1	979496	.	T	C	.	.	CSQ=C|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|3/5||ENST00000341290.6:c.1192A>G|ENSP00000343864.2:p.Ser398Gly|1228|1192|398|S/G|Agc/Ggc|rs13302983||-1||SNV|HGNC|HGNC:28208|||2|A2||ENSP00000343864|Q5SV97||||tolerated(0.2)|benign(0.003)|PANTHER:PTHR47282&MobiDB_lite:mobidb-lite||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13302983|4488|1||SNV|HGNC|HGNC:25284|||1|A2|CCDS53256.1|ENSP00000368717|Q494U1||||||||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13302983|4488|1||SNV|HGNC|HGNC:25284|||2|A2||ENSP00000368719|Q494U1||||||||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13302983|3631|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3|1|P3|CCDS4.1|ENSP00000368720|Q494U1||UPI00001416D8||||||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1,C|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|1/3||ENST00000433179.3:c.1534A>G|ENSP00000414022.3:p.Ser512Gly|1534|1534|512|S/G|Agc/Ggc|rs13302983||-1||SNV|HGNC|HGNC:28208|YES||5|P2|CCDS76083.1|ENSP00000414022|Q5SV97||||tolerated(0.18)|benign(0.011)|PANTHER:PTHR47282&MobiDB_lite:mobidb-lite||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1,C|upstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs13302983|2855|-1||SNV|HGNC|HGNC:28208|||1||||||||||||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs13302983|3631|1|cds_start_NF|SNV|HGNC|HGNC:25284|||3|||ENSP00000462558||J3KSM5|UPI000268AE1F||||||||0.9418|0.9539|0.999|0.9592|0.9847|||0.9721|0.9533|0.9754|0.9166|0.9999|0.9923|0.9677|0.9536|0.9811|0.9999|gnomAD_EAS|||||||||||||||||||-27|-2|23|25|0.00|0.00|0.00|0.00|PERM1;Allele=C;Consequence=missense_variant;IMPACT=MODERATE;SYMBOL=PERM1;Gene=ENSG00000187642;Feature_type=Transcript;Feature=ENST00000341290;BIOTYPE=protein_coding;EXON=3/5;INTRON=.;HGVSc=ENST00000341290.6:c.1192A>G;HGVSp=ENSP00000343864.2:p.Ser398Gly;cDNA_position=1228;CDS_position=1192;Protein_position=398;Amino_acids=S/G;Codons=Agc/Ggc;Existing_variation=rs13302983;DISTANCE=.;STRAND=-1;FLAGS=.;VARIANT_CLASS=SNV;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28208;CANONICAL=.;MANE=.;TSL=2;APPRIS=A2;CCDS=.;ENSP=ENSP00000343864;SWISSPROT=Q5SV97;TREMBL=.;UNIPARC=.;GENE_PHENO=.;SIFT=tolerated(0.2);PolyPhen=benign(0.003);DOMAINS=PANTHER:PTHR47282&MobiDB_lite:mobidb-lite;miRNA=.;HGVS_OFFSET=.;AF=.;AFR_AF=0.9418;AMR_AF=0.9539;EAS_AF=0.999;EUR_AF=0.9592;SAS_AF=0.9847;AA_AF=.;EA_AF=.;gnomAD_AF=0.9721;gnomAD_AFR_AF=0.9533;gnomAD_AMR_AF=0.9754;gnomAD_ASJ_AF=0.9166;gnomAD_EAS_AF=0.9999;gnomAD_FIN_AF=0.9923;gnomAD_NFE_AF=0.9677;gnomAD_OTH_AF=0.9536;gnomAD_SAS_AF=0.9811;MAX_AF=0.9999;MAX_AF_POPS=gnomAD_EAS;CLIN_SIG=.;SOMATIC=.;PHENO=.;PUBMED=.;MOTIF_NAME=.;MOTIF_POS=.;HIGH_INF_POS=.;MOTIF_SCORE_CHANGE=.;existing_InFrame_oORFs=.;existing_OutOfFrame_oORFs=.;existing_uORFs=.;five_prime_UTR_variant_annotation=.;five_prime_UTR_variant_consequence=.;SpliceRegion=.;LoF=.;LoF_filter=.;LoF_flags=.;LoF_info=.;SpliceAI_pred_DP_AG=-27;SpliceAI_pred_DP_AL=-2;SpliceAI_pred_DP_DG=23;SpliceAI_pred_DP_DL=25;SpliceAI_pred_DS_AG=0;SpliceAI_pred_DS_AL=0;SpliceAI_pred_DS_DG=0;SpliceAI_pred_DS_DL=0;SpliceAI_pred_SYMBOL=PERM1
