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clinvar_266.vcf
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##fileformat=VCFv4.1
##VEP=""v105"" time=""2022-02-25 14:02:35"" cache=""/net/isilonP/public/ro/ensweb-data/latest/tools/grch37/e105/vep/cache/homo_sapiens_refseq/105_GRCh37"" db=""homo_sapiens_core_105_37@hh-mysql-ens-grch37-web"" 1000genomes=""phase3"" COSMIC=""92"" ClinVar=""202012"" HGMD-PUBLIC=""20204"" assembly=""GRCh37.p13"" dbSNP=""154"" gencode=""GENCODE 19"" genebuild=""2011-04"" gnomAD=""r2.1"" polyphen=""2.2.2"" refseq=""2020-10-26 17:03:42 - GCF_000001405.25_GRCh37.p13_genomic.gff"" regbuild=""1.0"" sift=""sift5.2.2"" "
##INFO=<ID=CSQ,Number=.,Type=String,Description=""Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|FLAGS|SYMBOL_SOURCE|HGNC_ID|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|REFSEQ_MATCH|REFSEQ_OFFSET|GIVEN_REF|USED_REF|BAM_EDIT|SIFT|PolyPhen|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|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS"">
#CHROM POS ID REF ALT QUAL FILTER INFO
14 24709507 NM_001099274.3:c.1090dup A AG . . CSQ=G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|7/9||||1381-1382|1090-1091|364|L/PX|ctg/cCtg|rs1566366182||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|6/8||||1276-1277|985-986|329|L/PX|ctg/cCtg|rs1566366182||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|3_prime_UTR_variant|MODIFIER|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1520-1521|||||rs1566366182||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs1566366182|1059|1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs1566366182|||||||||||||||||||||||||||pathogenic||1||||||
14 24709793 NM_001099274.3:c.892del TG T . . CSQ=-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1183|892|298|Q/X|Cag/ag|rs199422320&CD084945||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1078|787|263|Q/X|Cag/ag|rs199422320&CD084945||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1234|892|298|Q/X|Cag/ag|rs199422320&CD084945||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422320&CD084945|1346|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422320&CD084945|||||||||||||||||||||||||||pathogenic||1&1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422320&CD084945|||||||||||||||||||||||||||pathogenic||1&1|20301779|||||
14 24709815 NM_001099274.3:c.871A>G T C . . CSQ=C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1162|871|291|R/G|Agg/Ggg|rs199422319&CM085748||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1057|766|256|R/G|Agg/Ggg|rs199422319&CM085748||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||||1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1213|871|291|R/G|Agg/Ggg|rs199422319&CM085748||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422319&CM085748|1367|1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422319&CM085748|||||||||||||||||||||||||||||1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422319&CM085748|||||||||||||||||||||||||||||1&1|20301779|||||
14 24709820 NM_001099274.3:c.865_866delinsAG GG CT . . CSQ=CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1156-1157|865-866|289|P/S|CCc/AGc|rs199422318||-1||EntrezGene||||||||CC|CC||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1051-1052|760-761|254|P/S|CCc/AGc|rs199422318||-1||EntrezGene||||||||CC|CC||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||||1|20301779|||||,CT|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1207-1208|865-866|289|P/S|CCc/AGc|rs199422318||-1||EntrezGene||||||||CC|CC||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422318|1372|1||EntrezGene||||||||CC|CC||||||||||||||||1|20301779|||||,CT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422318|||||||||||||||||||||||||||||1|20301779|||||,CT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422318|||||||||||||||||||||||||||||1|20301779|||||
14 24709824 NM_001099274.3:c.862T>C A G . . CSQ=G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1153|862|288|F/L|Ttt/Ctt|rs199422317&CM092745||-1||EntrezGene||||||||T|T||tolerated_low_confidence(0.35)|benign(0.003)|||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1048|757|253|F/L|Ttt/Ctt|rs199422317&CM092745||-1||EntrezGene||||||||T|T||tolerated_low_confidence(0.36)|benign(0.003)|||||||||||||1&1|20301779|||||,G|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1204|862|288|F/L|Ttt/Ctt|rs199422317&CM092745||-1||EntrezGene||||||||T|T||tolerated_low_confidence(0.36)|benign(0.003)|||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422317&CM092745|1376|1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422317&CM092745|||||||||||||||||||||||||||||1&1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422317&CM092745|||||||||||||||||||||||||||||1&1|20301779|||||
14 24709836 NM_001099274.3:c.849dup T TG . . CSQ=G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1140-1141|849-850|283-284|-/X|-/C|rs199422315||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1035-1036|744-745|248-249|-/X|-/C|rs199422315||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1191-1192|849-850|283-284|-/X|-/C|rs199422315||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422315|1388|1||EntrezGene|||||||||||||||||||||||pathogenic||1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422315|||||||||||||||||||||||||||pathogenic||1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422315|||||||||||||||||||||||||||pathogenic||1|20301779|||||
14 24709836 NM_001099274.3:c.850A>G T C . . CSQ=C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1141|850|284|T/A|Aca/Gca|rs199422314&CM085739&CM171546||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0.01)|probably_damaging(0.996)|||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1036|745|249|T/A|Aca/Gca|rs199422314&CM085739&CM171546||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0.01)|probably_damaging(0.996)|||||||||||||1&1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1192|850|284|T/A|Aca/Gca|rs199422314&CM085739&CM171546||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0.02)|probably_damaging(0.996)|||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422314&CM085739&CM171546|1388|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422314&CM085739&CM171546|||||||||||||||||||||||||||||1&1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422314&CM085739&CM171546|||||||||||||||||||||||||||||1&1&1|20301779|||||
14 24709838 NM_001099274.3:c.848C>A G T . . CSQ=T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1139|848|283|P/H|cCc/cAc|rs199422313&CM085740&COSV99945631||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.999)||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1034|743|248|P/H|cCc/cAc|rs199422313&CM085740&COSV99945631||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.999)||||||||||||0&0&1|1&1&1|20301779|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1190|848|283|P/H|cCc/cAc|rs199422313&CM085740&COSV99945631||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.999)||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422313&CM085740&COSV99945631|1390|1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422313&CM085740&COSV99945631||||||||||||||||||||||||||||0&0&1|1&1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422313&CM085740&COSV99945631||||||||||||||||||||||||||||0&0&1|1&1&1|20301779|||||
14 24709839 NM_001099274.3:c.847C>G G C . . CSQ=C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1138|847|283|P/A|Ccc/Gcc|rs199422311&CM085741&CM085742||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.998)|||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1033|742|248|P/A|Ccc/Gcc|rs199422311&CM085741&CM085742||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.998)|||||||||||||1&1&1|20301779|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1189|847|283|P/A|Ccc/Gcc|rs199422311&CM085741&CM085742||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.998)|||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422311&CM085741&CM085742|||||||||||||||||||||||||||||1&1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422311&CM085741&CM085742|||||||||||||||||||||||||||||1&1&1|20301779|||||
14 24709839 NM_001099274.3:c.847C>T G A . . CSQ=A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1138|847|283|P/S|Ccc/Tcc|rs199422311&CM085741&CM085742||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1033|742|248|P/S|Ccc/Tcc|rs199422311&CM085741&CM085742||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||||1&1&1|20301779|||||,A|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1189|847|283|P/S|Ccc/Tcc|rs199422311&CM085741&CM085742||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs199422311&CM085741&CM085742|1391|1||EntrezGene||||||||C|C||||||||||||||||1&1&1|20301779|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs199422311&CM085741&CM085742|||||||||||||||||||||||||||||1&1&1|20301779|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs199422311&CM085741&CM085742|||||||||||||||||||||||||||||1&1&1|20301779|||||
14 24709841 NM_001099274.3:c.845G>A C T . . CSQ=T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1136|845|282|R/H|cGc/cAc|rs121918544&CM080574&CM159757&COSV104566597||-1||EntrezGene||||||||G|G||deleterious_low_confidence(0.03)|benign(0.147)||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1031|740|247|R/H|cGc/cAc|rs121918544&CM080574&CM159757&COSV104566597||-1||EntrezGene||||||||G|G||deleterious_low_confidence(0.03)|benign(0.147)||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1187|845|282|R/H|cGc/cAc|rs121918544&CM080574&CM159757&COSV104566597||-1||EntrezGene||||||||G|G||deleterious_low_confidence(0.02)|benign(0.147)||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs121918544&CM080574&CM159757&COSV104566597|1393|1||EntrezGene||||||||G|G|||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs121918544&CM080574&CM159757&COSV104566597||||||||||||||||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs121918544&CM080574&CM159757&COSV104566597||||||||||||||||||||||||||||0&0&0&1|1&1&1&1|25741868&18252230&21199492&21477109&21536674&18979121|||||
14 24709842 NM_001099274.3:c.844C>A G T . . CSQ=T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1135|844|282|R/S|Cgc/Agc|rs121918545&CM080575&CM085745&CM1511714||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.917)|||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1030|739|247|R/S|Cgc/Agc|rs121918545&CM080575&CM085745&CM1511714||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.917)|||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1186|844|282|R/S|Cgc/Agc|rs121918545&CM080575&CM085745&CM1511714||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.917)|||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs121918545&CM080575&CM085745&CM1511714|||||||||||||||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs121918545&CM080575&CM085745&CM1511714|||||||||||||||||||||||||||pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||
14 24709842 NM_001099274.3:c.844C>T G A . . CSQ=A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1135|844|282|R/C|Cgc/Tgc|rs121918545&CM080575&CM085745&CM1511714||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0.02)|probably_damaging(0.963)||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1030|739|247|R/C|Cgc/Tgc|rs121918545&CM080575&CM085745&CM1511714||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0.02)|probably_damaging(0.963)||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1186|844|282|R/C|Cgc/Tgc|rs121918545&CM080575&CM085745&CM1511714||-1||EntrezGene||||||||C|C||deleterious_low_confidence(0.03)|probably_damaging(0.963)||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs121918545&CM080575&CM085745&CM1511714|1394|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs121918545&CM080575&CM085745&CM1511714||||||||||||||||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs121918545&CM080575&CM085745&CM1511714||||||||||||||||||0|0|0|0|0|0|0|0|0|pathogenic||1&1&1&1|20301779&18252230&21536674&18669893|||||
14 24709846 NM_001099274.3:c.839del CT C . . CSQ=-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1130|839|280|K/X|aAg/ag|rs1594551449&CD113550||-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1025|734|245|K/X|aAg/ag|rs1594551449&CD113550||-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1181|839|280|K/X|aAg/ag|rs1594551449&CD113550||-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs1594551449&CD113550|1399|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21477109|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs1594551449&CD113550|||||||||||||||||||||||||||pathogenic||1&1|21477109|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs1594551449&CD113550|||||||||||||||||||||||||||pathogenic||1&1|21477109|||||
14 24709848 NM_001099274.3:c.838A>G T C . . CSQ=C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1129|838|280|K/E|Aag/Gag|rs121918543&CM080576&CM085747||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1024|733|245|K/E|Aag/Gag|rs121918543&CM080576&CM085747||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||||1&1&1|20301779&18252230&21536674|||||,C|missense_variant|MODERATE|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1180|838|280|K/E|Aag/Gag|rs121918543&CM080576&CM085747||-1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs121918543&CM080576&CM085747|||||||||||||||||||||||||||||1&1&1|20301779&18252230&21536674|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs121918543&CM080576&CM085747|||||||||||||||||||||||||||||1&1&1|20301779&18252230&21536674|||||
14 24709848 NM_001099274.3:c.838A>T T A . . CSQ=A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1129|838|280|K/*|Aag/Tag|rs121918543&CM080576&CM085747||-1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1024|733|245|K/*|Aag/Tag|rs121918543&CM080576&CM085747||-1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1180|838|280|K/*|Aag/Tag|rs121918543&CM080576&CM085747||-1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs121918543&CM080576&CM085747|1400|1||EntrezGene||||||||A|A||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs121918543&CM080576&CM085747|||||||||||||||||||||||||||||1&1&1|20301779&18252230&21536674|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs121918543&CM080576&CM085747|||||||||||||||||||||||||||||1&1&1|20301779&18252230&21536674|||||
14 24709859 NM_001099274.3:c.826del CT C . . CSQ=-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1117|826|276|R/X|Agg/gg|rs863223324&CD109728||-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||1012|721|241|R/X|Agg/gg|rs863223324&CD109728||-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|frameshift_variant|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1168|826|276|R/X|Agg/gg|rs863223324&CD109728||-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs863223324&CD109728|1412|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|21199492|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs863223324&CD109728|||||||||||||||||||||||||||pathogenic||1&1|21199492|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs863223324&CD109728|||||||||||||||||||||||||||pathogenic||1&1|21199492|||||
14 24709875 NM_001099274.3:c.811C>T G A . . CSQ=A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1102|811|271|Q/*|Caa/Taa|rs387907154&CM113549||-1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||997|706|236|Q/*|Caa/Taa|rs387907154&CM113549||-1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1153|811|271|Q/*|Caa/Taa|rs387907154&CM113549||-1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs387907154&CM113549|1427|1||EntrezGene||||||||C|C||||||||||||||||1&1|21477109|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs387907154&CM113549|||||||||||||||||||||||||||||1&1|21477109|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs387907154&CM113549|||||||||||||||||||||||||||||1&1|21477109|||||
14 24709881 NM_001099274.3:c.805C>T G A . . CSQ=A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002000.3|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002001.3|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001002002.3|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_001099274.3|protein_coding|6/9||||1096|805|269|Q/*|Cag/Tag|rs387907153&CM109726||-1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283021.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283022.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001283023.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351022.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351023.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351024.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351025.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_001351026.2|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_001363668.2|protein_coding|5/8||||991|700|234|Q/*|Cag/Tag|rs387907153&CM109726||-1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|stop_gained|HIGH|TINF2|26277|Transcript|NM_012461.3|protein_coding|6/6||||1147|805|269|Q/*|Cag/Tag|rs387907153&CM109726||-1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NM_016576.5|protein_coding||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|downstream_gene_variant|MODIFIER|GMPR2|51292|Transcript|NR_104265.2|misc_RNA||||||||||rs387907153&CM109726|1433|1||EntrezGene||||||||C|C||||||||||||||||1&1|21199492&21477109|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066845|promoter||||||||||rs387907153&CM109726|||||||||||||||||||||||||||||1&1|21199492&21477109|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001565547|CTCF_binding_site||||||||||rs387907153&CM109726|||||||||||||||||||||||||||||1&1|21199492&21477109|||||
15 34634228 NM_018648.4:c.122_135delinsCACC TTCGGTGTCGAGAGT TGGTG . . CSQ=GGTG|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001042494.2|protein_coding||||||||||rs1595604667|4247|-1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001042495.2|protein_coding||||||||||rs1595604667|3971|-1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001042496.2|protein_coding||||||||||rs1595604667|4247|-1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|upstream_gene_variant|MODIFIER|NUTM1|256646|Transcript|NM_001284292.2|protein_coding||||||||||rs1595604667|1274|1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|upstream_gene_variant|MODIFIER|NUTM1|256646|Transcript|NM_001284293.2|protein_coding||||||||||rs1595604667|1274|1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001365088.1|protein_coding||||||||||rs1595604667|4247|-1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|frameshift_variant|HIGH|NOP10|55505|Transcript|NM_018648.4|protein_coding|2/2||||185-198|122-135|41-45|YSRHR/SX|tACTCTCGACACCGA/tCACC|rs1595604667||-1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|upstream_gene_variant|MODIFIER|NUTM1|256646|Transcript|NM_175741.3|protein_coding||||||||||rs1595604667|1274|1||EntrezGene||||||||ACTCTCGACACCGA|ACTCTCGACACCGA||||||||||||||||1||||||,GGTG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000074790|promoter||||||||||rs1595604667|||||||||||||||||||||||||||||1||||||
15 34634264 NM_018648.4:c.100C>T G A . . CSQ=A|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001042494.2|protein_coding||||||||||rs121908092&CM073242|4282|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001042495.2|protein_coding||||||||||rs121908092&CM073242|4006|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001042496.2|protein_coding||||||||||rs121908092&CM073242|4282|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|upstream_gene_variant|MODIFIER|NUTM1|256646|Transcript|NM_001284292.2|protein_coding||||||||||rs121908092&CM073242|1252|1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|upstream_gene_variant|MODIFIER|NUTM1|256646|Transcript|NM_001284293.2|protein_coding||||||||||rs121908092&CM073242|1252|1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|upstream_gene_variant|MODIFIER|SLC12A6|9990|Transcript|NM_001365088.1|protein_coding||||||||||rs121908092&CM073242|4282|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|missense_variant|MODERATE|NOP10|55505|Transcript|NM_018648.4|protein_coding|2/2||||163|100|34|R/W|Cgg/Tgg|rs121908092&CM073242||-1||EntrezGene||||||||C|C||deleterious(0)|possibly_damaging(0.714)|||||||||||||1&1|20301779&17507419|||||,A|upstream_gene_variant|MODIFIER|NUTM1|256646|Transcript|NM_175741.3|protein_coding||||||||||rs121908092&CM073242|1252|1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&17507419|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000074790|promoter||||||||||rs121908092&CM073242|||||||||||||||||||||||||||||1&1|20301779&17507419|||||
16 14674731 NM_002582.4:c.1262A>G T C . . CSQ=C|missense_variant&splice_region_variant|MODERATE|PARN|5073|Transcript|NM_001134477.3|protein_coding|18/24||||1314|1079|360|K/R|aAg/aGg|rs777090017&CM154429||-1||EntrezGene||||||||A|A||tolerated(0.05)|possibly_damaging(0.64)||8.034e-06|0|0|0|0|0|1.772e-05|0|0|||1&1|25848748|||||,C|missense_variant&splice_region_variant|MODERATE|PARN|5073|Transcript|NM_001242992.2|protein_coding|17/23||||1259|1124|375|K/R|aAg/aGg|rs777090017&CM154429||-1||EntrezGene||||||||A|A||deleterious(0.01)|benign(0.077)||8.034e-06|0|0|0|0|0|1.772e-05|0|0|||1&1|25848748|||||,C|missense_variant&splice_region_variant|MODERATE|PARN|5073|Transcript|NM_002582.4|protein_coding|18/24||||1397|1262|421|K/R|aAg/aGg|rs777090017&CM154429||-1||EntrezGene||||||||A|A||deleterious(0.01)|possibly_damaging(0.64)||8.034e-06|0|0|0|0|0|1.772e-05|0|0|||1&1|25848748|||||
16 14674735 NM_002582.4:c.1257dup T TA . . CSQ=A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|18/24||||1309-1310|1074-1075|358-359|-/X|-/T|rs942538351||-1||EntrezGene||||||||||||||4.022e-06|0|0|0|0|0|8.868e-06|0|0|pathogenic||1||||||,A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|17/23||||1254-1255|1119-1120|373-374|-/X|-/T|rs942538351||-1||EntrezGene||||||||||||||4.022e-06|0|0|0|0|0|8.868e-06|0|0|pathogenic||1||||||,A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|18/24||||1392-1393|1257-1258|419-420|-/X|-/T|rs942538351||-1||EntrezGene||||||||||||||4.022e-06|0|0|0|0|0|8.868e-06|0|0|pathogenic||1||||||
16 14676082 NM_002582.4:c.1148C>T G A . . CSQ=A|missense_variant|MODERATE|PARN|5073|Transcript|NM_001134477.3|protein_coding|17/24||||1200|965|322|A/V|gCc/gTc|rs786200999&CM153821||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||||1&1|25893599|||||,A|missense_variant|MODERATE|PARN|5073|Transcript|NM_001242992.2|protein_coding|16/23||||1145|1010|337|A/V|gCc/gTc|rs786200999&CM153821||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||||1&1|25893599|||||,A|missense_variant|MODERATE|PARN|5073|Transcript|NM_002582.4|protein_coding|17/24||||1283|1148|383|A/V|gCc/gTc|rs786200999&CM153821||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||||1&1|25893599|||||
16 14676096 NM_002582.4:c.1124_1133del CTCGTGGAGTT C . . CSQ=-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|17/24||||1176-1185|941-950|314-317|QLHE/X|cAACTCCACGAg/cg|||-1||EntrezGene||||||||AACTCCACGA|AACTCCACGA||||||||||||||||||||||,-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|16/23||||1121-1130|986-995|329-332|QLHE/X|cAACTCCACGAg/cg|||-1||EntrezGene||||||||AACTCCACGA|AACTCCACGA||||||||||||||||||||||,-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|17/24||||1259-1268|1124-1133|375-378|QLHE/X|cAACTCCACGAg/cg|||-1||EntrezGene||||||||AACTCCACGA|AACTCCACGA||||||||||||||||||||||
16 14678240 NM_002582.4:c.1045C>T G A . . CSQ=A|missense_variant|MODERATE|PARN|5073|Transcript|NM_001134477.3|protein_coding|16/24||||1097|862|288|R/W|Cgg/Tgg|rs754368658&CM1514210||-1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.864)||8.032e-06|0|0|0|0|0|1.772e-05|0|0|||1&1|26342108|||||,A|missense_variant|MODERATE|PARN|5073|Transcript|NM_001242992.2|protein_coding|15/23||||1042|907|303|R/W|Cgg/Tgg|rs754368658&CM1514210||-1||EntrezGene||||||||C|C||deleterious(0.01)|possibly_damaging(0.894)||8.032e-06|0|0|0|0|0|1.772e-05|0|0|||1&1|26342108|||||,A|missense_variant|MODERATE|PARN|5073|Transcript|NM_002582.4|protein_coding|16/24||||1180|1045|349|R/W|Cgg/Tgg|rs754368658&CM1514210||-1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.864)||8.032e-06|0|0|0|0|0|1.772e-05|0|0|||1&1|26342108|||||
16 14678281 NM_002582.4:c.1006-2A>G T C . . CSQ=C|splice_acceptor_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding||15/23||||||||rs1469272825&COSV58372134||-1||EntrezGene||||||||A|A|||||4.027e-06|0|0|0|5.574e-05|0|0|0|0||0&1|1&1||||||,C|splice_acceptor_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding||14/22||||||||rs1469272825&COSV58372134||-1||EntrezGene||||||||A|A|||||4.027e-06|0|0|0|5.574e-05|0|0|0|0||0&1|1&1||||||,C|splice_acceptor_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding||15/23||||||||rs1469272825&COSV58372134||-1||EntrezGene||||||||A|A|||||4.027e-06|0|0|0|5.574e-05|0|0|0|0||0&1|1&1||||||
