##fileformat=VCFv4.2 ##FILTER= ##INFO= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##varlociraptor_preprocess_args={"Preprocess":{"kind":{"Variants":{"reference":"refs/genome.fasta","candidates":"candidate-calls/83730-12.freebayes.bcf","bam":"recal/83730-12.sorted.bam","alignment_properties":null,"output":"observations/83730-12/83730-12.freebayes.bcf","spurious_ins_rate":2.8e-6,"spurious_del_rate":5.1e-6,"spurious_insext_rate":0.0,"spurious_delext_rate":0.0,"protocol_strandedness":"Opposite","omit_snvs":false,"omit_indels":false,"max_indel_len":1000,"indel_window":64,"max_depth":200}}}} ##varlociraptor_observation_format_version=2 ##INFO= ##INFO= ##INFO= ##INFO= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##bcftools_concatVersion=1.9+htslib-1.9 ##bcftools_concatCommand=concat -a -Ob -o calls/83730-12.bcf calls/83730-12.freebayes.bcf calls/83730-12.delly.bcf; Date=Mon Jan 13 19:20:23 2020 ##bcftools_viewVersion=1.9+htslib-1.9 ##bcftools_viewCommand=view calls/83730-12.bcf; Date=Tue Jan 14 21:06:11 2020 ##bcftools_viewCommand=view /dev/fd/63; Date=Tue Jan 14 21:06:11 2020 ##SnpEffVersion="4.3t (build 2017-11-24 10:18), by Pablo Cingolani" ##SnpEffCmd="SnpEff -stats snpeff/83730-12.html -csvStats snpeff/83730-12.csv GRCh38.86 " ##INFO= ##INFO= ##INFO= ##bcftools_viewCommand=view -Ob; Date=Tue Jan 14 21:07:57 2020 ##bcftools_viewCommand=view calls/83730-12.annotated.bcf; Date=Tue Jan 14 22:58:39 2020 ##SnpSiftVersion="SnpSift 4.3t (build 2017-11-24 10:18), by Pablo Cingolani" ##SnpSiftCmd="SnpSift Annotate -name known_ refs/variation.vcf.gz /dev/stdin" ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##bcftools_viewCommand=view -Ob; Date=Tue Jan 14 22:58:42 2020 ##bcftools_viewCommand=view calls/83730-12.annotated.db-annotated.bcf; Date=Wed Jan 15 08:21:01 2020 ##SnpSiftCmd="SnpSift DbNsfp -f MetaSVM_score,MetaLR_score,M-CAP_score,REVEL_score,MutPred_score,PrimateAI_score,DEOGEN2_score,LRT_score,Uniprot_entry,MutationAssessor_score,Uniprot_acc,Polyphen2_HDIV_score,Polyphen2_HVAR_score,Ensembl_proteinid,FATHMM_score,PROVEAN_score,SIFT_score,Ensembl_transcriptid,VEST4_score,SIFT4G_score,MVP_score,MPC_score,MutationTaster_score /dev/stdin" ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##bcftools_viewCommand=view -Ob; Date=Wed Jan 15 08:21:02 2020 ##bcftools_viewCommand=view calls/83730-12.annotated.db-annotated.dbnsfp.bcf; Date=Wed Jan 15 10:40:14 2020 ##SnpSiftCmd="SnpSift Filter 'exists known_CLIN_pathogenic'" ##FILTER= ##bcftools_viewCommand=view -Ob; Date=Wed Jan 15 10:40:15 2020 ##bcftools_viewCommand=view 83730-12.pathogenic.filtered.bcf; Date=Thu Apr 16 16:27:35 2020 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 83730-12 1 22647250 rs377549148 C T . . SVLEN=.;PROB_ARTIFACT=20.8929;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=30.3693;PROB_PRESENT=0.0395264;ANN=T|stop_gained|HIGH|C1QC|ENSG00000159189|transcript|ENST00000374640.8|protein_coding|3/3|c.205C>T|p.Arg69*|303/1163|205/738|69/245||,T|stop_gained|HIGH|C1QC|ENSG00000159189|transcript|ENST00000374639.7|protein_coding|3/3|c.205C>T|p.Arg69*|323/1183|205/738|69/245||,T|stop_gained|HIGH|C1QC|ENSG00000159189|transcript|ENST00000374637.1|protein_coding|3/3|c.205C>T|p.Arg69*|452/1089|205/738|69/245||;known_AA=C;known_CLIN_pathogenic;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000363771,ENSP00000363770,ENSP00000363768;dbNSFP_Ensembl_transcriptid=ENST00000374640,ENST00000374639,ENST00000374637;dbNSFP_LRT_score=0.769604;dbNSFP_MutationTaster_score=1,1,1;dbNSFP_Uniprot_acc=P02747,P02747,P02747;dbNSFP_Uniprot_entry=C1QC_HUMAN,C1QC_HUMAN,C1QC_HUMAN;dbNSFP_VEST4_score=0.635,0.635,0.662 DP:AF:OBS:SB 24:0.0833333:13N+9N-1V-1V+:. 1 39967632 rs1057519087 C T . . SVLEN=.;PROB_ARTIFACT=5.92223;PROB_ABSENT=5.0819;PROB_FFPE_ARTIFACT=inf;PROB_PRESENT=3.62557;ANN=T|missense_variant|MODERATE|MFSD2A|ENSG00000168389|transcript|ENST00000372811.9|protein_coding|10/14|c.1016C>T|p.Ser339Leu|1179/2154|1016/1593|339/530||,T|missense_variant|MODERATE|MFSD2A|ENSG00000168389|transcript|ENST00000372809.5|protein_coding|10/14|c.1055C>T|p.Ser352Leu|1198/2173|1055/1632|352/543||,T|missense_variant|MODERATE|MFSD2A|ENSG00000168389|transcript|ENST00000420632.6|protein_coding|8/12|c.548C>T|p.Ser183Leu|937/1914|548/1125|183/374||,T|downstream_gene_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000434861.5|protein_coding||c.*941C>T|||||941|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000469745.5|processed_transcript||n.*463C>T|||||463|,T|downstream_gene_variant|MODIFIER|RP3-342P20.2|ENSG00000228477|transcript|ENST00000438210.1|processed_pseudogene||n.*4228C>T|||||4228|,T|intron_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000483824.5|processed_transcript|9/11|n.1146+463C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000480630.5|processed_transcript|5/9|n.1457C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000459917.1|processed_transcript|1/3|n.150C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000481612.1|processed_transcript|1/2|n.14C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MFSD2A|ENSG00000168389|transcript|ENST00000491515.5|processed_transcript|4/6|n.241C>T||||||;known_AA=C;known_CLIN_pathogenic;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,.,0.64293;dbNSFP_Ensembl_proteinid=ENSP00000391261,ENSP00000361898,ENSP00000361895;dbNSFP_Ensembl_transcriptid=ENST00000420632,ENST00000372811,ENST00000372809;dbNSFP_FATHMM_score=-1.34,-1.34,-1.34;dbNSFP_LRT_score=0;dbNSFP_M_CAP_score=0.197425;dbNSFP_MPC_score=.,.,1.27251;dbNSFP_MVP_score=0.584956,0.584956,0.584956;dbNSFP_MetaLR_score=0.6643;dbNSFP_MetaSVM_score=0.1899;dbNSFP_MutPred_score=0.533;dbNSFP_MutationAssessor_score=.,.,2.915;dbNSFP_MutationTaster_score=1,1,1;dbNSFP_PROVEAN_score=-4.29,-4.66,-4.66;dbNSFP_Polyphen2_HDIV_score=.,0.945,0.914;dbNSFP_Polyphen2_HVAR_score=.,0.44,0.49;dbNSFP_PrimateAI_score=0.685044;dbNSFP_REVEL_score=0.628;dbNSFP_SIFT4G_score=0.007,0.005,0.005;dbNSFP_SIFT_score=0.002,0.002,0.002;dbNSFP_Uniprot_acc=E7EPI8,Q8NA29-2,Q8NA29;dbNSFP_Uniprot_entry=E7EPI8_HUMAN,NLS1_HUMAN,NLS1_HUMAN;dbNSFP_VEST4_score=0.885,0.91,0.92 DP:AF:OBS:SB 40:0:24N+14N-1S-1V+:+ 1 47301556 rs863225464 C T . . SVLEN=.;PROB_PRESENT=0.0683946;PROB_ARTIFACT=18.9442;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=25.4165;ANN=T|splice_region_variant&intron_variant|LOW|STIL|ENSG00000123473|transcript|ENST00000371877.7|protein_coding|5/16|c.453+5G>A||||||,T|splice_region_variant&intron_variant|LOW|STIL|ENSG00000123473|transcript|ENST00000360380.7|protein_coding|6/17|c.453+5G>A||||||,T|splice_region_variant&intron_variant|LOW|STIL|ENSG00000123473|transcript|ENST00000396221.6|protein_coding|5/16|c.453+5G>A||||||,T|splice_region_variant&intron_variant|LOW|STIL|ENSG00000123473|transcript|ENST00000447475.6|protein_coding|6/17|c.453+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|STIL|ENSG00000123473|transcript|ENST00000433827.2|retained_intron|1/1|n.165+5G>A||||||,T|splice_region_variant&intron_variant|LOW|STIL|ENSG00000123473|transcript|ENST00000337817.9|protein_coding|6/18|c.453+5G>A||||||,T|downstream_gene_variant|MODIFIER|STIL|ENSG00000123473|transcript|ENST00000413565.1|protein_coding||c.*678G>A|||||678|WARNING_TRANSCRIPT_INCOMPLETE;known_AA=C;known_CLIN_likely_pathogenic;known_CLIN_pathogenic;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 28:0.0714286:18N+8N-1V-1V+:. 1 55039974 rs11591147 G T . . SVLEN=.;PROB_ABSENT=3151.2;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=1562.19;PROB_PRESENT=0;ANN=T|missense_variant|MODERATE|PCSK9|ENSG00000169174|transcript|ENST00000302118.5|protein_coding|1/12|c.137G>T|p.Arg46Leu|427/3637|137/2079|46/692||;known_AA=G;known_CLIN_association;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=32;known_MAF=0.00639;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.078337;dbNSFP_Ensembl_proteinid=ENSP00000303208;dbNSFP_Ensembl_transcriptid=ENST00000302118;dbNSFP_FATHMM_score=-0.47;dbNSFP_LRT_score=0.254722;dbNSFP_MPC_score=0.280662;dbNSFP_MetaLR_score=0.0855;dbNSFP_MetaSVM_score=-1.0348;dbNSFP_MutationAssessor_score=0.805;dbNSFP_MutationTaster_score=1,1;dbNSFP_PROVEAN_score=0.24;dbNSFP_Polyphen2_HDIV_score=0.001;dbNSFP_Polyphen2_HVAR_score=0.002;dbNSFP_PrimateAI_score=0.50445;dbNSFP_REVEL_score=0.028;dbNSFP_SIFT4G_score=0.484;dbNSFP_SIFT_score=0.359;dbNSFP_Uniprot_acc=Q8NBP7;dbNSFP_Uniprot_entry=PCSK9_HUMAN;dbNSFP_VEST4_score=0.099 DP:AF:OBS:SB 217:0.509908:55V-55N-54V+51N+2S-:. 1 97883329 rs1801265 A G . . SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=1176.85;PROB_ARTIFACT=421.587;PROB_PRESENT=0;ANN=G|missense_variant|MODERATE|DPYD|ENSG00000188641|transcript|ENST00000370192.7|protein_coding|2/23|c.85T>C|p.Cys29Arg|186/4412|85/3078|29/1025||,G|missense_variant|MODERATE|DPYD|ENSG00000188641|transcript|ENST00000306031.5|protein_coding|2/6|c.85T>C|p.Cys29Arg|212/1779|85/522|29/173||,G|non_coding_transcript_exon_variant|MODIFIER|DPYD|ENSG00000188641|transcript|ENST00000460019.1|processed_transcript|2/3|n.160T>C||||||;known_AA=G;known_CLIN_benign;known_CLIN_not_provided;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=1303;known_MAF=0.2602;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.058699,.;dbNSFP_Ensembl_proteinid=ENSP00000359211,ENSP00000307107;dbNSFP_Ensembl_transcriptid=ENST00000370192,ENST00000306031;dbNSFP_SIFT4G_score=0.427,0.432;dbNSFP_Uniprot_acc=Q12882,Q12882-2;dbNSFP_Uniprot_entry=DPYD_HUMAN,DPYD_HUMAN;dbNSFP_VEST4_score=0.085,0.179 DP:AF:OBS:SB 112:0.460714:33N-28V-27N+21V+3S+:. 1 100206504 rs12021720 T C . . SVLEN=.;PROB_ARTIFACT=1033.14;PROB_PRESENT=0;PROB_ABSENT=2081.21;PROB_FFPE_ARTIFACT=inf;ANN=C|missense_variant|MODERATE|DBT|ENSG00000137992|transcript|ENST00000370132.8|protein_coding|9/11|c.1150A>G|p.Ser384Gly|1164/10799|1150/1449|384/482||,C|downstream_gene_variant|MODIFIER|DBT|ENSG00000137992|transcript|ENST00000370131.3|protein_coding||c.*4597A>G|||||4039|;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=542;known_MAF=0.1082;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000359151;dbNSFP_Ensembl_transcriptid=ENST00000370132;dbNSFP_FATHMM_score=1.19;dbNSFP_LRT_score=1e-05;dbNSFP_MPC_score=0.290435;dbNSFP_MetaLR_score=0.0139;dbNSFP_MetaSVM_score=-1.0121;dbNSFP_MutationTaster_score=1;dbNSFP_PROVEAN_score=3.03;dbNSFP_PrimateAI_score=0.534096;dbNSFP_REVEL_score=0.117;dbNSFP_SIFT4G_score=1;dbNSFP_SIFT_score=1;dbNSFP_VEST4_score=0.042 DP:AF:OBS:SB 134:0.539403:38V+33N+33V-29N-1S+:. 1 145927447 rs139428292 C T . . SVLEN=.;PROB_ARTIFACT=536.507;PROB_FFPE_ARTIFACT=423.971;PROB_ABSENT=1460.93;PROB_PRESENT=0;ANN=T|5_prime_UTR_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000583313.6|protein_coding|1/6|c.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000369307.4|protein_coding|1/6|c.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000632555.1|protein_coding|1/7|c.-21G>A|||||21|,T|upstream_gene_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000634130.1|retained_intron||n.-706G>A|||||706|,T|upstream_gene_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000632040.1|nonsense_mediated_decay||c.-831G>A|||||829|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000633781.1|nonsense_mediated_decay||c.-831G>A|||||829|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000421764.1|antisense||n.-156C>T|||||156|,T|upstream_gene_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000448561.5|antisense||n.-35C>T|||||35|,T|downstream_gene_variant|MODIFIER|GNRHR2|ENSG00000211451|transcript|ENST00000312753.9|processed_transcript||n.*2133C>T|||||2133|,T|downstream_gene_variant|MODIFIER|GNRHR2|ENSG00000211451|transcript|ENST00000361928.2|processed_transcript||n.*2106C>T|||||2106|,T|downstream_gene_variant|MODIFIER|GNRHR2|ENSG00000211451|transcript|ENST00000581100.6|unitary_pseudogene||n.*2214C>T|||||2214|,T|intron_variant|MODIFIER|CH17-270A2.2|ENSG00000280778|transcript|ENST00000625258.1|protein_coding|1/3|c.-30+158C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_transcript_exon_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000498663.5|retained_intron|1/3|n.49G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000447686.2|antisense|2/2|n.557C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000412239.1|antisense|2/3|n.456C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000634161.1|retained_intron|2/3|n.116G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000437797.5|antisense|1/3|n.343C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000598354.5|antisense|1/3|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RBM8A|ENSG00000265241|transcript|ENST00000484825.1|retained_intron|1/3|n.49G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000596355.1|antisense|2/2|n.481C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000601726.3|antisense|1/3|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000599147.5|antisense|1/4|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000599626.5|antisense|1/3|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000595494.5|antisense|1/2|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000595518.5|antisense|1/4|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000597144.5|antisense|1/5|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000599469.5|antisense|1/5|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000598103.5|antisense|1/3|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000600340.5|antisense|1/4|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|RP11-315I20.1|ENSG00000234222|transcript|ENST00000630257.2|antisense|1/3|n.212C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|CH17-270A2.2|ENSG00000280778|transcript|ENST00000630636.1|processed_transcript|1/6|n.190C>T||||||;known_AA=C;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=48;known_MAF=0.009585;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 100:0.529412:33V-30N-20V+17N+1n-1n+:. 1 161629903 rs448740 T C . . 