1	979560	.	T	C	.	.	CSQ=C|synonymous_variant|LOW|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|3/5||ENST00000341290.6:c.1128A>G|ENSP00000343864.2:p.Ala376%3D|1164|1128|376|A|gcA/gcG|rs13303033||-1||SNV|HGNC|HGNC:28208|||2|A2||ENSP00000343864|Q5SV97||||||PANTHER:PTHR47282&Low_complexity_(Seg):seg|||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303033|4552|1||SNV|HGNC|HGNC:25284|||1|A2|CCDS53256.1|ENSP00000368717|Q494U1|||||||||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303033|4552|1||SNV|HGNC|HGNC:25284|||2|A2||ENSP00000368719|Q494U1|||||||||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303033|3695|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3|1|P3|CCDS4.1|ENSP00000368720|Q494U1||UPI00001416D8|||||||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1,C|synonymous_variant|LOW|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|1/3||ENST00000433179.3:c.1470A>G|ENSP00000414022.3:p.Ala490%3D|1470|1470|490|A|gcA/gcG|rs13303033||-1||SNV|HGNC|HGNC:28208|YES||5|P2|CCDS76083.1|ENSP00000414022|Q5SV97||||||PANTHER:PTHR47282&Low_complexity_(Seg):seg|||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1,C|upstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs13303033|2919|-1||SNV|HGNC|HGNC:28208|||1|||||||||||||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs13303033|3695|1|cds_start_NF|SNV|HGNC|HGNC:25284|||3|||ENSP00000462558||J3KSM5|UPI000268AE1F|||||||0.5096|0.177|0.6095|0.7123|0.5895|0.5971|||0.5887|0.2428|0.6604|0.5617|0.7237|0.5334|0.5801|0.5647|0.6213|0.7237|gnomAD_EAS|||||||||||||||||||28|-30|-39|3|0.00|0.00|0.00|0.00|PERM1;Allele=C;Consequence=synonymous_variant;IMPACT=LOW;SYMBOL=PERM1;Gene=ENSG00000187642;Feature_type=Transcript;Feature=ENST00000341290;BIOTYPE=protein_coding;EXON=3/5;INTRON=.;HGVSc=ENST00000341290.6:c.1128A>G;HGVSp=ENSP00000343864.2:p.Ala376%3D;cDNA_position=1164;CDS_position=1128;Protein_position=376;Amino_acids=A;Codons=gcA/gcG;Existing_variation=rs13303033;DISTANCE=.;STRAND=-1;FLAGS=.;VARIANT_CLASS=SNV;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28208;CANONICAL=.;MANE=.;TSL=2;APPRIS=A2;CCDS=.;ENSP=ENSP00000343864;SWISSPROT=Q5SV97;TREMBL=.;UNIPARC=.;GENE_PHENO=.;SIFT=.;PolyPhen=.;DOMAINS=PANTHER:PTHR47282&Low_complexity_(Seg):seg;miRNA=.;HGVS_OFFSET=.;AF=0.5096;AFR_AF=0.177;AMR_AF=0.6095;EAS_AF=0.7123;EUR_AF=0.5895;SAS_AF=0.5971;AA_AF=.;EA_AF=.;gnomAD_AF=0.5887;gnomAD_AFR_AF=0.2428;gnomAD_AMR_AF=0.6604;gnomAD_ASJ_AF=0.5617;gnomAD_EAS_AF=0.7237;gnomAD_FIN_AF=0.5334;gnomAD_NFE_AF=0.5801;gnomAD_OTH_AF=0.5647;gnomAD_SAS_AF=0.6213;MAX_AF=0.7237;MAX_AF_POPS=gnomAD_EAS;CLIN_SIG=.;SOMATIC=.;PHENO=.;PUBMED=.;MOTIF_NAME=.;MOTIF_POS=.;HIGH_INF_POS=.;MOTIF_SCORE_CHANGE=.;existing_InFrame_oORFs=.;existing_OutOfFrame_oORFs=.;existing_uORFs=.;five_prime_UTR_variant_annotation=.;five_prime_UTR_variant_consequence=.;SpliceRegion=.;LoF=.;LoF_filter=.;LoF_flags=.;LoF_info=.;SpliceAI_pred_DP_AG=28;SpliceAI_pred_DP_AL=-30;SpliceAI_pred_DP_DG=-39;SpliceAI_pred_DP_DL=3;SpliceAI_pred_DS_AG=0;SpliceAI_pred_DS_AL=0;SpliceAI_pred_DS_DG=0;SpliceAI_pred_DS_DL=0;SpliceAI_pred_SYMBOL=PERM1