16 14680187 NM_002582.4:c.948_949del CAT C . . CSQ=-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|14/24||||1000-1001|765-766|255-256|TC/TX|acATgt/acgt|rs1461036243||-1||EntrezGene||||||||AT|AT|||||5.8e-06|0|0|0|0|0|1.437e-05|0|0|pathogenic||1||||||,-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|13/23||||945-946|810-811|270-271|TC/TX|acATgt/acgt|rs1461036243||-1||EntrezGene||||||||AT|AT|||||5.8e-06|0|0|0|0|0|1.437e-05|0|0|pathogenic||1||||||,-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|14/24||||1083-1084|948-949|316-317|TC/TX|acATgt/acgt|rs1461036243||-1||EntrezGene||||||||AT|AT|||||5.8e-06|0|0|0|0|0|1.437e-05|0|0|pathogenic||1||||||
16 14687157 NM_002582.4:c.918+1G>T C A . . CSQ=A|splice_donor_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding||13/23||||||||rs756132866&CS153822||-1||EntrezGene||||||||G|G|||||8.059e-06|0|0|0|0|0|0|0|6.566e-05|||1&1|25893599|||||,A|splice_donor_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding||12/22||||||||rs756132866&CS153822||-1||EntrezGene||||||||G|G|||||8.059e-06|0|0|0|0|0|0|0|6.566e-05|||1&1|25893599|||||,A|splice_donor_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding||13/23||||||||rs756132866&CS153822||-1||EntrezGene||||||||G|G|||||8.059e-06|0|0|0|0|0|0|0|6.566e-05|||1&1|25893599|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001584094|promoter_flanking_region||||||||||rs756132866&CS153822||||||||||||||||||8.059e-06|0|0|0|0|0|0|0|6.566e-05|||1&1|25893599|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001879308|CTCF_binding_site||||||||||rs756132866&CS153822||||||||||||||||||8.059e-06|0|0|0|0|0|0|0|6.566e-05|||1&1|25893599|||||
16 14687212 NM_002582.4:c.863dup A AT . . CSQ=T|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|13/24||||915-916|680-681|227|N/KX|aat/aaAt|rs786201001||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|25893599|||||,T|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|12/23||||860-861|725-726|242|N/KX|aat/aaAt|rs786201001||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|25893599|||||,T|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|13/24||||998-999|863-864|288|N/KX|aat/aaAt|rs786201001||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|25893599|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001584094|promoter_flanking_region||||||||||rs786201001|||||||||||||||||||||||||||pathogenic||1|25893599|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001879308|CTCF_binding_site||||||||||rs786201001|||||||||||||||||||||||||||pathogenic||1|25893599|||||
16 14693781 NM_002582.4:c.819_820insTAGAAATCATTTCTAGAGTC T TGACTCTAGAAATGATTTCTA . . CSQ=GACTCTAGAAATGATTTCTA|stop_gained&frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|12/24||||871-872|636-637|212-213|-/*KSFLEX|-/TAGAAATCATTTCTAGAGTC|rs1596812454||-1||EntrezGene|||||||||||||||||||||||||1||||||,GACTCTAGAAATGATTTCTA|stop_gained&frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|11/23||||816-817|681-682|227-228|-/*KSFLEX|-/TAGAAATCATTTCTAGAGTC|rs1596812454||-1||EntrezGene|||||||||||||||||||||||||1||||||,GACTCTAGAAATGATTTCTA|stop_gained&frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|12/24||||954-955|819-820|273-274|-/*KSFLEX|-/TAGAAATCATTTCTAGAGTC|rs1596812454||-1||EntrezGene|||||||||||||||||||||||||1||||||
16 14693789 NM_002582.4:c.811dup G GA . . CSQ=A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|12/24||||863-864|628-629|210|S/FX|tct/tTct|||-1||EntrezGene|||||||||||||||||||||||||||||||,A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|11/23||||808-809|673-674|225|S/FX|tct/tTct|||-1||EntrezGene|||||||||||||||||||||||||||||||,A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|12/24||||946-947|811-812|271|S/FX|tct/tTct|||-1||EntrezGene|||||||||||||||||||||||||||||||
16 14698072 NM_002582.4:c.713dup A AT . . CSQ=T|stop_gained&frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|11/24||||765-766|530-531|177|Y/*|tat/taAt|||-1||EntrezGene|||||||||||||||||||||||||||||||,T|stop_gained&frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|10/23||||710-711|575-576|192|Y/*|tat/taAt|||-1||EntrezGene|||||||||||||||||||||||||||||||,T|stop_gained&frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|11/24||||848-849|713-714|238|Y/*|tat/taAt|||-1||EntrezGene|||||||||||||||||||||||||||||||
16 14698077 NM_002582.4:c.709C>T G A . . CSQ=A|stop_gained|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|11/24||||761|526|176|R/*|Cga/Tga|rs760506977&CM1514551||-1||EntrezGene||||||||C|C|||||4.691e-06|0|0|0|0|0|0|0|3.796e-05|||1&1||||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|10/23||||706|571|191|R/*|Cga/Tga|rs760506977&CM1514551||-1||EntrezGene||||||||C|C|||||4.691e-06|0|0|0|0|0|0|0|3.796e-05|||1&1||||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|11/24||||844|709|237|R/*|Cga/Tga|rs760506977&CM1514551||-1||EntrezGene||||||||C|C|||||4.691e-06|0|0|0|0|0|0|0|3.796e-05|||1&1||||||
16 14702130 NM_002582.3:c.659+4_659+7delAGTA ATACT A . . CSQ=-|splice_donor_5th_base_variant&intron_variant|LOW|PARN|5073|Transcript|NM_001134477.3|protein_coding||9/23||||||||rs759131762||-1||EntrezGene||||||||AGTA|AGTA|||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||,-|splice_donor_5th_base_variant&intron_variant|LOW|PARN|5073|Transcript|NM_001242992.2|protein_coding||8/22||||||||rs759131762||-1||EntrezGene||||||||AGTA|AGTA|||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||,-|splice_donor_5th_base_variant&intron_variant|LOW|PARN|5073|Transcript|NM_002582.4|protein_coding||9/23||||||||rs759131762||-1||EntrezGene||||||||AGTA|AGTA|||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001879311|open_chromatin_region||||||||||rs759131762||||||||||||||||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||
16 14702130 NM_002582.4:c.659+4_659+7del ATACT A . . CSQ=-|splice_donor_5th_base_variant&intron_variant|LOW|PARN|5073|Transcript|NM_001134477.3|protein_coding||9/23||||||||rs759131762||-1||EntrezGene||||||||AGTA|AGTA|||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||,-|splice_donor_5th_base_variant&intron_variant|LOW|PARN|5073|Transcript|NM_001242992.2|protein_coding||8/22||||||||rs759131762||-1||EntrezGene||||||||AGTA|AGTA|||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||,-|splice_donor_5th_base_variant&intron_variant|LOW|PARN|5073|Transcript|NM_002582.4|protein_coding||9/23||||||||rs759131762||-1||EntrezGene||||||||AGTA|AGTA|||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001879311|open_chromatin_region||||||||||rs759131762||||||||||||||||||4.629e-05|0|0.0001278|0|0|0|5.071e-05|0|4.49e-05|||1|25893599|||||
16 14702140 NM_002582.4:c.657G>A C T . . CSQ=T|stop_gained&splice_region_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|9/24||||709|474|158|W/*|tgG/tgA|rs1363931577&COSV100420952||-1||EntrezGene||||||||G|G|||||6.623e-06|0|0|0|0|0|1.692e-05|0|0||0&1|1&1||||||,T|stop_gained&splice_region_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|8/23||||654|519|173|W/*|tgG/tgA|rs1363931577&COSV100420952||-1||EntrezGene||||||||G|G|||||6.623e-06|0|0|0|0|0|1.692e-05|0|0||0&1|1&1||||||,T|stop_gained&splice_region_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|9/24||||792|657|219|W/*|tgG/tgA|rs1363931577&COSV100420952||-1||EntrezGene||||||||G|G|||||6.623e-06|0|0|0|0|0|1.692e-05|0|0||0&1|1&1||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001879311|open_chromatin_region||||||||||rs1363931577&COSV100420952||||||||||||||||||6.623e-06|0|0|0|0|0|1.692e-05|0|0||0&1|1&1||||||
16 14702971 NM_002582.4:c.563dup T TA . . CSQ=A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|8/24||||615-616|380-381|127|I/IX|ata/atTa|rs878853260||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|25848748|||||,A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|7/23||||560-561|425-426|142|I/IX|ata/atTa|rs878853260||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|25848748|||||,A|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|8/24||||698-699|563-564|188|I/IX|ata/atTa|rs878853260||-1||EntrezGene|||||||||||||||||||||||pathogenic||1|25848748|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001879312|promoter_flanking_region||||||||||rs878853260|||||||||||||||||||||||||||pathogenic||1|25848748|||||
16 14704526 NM_002582.4:c.529C>T G A . . CSQ=A|stop_gained|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding|7/24||||581|346|116|Q/*|Caa/Taa|rs876661305&CM154428&COSV58366692||-1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|25848748|||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|6/23||||526|391|131|Q/*|Caa/Taa|rs876661305&CM154428&COSV58366692||-1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|25848748|||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|7/24||||664|529|177|Q/*|Caa/Taa|rs876661305&CM154428&COSV58366692||-1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|25848748|||||
16 14721046 NM_002582.4:c.246-2A>G T C . . CSQ=C|splice_acceptor_variant|HIGH|PARN|5073|Transcript|NM_001134477.3|protein_coding||4/23||||||||rs751381953&CS154431||-1||EntrezGene||||||||A|A|||||4.248e-06|0|0|0|0|0|9.433e-06|0|0|||1&1|25848748|||||,C|intron_variant|MODIFIER|PARN|5073|Transcript|NM_001242992.2|protein_coding||3/22||||||||rs751381953&CS154431||-1||EntrezGene||||||||A|A|||||4.248e-06|0|0|0|0|0|9.433e-06|0|0|||1&1|25848748|||||,C|splice_acceptor_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding||4/23||||||||rs751381953&CS154431||-1||EntrezGene||||||||A|A|||||4.248e-06|0|0|0|0|0|9.433e-06|0|0|||1&1|25848748|||||
16 14722034 NM_002582.4:c.172A>T T A . . CSQ=A|5_prime_UTR_variant|MODIFIER|PARN|5073|Transcript|NM_001134477.3|protein_coding|3/24||||224|||||rs1064796768||-1||EntrezGene||||||||A|A||||||||||||||||1||||||,A|intron_variant|MODIFIER|PARN|5073|Transcript|NM_001242992.2|protein_coding||3/22||||||||rs1064796768||-1||EntrezGene||||||||A|A||||||||||||||||1||||||,A|upstream_gene_variant|MODIFIER|BFAR|51283|Transcript|NM_001330500.2|protein_coding||||||||||rs1064796768|4774|1||EntrezGene||||||||A|A||||||||||||||||1||||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|3/24||||307|172|58|K/*|Aaa/Taa|rs1064796768||-1||EntrezGene||||||||A|A||||||||||||||||1||||||,A|upstream_gene_variant|MODIFIER|BFAR|51283|Transcript|NM_016561.3|protein_coding||||||||||rs1064796768|4774|1||EntrezGene||||||||A|A||||||||||||||||1||||||
16 14723502 NM_002582.4:c.49C>T G A . . CSQ=A|5_prime_UTR_variant|MODIFIER|PARN|5073|Transcript|NM_001134477.3|protein_coding|2/24||||101|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|2/23||||184|49|17|Q/*|Cag/Tag|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|BFAR|51283|Transcript|NM_001330500.2|protein_coding|||||||||||3306|1||EntrezGene||||||||C|C||||||||||||||||||||||,A|stop_gained|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|2/24||||184|49|17|Q/*|Cag/Tag|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|BFAR|51283|Transcript|NM_016561.3|protein_coding|||||||||||3306|1||EntrezGene||||||||C|C||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000083721|promoter|||||||||||||||||||||||||||||||||||||||||||||
16 14723526 NM_002582.4:c.24del TA T . . CSQ=-|5_prime_UTR_variant|MODIFIER|PARN|5073|Transcript|NM_001134477.3|protein_coding|2/24||||76|||||rs1555512179||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_001242992.2|protein_coding|2/23||||159|24|8|F/X|ttT/tt|rs1555512179||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|upstream_gene_variant|MODIFIER|BFAR|51283|Transcript|NM_001330500.2|protein_coding||||||||||rs1555512179|3281|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|PARN|5073|Transcript|NM_002582.4|protein_coding|2/24||||159|24|8|F/X|ttT/tt|rs1555512179||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|upstream_gene_variant|MODIFIER|BFAR|51283|Transcript|NM_016561.3|protein_coding||||||||||rs1555512179|3281|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000083721|promoter||||||||||rs1555512179|||||||||||||||||||||||||||pathogenic||1||||||
16 67693491 NM_001082486.2:c.361del TC T . . CSQ=-|downstream_gene_variant|MODIFIER|CARMIL2|146206|Transcript|NM_001013838.3|protein_coding||||||||||rs1303559181|2020|1||EntrezGene||||||||G|G||||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|PARD6A|50855|Transcript|NM_001037281.2|protein_coding||||||||||rs1303559181|1371|1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|ACD|65057|Transcript|NM_001082486.2|protein_coding|4/12||||401|361|121|D/X|Gac/ac|rs1303559181||-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|CARMIL2|146206|Transcript|NM_001317026.3|protein_coding||||||||||rs1303559181|2020|1||EntrezGene||||||||G|G||||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|PARD6A|50855|Transcript|NM_016948.3|protein_coding||||||||||rs1303559181|1371|1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|ACD|65057|Transcript|NM_022914.3|protein_coding|4/12||||392|352|118|D/X|Gac/ac|rs1303559181||-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ENKD1|84080|Transcript|NM_032140.3|protein_coding||||||||||rs1303559181|3356|-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ENKD1|84080|Transcript|NR_138150.2|misc_RNA||||||||||rs1303559181|3356|-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000087164|promoter||||||||||rs1303559181|||||||||||||||||||||||||||||||||||
16 67693688 NM_001082486.2:c.250_252del CCTT C . . CSQ=-|downstream_gene_variant|MODIFIER|CARMIL2|146206|Transcript|NM_001013838.3|protein_coding||||||||||rs797045144|2217|1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|upstream_gene_variant|MODIFIER|PARD6A|50855|Transcript|NM_001037281.2|protein_coding||||||||||rs797045144|1172|1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|inframe_deletion|MODERATE|ACD|65057|Transcript|NM_001082486.2|protein_coding|3/12||||290-292|250-252|84|K/-|AAG/-|rs797045144||-1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|downstream_gene_variant|MODIFIER|CARMIL2|146206|Transcript|NM_001317026.3|protein_coding||||||||||rs797045144|2217|1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|upstream_gene_variant|MODIFIER|PARD6A|50855|Transcript|NM_016948.3|protein_coding||||||||||rs797045144|1172|1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|inframe_deletion|MODERATE|ACD|65057|Transcript|NM_022914.3|protein_coding|3/12||||281-283|241-243|81|K/-|AAG/-|rs797045144||-1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|downstream_gene_variant|MODIFIER|ENKD1|84080|Transcript|NM_032140.3|protein_coding||||||||||rs797045144|3157|-1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|downstream_gene_variant|MODIFIER|ENKD1|84080|Transcript|NR_138150.2|misc_RNA||||||||||rs797045144|3157|-1||EntrezGene||||||||AAG|AAG||||||||||||||pathogenic||1|25233904&25205116|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000087164|promoter||||||||||rs797045144|||||||||||||||||||||||||||pathogenic||1|25233904&25205116|||||
17 7605823 NM_001143992.2:c.1118del CT C . . CSQ=-|frameshift_variant|HIGH|WRAP53|55135|Transcript|NM_001143990.2|protein_coding|8/11||||1273|1118|373|L/X|cTc/cc|rs1597422298||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|WRAP53|55135|Transcript|NM_001143991.2|protein_coding|8/11||||1294|1118|373|L/X|cTc/cc|rs1597422298||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|WRAP53|55135|Transcript|NM_001143992.2|protein_coding|8/11||||1204|1118|373|L/X|cTc/cc|rs1597422298||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|upstream_gene_variant|MODIFIER|EFNB3|1949|Transcript|NM_001406.4|protein_coding||||||||||rs1597422298|2696|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|WRAP53|55135|Transcript|NM_018081.2|protein_coding|7/10||||1418|1118|373|L/X|cTc/cc|rs1597422298||1||EntrezGene||||||||T|T|OK|||||||||||||pathogenic||1||||||
17 7605832 NM_001143992.2:c.1126C>T C T . . CSQ=T|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_001143990.2|protein_coding|8/11||||1281|1126|376|H/Y|Cat/Tat|rs281865549&CM110279||1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.555)|||||||||||pathogenic||1&1|20301779&21205863|||||,T|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_001143991.2|protein_coding|8/11||||1302|1126|376|H/Y|Cat/Tat|rs281865549&CM110279||1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.555)|||||||||||pathogenic||1&1|20301779&21205863|||||,T|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_001143992.2|protein_coding|8/11||||1212|1126|376|H/Y|Cat/Tat|rs281865549&CM110279||1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.555)|||||||||||pathogenic||1&1|20301779&21205863|||||,T|upstream_gene_variant|MODIFIER|EFNB3|1949|Transcript|NM_001406.4|protein_coding||||||||||rs281865549&CM110279|2688|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&21205863|||||,T|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_018081.2|protein_coding|7/10||||1426|1126|376|H/Y|Cat/Tat|rs281865549&CM110279||1||EntrezGene||||||||C|C|OK|deleterious(0.02)|possibly_damaging(0.555)|||||||||||pathogenic||1&1|20301779&21205863|||||
17 7606345 NM_001143992.2:c.1303G>A G A . . CSQ=A|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_001143990.2|protein_coding|10/11||||1458|1303|435|G/R|Ggg/Agg|rs281865550&CM110282&COSV56833035||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)||7.958e-06|0|0|9.921e-05|0|0|0|0|3.266e-05|pathogenic|0&0&1|1&1&1|20301779&21205863|||||,A|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_001143991.2|protein_coding|10/11||||1479|1303|435|G/R|Ggg/Agg|rs281865550&CM110282&COSV56833035||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)||7.958e-06|0|0|9.921e-05|0|0|0|0|3.266e-05|pathogenic|0&0&1|1&1&1|20301779&21205863|||||,A|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_001143992.2|protein_coding|10/11||||1389|1303|435|G/R|Ggg/Agg|rs281865550&CM110282&COSV56833035||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)||7.958e-06|0|0|9.921e-05|0|0|0|0|3.266e-05|pathogenic|0&0&1|1&1&1|20301779&21205863|||||,A|upstream_gene_variant|MODIFIER|EFNB3|1949|Transcript|NM_001406.4|protein_coding||||||||||rs281865550&CM110282&COSV56833035|2175|1||EntrezGene||||||||G|G|||||7.958e-06|0|0|9.921e-05|0|0|0|0|3.266e-05|pathogenic|0&0&1|1&1&1|20301779&21205863|||||,A|missense_variant|MODERATE|WRAP53|55135|Transcript|NM_018081.2|protein_coding|9/10||||1603|1303|435|G/R|Ggg/Agg|rs281865550&CM110282&COSV56833035||1||EntrezGene||||||||G|G|OK|deleterious(0)|probably_damaging(1)||7.958e-06|0|0|9.921e-05|0|0|0|0|3.266e-05|pathogenic|0&0&1|1&1&1|20301779&21205863|||||
17 8131569 NM_025099.6:c.3583C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|23/23||||3603|3583|1195|R/*|Cga/Tga|rs199473682&CM121909||-1||EntrezGene||||||||C|C||||||||||||||||1&1|22387016|||||,A|upstream_gene_variant|MODIFIER|LINC00324|284029|Transcript|NR_026951.1|lncRNA||||||||||rs199473682&CM121909|4208|-1||EntrezGene||||||||C|C|OK|||||||||||||||1&1|22387016|||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|22/22||||3433|||||rs199473682&CM121909||-1||EntrezGene||||||||C|C||||||||||||||||1&1|22387016|||||
17 8131910 NM_025099.6:c.3425T>A A T . . CSQ=T|missense_variant|MODERATE|CTC1|80169|Transcript|NM_025099.6|protein_coding|22/23||||3445|3425|1142|L/H|cTc/cAc|rs201455840||-1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.999)||9.216e-05|0|0|0|0|0.00102|8.829e-06|0|0|||1|22387016|||||,T|upstream_gene_variant|MODIFIER|LINC00324|284029|Transcript|NR_026951.1|lncRNA||||||||||rs201455840|4549|-1||EntrezGene||||||||T|T|OK||||9.216e-05|0|0|0|0|0.00102|8.829e-06|0|0|||1|22387016|||||,T|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|21/22||||3275|||||rs201455840||-1||EntrezGene||||||||T|T|||||9.216e-05|0|0|0|0|0.00102|8.829e-06|0|0|||1|22387016|||||
17 8132074 NM_025099.6:c.3358C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|21/23||||3378|3358|1120|Q/*|Cag/Tag|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|LINC00324|284029|Transcript|NR_026951.1|lncRNA|||||||||||4713|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|20/22||||3208|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||
17 8132676 NM_025099.6:c.3099dup C CA . . CSQ=A|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|19/23||||3119-3120|3099-3100|1033-1034|-/X|-/T|rs1597374251||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|19/22||||3014-3015|||||rs1597374251||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||
17 8132727 NM_025099.6:c.3049C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|19/23||||3069|3049|1017|Q/*|Cag/Tag|rs1567599296||-1||EntrezGene||||||||C|C||||||||||||||||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|19/22||||2964|||||rs1567599296||-1||EntrezGene||||||||C|C||||||||||||||||1||||||
17 8132756 NM_025099.6:c.3019del AG A . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|19/23||||3039|3019|1007|L/X|Ctg/tg|rs199473680&CD121912||-1||EntrezGene||||||||C|C|||||0.0001889|0|0|0|0|0.001161|0.0001863|0.0001653|0|||0&1|22387016|||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|19/22||||2934|||||rs199473680&CD121912||-1||EntrezGene||||||||C|C|||||0.0001889|0|0|0|0|0.001161|0.0001863|0.0001653|0|||0&1|22387016|||||
17 8133222 NM_025099.6:c.2996_2997del CAG C . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|18/23||||3016-3017|2996-2997|999|P/X|cCT/c|rs761922947||-1||EntrezGene||||||||CT|CT|||||2.805e-05|0|0.0001159|0|0|0|1.766e-05|0.000165|0|pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|18/22||||2911-2912|||||rs761922947||-1||EntrezGene||||||||CT|CT|||||2.805e-05|0|0.0001159|0|0|0|1.766e-05|0.000165|0|pathogenic||1||||||
17 8133247 NM_025099.6:c.2973T>G A C . . CSQ=C|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|18/23||||2993|2973|991|Y/*|taT/taG|||-1||EntrezGene||||||||T|T||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|18/22||||2888|||||||-1||EntrezGene||||||||T|T||||||||||||||||||||||
17 8133261 NM_025099.6:c.2959C>T G A . . CSQ=A|missense_variant|MODERATE|CTC1|80169|Transcript|NM_025099.6|protein_coding|18/23||||2979|2959|987|R/W|Cgg/Tgg|rs202138550&CM121576&COSV59852744||-1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.88)|0.0004|5.611e-05|6.459e-05|2.897e-05|0|0|0|0.0001059|0|0||0&0&1|1&1&1|22267198|||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|18/22||||2874|||||rs202138550&CM121576&COSV59852744||-1||EntrezGene||||||||C|C||||0.0004|5.611e-05|6.459e-05|2.897e-05|0|0|0|0.0001059|0|0||0&0&1|1&1&1|22267198|||||
17 8133656 NM_025099.6:c.2888del TG T . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|17/23||||2908|2888|963|P/X|cCa/ca|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|17/22||||2803|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||
17 8133694 NM_025099.6:c.2847_2850del CTATA C . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|17/23||||2867-2870|2847-2850|949-950|YI/X|taTATA/ta|||-1||EntrezGene||||||||TATA|TATA||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|17/22||||2762-2765|||||||-1||EntrezGene||||||||TATA|TATA||||||||||||||||||||||
17 8133713 NM_025099.6:c.2831del AG A . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|17/23||||2851|2831|944|P/X|cCt/ct|rs199473677&CD121911||-1||EntrezGene||||||||C|C|||||0.0004088|6.458e-05|2.898e-05|0|0|0.00269|0.0003268|0.0008254|0|pathogenic||1&1|22387016|||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|17/22||||2746|||||rs199473677&CD121911||-1||EntrezGene||||||||C|C|||||0.0004088|6.458e-05|2.898e-05|0|0|0.00269|0.0003268|0.0008254|0|pathogenic||1&1|22387016|||||
17 8133713 NM_025099.6:c.2831dup A AG . . CSQ=G|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|17/23||||2851-2852|2831-2832|944|P/PX|cct/ccCt|rs199473677||-1||EntrezGene||||||||||||||1.202e-05|0|2.898e-05|0|0|0|0|0.0001651|3.268e-05|pathogenic||1|22387016|||||,G|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|17/22||||2746-2747|||||rs199473677||-1||EntrezGene||||||||||||||1.202e-05|0|2.898e-05|0|0|0|0|0.0001651|3.268e-05|pathogenic||1|22387016|||||
17 8134689 NM_025099.6:c.2561_2573del CCAGTTGTCCTGGA C . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|15/23||||2581-2593|2561-2573|854-858|VQDNW/X|gTCCAGGACAACTGg/gg|||-1||EntrezGene||||||||TCCAGGACAACTG|TCCAGGACAACTG||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|15/22||||2476-2488|||||||-1||EntrezGene||||||||TCCAGGACAACTG|TCCAGGACAACTG||||||||||||||||||||||
17 8135480 NM_025099.6:c.2126C>G G C . . CSQ=C|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|13/23||||2146|2126|709|S/*|tCa/tGa|rs1201426650||-1||EntrezGene||||||||C|C||||||||||||||||1||||||,C|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|13/22||||2041|||||rs1201426650||-1||EntrezGene||||||||C|C||||||||||||||||1||||||
17 8135745 NM_025099.6:c.1994T>G A C . . CSQ=C|missense_variant|MODERATE|CTC1|80169|Transcript|NM_025099.6|protein_coding|12/23||||2014|1994|665|V/G|gTg/gGg|rs199473676&CM121914||-1||EntrezGene||||||||T|T||deleterious(0)|possibly_damaging(0.893)||0.0002004|0|0|0|0|0.002226|1.767e-05|0|0|||1&1|22387016|||||,C|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|12/22||||1909|||||rs199473676&CM121914||-1||EntrezGene||||||||T|T|||||0.0002004|0|0|0|0|0.002226|1.767e-05|0|0|||1&1|22387016|||||
17 8137838 NM_025099.6:c.1753C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|10/23||||1773|1753|585|Q/*|Caa/Taa|rs952398755||-1||EntrezGene||||||||C|C|||||6.102e-06|0|0|0|0|0|1.522e-05|0|0|||||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|10/22||||1668|||||rs952398755||-1||EntrezGene||||||||C|C|||||6.102e-06|0|0|0|0|0|1.522e-05|0|0|||||||||