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SVLEN=.;PROB_ABSENT=6375.76;PROB_ARTIFACT=2896.62;PROB_FFPE_ARTIFACT=2684.4;PROB_PRESENT=0;ANN=T|missense_variant|MODERATE|CFH|ENSG00000000971|transcript|ENST00000367429.8|protein_coding|9/22|c.1204C>T|p.His402Tyr|1444/4127|1204/3696|402/1231||,T|missense_variant|MODERATE|CFH|ENSG00000000971|transcript|ENST00000630130.2|protein_coding|9/10|c.1204C>T|p.His402Tyr|1277/1658|1204/1350|402/449||,T|missense_variant|MODERATE|CFH|ENSG00000000971|transcript|ENST00000359637.2|protein_coding|8/9|c.1012C>T|p.His338Tyr|1074/1454|1012/1158|338/385||,T|non_coding_transcript_exon_variant|MODIFIER|CFH|ENSG00000000971|transcript|ENST00000466229.5|retained_intron|4/16|n.3220C>T||||||;known_AA=T;known_CLIN_benign;known_CLIN_pathogenic;known_CLIN_risk_factor;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=1335;known_MAF=0.2666;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,0.003274,.;dbNSFP_Ensembl_proteinid=ENSP00000356399,ENSP00000487250,ENSP00000352658;dbNSFP_Ensembl_transcriptid=ENST00000367429,ENST00000630130,ENST00000359637;dbNSFP_FATHMM_score=-0.03,.,-0.03;dbNSFP_MPC_score=0.162329,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-1.0069;dbNSFP_MutationTaster_score=1,1,1;dbNSFP_PROVEAN_score=0.01,.,0.91;dbNSFP_Polyphen2_HDIV_score=.,.,0;dbNSFP_Polyphen2_HVAR_score=.,.,0.001;dbNSFP_PrimateAI_score=0.253578;dbNSFP_REVEL_score=0.086;dbNSFP_SIFT4G_score=1,1,1;dbNSFP_SIFT_score=1,.,1;dbNSFP_Uniprot_acc=.,A0A0D9SG88,Q5TFM2;dbNSFP_Uniprot_entry=.,A0A0D9SG88_HUMAN,Q5TFM2_HUMAN;dbNSFP_VEST4_score=0.087,0.056,0.05 DP:AF:OBS:SB 200:1:115V+82V-3P-:. 1 198807802 rs9660525 C A . . SVLEN=.;PROB_ARTIFACT=31.985;PROB_FFPE_ARTIFACT=inf;PROB_PRESENT=0.0027517;PROB_ABSENT=65.7525;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MIR181A1HG|ENSG00000229989|transcript|ENST00000412162.1|lincRNA|2/2|n.633G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MIR181A1HG|ENSG00000229989|transcript|ENST00000432296.1|lincRNA|3/3|n.786G>T||||||;known_AA=A;known_CLIN_pathogenic;known_E_1000G;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=2390;known_MAF=0.4772;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 2:1:1V+1V-:. 1 201368212 rs200754249 G A . . SVLEN=.;PROB_ARTIFACT=448.706;PROB_ABSENT=942.474;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=262.068;ANN=A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000367322.5|protein_coding|5/15|c.83C>T|p.Ala28Val|155/1132|83/858|28/285||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000367320.6|protein_coding|6/15|c.113C>T|p.Ala38Val|166/1007|113/768|38/255||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000412633.2|protein_coding|5/9|c.83C>T|p.Ala28Val|139/349|83/293|28/96||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000236918.11|protein_coding|5/16|c.113C>T|p.Ala38Val|113/1098|113/897|38/298||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000367318.9|protein_coding|5/16|c.83C>T|p.Ala28Val|136/1122|83/867|28/288||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000360372.8|protein_coding|5/14|c.113C>T|p.Ala38Val|113/969|113/768|38/255||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000367317.8|protein_coding|3/14|c.68C>T|p.Ala23Val|68/1050|68/849|23/282||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000367315.6|protein_coding|4/14|c.89C>T|p.Ala30Val|101/1083|89/876|30/291||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000509001.5|protein_coding|5/16|c.83C>T|p.Ala28Val|370/1330|83/867|28/288||,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000438742.5|protein_coding|4/15|c.68C>T|p.Ala23Val|124/870|68/814|23/270||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000455702.5|protein_coding|6/12|c.113C>T|p.Ala38Val|138/565|113/540|38/179||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TNNT2|ENSG00000118194|transcript|ENST00000422165.5|protein_coding|5/9|c.98C>T|p.Ala33Val|142/386|98/342|33/113||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000421663.6|protein_coding|3/13|c.-95C>T|||||1349|,A|5_prime_UTR_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000458432.6|protein_coding|5/15|c.-95C>T|||||1349|,A|upstream_gene_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000476888.5|processed_transcript||n.-4862C>T|||||4862|,A|upstream_gene_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000460780.5|processed_transcript||n.-4024C>T|||||4024|,A|upstream_gene_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000515042.5|retained_intron||n.-1246C>T|||||1246|,A|upstream_gene_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000503459.1|retained_intron||n.-404C>T|||||404|,A|non_coding_transcript_exon_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000466570.5|processed_transcript|3/9|n.342C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000445079.2|retained_intron|1/3|n.103C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000472177.2|retained_intron|5/6|n.155C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000491504.5|retained_intron|5/15|n.155C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000475686.5|processed_transcript|4/6|n.189C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TNNT2|ENSG00000118194|transcript|ENST00000494095.5|retained_intron|3/4|n.2300C>T||||||;known_AA=G;known_CLIN_likely_benign;known_CLIN_pathogenic;known_CLIN_uncertain_significance;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=1;known_MAF=0.0002;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,.,.,.,0.395436,.,.,.,0.265732,.,.,0.240451;dbNSFP_Ensembl_proteinid=ENSP00000356287,ENSP00000356291,ENSP00000356286,ENSP00000353535,ENSP00000236918,ENSP00000356284,ENSP00000356289,ENSP00000422031,ENSP00000414036,ENSP00000402238,ENSP00000395163,ENSP00000408731;dbNSFP_Ensembl_transcriptid=ENST00000367318,ENST00000367322,ENST00000367317,ENST00000360372,ENST00000236918,ENST00000367315,ENST00000367320,ENST00000509001,ENST00000438742,ENST00000455702,ENST00000422165,ENST00000412633;dbNSFP_FATHMM_score=-6.32,-6.32,.,-6.32,.,.,-6.32,-6.32,-6.32,-6.32,-6.32,-6.32;dbNSFP_LRT_score=0.762975;dbNSFP_M_CAP_score=0.363203;dbNSFP_MPC_score=.,.,.,.,.,.,.,0.505238,.,.,.,.;dbNSFP_MVP_score=0.605799,0.605799,0.605799,0.605799,0.605799,0.605799,0.605799,0.605799,0.605799,0.605799,0.605799,0.605799;dbNSFP_MetaLR_score=0.8905;dbNSFP_MetaSVM_score=0.8991;dbNSFP_MutationAssessor_score=.,.,.,-0.07,-0.07,.,-0.07,.,.,.,.,.;dbNSFP_MutationTaster_score=0.999991,0.999991,0.999984,0.999991,0.999992,0.999992,0.999855,0.999991,0.999991,1;dbNSFP_PROVEAN_score=-0.23,-0.23,.,-0.23,.,.,-0.25,-0.23,-0.39,-0.42,0.06,-0.1;dbNSFP_Polyphen2_HDIV_score=.,.,.,.,0,.,.,.,.,.,.,.;dbNSFP_Polyphen2_HVAR_score=.,.,.,.,0,.,.,.,.,.,.,.;dbNSFP_PrimateAI_score=0.429249;dbNSFP_REVEL_score=0.61;dbNSFP_SIFT4G_score=0.287,0.286,0.301,0.274,0.285,0.294,0.274,0.287,.,0.239,0.121,.;dbNSFP_SIFT_score=0.105,0.119,.,0.486,.,.,0.583,0.105,0.053,0.246,0.131,0.128;dbNSFP_Uniprot_acc=P45379-6,P45379-11,A0A0A0MRJ5,P45379-12,P45379,A0A0A0MRJ4,P45379-12,P45379-6,E7EPW4,E7EPN8,C9JDF8,C9JM61;dbNSFP_Uniprot_entry=TNNT2_HUMAN,TNNT2_HUMAN,A0A0A0MRJ5_HUMAN,TNNT2_HUMAN,TNNT2_HUMAN,A0A0A0MRJ4_HUMAN,TNNT2_HUMAN,TNNT2_HUMAN,E7EPW4_HUMAN,E7EPN8_HUMAN,C9JDF8_HUMAN,C9JM61_HUMAN;dbNSFP_VEST4_score=0.126,0.153,0.156,0.126,0.123,0.123,0.126,0.126,.,.,.,. DP:AF:OBS:SB 91:0.404204:28N-26N+19V+16V-2S-:. 10 6485181 rs2236379 G A . . SVLEN=.;PROB_ARTIFACT=898.35;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=593.642;PROB_ABSENT=1905.09;ANN=A|missense_variant|MODERATE|PRKCQ|ENSG00000065675|transcript|ENST00000263125.9|protein_coding|10/18|c.989C>T|p.Pro330Leu|1089/3285|989/2121|330/706||,A|missense_variant|MODERATE|PRKCQ|ENSG00000065675|transcript|ENST00000539722.5|protein_coding|9/17|c.614C>T|p.Pro205Leu|1028/3224|614/1746|205/581||,A|missense_variant|MODERATE|PRKCQ|ENSG00000065675|transcript|ENST00000610727.1|protein_coding|9/17|c.881C>T|p.Pro294Leu|881/3077|881/2013|294/670||,A|missense_variant|MODERATE|PRKCQ|ENSG00000065675|transcript|ENST00000397176.6|protein_coding|10/17|c.989C>T|p.Pro330Leu|1089/3096|989/1932|330/643||;known_AA=G;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=1830;known_MAF=0.3654;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.01294,0.218332,.,.;dbNSFP_Ensembl_proteinid=ENSP00000483428,ENSP00000263125,ENSP00000380361,ENSP00000441752;dbNSFP_Ensembl_transcriptid=ENST00000610727,ENST00000263125,ENST00000397176,ENST00000539722;dbNSFP_FATHMM_score=.,-0.3,-0.25,-0.28;dbNSFP_LRT_score=0.100581;dbNSFP_MPC_score=.,0.466138,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9181;dbNSFP_MutationAssessor_score=.,0.35,0.35,.;dbNSFP_MutationTaster_score=0.999877,0.999877,0.999933;dbNSFP_PROVEAN_score=.,-1.03,-1.03,-0.95;dbNSFP_Polyphen2_HDIV_score=.,0,0,.;dbNSFP_Polyphen2_HVAR_score=.,0,0,.;dbNSFP_PrimateAI_score=0.25596;dbNSFP_REVEL_score=0.107;dbNSFP_SIFT4G_score=0.443,0.448,0.275,0.412;dbNSFP_SIFT_score=.,0.349,0.552,0.234;dbNSFP_Uniprot_acc=A0A087X0I9,Q04759,Q04759-2,Q04759-3;dbNSFP_Uniprot_entry=A0A087X0I9_HUMAN,KPCT_HUMAN,KPCT_HUMAN,KPCT_HUMAN;dbNSFP_VEST4_score=0.034,0.058,0.055,0.053 DP:AF:OBS:SB 110:0.602909:36V+30V-22N-22N+:. 10 31521854 rs118020901 A C . . SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=861.867;PROB_ABSENT=1818.35;PROB_PRESENT=0;ANN=C|missense_variant|MODERATE|ZEB1|ENSG00000148516|transcript|ENST00000361642.9|protein_coding|7/9|c.2522A>C|p.Gln841Pro|2585/5990|2522/3378|841/1125||,C|missense_variant|MODERATE|ZEB1|ENSG00000148516|transcript|ENST00000320985.14|protein_coding|7/9|c.2519A>C|p.Gln840Pro|2629/5423|2519/3375|840/1124||,C|missense_variant|MODERATE|ZEB1|ENSG00000148516|transcript|ENST00000560721.6|protein_coding|6/8|c.2459A>C|p.Gln820Pro|2482/3368|2459/3315|820/1104||,C|missense_variant|MODERATE|ZEB1|ENSG00000148516|transcript|ENST00000542815.7|protein_coding|6/8|c.2318A>C|p.Gln773Pro|2331/3217|2318/3174|773/1057||,C|missense_variant|MODERATE|ZEB1|ENSG00000148516|transcript|ENST00000446923.6|protein_coding|7/9|c.2471A>C|p.Gln824Pro|2862/6267|2471/3327|824/1108||,C|3_prime_UTR_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000437844.6|nonsense_mediated_decay|9/11|c.*2659A>C|||||148733|,C|downstream_gene_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000558440.5|protein_coding||c.*1433A>C|||||1433|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000559476.2|protein_coding||c.*1640A>C|||||1640|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000424869.5|protein_coding||c.*1654A>C|||||1654|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000558863.5|retained_intron||n.*1043A>C|||||1043|,C|downstream_gene_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000561212.5|protein_coding||c.*1043A>C|||||1043|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_transcript_exon_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000488625.6|retained_intron|11/13|n.3232A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000559858.5|processed_transcript|8/9|n.2588A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000542879.5|retained_intron|7/9|n.2777A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZEB1|ENSG00000148516|transcript|ENST00000558655.5|retained_intron|7/8|n.2616A>C||||||;known_AA=A;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=15;known_MAF=0.002995;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.219356,.,.,.,.;dbNSFP_Ensembl_proteinid=ENSP00000319248,ENSP00000354487,ENSP00000452787,ENSP00000444891,ENSP00000391612;dbNSFP_Ensembl_transcriptid=ENST00000320985,ENST00000361642,ENST00000560721,ENST00000542815,ENST00000446923;dbNSFP_FATHMM_score=2.55,2.56,2.54,2.62,2.62;dbNSFP_LRT_score=5.1e-05;dbNSFP_MPC_score=.,0.49239,.,.,.;dbNSFP_MVP_score=0.585157,0.585157,0.585157,0.585157,0.585157;dbNSFP_MetaLR_score=0.0452;dbNSFP_MetaSVM_score=-1.1381;dbNSFP_MutationAssessor_score=1.4,.,.,.,.;dbNSFP_MutationTaster_score=1,1,1,1,1,1,1,1;dbNSFP_PROVEAN_score=-1.35,-1.35,-1.35,-1.25,-1.35;dbNSFP_Polyphen2_HDIV_score=0.996,.,.,.,.;dbNSFP_Polyphen2_HVAR_score=0.979,.,.,.,.;dbNSFP_PrimateAI_score=0.628943;dbNSFP_REVEL_score=0.326;dbNSFP_SIFT4G_score=0.149,0.148,0.15,0.143,0.146;dbNSFP_SIFT_score=0.037,0.038,0.038,0.036,0.037;dbNSFP_Uniprot_acc=P37275,P37275-2,P37275-4,P37275-3,P37275-5;dbNSFP_Uniprot_entry=ZEB1_HUMAN,ZEB1_HUMAN,ZEB1_HUMAN,ZEB1_HUMAN,ZEB1_HUMAN;dbNSFP_VEST4_score=0.87,0.872,0.867,0.873,0.883 DP:AF:OBS:SB 179:0.470335:52N-43N+39V-37V+8S-:. 10 71803076 rs1057520662 G T . . SVLEN=.;PROB_PRESENT=10.5437;PROB_ABSENT=23.1176;PROB_ARTIFACT=0.424452;PROB_FFPE_ARTIFACT=inf;ANN=T|splice_donor_variant&intron_variant|HIGH|CDH23|ENSG00000107736|transcript|ENST00000398788.4|protein_coding|7/22|c.940+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|CDH23|ENSG00000107736|transcript|ENST00000619887.4|protein_coding|7/21|c.940+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|CDH23|ENSG00000107736|transcript|ENST00000475158.1|retained_intron|6/20|n.1196+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|CDH23|ENSG00000107736|transcript|ENST00000224721.10|protein_coding|54/69|c.7675+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|CDH23|ENSG00000107736|transcript|ENST00000622827.4|protein_coding|52/67|c.7660+1G>T||||||;LOF=(CDH23|ENSG00000107736|14|0.29);known_AA=G;known_CLIN_pathogenic;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000483211,ENSP00000224721,ENSP00000478374,ENSP00000381768;dbNSFP_Ensembl_transcriptid=ENST00000622827,ENST00000224721,ENST00000619887,ENST00000398788;dbNSFP_MutationTaster_score=1,1;dbNSFP_Uniprot_acc=A0A087X097,Q9H251,Q9H251-9,Q9H251-7;dbNSFP_Uniprot_entry=A0A087X097_HUMAN,CAD23_HUMAN,CAD23_HUMAN,CAD23_HUMAN DP:AF:OBS:SB 76:0:45N+27N-3S-1V-:- 10 100069757 rs61751507 C T . . SVLEN=.;PROB_ARTIFACT=536.939;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=336.881;PROB_ABSENT=1077.55;ANN=T|missense_variant|MODERATE|CPN1|ENSG00000120054|transcript|ENST00000370418.7|protein_coding|3/9|c.533G>A|p.Gly178Asp|785/1863|533/1377|178/458||,T|upstream_gene_variant|MODIFIER|CPN1|ENSG00000120054|transcript|ENST00000441382.1|protein_coding||c.-4420G>A|||||4363|WARNING_TRANSCRIPT_NO_STOP_CODON;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=133;known_MAF=0.02656;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.394081;dbNSFP_Ensembl_proteinid=ENSP00000359446;dbNSFP_Ensembl_transcriptid=ENST00000370418;dbNSFP_FATHMM_score=2.58;dbNSFP_LRT_score=0;dbNSFP_MPC_score=1.32136;dbNSFP_MetaLR_score=0.0102;dbNSFP_MetaSVM_score=-1.19;dbNSFP_MutationAssessor_score=2.275;dbNSFP_MutationTaster_score=1;dbNSFP_PROVEAN_score=-4.19;dbNSFP_Polyphen2_HDIV_score=0.863;dbNSFP_Polyphen2_HVAR_score=0.764;dbNSFP_PrimateAI_score=0.608256;dbNSFP_REVEL_score=0.323;dbNSFP_SIFT4G_score=0.33;dbNSFP_SIFT_score=0.171;dbNSFP_Uniprot_acc=P15169;dbNSFP_Uniprot_entry=CBPN_HUMAN;dbNSFP_VEST4_score=0.288 DP:AF:OBS:SB 69:0.555901:19V-19V+16N+15N-:. 11 13492506 rs6256 G T . . SVLEN=.;PROB_ABSENT=1608.77;PROB_ARTIFACT=802.952;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=inf;ANN=T|synonymous_variant|LOW|PTH|ENSG00000152266|transcript|ENST00000282091.5|protein_coding|3/3|c.247C>A|p.Arg83Arg|362/813|247/348|83/115||,T|synonymous_variant|LOW|PTH|ENSG00000152266|transcript|ENST00000529816.1|protein_coding|3/3|c.247C>A|p.Arg83Arg|392/799|247/348|83/115||,T|downstream_gene_variant|MODIFIER|RP11-15D14.2|ENSG00000255401|transcript|ENST00000532318.1|unprocessed_pseudogene||n.