1	999842	.	C	A	.	.	CSQ=A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||1/3|ENST00000304952.11:c.108+24G>T|||||||rs2298214||-1||SNV|HGNC|HGNC:24149||NM_021170.4|1|P1|CCDS5.1|ENSP00000304595|Q9HCC6|||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.132G>T|ENSP00000393198.2:p.Arg44Ser|331|132|44|R/S|agG/agT|rs2298214||-1||SNV|HGNC|HGNC:24149|YES||2||CCDS44034.1|ENSP00000393198||E9PB28|UPI0001881B51||tolerated_low_confidence(0.72)|benign(0)|MobiDB_lite:mobidb-lite&Low_complexity_(Seg):seg|||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS||||||||||||||||||MUTANT_DONOR_MES:11.0784944978449&EXON_END:1000172&INTRON_END:999691&DE_NOVO_DONOR_MES_POS:-156&DE_NOVO_DONOR_POS:-156&EXON_START:999692&DE_NOVO_DONOR_MES:7.0006176073036&DE_NOVO_DONOR_PROB:0.167156964545091&INTRON_START:999614|6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.255G>T||255|||||rs2298214||-1||SNV|HGNC|HGNC:24149|||2|||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||1/2|ENST00000484667.2:c.108+24G>T|||||||rs2298214||-1||SNV|HGNC|HGNC:24149|||3|||ENSP00000425085||D6REB3|UPI0001D3BBEE|||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|upstream_gene_variant|MODIFIER|AL645608.7|ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs2298214|1791|-1||SNV|Clone_based_ensembl_gene||YES|||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2298214|1303|1|cds_end_NF|SNV|HGNC|HGNC:4053|||3|||ENSP00000485313||A0A096LNZ9||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2298214|1296|1||SNV|HGNC|HGNC:4053|||3|A2||ENSP00000485643||A0A096LPJ4||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||6|-37|6|24|0.00|0.00|0.01|0.02|HES4,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs2298214||||SNV||||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.1386|0.5695|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.786|gnomAD_EAS|||||||||||||||||||||||||||;Allele=A;Consequence=missense_variant;IMPACT=MODERATE;SYMBOL=HES4;Gene=ENSG00000188290;Feature_type=Transcript;Feature=ENST00000428771;BIOTYPE=protein_coding;EXON=1/3;INTRON=.;HGVSc=ENST00000428771.6:c.132G>T;HGVSp=ENSP00000393198.2:p.Arg44Ser;cDNA_position=331;CDS_position=132;Protein_position=44;Amino_acids=R/S;Codons=agG/agT;Existing_variation=rs2298214;DISTANCE=.;STRAND=-1;FLAGS=.;VARIANT_CLASS=SNV;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24149;CANONICAL=YES;MANE=.;TSL=2;APPRIS=.;CCDS=CCDS44034.1;ENSP=ENSP00000393198;SWISSPROT=.;TREMBL=E9PB28;UNIPARC=UPI0001881B51;GENE_PHENO=.;SIFT=tolerated_low_confidence(0.72);PolyPhen=benign(0);DOMAINS=MobiDB_lite:mobidb-lite&Low_complexity_(Seg):seg;miRNA=.;HGVS_OFFSET=.;AF=0.4938;AFR_AF=0.0356;AMR_AF=0.6268;EAS_AF=0.7718;EUR_AF=0.5895;SAS_AF=0.6339;AA_AF=0.1386;EA_AF=0.5695;gnomAD_AF=0.6136;gnomAD_AFR_AF=0.1208;gnomAD_AMR_AF=0.7139;gnomAD_ASJ_AF=0.6344;gnomAD_EAS_AF=0.786;gnomAD_FIN_AF=0.5555;gnomAD_NFE_AF=0.595;gnomAD_OTH_AF=0.5882;gnomAD_SAS_AF=0.6625;MAX_AF=0.786;MAX_AF_POPS=gnomAD_EAS;CLIN_SIG=.;SOMATIC=.;PHENO=.;PUBMED=.;MOTIF_NAME=.;MOTIF_POS=.;HIGH_INF_POS=.;MOTIF_SCORE_CHANGE=.;existing_InFrame_oORFs=.;existing_OutOfFrame_oORFs=.;existing_uORFs=.;five_prime_UTR_variant_annotation=.;five_prime_UTR_variant_consequence=.;SpliceRegion=.;LoF=.;LoF_filter=.;LoF_flags=.;LoF_info=MUTANT_DONOR_MES:11.0784944978449&EXON_END:1000172&INTRON_END:999691&DE_NOVO_DONOR_MES_POS:-156&DE_NOVO_DONOR_POS:-156&EXON_START:999692&DE_NOVO_DONOR_MES:7.0006176073036&DE_NOVO_DONOR_PROB:0.167156964545091&INTRON_START:999614;SpliceAI_pred_DP_AG=6;SpliceAI_pred_DP_AL=-37;SpliceAI_pred_DP_DG=6;SpliceAI_pred_DP_DL=24;SpliceAI_pred_DS_AG=0;SpliceAI_pred_DS_AL=0;SpliceAI_pred_DS_DG=0.01;SpliceAI_pred_DS_DL=0.02;SpliceAI_pred_SYMBOL=HES4
