##fileformat=VCFv4.3
##fileDate=01/02/2023
##source=VaRank
##InputFile=/home1/HUB/bin/variantconvert/current/tests/data/fam01_SAMPLE_VARANK_hg19_allVariants.rankingByGene.tsv
##FILTER=<ID=PASS,Description="Passed filter">
##INFO=<ID=variantID,Number=1,Type=String,Description="Variant identifier [#chr]_[genomicposition]_[RefBase]_[VarBase]">
##INFO=<ID=gene,Number=1,Type=String,Description="Gene symbol">
##INFO=<ID=geneDesc,Number=1,Type=String,Description="Gene description">
##INFO=<ID=omimId,Number=1,Type=String,Description="OMIM id">
##INFO=<ID=transcript,Number=1,Type=String,Description="RefSeq transcript id">
##INFO=<ID=strand,Number=1,Type=String,Description="Transcript strand">
##INFO=<ID=transLen,Number=1,Type=Float,Description="Length of transcript (full cDNA length)">
##INFO=<ID=cdsLen,Number=1,Type=String,Description="CDS length">
##INFO=<ID=chr,Number=1,Type=String,Description="Chromosome of variant">
##INFO=<ID=start,Number=1,Type=Float,Description="Start position of variant">
##INFO=<ID=end,Number=1,Type=Float,Description="End position of variant">
##INFO=<ID=ref,Number=1,Type=String,Description="Nucleotide sequence in the reference genome (restricted to 50bp)">
##INFO=<ID=alt,Number=1,Type=String,Description="Alternate nucleotide sequence (restricted to 50bp)">
##INFO=<ID=protein,Number=1,Type=String,Description="Protein ID (NCBI)">
##INFO=<ID=Uniprot,Number=1,Type=String,Description="UniProt ID">
##INFO=<ID=assembly,Number=1,Type=String,Description="Genome assembly">
##INFO=<ID=posAA,Number=1,Type=String,Description="Amino acid position">
##INFO=<ID=wtAA_1,Number=1,Type=String,Description="Reference codon">
##INFO=<ID=wtCodon,Number=1,Type=String,Description="WT codon">
##INFO=<ID=varAA_1,Number=1,Type=String,Description="Alternate codon">
##INFO=<ID=zygosity,Number=1,Type=String,Description="Homozygote or heterozygote status">
##INFO=<ID=totalReadDepth,Number=1,Type=String,Description="Total number of reads covering the position">
##INFO=<ID=varReadDepth,Number=1,Type=String,Description="Number of reads supporting the variant">
##INFO=<ID=varType,Number=1,Type=String,Description="Variant Type (substitution, deletion, insertion, duplication, delins)">
##INFO=<ID=codingEffect,Number=1,Type=String,Description="Variant Coding effect (synonymous, missense, stop gain, in-frame, frameshift, start loss, stop loss)">
##INFO=<ID=exon,Number=1,Type=String,Description="Exon number (nearest exon if intronic variant)">
##INFO=<ID=intron,Number=1,Type=String,Description="Intron number">
##INFO=<ID=gDNAstart,Number=1,Type=String,Description="gDNA start">
##INFO=<ID=gDNAend,Number=1,Type=String,Description="gDNA end">
##INFO=<ID=gNomen,Number=1,Type=String,Description="Genomic-level nomenclature">
##INFO=<ID=cDNAstart,Number=1,Type=String,Description="cDNA start">
##INFO=<ID=cDNAend,Number=1,Type=String,Description="cDNA end">
##INFO=<ID=cNomen,Number=1,Type=String,Description="cDNA-level nomenclature">
##INFO=<ID=pNomen,Number=1,Type=String,Description="Protein-level nomenclature">
##INFO=<ID=clinVarIds,Number=1,Type=String,Description="List of ClinVar Ids separated by '|'">
##INFO=<ID=clinVarOrigins,Number=1,Type=String,Description="List of ClinVar origins separated by '|', values: germline, somatic, de novo, maternal...">
##INFO=<ID=clinVarMethods,Number=1,Type=String,Description="List of ClinVar methods separated by '|', values: clinical testing, research, literature only...">
##INFO=<ID=clinVarClinSignifs,Number=1,Type=String,Description="List of ClinVar clinical significances separated by '|'">
##INFO=<ID=clinVarReviewStatus,Number=1,Type=String,Description="List of ClinVar reviews separated by '|', number of stars (0-4)">
##INFO=<ID=clinVarPhenotypes,Number=1,Type=String,Description="List of ClinVar phenotypes Ids separated by '|'">
##INFO=<ID=rsValidationNumber,Number=1,Type=String,Description="dbSNP number of validation categories">
##INFO=<ID=rsClinicalSignificance,Number=1,Type=String,Description="dbSNP variation clinical significance">
##INFO=<ID=rsAncestralAllele,Number=1,Type=String,Description="dbSNP ancestral allele">
##INFO=<ID=rsHeterozygosity,Number=1,Type=String,Description="dbSNP variation average heterozygosity">
##INFO=<ID=rsMAF,Number=1,Type=Float,Description="dbSNP variation global Minor Allele">
##INFO=<ID=rsMAFAllele,Number=1,Type=String,Description="dbSNP variation global minor allele">
##INFO=<ID=rsMAFCount,Number=1,Type=Float,Description="dbSNP variation sample size">
##INFO=<ID=1000g_AF,Number=1,Type=Float,Description="1000 genomes global allele frequency">
##INFO=<ID=1000g_AFR_AF,Number=1,Type=Float,Description="1000 genomes allele frequency in African population">
##INFO=<ID=1000g_SAS_AF,Number=1,Type=Float,Description="1000 genomes allele frequency in South Asian population">
##INFO=<ID=1000g_EAS_AF,Number=1,Type=Float,Description="1000 genomes allele frequency in East Asian population">
##INFO=<ID=1000g_EUR_AF,Number=1,Type=Float,Description="1000 genomes allele frequency in European population">
##INFO=<ID=1000g_AMR_AF,Number=1,Type=Float,Description="1000 genomes allele frequency in American population">
##INFO=<ID=gnomadAltFreq_all,Number=1,Type=Float,Description="gnomAD alternate allele frequency (All populations)">
##INFO=<ID=gnomadHomCount_all,Number=1,Type=Float,Description="gnomAD homozygous genotype count (All populations)">
##INFO=<ID=gnomadHetCount_all,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (All populations)">
##INFO=<ID=gnomadHemCount_all,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (All populations)">
##INFO=<ID=gnomadAltFreq_afr,Number=1,Type=Float,Description="gnomAD alternate allele frequency (African)">
##INFO=<ID=gnomadHomCount_afr,Number=1,Type=Float,Description="gnomAD homozygous genotype count (African)">
##INFO=<ID=gnomadHetCount_afr,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (African)">
##INFO=<ID=gnomadHemCount_afr,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (African)">
##INFO=<ID=gnomadAltFreq_amr,Number=1,Type=Float,Description="gnomAD alternate allele frequency (Latino)">
##INFO=<ID=gnomadHomCount_amr,Number=1,Type=Float,Description="gnomAD homozygous genotype count (Latino)">
##INFO=<ID=gnomadHetCount_amr,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (Latino)">
##INFO=<ID=gnomadHemCount_amr,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (Latino)">
##INFO=<ID=gnomadAltFreq_asj,Number=1,Type=Float,Description="gnomAD alternate allele frequency (Ashkenazy Jewish)">
##INFO=<ID=gnomadHomCount_asj,Number=1,Type=Float,Description="gnomAD homozygous genotype count (Ashkenazy Jewish)">
##INFO=<ID=gnomadHetCount_asj,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (Ashkenazy Jewish)">
##INFO=<ID=gnomadHemCount_asj,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (Ashkenazy Jewish)">
##INFO=<ID=gnomadAltFreq_eas,Number=1,Type=Float,Description="gnomAD alternate allele frequency (East Asian)">
##INFO=<ID=gnomadHomCount_eas,Number=1,Type=Float,Description="gnomAD homozygous genotype count (East Asian)">
##INFO=<ID=gnomadHetCount_eas,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (East Asian)">
##INFO=<ID=gnomadHemCount_eas,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (East Asian)">
##INFO=<ID=gnomadAltFreq_sas,Number=1,Type=Float,Description="gnomAD alternate allele frequency (South Asian)">
##INFO=<ID=gnomadHomCount_sas,Number=1,Type=Float,Description="gnomAD homozygous genotype count (South Asian)">
##INFO=<ID=gnomadHetCount_sas,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (South Asian)">
##INFO=<ID=gnomadHemCount_sas,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (South Asian)">
##INFO=<ID=gnomadAltFreq_nfe,Number=1,Type=Float,Description="gnomAD alternate allele frequency (Non-Finnish European)">
##INFO=<ID=gnomadHomCount_nfe,Number=1,Type=Float,Description="gnomAD homozygous genotype count (Non-Finnish European)">
##INFO=<ID=gnomadHetCount_nfe,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (Non-Finnish European)">
##INFO=<ID=gnomadHemCount_nfe,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (Non-Finnish European)">
##INFO=<ID=gnomadAltFreq_fin,Number=1,Type=Float,Description="gnomAD alternate allele frequency (Finnish European)">
##INFO=<ID=gnomadHomCount_fin,Number=1,Type=Float,Description="gnomAD homozygous genotype count (Finnish European)">
##INFO=<ID=gnomadHetCount_fin,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (Finnish European)">
##INFO=<ID=gnomadHemCount_fin,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (Finnish European)">
##INFO=<ID=gnomadAltFreq_oth,Number=1,Type=Float,Description="gnomAD alternate allele frequency (Other populations)">
##INFO=<ID=gnomadHomCount_oth,Number=1,Type=Float,Description="gnomAD homozygous genotype count (Other populations)">
##INFO=<ID=gnomadHetCount_oth,Number=1,Type=Float,Description="gnomAD heterozygous genotype count (Other populations)">
##INFO=<ID=gnomadHemCount_oth,Number=1,Type=Float,Description="gnomAD hemizygous genotype count (Other populations)">
##INFO=<ID=gnomadAltFreq_popmax,Number=1,Type=Float,Description="gnomAD alternate allele frequency (Maximum Allele Frequency across populations, excluding OTH)">
##INFO=<ID=gnomadFilter,Number=1,Type=String,Description="gnomAD VCF filter value (AC0, PASS, RF...)">
##INFO=<ID=gnomadReadDepth,Number=1,Type=String,Description="gnomAD read depth">
##INFO=<ID=gnomadOrigin,Number=1,Type=String,Description="gnomAD variant origin (Exomes, genomes, or both)">