*3116G>T|||||3116|;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=758;known_MAF=0.1514;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 112:0.519643:30V-29N+28V+25N-:. 11 18269312 rs1136743 C T . . SVLEN=.;PROB_ABSENT=725.706;PROB_ARTIFACT=97.6908;PROB_FFPE_ARTIFACT=291.575;PROB_PRESENT=7.39122e-10;ANN=T|missense_variant|MODERATE|SAA1|ENSG00000173432|transcript|ENST00000356524.8|protein_coding|3/4|c.209C>T|p.Ala70Val|336/615|209/369|70/122||,T|missense_variant|MODERATE|SAA1|ENSG00000173432|transcript|ENST00000532858.5|protein_coding|4/5|c.209C>T|p.Ala70Val|311/583|209/369|70/122||,T|missense_variant|MODERATE|SAA1|ENSG00000173432|transcript|ENST00000405158.2|protein_coding|3/4|c.209C>T|p.Ala70Val|393/675|209/369|70/122||,T|downstream_gene_variant|MODIFIER|RNA5SP334|ENSG00000201695|transcript|ENST00000364825.1|rRNA||n.*2802C>T|||||2802|;known_AA=C;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.010711,0.010711,.,0.010711;dbNSFP_Ensembl_proteinid=ENSP00000348918,ENSP00000436866,ENSP00000497498,ENSP00000384906;dbNSFP_Ensembl_transcriptid=ENST00000356524,ENST00000532858,ENST00000649195,ENST00000405158;dbNSFP_FATHMM_score=3.02,3.02,.,3.02;dbNSFP_LRT_score=0.08545;dbNSFP_MPC_score=.,.,.,1.67124;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-1.009;dbNSFP_MutationTaster_score=1,1,1;dbNSFP_PROVEAN_score=-1.15,-1.15,.,-1.15;dbNSFP_PrimateAI_score=0.313907;dbNSFP_REVEL_score=0.011;dbNSFP_SIFT4G_score=1,1,.,1;dbNSFP_SIFT_score=0.741,0.741,.,0.741;dbNSFP_Uniprot_acc=E9PQD6,E9PQD6,A0A3B3ISW8,E9PQD6;dbNSFP_Uniprot_entry=E9PQD6_HUMAN,E9PQD6_HUMAN,A0A3B3ISW8_HUMAN,E9PQD6_HUMAN;dbNSFP_VEST4_score=0.013,0.013,.,0.013 DP:AF:OBS:SB 38:0.737024:20V-11v-9N-9n-6v+6n+5V+2N+:. 11 18281986 rs61884288 G A . . SVLEN=.;PROB_PRESENT=0;PROB_ABSENT=1968.99;PROB_ARTIFACT=936.642;PROB_FFPE_ARTIFACT=573.194;ANN=A|missense_variant|MODERATE|HPS5|ENSG00000110756|transcript|ENST00000349215.7|protein_coding|22/23|c.3293C>T|p.Thr1098Ile|3571/4491|3293/3390|1098/1129||,A|missense_variant|MODERATE|HPS5|ENSG00000110756|transcript|ENST00000396253.7|protein_coding|21/22|c.2951C>T|p.Thr984Ile|3414/4725|2951/3048|984/1015||,A|missense_variant|MODERATE|HPS5|ENSG00000110756|transcript|ENST00000438420.6|protein_coding|21/22|c.2951C>T|p.Thr984Ile|3227/4147|2951/3048|984/1015||,A|missense_variant|MODERATE|HPS5|ENSG00000110756|transcript|ENST00000537258.1|protein_coding|4/6|c.614C>T|p.Thr205Ile|780/1275|614/792|205/263||,A|downstream_gene_variant|MODIFIER|HPS5|ENSG00000110756|transcript|ENST00000545561.1|retained_intron||n.*1807C>T|||||1807|,A|downstream_gene_variant|MODIFIER|HPS5|ENSG00000110756|transcript|ENST00000544218.5|protein_coding||c.*3387C>T|||||3387|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_transcript_exon_variant|MODIFIER|HPS5|ENSG00000110756|transcript|ENST00000352460.7|processed_transcript|8/8|n.1570C>T||||||;known_AA=G;known_CLIN_benign;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=52;known_MAF=0.01038;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,0.105415,.,.;dbNSFP_Ensembl_proteinid=ENSP00000379552,ENSP00000265967,ENSP00000399590,ENSP00000437437;dbNSFP_Ensembl_transcriptid=ENST00000396253,ENST00000349215,ENST00000438420,ENST00000537258;dbNSFP_FATHMM_score=0.49,0.53,0.49,.;dbNSFP_LRT_score=0.000363;dbNSFP_MPC_score=.,0.0566862,.,.;dbNSFP_MetaLR_score=0.0216;dbNSFP_MetaSVM_score=-1.1072;dbNSFP_MutationAssessor_score=.,1.59,.,.;dbNSFP_MutationTaster_score=0.0209535,0.0209535,0.0209535,0.0209535;dbNSFP_PROVEAN_score=-0.19,-0.26,-0.19,-0.95;dbNSFP_Polyphen2_HDIV_score=.,0.459,.,.;dbNSFP_Polyphen2_HVAR_score=.,0.11,.,.;dbNSFP_PrimateAI_score=0.483332;dbNSFP_REVEL_score=0.045;dbNSFP_SIFT4G_score=0.143,0.137,0.143,0.031;dbNSFP_SIFT_score=0.293,0.303,0.293,0.068;dbNSFP_Uniprot_acc=Q9UPZ3-2,Q9UPZ3,Q9UPZ3-2,F5H6Q8;dbNSFP_Uniprot_entry=HPS5_HUMAN,HPS5_HUMAN,HPS5_HUMAN,F5H6Q8_HUMAN;dbNSFP_VEST4_score=0.491,0.496,0.504,0.12 DP:AF:OBS:SB 135:0.516444:37V+36N+33V-29N-:. 11 32396401 rs1423753702 G A . . SVLEN=.;PROB_FFPE_ARTIFACT=8.07793;PROB_ABSENT=106.039;PROB_PRESENT=0.734927;PROB_ARTIFACT=50.5534;ANN=A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000332351.7|protein_coding|7/10|c.1105C>T|p.Arg369*|1390/3122|1105/1554|369/517||,A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000379079.6|protein_coding|7/10|c.469C>T|p.Arg157*|743/2466|469/909|157/302||,A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000452863.7|protein_coding|6/9|c.1054C>T|p.Arg352*|1054/2768|1054/1494|352/497||,A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000530998.5|protein_coding|6/9|c.418C>T|p.Arg140*|692/2421|418/867|140/288||,A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000448076.7|protein_coding|7/10|c.1105C>T|p.Arg369*|1295/2114|1105/1545|369/514||,A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000527882.5|protein_coding|4/6|c.175C>T|p.Arg59*|176/551|175/534|59/177||WARNING_TRANSCRIPT_NO_START_CODON,A|stop_gained|HIGH|WT1|ENSG00000184937|transcript|ENST00000527775.1|protein_coding|7/7|c.358C>T|p.Arg120*|543/578|358/393|120/130||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|WT1|ENSG00000184937|transcript|ENST00000526685.1|protein_coding|3/3|c.-69C>T|||||69|WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|WT1|ENSG00000184937|transcript|ENST00000379077.7|nonsense_mediated_decay|7/10|c.*304C>T|||||21172|;LOF=(WT1|ENSG00000184937|9|0.67);NMD=(WT1|ENSG00000184937|9|0.67);known_AA=G;known_CLIN_pathogenic;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000368370,ENSP00000331327,ENSP00000435307,ENSP00000415516,ENSP00000413452,ENSP00000492269,ENSP00000491511,ENSP00000491984,ENSP00000435351;dbNSFP_Ensembl_transcriptid=ENST00000379079,ENST00000332351,ENST00000530998,ENST00000452863,ENST00000448076,ENST00000639563,ENST00000639907,ENST00000640146,ENST00000527775;dbNSFP_LRT_score=1.3e-05;dbNSFP_MutationTaster_score=1,1;dbNSFP_Uniprot_acc=P19544-6,J3KNN9,P19544-9,A0A0A0MT54,H0Y7K5,A0A1W2PQQ0,A0A1W2PPP2,A0A1W2PR07,E9PKS2;dbNSFP_Uniprot_entry=WT1_HUMAN,J3KNN9_HUMAN,WT1_HUMAN,A0A0A0MT54_HUMAN,H0Y7K5_HUMAN,A0A1W2PQQ0_HUMAN,A0A1W2PPP2_HUMAN,A0A1W2PR07_HUMAN,E9PKS2_HUMAN;dbNSFP_VEST4_score=0.964,0.968,0.974,0.968,0.968,.,.,.,. DP:AF:OBS:SB 106:0.0660377:56N-43N+4V+3V-:. 11 47332975 rs869025469 T G . . SVLEN=.;PROB_ARTIFACT=0.137838;PROB_PRESENT=15.1767;PROB_ABSENT=30.5653;PROB_FFPE_ARTIFACT=inf;ANN=G|splice_acceptor_variant&intron_variant|HIGH|MYBPC3|ENSG00000134571|transcript|ENST00000256993.8|protein_coding|28/32|c.3331-2A>C||||||,G|splice_acceptor_variant&intron_variant|HIGH|MYBPC3|ENSG00000134571|transcript|ENST00000545968.5|protein_coding|30/34|c.3331-2A>C||||||,G|splice_acceptor_variant&intron_variant|HIGH|MYBPC3|ENSG00000134571|transcript|ENST00000399249.6|protein_coding|29/33|c.3331-2A>C||||||,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000311027.9|protein_coding||c.*3825T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000342922.8|protein_coding||c.*3825T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000349238.7|protein_coding||c.*3825T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000402799.5|protein_coding||c.*3825T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000406482.5|protein_coding||c.*4294T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000407859.7|protein_coding||c.*3825T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000395336.7|protein_coding||c.*4294T>G|||||2944|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000402192.6|protein_coding||c.*3825T>G|||||2945|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000469699.1|retained_intron||n.*3569T>G|||||3569|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000395344.7|protein_coding||c.*3825T>G|||||3618|,G|downstream_gene_variant|MODIFIER|MADD|ENSG00000110514|transcript|ENST00000634938.1|protein_coding||c.*3825T>G|||||3765|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MYBPC3|ENSG00000134571|transcript|ENST00000544791.1|nonsense_mediated_decay||c.*4523A>C|||||2603|;LOF=(MYBPC3|ENSG00000134571|4|0.75);known_CLIN_likely_pathogenic;known_CLIN_pathogenic;known_E_Freq;known_E_Phenotype_or_Disease;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000442795,ENSP00000256993,ENSP00000382193;dbNSFP_Ensembl_transcriptid=ENST00000545968,ENST00000256993,ENST00000399249;dbNSFP_MutationTaster_score=1,1,1;dbNSFP_Uniprot_acc=Q14896,A0A0A0MQU5,A8MXZ9;dbNSFP_Uniprot_entry=MYPC3_HUMAN,A0A0A0MQU5_HUMAN,A8MXZ9_HUMAN DP:AF:OBS:SB 76:0:36N-34N+5S-1V-:- 11 64809840 rs1114167527 A T . . SVLEN=.;PROB_PRESENT=14.7099;PROB_ABSENT=22.2071;PROB_ARTIFACT=0.176486;PROB_FFPE_ARTIFACT=inf;ANN=T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000377321.5|protein_coding|2/10|c.270T>A|p.Tyr90*|338/2614|270/1728|90/575||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000312049.10|protein_coding|2/10|c.270T>A|p.Tyr90*|380/2761|270/1833|90/610||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000424912.1|protein_coding|3/3|c.270T>A|p.Tyr90*|646/816|270/440|90/145||WARNING_TRANSCRIPT_INCOMPLETE,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000429702.5|protein_coding|2/2|c.270T>A|p.Tyr90*|774/944|270/440|90/145||WARNING_TRANSCRIPT_INCOMPLETE,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000377313.5|protein_coding|1/9|c.270T>A|p.Tyr90*|293/1871|270/1848|90/615||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000413626.1|protein_coding|2/4|c.270T>A|p.Tyr90*|357/870|270/783|90/260||WARNING_TRANSCRIPT_NO_STOP_CODON,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000337652.5|protein_coding|2/10|c.270T>A|p.Tyr90*|774/3162|270/1848|90/615||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000377316.6|protein_coding|1/8|c.270T>A|p.Tyr90*|646/2868|270/1668|90/555||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000377326.7|protein_coding|1/9|c.270T>A|p.Tyr90*|769/3150|270/1833|90/610||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000315422.8|protein_coding|2/10|c.270T>A|p.Tyr90*|767/3148|270/1833|90/610||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000394374.6|protein_coding|2/10|c.270T>A|p.Tyr90*|767/3155|270/1848|90/615||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000394376.5|protein_coding|3/11|c.270T>A|p.Tyr90*|646/3034|270/1848|90/615||,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000440873.5|protein_coding|2/7|c.270T>A|p.Tyr90*|338/1107|270/1039|90/345||WARNING_TRANSCRIPT_INCOMPLETE,T|stop_gained|HIGH|MEN1|ENSG00000133895|transcript|ENST00000450708.5|protein_coding|2/6|c.270T>A|p.Tyr90*|349/922|270/843|90/280||WARNING_TRANSCRIPT_NO_STOP_CODON,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U84:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U84:B_33-B_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U85:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U86:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U88:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U88:B_33-B_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GPQ:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ3:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ4:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ6:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG3:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG4:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG5:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG6:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG7:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG8:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4X5Y:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4X5Z:A_33-A_90:ENST00000312049|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U84:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U84:B_33-B_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U85:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U86:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U88:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U88:B_33-B_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GPQ:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ3:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ4:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ6:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG3:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG4:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG5:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG6:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG7:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG8:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4X5Y:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4X5Z:A_33-A_90:ENST00000377326|protein_coding|1/9|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U84:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U84:B_33-B_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U85:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U86:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U88:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|3U88:B_33-B_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GPQ:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ3:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ4:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4GQ6:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG3:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG4:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG5:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG6:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG7:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4OG8:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4X5Y:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|structural_interaction_variant|HIGH|MEN1|ENSG00000133895|interaction|4X5Z:A_33-A_90:ENST00000315422|protein_coding|2/10|c.270T>A||||||,T|upstream_gene_variant|MODIFIER|MEN1|ENSG00000133895|transcript|ENST00000478548.1|retained_intron||n.-3472T>A|||||3472|,T|upstream_gene_variant|MODIFIER|MEN1|ENSG00000133895|transcript|ENST00000487019.1|processed_transcript||n.