17 8137919 NM_025099.6:c.1668_1671del CTTCT C . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|10/23||||1688-1691|1668-1671|556-557|KE/X|aaAGAA/aa|rs1237260493||-1||EntrezGene||||||||AGAA|AGAA||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|10/22||||1583-1586|||||rs1237260493||-1||EntrezGene||||||||AGAA|AGAA||||||||||||||||||||||
17 8138564 NM_025099.6:c.1245del TC T . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|8/23||||1265|1245|415|G/X|ggG/gg|rs1567609103||-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|8/22||||1160|||||rs1567609103||-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1||||||
17 8138596 NM_025099.6:c.1213del TC T . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|8/23||||1233|1213|405|D/X|Gat/at|rs1444923772&CD1211646||-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|8/22||||1128|||||rs1444923772&CD1211646||-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1||||||
17 8139169 NM_025099.6:c.1186C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|7/23||||1206|1186|396|R/*|Cga/Tga|rs764019241&COSV59853159||-1||EntrezGene||||||||C|C|||||8.034e-06|0|0|0|0|0|8.852e-06|0.0001657|0||0&1|1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|7/22||||1101|||||rs764019241&COSV59853159||-1||EntrezGene||||||||C|C|||||8.034e-06|0|0|0|0|0|8.852e-06|0.0001657|0||0&1|1&1||||||
17 8139378 NM_025099.6:c.1070_1074del AATAGG A . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|6/23||||1090-1094|1070-1074|357-358|SY/X|tCCTAT/t|rs773120259||-1||EntrezGene||||||||CCTAT|CCTAT|||||5.224e-05|6.458e-05|0|0|0|0|8.861e-06|0.0001654|0.0003273|||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|6/22||||985-989|||||rs773120259||-1||EntrezGene||||||||CCTAT|CCTAT|||||5.224e-05|6.458e-05|0|0|0|0|8.861e-06|0.0001654|0.0003273|||||||||
17 8139394 NM_025099.6:c.1058del AG A . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|6/23||||1078|1058|353|S/X|tCt/tt|rs199473675&CD121910||-1||EntrezGene||||||||C|C|||||2.006e-05|0|0|0|0|0.0002323|0|0|0|pathogenic||1&1|22387016|||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|6/22||||973|||||rs199473675&CD121910||-1||EntrezGene||||||||C|C|||||2.006e-05|0|0|0|0|0.0002323|0|0|0|pathogenic||1&1|22387016|||||
17 8139594 NM_025099.6:c.859C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|6/23||||879|859|287|R/*|Cga/Tga|rs397514660&CM121572&COSV59853125||-1||EntrezGene||||||||C|C|||||1.609e-05|0|2.897e-05|9.944e-05|0|0|8.862e-06|0|3.269e-05||0&0&1|1&1&1|22267198|||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|6/22||||774|||||rs397514660&CM121572&COSV59853125||-1||EntrezGene||||||||C|C|||||1.609e-05|0|2.897e-05|9.944e-05|0|0|8.862e-06|0|3.269e-05||0&0&1|1&1&1|22267198|||||
17 8140710 NM_025099.6:c.775G>A C T . . CSQ=T|missense_variant|MODERATE|CTC1|80169|Transcript|NM_025099.6|protein_coding|5/23||||795|775|259|V/M|Gtg/Atg|rs387907080&CM121578||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.999)||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|||||,T|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|5/22||||690|||||rs387907080&CM121578||-1||EntrezGene||||||||G|G|||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001120957|TF_binding_site||||||||||rs387907080&CM121578||||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522533220|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0031|14|N|-0.015|CLOCK::EVX1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00543766504|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0034|16|N|-0.014|CLOCK::EVX1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522446539|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0033|13|N|-0.122|CLOCK::EVX1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00796107451|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0565|18|Y|-0.043|TEAD4::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00717717505|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0595|18|Y|-0.040|TFAP2C::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522726161|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0111|3|N|-0.016|ERF::CLOCK,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00851434107|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0239|5|Y|-0.033|GCM1::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00795519911|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0564|16|Y|-0.042|TEAD4::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00642461584|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0240|18|Y|-0.028|GCM1::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522544047|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0036|22|N|0.019|CLOCK::FIGLA,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00718902509|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0402|20|Y|-0.054|MYBL1::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00641856750|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0238|5|Y|-0.050|GCM1::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00807892338|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0597|27|Y|-0.037|TFAP2C::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522511592|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0038|17|Y|-0.038|CLOCK::NHLH1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00527019385|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0024|5|Y|-0.106|MLXIPL&TFE3&TFEC&MLX&TFEB&BHLHB3&BHLHE41&ARNTL&BHLHB2&USF1&SREBF2&MYCL2&MNT&HES2&HES7,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00796697408|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0566|11|Y|-0.051|TEAD4::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522772373|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0037|17|N|-0.022|CLOCK::NHLH1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522711358|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0035|20|N|-0.014|CLOCK::FIGLA,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522646960|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0025|5|Y|-0.049|MNT&MAX&CLOCK&HEY2&HES5,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00716511546|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0401|4|Y|-0.047|MYBL1::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00808490073|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0598|28|Y|-0.044|TFAP2C::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00701311399|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0365|3|N|-0.027|MAX&TFAP4::MAX&CLOCK::BHLHA15,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522676400|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0039|14|Y|-0.037|CLOCK::TBX3,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00899238452|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0596|19|Y|-0.048|TFAP2C::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00777340784|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0525|5|Y|0.034|TEAD4::CLOCK&TEAD4::HES7,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00653382119|||||||||||rs387907080&CM121578||1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0260|2|N|0.037|GCM2::MAX,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00719504775|||||||||||rs387907080&CM121578||-1||||||||||||||||8.014e-06|0|5.792e-05|0|0|0|0|0|0|||1&1|18076099&22267198|ENSPFM0403|21|N|-0.034|MYBL1::MAX
17 8140757 NM_025099.6:c.724_727del GCTTT G . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|5/23||||744-747|724-727|242-243|KA/X|AAAGct/ct|rs199473674||-1||EntrezGene||||||||AAAG|AAAG|||||0.0002003|0|0.0005503|0|0|0|0.0002471|0.0004949|0|pathogenic||1|22387016&18076099&22267198&22532422|||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA||4/21||||||||rs199473674||-1||EntrezGene||||||||AAAG|AAAG|||||0.0002003|0|0.0005503|0|0|0|0.0002471|0.0004949|0|pathogenic||1|22387016&18076099&22267198&22532422|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001120957|TF_binding_site||||||||||rs199473674||||||||||||||||||0.0002003|0|0.0005503|0|0|0|0.0002471|0.0004949|0|pathogenic||1|22387016&18076099&22267198&22532422|||||
17 8140805 NM_025099.6:c.680C>T G A . . CSQ=A|missense_variant|MODERATE|CTC1|80169|Transcript|NM_025099.6|protein_coding|5/23||||700|680|227|A/V|gCt/gTt|rs199473673&CM121913||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.998)|0.0002|0.0001523|0|0|0|0|0.001716|8.828e-06|0|0|||1&1|16943371&22387016|||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA||4/21||||||||rs199473673&CM121913||-1||EntrezGene||||||||C|C||||0.0002|0.0001523|0|0|0|0|0.001716|8.828e-06|0|0|||1&1|16943371&22387016|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001120957|TF_binding_site||||||||||rs199473673&CM121913|||||||||||||||||0.0002|0.0001523|0|0|0|0|0.001716|8.828e-06|0|0|||1&1|16943371&22387016|||||
17 8140815 NM_025099.6:c.670C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|5/23||||690|670|224|R/*|Cga/Tga|rs1169567839&COSV59853165||-1||EntrezGene||||||||C|C|||||8.015e-06|0|0|0|0|0|1.766e-05|0|0||0&1|1&1||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA||4/21||||||||rs1169567839&COSV59853165||-1||EntrezGene||||||||C|C|||||8.015e-06|0|0|0|0|0|1.766e-05|0|0||0&1|1&1||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001120957|TF_binding_site||||||||||rs1169567839&COSV59853165||||||||||||||||||8.015e-06|0|0|0|0|0|1.766e-05|0|0||0&1|1&1||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522687230|||||||||||rs1169567839&COSV59853165||1||||||||||||||||8.015e-06|0|0|0|0|0|1.766e-05|0|0||0&1|1&1||ENSPFM0526|10|N|0.025|TEAD4::CLOCK
17 8141404 NM_025099.6:c.591del CG C . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|4/23||||611|591|197|P/X|ccC/cc|rs1567613669||-1||EntrezGene||||||||C|C|||||8.02e-06|0|0|0|0.0001112|0|0|0|0|||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|4/22||||611|||||rs1567613669||-1||EntrezGene||||||||C|C|||||8.02e-06|0|0|0|0.0001112|0|0|0|0|||||||||
17 8141538 NM_025099.6:c.458G>A C T . . CSQ=T|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|4/23||||478|458|153|W/*|tGg/tAg|||-1||EntrezGene||||||||G|G||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|4/22||||478|||||||-1||EntrezGene||||||||G|G||||||||||||||||||||||
17 8141555 NM_025099.6:c.440del TA T . . CSQ=-|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|4/23||||460|440|147|I/X|aTa/aa|rs1196342305||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|4/22||||460|||||rs1196342305||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1||||||
17 8141823 NM_025099.6:c.322C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|3/23||||342|322|108|R/*|Cga/Tga|rs372031509&COSV59852512||-1||EntrezGene||||||||C|C|||||4.007e-06|0|2.896e-05|0|0|0|0|0|0||0&1|1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|3/22||||342|||||rs372031509&COSV59852512||-1||EntrezGene||||||||C|C|||||4.007e-06|0|2.896e-05|0|0|0|0|0|0||0&1|1&1||||||
17 8141868 NM_025099.6:c.277C>T G A . . CSQ=A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|3/23||||297|277|93|Q/*|Cag/Tag|rs767991627||-1||EntrezGene||||||||C|C|||||1.604e-05|0.0001292|2.897e-05|0|0|0|8.834e-06|0|0|||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|3/22||||297|||||rs767991627||-1||EntrezGene||||||||C|C|||||1.604e-05|0.0001292|2.897e-05|0|0|0|8.834e-06|0|0|||1||||||
17 8141896 NM_025099.6:c.248_251dup G GTGGC . . CSQ=TGGC|frameshift_variant|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|3/23||||268-269|248-249|83|S/RPX|agc/agGCCAc|||-1||EntrezGene|||||||||||||||||||||||||||||||,TGGC|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|3/22||||268-269|||||||-1||EntrezGene|||||||||||||||||||||||||||||||
17 8151336 NM_025099.6:c.19C>T G A . . CSQ=A|upstream_gene_variant|MODIFIER|PFAS|5198|Transcript|NM_012393.3|protein_coding||||||||||rs374877315&CM121571|1271|1||EntrezGene||||||||C|C|||||1.679e-05|0|2.952e-05|0|0|0|2.809e-05|0|0|||1&1||||||,A|stop_gained|HIGH|CTC1|80169|Transcript|NM_025099.6|protein_coding|1/23||||39|19|7|Q/*|Cag/Tag|rs374877315&CM121571||-1||EntrezGene||||||||C|C|||||1.679e-05|0|2.952e-05|0|0|0|2.809e-05|0|0|||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|CTC1|80169|Transcript|NR_046431.2|misc_RNA|1/22||||39|||||rs374877315&CM121571||-1||EntrezGene||||||||C|C|||||1.679e-05|0|2.952e-05|0|0|0|2.809e-05|0|0|||1&1||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000090978|promoter||||||||||rs374877315&CM121571||||||||||||||||||1.679e-05|0|2.952e-05|0|0|0|2.809e-05|0|0|||1&1||||||
20 62290763 NM_001283009.2:c.9del AG A . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|2/35||||334|9|3|K/X|aaG/aa|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||1/33||||||||||1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|2/35||||334|9|3|K/X|aaG/aa|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|2/35||||334|9|3|K/X|aaG/aa|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|2/38||||836|||||||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001951265|promoter|||||||||||||||||||||||||||||||||||||||||||||
20 62290859 NM_001283009.2:c.102+2T>C T C . . CSQ=C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding||2/34||||||||rs1555899111&CS131754||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1||||||,C|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||1/33||||||||rs1555899111&CS131754||1||EntrezGene||||||||T|T|OK|||||||||||||pathogenic||1&1||||||,C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding||2/34||||||||rs1555899111&CS131754||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1||||||,C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding||2/34||||||||rs1555899111&CS131754||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1||||||,C|splice_donor_variant&non_coding_transcript_variant|HIGH|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA||2/37||||||||rs1555899111&CS131754||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001951265|promoter||||||||||rs1555899111&CS131754|||||||||||||||||||||||||||pathogenic||1&1||||||
20 62293229 NM_001283009.2:c.329_332del ATTTA A . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|4/35||||654-657|329-332|110-111|IY/X|aTTTAc/ac|||1||EntrezGene||||||||TTTA|TTTA||||||||||||||||||||||,-|5_prime_UTR_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|3/34||||877-880|||||||1||EntrezGene||||||||TTTA|TTTA|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|4/35||||654-657|329-332|110-111|IY/X|aTTTAc/ac|||1||EntrezGene||||||||TTTA|TTTA||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|4/35||||654-657|329-332|110-111|IY/X|aTTTAc/ac|||1||EntrezGene||||||||TTTA|TTTA||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|4/38||||1156-1159|||||||1||EntrezGene||||||||TTTA|TTTA||||||||||||||||||||||
20 62293262 NM_001283009.2:c.361C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|4/35||||686|361|121|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|5_prime_UTR_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|3/34||||909|||||||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|4/35||||686|361|121|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|4/35||||686|361|121|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|4/38||||1188|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||
20 62293978 NM_001283009.2:c.475C>T C T . . CSQ=T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|5/35||||800|475|159|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|splice_region_variant&5_prime_UTR_variant|LOW|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|4/34||||1023|||||||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|5/35||||800|475|159|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|5/35||||872|547|183|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|5/38||||1302|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||
20 62294239 NM_001283009.2:c.535G>T G T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|6/35||||860|535|179|E/*|Gaa/Taa|rs1555899932&COSV100542321||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&1|1&1||||||,T|5_prime_UTR_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|5/34||||1083|||||rs1555899932&COSV100542321||1||EntrezGene||||||||G|G|OK|||||||||||||pathogenic|0&1|1&1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|6/35||||860|535|179|E/*|Gaa/Taa|rs1555899932&COSV100542321||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&1|1&1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|6/35||||932|607|203|E/*|Gaa/Taa|rs1555899932&COSV100542321||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&1|1&1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|6/38||||1362|||||rs1555899932&COSV100542321||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&1|1&1||||||
20 62297419 NM_001283009.2:c.602del GG G . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|7/35||||927|602|201|G/X|gGa/ga|rs863223336&CD172963||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|25848748|||||,-|5_prime_UTR_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|6/34||||1150|||||rs863223336&CD172963||1||EntrezGene||||||||G|G|OK|||||||||||||pathogenic||1&1|25848748|||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|7/35||||927|602|201|G/X|gGa/ga|rs863223336&CD172963||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|25848748|||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|7/35||||999|674|225|G/X|gGa/ga|rs863223336&CD172963||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|25848748|||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|7/38||||1429|||||rs863223336&CD172963||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|25848748|||||
20 62309538 NM_001283009.2:c.958+2dup T TT . . CSQ=T|splice_region_variant&intron_variant|LOW|RTEL1|51750|Transcript|NM_001283009.2|protein_coding||11/34||||||||rs869312855||1||EntrezGene|||||||||||||||||||||||pathogenic||1|25607374|||||,T|splice_region_variant&intron_variant|LOW|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||10/33||||||||rs869312855||1||EntrezGene||||||||||OK|||||||||||||pathogenic||1|25607374|||||,T|splice_region_variant&intron_variant|LOW|RTEL1|51750|Transcript|NM_016434.4|protein_coding||11/34||||||||rs869312855||1||EntrezGene|||||||||||||||||||||||pathogenic||1|25607374|||||,T|splice_region_variant&intron_variant|LOW|RTEL1|51750|Transcript|NM_032957.5|protein_coding||11/34||||||||rs869312855||1||EntrezGene|||||||||||||||||||||||pathogenic||1|25607374|||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA||11/37||||||||rs869312855||1||EntrezGene|||||||||||||||||||||||pathogenic||1|25607374|||||
20 62309662 NM_001283009.2:c.1001_1014del CTGCCTGGAGACGAC C . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|12/35||||1326-1339|1001-1014|334-338|LPGDD/X|cTGCCTGGAGACGAC/c|rs1601133145||1||EntrezGene||||||||TGCCTGGAGACGAC|TGCCTGGAGACGAC||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|11/34||||1549-1562|332-345|111-115|LPGDD/X|cTGCCTGGAGACGAC/c|rs1601133145||1||EntrezGene||||||||TGCCTGGAGACGAC|TGCCTGGAGACGAC|OK|||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|12/35||||1326-1339|1001-1014|334-338|LPGDD/X|cTGCCTGGAGACGAC/c|rs1601133145||1||EntrezGene||||||||TGCCTGGAGACGAC|TGCCTGGAGACGAC||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|12/35||||1398-1411|1073-1086|358-362|LPGDD/X|cTGCCTGGAGACGAC/c|rs1601133145||1||EntrezGene||||||||TGCCTGGAGACGAC|TGCCTGGAGACGAC||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|12/38||||1828-1841|||||rs1601133145||1||EntrezGene||||||||TGCCTGGAGACGAC|TGCCTGGAGACGAC||||||||||||||pathogenic||1||||||
20 62311300 NM_001283009.2:c.1135+1G>A G A . . CSQ=A|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding||13/34||||||||rs1555903332||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1||||||,A|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||12/33||||||||rs1555903332||1||EntrezGene||||||||G|G|OK|||||||||||||pathogenic||1||||||,A|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding||13/34||||||||rs1555903332||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1||||||,A|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding||13/34||||||||rs1555903332||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1||||||,A|splice_donor_variant&non_coding_transcript_variant|HIGH|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA||13/37||||||||rs1555903332||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1||||||
20 62316877 NM_001283009.2:c.1194del TT T . . CSQ=-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|15/35||||1519|1194|398|I/X|atT/at|||1||EntrezGene||||||||T|T||||||||||||||||||||||,-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|14/34||||1742|525|175|I/X|atT/at|||1||EntrezGene||||||||T|T|OK|||||||||||||||||||||,-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|15/35||||1519|1194|398|I/X|atT/at|||1||EntrezGene||||||||T|T||||||||||||||||||||||,-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|15/35||||1591|1266|422|I/X|atT/at|||1||EntrezGene||||||||T|T||||||||||||||||||||||,-|splice_region_variant&non_coding_transcript_exon_variant|LOW|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|15/38||||2021|||||||1||EntrezGene||||||||T|T||||||||||||||||||||||
20 62319099 NM_001283009.2:c.1458del CC C . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|17/35||||1783|1458|486|S/X|tcC/tc|COSV100541903||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|16/34||||2006|789|263|S/X|tcC/tc|COSV100541903||1||EntrezGene||||||||C|C|OK||||||||||||||1|1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|17/35||||1783|1458|486|S/X|tcC/tc|COSV100541903||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|17/35||||1855|1530|510|S/X|tcC/tc|COSV100541903||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|17/38||||2285|||||COSV100541903||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||
20 62319118 NM_001283009.2:c.1476G>T G T . . CSQ=T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|17/35||||1801|1476|492|M/I|atG/atT|rs370343781&CM131749||1||EntrezGene||||||||G|G||deleterious(0.02)|benign(0.109)||4.878e-05|0|0|0.000912|0|0|0|0.0002051|0|pathogenic&likely_pathogenic||1&1|23453664&19461895&23959892|||||,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|16/34||||2024|807|269|M/I|atG/atT|rs370343781&CM131749||1||EntrezGene||||||||G|G|OK|deleterious(0)|benign(0.065)||4.878e-05|0|0|0.000912|0|0|0|0.0002051|0|pathogenic&likely_pathogenic||1&1|23453664&19461895&23959892|||||,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|17/35||||1801|1476|492|M/I|atG/atT|rs370343781&CM131749||1||EntrezGene||||||||G|G||deleterious(0.02)|benign(0.065)||4.878e-05|0|0|0.000912|0|0|0|0.0002051|0|pathogenic&likely_pathogenic||1&1|23453664&19461895&23959892|||||,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|17/35||||1873|1548|516|M/I|atG/atT|rs370343781&CM131749||1||EntrezGene||||||||G|G||deleterious(0.02)|possibly_damaging(0.709)||4.878e-05|0|0|0.000912|0|0|0|0.0002051|0|pathogenic&likely_pathogenic||1&1|23453664&19461895&23959892|||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|17/38||||2303|||||rs370343781&CM131749||1||EntrezGene||||||||G|G|||||4.878e-05|0|0|0.000912|0|0|0|0.0002051|0|pathogenic&likely_pathogenic||1&1|23453664&19461895&23959892|||||
20 62319289 NM_001283009.2:c.1482-1G>A G A . . CSQ=A|splice_acceptor_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding||17/34||||||||rs863225129&CS150587&COSV58893789||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic|0&0&1|1&1&1|25607374|||||,A|splice_acceptor_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||16/33||||||||rs863225129&CS150587&COSV58893789||1||EntrezGene||||||||G|G|OK|||||||||||||pathogenic&likely_pathogenic|0&0&1|1&1&1|25607374|||||,A|splice_acceptor_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding||17/34||||||||rs863225129&CS150587&COSV58893789||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic|0&0&1|1&1&1|25607374|||||,A|splice_acceptor_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding||17/34||||||||rs863225129&CS150587&COSV58893789||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic|0&0&1|1&1&1|25607374|||||,A|splice_acceptor_variant&non_coding_transcript_variant|HIGH|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA||17/37||||||||rs863225129&CS150587&COSV58893789||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic|0&0&1|1&1&1|25607374|||||
20 62319354 NM_001283009.2:c.1546G>C G C . . CSQ=C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|18/35||||1871|1546|516|V/L|Gtc/Ctc|rs748223349&COSV100542612||1||EntrezGene||||||||G|G||tolerated(0.28)|benign(0.063)|||||||||||pathogenic|0&1|1&1|25607374|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|17/34||||2094|877|293|V/L|Gtc/Ctc|rs748223349&COSV100542612||1||EntrezGene||||||||G|G|OK|tolerated(0.24)|benign(0.053)|||||||||||pathogenic|0&1|1&1|25607374|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|18/35||||1871|1546|516|V/L|Gtc/Ctc|rs748223349&COSV100542612||1||EntrezGene||||||||G|G||tolerated(0.38)|benign(0.053)|||||||||||pathogenic|0&1|1&1|25607374|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|18/35||||1943|1618|540|V/L|Gtc/Ctc|rs748223349&COSV100542612||1||EntrezGene||||||||G|G||tolerated(0.37)|benign(0.114)|||||||||||pathogenic|0&1|1&1|25607374|||||,C|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|18/38||||2373|||||rs748223349&COSV100542612||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&1|1&1|25607374|||||