##INFO=<ID=wtMaxEntScore,Number=1,Type=Float,Description="WT seq. MaxEntScan score">
##INFO=<ID=varMaxEntScore,Number=1,Type=Float,Description="Variant seq. MaxEntScan score">
##INFO=<ID=deltaSSFscorePercent,Number=1,Type=Float,Description="% difference between the splice score of variant with the score of the reference base">
##INFO=<ID=wtSSFScore,Number=1,Type=Float,Description="WT seq. SpliceSiteFinder score">
##INFO=<ID=varSSFScore,Number=1,Type=Float,Description="Variant seq. SpliceSiteFinder score">
##INFO=<ID=deltaNNSscorePercent,Number=1,Type=Float,Description="% difference between the splice score of variant with the score of the reference base">
##INFO=<ID=wtNNSScore,Number=1,Type=Float,Description="WT seq. NNSPLICE score">
##INFO=<ID=varNNSScore,Number=1,Type=Float,Description="Variant seq. NNSPLICE score">
##INFO=<ID=distNearestSS,Number=1,Type=Float,Description="Distance to Nearest splice site">
##INFO=<ID=nearestSSChange,Number=1,Type=Float,Description="Nearest splice site change">
##INFO=<ID=nearestSSType,Number=1,Type=String,Description="Nearest splice site type">
##INFO=<ID=localSpliceEffect,Number=1,Type=String,Description="Splicing  effect  in  variation  vicinity  (New  donor  Site,  New  Acceptor  Site,  Cryptic  Donor  Strongly  Activated, Cryptic Donor Weakly Activated, Cryptic Acceptor Strongly Activated, Cryptic Acceptor Weakly Activated)">
##INFO=<ID=localSS_pos,Number=1,Type=Float,Description="Genomic position of predicted new splice site or activated cryptic site">
##INFO=<ID=localSS_wtMaxEntScore,Number=1,Type=Float,Description="WT seq. MaxEntScan score used for local splice effect detection">
##INFO=<ID=localSS_wtNNSScore,Number=1,Type=Float,Description="WT seq. NNSPLICE score used for local splice effect detection">
##INFO=<ID=localSS_varMaxEntScore,Number=1,Type=Float,Description="Variant seq. MaxEntScan score used for local splice effect detection">
##INFO=<ID=localSS_varNNSScore,Number=1,Type=Float,Description="Variant seq. NNSPLICE score used for local splice effect detection">
##INFO=<ID=branchPointPos,Number=1,Type=Float,Description="Genomic position of affected putative branch point">
##INFO=<ID=branchPointChange,Number=1,Type=Float,Description="Change between WT and variant BP scores (range -5 to 100)">
##INFO=<ID=proteinDomain1,Number=1,Type=String,Description="Protein domain 1">
##INFO=<ID=proteinDomain2,Number=1,Type=String,Description="Protein domain 2">
##INFO=<ID=proteinDomain3,Number=1,Type=String,Description="Protein domain 3">
##INFO=<ID=proteinDomain4,Number=1,Type=String,Description="Protein domain 4">
##INFO=<ID=SIFTprediction,Number=1,Type=String,Description="SIFT prediction">
##INFO=<ID=SIFTweight,Number=1,Type=Float,Description="SIFT score ranges from 0 to 1. The amino acid substitution is predicted damaging is the score is <= 0.05, and tolerated if the score is > 0.05">
##INFO=<ID=SIFTmedian,Number=1,Type=Float,Description="SIFT median ranges from 0 to 4.32. This is used to measure the diversity of the sequences used for prediction. A warning will occur if this is greater than 3.25 because this indicates that the prediction was based on closely related sequences. The number should be between 2.75 and 3.5">
##INFO=<ID=PPH2pred,Number=1,Type=String,Description="PolyPhen-2 prediction using HumVar model are either 'neutral, possibly damaging, probably damaging' or 'neutral, deleterious' depending on the annotation engine.">
##INFO=<ID=phyloP,Number=1,Type=Float,Description="phyloP score">
##INFO=<ID=AGVGDclass,Number=1,Type=String,Description="AlignGVGD class">
##INFO=<ID=AGVGDgv,Number=1,Type=String,Description="AlignGVGD: variation (GV)">
##INFO=<ID=AGVGDgd,Number=1,Type=String,Description="AlignGVGD: deviation (GD)">
##INFO=<ID=annotationAnalysis,Number=1,Type=String,Description="Indicates the annotation status (value: Yes or No)">
##INFO=<ID=avgTotalDepth,Number=1,Type=Float,Description="Total read depth average at the variant position for all samples analyzed that have the variation">
##INFO=<ID=sdTotalDepth,Number=1,Type=Float,Description="Standard deviation associated with Avg_TotalDepth">
##INFO=<ID=countTotalDepth,Number=1,Type=Float,Description="Number of samples considered for the average total read depth">
##INFO=<ID=avgVariantDepth,Number=1,Type=String,Description="Variation read depth average at the variant position for all samples analyzed that have the variation">
##INFO=<ID=sdVariantDepth,Number=1,Type=String,Description="Standard deviation associated with Avg_SNVDepth">
##INFO=<ID=countVariantDepth,Number=1,Type=Float,Description="Number of samples considered for the average SNV read depth">
##INFO=<ID=familyBarcode,Number=1,Type=String,Description="Homozygote or heterozygote status for the sample of interest and its associated samples">
##INFO=<ID=barcode,Number=1,Type=String,Description="Homozygote or heterozygote status for all sample analyzed together (Hom: 2 ; Het: 1; Sample name is given at the first line of the file: ## Barcode)">
##INFO=<ID=homCount,Number=1,Type=Float,Description="Number of homozygote over all samples analyzed together">
##INFO=<ID=hetCount,Number=1,Type=Float,Description="Number of heterozygote over all samples analyzed together">
##INFO=<ID=alleleCount,Number=1,Type=String,Description="Number of alleles supporting the variant">
##INFO=<ID=sampleCount,Number=1,Type=Float,Description="Total number of samples">
##INFO=<ID=alleleFrequency,Number=1,Type=Float,Description="Allele frequency in all samples analyzed (with 4 decimals)">
##INFO=<ID=samVa,Number=1,Type=String,Description="Sample ID of the 10 first non WT variants, with their homozygote/heterozygote status">
##INFO=<ID=Mim Number,Number=1,Type=String,Description="OMIM unique six digit identifier">
##INFO=<ID=Phenotypes,Number=1,Type=String,Description="e.g. Charcot-Marie-Tooth disease">
##INFO=<ID=Inheritance,Number=1,Type=String,Description="e.g. AD (= 'Autosomal dominant'). Detailed in VaRank 1.4.3 FAQ.">
##INFO=<ID=synZ,Number=1,Type=Float,Description="Positive synZ (Z score) indicate gene intolerance to synonymous variation">
##INFO=<ID=misZ,Number=1,Type=Float,Description="Positive misZ (Z score) indicate gene intolerance to missense variation">
##INFO=<ID=pLI,Number=1,Type=Float,Description="Score computed in the ExAc database indicating the probability that a gene is intolerant to a loss of function variation  (Nonsense,  splice  acceptor  and  donor  variants  caused  by  SNV).  ExAC  consider  pLI  >=  0.9  as  an extremely LoF intolerant set of genes">
##INFO=<ID=HI_percent,Number=1,Type=Float,Description="Haploinsufficiency ranks">
##INFO=<ID=varankVarScore,Number=1,Type=Integer,Description="VaRank score">
##INFO=<ID=varLocation,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=rsId,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=rsValidations,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=deltaMaxEntScorePercent,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=localSpliceAnnotation,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=localSS_wtSSFScore,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=localSS_varSSFScore,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=phastCons,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=granthamDist,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=GenotypeConcordance,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=genes,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=Disease_Acronym,Number=1,Type=String,Description="Extracted from VaRank">
##INFO=<ID=Disease_Name_RetNet,Number=1,Type=String,Description="Extracted from VaRank">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=AD,Number=1,Type=String,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=VAF,Number=1,Type=Float,Description="Variant allele fraction">
##FORMAT=<ID=FindByPipelines,Number=1,Type=String,Description="How many callers found this variant compared to total callers used">
##FORMAT=<ID=POOL_barcode,Number=1,Type=String,Description="Barcode from STARK's POOL module">
##FORMAT=<ID=GMC,Number=1,Type=String,Description="Gene Mutations Count: number of variants occuring in the same gene based on 'genes' column. Computed by variantconvert">
##contig=<ID=chr1,length=249250621,assembly=hg19>
##contig=<ID=chr2,length=243199373,assembly=hg19>
##contig=<ID=chr3,length=198022430,assembly=hg19>
##contig=<ID=chr4,length=191154276,assembly=hg19>
##contig=<ID=chr5,length=180915260,assembly=hg19>
##contig=<ID=chr6,length=171115067,assembly=hg19>
##contig=<ID=chr7,length=159138663,assembly=hg19>
##contig=<ID=chr8,length=146364022,assembly=hg19>
##contig=<ID=chr9,length=141213431,assembly=hg19>
##contig=<ID=chr10,length=135534747,assembly=hg19>
##contig=<ID=chr11,length=135006516,assembly=hg19>
##contig=<ID=chr12,length=133851895,assembly=hg19>
##contig=<ID=chr13,length=115169878,assembly=hg19>
##contig=<ID=chr14,length=107349540,assembly=hg19>
##contig=<ID=chr15,length=102531392,assembly=hg19>
##contig=<ID=chr16,length=90354753,assembly=hg19>
##contig=<ID=chr17,length=81195210,assembly=hg19>
##contig=<ID=chr18,length=78077248,assembly=hg19>
##contig=<ID=chr19,length=59128983,assembly=hg19>
##contig=<ID=chr20,length=63025520,assembly=hg19>
##contig=<ID=chr21,length=48129895,assembly=hg19>
##contig=<ID=chr22,length=51304566,assembly=hg19>
##contig=<ID=chrM,length=16571,assembly=hg19>
##contig=<ID=chrX,length=155270560,assembly=hg19>