-3848T>A|||||3848|;LOF=(MEN1|ENSG00000133895|16|0.75);NMD=(MEN1|ENSG00000133895|16|0.75);known_AA=A;known_CLIN_pathogenic;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000366533,ENSP00000366538,ENSP00000366543,ENSP00000308975,ENSP00000323747,ENSP00000377899,ENSP00000377901,ENSP00000337088,ENSP00000366530,ENSP00000413944,ENSP00000394933,ENSP00000411218,ENSP00000402752,ENSP00000388016;dbNSFP_Ensembl_transcriptid=ENST00000377316,ENST00000377321,ENST00000377326,ENST00000312049,ENST00000315422,ENST00000394374,ENST00000394376,ENST00000337652,ENST00000377313,ENST00000440873,ENST00000450708,ENST00000413626,ENST00000429702,ENST00000424912;dbNSFP_LRT_score=5e-06;dbNSFP_MutationTaster_score=1,1,1,1,1,1,1,1,1,1;dbNSFP_Uniprot_acc=E7EN32,O00255-3,O00255-2,O00255-2,O00255-2,O00255,O00255,O00255,O00255,E7ET29,E7EPR4,E7ENS2,Q9GZQ5,Q9GZQ5;dbNSFP_Uniprot_entry=E7EN32_HUMAN,MEN1_HUMAN,MEN1_HUMAN,MEN1_HUMAN,MEN1_HUMAN,MEN1_HUMAN,MEN1_HUMAN,MEN1_HUMAN,MEN1_HUMAN,E7ET29_HUMAN,E7EPR4_HUMAN,E7ENS2_HUMAN,Q9GZQ5_HUMAN,Q9GZQ5_HUMAN;dbNSFP_VEST4_score=0.857,0.853,0.89,0.848,0.848,0.869,0.869,0.869,0.869,.,.,.,.,. DP:AF:OBS:SB 113:0:57N+50N-5S-1V-:- 11 72329751 rs1466435969 G A . . SVLEN=.;PROB_PRESENT=0.257768;PROB_ABSENT=65.0424;PROB_FFPE_ARTIFACT=12.4067;PROB_ARTIFACT=37.6669;ANN=A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000294053.7|protein_coding|7/17|c.919C>T|p.Arg307*|1093/3240|919/2124|307/707||,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000535990.5|protein_coding|8/18|c.934C>T|p.Arg312*|934/2203|934/2139|312/712||WARNING_TRANSCRIPT_NO_START_CODON,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000437826.6|protein_coding|8/18|c.784C>T|p.Arg262*|1232/3379|784/1989|262/662||,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000538039.5|protein_coding|6/16|c.829C>T|p.Arg277*|952/3078|829/2034|277/677||,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000340729.9|protein_coding|5/15|c.742C>T|p.Arg248*|802/2071|742/1947|248/648||,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000543042.5|protein_coding|5/15|c.316C>T|p.Arg106*|870/2133|316/1521|106/506||,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000535477.5|nonsense_mediated_decay|6/15|c.829C>T|p.Arg277*|865/2047|829/1506|277/501||,A|stop_gained|HIGH|CLPB|ENSG00000162129|transcript|ENST00000544683.5|protein_coding|5/6|c.391C>T|p.Arg131*|557/624|391/458|131/151||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CLPB|ENSG00000162129|transcript|ENST00000539148.3|protein_coding||c.*34C>T|||||34|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_transcript_exon_variant|MODIFIER|CLPB|ENSG00000162129|transcript|ENST00000544382.5|processed_transcript|3/10|n.252C>T||||||;LOF=(CLPB|ENSG00000162129|14|0.50);NMD=(CLPB|ENSG00000162129|14|0.50);known_AA=G;known_CLIN_pathogenic;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000294053,ENSP00000407296,ENSP00000441518,ENSP00000443822,ENSP00000340385,ENSP00000439746,ENSP00000495167,ENSP00000442651;dbNSFP_Ensembl_transcriptid=ENST00000294053,ENST00000437826,ENST00000538039,ENST00000535990,ENST00000340729,ENST00000543042,ENST00000642288,ENST00000544683;dbNSFP_LRT_score=8.9e-05;dbNSFP_MutationTaster_score=1,1,1,1,1;dbNSFP_Uniprot_acc=Q9H078,Q9H078-4,Q9H078-2,H0YGM0,Q9H078-3,A0A2U3TZY2,A0A2R8Y602,F5H7A5;dbNSFP_Uniprot_entry=CLPB_HUMAN,CLPB_HUMAN,CLPB_HUMAN,H0YGM0_HUMAN,CLPB_HUMAN,A0A2U3TZY2_HUMAN,A0A2R8Y602_HUMAN,F5H7A5_HUMAN;dbNSFP_VEST4_score=0.918,0.967,0.952,.,0.935,.,.,. DP:AF:OBS:SB 52:0.0758136:26N-22N+2V-2V+:. 12 120999579 rs1169305 A G . . 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SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=3151.91;PROB_PRESENT=0;PROB_ARTIFACT=1571.21;ANN=C|missense_variant|MODERATE|HPD|ENSG00000158104|transcript|ENST00000289004.8|protein_coding|4/14|c.97A>G|p.Thr33Ala|133/1419|97/1182|33/393||,C|5_prime_UTR_variant|MODIFIER|HPD|ENSG00000158104|transcript|ENST00000543163.5|protein_coding|5/15|c.-21A>G|||||21|,C|downstream_gene_variant|MODIFIER|RP11-7M8.2|ENSG00000256811|transcript|ENST00000543848.1|antisense||n.*370T>C|||||370|,C|non_coding_transcript_exon_variant|MODIFIER|HPD|ENSG00000158104|transcript|ENST00000535114.1|retained_intron|3/4|n.453A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|HPD|ENSG00000158104|transcript|ENST00000542159.2|retained_intron|1/6|n.155A>G||||||;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=619;known_MAF=0.1236;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.003316;dbNSFP_Ensembl_proteinid=ENSP00000289004;dbNSFP_Ensembl_transcriptid=ENST00000289004;dbNSFP_FATHMM_score=-0.38;dbNSFP_LRT_score=0;dbNSFP_MPC_score=0.363773;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9451;dbNSFP_MutationTaster_score=0.997401,1e-37;dbNSFP_PROVEAN_score=3.78;dbNSFP_PrimateAI_score=0.667866;dbNSFP_REVEL_score=0.192;dbNSFP_SIFT4G_score=1;dbNSFP_SIFT_score=1;dbNSFP_Uniprot_acc=A0A0B4J1R4;dbNSFP_Uniprot_entry=A0A0B4J1R4_HUMAN;dbNSFP_VEST4_score=0.037 DP:AF:OBS:SB 111:0.990991:52V-52V+7S-:. 13 101191948 rs786203988 T G . . SVLEN=.;PROB_PRESENT=12.7184;PROB_ABSENT=20.556;PROB_ARTIFACT=0.279241;PROB_FFPE_ARTIFACT=inf;ANN=G|missense_variant|MODERATE|NALCN|ENSG00000102452|transcript|ENST00000251127.10|protein_coding|14/44|c.1733A>C|p.Tyr578Ser|1815/6818|1733/5217|578/1738||,G|non_coding_transcript_exon_variant|MODIFIER|NALCN|ENSG00000102452|transcript|ENST00000470333.1|processed_transcript|14/15|n.1829A>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NALCN|ENSG00000102452|transcript|ENST00000497170.5|retained_intron|14/17|n.1887A>C||||||;known_AA=T;known_CLIN_pathogenic;known_E_Cited;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.973835;dbNSFP_Ensembl_proteinid=ENSP00000251127;dbNSFP_Ensembl_transcriptid=ENST00000251127;dbNSFP_FATHMM_score=-5.27;dbNSFP_LRT_score=0;dbNSFP_M_CAP_score=0.828786;dbNSFP_MPC_score=2.33894;dbNSFP_MVP_score=0.810071;dbNSFP_MetaLR_score=0.9787;dbNSFP_MetaSVM_score=1.0629;dbNSFP_MutPred_score=0.66;dbNSFP_MutationAssessor_score=3.655;dbNSFP_MutationTaster_score=1,1;dbNSFP_PROVEAN_score=-7.96;dbNSFP_Polyphen2_HDIV_score=0.999;dbNSFP_Polyphen2_HVAR_score=0.991;dbNSFP_PrimateAI_score=0.89859;dbNSFP_REVEL_score=0.976;dbNSFP_SIFT4G_score=0.001;dbNSFP_SIFT_score=0.001;dbNSFP_Uniprot_acc=Q8IZF0;dbNSFP_Uniprot_entry=NALCN_HUMAN;dbNSFP_VEST4_score=0.932 DP:AF:OBS:SB 100:0:57N+38N-4S-1V-:- 14 24255457 rs35312232 C T . . SVLEN=.;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=309.007;PROB_ABSENT=996.711;PROB_ARTIFACT=483.342;ANN=T|missense_variant|MODERATE|TGM1|ENSG00000092295|transcript|ENST00000206765.10|protein_coding|11/15|c.1552G>A|p.Val518Met|1676/2777|1552/2454|518/817||,T|missense_variant|MODERATE|TGM1|ENSG00000092295|transcript|ENST00000544573.5|protein_coding|5/9|c.226G>A|p.Val76Met|574/1581|226/1128|76/375||,T|missense_variant|MODERATE|TGM1|ENSG00000092295|transcript|ENST00000559136.1|protein_coding|7/7|c.625G>A|p.Val209Met|895/898|625/628|209/208||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TGM1|ENSG00000092295|transcript|ENST00000559669.1|protein_coding||c.-401G>A|||||401|WARNING_TRANSCRIPT_NO_START_CODON;known_AA=C;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=18;known_MAF=0.003594;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.467212,.,0.02193;dbNSFP_Ensembl_proteinid=ENSP00000206765,ENSP00000439446,ENSP00000453337;dbNSFP_Ensembl_transcriptid=ENST00000206765,ENST00000544573,ENST00000559136;dbNSFP_FATHMM_score=-1.44,-1.44,-1.69;dbNSFP_LRT_score=9e-06;dbNSFP_MPC_score=0.82695,.,.;dbNSFP_MetaLR_score=0.3547;dbNSFP_MetaSVM_score=-0.1011;dbNSFP_MutationAssessor_score=1.665,.,.;dbNSFP_MutationTaster_score=0.767037,0.716606;dbNSFP_PROVEAN_score=-1.42,-1.39,-0.81;dbNSFP_Polyphen2_HDIV_score=0.985,.,.;dbNSFP_Polyphen2_HVAR_score=0.832,.,.;dbNSFP_PrimateAI_score=0.41833;dbNSFP_REVEL_score=0.372;dbNSFP_SIFT4G_score=0.073,0.03,.;dbNSFP_SIFT_score=0.065,0.094,0.002;dbNSFP_Uniprot_acc=P22735,P22735-2,H0YLT9;dbNSFP_Uniprot_entry=TGM1_HUMAN,TGM1_HUMAN,H0YLT9_HUMAN;dbNSFP_VEST4_score=0.175,0.176,. DP:AF:OBS:SB 94:0.435944:31N-22N+22V-18V+1S+:. 15 82538982 rs6991 A G . . 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SVLEN=.;PROB_PRESENT=0;PROB_ABSENT=7348.51;PROB_FFPE_ARTIFACT=2903.23;PROB_ARTIFACT=2999.95;ANN=T|missense_variant|MODERATE|BBS2|ENSG00000125124|transcript|ENST00000245157.9|protein_coding|2/17|c.209G>A|p.Ser70Asn|630/2963|209/2166|70/721||,T|missense_variant|MODERATE|BBS2|ENSG00000125124|transcript|ENST00000568104.5|protein_coding|2/16|c.209G>A|p.Ser70Asn|388/2623|209/2028|70/675||,T|5_prime_UTR_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000569941.5|protein_coding|2/5|c.-389G>A|||||4618|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000561951.5|processed_transcript||n.-3311G>A|||||3311|,T|upstream_gene_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000565859.1|retained_intron||n.-4622G>A|||||4622|,T|upstream_gene_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000562012.1|nonsense_mediated_decay||c.-4600G>A|||||4600|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_transcript_exon_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000565781.5|retained_intron|2/12|n.223G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000566689.5|processed_transcript|2/5|n.200G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000565378.1|processed_transcript|2/5|n.192G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|BBS2|ENSG00000125124|transcript|ENST00000569342.5|retained_intron|2/9|n.343G>A||||||;known_AA=T;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=18;known_MAF=0.003594;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.225008,.;dbNSFP_Ensembl_proteinid=ENSP00000456289,ENSP00000245157;dbNSFP_Ensembl_transcriptid=ENST00000568104,ENST00000245157;dbNSFP_FATHMM_score=-1.16,-1.16;dbNSFP_LRT_score=0;dbNSFP_MPC_score=.,0.232113;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9091;dbNSFP_MutationTaster_score=0.999674,0.999674;dbNSFP_PROVEAN_score=2.81,2.95;dbNSFP_PrimateAI_score=0.701804;dbNSFP_REVEL_score=0.274;dbNSFP_SIFT4G_score=1,1;dbNSFP_SIFT_score=1,1;dbNSFP_Uniprot_acc=H3BRL0,.;dbNSFP_Uniprot_entry=H3BRL0_HUMAN,.;dbNSFP_VEST4_score=0.077,0.111 DP:AF:OBS:SB 217:1:132V-83V+2S+:. 17 3494408 rs12948217 C T . . SVLEN=.;PROB_FFPE_ARTIFACT=409.821;PROB_ABSENT=1554.29;PROB_ARTIFACT=788.991;PROB_PRESENT=0;ANN=T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|2Q51:A_231-A_292:ENST00000263080|protein_coding|5/6|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4MRI:A_231-A_284:ENST00000263080|protein_coding|5/6|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4MRI:B_231-B_284:ENST00000263080|protein_coding|5/6|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4MXU:A_231-A_284:ENST00000263080|protein_coding|5/6|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4NFR:A_231-A_292:ENST00000263080|protein_coding|5/6|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|2Q51:A_231-A_292:ENST00000456349|protein_coding|6/7|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4MRI:A_231-A_284:ENST00000456349|protein_coding|6/7|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4MRI:B_231-B_284:ENST00000456349|protein_coding|6/7|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4MXU:A_231-A_284:ENST00000456349|protein_coding|6/7|c.693C>T||||||,T|structural_interaction_variant|HIGH|ASPA|ENSG00000108381|interaction|4NFR:A_231-A_292:ENST00000456349|protein_coding|6/7|c.693C>T||||||,T|synonymous_variant|LOW|ASPA|ENSG00000108381|transcript|ENST00000263080.2|protein_coding|5/6|c.693C>T|p.Tyr231Tyr|851/5431|693/942|231/313||,T|synonymous_variant|LOW|ASPA|ENSG00000108381|transcript|ENST00000456349.6|protein_coding|6/7|c.693C>T|p.Tyr231Tyr|841/1090|693/942|231/313||,T|intron_variant|MODIFIER|SPATA22|ENSG00000141255|transcript|ENST00000541913.5|protein_coding|1/8|c.-74+19004G>A||||||,T|intron_variant|MODIFIER|SPATA22|ENSG00000141255|transcript|ENST00000570318.1|protein_coding|1/1|c.-74+19203G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON;known_AA=T;known_CLIN_benign;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=1020;known_MAF=0.2037;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 128:0.442266:40N-31N+29V+28V-:. 17 8003201 rs61749665 G T . . SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_PRESENT=0;PROB_ABSENT=888.383;PROB_ARTIFACT=410.511;ANN=T|missense_variant|MODERATE|GUCY2D|ENSG00000132518|transcript|ENST00000254854.4|protein_coding|2/20|c.154G>T|p.Ala52Ser|304/3698|154/3312|52/1103||,T|sequence_feature|LOW|GUCY2D|ENSG00000132518|topological-domain:Extracellular|ENST00000254854|protein_coding|2/20|c.154G>T||||||;known_AA=G;known_CLIN_benign;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=2083;known_MAF=0.4159;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.11857;dbNSFP_Ensembl_proteinid=ENSP00000254854;dbNSFP_Ensembl_transcriptid=ENST00000254854;dbNSFP_FATHMM_score=-1.68;dbNSFP_LRT_score=0.37872;dbNSFP_MPC_score=1.21741;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9014;dbNSFP_MutationAssessor_score=1.43;dbNSFP_MutationTaster_score=1;dbNSFP_PROVEAN_score=-0.85;dbNSFP_Polyphen2_HDIV_score=0.168;dbNSFP_Polyphen2_HVAR_score=0.035;dbNSFP_PrimateAI_score=0.813286;dbNSFP_REVEL_score=0.126;dbNSFP_SIFT4G_score=0.275;dbNSFP_SIFT_score=0.205;dbNSFP_Uniprot_acc=Q02846;dbNSFP_Uniprot_entry=GUC2D_HUMAN;dbNSFP_VEST4_score=0.04 DP:AF:OBS:SB 61:0.5312:18V+15N+14V-14N-:. 17 13011692 rs4792311 G A . . SVLEN=.;PROB_ABSENT=2776.35;PROB_ARTIFACT=1364.67;PROB_FFPE_ARTIFACT=814.566;PROB_PRESENT=0;ANN=A|missense_variant|MODERATE|ELAC2|ENSG00000006744|transcript|ENST00000338034.8|protein_coding|7/24|c.650C>T|p.Ser217Leu|890/3148|650/2481|217/826||,A|missense_variant|MODERATE|ELAC2|ENSG00000006744|transcript|ENST00000395962.6|protein_coding|7/24|c.593C>T|p.Ser198Leu|667/2924|593/2424|198/807||,A|missense_variant|MODERATE|ELAC2|ENSG00000006744|transcript|ENST00000584650.5|protein_coding|2/19|c.122C>T|p.Ser41Leu|124/2087|122/1878|41/625||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|ELAC2|ENSG00000006744|transcript|ENST00000581499.6|protein_coding|7/7|c.368C>T|p.Ser123Leu|552/581|368/397|123/131||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ELAC2|ENSG00000006744|transcript|ENST00000609757.5|protein_coding|7/7|c.368C>T|p.Ser123Leu|583/588|368/373|123/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ELAC2|ENSG00000006744|transcript|ENST00000609101.5|protein_coding|7/12|c.368C>T|p.Ser123Leu|507/866|368/727|123/241||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000446899.5|protein_coding||c.-23C>T|||||22|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000583371.5|protein_coding||c.*1C>T|||||1|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000578071.1|protein_coding||c.