1	12716215	.	C	A	.	.	CSQ=A|stop_gained|HIGH|AADACL3|ENSG00000188984|Transcript|ENST00000359318|protein_coding|1/4||ENST00000359318.8:c.39C>A|ENSP00000352268.6:p.Cys13Ter|106|39|13|C/*|tgC/tgA|rs3000860||1||SNV|HGNC|HGNC:32037|YES|NM_001103170.3|3|P1|CCDS41253.2|ENSP00000352268|Q5VUY0||UPI0003EAEC70||||PIRSF:PIRSF037251&PANTHER:PTHR23024&PANTHER:PTHR23024:SF115&Transmembrane_helices:TMhelix|||0.1436|0.1188|0.1052|0.2679|0.1362|0.0838||||||||||||0.2679|EAS|||||||||||||||HC|||GERP_DIST:92.57575&BP_DIST:1182&PERCENTILE:0.0318627450980392&DIST_FROM_LAST_EXON:408&50_BP_RULE:PASS&PHYLOCSF_TOO_SHORT|||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AADACL3|ENSG00000188984|Transcript|ENST00000620146|processed_transcript|1/3||ENST00000620146.2:n.101C>A||101|||||rs3000860||1||SNV|HGNC|HGNC:32037|||2|||||||||||||0.1436|0.1188|0.1052|0.2679|0.1362|0.0838||||||||||||0.2679|EAS|||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000347677|promoter_flanking_region||||||||||rs3000860||||SNV||||||||||||||||||0.1436|0.1188|0.1052|0.2679|0.1362|0.0838||||||||||||0.2679|EAS|||||||||||||||||||||||||||;Allele=A;Consequence=stop_gained;IMPACT=HIGH;SYMBOL=AADACL3;Gene=ENSG00000188984;Feature_type=Transcript;Feature=ENST00000359318;BIOTYPE=protein_coding;EXON=1/4;INTRON=.;HGVSc=ENST00000359318.8:c.39C>A;HGVSp=ENSP00000352268.6:p.Cys13Ter;cDNA_position=106;CDS_position=39;Protein_position=13;Amino_acids=C/*;Codons=tgC/tgA;Existing_variation=rs3000860;DISTANCE=.;STRAND=1;FLAGS=.;VARIANT_CLASS=SNV;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:32037;CANONICAL=YES;MANE=NM_001103170.3;TSL=3;APPRIS=P1;CCDS=CCDS41253.2;ENSP=ENSP00000352268;SWISSPROT=Q5VUY0;TREMBL=.;UNIPARC=UPI0003EAEC70;GENE_PHENO=.;SIFT=.;PolyPhen=.;DOMAINS=PIRSF:PIRSF037251&PANTHER:PTHR23024&PANTHER:PTHR23024:SF115&Transmembrane_helices:TMhelix;miRNA=.;HGVS_OFFSET=.;AF=0.1436;AFR_AF=0.1188;AMR_AF=0.1052;EAS_AF=0.2679;EUR_AF=0.1362;SAS_AF=0.0838;AA_AF=.;EA_AF=.;gnomAD_AF=.;gnomAD_AFR_AF=.;gnomAD_AMR_AF=.;gnomAD_ASJ_AF=.;gnomAD_EAS_AF=.;gnomAD_FIN_AF=.;gnomAD_NFE_AF=.;gnomAD_OTH_AF=.;gnomAD_SAS_AF=.;MAX_AF=0.2679;MAX_AF_POPS=EAS;CLIN_SIG=.;SOMATIC=.;PHENO=.;PUBMED=.;MOTIF_NAME=.;MOTIF_POS=.;HIGH_INF_POS=.;MOTIF_SCORE_CHANGE=.;existing_InFrame_oORFs=.;existing_OutOfFrame_oORFs=.;existing_uORFs=.;five_prime_UTR_variant_annotation=.;five_prime_UTR_variant_consequence=.;SpliceRegion=.;LoF=HC;LoF_filter=.;LoF_flags=.;LoF_info=GERP_DIST:92.57575&BP_DIST:1182&PERCENTILE:0.0318627450980392&DIST_FROM_LAST_EXON:408&50_BP_RULE:PASS&PHYLOCSF_TOO_SHORT;SpliceAI_pred_DP_AG=.;SpliceAI_pred_DP_AL=.;SpliceAI_pred_DP_DG=.;SpliceAI_pred_DP_DL=.;SpliceAI_pred_DS_AG=.;SpliceAI_pred_DS_AL=.;SpliceAI_pred_DS_DG=.;SpliceAI_pred_DS_DL=.;SpliceAI_pred_SYMBOL=.