20 62319499 NM_001283009.2:c.1603G>T G T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|19/35||||1928|1603|535|E/*|Gag/Tag|COSV58900891||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|18/34||||2151|934|312|E/*|Gag/Tag|COSV58900891||1||EntrezGene||||||||G|G|OK||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|19/35||||1928|1603|535|E/*|Gag/Tag|COSV58900891||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|19/35||||2000|1675|559|E/*|Gag/Tag|COSV58900891||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|19/38||||2430|||||COSV58900891||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||
20 62319502 NM_001283009.2:c.1606G>T G T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|19/35||||1931|1606|536|E/*|Gag/Tag|COSV100542714||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|18/34||||2154|937|313|E/*|Gag/Tag|COSV100542714||1||EntrezGene||||||||G|G|OK||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|19/35||||1931|1606|536|E/*|Gag/Tag|COSV100542714||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|19/35||||2003|1678|560|E/*|Gag/Tag|COSV100542714||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|19/38||||2433|||||COSV100542714||1||EntrezGene||||||||G|G|||||||||||||||1|1||||||
20 62319514 NM_001283009.2:c.1618T>G T G . . CSQ=G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|19/35||||1943|1618|540|S/A|Tcc/Gcc|rs863225130&CM150588||1||EntrezGene||||||||T|T||deleterious(0.04)|benign(0.108)|||||||||||pathogenic||1&1|25607374|||||,G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|18/34||||2166|949|317|S/A|Tcc/Gcc|rs863225130&CM150588||1||EntrezGene||||||||T|T|OK|deleterious(0.01)|possibly_damaging(0.566)|||||||||||pathogenic||1&1|25607374|||||,G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|19/35||||1943|1618|540|S/A|Tcc/Gcc|rs863225130&CM150588||1||EntrezGene||||||||T|T||deleterious(0.04)|possibly_damaging(0.566)|||||||||||pathogenic||1&1|25607374|||||,G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|19/35||||2015|1690|564|S/A|Tcc/Gcc|rs863225130&CM150588||1||EntrezGene||||||||T|T||deleterious(0.04)|benign(0.395)|||||||||||pathogenic||1&1|25607374|||||,G|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|19/38||||2445|||||rs863225130&CM150588||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|25607374|||||
20 62319931 NM_001283009.2:c.1773G>T G T . . CSQ=T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|21/35||||2098|1773|591|E/D|gaG/gaT|rs398123051&CM132874||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.992)|||||||||||pathogenic||1&1|23329068|||||,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|20/34||||2321|1104|368|E/D|gaG/gaT|rs398123051&CM132874||1||EntrezGene||||||||G|G|OK|deleterious(0)|probably_damaging(0.998)|||||||||||pathogenic||1&1|23329068|||||,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|21/35||||2098|1773|591|E/D|gaG/gaT|rs398123051&CM132874||1||EntrezGene||||||||G|G||deleterious(0.01)|probably_damaging(0.998)|||||||||||pathogenic||1&1|23329068|||||,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|21/35||||2170|1845|615|E/D|gaG/gaT|rs398123051&CM132874||1||EntrezGene||||||||G|G||deleterious(0.01)|probably_damaging(0.994)|||||||||||pathogenic||1&1|23329068|||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|21/38||||2600|||||rs398123051&CM132874||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|23329068|||||
20 62320468 NM_001283009.2:c.1861G>A G A . . CSQ=A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|22/35||||2186|1861|621|A/T|Gcg/Acg|rs398123052&CM132875||1||EntrezGene||||||||G|G||deleterious(0.03)|probably_damaging(0.944)|||||||||||pathogenic||1&1|23329068|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|21/34||||2409|1192|398|A/T|Gcg/Acg|rs398123052&CM132875||1||EntrezGene||||||||G|G|OK|deleterious(0)|probably_damaging(0.967)|||||||||||pathogenic||1&1|23329068|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|22/35||||2186|1861|621|A/T|Gcg/Acg|rs398123052&CM132875||1||EntrezGene||||||||G|G||deleterious(0.03)|probably_damaging(0.967)|||||||||||pathogenic||1&1|23329068|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|22/35||||2258|1933|645|A/T|Gcg/Acg|rs398123052&CM132875||1||EntrezGene||||||||G|G||deleterious(0.03)|probably_damaging(0.95)|||||||||||pathogenic||1&1|23329068|||||,A|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|22/38||||2688|||||rs398123052&CM132875||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|23329068|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001951272|CTCF_binding_site||||||||||rs398123052&CM132875|||||||||||||||||||||||||||pathogenic||1&1|23329068|||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522904511|||||||||||rs398123052&CM132875||1|||||||||||||||||||||||||pathogenic||1&1|23329068|ENSPFM0042|16|N|0.024|CTCF
20 62320981 NM_001283009.2:c.2005C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|23/35||||2330|2005|669|Q/*|Cag/Tag|rs1555811762&CM172980||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|25848748|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|22/34||||2553|1336|446|Q/*|Cag/Tag|rs1555811762&CM172980||1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1&1|25848748|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|23/35||||2330|2005|669|Q/*|Cag/Tag|rs1555811762&CM172980||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|25848748|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|23/35||||2402|2077|693|Q/*|Cag/Tag|rs1555811762&CM172980||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|25848748|||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|23/38||||2832|||||rs1555811762&CM172980||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|25848748|||||
20 62321115 NM_001283009.2:c.2038C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|24/35||||2363|2038|680|Q/*|Cag/Tag|COSV58897048||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|23/34||||2586|1369|457|Q/*|Cag/Tag|COSV58897048||1||EntrezGene||||||||C|C|OK||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|24/35||||2363|2038|680|Q/*|Cag/Tag|COSV58897048||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|24/35||||2435|2110|704|Q/*|Cag/Tag|COSV58897048||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|24/38||||2865|||||COSV58897048||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||
20 62321166 NM_001283009.2:c.2089C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|24/35||||2414|2089|697|R/*|Cga/Tga|rs768188490||1||EntrezGene||||||||C|C|||||8.101e-06|0|0|0|5.465e-05|0|9.031e-06|0|0|pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|23/34||||2637|1420|474|R/*|Cga/Tga|rs768188490||1||EntrezGene||||||||C|C|OK||||8.101e-06|0|0|0|5.465e-05|0|9.031e-06|0|0|pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|24/35||||2414|2089|697|R/*|Cga/Tga|rs768188490||1||EntrezGene||||||||C|C|||||8.101e-06|0|0|0|5.465e-05|0|9.031e-06|0|0|pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|24/35||||2486|2161|721|R/*|Cga/Tga|rs768188490||1||EntrezGene||||||||C|C|||||8.101e-06|0|0|0|5.465e-05|0|9.031e-06|0|0|pathogenic||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|24/38||||2916|||||rs768188490||1||EntrezGene||||||||C|C|||||8.101e-06|0|0|0|5.465e-05|0|9.031e-06|0|0|pathogenic||1||||||
20 62321174 NM_001283009.2:c.2097C>G C G . . CSQ=G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|24/35||||2422|2097|699|I/M|atC/atG|rs398123048&CM136893||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.99)|||||||||||pathogenic||1&1|23591994|||||,G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|23/34||||2645|1428|476|I/M|atC/atG|rs398123048&CM136893||1||EntrezGene||||||||C|C|OK|deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1|23591994|||||,G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|24/35||||2422|2097|699|I/M|atC/atG|rs398123048&CM136893||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1|23591994|||||,G|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|24/35||||2494|2169|723|I/M|atC/atG|rs398123048&CM136893||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1|23591994|||||,G|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|24/38||||2924|||||rs398123048&CM136893||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|23591994|||||
20 62321174 NM_001283009.2:c.2098del CC C . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|24/35||||2423|2098|700|R/X|Cgg/gg|COSV58899524||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|23/34||||2646|1429|477|R/X|Cgg/gg|COSV58899524||1||EntrezGene||||||||C|C|OK||||||||||||||1|1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|24/35||||2423|2098|700|R/X|Cgg/gg|COSV58899524||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|24/35||||2495|2170|724|R/X|Cgg/gg|COSV58899524||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|24/38||||2925|||||COSV58899524||1||EntrezGene||||||||C|C|||||||||||||||1|1||||||
20 62321516 NM_001283009.2:c.2219_2227del CATGTCATCC C . . CSQ=-|inframe_deletion|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|25/35||||2544-2552|2219-2227|740-743|HVIR/R|cATGTCATCCga/cga|||1||EntrezGene||||||||ATGTCATCC|ATGTCATCC||||||||||||||||||||||,-|inframe_deletion|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|24/34||||2767-2775|1550-1558|517-520|HVIR/R|cATGTCATCCga/cga|||1||EntrezGene||||||||ATGTCATCC|ATGTCATCC|OK|||||||||||||||||||||,-|inframe_deletion|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|25/35||||2544-2552|2219-2227|740-743|HVIR/R|cATGTCATCCga/cga|||1||EntrezGene||||||||ATGTCATCC|ATGTCATCC||||||||||||||||||||||,-|inframe_deletion|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|25/35||||2616-2624|2291-2299|764-767|HVIR/R|cATGTCATCCga/cga|||1||EntrezGene||||||||ATGTCATCC|ATGTCATCC||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|25/38||||3046-3054|||||||1||EntrezGene||||||||ATGTCATCC|ATGTCATCC||||||||||||||||||||||
20 62321520 NM_001283009.2:c.2223del TC T . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|25/35||||2548|2223|741|V/X|gtC/gt|||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|24/34||||2771|1554|518|V/X|gtC/gt|||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|25/35||||2548|2223|741|V/X|gtC/gt|||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|25/35||||2620|2295|765|V/X|gtC/gt|||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|25/38||||3050|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||
20 62321531 NM_001283009.2:c.2233G>A G A . . CSQ=A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|25/35||||2558|2233|745|V/M|Gtg/Atg|rs398123049&CM136894||1||EntrezGene||||||||G|G||deleterious(0.03)|possibly_damaging(0.661)|||||||||||pathogenic||1&1|23591994|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|24/34||||2781|1564|522|V/M|Gtg/Atg|rs398123049&CM136894||1||EntrezGene||||||||G|G|OK|deleterious(0.02)|benign(0.241)|||||||||||pathogenic||1&1|23591994|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|25/35||||2558|2233|745|V/M|Gtg/Atg|rs398123049&CM136894||1||EntrezGene||||||||G|G||deleterious(0.03)|benign(0.241)|||||||||||pathogenic||1&1|23591994|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|25/35||||2630|2305|769|V/M|Gtg/Atg|rs398123049&CM136894||1||EntrezGene||||||||G|G||deleterious(0.03)|probably_damaging(0.982)|||||||||||pathogenic||1&1|23591994|||||,A|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|25/38||||3060|||||rs398123049&CM136894||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|23591994|||||
20 62321558 NM_001283009.2:c.2260C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|25/35||||2585|2260|754|R/*|Cga/Tga|rs377024903||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|24/34||||2808|1591|531|R/*|Cga/Tga|rs377024903||1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|25/35||||2585|2260|754|R/*|Cga/Tga|rs377024903||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|25/35||||2657|2332|778|R/*|Cga/Tga|rs377024903||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|25/38||||3087|||||rs377024903||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||
20 62321795 NM_001283009.2:c.2413+1G>C G C . . CSQ=C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding||26/34||||||||rs776744306&CS150589||1||EntrezGene||||||||G|G||||||||||||||likely_pathogenic&pathogenic||1&1|25607374|||||,C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||25/33||||||||rs776744306&CS150589||1||EntrezGene||||||||G|G|OK|||||||||||||likely_pathogenic&pathogenic||1&1|25607374|||||,C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding||26/34||||||||rs776744306&CS150589||1||EntrezGene||||||||G|G||||||||||||||likely_pathogenic&pathogenic||1&1|25607374|||||,C|splice_donor_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding||26/34||||||||rs776744306&CS150589||1||EntrezGene||||||||G|G||||||||||||||likely_pathogenic&pathogenic||1&1|25607374|||||,C|splice_donor_variant&non_coding_transcript_variant|HIGH|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA||26/37||||||||rs776744306&CS150589||1||EntrezGene||||||||G|G||||||||||||||likely_pathogenic&pathogenic||1&1|25607374|||||
20 62322205 NM_001283009.2:c.2461G>T G T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|27/35||||2786|2461|821|E/*|Gag/Tag|||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|26/34||||3009|1792|598|E/*|Gag/Tag|||1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|27/35||||2786|2461|821|E/*|Gag/Tag|||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|27/35||||2858|2533|845|E/*|Gag/Tag|||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|27/38||||3288|||||||1||EntrezGene||||||||G|G||||||||||||||||||||||
20 62322229 NM_001283009.2:c.2485C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|27/35||||2810|2485|829|Q/*|Cag/Tag|rs1278121916||1||EntrezGene||||||||C|C|||||4.541e-06|0|0|0|5.887e-05|0|0|0|0|pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|26/34||||3033|1816|606|Q/*|Cag/Tag|rs1278121916||1||EntrezGene||||||||C|C|OK||||4.541e-06|0|0|0|5.887e-05|0|0|0|0|pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|27/35||||2810|2485|829|Q/*|Cag/Tag|rs1278121916||1||EntrezGene||||||||C|C|||||4.541e-06|0|0|0|5.887e-05|0|0|0|0|pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|27/35||||2882|2557|853|Q/*|Cag/Tag|rs1278121916||1||EntrezGene||||||||C|C|||||4.541e-06|0|0|0|5.887e-05|0|0|0|0|pathogenic||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|27/38||||3312|||||rs1278121916||1||EntrezGene||||||||C|C|||||4.541e-06|0|0|0|5.887e-05|0|0|0|0|pathogenic||1||||||
20 62322298 NM_001283009.2:c.2554C>T C T . . CSQ=T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|27/35||||2879|2554|852|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|26/34||||3102|1885|629|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|27/35||||2879|2554|852|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|27/35||||2951|2626|876|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|27/38||||3381|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||
20 62323152 NM_001283009.2:c.2614C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|28/35||||2939|2614|872|R/*|Cga/Tga|rs961593162&COSV58894003||1||EntrezGene||||||||C|C|||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|27/34||||3162|1945|649|R/*|Cga/Tga|rs961593162&COSV58894003||1||EntrezGene||||||||C|C|OK||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs961593162&COSV58894003|4853|1||EntrezGene||||||||C|C|||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|28/35||||2939|2614|872|R/*|Cga/Tga|rs961593162&COSV58894003||1||EntrezGene||||||||C|C|||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|28/35||||3011|2686|896|R/*|Cga/Tga|rs961593162&COSV58894003||1||EntrezGene||||||||C|C|||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|28/38||||3441|||||rs961593162&COSV58894003||1||EntrezGene||||||||C|C|||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001951273|CTCF_binding_site||||||||||rs961593162&COSV58894003||||||||||||||||||8.046e-06|0|0|0|0|0|8.978e-06|0.000164|0|pathogenic/likely_pathogenic&likely_pathogenic|0&1|1&1||||||
20 62324158 NM_001283009.2:c.2653G>T G T . . CSQ=T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|29/35||||2978|2653|885|E/*|Gag/Tag|||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|28/34||||3201|1984|662|E/*|Gag/Tag|||1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||3847|1||EntrezGene||||||||G|G||||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|29/35||||2978|2653|885|E/*|Gag/Tag|||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|stop_gained&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|29/35||||3050|2725|909|E/*|Gag/Tag|||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|29/38||||3480|||||||1||EntrezGene||||||||G|G||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001228653|CTCF_binding_site|||||||||||||||||||||||||||||||||||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522737027|||||||||||||-1|||||||||||||||||||||||||||||ENSPFM0042|8|N|-0.037|CTCF,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00526641481|||||||||||||1|||||||||||||||||||||||||||||ENSPFM0409|10|N|0.040|NFATC1
20 62324230 NM_001283009.2:c.2725C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|29/35||||3050|2725|909|Q/*|Caa/Taa|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|28/34||||3273|2056|686|Q/*|Caa/Taa|||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||3775|1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|29/35||||3050|2725|909|Q/*|Caa/Taa|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|29/35||||3122|2797|933|Q/*|Caa/Taa|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|29/38||||3552|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001228653|CTCF_binding_site|||||||||||||||||||||||||||||||||||||||||||||
20 62324316 NM_001283009.2:c.2812del CC C . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|29/35||||3137|2812|938|L/X|Ctc/tc|||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|28/34||||3360|2143|715|L/X|Ctc/tc|||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||3688|1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|29/35||||3137|2812|938|L/X|Ctc/tc|||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|29/35||||3209|2884|962|L/X|Ctc/tc|||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|29/38||||3639|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001228653|CTCF_binding_site|||||||||||||||||||||||||||||||||||||||||||||
20 62324354 NM_001283009.2:c.2850del AA A . . CSQ=-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|29/35||||3175|2850|950|Q/X|caA/ca|||1||EntrezGene||||||||A|A||||||||||||||||||||||,-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|28/34||||3398|2181|727|Q/X|caA/ca|||1||EntrezGene||||||||A|A|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||3650|1||EntrezGene||||||||A|A||||||||||||||||||||||,-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|29/35||||3175|2850|950|Q/X|caA/ca|||1||EntrezGene||||||||A|A||||||||||||||||||||||,-|frameshift_variant&splice_region_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|29/35||||3247|2922|974|Q/X|caA/ca|||1||EntrezGene||||||||A|A||||||||||||||||||||||,-|splice_region_variant&non_coding_transcript_exon_variant|LOW|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|29/38||||3677|||||||1||EntrezGene||||||||A|A||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001228653|CTCF_binding_site|||||||||||||||||||||||||||||||||||||||||||||
20 62324564 NM_001283009.2:c.2920C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|30/35||||3245|2920|974|R/*|Cga/Tga|rs398123017&CM131750||1||EntrezGene||||||||C|C|||||3.209e-05|0|2.897e-05|0|0|0|6.248e-05|0|0|pathogenic||1&1|25607374&23453664&23959892&23329068|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|29/34||||3468|2251|751|R/*|Cga/Tga|rs398123017&CM131750||1||EntrezGene||||||||C|C|OK||||3.209e-05|0|2.897e-05|0|0|0|6.248e-05|0|0|pathogenic||1&1|25607374&23453664&23959892&23329068|||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs398123017&CM131750|3441|1||EntrezGene||||||||C|C|||||3.209e-05|0|2.897e-05|0|0|0|6.248e-05|0|0|pathogenic||1&1|25607374&23453664&23959892&23329068|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|30/35||||3245|2920|974|R/*|Cga/Tga|rs398123017&CM131750||1||EntrezGene||||||||C|C|||||3.209e-05|0|2.897e-05|0|0|0|6.248e-05|0|0|pathogenic||1&1|25607374&23453664&23959892&23329068|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|30/35||||3317|2992|998|R/*|Cga/Tga|rs398123017&CM131750||1||EntrezGene||||||||C|C|||||3.209e-05|0|2.897e-05|0|0|0|6.248e-05|0|0|pathogenic||1&1|25607374&23453664&23959892&23329068|||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|30/38||||3747|||||rs398123017&CM131750||1||EntrezGene||||||||C|C|||||3.209e-05|0|2.897e-05|0|0|0|6.248e-05|0|0|pathogenic||1&1|25607374&23453664&23959892&23329068|||||
20 62324575 NM_001283009.2:c.2932_2944del CTATCGGCCTGAGC C . . CSQ=-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|30/35||||3257-3269|2932-2944|978-982|YRPEH/X|TATCGGCCTGAGCac/ac|||1||EntrezGene||||||||TATCGGCCTGAGC|TATCGGCCTGAGC||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|29/34||||3480-3492|2263-2275|755-759|YRPEH/X|TATCGGCCTGAGCac/ac|||1||EntrezGene||||||||TATCGGCCTGAGC|TATCGGCCTGAGC|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||3417|1||EntrezGene||||||||TATCGGCCTGAGC|TATCGGCCTGAGC||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|30/35||||3257-3269|2932-2944|978-982|YRPEH/X|TATCGGCCTGAGCac/ac|||1||EntrezGene||||||||TATCGGCCTGAGC|TATCGGCCTGAGC||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|30/35||||3329-3341|3004-3016|1002-1006|YRPEH/X|TATCGGCCTGAGCac/ac|||1||EntrezGene||||||||TATCGGCCTGAGC|TATCGGCCTGAGC||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|30/38||||3759-3771|||||||1||EntrezGene||||||||TATCGGCCTGAGC|TATCGGCCTGAGC||||||||||||||||||||||
20 62324600 NM_032957.4:c.3028C>T C T . . CSQ=T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|30/35||||3281|2956|986|R/*|Cga/Tga|rs373740199&CM132873||1||EntrezGene||||||||C|C|||||7.241e-05|6.22e-05|5.795e-05|0|0|0.0003241|6.283e-05|0.0001646|0|pathogenic/likely_pathogenic&pathogenic||1&1|25741868&25326637&23329068|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|29/34||||3504|2287|763|R/*|Cga/Tga|rs373740199&CM132873||1||EntrezGene||||||||C|C|OK||||7.241e-05|6.22e-05|5.795e-05|0|0|0.0003241|6.283e-05|0.0001646|0|pathogenic/likely_pathogenic&pathogenic||1&1|25741868&25326637&23329068|||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs373740199&CM132873|3405|1||EntrezGene||||||||C|C|||||7.241e-05|6.22e-05|5.795e-05|0|0|0.0003241|6.283e-05|0.0001646|0|pathogenic/likely_pathogenic&pathogenic||1&1|25741868&25326637&23329068|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|30/35||||3281|2956|986|R/*|Cga/Tga|rs373740199&CM132873||1||EntrezGene||||||||C|C|||||7.241e-05|6.22e-05|5.795e-05|0|0|0.0003241|6.283e-05|0.0001646|0|pathogenic/likely_pathogenic&pathogenic||1&1|25741868&25326637&23329068|||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|30/35||||3353|3028|1010|R/*|Cga/Tga|rs373740199&CM132873||1||EntrezGene||||||||C|C|||||7.241e-05|6.22e-05|5.795e-05|0|0|0.0003241|6.283e-05|0.0001646|0|pathogenic/likely_pathogenic&pathogenic||1&1|25741868&25326637&23329068|||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|30/38||||3783|||||rs373740199&CM132873||1||EntrezGene||||||||C|C|||||7.241e-05|6.22e-05|5.795e-05|0|0|0.0003241|6.283e-05|0.0001646|0|pathogenic/likely_pathogenic&pathogenic||1&1|25741868&25326637&23329068|||||
20 62325775 NM_001283009.2:c.3043C>T C T . . CSQ=T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|31/35||||3368|3043|1015|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|30/34||||3591|2374|792|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||2230|1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|31/35||||3368|3043|1015|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|31/35||||3440|3115|1039|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|31/38||||3870|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA|||||||||||4225|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||
20 62325805 NM_001283009.2:c.3074_3096del GGCAGGCCCCACCTGTCGCCCAGG G . . CSQ=-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|31/35||||3399-3421|3074-3096|1025-1032|GRPHLSPR/X|gGCAGGCCCCACCTGTCGCCCAGG/g|||1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|30/34||||3622-3644|2405-2427|802-809|GRPHLSPR/X|gGCAGGCCCCACCTGTCGCCCAGG/g|||1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||2177|1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|31/35||||3399-3421|3074-3096|1025-1032|GRPHLSPR/X|gGCAGGCCCCACCTGTCGCCCAGG/g|||1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|31/35||||3471-3493|3146-3168|1049-1056|GRPHLSPR/X|gGCAGGCCCCACCTGTCGCCCAGG/g|||1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|31/38||||3901-3923|||||||1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA|||||||||||4172|-1||EntrezGene||||||||GCAGGCCCCACCTGTCGCCCAGG|GCAGGCCCCACCTGTCGCCCAGG|OK|||||||||||||||||||||