*1539C>T|||||32|,A|intron_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000426905.7|protein_coding|6/22|c.560-1021C>T||||||,A|intron_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000580504.5|protein_coding|6/8|c.278-1021C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_transcript_exon_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000484122.5|retained_intron|6/22|n.912C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|ELAC2|ENSG00000006744|transcript|ENST00000609345.1|processed_transcript|7/12|n.447C>T||||||;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=1074;known_MAF=0.2145;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.018461,.,0.010202,0.008565,0.012319;dbNSFP_Ensembl_proteinid=ENSP00000337445,ENSP00000379291,ENSP00000477044,ENSP00000463321,ENSP00000477093;dbNSFP_Ensembl_transcriptid=ENST00000338034,ENST00000395962,ENST00000609101,ENST00000581499,ENST00000609757;dbNSFP_FATHMM_score=-0.16,-0.18,.,-1.54,.;dbNSFP_LRT_score=0.066197;dbNSFP_MPC_score=0.224512,.,.,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9997;dbNSFP_MutationAssessor_score=2.43,.,.,.,.;dbNSFP_MutationTaster_score=1,1,0.999973;dbNSFP_PROVEAN_score=-0.67,-0.71,.,.,.;dbNSFP_Polyphen2_HDIV_score=0.356,0.488,.,.,.;dbNSFP_Polyphen2_HVAR_score=0.023,0.075,.,.,.;dbNSFP_REVEL_score=0.154;dbNSFP_SIFT4G_score=0.386,0.361,.,.,.;dbNSFP_SIFT_score=0.321,0.35,.,.,.;dbNSFP_Uniprot_acc=Q9BQ52,G5E9D5,V9GYS7,J3QL08,V9GYU5;dbNSFP_Uniprot_entry=RNZ2_HUMAN,G5E9D5_HUMAN,V9GYS7_HUMAN,J3QL08_HUMAN,V9GYU5_HUMAN;dbNSFP_VEST4_score=0.104,0.07,.,.,. DP:AF:OBS:SB 161:0.594037:50V+46V-33N+32N-:. 17 72122794 rs2229989 C T . . SVLEN=.;PROB_ARTIFACT=1358.28;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=782.386;PROB_ABSENT=2730.69;ANN=T|synonymous_variant|LOW|SOX9|ENSG00000125398|transcript|ENST00000245479.2|protein_coding|2/3|c.507C>T|p.His169His|879/3935|507/1530|169/509||,T|upstream_gene_variant|MODIFIER|SOX9-AS1|ENSG00000234899|transcript|ENST00000533232.5|retained_intron||n.-2001G>A|||||2001|,T|upstream_gene_variant|MODIFIER|SOX9-AS1|ENSG00000234899|transcript|ENST00000529667.1|lincRNA||n.-3301G>A|||||3301|,T|upstream_gene_variant|MODIFIER|SOX9-AS1|ENSG00000234899|transcript|ENST00000440093.6|lincRNA||n.-3346G>A|||||3346|,T|upstream_gene_variant|MODIFIER|SOX9-AS1|ENSG00000234899|transcript|ENST00000533179.1|lincRNA||n.-3271G>A|||||3271|,T|intron_variant|MODIFIER|SOX9-AS1|ENSG00000234899|transcript|ENST00000414600.1|lincRNA|1/1|n.96+18891G>A||||||,T|intron_variant|MODIFIER|SOX9-AS1|ENSG00000234899|transcript|ENST00000628742.2|lincRNA|2/6|n.147-37749G>A||||||;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_CLIN_uncertain_significance;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=684;known_MAF=0.1366;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 195:0.516154:54N+49V-47V+41N-4S+:. 18 2694683 rs886041918 C T . . SVLEN=.;PROB_PRESENT=0.120072;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=20.9078;PROB_ARTIFACT=17.1772;ANN=T|stop_gained|HIGH|SMCHD1|ENSG00000101596|transcript|ENST00000320876.10|protein_coding|8/48|c.1030C>T|p.Arg344*|1368/8821|1030/6018|344/2005||,T|intron_variant|MODIFIER|RP11-703M24.5|ENSG00000266049|transcript|ENST00000583546.1|antisense|2/3|n.371-2803G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|SMCHD1|ENSG00000101596|transcript|ENST00000581226.1|retained_intron|2/3|n.264C>T||||||;LOF=(SMCHD1|ENSG00000101596|13|0.08);NMD=(SMCHD1|ENSG00000101596|13|0.08);known_AA=C;known_CLIN_pathogenic;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000326603;dbNSFP_Ensembl_transcriptid=ENST00000320876;dbNSFP_MutationTaster_score=1,1;dbNSFP_Uniprot_acc=A6NHR9;dbNSFP_Uniprot_entry=SMHD1_HUMAN;dbNSFP_VEST4_score=0.859 DP:AF:OBS:SB 37:0.0540541:23N-12N+1V+1V-:. 19 44908684 rs429358 T C . . SVLEN=.;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=2202.78;PROB_ARTIFACT=1127.83;ANN=C|missense_variant|MODERATE|APOE|ENSG00000130203|transcript|ENST00000252486.8|protein_coding|4/4|c.388T>C|p.Cys130Arg|499/1208|388/954|130/317||,C|missense_variant|MODERATE|APOE|ENSG00000130203|transcript|ENST00000425718.1|protein_coding|3/3|c.388T>C|p.Cys130Arg|653/923|388/658|130/218||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOE|ENSG00000130203|transcript|ENST00000446996.5|protein_coding|4/4|c.388T>C|p.Cys130Arg|477/737|388/648|130/215||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|APOE|ENSG00000130203|transcript|ENST00000434152.5|protein_coding|4/4|c.466T>C|p.Cys156Arg|523/864|466/807|156/268||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CTB-129P6.7|ENSG00000280087|transcript|ENST00000623895.1|TEC||n.-691T>C|||||691|,C|downstream_gene_variant|MODIFIER|TOMM40|ENSG00000130204|transcript|ENST00000252487.9|protein_coding||c.*5515T>C|||||4995|,C|downstream_gene_variant|MODIFIER|TOMM40|ENSG00000130204|transcript|ENST00000405636.6|protein_coding||c.*5515T>C|||||4996|,C|downstream_gene_variant|MODIFIER|APOE|ENSG00000130203|transcript|ENST00000485628.2|retained_intron||n.*1358T>C|||||1358|,C|downstream_gene_variant|MODIFIER|TOMM40|ENSG00000130204|transcript|ENST00000592434.5|protein_coding||c.*7330T>C|||||4998|;known_AA=C;known_CLIN_association;known_CLIN_other;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=754;known_MAF=0.1506;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.098671,0.008612,.,.;dbNSFP_Ensembl_proteinid=ENSP00000252486,ENSP00000413135,ENSP00000413653,ENSP00000410423;dbNSFP_Ensembl_transcriptid=ENST00000252486,ENST00000446996,ENST00000434152,ENST00000425718;dbNSFP_FATHMM_score=-0.24,-1.45,-1.45,-1.45;dbNSFP_LRT_score=0.148941;dbNSFP_MPC_score=1.05397,.,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-1.0126;dbNSFP_MutationAssessor_score=-1.465,.,.,.;dbNSFP_MutationTaster_score=1;dbNSFP_PROVEAN_score=4.36,4.15,.,4.15;dbNSFP_Polyphen2_HDIV_score=0,.,.,.;dbNSFP_Polyphen2_HVAR_score=0.001,.,.,.;dbNSFP_PrimateAI_score=0.549231;dbNSFP_REVEL_score=0.229;dbNSFP_SIFT4G_score=0.829,1,0.889,1;dbNSFP_SIFT_score=1,1,.,1;dbNSFP_Uniprot_acc=P02649,E9PEV4,H0Y7L5,E7ERP7;dbNSFP_Uniprot_entry=APOE_HUMAN,E9PEV4_HUMAN,H0Y7L5_HUMAN,E7ERP7_HUMAN;dbNSFP_VEST4_score=0.051,.,.,. DP:AF:OBS:SB 199:0.519799:50N-50V-45N+41V+11S-2P-:. 2 232525489 rs61744404 C G . . SVLEN=.;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=273.472;PROB_ABSENT=829.226;ANN=G|missense_variant|MODERATE|PRSS56|ENSG00000237412|transcript|ENST00000449534.6|protein_coding|13/13|c.1798C>G|p.Pro600Ala|1934/2157|1798/1815|600/604||,G|missense_variant|MODERATE|PRSS56|ENSG00000237412|transcript|ENST00000617714.1|protein_coding|13/13|c.1795C>G|p.Pro599Ala|1931/2158|1795/1812|599/603||,G|upstream_gene_variant|MODIFIER|CHRND|ENSG00000135902|transcript|ENST00000258385.7|protein_coding||c.-727C>G|||||695|,G|upstream_gene_variant|MODIFIER|CHRND|ENSG00000135902|transcript|ENST00000543200.5|protein_coding||c.-727C>G|||||671|,G|upstream_gene_variant|MODIFIER|CHRND|ENSG00000135902|transcript|ENST00000446616.1|nonsense_mediated_decay||c.-727C>G|||||702|,G|upstream_gene_variant|MODIFIER|CHRND|ENSG00000135902|transcript|ENST00000449596.5|protein_coding||c.-727C>G|||||671|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CHRND|ENSG00000135902|transcript|ENST00000412233.5|nonsense_mediated_decay||c.-727C>G|||||699|,G|upstream_gene_variant|MODIFIER|CHRND|ENSG00000135902|transcript|ENST00000441621.6|nonsense_mediated_decay||c.-727C>G|||||504|,G|downstream_gene_variant|MODIFIER|PRSS56|ENSG00000237412|transcript|ENST00000602410.1|retained_intron||n.*2159C>G|||||2159|;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=107;known_MAF=0.02137;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.008313,0.003032;dbNSFP_Ensembl_proteinid=ENSP00000473410,ENSP00000479745;dbNSFP_Ensembl_transcriptid=ENST00000449534,ENST00000617714;dbNSFP_MutationAssessor_score=.,0;dbNSFP_PrimateAI_score=0.309332;dbNSFP_SIFT4G_score=0.567,0.57;dbNSFP_Uniprot_acc=R4GMZ0,P0CW18;dbNSFP_Uniprot_entry=R4GMZ0_HUMAN,PRS56_HUMAN;dbNSFP_VEST4_score=0.102,0.14 DP:AF:OBS:SB 65:0.544056:20V-16N-14N+12V+3S+:. 20 4699605 rs1799990 A G . . SVLEN=.;PROB_PRESENT=0;PROB_ARTIFACT=2834.75;PROB_ABSENT=5809.44;PROB_FFPE_ARTIFACT=inf;ANN=G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|1I4M:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|2W9E:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HEQ:A_129-A_162:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HEQ:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HEQ:B_129-B_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HES:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HES:B_129-B_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|4DGI:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|4KML:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|4N9O:A_129-A_163:ENST00000379440|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|1I4M:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|2W9E:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HEQ:A_129-A_162:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HEQ:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HEQ:B_129-B_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HES:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|3HES:B_129-B_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|4DGI:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|4KML:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|structural_interaction_variant|HIGH|PRNP|ENSG00000171867|interaction|4N9O:A_129-A_163:ENST00000430350|protein_coding|2/2|c.385A>G||||||,G|missense_variant|MODERATE|PRNP|ENSG00000171867|transcript|ENST00000379440.8|protein_coding|2/2|c.385A>G|p.Met129Val|672/2657|385/762|129/253||,G|missense_variant|MODERATE|PRNP|ENSG00000171867|transcript|ENST00000430350.2|protein_coding|2/2|c.385A>G|p.Met129Val|554/2539|385/762|129/253||,G|missense_variant|MODERATE|PRNP|ENSG00000171867|transcript|ENST00000424424.1|protein_coding|2/2|c.385A>G|p.Met129Val|444/806|385/747|129/248||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|PRNP|ENSG00000171867|transcript|ENST00000457586.1|protein_coding|2/2|c.385A>G|p.Met129Val|589/855|385/651|129/216||WARNING_TRANSCRIPT_NO_STOP_CODON;known_AA=A;known_CLIN_benign;known_CLIN_likely_benign;known_CLIN_pathogenic;known_CLIN_risk_factor;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=1335;known_MAF=0.2666;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.013434,0.013434,0.017881,.;dbNSFP_Ensembl_proteinid=ENSP00000368752,ENSP00000399376,ENSP00000411599,ENSP00000415284;dbNSFP_Ensembl_transcriptid=ENST00000379440,ENST00000430350,ENST00000424424,ENST00000457586;dbNSFP_FATHMM_score=-2.95,-2.95,-2.95,-1.42;dbNSFP_LRT_score=0.001589;dbNSFP_MPC_score=0.517063,.,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-1.0933;dbNSFP_MutationAssessor_score=1.01,1.01,.,.;dbNSFP_MutationTaster_score=0.184,0.184;dbNSFP_PROVEAN_score=-0.66,-0.66,-0.58,-0.71;dbNSFP_Polyphen2_HDIV_score=0.082,0.082,.,.;dbNSFP_Polyphen2_HVAR_score=0.036,0.036,.,.;dbNSFP_PrimateAI_score=0.453085;dbNSFP_REVEL_score=0.524;dbNSFP_SIFT4G_score=0.281,0.281,0.303,0.49;dbNSFP_SIFT_score=0.024,0.024,0.024,0.02;dbNSFP_Uniprot_acc=P04156,P04156,A2A2V1,X6RKS3;dbNSFP_Uniprot_entry=PRIO_HUMAN,PRIO_HUMAN,A2A2V1_HUMAN,X6RKS3_HUMAN;dbNSFP_VEST4_score=0.061,0.061,.,. DP:AF:OBS:SB 204:0.995098:96V-91V+14S+2P+1P-:. 22 19176219 rs431905510 GGC GGG . . SVLEN=.;PROB_ARTIFACT=0.0220306;PROB_ABSENT=46.0573;PROB_PRESENT=23.6906;PROB_FFPE_ARTIFACT=31.1916;ANN=GGG|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882.9|protein_coding|9/9|c.845G>C|p.Arg282Pro|1002/1648|845/936|282/311||,GGG|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283.5|protein_coding|9/9|c.536G>C|p.Arg179Pro|886/1514|536/627|179/208||,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926.5|protein_coding||c.*3998G>C|||||3252|,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000621271.4|protein_coding||c.*3998G>C|||||3252|,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000615606.4|retained_intron||n.*4512G>C|||||4512|,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000617103.4|nonsense_mediated_decay||c.*23541G>C|||||4512|,GGG|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824.1|processed_transcript||n.*1769G>C|||||1769|,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649.5|retained_intron||n.*3255G>C|||||3255|,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000622493.4|protein_coding||c.*3998G>C|||||3255|,GGG|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000617926.4|protein_coding||c.*3998G>C|||||3554|,GGG|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267.1|processed_transcript||n.*446G>C|||||446|,GGG|downstream_gene_variant|MODIFIER|LINC01311|ENSG00000260924|transcript|ENST00000565162.2|antisense||n.*3382C>G|||||3382|,GGG|non_coding_transcript_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922.5|retained_intron|8/8|n.987G>C||||||;known_AA=C;known_CLIN_pathogenic;known_E_Cited;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.798916,0.440556;dbNSFP_Ensembl_proteinid=ENSP00000215882,ENSP00000401480;dbNSFP_Ensembl_transcriptid=ENST00000215882,ENST00000451283;dbNSFP_FATHMM_score=-1.44,-1.44;dbNSFP_LRT_score=0;dbNSFP_M_CAP_score=0.710465;dbNSFP_MPC_score=1.63429,.;dbNSFP_MVP_score=0.91779,0.91779;dbNSFP_MetaLR_score=0.6405;dbNSFP_MetaSVM_score=0.3342;dbNSFP_MutPred_score=0.692;dbNSFP_MutationAssessor_score=1.745,.;dbNSFP_MutationTaster_score=1,1;dbNSFP_PROVEAN_score=-6.52,-6.52;dbNSFP_Polyphen2_HDIV_score=1,.;dbNSFP_Polyphen2_HVAR_score=0.999,.;dbNSFP_PrimateAI_score=0.74304;dbNSFP_REVEL_score=0.889;dbNSFP_SIFT4G_score=0.002,0.003;dbNSFP_SIFT_score=0,0;dbNSFP_Uniprot_acc=P53007,B4DP62;dbNSFP_Uniprot_entry=TXTP_HUMAN,B4DP62_HUMAN;dbNSFP_VEST4_score=0.948,0.952 DP:AF:OBS:SB 118:0:60N-49N+8S-1V-:- 3 38603929 rs1805124 T C . . SVLEN=.;PROB_ABSENT=2395.06;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=1055.6;ANN=C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000333535.8|protein_coding|12/28|c.1673A>G|p.His558Arg|1823/8456|1673/6051|558/2016||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000414099.6|protein_coding|11/26|c.1673A>G|p.His558Arg|1715/8303|1673/5997|558/1998||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000423572.6|protein_coding|11/27|c.1673A>G|p.His558Arg|1728/8362|1673/6048|558/2015||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000455624.6|protein_coding|11/27|c.1673A>G|p.His558Arg|1698/7170|1673/5952|558/1983||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000450102.6|protein_coding|11/26|c.1673A>G|p.His558Arg|1715/6284|1673/5889|558/1962||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000413689.5|protein_coding|12/28|c.1673A>G|p.His558Arg|1867/8504|1673/6051|558/2016||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000425664.5|protein_coding|12/27|c.1673A>G|p.His558Arg|1867/8450|1673/5997|558/1998||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000451551.6|protein_coding|12/27|c.1673A>G|p.His558Arg|1868/8343|1673/5889|558/1962||,C|missense_variant|MODERATE|SCN5A|ENSG00000183873|transcript|ENST00000449557.6|protein_coding|11/26|c.1673A>G|p.His558Arg|1682/5898|1673/5889|558/1962||;known_AA=C;known_CLIN_benign;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=1154;known_MAF=0.2304;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,.,.,.,.,0.407547,.,.,.;dbNSFP_Ensembl_proteinid=ENSP00000398962,ENSP00000398266,ENSP00000410257,ENSP00000416634,ENSP00000388797,ENSP00000328968,ENSP00000399524,ENSP00000403355,ENSP00000413996;dbNSFP_Ensembl_transcriptid=ENST00000414099,ENST00000423572,ENST00000413689,ENST00000425664,ENST00000451551,ENST00000333535,ENST00000455624,ENST00000450102,ENST00000449557;dbNSFP_FATHMM_score=-3.39,-3.41,-3.41,-3.39,-3.46,-3.42,-3.47,-3.46,-3.46;dbNSFP_LRT_score=0.009278;dbNSFP_MPC_score=.,.,0.424749,.,.,.,.,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9243;dbNSFP_MutationAssessor_score=.,-2.58,.,.,.,-2.58,.,.,.;dbNSFP_MutationTaster_score=0.997772,0.997772,0.997772,0.997772,0.997772,0.997772,0.997772,0.997772,0.997772,0.997772;dbNSFP_PROVEAN_score=3.92,3.79,3.92,3.92,3.69,3.92,3.79,3.69,3.69;dbNSFP_Polyphen2_HDIV_score=0,0,.,0,.,0,0,.,.;dbNSFP_Polyphen2_HVAR_score=0,0,.,0,.,0,0,.,.;dbNSFP_PrimateAI_score=0.295708;dbNSFP_REVEL_score=0.291;dbNSFP_SIFT4G_score=1,1,1,1,1,1,1,1,1;dbNSFP_SIFT_score=1,1,1,1,1,1,1,1,1;dbNSFP_Uniprot_acc=E9PG18,Q14524-2,H9KVD2,E9PG18,K4DIA1,Q14524,E9PHB6,K4DIA1,A0A0A0MT39;dbNSFP_Uniprot_entry=E9PG18_HUMAN,SCN5A_HUMAN,H9KVD2_HUMAN,E9PG18_HUMAN,K4DIA1_HUMAN,SCN5A_HUMAN,E9PHB6_HUMAN,K4DIA1_HUMAN,A0A0A0MT39_HUMAN;dbNSFP_VEST4_score=0.029,0.091,0.077,0.099,0.076,0.102,0.053,0.078,0.108 DP:AF:OBS:SB 213:0.490094:55N-53N+50V+49V-6S-:. 