##contig=<ID=chrY,length=59373566,assembly=hg19>
##reference=file:///home1/DB/STARK/genomes/current/hg19.fa
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	SAMPLE_VARANK
chr1	19542727	.	C	CAAAAAAAAA	1594.73	PASS	variantID=1_19542727_-_AAAAAAAAA;gene=EMC1;geneDesc=ER membrane protein complex subunit 1;omimId=616846;transcript=NM_015047.2;strand=-1;transLen=6671;cdsLen=2982;protein=NP_055862.1;Uniprot=Q8N766;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=duplication;codingEffect=.;varLocation=3'UTR;assembly=GRCh37;exon=23;intron=.;gDNAstart=19542727;gDNAend=19542728;gNomen=Chr1(GRCh37):g.19542728_19542736dup;cDNAstart=*3061;cDNAend=*3069;cNomen=c.*3061_*3069dup;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=.;rsValidations=.;rsValidationNumber=.;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=-1;rsMAFAllele=.;rsMAFCount=-1;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=-1;gnomadAltFreq_afr=-1;gnomadAltFreq_amr=-1;gnomadAltFreq_asj=-1;gnomadAltFreq_eas=-1;gnomadAltFreq_sas=-1;gnomadAltFreq_nfe=-1;gnomadAltFreq_fin=-1;gnomadAltFreq_oth=-1;gnomadAltFreq_popmax=-1;gnomadHomCount_all=-1;gnomadHomCount_afr=-1;gnomadHomCount_amr=-1;gnomadHomCount_asj=-1;gnomadHomCount_eas=-1;gnomadHomCount_sas=-1;gnomadHomCount_nfe=-1;gnomadHomCount_fin=-1;gnomadHomCount_oth=-1;gnomadHetCount_all=-1;gnomadHetCount_afr=-1;gnomadHetCount_amr=-1;gnomadHetCount_asj=-1;gnomadHetCount_eas=-1;gnomadHetCount_sas=-1;gnomadHetCount_nfe=-1;gnomadHetCount_fin=-1;gnomadHetCount_oth=-1;gnomadHemCount_all=-1;gnomadHemCount_afr=-1;gnomadHemCount_amr=-1;gnomadHemCount_asj=-1;gnomadHemCount_eas=-1;gnomadHemCount_sas=-1;gnomadHemCount_nfe=-1;gnomadHemCount_fin=-1;gnomadHemCount_oth=-1;gnomadFilter=.;gnomadReadDepth=-1;gnomadOrigin=.;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.57461;varMaxEntScore=9.57461;deltaSSFscorePercent=0.0;wtSSFScore=88.6863;varSSFScore=88.6863;deltaNNSscorePercent=0.0;wtNNSScore=0.982296;varNNSScore=0.982296;nearestSSChange=0.0;distNearestSS=3249;nearestSSType=3';localSpliceEffect=Cryptic Acceptor Strongly Activated;localSpliceAnnotation=.;localSS_pos=19542723.0;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=1.38038;localSS_wtNNSScore=0.514845;localSS_varNNSScore=0.945691;localSS_wtSSFScore=88.8773;localSS_varSSFScore=89.178;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=.;phastCons=.;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=40;annotationAnalysis=yes;avgTotalDepth=92;sdTotalDepth=20;countTotalDepth=6;avgVariantDepth=49;sdVariantDepth=32;countVariantDepth=6;familyBarcode='1';barcode='000000000000000000000000000000000000000000000010010000000000000000000000000000000000000000200000000000000000000000000000000000000000000000000000000000000000000000010000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000001000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000002000000000000000000000';homCount=2;hetCount=4;alleleCount=8;sampleCount=423;alleleFrequency=0.0095;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=EMC1;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=616846.0;Phenotypes=Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3);Inheritance=AR;synZ=0.106136667611502;misZ=1.30684848094874;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:90:70,20:0.22:1/2:1:1
chr1	156144893	rs148744804	G	C	11906.8	PASS	variantID=1_156144893_G_C;gene=SEMA4A;geneDesc=Semaphorin 4A;omimId=607292;transcript=NM_001193300.1;strand=1;transLen=3294;cdsLen=2286;protein=NP_001180229.1;Uniprot=Q9H3S1;posAA=484.0;wtAA_1=G;wtCodon=GGC;varAA_1=A;varType=substitution;codingEffect=missense;varLocation=exon;assembly=GRCh37;exon=13;intron=.;gDNAstart=156144893;gDNAend=156144893;gNomen=Chr1(GRCh37):g.156144893G>C;cDNAstart=1451;cDNAend=1451;cNomen=c.1451G>C;pNomen=p.Gly484Ala;clinVarIds=RCV001097619.1|RCV001097618.1|RCV000732344.2;clinVarOrigins=germline|germline|germline;clinVarMethods=clinical testing|clinical testing|clinical testing;clinVarClinSignifs=VUS|VUS|VUS;clinVarReviewStatus=0|0|0;clinVarPhenotypes=Retinitis pigmentosa|Cone-rod dystrophy 10|not provided;rsId=rs148744804;rsValidations=Frequency/1000G;rsValidationNumber=2.0;rsAncestralAllele=G;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0.000599;rsMAFAllele=C;rsMAFCount=3;1000g_AF=0.000599;1000g_AFR_AF=0.0008;1000g_SAS_AF=0;1000g_EAS_AF=0;1000g_EUR_AF=0.001;1000g_AMR_AF=0.0014;gnomadAltFreq_all=0.000597;gnomadAltFreq_afr=0.00016;gnomadAltFreq_amr=0.001185;gnomadAltFreq_asj=0.000289;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.000883;gnomadAltFreq_fin=0.00004;gnomadAltFreq_oth=0.000692;gnomadAltFreq_popmax=0.001185;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=169;gnomadHetCount_afr=4;gnomadHetCount_amr=42;gnomadHetCount_asj=3;gnomadHetCount_eas=0;gnomadHetCount_sas=0;gnomadHetCount_nfe=114;gnomadHetCount_fin=1;gnomadHetCount_oth=5;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=10.0102;varMaxEntScore=10.0102;deltaSSFscorePercent=0.0;wtSSFScore=91.0293;varSSFScore=91.0293;deltaNNSscorePercent=-0.2;wtNNSScore=0.986589;varNNSScore=0.985068;nearestSSChange=-0.000513892;distNearestSS=17;nearestSSType=3';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=Sema domain;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=Deleterious;SIFTweight=0.0;SIFTmedian=3.23;PPH2pred=.;phyloP=3.918;phastCons=1.0;granthamDist=60.0;AGVGDclass=C55;AGVGDgv=0.0;AGVGDgd=59.9954;varankVarScore=60;annotationAnalysis=yes;avgTotalDepth=817;sdTotalDepth=0;countTotalDepth=1;avgVariantDepth=379;sdVariantDepth=0;countVariantDepth=1;familyBarcode='1';barcode='000000000000000000000000000000000000000100000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=1;alleleCount=1;sampleCount=423;alleleFrequency=0.0012;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=SEMA4A;Disease_Acronym=RP;Disease_Name_RetNet=Cone or cone-rod dystrophy, Retinitis pigmentosa;Mim Number=607292.0;Phenotypes=Cone-rod dystrophy 10, 610283 (3)/ Retinitis pigmentosa 35, 610282 (3);Inheritance=AR/AR, AD;synZ=0.34749687346709;misZ=0.549547613348426;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:817:438,379:0.46:2/2:11:1
chr10	102505875	rs878930826	G	C	240.77	PASS	variantID=10_102505875_G_C;gene=PAX2;geneDesc=Paired box 2;omimId=167409;transcript=ENST00000370296.6;strand=1;transLen=4140;cdsLen=1191;protein=ENSP00000359319;Uniprot=.;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=5'UTR;assembly=GRCh37;exon=1;intron=.;gDNAstart=102505875;gDNAend=102505875;gNomen=Chr10(GRCh37):g.102505875G>C;cDNAstart=-143;cDNAend=-143;cNomen=c.-143G>C;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs878930826;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=G;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.00086;gnomadAltFreq_afr=0;gnomadAltFreq_amr=0.002778;gnomadAltFreq_asj=0.003817;gnomadAltFreq_eas=0.000655;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.000727;gnomadAltFreq_fin=0.003551;gnomadAltFreq_oth=0;gnomadAltFreq_popmax=0.003817;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=24;gnomadHetCount_afr=0;gnomadHetCount_amr=2;gnomadHetCount_asj=1;gnomadHetCount_eas=1;gnomadHetCount_sas=0;gnomadHetCount_nfe=10;gnomadHetCount_fin=10;gnomadHetCount_oth=0;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=RF;gnomadReadDepth=527207;gnomadOrigin=Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.39938;varMaxEntScore=9.39938;deltaSSFscorePercent=0.0;wtSSFScore=73.1057;varSSFScore=73.1057;deltaNNSscorePercent=0.0;wtNNSScore=0.896896;varNNSScore=0.896896;nearestSSChange=0.0;distNearestSS=-186;nearestSSType=5';localSpliceEffect=Cryptic Acceptor Weakly Activated;localSpliceAnnotation=.;localSS_pos=102505894.0;localSS_wtMaxEntScore=7.59154;localSS_varMaxEntScore=8.20148;localSS_wtNNSScore=0.113842;localSS_varNNSScore=0.176642;localSS_wtSSFScore=68.4913;localSS_varSSFScore=68.4913;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=0.367;phastCons=0.039;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=35;annotationAnalysis=yes;avgTotalDepth=175;sdTotalDepth=102;countTotalDepth=41;avgVariantDepth=60;sdVariantDepth=32;countVariantDepth=41;familyBarcode='1';barcode='000000000000000000000000000000000001010011000110100010001010010000000100000100100000000001000000000100000000100000000000000000000000000000010000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000010000001011001000010001000010000010000000010000001000000001000000000000001101000001010100101001000000000000000000000000000000000000000000010000000010000000000';homCount=0;hetCount=41;alleleCount=41;sampleCount=423;alleleFrequency=0.0485;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=PAX2;Disease_Acronym=RP;Disease_Name_RetNet=Syndromic/systemic diseases with retinopathy;Mim Number=167409.0;Phenotypes=Glomerulosclerosis, focal segmental, 7, 616002 (3)/ Papillorenal syndrome, 120330 (3);Inheritance=AD;synZ=1.85617346172612;misZ=2.28424009848006;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:352:233,119:0.34:1/2:1:1