20 62326114 NM_001283009.2:c.3130C>T C T . . CSQ=T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|32/35||||3455|3130|1044|Q/*|Cag/Tag|rs1415449695||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|31/34||||3678|2461|821|Q/*|Cag/Tag|rs1415449695||1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs1415449695|1891|1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|32/35||||3455|3130|1044|Q/*|Cag/Tag|rs1415449695||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|32/35||||3527|3202|1068|Q/*|Cag/Tag|rs1415449695||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|32/38||||3957|||||rs1415449695||1||EntrezGene||||||||C|C||||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs1415449695|3886|-1||EntrezGene||||||||C|C|OK|||||||||||||likely_pathogenic||1||||||
20 62326121 NM_001283009.2:c.3138del GG G . . CSQ=-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|32/35||||3463|3138|1046|G/X|ggG/gg|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|31/34||||3686|2469|823|G/X|ggG/gg|||1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||1883|1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|32/35||||3463|3138|1046|G/X|ggG/gg|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|32/35||||3535|3210|1070|G/X|ggG/gg|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|32/38||||3965|||||||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA|||||||||||3878|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||
20 62326153 NM_001283009.2:c.3169C>T C T . . CSQ=T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|32/35||||3494|3169|1057|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|31/34||||3717|2500|834|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||1852|1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|32/35||||3494|3169|1057|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|32/35||||3566|3241|1081|Q/*|Cag/Tag|||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|32/38||||3996|||||||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA|||||||||||3847|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||
20 62326272 NM_001283009.2:c.3289del GG G . . CSQ=-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|32/35||||3614|3289|1097|A/X|Gct/ct|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|31/34||||3837|2620|874|A/X|Gct/ct|||1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding|||||||||||1732|1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|32/35||||3614|3289|1097|A/X|Gct/ct|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|32/35||||3686|3361|1121|A/X|Gct/ct|||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|32/38||||4116|||||||1||EntrezGene||||||||G|G||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA|||||||||||3727|-1||EntrezGene||||||||G|G|OK|||||||||||||||||||||
20 62326444 NM_001283009.2:c.3370del CC C . . CSQ=-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|33/35||||3695|3370|1124|H/X|Cac/ac|rs1555814400||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|32/34||||3918|2701|901|H/X|Cac/ac|rs1555814400||1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs1555814400|1560|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|33/35||||3695|3370|1124|H/X|Cac/ac|rs1555814400||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|33/35||||3767|3442|1148|H/X|Cac/ac|rs1555814400||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|33/38||||4197|||||rs1555814400||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs1555814400|3555|-1||EntrezGene||||||||C|C|OK|||||||||||||pathogenic||1||||||
20 62326446 NM_001283009.2:c.3371A>C A C . . CSQ=C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|33/35||||3696|3371|1124|H/P|cAc/cCc|rs786205702&CM154443&CM172983||1||EntrezGene||||||||A|A||deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1&1|25848748|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|32/34||||3919|2702|901|H/P|cAc/cCc|rs786205702&CM154443&CM172983||1||EntrezGene||||||||A|A|OK|deleterious(0)|probably_damaging(0.999)|||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs786205702&CM154443&CM172983|1559|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1&1|25848748|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_016434.4|protein_coding|33/35||||3696|3371|1124|H/P|cAc/cCc|rs786205702&CM154443&CM172983||1||EntrezGene||||||||A|A||deleterious(0)|probably_damaging(0.999)|||||||||||pathogenic||1&1&1|25848748|||||,C|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_032957.5|protein_coding|33/35||||3768|3443|1148|H/P|cAc/cCc|rs786205702&CM154443&CM172983||1||EntrezGene||||||||A|A||deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1&1|25848748|||||,C|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|33/38||||4198|||||rs786205702&CM154443&CM172983||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||,C|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs786205702&CM154443&CM172983|3554|-1||EntrezGene||||||||A|A|OK|||||||||||||pathogenic||1&1&1|25848748|||||
20 62326733 NM_001283009.2:c.3553del CC C . . CSQ=-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|34/35||||3878|3553|1185|L/X|Ctt/tt|rs1363124795||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_001283010.1|protein_coding|33/34||||4101|2884|962|L/X|Ctt/tt|rs1363124795||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs1363124795|1271|1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_016434.4|protein_coding|34/35||||3878|3553|1185|L/X|Ctt/tt|rs1363124795||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|RTEL1|51750|Transcript|NM_032957.5|protein_coding|34/35||||3950|3625|1209|L/X|Ctt/tt|rs1363124795||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|34/38||||4380|||||rs1363124795||1||EntrezGene||||||||C|C||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs1363124795|3266|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||
20 62326947 NM_001283009.2:c.3766C>T C T . . CSQ=T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|stop_gained|HIGH|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|34/35||||4091|3766|1256|Q/*|Cag/Tag|rs1385101139||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||33/33||||||||rs1385101139||1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs1385101139|1058|1||EntrezGene||||||||C|C||||||||||||||||||||||,T|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_016434.4|protein_coding||34/34||||||||rs1385101139||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_032957.5|protein_coding||34/34||||||||rs1385101139||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|34/38||||4593|||||rs1385101139||1||EntrezGene||||||||C|C||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs1385101139|3053|-1||EntrezGene||||||||C|C|OK|||||||||||||||||||||
20 62326972 NM_001283009.1:c.3791G>A G A . . CSQ=A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|34/35||||4116|3791|1264|R/H|cGc/cAc|rs201540674&CM133341||1||EntrezGene||||||||G|G||tolerated_low_confidence(0.16)|possibly_damaging(0.809)||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||33/33||||||||rs201540674&CM133341||1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs201540674&CM133341|1033|1||EntrezGene||||||||G|G|||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_016434.4|protein_coding||34/34||||||||rs201540674&CM133341||1||EntrezGene||||||||G|G|||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_032957.5|protein_coding||34/34||||||||rs201540674&CM133341||1||EntrezGene||||||||G|G|||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|34/38||||4618|||||rs201540674&CM133341||1||EntrezGene||||||||G|G|||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||,A|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs201540674&CM133341|3028|-1||EntrezGene||||||||G|G|OK||||0.0001577|0|0|0.003419|0|0|4.492e-05|0|0|pathogenic&pathogenic/likely_pathogenic&likely_pathogenic||1&1|25607374&23453664&25047097&25099625&25620558&26025130&24009516|||||
3 169482439 NR_001566.1:n.410C>G G C . . CSQ=C|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422286|2270|-1||EntrezGene||||||||C|C||||||||||||||||1|20301779&29138457|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||410|||||rs199422286||-1||EntrezGene||||||||C|C||||||||||||||||1|20301779&29138457|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422286|||||||||||||||||||||||||||||1|20301779&29138457|||||
3 169482441 NR_001566.1:n.407_408delinsAA GA TT . . CSQ=TT|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs1553915580|2267|-1||EntrezGene||||||||TC|TC||||||||||||||||1||||||,TT|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||407-408|||||rs1553915580||-1||EntrezGene||||||||TC|TC||||||||||||||||1||||||,TT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs1553915580|||||||||||||||||||||||||||||1||||||
3 169482441 NR_001566.1:n.408C>G G C . . CSQ=C|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422284&CR015303|2268|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&11574891|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||408|||||rs199422284&CR015303||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&11574891|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422284&CR015303|||||||||||||||||||||||||||||1&1|20301779&11574891|||||
3 169482456 NR_001566.1:n.391_392del CGG C . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422283|2251|-1||EntrezGene||||||||CC|CC||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||391-392|||||rs199422283||-1||EntrezGene||||||||CC|CC||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422283|||||||||||||||||||||||||||pathogenic||1|20301779|||||
3 169482524 NR_001566.1:n.325G>T C A . . CSQ=A|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||CR088366|2185|-1||EntrezGene||||||||G|G||||||||||||||||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||325|||||CR088366||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||CR088366|||||||||||||||||||||||||||||1||||||
3 169482526 NR_001566.1:n.323C>T G A . . CSQ=A|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422281&CR080775|2183|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||323|||||rs199422281&CR080775||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422281&CR080775|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482527 NR_001566.1:n.322G>A C T . . CSQ=T|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422280&CR034847|2182|-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||322|||||rs199422280&CR034847||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422280&CR034847|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482544 NR_001566.1:n.305G>A C T . . CSQ=T|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422279&CR034846|2165|-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||305|||||rs199422279&CR034846||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422279&CR034846|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482619 NR_001566.1:n.216_229del GGCAGGCGACCCGCC G . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422278|2076|-1||EntrezGene||||||||GGCGGGTCGCCTGC|GGCGGGTCGCCTGC||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||216-229|||||rs199422278||-1||EntrezGene||||||||GGCGGGTCGCCTGC|GGCGGGTCGCCTGC||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422278|||||||||||||||||||||||||||pathogenic||1|20301779|||||
3 169482637 NR_001566.1:n.212C>G G C . . CSQ=C|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||CR096692|2072|-1||EntrezGene||||||||C|C||||||||||||||||1||||||,C|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||212|||||CR096692||-1||EntrezGene||||||||C|C||||||||||||||||1||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||CR096692|||||||||||||||||||||||||||||1||||||
3 169482645 NR_001566.1:n.204C>G G C . . CSQ=C|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422277&CR034845|2064|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&21436073&14630445|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||204|||||rs199422277&CR034845||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&21436073&14630445|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422277&CR034845|||||||||||||||||||||||||||||1&1|20301779&21436073&14630445|||||
3 169482669 NR_001566.1:n.180C>T G A . . CSQ=A|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422276&CR076719|2040|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||180|||||rs199422276&CR076719||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422276&CR076719|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482671 NR_001566.1:n.178G>A C T . . CSQ=T|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422275&CR076720|2038|-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||178|||||rs199422275&CR076720||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422275&CR076720|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482706 NR_001566.1:n.143G>A C T . . CSQ=T|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422274&CR041559|2003|-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||143|||||rs199422274&CR041559||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422274&CR041559|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482725 NR_001566.1:n.109_123del CGCCCGCTGAAAGTCA C . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs886039656|1969|-1||EntrezGene||||||||TGACTTTCAGCGGGC|TGACTTTCAGCGGGC||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||109-123|||||rs886039656||-1||EntrezGene||||||||TGACTTTCAGCGGGC|TGACTTTCAGCGGGC||||||||||||||pathogenic||1||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs886039656|||||||||||||||||||||||||||pathogenic||1||||||
3 169482732 NR_001566.1:n.117A>C T G . . CSQ=G|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422273&CR057475|1977|-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&29138457|||||,G|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||117|||||rs199422273&CR057475||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&29138457|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422273&CR057475|||||||||||||||||||||||||||||1&1|20301779&29138457|||||
3 169482735 NR_001566.1:n.110_113del AAGTC A . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422270|1970|-1||EntrezGene||||||||GACT|GACT||||||||||||||likely_pathogenic&pathogenic||1|20301779&12090986|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||110-113|||||rs199422270||-1||EntrezGene||||||||GACT|GACT||||||||||||||likely_pathogenic&pathogenic||1|20301779&12090986|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422270|||||||||||||||||||||||||||likely_pathogenic&pathogenic||1|20301779&12090986|||||
3 169482741 NR_001566.1:n.107_108delinsAG GC CT . . CSQ=CT|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199476393|1967|-1||EntrezGene||||||||GC|GC||||||||||||||||1|20301779&11574891|||||,CT|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||107-108|||||rs199476393||-1||EntrezGene||||||||GC|GC||||||||||||||||1|20301779&11574891|||||,CT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199476393|||||||||||||||||||||||||||||1|20301779&11574891|||||
3 169482742 NR_001566.1:n.107G>T C A . . CSQ=A|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs1553915617&CR117577|1967|-1||EntrezGene||||||||G|G||||||||||||||||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||107|||||rs1553915617&CR117577||-1||EntrezGene||||||||G|G||||||||||||||||1&1||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs1553915617&CR117577|||||||||||||||||||||||||||||1&1||||||
3 169482749 NR_001566.1:n.100T>A A T . . CSQ=T|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422269&CR090169|1960|-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||100|||||rs199422269&CR090169||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422269&CR090169|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482751 NR_001566.1:n.96_97del CAG C . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422267|1956|-1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||96-97|||||rs199422267||-1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422267|||||||||||||||||||||||||||pathogenic||1|20301779|||||
3 169482751 NR_001566.1:n.98G>A C T . . CSQ=T|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422268&CR072326|1958|-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&17392301|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||98|||||rs199422268&CR072326||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&17392301|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422268&CR072326|||||||||||||||||||||||||||||1&1|20301779&17392301|||||
3 169482761 NR_001566.1:n.53_87del GGAGCAAAAGCACGGCGCCTACGCCCTTCTCAGTTA G . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422264|1913|-1||EntrezGene||||||||TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC|TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||53-87|||||rs199422264||-1||EntrezGene||||||||TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC|TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422264|||||||||||||||||||||||||||pathogenic||1|20301779|||||
3 169482769 NR_001566.1:n.79del AG A . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422266|1939|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||79|||||rs199422266||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422266|||||||||||||||||||||||||||pathogenic||1|20301779|||||
3 169482777 NR_001566.1:n.72C>G G C . . CSQ=C|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422265&CR024561|1932|-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&12090986|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||72|||||rs199422265&CR024561||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779&12090986|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422265&CR024561|||||||||||||||||||||||||||||1&1|20301779&12090986|||||
3 169482779 NR_001566.1:n.69_74dup C CGCGCCT . . CSQ=GCGCCT|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding|||||||||||1929|-1||EntrezGene|||||||||||||||||||||||||||||||,GCGCCT|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||69-70|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,GCGCCT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter|||||||||||||||||||||||||||||||||||||||||||||
3 169482781 NR_001566.1:n.67del AC A . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||CR117572|1927|-1||EntrezGene||||||||G|G||||||||||||||||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||67|||||CR117572||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||CR117572|||||||||||||||||||||||||||||1||||||
3 169482791 NR_001566.1:n.54_57del CAGTT C . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422263|1914|-1||EntrezGene||||||||AACT|AACT||||||||||||||likely_pathogenic||1|20301779&22341970|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||54-57|||||rs199422263||-1||EntrezGene||||||||AACT|AACT||||||||||||||likely_pathogenic||1|20301779&22341970|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422263|||||||||||||||||||||||||||likely_pathogenic||1|20301779&22341970|||||
3 169482801 NR_001566.1:n.48A>G T C . . CSQ=C|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422262&CR062119|1908|-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||48|||||rs199422262&CR062119||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422262&CR062119|||||||||||||||||||||||||||||1&1|20301779|||||
3 169482814 NR_001566.1:n.28_34del GCCACCAC G . . CSQ=-|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422259|1888|-1||EntrezGene||||||||GTGGTGG|GTGGTGG||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||28-34|||||rs199422259||-1||EntrezGene||||||||GTGGTGG|GTGGTGG||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422259|||||||||||||||||||||||||||pathogenic||1|20301779|||||
3 169482847 NR_001566.1:n.2G>C C G . . CSQ=G|downstream_gene_variant|MODIFIER|ACTRT3|84517|Transcript|NM_032487.5|protein_coding||||||||||rs199422257&CR080776|1862|-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|TERC|7012|Transcript|NR_001566.1|telomerase_RNA|1/1||||2|||||rs199422257&CR080776||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000161537|promoter||||||||||rs199422257&CR080776|||||||||||||||||||||||||||||1&1|20301779|||||
5 1253896 NM_198253.3:c.3346G>C C G . . CSQ=G|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|15/15||||3236|3157|1053|E/Q|Gag/Cag|rs1196160200&CM116664||-1||EntrezGene||||||||G|G||deleterious(0.04)|benign(0.052)|||||||||||||1&1||||||,G|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|16/16||||3425|3346|1116|E/Q|Gag/Cag|rs1196160200&CM116664||-1||EntrezGene||||||||G|G||deleterious(0.04)|possibly_damaging(0.635)|||||||||||||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|13/13||||3054|||||rs1196160200&CM116664||-1||EntrezGene||||||||G|G||||||||||||||||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|13/13||||3018|||||rs1196160200&CM116664||-1||EntrezGene||||||||G|G||||||||||||||||1&1||||||
5 1254542 NM_198253.3:c.3235del AG A . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|14/15||||3125|3046|1016|L/X|Ctg/tg|rs1270172263||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|15/16||||3314|3235|1079|L/X|Ctg/tg|rs1270172263||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|12/13||||2943|||||rs1270172263||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|12/13||||2907|||||rs1270172263||-1||EntrezGene||||||||C|C||||||||||||||||||||||
5 1254567 NM_198253.3:c.3211C>T G A . . CSQ=A|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|14/15||||3101|3022|1008|Q/*|Cag/Tag|COSV57223595||-1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|15/16||||3290|3211|1071|Q/*|Cag/Tag|COSV57223595||-1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|12/13||||2919|||||COSV57223595||-1||EntrezGene||||||||C|C|||||||||||||||1|1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|12/13||||2883|||||COSV57223595||-1||EntrezGene||||||||C|C|||||||||||||||1|1||||||
5 1255447 NM_198253.3:c.3110_3111del CAG C . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|13/15||||3000-3001|2921-2922|974|S/X|tCT/t|rs1554038257||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|14/16||||3189-3190|3110-3111|1037|S/X|tCT/t|rs1554038257||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|11/13||||2818-2819|||||rs1554038257||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|11/13||||2782-2783|||||rs1554038257||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001688048|promoter_flanking_region||||||||||rs1554038257|||||||||||||||||||||||||||||1||||||
5 1255516 NM_198253.3:c.3043T>C A G . . CSQ=G|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|13/15||||2933|2854|952|C/R|Tgt/Cgt|rs199422307&CM090171||-1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.999)|||||||||||||1&1|20301779|||||,G|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|14/16||||3122|3043|1015|C/R|Tgt/Cgt|rs199422307&CM090171||-1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.999)|||||||||||||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|11/13||||2751|||||rs199422307&CM090171||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|11/13||||2715|||||rs199422307&CM090171||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001688048|promoter_flanking_region||||||||||rs199422307&CM090171|||||||||||||||||||||||||||||1&1|20301779|||||
5 1258753 NM_198253.3:c.2991del AC A . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|12/15||||2881|2802|934|V/X|gtG/gt|rs1554038539&CD172943&COSV57216905||-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|13/16||||3070|2991|997|V/X|gtG/gt|rs1554038539&CD172943&COSV57216905||-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|10/13||||2699|||||rs1554038539&CD172943&COSV57216905||-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|10/13||||2663|||||rs1554038539&CD172943&COSV57216905||-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1||||||
5 1264523 NM_198253.3:c.2839T>C A G . . CSQ=G|intron_variant|MODIFIER|TERT|7015|Transcript|NM_001193376.3|protein_coding||10/14||||||||rs915854031||-1||EntrezGene||||||||T|T||||||||||||||||1||||||,G|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|11/16||||2918|2839|947|S/P|Tcc/Ccc|rs915854031||-1||EntrezGene||||||||T|T||deleterious(0.01)|possibly_damaging(0.794)|||||||||||||1||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||8/12||||||||rs915854031||-1||EntrezGene||||||||T|T||||||||||||||||1||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||8/12||||||||rs915854031||-1||EntrezGene||||||||T|T||||||||||||||||1||||||
5 1264656 NM_198253.3:c.2706G>C C G . . CSQ=G|intron_variant|MODIFIER|TERT|7015|Transcript|NM_001193376.3|protein_coding||10/14||||||||rs121918665&CM054141||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&16247010|||||,G|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|11/16||||2785|2706|902|K/N|aaG/aaC|rs121918665&CM054141||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)|||||||||||||1&1|20301779&16247010|||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||8/12||||||||rs121918665&CM054141||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&16247010|||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||8/12||||||||rs121918665&CM054141||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&16247010|||||