3 39265765 rs3732379 C T . . SVLEN=.;PROB_ABSENT=2164.51;PROB_PRESENT=0;PROB_ARTIFACT=1074.6;PROB_FFPE_ARTIFACT=549.361;ANN=T|missense_variant|MODERATE|CX3CR1|ENSG00000168329|transcript|ENST00000399220.2|protein_coding|2/2|c.745G>A|p.Val249Ile|835/3106|745/1068|249/355||,T|missense_variant|MODERATE|CX3CR1|ENSG00000168329|transcript|ENST00000358309.3|protein_coding|2/2|c.841G>A|p.Val281Ile|881/3151|841/1164|281/387||,T|missense_variant|MODERATE|CX3CR1|ENSG00000168329|transcript|ENST00000542107.5|protein_coding|2/2|c.745G>A|p.Val249Ile|945/3215|745/1068|249/355||,T|missense_variant|MODERATE|CX3CR1|ENSG00000168329|transcript|ENST00000541347.5|protein_coding|2/2|c.745G>A|p.Val249Ile|985/3255|745/1068|249/355||,T|downstream_gene_variant|MODIFIER|CX3CR1|ENSG00000168329|transcript|ENST00000435290.1|protein_coding||c.*246G>A|||||246|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CX3CR1|ENSG00000168329|transcript|ENST00000412814.1|protein_coding||c.*426G>A|||||426|WARNING_TRANSCRIPT_INCOMPLETE;known_AA=C;known_CLIN_pathogenic;known_CLIN_protective;known_CLIN_risk_factor;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=723;known_MAF=0.1444;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.053007,0.053007,0.053007,.;dbNSFP_Ensembl_proteinid=ENSP00000382166,ENSP00000444928,ENSP00000439140,ENSP00000351059;dbNSFP_Ensembl_transcriptid=ENST00000399220,ENST00000542107,ENST00000541347,ENST00000358309;dbNSFP_FATHMM_score=-0.4,-0.4,-0.4,-0.4;dbNSFP_LRT_score=0.073733;dbNSFP_MPC_score=.,.,.,0.236397;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-1.0593;dbNSFP_MutationAssessor_score=-0.025,-0.025,-0.025,.;dbNSFP_MutationTaster_score=1,1,1,1;dbNSFP_PROVEAN_score=0.4,0.4,0.4,0.4;dbNSFP_Polyphen2_HDIV_score=0.033,0.033,0.033,.;dbNSFP_Polyphen2_HVAR_score=0.018,0.018,0.018,.;dbNSFP_PrimateAI_score=0.2433;dbNSFP_REVEL_score=0.046;dbNSFP_SIFT4G_score=1,1,1,1;dbNSFP_SIFT_score=1,1,1,1;dbNSFP_Uniprot_acc=P49238,P49238,P49238,P49238-4;dbNSFP_Uniprot_entry=CX3C1_HUMAN,CX3C1_HUMAN,CX3C1_HUMAN,CX3C1_HUMAN;dbNSFP_VEST4_score=0.045,0.04,0.052,0.037 DP:AF:OBS:SB 202:0.423218:62N+55N-41V-39V+3S+2S-:. 3 45772602 rs17279437 G A . . SVLEN=.;PROB_ABSENT=1029.79;PROB_PRESENT=0;PROB_FFPE_ARTIFACT=266.868;PROB_ARTIFACT=460.052;ANN=A|missense_variant|MODERATE|SLC6A20|ENSG00000163817|transcript|ENST00000358525.8|protein_coding|5/11|c.596C>T|p.Thr199Met|712/5423|596/1779|199/592||,A|missense_variant|MODERATE|SLC6A20|ENSG00000163817|transcript|ENST00000456124.6|protein_coding|5/12|c.596C>T|p.Thr199Met|660/2662|596/1644|199/547||,A|missense_variant|MODERATE|SLC6A20|ENSG00000163817|transcript|ENST00000413781.1|protein_coding|4/5|c.455C>T|p.Thr152Met|571/910|455/794|152/263||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SLC6A20|ENSG00000163817|transcript|ENST00000473146.5|retained_intron||n.-263C>T|||||263|,A|intron_variant|MODIFIER|SLC6A20|ENSG00000163817|transcript|ENST00000353278.8|protein_coding|4/9|c.583-1144C>T||||||;known_AA=G;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=166;known_MAF=0.03315;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.276466,0.143856,.;dbNSFP_Ensembl_proteinid=ENSP00000346298,ENSP00000404310,ENSP00000395506;dbNSFP_Ensembl_transcriptid=ENST00000358525,ENST00000456124,ENST00000413781;dbNSFP_FATHMM_score=-1.13,-1.13,-1.13;dbNSFP_LRT_score=1e-06;dbNSFP_MPC_score=0.879387,.,.;dbNSFP_MetaLR_score=0.0749;dbNSFP_MetaSVM_score=-0.429;dbNSFP_MutationAssessor_score=4.17,.,.;dbNSFP_MutationTaster_score=0.999275,0.999275,1;dbNSFP_PROVEAN_score=-5.46,-5.26,-5.42;dbNSFP_Polyphen2_HDIV_score=1,.,.;dbNSFP_Polyphen2_HVAR_score=1,.,.;dbNSFP_PrimateAI_score=0.524037;dbNSFP_REVEL_score=0.725;dbNSFP_SIFT4G_score=0,0,.;dbNSFP_SIFT_score=0,0,0;dbNSFP_Uniprot_acc=Q9NP91,B7ZLW4,C9JIN6;dbNSFP_Uniprot_entry=S6A20_HUMAN,B7ZLW4_HUMAN,C9JIN6_HUMAN;dbNSFP_VEST4_score=0.576,0.325,. DP:AF:OBS:SB 111:0.366216:39N-31N+23V-18V+:. 4 6291188 rs10010131 A G . . SVLEN=.;PROB_PRESENT=0;PROB_ABSENT=2642.08;PROB_ARTIFACT=1278.81;PROB_FFPE_ARTIFACT=inf;ANN=G|upstream_gene_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000513395.1|retained_intron||n.-3583A>G|||||3583|,G|downstream_gene_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000506588.5|retained_intron||n.*3911A>G|||||3911|,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000226760.5|protein_coding|4/7|c.461-9A>G||||||,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000503569.5|protein_coding|4/7|c.461-9A>G||||||,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000507765.1|retained_intron|1/4|n.646-9A>G||||||,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000506362.1|protein_coding|1/4|c.56-9A>G||||||WARNING_TRANSCRIPT_NO_START_CODON;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=1358;known_MAF=0.2712;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 182:0.51978:51N+48V+44V-37N-2S+:. 4 6293966 rs6446482 C G . . SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=67.7494;PROB_ARTIFACT=32.98;PROB_PRESENT=0.00218794;ANN=G|upstream_gene_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000513395.1|retained_intron||n.-805C>G|||||805|,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000226760.5|protein_coding|6/7|c.713-1075C>G||||||,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000503569.5|protein_coding|6/7|c.713-1075C>G||||||,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000507765.1|retained_intron|3/4|n.898-1075C>G||||||,G|intron_variant|MODIFIER|WFS1|ENSG00000109501|transcript|ENST00000506362.1|protein_coding|3/4|c.308-1039C>G||||||WARNING_TRANSCRIPT_NO_START_CODON;known_AA=C;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=1396;known_MAF=0.2788;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 2:1:1V+1V-:. 4 186236880 rs3733402 G A . . SVLEN=.;PROB_ABSENT=1502.08;PROB_FFPE_ARTIFACT=439.846;PROB_ARTIFACT=677.265;PROB_PRESENT=0;ANN=A|missense_variant|MODERATE|KLKB1|ENSG00000164344|transcript|ENST00000264690.10|protein_coding|5/15|c.428G>A|p.Ser143Asn|615/2363|428/1917|143/638||,A|missense_variant|MODERATE|KLKB1|ENSG00000164344|transcript|ENST00000513864.2|protein_coding|6/15|c.314G>A|p.Ser105Asn|568/2175|314/1545|105/514||,A|missense_variant|MODERATE|KLKB1|ENSG00000164344|transcript|ENST00000428196.5|protein_coding|6/6|c.428G>A|p.Ser143Asn|629/645|428/444|143/147||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|KLKB1|ENSG00000164344|transcript|ENST00000446598.6|protein_coding|5/6|c.314G>A|p.Ser105Asn|460/569|314/423|105/140||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|KLKB1|ENSG00000164344|transcript|ENST00000511608.5|protein_coding|5/15|c.569G>A|p.Ser190Asn|571/2317|569/2058|190/685||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_transcript_exon_variant|MODIFIER|KLKB1|ENSG00000164344|transcript|ENST00000511406.5|retained_intron|5/15|n.458G>A||||||;known_AA=A;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=1980;known_MAF=0.3954;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.210631,.,0.214533,0.184974;dbNSFP_Ensembl_proteinid=ENSP00000412366,ENSP00000264690,ENSP00000415563,ENSP00000424469;dbNSFP_Ensembl_transcriptid=ENST00000428196,ENST00000264690,ENST00000446598,ENST00000513864;dbNSFP_FATHMM_score=-2.33,-2.33,-2.33,.;dbNSFP_LRT_score=3.9e-05;dbNSFP_MPC_score=.,0.102143,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-1.0136;dbNSFP_MutationTaster_score=1,1;dbNSFP_PROVEAN_score=2.36,1.99,2.8,.;dbNSFP_PrimateAI_score=0.441024;dbNSFP_REVEL_score=0.218;dbNSFP_SIFT4G_score=1,1,1,1;dbNSFP_SIFT_score=1,1,1,.;dbNSFP_Uniprot_acc=C9J075,.,C9JCT1,E9PBC5;dbNSFP_Uniprot_entry=C9J075_HUMAN,.,C9JCT1_HUMAN,E9PBC5_HUMAN;dbNSFP_VEST4_score=.,0.224,.,0.212 DP:AF:OBS:SB 105:0.519143:31V-29N-23V+21N+1S-:. 5 74685445 rs820878 T C . . SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=5883.53;PROB_PRESENT=0;PROB_ARTIFACT=2630.1;ANN=C|missense_variant|MODERATE|HEXB|ENSG00000049860|transcript|ENST00000261416.11|protein_coding|1/14|c.185T>C|p.Leu62Ser|302/1901|185/1671|62/556||,C|intron_variant|MODIFIER|HEXB|ENSG00000049860|transcript|ENST00000511181.5|protein_coding|1/13|c.-376-3883T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|HEXB|ENSG00000049860|transcript|ENST00000513079.5|retained_intron|1/6|n.250T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|HEXB|ENSG00000049860|transcript|ENST00000515528.1|retained_intron|1/2|n.240T>C||||||;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=93;known_MAF=0.01857;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000261416;dbNSFP_Ensembl_transcriptid=ENST00000261416;dbNSFP_FATHMM_score=-0.42;dbNSFP_LRT_score=0.012864;dbNSFP_MPC_score=0.243265;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9095;dbNSFP_MutationTaster_score=1,0.9995;dbNSFP_PROVEAN_score=2.73;dbNSFP_PrimateAI_score=0.544385;dbNSFP_REVEL_score=0.11;dbNSFP_SIFT4G_score=0.833;dbNSFP_SIFT_score=1;dbNSFP_VEST4_score=0.025 DP:AF:OBS:SB 199:0.994975:101V+93V-4S-1P-:. 5 119475838 rs25640 G A . . SVLEN=.;PROB_ARTIFACT=349.625;PROB_FFPE_ARTIFACT=207.483;PROB_PRESENT=0;PROB_ABSENT=726.866;ANN=A|structural_interaction_variant|HIGH|HSD17B4|ENSG00000133835|interaction|1ZBQ:A_106-A_160:ENST00000256216|protein_coding|6/24|c.317G>A||||||,A|structural_interaction_variant|HIGH|HSD17B4|ENSG00000133835|interaction|1ZBQ:B_106-B_160:ENST00000256216|protein_coding|6/24|c.317G>A||||||,A|structural_interaction_variant|HIGH|HSD17B4|ENSG00000133835|interaction|1ZBQ:C_106-C_160:ENST00000256216|protein_coding|6/24|c.317G>A||||||,A|structural_interaction_variant|HIGH|HSD17B4|ENSG00000133835|interaction|1ZBQ:D_106-D_160:ENST00000256216|protein_coding|6/24|c.317G>A||||||,A|structural_interaction_variant|HIGH|HSD17B4|ENSG00000133835|interaction|1ZBQ:E_106-E_160:ENST00000256216|protein_coding|6/24|c.317G>A||||||,A|structural_interaction_variant|HIGH|HSD17B4|ENSG00000133835|interaction|1ZBQ:F_106-F_160:ENST00000256216|protein_coding|6/24|c.317G>A||||||,A|missense_variant|MODERATE|HSD17B4|ENSG00000133835|transcript|ENST00000256216.10|protein_coding|6/24|c.317G>A|p.Arg106His|450/2683|317/2211|106/736||,A|missense_variant|MODERATE|HSD17B4|ENSG00000133835|transcript|ENST00000504811.5|protein_coding|7/25|c.392G>A|p.Arg131His|576/2740|392/2286|131/761||,A|missense_variant|MODERATE|HSD17B4|ENSG00000133835|transcript|ENST00000515320.5|protein_coding|5/23|c.263G>A|p.Arg88His|342/2494|263/2157|88/718||,A|missense_variant|MODERATE|HSD17B4|ENSG00000133835|transcript|ENST00000510025.5|protein_coding|7/25|c.245G>A|p.Arg82His|420/2589|245/2139|82/712||,A|missense_variant|MODERATE|HSD17B4|ENSG00000133835|transcript|ENST00000442060.7|nonsense_mediated_decay|6/25|c.317G>A|p.Arg106His|396/2686|317/1503|106/500||,A|5_prime_UTR_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000414835.6|protein_coding|6/24|c.-95G>A|||||1641|,A|upstream_gene_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000509514.5|protein_coding||c.-19894G>A|||||791|,A|upstream_gene_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000513628.5|protein_coding||c.-1641G>A|||||704|,A|upstream_gene_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000512644.1|retained_intron||n.-2994G>A|||||2994|,A|upstream_gene_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000508788.5|processed_transcript||n.-733G>A|||||733|,A|upstream_gene_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000505181.5|processed_transcript||n.-610G>A|||||610|,A|downstream_gene_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000519184.5|processed_transcript||n.*1858G>A|||||1858|,A|non_coding_transcript_exon_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000515235.6|retained_intron|6/25|n.377G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000512841.5|processed_transcript|6/8|n.365G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000503168.5|retained_intron|6/8|n.306G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000511186.5|retained_intron|6/7|n.448G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|HSD17B4|ENSG00000133835|transcript|ENST00000507695.1|retained_intron|5/5|n.289G>A||||||;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=1816;known_MAF=0.3626;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.664265,.,.,0.664265,.,.,.,0.560512;dbNSFP_Ensembl_proteinid=ENSP00000256216,ENSP00000494892,ENSP00000424613,ENSP00000424940,ENSP00000411960,ENSP00000420914,ENSP00000493579,ENSP00000494133;dbNSFP_Ensembl_transcriptid=ENST00000256216,ENST00000646590,ENST00000515320,ENST00000510025,ENST00000414835,ENST00000504811,ENST00000646058,ENST00000646125;dbNSFP_FATHMM_score=-2.29,.,-2.29,.,.,-2.29,.,.;dbNSFP_LRT_score=7e-06;dbNSFP_MPC_score=.,.,.,.,.,0.193914,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9753;dbNSFP_MutationAssessor_score=0.995,.,.,0.995,.,.,.,.;dbNSFP_MutationTaster_score=3.75267e-09,3.75267e-09,3.75267e-09,2.28706e-08,1e-37;dbNSFP_PROVEAN_score=-3.39,.,-3.39,.,.,-3.27,.,.;dbNSFP_Polyphen2_HDIV_score=0.985,.,.,0.985,.,.,.,0.991;dbNSFP_Polyphen2_HVAR_score=0.434,.,.,0.434,.,.,.,0.489;dbNSFP_PrimateAI_score=0.501429;dbNSFP_REVEL_score=0.58;dbNSFP_SIFT4G_score=0.012,.,0.009,.,.,0.009,.,.;dbNSFP_SIFT_score=0.02,.,0.014,.,.,0.008,.,.;dbNSFP_Uniprot_acc=P51659,A0A2R8YDT8,P51659-3,P51659,P51659-2,P51659-2,A0A2R8YD50,E7EWE5;dbNSFP_Uniprot_entry=DHB4_HUMAN,A0A2R8YDT8_HUMAN,DHB4_HUMAN,DHB4_HUMAN,DHB4_HUMAN,DHB4_HUMAN,A0A2R8YD50_HUMAN,E7EWE5_HUMAN;dbNSFP_VEST4_score=0.212,.,0.263,.,.,0.127,.,. DP:AF:OBS:SB 66:0.43067:23N-15V-15N+13V+:. 