chr11	61165741	rs10897158	G	C	13865.8	PASS	variantID=11_61165741_G_C;gene=TMEM216;geneDesc=Transmembrane protein 216;omimId=613277;transcript=NM_001330285.1;strand=1;transLen=1311;cdsLen=255;protein=NP_001317214.1;Uniprot=.;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=splice site;assembly=GRCh37;exon=5;intron=4.0;gDNAstart=61165741;gDNAend=61165741;gNomen=Chr11(GRCh37):g.61165741G>C;cDNAstart=249-1;cDNAend=249-1;cNomen=c.249-1G>C;pNomen=p.?;clinVarIds=RCV000988565.1|RCV000200066.8|RCV000114239.5|RCV001093993.1|RCV000291379.2|RCV000590397.3;clinVarOrigins=unknown|germline|germline|germline|germline|germline;clinVarMethods=clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing;clinVarClinSignifs=Benign|Benign|Benign|Benign|Benign|Benign;clinVarReviewStatus=0|0|0|0|0|0;clinVarPhenotypes=Joubert syndrome 1|Joubert syndrome|not specified|Joubert syndrome 2|Meckel syndrome|not provided;rsId=rs10897158;rsValidations=Frequency/HapMap/1000G;rsValidationNumber=3.0;rsAncestralAllele=G;rsHeterozygosity=.;rsClinicalSignificance=CLIN_benign;rsMAF=0.280351;rsMAFAllele=G;rsMAFCount=1404;1000g_AF=0.719649;1000g_AFR_AF=0.295;1000g_SAS_AF=0.8108;1000g_EAS_AF=0.9712;1000g_EUR_AF=0.8549;1000g_AMR_AF=0.8386;gnomadAltFreq_all=0.81903;gnomadAltFreq_afr=0.355201;gnomadAltFreq_amr=0.861735;gnomadAltFreq_asj=0.890361;gnomadAltFreq_eas=0.962537;gnomadAltFreq_sas=0.834763;gnomadAltFreq_nfe=0.849986;gnomadAltFreq_fin=0.878561;gnomadAltFreq_oth=0.850057;gnomadAltFreq_popmax=0.962537;gnomadHomCount_all=95642;gnomadHomCount_afr=1555;gnomadHomCount_amr=12891;gnomadHomCount_asj=4047;gnomadHomCount_eas=8991;gnomadHomCount_sas=10545;gnomadHomCount_nfe=45517;gnomadHomCount_fin=9540;gnomadHomCount_oth=2556;gnomadHetCount_all=34752;gnomadHetCount_afr=5358;gnomadHetCount_amr=4165;gnomadHetCount_asj=977;gnomadHetCount_eas=697;gnomadHetCount_sas=4018;gnomadHetCount_nfe=16037;gnomadHetCount_fin=2631;gnomadHetCount_oth=869;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=-100.0;wtMaxEntScore=5.47392;varMaxEntScore=0.0;deltaSSFscorePercent=-100.0;wtSSFScore=74.1859;varSSFScore=0.0;deltaNNSscorePercent=-100.0;wtNNSScore=0.012551;varNNSScore=0.0;nearestSSChange=-1.0;distNearestSS=-1;nearestSSType=3';localSpliceEffect=.;localSpliceAnnotation=essential splice acceptor;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=0.69;phastCons=0.992;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=95;annotationAnalysis=yes;avgTotalDepth=328;sdTotalDepth=111;countTotalDepth=415;avgVariantDepth=274;sdVariantDepth=120;countVariantDepth=415;familyBarcode='2';barcode='2201222122112122122201211212121222122212222212212222222111101201222102202121112222012222222211222222221122122221221002222222121211212220210202222212112212222221022122120021222212122221222222211222211221212122222222211222122211222222221020221212222222112111222112222221222222212222222212220221121122221222222222112212121211122222221212211212112212212220222222122212111112222122222212212222212122212222112200221222222222122002220212222212222';homCount=297;hetCount=118;alleleCount=712;sampleCount=439;alleleFrequency=0.8109;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=TMEM216;Disease_Acronym=MKS2, JBTS2;Disease_Name_RetNet=Joubert syndrome;Mim Number=613277.0;Phenotypes=Joubert syndrome 2, 608091 (3)/ Meckel syndrome 2, 603194 (3);Inheritance=AR;synZ=0.054660781214018;misZ=-0.159519899794777;pLI=0.0017154719739961;HI_percent=24.23	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	1/1:322:0,322:1.0:2/2:211:1
chr16	16253283	rs56822940	GC	G	2741.73	PASS	variantID=16_16253284_C_-;gene=ABCC6;geneDesc=ATP binding cassette subfamily C member 6;omimId=603234;transcript=NM_001351800.1;strand=-1;transLen=5148;cdsLen=4170;protein=NP_001338729.1;Uniprot=.;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=deletion;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=26;intron=26.0;gDNAstart=16253284;gDNAend=16253284;gNomen=Chr16(GRCh37):g.16253284del;cDNAstart=3393+55;cDNAend=3393+55;cNomen=c.3393+55del;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs56822940;rsValidations=Frequency/1000G;rsValidationNumber=2.0;rsAncestralAllele=C;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.977987;gnomadAltFreq_afr=0.924242;gnomadAltFreq_amr=0.995227;gnomadAltFreq_asj=1;gnomadAltFreq_eas=0.998703;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.99915;gnomadAltFreq_fin=0.998552;gnomadAltFreq_oth=0.990706;gnomadAltFreq_popmax=1;gnomadHomCount_all=14877;gnomadHomCount_afr=3665;gnomadHomCount_amr=415;gnomadHomCount_asj=145;gnomadHomCount_eas=769;gnomadHomCount_sas=0;gnomadHomCount_nfe=7633;gnomadHomCount_fin=1722;gnomadHomCount_oth=528;gnomadHetCount_all=634;gnomadHetCount_afr=600;gnomadHetCount_amr=4;gnomadHetCount_asj=0;gnomadHetCount_eas=2;gnomadHetCount_sas=0;gnomadHetCount_nfe=13;gnomadHetCount_fin=5;gnomadHetCount_oth=10;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=639856;gnomadOrigin=Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=4.43734;varMaxEntScore=4.43734;deltaSSFscorePercent=0.0;wtSSFScore=75.1714;varSSFScore=75.1714;deltaNNSscorePercent=0.0;wtNNSScore=0.242367;varNNSScore=0.242367;nearestSSChange=0.0;distNearestSS=55;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=.;phastCons=.;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=2;annotationAnalysis=yes;avgTotalDepth=36;sdTotalDepth=28;countTotalDepth=292;avgVariantDepth=35;sdVariantDepth=27;countVariantDepth=292;familyBarcode='2';barcode='2222202022020202202022222222222222222222222222222222222222222222212222212222220002020022222221222002202202202222202220000220200222222002220002202222000220222220002220220002222222022220202222222022202220002220222202220222222222222022222002222222020220222222220022222220000022022022000222220220220222222002200222022022222222222022222220220202000002000020000000022000020220222022020202022222222222022002000020020000000200000000000000020012022';homCount=288;hetCount=4;alleleCount=580;sampleCount=439;alleleFrequency=0.6606;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=ABCC6;Disease_Acronym=RP;Disease_Name_RetNet=Syndromic/systemic diseases with retinopathy;Mim Number=603234.0;Phenotypes=Pseudoxanthoma elasticum, 264800 (3)/ Arterial calcification, generalized, of infancy, 2, 614473 (3)/ Pseudoxanthoma elasticum, forme fruste, 177850 (3);Inheritance=AR/AR/AD;synZ=-0.536294786239301;misZ=-0.925838122121369;pLI=1.46223413842281e-06;HI_percent=72.9	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	1/1:86:1,85:0.99:2/2:222:1
chr17	36487216	.	G	C	6252.77	PASS	variantID=17_36487216_G_C;gene=GPR179;geneDesc=G protein-coupled receptor 179;omimId=614515;transcript=NM_001004334.3;strand=-1;transLen=7980;cdsLen=7104;protein=NP_001004334.3;Uniprot=Q6PRD1;posAA=746.0;wtAA_1=L;wtCodon=CTG;varAA_1=V;varType=substitution;codingEffect=missense;varLocation=exon;assembly=GRCh37;exon=11;intron=.;gDNAstart=36487216;gDNAend=36487216;gNomen=Chr17(GRCh37):g.36487216G>C;cDNAstart=2236;cDNAend=2236;cNomen=c.2236C>G;pNomen=p.Leu746Val;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=.;rsValidations=.;rsValidationNumber=.;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=-1;rsMAFAllele=.;rsMAFCount=-1;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=-1;gnomadAltFreq_afr=-1;gnomadAltFreq_amr=-1;gnomadAltFreq_asj=-1;gnomadAltFreq_eas=-1;gnomadAltFreq_sas=-1;gnomadAltFreq_nfe=-1;gnomadAltFreq_fin=-1;gnomadAltFreq_oth=-1;gnomadAltFreq_popmax=-1;gnomadHomCount_all=-1;gnomadHomCount_afr=-1;gnomadHomCount_amr=-1;gnomadHomCount_asj=-1;gnomadHomCount_eas=-1;gnomadHomCount_sas=-1;gnomadHomCount_nfe=-1;gnomadHomCount_fin=-1;gnomadHomCount_oth=-1;gnomadHetCount_all=-1;gnomadHetCount_afr=-1;gnomadHetCount_amr=-1;gnomadHetCount_asj=-1;gnomadHetCount_eas=-1;gnomadHetCount_sas=-1;gnomadHetCount_nfe=-1;gnomadHetCount_fin=-1;gnomadHetCount_oth=-1;gnomadHemCount_all=-1;gnomadHemCount_afr=-1;gnomadHemCount_amr=-1;gnomadHemCount_asj=-1;gnomadHemCount_eas=-1;gnomadHemCount_sas=-1;gnomadHemCount_nfe=-1;gnomadHemCount_fin=-1;gnomadHemCount_oth=-1;gnomadFilter=.;gnomadReadDepth=-1;gnomadOrigin=.;deltaMaxEntScorePercent=0.0;wtMaxEntScore=10.0932;varMaxEntScore=10.0932;deltaSSFscorePercent=0.0;wtSSFScore=82.7819;varSSFScore=82.7819;deltaNNSscorePercent=0.0;wtNNSScore=0.961452;varNNSScore=0.961452;nearestSSChange=0.0;distNearestSS=199;nearestSSType=3';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=Deleterious;SIFTweight=0.03;SIFTmedian=3.86;PPH2pred=.;phyloP=0.044;phastCons=0.969;granthamDist=32.0;AGVGDclass=C0;AGVGDgv=353.86;AGVGDgd=0.0;varankVarScore=55;annotationAnalysis=yes;avgTotalDepth=444;sdTotalDepth=0;countTotalDepth=1;avgVariantDepth=231;sdVariantDepth=0;countVariantDepth=1;familyBarcode='1';barcode='000000000000000000000000000000000000000100000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=1;alleleCount=1;sampleCount=423;alleleFrequency=0.0012;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=GPR179;Disease_Acronym=RP;Disease_Name_RetNet=Congenital stationary night blindness;Mim Number=614515.0;Phenotypes=Night blindness, congenital stationary (complete), 1E, AR, 614565 (3);Inheritance=AR;synZ=-0.649102948865053;misZ=-0.448803552145447;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:444:213,231:0.52:2/2:11:1