5 1264657 NM_198253.3:c.2705A>G T C . . CSQ=C|intron_variant|MODIFIER|TERT|7015|Transcript|NM_001193376.3|protein_coding||10/14||||||||rs387907250||-1||EntrezGene||||||||A|A||||||||||||||||1|21436073|||||,C|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|11/16||||2784|2705|902|K/R|aAg/aGg|rs387907250||-1||EntrezGene||||||||A|A||deleterious(0.04)|probably_damaging(0.999)|||||||||||||1|21436073|||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||8/12||||||||rs387907250||-1||EntrezGene||||||||A|A||||||||||||||||1|21436073|||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||8/12||||||||rs387907250||-1||EntrezGene||||||||A|A||||||||||||||||1|21436073|||||
5 1264658 NM_198253.3:c.2704A>T T A . . CSQ=A|intron_variant|MODIFIER|TERT|7015|Transcript|NM_001193376.3|protein_coding||10/14||||||||||-1||EntrezGene||||||||A|A||||||||||||||||||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|11/16||||2783|2704|902|K/*|Aag/Tag|||-1||EntrezGene||||||||A|A||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||8/12||||||||||-1||EntrezGene||||||||A|A||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||8/12||||||||||-1||EntrezGene||||||||A|A||||||||||||||||||||||
5 1266605 NM_198253.3:c.2628C>G G C . . CSQ=C|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|10/15||||2707|2628|876|H/Q|caC/caG|rs199422303&CM080569||-1||EntrezGene||||||||C|C||deleterious(0.03)|probably_damaging(0.974)|||||||||||||1&1|20301779|||||,C|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|10/16||||2707|2628|876|H/Q|caC/caG|rs199422303&CM080569||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|8/13||||2525|||||rs199422303&CM080569||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|8/13||||2489|||||rs199422303&CM080569||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||
5 1266634 NM_198253.2:c.2599G>A C T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|10/15||||2678|2599|867|V/M|Gtg/Atg|rs201159197&CM103165||-1||EntrezGene||||||||G|G||deleterious(0.01)|possibly_damaging(0.532)|||||||||||||1&1|21483807|||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|10/16||||2678|2599|867|V/M|Gtg/Atg|rs201159197&CM103165||-1||EntrezGene||||||||G|G||tolerated(0.09)|probably_damaging(0.984)|||||||||||||1&1|21483807|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|8/13||||2496|||||rs201159197&CM103165||-1||EntrezGene||||||||G|G||||||||||||||||1&1|21483807|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|8/13||||2460|||||rs201159197&CM103165||-1||EntrezGene||||||||G|G||||||||||||||||1&1|21483807|||||
5 1266652 NM_198253.3:c.2583-2A>C T G . . CSQ=G|splice_acceptor_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding||9/14||||||||rs111576740&CS072295||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&17392301|||||,G|splice_acceptor_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding||9/15||||||||rs111576740&CS072295||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&17392301|||||,G|splice_acceptor_variant&non_coding_transcript_variant|HIGH|TERT|7015|Transcript|NR_149162.3|misc_RNA||7/12||||||||rs111576740&CS072295||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&17392301|||||,G|splice_acceptor_variant&non_coding_transcript_variant|HIGH|TERT|7015|Transcript|NR_149163.3|misc_RNA||7/12||||||||rs111576740&CS072295||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&17392301|||||
5 1268676 NM_198253.3:c.2540dup G GC . . CSQ=C|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|9/15||||2619-2620|2540-2541|847|G/GX|ggc/ggGc|||-1||EntrezGene|||||||||||||||||||||||||||||||,C|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|9/16||||2619-2620|2540-2541|847|G/GX|ggc/ggGc|||-1||EntrezGene|||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|7/13||||2437-2438|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|7/13||||2401-2402|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001688050|enhancer|||||||||||||||||||||||||||||||||||||||||||||
5 1268680 NM_198253.3:c.2537A>G T C . . CSQ=C|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|9/15||||2616|2537|846|Y/C|tAc/tGc|rs199422302&CM080571||-1||EntrezGene||||||||A|A||deleterious(0.01)|probably_damaging(0.976)|||||||||||||1&1|20301779|||||,C|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|9/16||||2616|2537|846|Y/C|tAc/tGc|rs199422302&CM080571||-1||EntrezGene||||||||A|A||deleterious(0)|probably_damaging(0.99)|||||||||||||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|7/13||||2434|||||rs199422302&CM080571||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|7/13||||2398|||||rs199422302&CM080571||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001688050|enhancer||||||||||rs199422302&CM080571|||||||||||||||||||||||||||||1&1|20301779|||||
5 1272311 NM_198253.2:c.2371G>A C T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|7/15||||2450|2371|791|V/I|Gtc/Atc|rs141425941&CM1511719&COSV57215560||-1||EntrezGene||||||||G|G||tolerated(0.21)|benign(0.034)||8.977e-05|0|2.919e-05|0|0.0001122|0|0.0001534|0|6.628e-05||0&0&1|1&1&1|21483807|||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|7/16||||2450|2371|791|V/I|Gtc/Atc|rs141425941&CM1511719&COSV57215560||-1||EntrezGene||||||||G|G||tolerated(0.21)|possibly_damaging(0.503)||8.977e-05|0|2.919e-05|0|0.0001122|0|0.0001534|0|6.628e-05||0&0&1|1&1&1|21483807|||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||6/12||||||||rs141425941&CM1511719&COSV57215560||-1||EntrezGene||||||||G|G|||||8.977e-05|0|2.919e-05|0|0.0001122|0|0.0001534|0|6.628e-05||0&0&1|1&1&1|21483807|||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||6/12||||||||rs141425941&CM1511719&COSV57215560||-1||EntrezGene||||||||G|G|||||8.977e-05|0|2.919e-05|0|0.0001122|0|0.0001534|0|6.628e-05||0&0&1|1&1&1|21483807|||||
5 1272362 NM_198253.3:c.2320C>T G A . . CSQ=A|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|7/15||||2399|2320|774|R/*|Cga/Tga|rs770066110&COSV57198530&COSV99718890||-1||EntrezGene||||||||C|C|||||5.263e-05|0|0|0|0|0.0005157|8.947e-06|0.0001672|0||0&1&1|1&1&1||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|7/16||||2399|2320|774|R/*|Cga/Tga|rs770066110&COSV57198530&COSV99718890||-1||EntrezGene||||||||C|C|||||5.263e-05|0|0|0|0|0.0005157|8.947e-06|0.0001672|0||0&1&1|1&1&1||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||6/12||||||||rs770066110&COSV57198530&COSV99718890||-1||EntrezGene||||||||C|C|||||5.263e-05|0|0|0|0|0.0005157|8.947e-06|0.0001672|0||0&1&1|1&1&1||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||6/12||||||||rs770066110&COSV57198530&COSV99718890||-1||EntrezGene||||||||C|C|||||5.263e-05|0|0|0|0|0.0005157|8.947e-06|0.0001672|0||0&1&1|1&1&1||||||
5 1272367 NM_198253.3:c.2315A>G T C . . CSQ=C|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|7/15||||2394|2315|772|Y/C|tAc/tGc|rs121918663&CM054146||-1||EntrezGene||||||||A|A||deleterious(0.04)|probably_damaging(0.957)|||||||||||||1&1|20301779&15814878|||||,C|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|7/16||||2394|2315|772|Y/C|tAc/tGc|rs121918663&CM054146||-1||EntrezGene||||||||A|A||deleterious(0.05)|probably_damaging(0.979)|||||||||||||1&1|20301779&15814878|||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA||6/12||||||||rs121918663&CM054146||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&15814878|||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||6/12||||||||rs121918663&CM054146||-1||EntrezGene||||||||A|A||||||||||||||||1&1|20301779&15814878|||||
5 1278801 NM_198253.3:c.2240del GA G . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|6/15||||2319|2240|747|V/X|gTc/gc|rs199422300&CD072500||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&17460043|||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|6/16||||2319|2240|747|V/X|gTc/gc|rs199422300&CD072500||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&17460043|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|6/13||||2319|||||rs199422300&CD072500||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&17460043|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|6/13||||2283|||||rs199422300&CD072500||-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&17460043|||||
5 1278880 NM_198253.3:c.2162C>G G C . . CSQ=C|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|6/15||||2241|2162|721|P/R|cCc/cGc|rs199422299&CM067049&COSV57239429||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)||||||||||||0&0&1|1&1&1|20301779|||||,C|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|6/16||||2241|2162|721|P/R|cCc/cGc|rs199422299&CM067049&COSV57239429||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)||||||||||||0&0&1|1&1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|6/13||||2241|||||rs199422299&CM067049&COSV57239429||-1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||,C|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant&non_coding_transcript_variant|LOW|TERT|7015|Transcript|NR_149163.3|misc_RNA||5/12||||||||rs199422299&CM067049&COSV57239429||-1||EntrezGene||||||||C|C|||||||||||||||0&0&1|1&1&1|20301779|||||
5 1278896 NM_198253.3:c.2146G>A C T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|6/15||||2225|2146|716|A/T|Gcg/Acg|rs387907249&CM113502&COSV57221061||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.998)||||||||||||0&0&1|1&1&1|25741868&21436073&30203795|||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|6/16||||2225|2146|716|A/T|Gcg/Acg|rs387907249&CM113502&COSV57221061||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)||||||||||||0&0&1|1&1&1|25741868&21436073&30203795|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|6/13||||2225|||||rs387907249&CM113502&COSV57221061||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1|25741868&21436073&30203795|||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA||5/12||||||||rs387907249&CM113502&COSV57221061||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1|25741868&21436073&30203795|||||
5 1279438 NM_198253.3:c.2098C>T G A . . CSQ=A|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|5/15||||2177|2098|700|Q/*|Cag/Tag|rs878855300||-1||EntrezGene||||||||C|C||||||||||||||||1||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|5/16||||2177|2098|700|Q/*|Cag/Tag|rs878855300||-1||EntrezGene||||||||C|C||||||||||||||||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|5/13||||2177|||||rs878855300||-1||EntrezGene||||||||C|C||||||||||||||||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|5/13||||2177|||||rs878855300||-1||EntrezGene||||||||C|C||||||||||||||||1||||||
5 1279491 NM_198253.3:c.2045G>A C T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|5/15||||2124|2045|682|G/D|gGc/gAc|rs199422295&CM066608||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.999)||0|0|0|0|0|0|0|0|0|||1&1|20301779|||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|5/16||||2124|2045|682|G/D|gGc/gAc|rs199422295&CM066608||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)||0|0|0|0|0|0|0|0|0|||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|5/13||||2124|||||rs199422295&CM066608||-1||EntrezGene||||||||G|G|||||0|0|0|0|0|0|0|0|0|||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|5/13||||2124|||||rs199422295&CM066608||-1||EntrezGene||||||||G|G|||||0|0|0|0|0|0|0|0|0|||1&1|20301779|||||
5 1279507 NM_198253.3:c.2029G>T C A . . CSQ=A|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|5/15||||2108|2029|677|G/C|Ggc/Tgc|rs199422296||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)|||||||||||||1|20301779|||||,A|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|5/16||||2108|2029|677|G/C|Ggc/Tgc|rs199422296||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)|||||||||||||1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|5/13||||2108|||||rs199422296||-1||EntrezGene||||||||G|G||||||||||||||||1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|5/13||||2108|||||rs199422296||-1||EntrezGene||||||||G|G||||||||||||||||1|20301779|||||
5 1279532 NM_198253.3:c.2004G>C C G . . CSQ=G|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|5/15||||2083|2004|668|E/D|gaG/gaC|rs1554040964&CM137786||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.992)|||||||||||||1&1||||||,G|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|5/16||||2083|2004|668|E/D|gaG/gaC|rs1554040964&CM137786||-1||EntrezGene||||||||G|G||deleterious(0.01)|probably_damaging(0.996)|||||||||||||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|5/13||||2083|||||rs1554040964&CM137786||-1||EntrezGene||||||||G|G||||||||||||||||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|5/13||||2083|||||rs1554040964&CM137786||-1||EntrezGene||||||||G|G||||||||||||||||1&1||||||
5 1280331 NM_198253.3:c.1892G>A C T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|4/15||||1971|1892|631|R/Q|cGg/cAg|rs199422294&CM083181||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.994)|||||||||||||1&1|20301779&18460650|||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|4/16||||1971|1892|631|R/Q|cGg/cAg|rs199422294&CM083181||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.97)|||||||||||||1&1|20301779&18460650|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|4/13||||1971|||||rs199422294&CM083181||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&18460650|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|4/13||||1971|||||rs199422294&CM083181||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&18460650|||||
5 1280332 NM_198253.3:c.1891C>T G A . . CSQ=A|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|4/15||||1970|1891|631|R/W|Cgg/Tgg|rs1194223999&CM161387||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.999)||3.978e-06|0|0|0|0|0|8.798e-06|0|0|||1&1||||||,A|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|4/16||||1970|1891|631|R/W|Cgg/Tgg|rs1194223999&CM161387||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.996)||3.978e-06|0|0|0|0|0|8.798e-06|0|0|||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|4/13||||1970|||||rs1194223999&CM161387||-1||EntrezGene||||||||C|C|||||3.978e-06|0|0|0|0|0|8.798e-06|0|0|||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|4/13||||1970|||||rs1194223999&CM161387||-1||EntrezGene||||||||C|C|||||3.978e-06|0|0|0|0|0|8.798e-06|0|0|||1&1||||||
5 1280427 NM_198253.3:c.1796G>A C T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|4/15||||1875|1796|599|R/Q|cGg/cAg|rs372511089&CM150816&COSV99717552||-1||EntrezGene||||||||G|G||tolerated(0.12)|benign(0.141)||||||||||||0&0&1|1&1&1||||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|4/16||||1875|1796|599|R/Q|cGg/cAg|rs372511089&CM150816&COSV99717552||-1||EntrezGene||||||||G|G||tolerated(0.1)|benign(0.223)||||||||||||0&0&1|1&1&1||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|4/13||||1875|||||rs372511089&CM150816&COSV99717552||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|4/13||||1875|||||rs372511089&CM150816&COSV99717552||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1||||||
5 1282570 NM_198253.3:c.1743G>A C T . . CSQ=T|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|3/15||||1822|1743|581|W/*|tgG/tgA|CD157415||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|3/16||||1822|1743|581|W/*|tgG/tgA|CD157415||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|3/13||||1822|||||CD157415||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|3/13||||1822|||||CD157415||-1||EntrezGene||||||||G|G||||||||||||||||1||||||
5 1282600 NM_198253.3:c.1712del GT G . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|3/15||||1791|1712|571|N/X|aAc/ac|||-1||EntrezGene||||||||A|A||||||||||||||||||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|3/16||||1791|1712|571|N/X|aAc/ac|||-1||EntrezGene||||||||A|A||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|3/13||||1791|||||||-1||EntrezGene||||||||A|A||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|3/13||||1791|||||||-1||EntrezGene||||||||A|A||||||||||||||||||||||
5 1282602 NM_198253.3:c.1710G>Y TC Y . . CSQ=R|coding_sequence_variant|MODIFIER|TERT|7015|Transcript|NM_001193376.3|protein_coding|3/15||||1789|1710|570||aaG/aaY|CM074595&CM172931&COSV99719050||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1||||||,R|coding_sequence_variant|MODIFIER|TERT|7015|Transcript|NM_198253.3|protein_coding|3/16||||1789|1710|570||aaG/aaY|CM074595&CM172931&COSV99719050||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1||||||,R|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|3/13||||1789|||||CM074595&CM172931&COSV99719050||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1||||||,R|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|3/13||||1789|||||CM074595&CM172931&COSV99719050||-1||EntrezGene||||||||G|G|||||||||||||||0&0&1|1&1&1||||||
5 1282626 NM_198253.3:c.1685_1686del CAT C . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|3/15||||1764-1765|1685-1686|562|Y/X|tAT/t|rs1579580058||-1||EntrezGene||||||||AT|AT||||||||||||||pathogenic||1||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|3/16||||1764-1765|1685-1686|562|Y/X|tAT/t|rs1579580058||-1||EntrezGene||||||||AT|AT||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|3/13||||1764-1765|||||rs1579580058||-1||EntrezGene||||||||AT|AT||||||||||||||pathogenic||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|3/13||||1764-1765|||||rs1579580058||-1||EntrezGene||||||||AT|AT||||||||||||||pathogenic||1||||||
5 1293545 NM_198253.3:c.1456C>T G A . . CSQ=A|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1535|1456|486|R/C|Cgc/Tgc|rs199422293&CM103160||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.992)|||||||||||||1&1|20301779|||||,A|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1535|1456|486|R/C|Cgc/Tgc|rs199422293&CM103160||-1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.995)|||||||||||||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1535|||||rs199422293&CM103160||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1535|||||rs199422293&CM103160||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||
5 1293551 NM_198253.3:c.1450G>T C A . . CSQ=A|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1529|1450|484|E/*|Gaa/Taa|rs1561213355&COSV57208223||-1||EntrezGene||||||||G|G|||||||||||||||0&1|1&1||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1529|1450|484|E/*|Gaa/Taa|rs1561213355&COSV57208223||-1||EntrezGene||||||||G|G|||||||||||||||0&1|1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1529|||||rs1561213355&COSV57208223||-1||EntrezGene||||||||G|G|||||||||||||||0&1|1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1529|||||rs1561213355&COSV57208223||-1||EntrezGene||||||||G|G|||||||||||||||0&1|1&1||||||
5 1293567 NM_198253.3:c.1434G>A C T . . CSQ=T|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1513|1434|478|W/*|tgG/tgA|||-1||EntrezGene||||||||G|G||||||||||||||||||||||,T|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1513|1434|478|W/*|tgG/tgA|||-1||EntrezGene||||||||G|G||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1513|||||||-1||EntrezGene||||||||G|G||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1513|||||||-1||EntrezGene||||||||G|G||||||||||||||||||||||
5 1293576 NM_198253.3:c.1424del TG T . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1503|1424|475|P/X|cCa/ca|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1503|1424|475|P/X|cCa/ca|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1503|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1503|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||
5 1293620 NM_198253.3:c.1381G>T C A . . CSQ=A|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1460|1381|461|V/L|Gtg/Ttg|rs1579596470||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.994)|||||||||||||1||||||,A|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1460|1381|461|V/L|Gtg/Ttg|rs1579596470||-1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.963)|||||||||||||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1460|||||rs1579596470||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1460|||||rs1579596470||-1||EntrezGene||||||||G|G||||||||||||||||1||||||
5 1293686 NM_198253.3:c.1314del CG C . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1393|1314|438|P/X|ccC/cc|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1393|1314|438|P/X|ccC/cc|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1393|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1393|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||
5 1293716 NM_198253.3:c.1285G>T C A . . CSQ=A|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1364|1285|429|E/*|Gag/Tag|||-1||EntrezGene||||||||G|G||||||||||||||||||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1364|1285|429|E/*|Gag/Tag|||-1||EntrezGene||||||||G|G||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1364|||||||-1||EntrezGene||||||||G|G||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1364|||||||-1||EntrezGene||||||||G|G||||||||||||||||||||||
5 1293829 NM_198253.3:c.1156_1171del GGCCGCATTTGCCAGTA G . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1235-1250|1156-1171|386-391|YWQMRP/X|TACTGGCAAATGCGGCcc/cc|||-1||EntrezGene||||||||TACTGGCAAATGCGGC|TACTGGCAAATGCGGC||||||||||||||||||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1235-1250|1156-1171|386-391|YWQMRP/X|TACTGGCAAATGCGGCcc/cc|||-1||EntrezGene||||||||TACTGGCAAATGCGGC|TACTGGCAAATGCGGC||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1235-1250|||||||-1||EntrezGene||||||||TACTGGCAAATGCGGC|TACTGGCAAATGCGGC||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1235-1250|||||||-1||EntrezGene||||||||TACTGGCAAATGCGGC|TACTGGCAAATGCGGC||||||||||||||||||||||
5 1293866 NM_198253.3:c.1122_1134del ACCTGCGGGGAGTC A . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1201-1213|1122-1134|374-378|GTPRR/X|ggGACTCCCCGCAGG/gg|||-1||EntrezGene||||||||GACTCCCCGCAGG|GACTCCCCGCAGG||||||||||||||||||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1201-1213|1122-1134|374-378|GTPRR/X|ggGACTCCCCGCAGG/gg|||-1||EntrezGene||||||||GACTCCCCGCAGG|GACTCCCCGCAGG||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1201-1213|||||||-1||EntrezGene||||||||GACTCCCCGCAGG|GACTCCCCGCAGG||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1201-1213|||||||-1||EntrezGene||||||||GACTCCCCGCAGG|GACTCCCCGCAGG||||||||||||||||||||||
5 1293951 NM_198253.3:c.1048_1049del CAG C . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||1127-1128|1048-1049|350|L/X|CTg/g|rs1554042899||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||1127-1128|1048-1049|350|L/X|CTg/g|rs1554042899||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||1127-1128|||||rs1554042899||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||1127-1128|||||rs1554042899||-1||EntrezGene||||||||CT|CT||||||||||||||||1||||||
5 1294313 NM_198253.3:c.688C>T G A . . CSQ=A|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||767|688|230|R/*|Cga/Tga|rs989271195||-1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|||1||||||,A|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||767|688|230|R/*|Cga/Tga|rs989271195||-1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||767|||||rs989271195||-1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|||1||||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||767|||||rs989271195||-1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|||1||||||
5 1294387 NM_198253.3:c.613dup T TG . . CSQ=G|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||692-693|613-614|205|H/PX|cat/cCat|||-1||EntrezGene|||||||||||||||||||||||||||||||,G|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||692-693|613-614|205|H/PX|cat/cCat|||-1||EntrezGene|||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||692-693|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||692-693|||||||-1||EntrezGene|||||||||||||||||||||||||||||||
5 1294421 NM_198253.3:c.579_580delinsTT GG AA . . CSQ=AA|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||658-659|579-580|193-194|PR/P*|ccCCga/ccTTga|rs1554043041||-1||EntrezGene||||||||CC|CC||||||||||||||||1||||||,AA|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||658-659|579-580|193-194|PR/P*|ccCCga/ccTTga|rs1554043041||-1||EntrezGene||||||||CC|CC||||||||||||||||1||||||,AA|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||658-659|||||rs1554043041||-1||EntrezGene||||||||CC|CC||||||||||||||||1||||||,AA|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||658-659|||||rs1554043041||-1||EntrezGene||||||||CC|CC||||||||||||||||1||||||,AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs1554043041|||||||||||||||||||||||||||||1||||||
5 1294430 NM_198253.3:c.570_586dup T TGCCTTCGGGGTCCACTA . . CSQ=GCCTTCGGGGTCCACTA|stop_gained&frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||649-650|570-571|190-191|-/*WTPKX|-/TAGTGGACCCCGAAGGC|||-1||EntrezGene|||||||||||||||||||||||||||||||,GCCTTCGGGGTCCACTA|stop_gained&frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||649-650|570-571|190-191|-/*WTPKX|-/TAGTGGACCCCGAAGGC|||-1||EntrezGene|||||||||||||||||||||||||||||||,GCCTTCGGGGTCCACTA|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||649-650|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,GCCTTCGGGGTCCACTA|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||649-650|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,GCCTTCGGGGTCCACTA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter|||||||||||||||||||||||||||||||||||||||||||||