5 123378398 rs114280473 G A . . SVLEN=.;PROB_PRESENT=3.64251e-07;PROB_ARTIFACT=132.23;PROB_ABSENT=268.174;PROB_FFPE_ARTIFACT=70.7638;ANN=A|missense_variant|MODERATE|CEP120|ENSG00000168944|transcript|ENST00000508442.6|protein_coding|15/19|c.2056C>T|p.Leu686Phe|2169/2645|2056/2532|686/843||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CEP120|ENSG00000168944|transcript|ENST00000306467.9|protein_coding|15/20|c.2134C>T|p.Leu712Phe|2439/4900|2134/2961|712/986||,A|missense_variant|MODERATE|CEP120|ENSG00000168944|transcript|ENST00000306481.10|protein_coding|15/20|c.2056C>T|p.Leu686Phe|2169/4629|2056/2883|686/960||,A|missense_variant|MODERATE|CEP120|ENSG00000168944|transcript|ENST00000328236.9|protein_coding|16/21|c.2134C>T|p.Leu712Phe|2250/4710|2134/2961|712/986||,A|3_prime_UTR_variant|MODIFIER|CEP120|ENSG00000168944|transcript|ENST00000508138.5|nonsense_mediated_decay|18/23|c.*1706C>T|||||24854|,A|3_prime_UTR_variant|MODIFIER|CEP120|ENSG00000168944|transcript|ENST00000513565.6|nonsense_mediated_decay|15/21|c.*1344C>T|||||11863|;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=9;known_MAF=0.001797;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.362366,0.362366,.,0.37563;dbNSFP_Ensembl_proteinid=ENSP00000303058,ENSP00000327504,ENSP00000307419,ENSP00000421620;dbNSFP_Ensembl_transcriptid=ENST00000306467,ENST00000328236,ENST00000306481,ENST00000508442;dbNSFP_FATHMM_score=0.08,0.08,0.08,0.08;dbNSFP_LRT_score=0;dbNSFP_MPC_score=0.446141,.,.,.;dbNSFP_MVP_score=0.804375,0.804375,0.804375,0.804375;dbNSFP_MetaLR_score=0.316;dbNSFP_MetaSVM_score=-0.3371;dbNSFP_MutationAssessor_score=2.915,2.915,.,.;dbNSFP_MutationTaster_score=0.999982,0.999982,0.999982;dbNSFP_PROVEAN_score=-3.37,-3.37,-3.37,-3.24;dbNSFP_Polyphen2_HDIV_score=1,1,.,.;dbNSFP_Polyphen2_HVAR_score=0.997,0.997,.,.;dbNSFP_PrimateAI_score=0.659508;dbNSFP_REVEL_score=0.319;dbNSFP_SIFT4G_score=0.004,0.004,0.004,0.011;dbNSFP_SIFT_score=0,0,0,0;dbNSFP_Uniprot_acc=Q8N960,Q8N960,Q8N960-2,D6REX9;dbNSFP_Uniprot_entry=CE120_HUMAN,CE120_HUMAN,CE120_HUMAN,D6REX9_HUMAN;dbNSFP_VEST4_score=0.95,0.95,0.943,. DP:AF:OBS:SB 41:0.293844:16N-13N+6V-5V+1S-:. 5 177093242 rs351855 G A . . SVLEN=.;PROB_PRESENT=0;PROB_ARTIFACT=1497.33;PROB_FFPE_ARTIFACT=808.843;PROB_ABSENT=2940.71;ANN=A|missense_variant|MODERATE|FGFR4|ENSG00000160867|transcript|ENST00000292408.8|protein_coding|9/18|c.1162G>A|p.Gly388Arg|1407/3122|1162/2409|388/802||,A|missense_variant|MODERATE|FGFR4|ENSG00000160867|transcript|ENST00000502906.5|protein_coding|9/18|c.1162G>A|p.Gly388Arg|1335/2638|1162/2409|388/802||,A|missense_variant|MODERATE|FGFR4|ENSG00000160867|transcript|ENST00000511076.1|protein_coding|1/6|c.67G>A|p.Gly23Arg|68/838|67/837|23/278||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000513423.1|retained_intron||n.-3949G>A|||||3949|,A|upstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000483872.2|retained_intron||n.-1583G>A|||||1583|,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000430285.5|nonsense_mediated_decay||c.*2808G>A|||||2138|,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000426612.5|retained_intron||n.*2146G>A|||||2146|,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000509511.5|retained_intron||n.*174G>A|||||174|,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000507708.1|processed_transcript||n.*2679G>A|||||2679|,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000503708.5|protein_coding||c.*2138G>A|||||2138|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000514472.1|protein_coding||c.*2601G>A|||||2601|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000510911.5|protein_coding||c.*2682G>A|||||2682|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000513166.1|protein_coding||c.*2620G>A|||||2620|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000393637.5|protein_coding|7/15|c.1058-90G>A||||||,A|intron_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000393648.6|protein_coding|9/17|c.1097+65G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|FGFR4|ENSG00000160867|transcript|ENST00000508139.1|retained_intron|4/4|n.466G>A||||||;known_AA=G;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=1500;known_MAF=0.2995;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.259171,0.259171;dbNSFP_Ensembl_proteinid=ENSP00000292408,ENSP00000424960;dbNSFP_Ensembl_transcriptid=ENST00000292408,ENST00000502906;dbNSFP_FATHMM_score=-1.67,-1.67;dbNSFP_LRT_score=0.005687;dbNSFP_MPC_score=0.827513,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.884;dbNSFP_MutationAssessor_score=1.5,1.5;dbNSFP_MutationTaster_score=0.0177303,0.0177303,3.48336e-32,3.48336e-32,3.48336e-32;dbNSFP_PROVEAN_score=-0.16,-0.16;dbNSFP_Polyphen2_HDIV_score=0.998,0.998;dbNSFP_Polyphen2_HVAR_score=0.7,0.7;dbNSFP_PrimateAI_score=0.476969;dbNSFP_REVEL_score=0.519;dbNSFP_SIFT4G_score=0.358,0.358;dbNSFP_SIFT_score=0.12,0.12;dbNSFP_Uniprot_acc=P22455,P22455;dbNSFP_Uniprot_entry=FGFR4_HUMAN,FGFR4_HUMAN;dbNSFP_VEST4_score=0.469,0.231 DP:AF:OBS:SB 209:0.507368:57N+53V+52V-46N-1P+:. 6 6320575 rs2815822 T G . . SVLEN=.;PROB_ABSENT=694.98;PROB_PRESENT=0;PROB_ARTIFACT=266.789;PROB_FFPE_ARTIFACT=inf;ANN=G|intron_variant|MODIFIER|F13A1|ENSG00000124491|transcript|ENST00000264870.7|protein_coding|1/14|c.-19+12A>C||||||,G|intron_variant|MODIFIER|F13A1|ENSG00000124491|transcript|ENST00000451619.1|protein_coding|1/2|c.54+12A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|F13A1|ENSG00000124491|transcript|ENST00000414279.5|protein_coding|2/4|c.-19+12A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|F13A1|ENSG00000124491|transcript|ENST00000431222.6|protein_coding|2/4|c.144+12A>C||||||WARNING_TRANSCRIPT_INCOMPLETE;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=591;known_MAF=0.118;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 58:0.433413:21N+15V+12N-10V-:. 7 150999023 rs1799983 T G . . SVLEN=.;PROB_PRESENT=0;PROB_ARTIFACT=1360.78;PROB_ABSENT=2702.36;PROB_FFPE_ARTIFACT=inf;ANN=G|missense_variant|MODERATE|NOS3|ENSG00000164867|transcript|ENST00000297494.7|protein_coding|8/27|c.894T>G|p.Asp298Glu|1251/4388|894/3612|298/1203||,G|missense_variant|MODERATE|NOS3|ENSG00000164867|transcript|ENST00000467517.1|protein_coding|7/14|c.894T>G|p.Asp298Glu|894/2377|894/1845|298/614||,G|missense_variant|MODERATE|NOS3|ENSG00000164867|transcript|ENST00000484524.5|protein_coding|7/14|c.894T>G|p.Asp298Glu|894/2537|894/1890|298/629||,G|missense_variant|MODERATE|NOS3|ENSG00000164867|transcript|ENST00000461406.5|protein_coding|5/24|c.276T>G|p.Asp92Glu|621/3644|276/2994|92/997||,G|upstream_gene_variant|MODIFIER|NOS3|ENSG00000164867|transcript|ENST00000460603.1|processed_transcript||n.-2844T>G|||||2844|;known_AA=G;known_CLIN_benign;known_CLIN_pathogenic;known_CLIN_risk_factor;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=883;known_MAF=0.1763;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,0.005603,.,.;dbNSFP_Ensembl_proteinid=ENSP00000297494,ENSP00000417143,ENSP00000420215,ENSP00000420551;dbNSFP_Ensembl_transcriptid=ENST00000297494,ENST00000461406,ENST00000484524,ENST00000467517;dbNSFP_FATHMM_score=2.12,2.12,2.12,2.12;dbNSFP_LRT_score=0.000676;dbNSFP_MPC_score=0.0606724,.,.,.;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9572;dbNSFP_MutationTaster_score=0.99996,0.99996,0.999969,0.99996;dbNSFP_PROVEAN_score=0.9,0.78,0.87,0.87;dbNSFP_Polyphen2_HDIV_score=.,0,.,.;dbNSFP_Polyphen2_HVAR_score=.,0.001,.,.;dbNSFP_PrimateAI_score=0.426337;dbNSFP_REVEL_score=0.057;dbNSFP_SIFT4G_score=1,1,1,1;dbNSFP_SIFT_score=1,1,1,1;dbNSFP_Uniprot_acc=P29474,E7ESA7,P29474-2,P29474-3;dbNSFP_Uniprot_entry=NOS3_HUMAN,E7ESA7_HUMAN,NOS3_HUMAN,NOS3_HUMAN;dbNSFP_VEST4_score=0.048,0.021,0.043,0.043 DP:AF:OBS:SB 79:0.987342:40V+37V-1S-1S+:. 8 11748803 rs3735819 T C . . SVLEN=.;PROB_ABSENT=324.019;PROB_PRESENT=1.62144e-07;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=74.2788;ANN=C|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000532059.5|protein_coding|1/5|c.617-113T>C||||||,C|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000528712.5|protein_coding|2/6|c.-5-113T>C||||||,C|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526716.5|protein_coding|1/4|c.-5-113T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000335135.8|protein_coding|2/6|c.617-116T>C||||||,C|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000622443.2|protein_coding|4/8|c.614-116T>C||||||;known_AA=C;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=643;known_MAF=0.1284;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 26:0.464497:12N+9V+3V-2N-:. 8 11755189 rs804280 C A . . SVLEN=.;PROB_ARTIFACT=393.996;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=837.734;PROB_PRESENT=0;ANN=A|upstream_gene_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526021.1|retained_intron||n.-1304C>A|||||1304|,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000532059.5|protein_coding|4/5|c.1000+56C>A||||||,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000528712.5|protein_coding|5/6|c.379+56C>A||||||,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526716.5|protein_coding|4/4|c.379+56C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000335135.8|protein_coding|5/6|c.997+56C>A||||||,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000622443.2|protein_coding|7/8|c.994+56C>A||||||;known_AA=A;known_CLIN_pathogenic;known_CLIN_uncertain_significance;known_E_1000G;known_E_Cited;known_E_ESP;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=C;known_MAC=1330;known_MAF=0.2656;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 43:0.673362:16V-13V+8N-6N+:. 8 11755333 rs3729851 G A . . SVLEN=.;PROB_ARTIFACT=24.3397;PROB_ABSENT=49.8511;PROB_PRESENT=0.0211811;PROB_FFPE_ARTIFACT=29.3058;ANN=A|upstream_gene_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526021.1|retained_intron||n.-1160G>A|||||1160|,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000532059.5|protein_coding|4/5|c.1000+200G>A||||||,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000528712.5|protein_coding|5/6|c.379+200G>A||||||,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526716.5|protein_coding|4/4|c.379+200G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000335135.8|protein_coding|5/6|c.997+200G>A||||||,A|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000622443.2|protein_coding|7/8|c.994+200G>A||||||;known_AA=G;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=288;known_MAF=0.05751;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 4:0.525:1N+1V+1V-1N-:. 8 11757260 rs12156163 C T . . SVLEN=.;PROB_ABSENT=196.128;PROB_FFPE_ARTIFACT=90.84;PROB_PRESENT=8.32357e-07;PROB_ARTIFACT=67.1935;ANN=T|upstream_gene_variant|MODIFIER|C8orf49|ENSG00000255394|transcript|ENST00000525043.4|lincRNA||n.-3996C>T|||||3996|,T|upstream_gene_variant|MODIFIER|C8orf49|ENSG00000255394|transcript|ENST00000625198.1|lincRNA||n.-4127C>T|||||4127|,T|downstream_gene_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526716.5|protein_coding||c.*178C>T|||||178|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000532059.5|protein_coding|5/5|c.1149+177C>T||||||,T|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000528712.5|protein_coding|6/6|c.528+177C>T||||||,T|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526021.1|retained_intron|1/1|n.591+177C>T||||||,T|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000335135.8|protein_coding|6/6|c.1146+177C>T||||||,T|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000622443.2|protein_coding|8/8|c.1143+177C>T||||||;known_AA=C;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=572;known_MAF=0.1142;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 6:1:4V-2V+:. 8 11758186 rs745379 A G . . SVLEN=.;PROB_PRESENT=6.99227;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=0.96846;PROB_ABSENT=61.8196;ANN=G|upstream_gene_variant|MODIFIER|C8orf49|ENSG00000255394|transcript|ENST00000525043.4|lincRNA||n.-3070A>G|||||3070|,G|upstream_gene_variant|MODIFIER|C8orf49|ENSG00000255394|transcript|ENST00000625198.1|lincRNA||n.-3201A>G|||||3201|,G|downstream_gene_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526716.5|protein_coding||c.*1104A>G|||||1104|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000532059.5|protein_coding|5/5|c.1150-107A>G||||||,G|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000528712.5|protein_coding|6/6|c.529-107A>G||||||,G|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000526021.1|retained_intron|1/1|n.592-107A>G||||||,G|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000335135.8|protein_coding|6/6|c.1147-107A>G||||||,G|intron_variant|MODIFIER|GATA4|ENSG00000136574|transcript|ENST00000622443.2|protein_coding|8/8|c.1144-107A>G||||||;known_AA=G;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=1353;known_MAF=0.2702;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 4:0:2V+2N+:+ 8 54625000 rs77775126 C T . . SVLEN=.;PROB_PRESENT=0;PROB_ABSENT=2342.74;PROB_ARTIFACT=1125.24;PROB_FFPE_ARTIFACT=635.484;ANN=T|missense_variant|MODERATE|RP1|ENSG00000104237|transcript|ENST00000220676.1|protein_coding|4/4|c.1118C>T|p.Thr373Ile|1266/7100|1118/6471|373/2156||,T|intron_variant|MODIFIER|RP1|ENSG00000104237|transcript|ENST00000636932.1|protein_coding|3/22|c.787+2712C>T||||||,T|intron_variant|MODIFIER|RP1|ENSG00000104237|transcript|ENST00000637698.1|protein_coding|3/28|c.787+2712C>T||||||;known_AA=C;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=T;known_MAC=51;known_MAF=0.01018;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.086474;dbNSFP_Ensembl_proteinid=ENSP00000220676;dbNSFP_Ensembl_transcriptid=ENST00000220676;dbNSFP_FATHMM_score=1.96;dbNSFP_LRT_score=0.580397;dbNSFP_MPC_score=0.0490915;dbNSFP_MetaLR_score=0.0266;dbNSFP_MetaSVM_score=-1.0318;dbNSFP_MutationAssessor_score=2.34;dbNSFP_MutationTaster_score=2.3734e-09;dbNSFP_PROVEAN_score=-1.9;dbNSFP_Polyphen2_HDIV_score=0.013;dbNSFP_Polyphen2_HVAR_score=0.008;dbNSFP_PrimateAI_score=0.292402;dbNSFP_REVEL_score=0.034;dbNSFP_SIFT4G_score=0.072;dbNSFP_SIFT_score=0.002;dbNSFP_Uniprot_acc=P56715;dbNSFP_Uniprot_entry=RP1_HUMAN;dbNSFP_VEST4_score=0.012 DP:AF:OBS:SB 204:0.451275:63N+49N-47V+44V-1S+:. 