chr17	42427661	rs763841075	T	C	7117.77	PASS	variantID=17_42427661_T_C;gene=GRN;geneDesc=Granulin;omimId=138945;transcript=NM_002087.3;strand=1;transLen=2346;cdsLen=1782;protein=NP_002078.1;Uniprot=P28799;posAA=139.0;wtAA_1=C;wtCodon=TGC;varAA_1=R;varType=substitution;codingEffect=missense;varLocation=exon;assembly=GRCh37;exon=5;intron=.;gDNAstart=42427661;gDNAend=42427661;gNomen=Chr17(GRCh37):g.42427661T>C;cDNAstart=415;cDNAend=415;cNomen=c.415T>C;pNomen=p.Cys139Arg;clinVarIds=RCV000996562.1|RCV000720469.1;clinVarOrigins=germline|germline;clinVarMethods=clinical testing|clinical testing;clinVarClinSignifs=VUS|VUS;clinVarReviewStatus=0|0;clinVarPhenotypes=not provided|Seizures;rsId=rs763841075;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=T;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.000179;gnomadAltFreq_afr=0;gnomadAltFreq_amr=0.000202;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0.000359;gnomadAltFreq_nfe=0.000193;gnomadAltFreq_fin=0.000092;gnomadAltFreq_oth=0.000489;gnomadAltFreq_popmax=0.000359;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=45;gnomadHetCount_afr=0;gnomadHetCount_amr=7;gnomadHetCount_asj=0;gnomadHetCount_eas=0;gnomadHetCount_sas=11;gnomadHetCount_nfe=22;gnomadHetCount_fin=2;gnomadHetCount_oth=3;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=17990564;gnomadOrigin=Exomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=7.09191;varMaxEntScore=7.09191;deltaSSFscorePercent=0.0;wtSSFScore=71.7343;varSSFScore=71.7343;deltaNNSscorePercent=0.0;wtNNSScore=0.857192;varNNSScore=0.857192;nearestSSChange=0.0;distNearestSS=-48;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=Granulin;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=Deleterious;SIFTweight=0.01;SIFTmedian=3.37;PPH2pred=.;phyloP=3.757;phastCons=0.984;granthamDist=180.0;AGVGDclass=C0;AGVGDgv=353.86;AGVGDgd=0.0;varankVarScore=60;annotationAnalysis=yes;avgTotalDepth=364;sdTotalDepth=10;countTotalDepth=2;avgVariantDepth=169;sdVariantDepth=7;countVariantDepth=2;familyBarcode='1';barcode='00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000110000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=2;alleleCount=2;sampleCount=446;alleleFrequency=0.0022;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=GRN;Disease_Acronym=RP;Disease_Name_RetNet=Neuronal Ceroid-Lipofuscinoses;Mim Number=138945.0;Phenotypes=Aphasia, primary progressive, 607485 (3) AD,Ceroid lipofuscinosis, neuronal, 11, 614706 (3) AR,Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3) AD;Inheritance=AD,AR;synZ=-0.26558495116367;misZ=0.481279967286597;pLI=0.429293923610509;HI_percent=64.61	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:353:191,162:0.46:2/2:11:1
chr2	62053073	.	T	G	39.77	PASS	variantID=2_62053073_T_G;gene=FAM161A;geneDesc=Family with sequence similarity 161, member A;omimId=613596;transcript=NR_037710.1;strand=-1;transLen=3636;cdsLen=0;protein=.;Uniprot=.;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=exon;assembly=GRCh37;exon=6;intron=.;gDNAstart=62053073;gDNAend=62053073;gNomen=Chr2(GRCh37):g.62053073T>G;cDNAstart=2546;cDNAend=2546;cNomen=n.2546A>C;pNomen=.;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=.;rsValidations=.;rsValidationNumber=.;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=-1;rsMAFAllele=.;rsMAFCount=-1;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=-1;gnomadAltFreq_afr=-1;gnomadAltFreq_amr=-1;gnomadAltFreq_asj=-1;gnomadAltFreq_eas=-1;gnomadAltFreq_sas=-1;gnomadAltFreq_nfe=-1;gnomadAltFreq_fin=-1;gnomadAltFreq_oth=-1;gnomadAltFreq_popmax=-1;gnomadHomCount_all=-1;gnomadHomCount_afr=-1;gnomadHomCount_amr=-1;gnomadHomCount_asj=-1;gnomadHomCount_eas=-1;gnomadHomCount_sas=-1;gnomadHomCount_nfe=-1;gnomadHomCount_fin=-1;gnomadHomCount_oth=-1;gnomadHetCount_all=-1;gnomadHetCount_afr=-1;gnomadHetCount_amr=-1;gnomadHetCount_asj=-1;gnomadHetCount_eas=-1;gnomadHetCount_sas=-1;gnomadHetCount_nfe=-1;gnomadHetCount_fin=-1;gnomadHetCount_oth=-1;gnomadHemCount_all=-1;gnomadHemCount_afr=-1;gnomadHemCount_amr=-1;gnomadHemCount_asj=-1;gnomadHemCount_eas=-1;gnomadHemCount_sas=-1;gnomadHemCount_nfe=-1;gnomadHemCount_fin=-1;gnomadHemCount_oth=-1;gnomadFilter=.;gnomadReadDepth=-1;gnomadOrigin=.;deltaMaxEntScorePercent=0.0;wtMaxEntScore=7.76068;varMaxEntScore=7.76068;deltaSSFscorePercent=0.0;wtSSFScore=79.6649;varSSFScore=79.6649;deltaNNSscorePercent=0.0;wtNNSScore=0.922234;varNNSScore=0.922234;nearestSSChange=0.0;distNearestSS=662;nearestSSType=3';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=1.255;phastCons=0.016;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=2;annotationAnalysis=yes;avgTotalDepth=21;sdTotalDepth=4;countTotalDepth=9;avgVariantDepth=8;sdVariantDepth=2;countVariantDepth=9;familyBarcode='1';barcode='000000000000000000000000000000000000010000000010000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000001000000000100000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000010000000000000000000000000000001000000000000000000000000000000000000000001000000001010000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=9;alleleCount=9;sampleCount=423;alleleFrequency=0.0106;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=FAM161A;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=613596.0;Phenotypes=Retinitis pigmentosa 28, 606068 (3);Inheritance=.;synZ=-0.696902105028648;misZ=-1.54386974732556;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:15:10,5:0.33:1/2:1:1
chr2	112687157	rs138909702	A	ATATTTATTTATTTATTTATTTATT	21338.7	PASS	variantID=2_112687157_-_TATTTATTTATTTATTTATTTATT;gene=MERTK;geneDesc=C-mer proto-oncogene tyrosine kinase;omimId=604705;transcript=NM_006343.2;strand=1;transLen=3626;cdsLen=3000;protein=NP_006334.2;Uniprot=Q12866;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=insertion;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=2;intron=2.0;gDNAstart=112687175;gDNAend=112687176;gNomen=Chr2(GRCh37):g.112687175_112687176insTTTATTTATTTATTTATTTATTTA;cDNAstart=482+58;cDNAend=482+59;cNomen=c.482+58_482+59insTTTATTTATTTATTTATTTATTTA;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs138909702;rsValidations=Frequency/1000G;rsValidationNumber=2.0;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=-1;gnomadAltFreq_afr=-1;gnomadAltFreq_amr=-1;gnomadAltFreq_asj=-1;gnomadAltFreq_eas=-1;gnomadAltFreq_sas=-1;gnomadAltFreq_nfe=-1;gnomadAltFreq_fin=-1;gnomadAltFreq_oth=-1;gnomadAltFreq_popmax=-1;gnomadHomCount_all=-1;gnomadHomCount_afr=-1;gnomadHomCount_amr=-1;gnomadHomCount_asj=-1;gnomadHomCount_eas=-1;gnomadHomCount_sas=-1;gnomadHomCount_nfe=-1;gnomadHomCount_fin=-1;gnomadHomCount_oth=-1;gnomadHetCount_all=-1;gnomadHetCount_afr=-1;gnomadHetCount_amr=-1;gnomadHetCount_asj=-1;gnomadHetCount_eas=-1;gnomadHetCount_sas=-1;gnomadHetCount_nfe=-1;gnomadHetCount_fin=-1;gnomadHetCount_oth=-1;gnomadHemCount_all=-1;gnomadHemCount_afr=-1;gnomadHemCount_amr=-1;gnomadHemCount_asj=-1;gnomadHemCount_eas=-1;gnomadHemCount_sas=-1;gnomadHemCount_nfe=-1;gnomadHemCount_fin=-1;gnomadHemCount_oth=-1;gnomadFilter=.;gnomadReadDepth=-1;gnomadOrigin=.;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.80181;varMaxEntScore=9.80181;deltaSSFscorePercent=0.0;wtSSFScore=89.8263;varSSFScore=89.8263;deltaNNSscorePercent=0.0;wtNNSScore=0.995391;varNNSScore=0.995391;nearestSSChange=0.0;distNearestSS=58;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=.;phastCons=.;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=2;annotationAnalysis=yes;avgTotalDepth=73;sdTotalDepth=43;countTotalDepth=27;avgVariantDepth=30;sdVariantDepth=19;countVariantDepth=27;familyBarcode='1';barcode='00001000000100022000001000000000000000000000000000001000000000000100000100000000000011000000000000000000000000000000000000000000000000100100000000000000100000100000000000000000000000000000000000000100000100000000000000000000000000000001000001000000100000000000000000001100000000000000000000000000000000001121000000000000012000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=4;hetCount=23;alleleCount=31;sampleCount=446;alleleFrequency=0.0348;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=MERTK;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=604705.0;Phenotypes=Retinitis pigmentosa 38, 613862 (3) AR;Inheritance=AR;synZ=0.689301380653179;misZ=-0.444660206300317;pLI=6.85867508459746e-07;HI_percent=61.44	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:187:113,74:0.4:2/2:100:2
chr2	112778968	rs183947625	C	T	1977.77	PASS	variantID=2_112778968_C_T;gene=MERTK;geneDesc=C-mer proto-oncogene tyrosine kinase;omimId=604705;transcript=NM_006343.2;strand=1;transLen=3626;cdsLen=3000;protein=NP_006334.2;Uniprot=Q12866;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=17;intron=16.0;gDNAstart=112778968;gDNAend=112778968;gNomen=Chr2(GRCh37):g.112778968C>T;cDNAstart=2190-31;cDNAend=2190-31;cNomen=c.2190-31C>T;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs183947625;rsValidations=Frequency/1000G;rsValidationNumber=2.0;rsAncestralAllele=C;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0.000998;rsMAFAllele=T;rsMAFCount=5;1000g_AF=0.000998;1000g_AFR_AF=0;1000g_SAS_AF=0.0031;1000g_EAS_AF=0.001;1000g_EUR_AF=0;1000g_AMR_AF=0.0014;gnomadAltFreq_all=0.001149;gnomadAltFreq_afr=0.000441;gnomadAltFreq_amr=0.001524;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0.00005;gnomadAltFreq_sas=0.003593;gnomadAltFreq_nfe=0.001064;gnomadAltFreq_fin=0.000122;gnomadAltFreq_oth=0.001109;gnomadAltFreq_popmax=0.003593;gnomadHomCount_all=1;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=1;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=322;gnomadHetCount_afr=11;gnomadHetCount_amr=54;gnomadHetCount_asj=0;gnomadHetCount_eas=1;gnomadHetCount_sas=108;gnomadHetCount_nfe=137;gnomadHetCount_fin=3;gnomadHetCount_oth=8;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=8.08383;varMaxEntScore=8.08383;deltaSSFscorePercent=0.0;wtSSFScore=81.8792;varSSFScore=81.8792;deltaNNSscorePercent=0.0;wtNNSScore=0.970718;varNNSScore=0.970718;nearestSSChange=0.0;distNearestSS=-31;nearestSSType=3';localSpliceEffect=Cryptic Acceptor Strongly Activated;localSpliceAnnotation=.;localSS_pos=112778979.0;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=0.603035;localSS_wtNNSScore=0.004797;localSS_varNNSScore=0.011732;localSS_wtSSFScore=64.8278;localSS_varSSFScore=68.9297;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=-1.005;phastCons=0.0;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=40;annotationAnalysis=yes;avgTotalDepth=177;sdTotalDepth=6;countTotalDepth=2;avgVariantDepth=50;sdVariantDepth=31;countVariantDepth=2;familyBarcode='1';barcode='00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000010000000000000000000000000000000000000000000000000000000000000100000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=2;alleleCount=2;sampleCount=446;alleleFrequency=0.0022;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=MERTK;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=604705.0;Phenotypes=Retinitis pigmentosa 38, 613862 (3) AR;Inheritance=AR;synZ=0.689301380653179;misZ=-0.444660206300317;pLI=6.85867508459746e-07;HI_percent=61.44	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:183:102,81:0.44:2/2:110:2