5 1294663 NM_198253.3:c.337dup T TC . . CSQ=C|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||416-417|337-338|113|E/GX|gag/gGag|rs1554043088||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,C|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||416-417|337-338|113|E/GX|gag/gGag|rs1554043088||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||416-417|||||rs1554043088||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,C|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||416-417|||||rs1554043088||-1||EntrezGene|||||||||||||||||||||||pathogenic||1||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs1554043088|||||||||||||||||||||||||||pathogenic||1||||||
5 1294664 NM_198253.3:c.336dup C CG . . CSQ=G|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|2/15||||415-416|336-337|112-113|-/X|-/C|rs1060502990||-1||EntrezGene||||||||||||||1.084e-05|0.0001018|0|0|0|0|1.253e-05|0|0|pathogenic||1||||||,G|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|2/16||||415-416|336-337|112-113|-/X|-/C|rs1060502990||-1||EntrezGene||||||||||||||1.084e-05|0.0001018|0|0|0|0|1.253e-05|0|0|pathogenic||1||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|2/13||||415-416|||||rs1060502990||-1||EntrezGene||||||||||||||1.084e-05|0.0001018|0|0|0|0|1.253e-05|0|0|pathogenic||1||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|2/13||||415-416|||||rs1060502990||-1||EntrezGene||||||||||||||1.084e-05|0.0001018|0|0|0|0|1.253e-05|0|0|pathogenic||1||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs1060502990||||||||||||||||||1.084e-05|0.0001018|0|0|0|0|1.253e-05|0|0|pathogenic||1||||||
5 1294885 NM_198253.3:c.219+1G>A C T . . CSQ=T|splice_donor_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding||1/14||||||||rs199422309&CS072294||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&17392301|||||,T|splice_donor_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding||1/15||||||||rs199422309&CS072294||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&17392301|||||,T|splice_donor_variant&non_coding_transcript_variant|HIGH|TERT|7015|Transcript|NR_149162.3|misc_RNA||1/12||||||||rs199422309&CS072294||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&17392301|||||,T|splice_donor_variant&non_coding_transcript_variant|HIGH|TERT|7015|Transcript|NR_149163.3|misc_RNA||1/12||||||||rs199422309&CS072294||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&17392301|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs199422309&CS072294|||||||||||||||||||||||||||||1&1|20301779&17392301|||||
5 1294906 NM_198253.3:c.198dup C CG . . CSQ=G|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|1/15||||277-278|198-199|66-67|-/X|-/C|||-1||EntrezGene|||||||||||||||||||||||||||||||,G|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|1/16||||277-278|198-199|66-67|-/X|-/C|||-1||EntrezGene|||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|1/13||||277-278|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|1/13||||277-278|||||||-1||EntrezGene|||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter|||||||||||||||||||||||||||||||||||||||||||||
5 1294925 NM_198253.3:c.180G>A C T . . CSQ=T|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|1/15||||259|180|60|W/*|tgG/tgA|rs1554043139||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|1/16||||259|180|60|W/*|tgG/tgA|rs1554043139||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|1/13||||259|||||rs1554043139||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|1/13||||259|||||rs1554043139||-1||EntrezGene||||||||G|G||||||||||||||||1||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs1554043139|||||||||||||||||||||||||||||1||||||
5 1294941 NM_198253.3:c.164T>A A T . . CSQ=T|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|1/15||||243|164|55|L/Q|cTg/cAg|rs387907247&CM072079||-1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.957)|||||||||||||1&1|20301779&17392301|||||,T|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|1/16||||243|164|55|L/Q|cTg/cAg|rs387907247&CM072079||-1||EntrezGene||||||||T|T||deleterious(0)|possibly_damaging(0.907)|||||||||||||1&1|20301779&17392301|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|1/13||||243|||||rs387907247&CM072079||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&17392301|||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|1/13||||243|||||rs387907247&CM072079||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&17392301|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs387907247&CM072079|||||||||||||||||||||||||||||1&1|20301779&17392301|||||
5 1294943 NM_198253.3:c.162C>A G T . . CSQ=T|stop_gained|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|1/15||||241|162|54|C/*|tgC/tgA|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|stop_gained|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|1/16||||241|162|54|C/*|tgC/tgA|||-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|1/13||||241|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|1/13||||241|||||||-1||EntrezGene||||||||C|C||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter|||||||||||||||||||||||||||||||||||||||||||||
5 1294992 NM_198253.3:c.112del AG A . . CSQ=-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_001193376.3|protein_coding|1/15||||191|112|38|L/X|Ctg/tg|rs199422290||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,-|frameshift_variant|HIGH|TERT|7015|Transcript|NM_198253.3|protein_coding|1/16||||191|112|38|L/X|Ctg/tg|rs199422290||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|1/13||||191|||||rs199422290||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,-|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|1/13||||191|||||rs199422290||-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs199422290|||||||||||||||||||||||||||pathogenic||1|20301779|||||,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00653528879|||||||||||rs199422290||-1|||||||||||||||||||||||||pathogenic||1|20301779|ENSPFM0260|11|N||GCM2::MAX
5 1295008 NM_198253.3:c.97C>T G A . . CSQ=A|missense_variant|MODERATE|TERT|7015|Transcript|NM_001193376.3|protein_coding|1/15||||176|97|33|P/S|Ccc/Tcc|rs199422289&CM103158||-1||EntrezGene||||||||C|C||tolerated(0.08)|benign(0.167)|||||||||||||1&1|20301779|||||,A|missense_variant|MODERATE|TERT|7015|Transcript|NM_198253.3|protein_coding|1/16||||176|97|33|P/S|Ccc/Tcc|rs199422289&CM103158||-1||EntrezGene||||||||C|C||tolerated(0.2)|benign(0.08)|||||||||||||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149162.3|misc_RNA|1/13||||176|||||rs199422289&CM103158||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|TERT|7015|Transcript|NR_149163.3|misc_RNA|1/13||||176|||||rs199422289&CM103158||-1||EntrezGene||||||||C|C||||||||||||||||1&1|20301779|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001317615|promoter||||||||||rs199422289&CM103158|||||||||||||||||||||||||||||1&1|20301779|||||
5 177576716 NM_017838.4:c.460T>A A T . . CSQ=T|3_prime_UTR_variant|MODIFIER|NHP2|55651|Transcript|NM_001034833.2|protein_coding|3/3||||422|||||rs121908091&CM082984||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,T|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_001288794.2|protein_coding|12/12||||3198|||||rs121908091&CM082984||1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,T|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_001288795.2|protein_coding|11/11||||3047|||||rs121908091&CM082984||1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,T|stop_lost|HIGH|NHP2|55651|Transcript|NM_017838.4|protein_coding|4/4||||528|460|154|*/R|Tga/Aga|rs121908091&CM082984||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,T|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_022762.5|protein_coding|11/11||||3058|||||rs121908091&CM082984||1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001350812|promoter_flanking_region||||||||||rs121908091&CM082984|||||||||||||||||||||||||||||1&1|20301779&18523010|||||
5 177576761 NM_017838.4:c.415T>C A G . . CSQ=G|3_prime_UTR_variant|MODIFIER|NHP2|55651|Transcript|NM_001034833.2|protein_coding|3/3||||377|||||rs121908089&CM082986||-1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,G|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_001288794.2|protein_coding|12/12||||3243|||||rs121908089&CM082986||1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,G|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_001288795.2|protein_coding|11/11||||3092|||||rs121908089&CM082986||1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,G|missense_variant|MODERATE|NHP2|55651|Transcript|NM_017838.4|protein_coding|4/4||||483|415|139|Y/H|Tac/Cac|rs121908089&CM082986||-1||EntrezGene||||||||T|T||deleterious(0.02)|probably_damaging(0.985)|||||||||||||1&1|20301779&18523010|||||,G|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_022762.5|protein_coding|11/11||||3103|||||rs121908089&CM082986||1||EntrezGene||||||||T|T||||||||||||||||1&1|20301779&18523010|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001350812|promoter_flanking_region||||||||||rs121908089&CM082986|||||||||||||||||||||||||||||1&1|20301779&18523010|||||
5 177576800 NM_017838.4:c.376G>A C T . . CSQ=T|synonymous_variant|LOW|NHP2|55651|Transcript|NM_001034833.2|protein_coding|3/3||||338|270|90|V|gtG/gtA|rs121908090&CM082985||-1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&18523010|||||,T|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_001288794.2|protein_coding|12/12||||3282|||||rs121908090&CM082985||1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&18523010|||||,T|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_001288795.2|protein_coding|11/11||||3131|||||rs121908090&CM082985||1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&18523010|||||,T|missense_variant|MODERATE|NHP2|55651|Transcript|NM_017838.4|protein_coding|4/4||||444|376|126|V/M|Gtg/Atg|rs121908090&CM082985||-1||EntrezGene||||||||G|G||tolerated(0.31)|probably_damaging(0.975)|||||||||||||1&1|20301779&18523010|||||,T|3_prime_UTR_variant|MODIFIER|RMND5B|64777|Transcript|NM_022762.5|protein_coding|11/11||||3142|||||rs121908090&CM082985||1||EntrezGene||||||||G|G||||||||||||||||1&1|20301779&18523010|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001350812|promoter_flanking_region||||||||||rs121908090&CM082985|||||||||||||||||||||||||||||1&1|20301779&18523010|||||
X 153991245 NM_001363.5:c.5C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|1/15||||107|5|2|A/V|gCg/gTg|rs121912303&CM990474||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.994)|||||||||||pathogenic||1&1|20301779&10364516|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|1/14||||107|5|2|A/V|gCg/gTg|rs121912303&CM990474||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.972)|||||||||||pathogenic||1&1|20301779&10364516|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|1/15||||107|5|2|A/V|gCg/gTg|rs121912303&CM990474||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.939)|||||||||||pathogenic||1&1|20301779&10364516|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|1/14||||107|||||rs121912303&CM990474||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&10364516|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|1/14||||107|||||rs121912303&CM990474||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&10364516|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|1/15||||107|||||rs121912303&CM990474||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&10364516|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs121912303&CM990474|||||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523235357|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0305|9|N|-0.006|HOXB2::ELF1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523570915|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0307|4|N|0.019|HOXB2::ELF1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00817258505|||||||||||rs121912303&CM990474||-1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0614|5|N|-0.072|YY2&YY1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523798880|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0370|5|Y|-0.118|MEIS1::ELF1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00529769102|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0574|12|N|0.003|TEAD4::RFX5,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523460513|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0506|1|N|0.011|TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00529302965|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0530|1|N|0.009|TEAD4::ELK1,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00529186327|||||||||||rs121912303&CM990474||-1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0560|14|N|0.016|TEAD4::HOXA2&TEAD4::HOXA3,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00529261517|||||||||||rs121912303&CM990474||1|||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|ENSPFM0505|1|N|-0.001|SPI1&SPIB&SPIC&TEAD4::SPIB
X 153991848 NM_001363.5:c.16+592C>G C G . . CSQ=G|intron_variant|MODIFIER|DKC1|1736|Transcript|NM_001142463.3|protein_coding||1/14||||||||rs1603429348&CS1515928||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|intron_variant|MODIFIER|DKC1|1736|Transcript|NM_001288747.2|protein_coding||1/13||||||||rs1603429348&CS1515928||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|intron_variant|MODIFIER|DKC1|1736|Transcript|NM_001363.5|protein_coding||1/14||||||||rs1603429348&CS1515928||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs1603429348&CS1515928|4955|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA||1/13||||||||rs1603429348&CS1515928||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA||1/13||||||||rs1603429348&CS1515928||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA||1/14||||||||rs1603429348&CS1515928||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs1603429348&CS1515928|||||||||||||||||||||||||||pathogenic||1&1|9042917&11379875|||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00718765349|||||||||||rs1603429348&CS1515928||-1|||||||||||||||||||||||||pathogenic||1&1|9042917&11379875|ENSPFM0402|2|Y|-0.034|MYBL1::MAX
X 153993186 NM_001363.5:c.29C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|2/15||||131|29|10|P/L|cCa/cTa|rs199422242&CM060957||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|benign(0.003)|||||||||||pathogenic||1&1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|2/14||||131|29|10|P/L|cCa/cTa|rs199422242&CM060957||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.01)|benign(0)|||||||||||pathogenic||1&1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|2/15||||131|29|10|P/L|cCa/cTa|rs199422242&CM060957||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|benign(0)|||||||||||pathogenic||1&1|20301779|||||,T|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422242&CM060957|3617|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422242&CM060957|3685|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||131|||||rs199422242&CM060957||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|2/14||||131|||||rs199422242&CM060957||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|2/15||||131|||||rs199422242&CM060957||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs199422242&CM060957|||||||||||||||||||||||||||pathogenic||1&1|20301779|||||
X 153993725 NM_001363.5:c.91C>A C A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||193|91|31|Q/K|Caa/Aaa|rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.03)|possibly_damaging(0.646)|||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||193|91|31|Q/K|Caa/Aaa|rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.04)|benign(0.03)|||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||193|91|31|Q/K|Caa/Aaa|rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||deleterious(0.03)|benign(0.023)|||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs137854491&CM042697&CM058293|3078|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs137854491&CM042697&CM058293|3146|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||670|||||rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||193|||||rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||193|||||rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs137854491&CM042697&CM058293|||||||||||||||||||||||||||pathogenic||1&1&1|20301779&15842668|||||
X 153993725 NM_001363.5:c.91C>G C G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||193|91|31|Q/E|Caa/Gaa|rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.04)|possibly_damaging(0.885)|||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||193|91|31|Q/E|Caa/Gaa|rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.05)|benign(0.049)|||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||193|91|31|Q/E|Caa/Gaa|rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||deleterious(0.04)|benign(0.023)|||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs137854491&CM042697&CM058293|3078|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs137854491&CM042697&CM058293|3146|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||670|||||rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||193|||||rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||193|||||rs137854491&CM042697&CM058293||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15842668|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs137854491&CM042697&CM058293|||||||||||||||||||||||||||pathogenic||1&1&1|20301779&15842668|||||
X 153993740 NM_001363.5:c.106T>G T G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||208|106|36|F/V|Ttt/Gtt|rs121912293&CM980559||1||EntrezGene||||||||T|T||deleterious(0)|possibly_damaging(0.468)|||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||208|106|36|F/V|Ttt/Gtt|rs121912293&CM980559||1||EntrezGene||||||||T|T||deleterious_low_confidence(0)|benign(0.349)|||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||208|106|36|F/V|Ttt/Gtt|rs121912293&CM980559||1||EntrezGene||||||||T|T||deleterious(0)|benign(0.214)|||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912293&CM980559|3063|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912293&CM980559|3131|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||685|||||rs121912293&CM980559||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||208|||||rs121912293&CM980559||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||208|||||rs121912293&CM980559||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&9590285&9042917|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs121912293&CM980559|||||||||||||||||||||||||||pathogenic||1&1|20301779&9590285&9042917|||||
X 153993747 NM_001363.5:c.113T>C T C . . CSQ=C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||215|113|38|I/T|aTc/aCc|rs28936072&CM023365||1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.992)|||||||||||pathogenic||1&1|20301779&12437656|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||215|113|38|I/T|aTc/aCc|rs28936072&CM023365||1||EntrezGene||||||||T|T||deleterious_low_confidence(0)|probably_damaging(0.995)|||||||||||pathogenic||1&1|20301779&12437656|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||215|113|38|I/T|aTc/aCc|rs28936072&CM023365||1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.996)|||||||||||pathogenic||1&1|20301779&12437656|||||,C|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs28936072&CM023365|3056|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&12437656|||||,C|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs28936072&CM023365|3124|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&12437656|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||692|||||rs28936072&CM023365||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&12437656|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||215|||||rs28936072&CM023365||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&12437656|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||215|||||rs28936072&CM023365||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&12437656|||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs28936072&CM023365|||||||||||||||||||||||||||pathogenic||1&1|20301779&12437656|||||
X 153993749 NM_001363.5:c.115A>G A G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||217|115|39|K/E|Aaa/Gaa|rs121912296&CM990475||1||EntrezGene||||||||A|A||tolerated(0.17)|benign(0.007)|||||||||||pathogenic||1&1|20301779&10364516|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||217|115|39|K/E|Aaa/Gaa|rs121912296&CM990475||1||EntrezGene||||||||A|A||tolerated_low_confidence(0.16)|benign(0.005)|||||||||||pathogenic||1&1|20301779&10364516|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||217|115|39|K/E|Aaa/Gaa|rs121912296&CM990475||1||EntrezGene||||||||A|A||tolerated(0.17)|benign(0.001)|||||||||||pathogenic||1&1|20301779&10364516|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912296&CM990475|3054|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912296&CM990475|3122|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||694|||||rs121912296&CM990475||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||217|||||rs121912296&CM990475||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||217|||||rs121912296&CM990475||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs121912296&CM990475|||||||||||||||||||||||||||pathogenic||1&1|20301779&10364516|||||
X 153993753 NM_001363.5:c.119C>G C G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||221|119|40|P/R|cCt/cGt|rs121912292&CM980560||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.988)|||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||221|119|40|P/R|cCt/cGt|rs121912292&CM980560||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.988)|||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||221|119|40|P/R|cCt/cGt|rs121912292&CM980560||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.919)|||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912292&CM980560|3050|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912292&CM980560|3118|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||698|||||rs121912292&CM980560||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||221|||||rs121912292&CM980560||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||221|||||rs121912292&CM980560||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&3009302&9590285|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs121912292&CM980560|||||||||||||||||||||||||||pathogenic||1&1|20301779&3009302&9590285|||||
X 153993755 NM_001363.5:c.121G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||223|121|41|E/K|Gaa/Aaa|rs121912302&CM990476&COSV65777254||1||EntrezGene||||||||G|G||deleterious(0.01)|benign(0.139)|||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||223|121|41|E/K|Gaa/Aaa|rs121912302&CM990476&COSV65777254||1||EntrezGene||||||||G|G||deleterious_low_confidence(0.01)|benign(0.201)|||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||223|121|41|E/K|Gaa/Aaa|rs121912302&CM990476&COSV65777254||1||EntrezGene||||||||G|G||deleterious(0.01)|benign(0.025)|||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912302&CM990476&COSV65777254|3048|1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912302&CM990476&COSV65777254|3116|1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||700|||||rs121912302&CM990476&COSV65777254||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||223|||||rs121912302&CM990476&COSV65777254||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||223|||||rs121912302&CM990476&COSV65777254||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs121912302&CM990476&COSV65777254|||||||||||||||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||
X 153993761 NM_001363.5:c.127A>G A G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||229|127|43|K/E|Aaa/Gaa|rs199422243&CM014177||1||EntrezGene||||||||A|A||tolerated(0.63)|benign(0.005)|||||||||||pathogenic||1&1|20301779|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||229|127|43|K/E|Aaa/Gaa|rs199422243&CM014177||1||EntrezGene||||||||A|A||tolerated_low_confidence(0.75)|benign(0.005)|||||||||||pathogenic||1&1|20301779|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||229|127|43|K/E|Aaa/Gaa|rs199422243&CM014177||1||EntrezGene||||||||A|A||tolerated(0.72)|benign(0.005)|||||||||||pathogenic||1&1|20301779|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422243&CM014177|3042|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422243&CM014177|3110|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||706|||||rs199422243&CM014177||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||229|||||rs199422243&CM014177||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||229|||||rs199422243&CM014177||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs199422243&CM014177|||||||||||||||||||||||||||pathogenic||1&1|20301779|||||
X 153993780 NM_001363.5:c.146C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|3/15||||248|146|49|T/M|aCg/aTg|rs121912304&CM014178||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.95)|||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|3/14||||248|146|49|T/M|aCg/aTg|rs121912304&CM014178||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.943)|||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|3/15||||248|146|49|T/M|aCg/aTg|rs121912304&CM014178||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.98)|||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912304&CM014178|3023|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912304&CM014178|3091|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|2/14||||725|||||rs121912304&CM014178||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|3/14||||248|||||rs121912304&CM014178||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|3/15||||248|||||rs121912304&CM014178||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249704|promoter||||||||||rs121912304&CM014178|||||||||||||||||||||||||||pathogenic||1&1|20301779&11491307&19734544&10583221&24914498|||||