8 86667075 rs6471482 A C . . SVLEN=.;PROB_ABSENT=3494.21;PROB_FFPE_ARTIFACT=inf;PROB_ARTIFACT=1679.92;PROB_PRESENT=0;ANN=C|missense_variant|MODERATE|CNGB3|ENSG00000170289|transcript|ENST00000320005.5|protein_coding|6/18|c.702T>G|p.Cys234Trp|750/4347|702/2430|234/809||;known_AA=C;known_CLIN_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=213;known_MAF=0.04253;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.348269;dbNSFP_Ensembl_proteinid=ENSP00000316605;dbNSFP_Ensembl_transcriptid=ENST00000320005;dbNSFP_FATHMM_score=2.98;dbNSFP_LRT_score=0;dbNSFP_MPC_score=0.0316171;dbNSFP_MetaLR_score=0;dbNSFP_MetaSVM_score=-0.9383;dbNSFP_MutationAssessor_score=-3.35;dbNSFP_MutationTaster_score=0.00152526;dbNSFP_PROVEAN_score=12.86;dbNSFP_Polyphen2_HDIV_score=0;dbNSFP_Polyphen2_HVAR_score=0;dbNSFP_PrimateAI_score=0.599528;dbNSFP_REVEL_score=0.142;dbNSFP_SIFT4G_score=1;dbNSFP_SIFT_score=1;dbNSFP_Uniprot_acc=Q9NQW8;dbNSFP_Uniprot_entry=CNGB3_HUMAN;dbNSFP_VEST4_score=0.074 DP:AF:OBS:SB 101:0.990099:55V-46V+:. 9 36219884 rs111302956 G A . . SVLEN=.;PROB_ARTIFACT=1251.21;PROB_FFPE_ARTIFACT=800.337;PROB_ABSENT=2731.85;PROB_PRESENT=0;ANN=A|synonymous_variant|LOW|GNE|ENSG00000159921|transcript|ENST00000396594.7|protein_coding|10/12|c.1863C>T|p.Tyr621Tyr|1975/5298|1863/2262|621/753||,A|synonymous_variant|LOW|GNE|ENSG00000159921|transcript|ENST00000539815.5|protein_coding|9/12|c.1770C>T|p.Tyr590Tyr|1811/3657|1770/2169|590/722||,A|synonymous_variant|LOW|GNE|ENSG00000159921|transcript|ENST00000543356.6|protein_coding|9/11|c.1755C>T|p.Tyr585Tyr|1755/2576|1755/2154|585/717||,A|synonymous_variant|LOW|GNE|ENSG00000159921|transcript|ENST00000377902.5|protein_coding|10/12|c.1770C>T|p.Tyr590Tyr|1991/2565|1770/2169|590/722||,A|synonymous_variant|LOW|GNE|ENSG00000159921|transcript|ENST00000539208.5|protein_coding|8/10|c.1440C>T|p.Tyr480Tyr|1578/2190|1440/1839|480/612||,A|synonymous_variant|LOW|GNE|ENSG00000159921|transcript|ENST00000447283.6|protein_coding|9/11|c.1548C>T|p.Tyr516Tyr|1599/2174|1548/1947|516/648||,A|intron_variant|MODIFIER|CLTA|ENSG00000122705|transcript|ENST00000464497.5|nonsense_mediated_decay|4/7|c.485+15705G>A||||||;known_AA=G;known_CLIN_benign;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=A;known_MAC=34;known_MAF=0.006789;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 183:0.555683:53V+44V-44N+39N-3S+:. 9 97854657 rs538912281 C T . . SVLEN=.;PROB_PRESENT=0.106968;PROB_ARTIFACT=18.7295;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=19.6133;ANN=T|missense_variant|MODERATE|FOXE1|ENSG00000178919|transcript|ENST00000375123.4|protein_coding|1/1|c.743C>T|p.Ala248Val|1404/3462|743/1122|248/373||;known_AA=C;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=2;known_MAF=0.000399;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.153753;dbNSFP_Ensembl_proteinid=ENSP00000364265;dbNSFP_Ensembl_transcriptid=ENST00000375123;dbNSFP_FATHMM_score=-3.31;dbNSFP_LRT_score=0.035078;dbNSFP_M_CAP_score=0.813898;dbNSFP_MVP_score=0.686711;dbNSFP_MetaLR_score=0.5983;dbNSFP_MetaSVM_score=-0.4008;dbNSFP_MutPred_score=0.348;dbNSFP_MutationAssessor_score=0.895;dbNSFP_MutationTaster_score=0.994389;dbNSFP_PROVEAN_score=-1.21;dbNSFP_Polyphen2_HDIV_score=0.037;dbNSFP_Polyphen2_HVAR_score=0.007;dbNSFP_PrimateAI_score=0.814025;dbNSFP_REVEL_score=0.347;dbNSFP_SIFT4G_score=0.403;dbNSFP_SIFT_score=0.035;dbNSFP_Uniprot_acc=O00358;dbNSFP_Uniprot_entry=FOXE1_HUMAN;dbNSFP_VEST4_score=0.202 DP:AF:OBS:SB 40:0.075:19N-19N+1V+1V-:. 9 113391611 rs1800435 C G . . SVLEN=.;PROB_PRESENT=0;PROB_ABSENT=1298.66;PROB_ARTIFACT=502.193;PROB_FFPE_ARTIFACT=inf;ANN=G|missense_variant|MODERATE|ALAD|ENSG00000148218|transcript|ENST00000409155.7|protein_coding|4/12|c.177G>C|p.Lys59Asn|374/3173|177/993|59/330||,G|missense_variant|MODERATE|ALAD|ENSG00000148218|transcript|ENST00000448137.5|protein_coding|5/6|c.204G>C|p.Lys68Asn|378/536|204/362|68/119||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000494848.1|retained_intron||n.*1550G>C|||||1550|,G|downstream_gene_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000452726.1|protein_coding||c.*521G>C|||||521|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000445750.1|protein_coding||c.*1934G>C|||||1934|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000464749.5|retained_intron|2/2|n.258-678G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000482847.5|retained_intron|4/12|n.450G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000482001.1|processed_transcript|2/3|n.450G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|ALAD|ENSG00000148218|transcript|ENST00000468504.5|retained_intron|4/7|n.299G>C||||||;known_AA=G;known_CLIN_likely_benign;known_CLIN_pathogenic;known_E_1000G;known_E_Cited;known_E_ESP;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_TOPMed;known_E_gnomAD;known_MA=G;known_MAC=318;known_MAF=0.0635;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.244935,0.217748;dbNSFP_Ensembl_proteinid=ENSP00000386284,ENSP00000392748;dbNSFP_Ensembl_transcriptid=ENST00000409155,ENST00000448137;dbNSFP_FATHMM_score=-2.14,-2.14;dbNSFP_LRT_score=0;dbNSFP_MPC_score=0.435163,.;dbNSFP_MetaLR_score=0.0147;dbNSFP_MetaSVM_score=-0.9668;dbNSFP_MutationAssessor_score=-1.575,.;dbNSFP_MutationTaster_score=0.999786,0.999965;dbNSFP_PROVEAN_score=4.88,4.9;dbNSFP_Polyphen2_HDIV_score=0,.;dbNSFP_Polyphen2_HVAR_score=0,.;dbNSFP_PrimateAI_score=0.485589;dbNSFP_REVEL_score=0.232;dbNSFP_SIFT4G_score=1,.;dbNSFP_SIFT_score=1,1;dbNSFP_Uniprot_acc=P13716,B7ZBK6;dbNSFP_Uniprot_entry=HEM2_HUMAN,B7ZBK6_HUMAN;dbNSFP_VEST4_score=0.038,. DP:AF:OBS:SB 119:0.401681:43N-30V-28N+18V+:. 9 133647906 rs75215331 C T . . 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SVLEN=.;PROB_PRESENT=0.109303;PROB_ARTIFACT=17.4247;PROB_ABSENT=21.7005;PROB_FFPE_ARTIFACT=inf;ANN=A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000462942.3|nonsense_mediated_decay|13/21|c.1569+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000493484.5|protein_coding|4/4|c.282+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000486164.5|nonsense_mediated_decay|3/6|c.288+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000460843.5|protein_coding|18/26|c.2712+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000482340.5|protein_coding|4/4|c.282+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000488242.2|processed_transcript|2/6|n.238+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000636027.1|protein_coding|18/20|c.2598+1G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000637161.1|protein_coding|18/26|c.2619+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000637261.1|nonsense_mediated_decay|17/23|c.*1918+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000637891.1|nonsense_mediated_decay|6/14|c.606+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_donor_variant&intron_variant|HIGH|EHMT1|ENSG00000181090|transcript|ENST00000637949.1|nonsense_mediated_decay|4/5|c.390+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|EHMT1|ENSG00000181090|transcript|ENST00000637277.1|processed_transcript||n.*2144G>A|||||2144|,A|downstream_gene_variant|MODIFIER|EHMT1|ENSG00000181090|transcript|ENST00000635783.1|processed_transcript||n.*572G>A|||||572|;LOF=(EHMT1|ENSG00000181090|56|0.18);known_AA=G;known_CLIN_likely_pathogenic;known_CLIN_pathogenic;known_E_Cited;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000417980,ENSP00000489961,ENSP00000490328,ENSP00000486503,ENSP00000486748;dbNSFP_Ensembl_transcriptid=ENST00000460843,ENST00000636027,ENST00000637161,ENST00000493484,ENST00000482340;dbNSFP_MutationTaster_score=1;dbNSFP_Uniprot_acc=Q9H9B1,A0A1B0GU48,A0A1B0GV09,A0A0D9SFD7,A0A0D9SFM6;dbNSFP_Uniprot_entry=EHMT1_HUMAN,A0A1B0GU48_HUMAN,A0A1B0GV09_HUMAN,A0A0D9SFD7_HUMAN,A0A0D9SFM6_HUMAN DP:AF:OBS:SB 35:0.0571429:20N-13N+1V+1V-:. X 18510859 rs587783131 G A . . SVLEN=.;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=27.834;PROB_PRESENT=0.0516119;PROB_ARTIFACT=19.928;ANN=A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000379989.6|protein_coding|4/21|c.99+5G>A||||||,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000379996.7|protein_coding|3/20|c.99+5G>A||||||,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000623535.1|protein_coding|2/16|c.99+5G>A||||||,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000623364.3|protein_coding|5/6|c.99+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000624700.3|protein_coding|3/4|c.99+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000463994.4|protein_coding|3/15|c.99+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000635828.1|protein_coding|3/17|c.99+5G>A||||||,A|splice_region_variant&intron_variant|LOW|CDKL5|ENSG00000008086|transcript|ENST00000637881.1|protein_coding|3/11|c.99+5G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDKL5|ENSG00000008086|transcript|ENST00000624953.1|protein_coding||c.*3710G>A|||||3710|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDKL5|ENSG00000008086|transcript|ENST00000636046.1|processed_transcript||n.*3886G>A|||||3886|;known_AA=G;known_CLIN_pathogenic;known_E_Cited;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152 DP:AF:OBS:SB 25:0.08:12N-11N+1V+1V-:. X 53254856 rs267607188 G A . . SVLEN=.;PROB_PRESENT=0.0858933;PROB_ARTIFACT=18.3125;PROB_ABSENT=23.1563;PROB_FFPE_ARTIFACT=inf;ANN=A|missense_variant|MODERATE|IQSEC2|ENSG00000124313|transcript|ENST00000396435.7|protein_coding|4/15|c.1075C>T|p.Arg359Cys|1276/6011|1075/4467|359/1488||,A|missense_variant|MODERATE|IQSEC2|ENSG00000124313|transcript|ENST00000375365.2|protein_coding|4/14|c.460C>T|p.Arg154Cys|553/4004|460/2850|154/949||;known_AA=G;known_CLIN_pathogenic;known_E_Cited;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=.,0.315585,0.315585,.,.;dbNSFP_Ensembl_proteinid=ENSP00000492403,ENSP00000379712,ENSP00000495726,ENSP00000364514,ENSP00000492390;dbNSFP_Ensembl_transcriptid=ENST00000640694,ENST00000396435,ENST00000642864,ENST00000375365,ENST00000638630;dbNSFP_FATHMM_score=.,-1.5,.,-1.5,.;dbNSFP_LRT_score=3e-06;dbNSFP_M_CAP_score=0.417518;dbNSFP_MPC_score=.,2.56847,.,.,.;dbNSFP_MVP_score=.,0.99394,.,0.99394,.;dbNSFP_MetaLR_score=0.6393;dbNSFP_MetaSVM_score=0.3867;dbNSFP_MutPred_score=0.567;dbNSFP_MutationTaster_score=1,1,1;dbNSFP_PROVEAN_score=.,-7.17,.,-7.09,.;dbNSFP_Polyphen2_HDIV_score=.,.,.,1,.;dbNSFP_Polyphen2_HVAR_score=.,.,.,0.997,.;dbNSFP_PrimateAI_score=0.870871;dbNSFP_REVEL_score=0.899;dbNSFP_SIFT4G_score=.,0,.,0,.;dbNSFP_SIFT_score=.,0,.,0,.;dbNSFP_Uniprot_acc=A0A1W2PR28,Q5JU85,Q5JU85,Q5JU85-3,A0A1W2PR18;dbNSFP_Uniprot_entry=A0A1W2PR28_HUMAN,IQEC2_HUMAN,IQEC2_HUMAN,IQEC2_HUMAN,A0A1W2PR18_HUMAN;dbNSFP_VEST4_score=.,0.679,.,0.791,. DP:AF:OBS:SB 39:0.0512821:26N-11N+1V+1V-:. X 120626774 rs17261572 A T . . 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X 149498301 rs104894860 G A . . SVLEN=.;PROB_PRESENT=0.0549738;PROB_FFPE_ARTIFACT=inf;PROB_ABSENT=26.9527;PROB_ARTIFACT=19.7628;ANN=A|stop_gained|HIGH|IDS|ENSG00000010404|transcript|ENST00000340855.10|protein_coding|5/9|c.514C>T|p.Arg172*|724/7619|514/1653|172/550||,A|stop_gained|HIGH|IDS|ENSG00000010404|transcript|ENST00000370441.8|protein_coding|5/8|c.514C>T|p.Arg172*|724/1399|514/1032|172/343||,A|stop_gained|HIGH|IDS|ENSG00000010404|transcript|ENST00000466323.5|nonsense_mediated_decay|5/9|c.514C>T|p.Arg172*|724/1529|514/939|172/312||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|AF011889.5|ENSG00000241489|transcript|ENST00000422081.6|protein_coding|5/9|c.-120C>T||||||,A|5_prime_UTR_variant|MODIFIER|AF011889.5|ENSG00000241489|transcript|ENST00000422081.6|protein_coding|5/9|c.-120C>T|||||120|,A|3_prime_UTR_variant|MODIFIER|IDS|ENSG00000010404|transcript|ENST00000464251.5|nonsense_mediated_decay|5/8|c.*119C>T|||||3797|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|IDS|ENSG00000010404|transcript|ENST00000466019.1|processed_transcript||n.-35C>T|||||35|,A|downstream_gene_variant|MODIFIER|IDS|ENSG00000010404|transcript|ENST00000428056.6|protein_coding||c.*4889C>T|||||4359|,A|downstream_gene_variant|MODIFIER|AF011889.5|ENSG00000241489|transcript|ENST00000427113.2|processed_transcript||n.*3786C>T|||||3786|,A|intron_variant|MODIFIER|AF011889.5|ENSG00000241489|transcript|ENST00000441880.1|processed_transcript|1/2|n.114-11203C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|IDS|ENSG00000010404|transcript|ENST00000490775.5|processed_transcript|4/7|n.299C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|AF011889.5|ENSG00000241489|transcript|ENST00000523759.5|processed_transcript|6/6|n.628C>T||||||;LOF=(IDS|ENSG00000010404|8|0.38);NMD=(IDS|ENSG00000010404|8|0.38);known_AA=G;known_CLIN_pathogenic;known_E_Cited;known_E_ExAC;known_E_Freq;known_E_Phenotype_or_Disease;known_E_gnomAD;known_TSA=SNV;known_dbSNP_152;dbNSFP_Ensembl_proteinid=ENSP00000339801,ENSP00000359470;dbNSFP_Ensembl_transcriptid=ENST00000340855,ENST00000370441;dbNSFP_LRT_score=0.000351;dbNSFP_MutationTaster_score=1,1,1,1;dbNSFP_Uniprot_acc=P22304,P22304-2;dbNSFP_Uniprot_entry=IDS_HUMAN,IDS_HUMAN;dbNSFP_VEST4_score=0.927,0.906 DP:AF:OBS:SB 29:0.0689655:19N-8N+1V-1V+:. X 154969417 rs137852404 G A . . SVLEN=.;PROB_ABSENT=55.2163;PROB_ARTIFACT=32.3656;PROB_FFPE_ARTIFACT=6.30124;PROB_PRESENT=1.16304;ANN=A|missense_variant|MODERATE|F8|ENSG00000185010|transcript|ENST00000360256.8|protein_coding|7/26|c.923C>T|p.Ser308Leu|1124/9059|923/7056|308/2351||,A|upstream_gene_variant|MODIFIER|F8|ENSG00000185010|transcript|ENST00000483822.2|processed_transcript||n.-2901C>T|||||2901|;known_AA=G;known_CLIN_pathogenic;known_E_Cited;known_E_Phenotype_or_Disease;known_TSA=SNV;known_dbSNP_152;dbNSFP_DEOGEN2_score=0.857145;dbNSFP_Ensembl_proteinid=ENSP00000353393;dbNSFP_Ensembl_transcriptid=ENST00000360256;dbNSFP_FATHMM_score=-6.56;dbNSFP_LRT_score=8.9e-05;dbNSFP_M_CAP_score=0.742896;dbNSFP_MPC_score=1.56886;dbNSFP_MVP_score=0.994745;dbNSFP_MetaLR_score=0.978;dbNSFP_MetaSVM_score=1.1519;dbNSFP_MutPred_score=0.812;dbNSFP_MutationAssessor_score=1.435;dbNSFP_MutationTaster_score=0.972052;dbNSFP_PROVEAN_score=-2.69;dbNSFP_Polyphen2_HDIV_score=1;dbNSFP_Polyphen2_HVAR_score=0.999;dbNSFP_PrimateAI_score=0.599692;dbNSFP_REVEL_score=0.8;dbNSFP_SIFT4G_score=0.003;dbNSFP_SIFT_score=0.65;dbNSFP_Uniprot_acc=P00451;dbNSFP_Uniprot_entry=FA8_HUMAN;dbNSFP_VEST4_score=0.848 DP:AF:OBS:SB 73:0.0547945:40N+29N-2V+2V-:.