chr20	21186161	rs11087346	A	AG	8230.73	PASS	variantID=20_21186161_-_G;gene=KIZ/KIZ-AS1;geneDesc=Kizuna centrosomal protein;omimId=615757;transcript=NM_018474.4;strand=1;transLen=2201;cdsLen=2022;protein=NP_060944.3;Uniprot=Q2M2Z5;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=duplication;codingEffect=frameshift;varLocation=exon;assembly=NG_033122.1;exon=7;intron=.;gDNAstart=84541;gDNAend=84542;gNomen=NG_033122.1:g.84541dup;cDNAstart=1387;cDNAend=1387;cNomen=c.1387dup;pNomen=p.Ala463Glyfs*14;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs11087346;rsValidations=Frequency/1000G;rsValidationNumber=2.0;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0.0002;rsMAFAllele=A;rsMAFCount=1;1000g_AF=0.9998;1000g_AFR_AF=0.9992;1000g_SAS_AF=1;1000g_EAS_AF=1;1000g_EUR_AF=1;1000g_AMR_AF=1;gnomadAltFreq_all=0.99971;gnomadAltFreq_afr=0.998354;gnomadAltFreq_amr=0.999937;gnomadAltFreq_asj=1;gnomadAltFreq_eas=0.998537;gnomadAltFreq_sas=0.999846;gnomadAltFreq_nfe=0.999954;gnomadAltFreq_fin=1;gnomadAltFreq_oth=1;gnomadAltFreq_popmax=1;gnomadHomCount_all=122335;gnomadHomCount_afr=10594;gnomadHomCount_amr=15799;gnomadHomCount_asj=4857;gnomadHomCount_eas=8518;gnomadHomCount_sas=12956;gnomadHomCount_nfe=54776;gnomadHomCount_fin=11579;gnomadHomCount_oth=3256;gnomadHetCount_all=71;gnomadHetCount_afr=35;gnomadHetCount_amr=2;gnomadHetCount_asj=0;gnomadHetCount_eas=25;gnomadHetCount_sas=4;gnomadHetCount_nfe=5;gnomadHetCount_fin=0;gnomadHetCount_oth=0;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.79467;varMaxEntScore=9.79467;deltaSSFscorePercent=0.0;wtSSFScore=88.0982;varSSFScore=88.0982;deltaNNSscorePercent=0.0;wtNNSScore=0.993552;varNNSScore=0.993552;nearestSSChange=0.0;distNearestSS=35;nearestSSType=3';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=.;phastCons=.;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=100;annotationAnalysis=yes;avgTotalDepth=211;sdTotalDepth=102;countTotalDepth=292;avgVariantDepth=211;sdVariantDepth=101;countVariantDepth=292;familyBarcode='2';barcode='2222202022020202202022222222222222222222222222222222222222222222222222222222220002020022222222222002202202202222202220000220200211222002220002202222000220222220002220220002222222022220202222222022202220002220222202220222222222222022222002222222020220222222220022222220000022022022000222220220220222222002200222022022222222222022222220220202000002000020000000022000020220222022020202022222222222022002000020020000000200000000000000020022022';homCount=290;hetCount=2;alleleCount=582;sampleCount=439;alleleFrequency=0.6629;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=KIZ;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=615757.0;Phenotypes=Retinitis pigmentosa 69, 615780 (3);Inheritance=AR;synZ=.;misZ=.;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	1/1:175:0,175:1.0:2/2:211:1
chr3	100948376	rs367651705	G	T	5876.77	PASS	variantID=3_100948376_G_T;gene=IMPG2;geneDesc=Interphotoreceptor matrix proteoglycan 2;omimId=607056;transcript=NM_016247.3;strand=-1;transLen=8352;cdsLen=3726;protein=NP_057331.2;Uniprot=Q9BZV3;posAA=1161.0;wtAA_1=P;wtCodon=CCC;varAA_1=T;varType=substitution;codingEffect=missense;varLocation=exon;assembly=GRCh37;exon=17;intron=.;gDNAstart=100948376;gDNAend=100948376;gNomen=Chr3(GRCh37):g.100948376G>T;cDNAstart=3481;cDNAend=3481;cNomen=c.3481C>A;pNomen=p.Pro1161Thr;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs367651705;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=G;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.000042;gnomadAltFreq_afr=0;gnomadAltFreq_amr=0;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.000085;gnomadAltFreq_fin=0;gnomadAltFreq_oth=0.000139;gnomadAltFreq_popmax=0.000085;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=12;gnomadHetCount_afr=0;gnomadHetCount_amr=0;gnomadHetCount_asj=0;gnomadHetCount_eas=0;gnomadHetCount_sas=0;gnomadHetCount_nfe=11;gnomadHetCount_fin=0;gnomadHetCount_oth=1;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=8.38884;varMaxEntScore=8.38884;deltaSSFscorePercent=0.0;wtSSFScore=84.093;varSSFScore=84.093;deltaNNSscorePercent=0.0;wtNNSScore=0.842876;varNNSScore=0.842876;nearestSSChange=0.0;distNearestSS=59;nearestSSType=3';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=Deleterious;SIFTweight=0.04;SIFTmedian=3.39;PPH2pred=.;phyloP=6.016;phastCons=1.0;granthamDist=38.0;AGVGDclass=C0;AGVGDgv=76.2771;AGVGDgd=8.92749;varankVarScore=60;annotationAnalysis=yes;avgTotalDepth=471;sdTotalDepth=0;countTotalDepth=1;avgVariantDepth=229;sdVariantDepth=0;countVariantDepth=1;familyBarcode='1';barcode='000000000000000000000000000000000000000000000010000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=1;alleleCount=1;sampleCount=423;alleleFrequency=0.0012;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=IMPG2;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=607056.0;Phenotypes=Macular dystrophy, vitelliform, 5, 616152 (3)/ Retinitis pigmentosa 56, 613581 (3);Inheritance=AD/AR;synZ=-0.411956854269278;misZ=-1.0311101968585;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:471:242,229:0.49:2/2:11:2
chr3	101039061	rs905854863	A	G	465.77	PASS	variantID=3_101039061_A_G;gene=IMPG2;geneDesc=Interphotoreceptor matrix proteoglycan 2;omimId=607056;transcript=NM_016247.3;strand=-1;transLen=8352;cdsLen=3726;protein=NP_057331.2;Uniprot=Q9BZV3;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=1;intron=1.0;gDNAstart=101039061;gDNAend=101039061;gNomen=Chr3(GRCh37):g.101039061A>G;cDNAstart=85+71;cDNAend=85+71;cNomen=c.85+71T>C;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs905854863;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=A;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.000064;gnomadAltFreq_afr=0;gnomadAltFreq_amr=0;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.00013;gnomadAltFreq_fin=0;gnomadAltFreq_oth=0;gnomadAltFreq_popmax=0.00013;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=2;gnomadHetCount_afr=0;gnomadHetCount_amr=0;gnomadHetCount_asj=0;gnomadHetCount_eas=0;gnomadHetCount_sas=0;gnomadHetCount_nfe=2;gnomadHetCount_fin=0;gnomadHetCount_oth=0;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=645880;gnomadOrigin=Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=7.51416;varMaxEntScore=7.51416;deltaSSFscorePercent=0.0;wtSSFScore=77.4336;varSSFScore=77.4336;deltaNNSscorePercent=0.0;wtNNSScore=0.596836;varNNSScore=0.596836;nearestSSChange=0.0;distNearestSS=71;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=0.69;phastCons=0.039;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=2;annotationAnalysis=yes;avgTotalDepth=38;sdTotalDepth=8;countTotalDepth=2;avgVariantDepth=15;sdVariantDepth=1;countVariantDepth=2;familyBarcode='1';barcode='000000000000000000000000000000000000000000000010000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000001000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=2;alleleCount=2;sampleCount=423;alleleFrequency=0.0024;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=IMPG2;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa;Mim Number=607056.0;Phenotypes=Macular dystrophy, vitelliform, 5, 616152 (3)/ Retinitis pigmentosa 56, 613581 (3);Inheritance=AD/AR;synZ=-0.411956854269278;misZ=-1.0311101968585;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:30:16,14:0.47:2/2:11:2
chr4	15504102	rs370014549	A	C	2735.77	PASS	variantID=4_15504102_A_C;gene=CC2D2A;geneDesc=Coiled-coil and C2 domain containing 2A;omimId=612013;transcript=NM_001080522.2;strand=1;transLen=5240;cdsLen=4863;protein=NP_001073991.2;Uniprot=Q9P2K1;posAA=100.0;wtAA_1=M;wtCodon=ATG;varAA_1=L;varType=substitution;codingEffect=missense;varLocation=exon;assembly=GRCh37;exon=6;intron=.;gDNAstart=15504102;gDNAend=15504102;gNomen=Chr4(GRCh37):g.15504102A>C;cDNAstart=298;cDNAend=298;cNomen=c.298A>C;pNomen=p.Met100Leu;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs370014549;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=A;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.00002;gnomadAltFreq_afr=0.00013;gnomadAltFreq_amr=0;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.000009;gnomadAltFreq_fin=0;gnomadAltFreq_oth=0.000335;gnomadAltFreq_popmax=0.00013;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=5;gnomadHetCount_afr=2;gnomadHetCount_amr=0;gnomadHetCount_asj=0;gnomadHetCount_eas=0;gnomadHetCount_sas=0;gnomadHetCount_nfe=1;gnomadHetCount_fin=0;gnomadHetCount_oth=2;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=7501552;gnomadOrigin=Exomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=6.64637;varMaxEntScore=6.64637;deltaSSFscorePercent=0.0;wtSSFScore=81.0413;varSSFScore=81.0413;deltaNNSscorePercent=0.0;wtNNSScore=0.462883;varNNSScore=0.462883;nearestSSChange=0.0;distNearestSS=-39;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=Tolerated;SIFTweight=0.79;SIFTmedian=3.49;PPH2pred=.;phyloP=1.658;phastCons=1.0;granthamDist=15.0;AGVGDclass=C0;AGVGDgv=253.501;AGVGDgd=12.947;varankVarScore=55;annotationAnalysis=yes;avgTotalDepth=205;sdTotalDepth=91;countTotalDepth=3;avgVariantDepth=89;sdVariantDepth=36;countVariantDepth=3;familyBarcode='1';barcode='00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000010010000000000000000100000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=3;alleleCount=3;sampleCount=446;alleleFrequency=0.0034;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=CC2D2A;Disease_Acronym=MKS6, JBTS9;Disease_Name_RetNet=Syndromic/systemic diseases with retinopathy;Mim Number=612013.0;Phenotypes=COACH syndrome 2, 619111 (3),Joubert syndrome 9, 612285 (3) AR,Meckel syndrome 6, 612284 (3) AR;Inheritance=AR;synZ=-0.416721788032135;misZ=-2.04021351839583;pLI=5.39585643475696e-13;HI_percent=79.39	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:231:113,118:0.51:2/2:11:1
chr5	178416209	rs12652775	C	A	881.77	PASS	variantID=5_178416209_C_A;gene=GRM6;geneDesc=Glutamate receptor, metabotropic 6;omimId=604096;transcript=NM_000843.3;strand=-1;transLen=6143;cdsLen=2634;protein=NP_000834.2;Uniprot=O15303;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=5;intron=5.0;gDNAstart=178416209;gDNAend=178416209;gNomen=Chr5(GRCh37):g.178416209C>A;cDNAstart=1153+57;cDNAend=1153+57;cNomen=c.1153+57G>T;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs12652775;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=C;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.004219;gnomadAltFreq_afr=0.003578;gnomadAltFreq_amr=0.005771;gnomadAltFreq_asj=0.007643;gnomadAltFreq_eas=0.007002;gnomadAltFreq_sas=0.002432;gnomadAltFreq_nfe=0.003682;gnomadAltFreq_fin=0.003562;gnomadAltFreq_oth=0.004299;gnomadAltFreq_popmax=0.007643;gnomadHomCount_all=22;gnomadHomCount_afr=3;gnomadHomCount_amr=0;gnomadHomCount_asj=2;gnomadHomCount_eas=1;gnomadHomCount_sas=0;gnomadHomCount_nfe=13;gnomadHomCount_fin=0;gnomadHomCount_oth=3;gnomadHetCount_all=766;gnomadHetCount_afr=54;gnomadHetCount_amr=147;gnomadHetCount_asj=61;gnomadHetCount_eas=93;gnomadHetCount_sas=55;gnomadHetCount_nfe=273;gnomadHetCount_fin=66;gnomadHetCount_oth=17;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=RF;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.21919;varMaxEntScore=9.21919;deltaSSFscorePercent=0.0;wtSSFScore=90.3087;varSSFScore=90.3087;deltaNNSscorePercent=0.0;wtNNSScore=0.935006;varNNSScore=0.935006;nearestSSChange=0.0;distNearestSS=57;nearestSSType=5';localSpliceEffect=New Donor Site;localSpliceAnnotation=.;localSS_pos=178416211.0;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=6.12664;localSS_wtNNSScore=.;localSS_varNNSScore=0.153948;localSS_wtSSFScore=.;localSS_varSSFScore=79.0531;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=-3.265;phastCons=0.0;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=40;annotationAnalysis=yes;avgTotalDepth=50;sdTotalDepth=27;countTotalDepth=133;avgVariantDepth=31;sdVariantDepth=21;countVariantDepth=133;familyBarcode='1';barcode='000020001002222221111110011201121000210101000101000210001001000021112100000110200010000011000000000101100200000000000020000100002000000000210000000110100000010100100000000010000001000120000100110010000000001101000000010020010002000010001000100000100000011000100000010000102111011000210000020220102111020100011210001000000000000002020010110100020201100000001001001000100020000001100000000000000000001001010101010211220000000';homCount=37;hetCount=96;alleleCount=170;sampleCount=423;alleleFrequency=0.2009;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=GRM6;Disease_Acronym=RP;Disease_Name_RetNet=Congenital stationary night blindness;Mim Number=604096.0;Phenotypes=Night blindness, congenital stationary (complete), 1B, AR, 257270 (3);Inheritance=AR;synZ=-0.0376646267104133;misZ=-0.353650575251018;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:66:34,32:0.48:1/2:1:3
chr5	178416218	rs2856360	A	C	415.77	PASS	variantID=5_178416218_A_C;gene=GRM6;geneDesc=Glutamate receptor, metabotropic 6;omimId=604096;transcript=NM_000843.3;strand=-1;transLen=6143;cdsLen=2634;protein=NP_000834.2;Uniprot=O15303;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=5;intron=5.0;gDNAstart=178416218;gDNAend=178416218;gNomen=Chr5(GRCh37):g.178416218A>C;cDNAstart=1153+48;cDNAend=1153+48;cNomen=c.1153+48T>G;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs2856360;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=A;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.016138;gnomadAltFreq_afr=0.008216;gnomadAltFreq_amr=0.034371;gnomadAltFreq_asj=0.009427;gnomadAltFreq_eas=0.046998;gnomadAltFreq_sas=0.011529;gnomadAltFreq_nfe=0.010875;gnomadAltFreq_fin=0.012947;gnomadAltFreq_oth=0.021652;gnomadAltFreq_popmax=0.046998;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=1674;gnomadHetCount_afr=55;gnomadHetCount_amr=413;gnomadHetCount_asj=54;gnomadHetCount_eas=310;gnomadHetCount_sas=182;gnomadHetCount_nfe=517;gnomadHetCount_fin=89;gnomadHetCount_oth=54;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=RF;gnomadReadDepth=0;gnomadOrigin=Exomes+Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.21919;varMaxEntScore=9.21919;deltaSSFscorePercent=0.0;wtSSFScore=90.3087;varSSFScore=90.3087;deltaNNSscorePercent=0.0;wtNNSScore=0.935006;varNNSScore=0.935006;nearestSSChange=0.0;distNearestSS=48;nearestSSType=5';localSpliceEffect=Cryptic Donor Strongly Activated;localSpliceAnnotation=.;localSS_pos=178416223.0;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=2.20553;localSS_wtNNSScore=0.001767;localSS_varNNSScore=0.023613;localSS_wtSSFScore=58.8781;localSS_varSSFScore=71.2708;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=0.044;phastCons=0.039;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=40;annotationAnalysis=yes;avgTotalDepth=25;sdTotalDepth=14;countTotalDepth=179;avgVariantDepth=12;sdVariantDepth=8;countVariantDepth=179;familyBarcode='1';barcode='000010001001211111111110011101111010110101001101000110001001000021111100000110100010011011100001010111100110000010000110001100001010010000010000000110100100010101001000000010101001010120011110111010001001011111000010010010220002100110011010100000100000011010101100010100111111011010210011021110111111120110111110001000000000000001010010011100010101100100001001001000100010000001100000000000000000001001010101010111210000000';homCount=10;hetCount=169;alleleCount=189;sampleCount=423;alleleFrequency=0.2234;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=GRM6;Disease_Acronym=RP;Disease_Name_RetNet=Congenital stationary night blindness;Mim Number=604096.0;Phenotypes=Night blindness, congenital stationary (complete), 1B, AR, 257270 (3);Inheritance=AR;synZ=-0.0376646267104133;misZ=-0.353650575251018;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:42:27,15:0.36:1/2:1:3
chr5	178421768	rs751696722	GCTGCCCGCACGCC	G	34759.7	PASS	variantID=5_178421769_CTGCCCGCACGCC_-;gene=GRM6;geneDesc=Glutamate receptor, metabotropic 6;omimId=604096;transcript=NM_000843.3;strand=-1;transLen=6143;cdsLen=2634;protein=NP_000834.2;Uniprot=O15303;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=deletion;codingEffect=stop gain;varLocation=exon;assembly=GRCh37;exon=1;intron=.;gDNAstart=178421769;gDNAend=178421781;gNomen=Chr5(GRCh37):g.178421769_178421781del;cDNAstart=165;cDNAend=177;cNomen=c.165_177del;pNomen=p.Ala56*;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs751696722;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=CGGCCCGCACGCC;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.000014;gnomadAltFreq_afr=0;gnomadAltFreq_amr=0;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.000038;gnomadAltFreq_fin=0;gnomadAltFreq_oth=0;gnomadAltFreq_popmax=0.000038;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=1;gnomadHetCount_afr=0;gnomadHetCount_amr=0;gnomadHetCount_asj=0;gnomadHetCount_eas=0;gnomadHetCount_sas=0;gnomadHetCount_nfe=1;gnomadHetCount_fin=0;gnomadHetCount_oth=0;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=1827740;gnomadOrigin=Exomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=7.92791;varMaxEntScore=7.92791;deltaSSFscorePercent=0.0;wtSSFScore=78.6499;varSSFScore=78.6499;deltaNNSscorePercent=0.0;wtNNSScore=0.89468;varNNSScore=0.89468;nearestSSChange=0.0;distNearestSS=-328;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=Periplasmic binding protein-like I;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=.;phastCons=.;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=100;annotationAnalysis=yes;avgTotalDepth=505;sdTotalDepth=0;countTotalDepth=1;avgVariantDepth=240;sdVariantDepth=0;countVariantDepth=1;familyBarcode='1';barcode='000000000000000000000000000000000000000100000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=0;hetCount=1;alleleCount=1;sampleCount=423;alleleFrequency=0.0012;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=GRM6;Disease_Acronym=RP;Disease_Name_RetNet=Congenital stationary night blindness;Mim Number=604096.0;Phenotypes=Night blindness, congenital stationary (complete), 1B, AR, 257270 (3);Inheritance=AR;synZ=-0.0376646267104133;misZ=-0.353650575251018;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:505:265,240:0.48:2/2:11:3
chr8	42995624	rs1215061130	C	CGAGCGGGCGGCGGGCAT	3062.73	PASS	variantID=8_42995624_-_GAGCGGGCGGCGGGCAT;gene=HGSNAT;geneDesc=Heparan-alpha-glucosaminide N-acetyltransferase;omimId=610453;transcript=NM_152419.3;strand=1;transLen=5227;cdsLen=1908;protein=NP_689632.2;Uniprot=.;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=duplication;codingEffect=frameshift;varLocation=exon;assembly=GRCh37;exon=1;intron=.;gDNAstart=42995648;gDNAend=42995649;gNomen=Chr8(GRCh37):g.42995632_42995648dup;cDNAstart=-8;cDNAend=9;cNomen=c.-8_9dup;pNomen=p.Ala4Argfs*4;clinVarIds=RCV000588128.2;clinVarOrigins=germline;clinVarMethods=clinical testing;clinVarClinSignifs=Likely benign;clinVarReviewStatus=0;clinVarPhenotypes=not specified;rsId=rs1215061130;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=0.001261;gnomadAltFreq_afr=0.000611;gnomadAltFreq_amr=0;gnomadAltFreq_asj=0;gnomadAltFreq_eas=0;gnomadAltFreq_sas=0;gnomadAltFreq_nfe=0.001973;gnomadAltFreq_fin=0.00076;gnomadAltFreq_oth=0;gnomadAltFreq_popmax=0.001973;gnomadHomCount_all=0;gnomadHomCount_afr=0;gnomadHomCount_amr=0;gnomadHomCount_asj=0;gnomadHomCount_eas=0;gnomadHomCount_sas=0;gnomadHomCount_nfe=0;gnomadHomCount_fin=0;gnomadHomCount_oth=0;gnomadHetCount_all=33;gnomadHetCount_afr=5;gnomadHetCount_amr=0;gnomadHetCount_asj=0;gnomadHetCount_eas=0;gnomadHetCount_sas=0;gnomadHetCount_nfe=27;gnomadHetCount_fin=1;gnomadHetCount_oth=0;gnomadHemCount_all=0;gnomadHemCount_afr=0;gnomadHemCount_amr=0;gnomadHemCount_asj=0;gnomadHemCount_eas=0;gnomadHemCount_sas=0;gnomadHemCount_nfe=0;gnomadHemCount_fin=0;gnomadHemCount_oth=0;gnomadFilter=PASS;gnomadReadDepth=414091;gnomadOrigin=Genomes;deltaMaxEntScorePercent=0.0;wtMaxEntScore=10.0326;varMaxEntScore=10.0326;deltaSSFscorePercent=0.0;wtSSFScore=92.583;varSSFScore=92.583;deltaNNSscorePercent=0.0;wtNNSScore=0.996215;varNNSScore=0.996215;nearestSSChange=0.0;distNearestSS=-109;nearestSSType=5';localSpliceEffect=.;localSpliceAnnotation=.;localSS_pos=.;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=.;localSS_wtNNSScore=.;localSS_varNNSScore=.;localSS_wtSSFScore=.;localSS_varSSFScore=.;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=.;phastCons=.;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=100;annotationAnalysis=yes;avgTotalDepth=22;sdTotalDepth=15;countTotalDepth=4;avgVariantDepth=9;sdVariantDepth=6;countVariantDepth=4;familyBarcode='1';barcode='00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000100000000000000000000000000000000000000000000000000000000000002000000000000000000000000000000000110000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=1;hetCount=3;alleleCount=5;sampleCount=446;alleleFrequency=0.0056;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=HGSNAT;Disease_Acronym=RP;Disease_Name_RetNet=Retinitis pigmentosa, Mucopolysaccharidosis;Mim Number=610453.0;Phenotypes=Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) AR,Retinitis pigmentosa 73, 616544 (3) AR;Inheritance=AR;synZ=-0.604249039490035;misZ=-0.444678714336031;pLI=2.89198388214599e-06;HI_percent=68.49	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:40:23,17:0.42:2/2:11:1
chr9	103035430	.	T	G	36.77	PASS	variantID=9_103035430_T_G;gene=INVS;geneDesc=Inversin;omimId=243305;transcript=NM_001318381.1;strand=1;transLen=5043;cdsLen=2910;protein=NP_001305310.1;Uniprot=.;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=intron;assembly=GRCh37;exon=13;intron=13.0;gDNAstart=103035430;gDNAend=103035430;gNomen=Chr9(GRCh37):g.103035430T>G;cDNAstart=1496+72;cDNAend=1496+72;cNomen=c.1496+72T>G;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=.;rsValidations=.;rsValidationNumber=.;rsAncestralAllele=.;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=-1;rsMAFAllele=.;rsMAFCount=-1;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=-1;gnomadAltFreq_afr=-1;gnomadAltFreq_amr=-1;gnomadAltFreq_asj=-1;gnomadAltFreq_eas=-1;gnomadAltFreq_sas=-1;gnomadAltFreq_nfe=-1;gnomadAltFreq_fin=-1;gnomadAltFreq_oth=-1;gnomadAltFreq_popmax=-1;gnomadHomCount_all=-1;gnomadHomCount_afr=-1;gnomadHomCount_amr=-1;gnomadHomCount_asj=-1;gnomadHomCount_eas=-1;gnomadHomCount_sas=-1;gnomadHomCount_nfe=-1;gnomadHomCount_fin=-1;gnomadHomCount_oth=-1;gnomadHetCount_all=-1;gnomadHetCount_afr=-1;gnomadHetCount_amr=-1;gnomadHetCount_asj=-1;gnomadHetCount_eas=-1;gnomadHetCount_sas=-1;gnomadHetCount_nfe=-1;gnomadHetCount_fin=-1;gnomadHetCount_oth=-1;gnomadHemCount_all=-1;gnomadHemCount_afr=-1;gnomadHemCount_amr=-1;gnomadHemCount_asj=-1;gnomadHemCount_eas=-1;gnomadHemCount_sas=-1;gnomadHemCount_nfe=-1;gnomadHemCount_fin=-1;gnomadHemCount_oth=-1;gnomadFilter=.;gnomadReadDepth=-1;gnomadOrigin=.;deltaMaxEntScorePercent=0.0;wtMaxEntScore=10.0774;varMaxEntScore=10.0774;deltaSSFscorePercent=0.0;wtSSFScore=87.864;varSSFScore=87.864;deltaNNSscorePercent=0.0;wtNNSScore=0.985662;varNNSScore=0.985662;nearestSSChange=0.0;distNearestSS=72;nearestSSType=5';localSpliceEffect=Cryptic Donor Strongly Activated;localSpliceAnnotation=.;localSS_pos=103035425.0;localSS_wtMaxEntScore=.;localSS_varMaxEntScore=2.8429;localSS_wtNNSScore=0.001814;localSS_varNNSScore=0.027015;localSS_wtSSFScore=55.4254;localSS_varSSFScore=67.8181;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=0.448;phastCons=0.0;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=40;annotationAnalysis=yes;avgTotalDepth=43;sdTotalDepth=21;countTotalDepth=90;avgVariantDepth=16;sdVariantDepth=8;countVariantDepth=90;familyBarcode='1';barcode='000001000000000010000000100110100100000000010010010001000000000100000000101001000000100000001001000000011000000000000000000001000010000110000110100000000000000000000000010000000010111000000100000100001000000000001011000000000000001001000010010000000111011100010010001021000001100100001000100001000000001000100001000010101100110100001001000010101010000000000110110000000010100000000000010001000010100001011000101000000000000';homCount=1;hetCount=89;alleleCount=91;sampleCount=423;alleleFrequency=0.1076;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=INVS;Disease_Acronym=NPHP2;Disease_Name_RetNet=Syndromic/systemic diseases with retinopathy;Mim Number=243305.0;Phenotypes=Nephronophthisis 2, infantile, 602088 (3);Inheritance=AR;synZ=-0.173499360500531;misZ=0.83534026352955;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	0/1:44:32,12:0.27:1/2:1:1
chrX	38080128	rs1420920375	T	C	15438.8	PASS	variantID=X_38080128_T_C;gene=SRPX;geneDesc=Sushi-repeat-containing protein, X-linked;omimId=300187;transcript=NM_006307.4;strand=-1;transLen=1903;cdsLen=1395;protein=NP_006298.1;Uniprot=P78539;posAA=.;wtAA_1=.;wtCodon=.;varAA_1=.;varType=substitution;codingEffect=.;varLocation=5'UTR;assembly=GRCh37;exon=1;intron=.;gDNAstart=38080128;gDNAend=38080128;gNomen=ChrX(GRCh37):g.38080128T>C;cDNAstart=-83;cDNAend=-83;cNomen=c.-83A>G;pNomen=p.?;clinVarIds=.;clinVarOrigins=.;clinVarMethods=.;clinVarClinSignifs=.;clinVarReviewStatus=.;clinVarPhenotypes=.;rsId=rs1420920375;rsValidations=Frequency;rsValidationNumber=1.0;rsAncestralAllele=T;rsHeterozygosity=.;rsClinicalSignificance=.;rsMAF=0;rsMAFAllele=.;rsMAFCount=0;1000g_AF=-1;1000g_AFR_AF=-1;1000g_SAS_AF=-1;1000g_EAS_AF=-1;1000g_EUR_AF=-1;1000g_AMR_AF=-1;gnomadAltFreq_all=-1;gnomadAltFreq_afr=-1;gnomadAltFreq_amr=-1;gnomadAltFreq_asj=-1;gnomadAltFreq_eas=-1;gnomadAltFreq_sas=-1;gnomadAltFreq_nfe=-1;gnomadAltFreq_fin=-1;gnomadAltFreq_oth=-1;gnomadAltFreq_popmax=-1;gnomadHomCount_all=-1;gnomadHomCount_afr=-1;gnomadHomCount_amr=-1;gnomadHomCount_asj=-1;gnomadHomCount_eas=-1;gnomadHomCount_sas=-1;gnomadHomCount_nfe=-1;gnomadHomCount_fin=-1;gnomadHomCount_oth=-1;gnomadHetCount_all=-1;gnomadHetCount_afr=-1;gnomadHetCount_amr=-1;gnomadHetCount_asj=-1;gnomadHetCount_eas=-1;gnomadHetCount_sas=-1;gnomadHetCount_nfe=-1;gnomadHetCount_fin=-1;gnomadHetCount_oth=-1;gnomadHemCount_all=-1;gnomadHemCount_afr=-1;gnomadHemCount_amr=-1;gnomadHemCount_asj=-1;gnomadHemCount_eas=-1;gnomadHemCount_sas=-1;gnomadHemCount_nfe=-1;gnomadHemCount_fin=-1;gnomadHemCount_oth=-1;gnomadFilter=.;gnomadReadDepth=-1;gnomadOrigin=.;deltaMaxEntScorePercent=0.0;wtMaxEntScore=9.78584;varMaxEntScore=9.78584;deltaSSFscorePercent=0.0;wtSSFScore=84.5905;varSSFScore=84.5905;deltaNNSscorePercent=0.0;wtNNSScore=0.946835;varNNSScore=0.946835;nearestSSChange=0.0;distNearestSS=-180;nearestSSType=5';localSpliceEffect=Cryptic Acceptor Strongly Activated;localSpliceAnnotation=.;localSS_pos=38080129.0;localSS_wtMaxEntScore=4.29187;localSS_varMaxEntScore=5.0384;localSS_wtNNSScore=0.080034;localSS_varNNSScore=0.107719;localSS_wtSSFScore=61.7336;localSS_varSSFScore=61.7336;branchPointPos=.;branchPointChange=.;proteinDomain1=.;proteinDomain2=.;proteinDomain3=.;proteinDomain4=.;SIFTprediction=.;SIFTweight=.;SIFTmedian=.;PPH2pred=.;phyloP=0.044;phastCons=0.0;granthamDist=.;AGVGDclass=.;AGVGDgv=.;AGVGDgd=.;varankVarScore=40;annotationAnalysis=yes;avgTotalDepth=507;sdTotalDepth=0;countTotalDepth=1;avgVariantDepth=507;sdVariantDepth=0;countVariantDepth=1;familyBarcode='2';barcode='000000000000000000000000000000000000000000000020000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000';homCount=1;hetCount=0;alleleCount=2;sampleCount=423;alleleFrequency=0.0024;samVa=2_SGT000001 2_ASG000002 2_SGT000002 ...;GenotypeConcordance=True;genes=SRPX;Disease_Acronym=RP;Disease_Name_RetNet=.;Mim Number=.;Phenotypes=.;Inheritance=.;synZ=-0.257647411275143;misZ=-1.50170340649848;pLI=.;HI_percent=.	GT:DP:AD:VAF:FindByPipelines:POOL_barcode:GMC	1/1:507:0,507:1.0:2/2:22:1