X 153994204 NM_001363.5:c.194G>C G C . . CSQ=C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|4/15||||296|194|65|R/T|aGg/aCg|rs121912301&CM1314898&CM990477||1||EntrezGene||||||||G|G||deleterious(0)|possibly_damaging(0.904)|||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|4/14||||296|194|65|R/T|aGg/aCg|rs121912301&CM1314898&CM990477||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|probably_damaging(0.973)|||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|4/15||||296|194|65|R/T|aGg/aCg|rs121912301&CM1314898&CM990477||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.961)|||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912301&CM1314898&CM990477|2599|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912301&CM1314898&CM990477|2667|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|3/14||||773|||||rs121912301&CM1314898&CM990477||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|4/14||||296|||||rs121912301&CM1314898&CM990477||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|4/15||||296|||||rs121912301&CM1314898&CM990477||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||
X 153994206 NM_001363.5:c.196A>G A G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|4/15||||298|196|66|T/A|Aca/Gca|rs121912297&CM990478||1||EntrezGene||||||||A|A||deleterious(0)|possibly_damaging(0.891)|||||||||||pathogenic||1&1|20301779&10364516|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|4/14||||298|196|66|T/A|Aca/Gca|rs121912297&CM990478||1||EntrezGene||||||||A|A||deleterious_low_confidence(0.01)|benign(0.249)|||||||||||pathogenic||1&1|20301779&10364516|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|4/15||||298|196|66|T/A|Aca/Gca|rs121912297&CM990478||1||EntrezGene||||||||A|A||deleterious(0.01)|benign(0.219)|||||||||||pathogenic||1&1|20301779&10364516|||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912297&CM990478|2597|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912297&CM990478|2665|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|3/14||||775|||||rs121912297&CM990478||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|4/14||||298|||||rs121912297&CM990478||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|4/15||||298|||||rs121912297&CM990478||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779&10364516|||||
X 153994210 NM_001363.5:c.200C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|4/15||||302|200|67|T/I|aCa/aTa|rs199422244&CM060954||1||EntrezGene||||||||C|C||deleterious(0)|possibly_damaging(0.564)|||||||||||pathogenic||1&1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|4/14||||302|200|67|T/I|aCa/aTa|rs199422244&CM060954||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|benign(0.189)|||||||||||pathogenic||1&1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|4/15||||302|200|67|T/I|aCa/aTa|rs199422244&CM060954||1||EntrezGene||||||||C|C||deleterious(0)|possibly_damaging(0.449)|||||||||||pathogenic||1&1|20301779|||||,T|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422244&CM060954|2593|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422244&CM060954|2661|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|3/14||||779|||||rs199422244&CM060954||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|4/14||||302|||||rs199422244&CM060954||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|4/15||||302|||||rs199422244&CM060954||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||
X 153994213 NM_001363.5:c.203A>G A G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|4/15||||305|203|68|H/R|cAc/cGc|rs1557264102&CM128084||1||EntrezGene||||||||A|A||deleterious(0)|probably_damaging(0.958)|||||||||||pathogenic||1&1||||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|4/14||||305|203|68|H/R|cAc/cGc|rs1557264102&CM128084||1||EntrezGene||||||||A|A||deleterious_low_confidence(0)|probably_damaging(0.999)|||||||||||pathogenic||1&1||||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|4/15||||305|203|68|H/R|cAc/cGc|rs1557264102&CM128084||1||EntrezGene||||||||A|A||deleterious(0)|probably_damaging(0.946)|||||||||||pathogenic||1&1||||||,G|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs1557264102&CM128084|2590|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1||||||,G|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs1557264102&CM128084|2658|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|3/14||||782|||||rs1557264102&CM128084||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|4/14||||305|||||rs1557264102&CM128084||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1||||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|4/15||||305|||||rs1557264102&CM128084||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1||||||
X 153994214 NM_001363.5:c.204C>A C A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|4/15||||306|204|68|H/Q|caC/caA|rs199422245&CM060956||1||EntrezGene||||||||C|C||deleterious(0.01)|probably_damaging(0.969)|||||||||||pathogenic||1&1|20301779|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|4/14||||306|204|68|H/Q|caC/caA|rs199422245&CM060956||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.01)|probably_damaging(0.999)|||||||||||pathogenic||1&1|20301779|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|4/15||||306|204|68|H/Q|caC/caA|rs199422245&CM060956||1||EntrezGene||||||||C|C||deleterious(0.01)|possibly_damaging(0.653)|||||||||||pathogenic||1&1|20301779|||||,A|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422245&CM060956|2589|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,A|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422245&CM060956|2657|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|3/14||||783|||||rs199422245&CM060956||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|4/14||||306|||||rs199422245&CM060956||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|4/15||||306|||||rs199422245&CM060956||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||
X 153994224 NM_001363.5:c.214_215delinsTA CT TA . . CSQ=TA|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|4/15||||316-317|214-215|72|L/Y|CTt/TAt|rs121912294||1||EntrezGene||||||||CT|CT||deleterious(0.01)|benign(0.43)|||||||||||pathogenic||1|9590285|||||,TA|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|4/14||||316-317|214-215|72|L/Y|CTt/TAt|rs121912294||1||EntrezGene||||||||CT|CT||deleterious_low_confidence(0.01)|benign(0.109)|||||||||||pathogenic||1|9590285|||||,TA|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|4/15||||316-317|214-215|72|L/Y|CTt/TAt|rs121912294||1||EntrezGene||||||||CT|CT||deleterious(0.01)|benign(0.133)|||||||||||pathogenic||1|9590285|||||,TA|upstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912294|2578|1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|9590285|||||,TA|upstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912294|2646|1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|9590285|||||,TA|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|3/14||||793-794|||||rs121912294||1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|9590285|||||,TA|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|4/14||||316-317|||||rs121912294||1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|9590285|||||,TA|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|4/15||||316-317|||||rs121912294||1||EntrezGene||||||||CT|CT||||||||||||||pathogenic||1|9590285|||||
X 153997581 NM_001363.5:c.911G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|9/15||||1013|911|304|S/N|aGt/aAt|rs199422247&CM090172||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.944)|||||||||||pathogenic||1&1|20301779|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|9/14||||1013|911|304|S/N|aGt/aAt|rs199422247&CM090172||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|possibly_damaging(0.825)|||||||||||pathogenic||1&1|20301779|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|9/15||||1013|911|304|S/N|aGt/aAt|rs199422247&CM090172||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.93)|||||||||||pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422247&CM090172|647|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422247&CM090172|650|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|8/14||||1490|||||rs199422247&CM090172||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|8/14||||1609|||||rs199422247&CM090172||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|9/15||||1383|||||rs199422247&CM090172||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||
X 153999059 NM_001363.5:c.941A>G A G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|10/15||||1043|941|314|K/R|aAg/aGg|rs199422248&CM060953||1||EntrezGene||||||||A|A||deleterious(0.01)|probably_damaging(0.965)|||||||||||pathogenic||1&1|20301779|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|10/14||||1043|941|314|K/R|aAg/aGg|rs199422248&CM060953||1||EntrezGene||||||||A|A||deleterious_low_confidence(0.01)|possibly_damaging(0.882)|||||||||||pathogenic||1&1|20301779|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|10/15||||1043|941|314|K/R|aAg/aGg|rs199422248&CM060953||1||EntrezGene||||||||A|A||deleterious(0.01)|possibly_damaging(0.743)|||||||||||pathogenic||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422248&CM060953|2125|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs199422248&CM060953|4214|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422248&CM060953|2128|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|9/14||||1520|||||rs199422248&CM060953||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|9/14||||1639|||||rs199422248&CM060953||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|10/15||||1413|||||rs199422248&CM060953||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|20301779|||||
X 153999067 NM_001363.5:c.949C>G C G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|10/15||||1051|949|317|L/V|Ctt/Gtt|rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||tolerated(0.06)|benign(0.203)|||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|10/14||||1051|949|317|L/V|Ctt/Gtt|rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||tolerated_low_confidence(0.08)|benign(0.019)|||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|10/15||||1051|949|317|L/V|Ctt/Gtt|rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||tolerated(0.07)|benign(0.011)|||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912290&CM090173&CM100590|2133|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912290&CM090173&CM100590|4206|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912290&CM090173&CM100590|2136|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|9/14||||1528|||||rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|9/14||||1647|||||rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|10/15||||1421|||||rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||
X 153999067 NM_001363.5:c.949C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|10/15||||1051|949|317|L/F|Ctt/Ttt|rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||deleterious(0.02)|probably_damaging(0.947)|||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|10/14||||1051|949|317|L/F|Ctt/Ttt|rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.03)|possibly_damaging(0.572)|||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|10/15||||1051|949|317|L/F|Ctt/Ttt|rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||deleterious(0.02)|possibly_damaging(0.571)|||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912290&CM090173&CM100590|2133|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912290&CM090173&CM100590|4206|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912290&CM090173&CM100590|2136|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|9/14||||1528|||||rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|9/14||||1647|||||rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|10/15||||1421|||||rs121912290&CM090173&CM100590||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&19879169|||||
X 153999079 NM_001363.5:c.961C>G C G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|10/15||||1063|961|321|L/V|Ctt/Gtt|rs2728726&CM163962&CM990479||1||EntrezGene||||||||C|C||deleterious(0)|benign(0.441)|||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|10/14||||1063|961|321|L/V|Ctt/Gtt|rs2728726&CM163962&CM990479||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|possibly_damaging(0.88)|||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|10/15||||1063|961|321|L/V|Ctt/Gtt|rs2728726&CM163962&CM990479||1||EntrezGene||||||||C|C||deleterious(0)|possibly_damaging(0.826)|||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs2728726&CM163962&CM990479|2145|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs2728726&CM163962&CM990479|4194|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs2728726&CM163962&CM990479|2148|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|9/14||||1540|||||rs2728726&CM163962&CM990479||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|9/14||||1659|||||rs2728726&CM163962&CM990479||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|10/15||||1433|||||rs2728726&CM163962&CM990479||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|21258621&20301779&10364516|||||
X 154001418 NM_001363.5:c.1049T>C T C . . CSQ=C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1151|1049|350|M/T|aTg/aCg|rs121912300&CM990480||1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.987)|||||||||||pathogenic||1&1|20301779&10364516|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1151|1049|350|M/T|aTg/aCg|rs121912300&CM990480||1||EntrezGene||||||||T|T||deleterious_low_confidence(0)|probably_damaging(0.981)|||||||||||pathogenic||1&1|20301779&10364516|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1151|1049|350|M/T|aTg/aCg|rs121912300&CM990480||1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.989)|||||||||||pathogenic||1&1|20301779&10364516|||||,C|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912300&CM990480|4484|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&10364516|||||,C|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912300&CM990480|1855|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&10364516|||||,C|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912300&CM990480|4487|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&10364516|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1628|||||rs121912300&CM990480||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&10364516|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1747|||||rs121912300&CM990480||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&10364516|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1521|||||rs121912300&CM990480||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779&10364516|||||
X 154001419 NM_001363.5:c.1050G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1152|1050|350|M/I|atG/atA|rs121912298&CM034649&CM990481||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.966)|||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1152|1050|350|M/I|atG/atA|rs121912298&CM034649&CM990481||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|possibly_damaging(0.837)|||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1152|1050|350|M/I|atG/atA|rs121912298&CM034649&CM990481||1||EntrezGene||||||||G|G||deleterious(0)|possibly_damaging(0.629)|||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912298&CM034649&CM990481|4485|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912298&CM034649&CM990481|1854|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912298&CM034649&CM990481|4488|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1629|||||rs121912298&CM034649&CM990481||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1748|||||rs121912298&CM034649&CM990481||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1522|||||rs121912298&CM034649&CM990481||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1&1|20301779&10364516|||||
X 154001427 NM_001363.5:c.1058C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1160|1058|353|A/V|gCg/gTg|rs121912288&CM990482||1||EntrezGene||||||||C|C||tolerated(0.41)|possibly_damaging(0.87)||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1160|1058|353|A/V|gCg/gTg|rs121912288&CM990482||1||EntrezGene||||||||C|C||tolerated_low_confidence(0.42)|benign(0.063)||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1160|1058|353|A/V|gCg/gTg|rs121912288&CM990482||1||EntrezGene||||||||C|C||tolerated(0.39)|benign(0.09)||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs121912288&CM990482|4493|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912288&CM990482|1846|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs121912288&CM990482|4496|1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1637|||||rs121912288&CM990482||1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1756|||||rs121912288&CM990482||1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1530|||||rs121912288&CM990482||1||EntrezGene||||||||C|C|||||0|0|0|0|0|0|0|0|0|pathogenic||1&1|20301779&10364516&10700698&11491307&15304085&19734544|||||
X 154001438 NM_001363.5:c.1069A>G A G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1171|1069|357|T/A|Acc/Gcc|rs137854492&CM058294||1||EntrezGene||||||||A|A||deleterious(0.04)|benign(0.099)|||||||||||pathogenic||1&1|15842668|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1171|1069|357|T/A|Acc/Gcc|rs137854492&CM058294||1||EntrezGene||||||||A|A||deleterious_low_confidence(0.05)|benign(0.026)|||||||||||pathogenic||1&1|15842668|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1171|1069|357|T/A|Acc/Gcc|rs137854492&CM058294||1||EntrezGene||||||||A|A||deleterious(0.05)|benign(0.085)|||||||||||pathogenic||1&1|15842668|||||,G|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs137854492&CM058294|4504|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|15842668|||||,G|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs137854492&CM058294|1835|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|15842668|||||,G|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs137854492&CM058294|4507|1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|15842668|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1648|||||rs137854492&CM058294||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|15842668|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1767|||||rs137854492&CM058294||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|15842668|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1541|||||rs137854492&CM058294||1||EntrezGene||||||||A|A||||||||||||||pathogenic||1&1|15842668|||||
X 154001444 NM_001363.5:c.1075G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1177|1075|359|D/N|Gac/Aac|rs199422249&CM060958||1||EntrezGene||||||||G|G||deleterious(0)|possibly_damaging(0.553)||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1177|1075|359|D/N|Gac/Aac|rs199422249&CM060958||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|possibly_damaging(0.739)||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1177|1075|359|D/N|Gac/Aac|rs199422249&CM060958||1||EntrezGene||||||||G|G||deleterious(0)|possibly_damaging(0.689)||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422249&CM060958|4510|1||EntrezGene||||||||G|G|||||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs199422249&CM060958|1829|1||EntrezGene||||||||G|G|||||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422249&CM060958|4513|1||EntrezGene||||||||G|G|||||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1654|||||rs199422249&CM060958||1||EntrezGene||||||||G|G|||||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1773|||||rs199422249&CM060958||1||EntrezGene||||||||G|G|||||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1547|||||rs199422249&CM060958||1||EntrezGene||||||||G|G|||||5.453e-06|0|0|0|0|0|1.221e-05|0|0|pathogenic||1&1|20301779|||||
X 154001502 NM_001363.5:c.1133G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1235|1133|378|R/Q|cGg/cAg|rs1057520719&CM117597||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.983)|||||||||||pathogenic&likely_pathogenic||1&1||||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1235|1133|378|R/Q|cGg/cAg|rs1057520719&CM117597||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|probably_damaging(0.949)|||||||||||pathogenic&likely_pathogenic||1&1||||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1235|1133|378|R/Q|cGg/cAg|rs1057520719&CM117597||1||EntrezGene||||||||G|G||deleterious(0)|possibly_damaging(0.671)|||||||||||pathogenic&likely_pathogenic||1&1||||||,A|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs1057520719&CM117597|4568|1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic||1&1||||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs1057520719&CM117597|1771|1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic||1&1||||||,A|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs1057520719&CM117597|4571|1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1712|||||rs1057520719&CM117597||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1831|||||rs1057520719&CM117597||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic||1&1||||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1605|||||rs1057520719&CM117597||1||EntrezGene||||||||G|G||||||||||||||pathogenic&likely_pathogenic||1&1||||||
X 154001519 NM_001363.5:c.1150C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1252|1150|384|P/S|Cca/Tca|rs199422250||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.974)|||||||||||pathogenic||1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1252|1150|384|P/S|Cca/Tca|rs199422250||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.977)|||||||||||pathogenic||1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1252|1150|384|P/S|Cca/Tca|rs199422250||1||EntrezGene||||||||C|C||deleterious(0)|possibly_damaging(0.834)|||||||||||pathogenic||1|20301779|||||,T|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422250|4585|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,T|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs199422250|1754|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,T|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422250|4588|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1729|||||rs199422250||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1848|||||rs199422250||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1622|||||rs199422250||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|20301779|||||
X 154001520 NM_001363.5:c.1151C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|11/15||||1253|1151|384|P/L|cCa/cTa|rs199422251&CM011314||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.993)|||||||||||pathogenic||1&1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|11/14||||1253|1151|384|P/L|cCa/cTa|rs199422251&CM011314||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.982)|||||||||||pathogenic||1&1|20301779|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|11/15||||1253|1151|384|P/L|cCa/cTa|rs199422251&CM011314||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.927)|||||||||||pathogenic||1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|SNORA36A|677817|Transcript|NR_002969.1|snoRNA||||||||||rs199422251&CM011314|4586|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs199422251&CM011314|1753|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|downstream_gene_variant|MODIFIER|MIR664B|100847052|Transcript|NR_049842.1|miRNA||||||||||rs199422251&CM011314|4589|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|10/14||||1730|||||rs199422251&CM011314||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|10/14||||1849|||||rs199422251&CM011314||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|11/15||||1623|||||rs199422251&CM011314||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1|20301779|||||
X 154002877 NM_001363.5:c.1156G>A G A . . CSQ=A|missense_variant&splice_region_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|12/15||||1258|1156|386|A/T|Gca/Aca|rs199422252&CM060959||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.941)|||||||||||pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs199422252&CM060959|4082|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs199422252&CM060959|4082|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs199422252&CM060959|4082|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|missense_variant&splice_region_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|12/14||||1258|1156|386|A/T|Gca/Aca|rs199422252&CM060959||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|possibly_damaging(0.561)|||||||||||pathogenic||1&1|20301779|||||,A|missense_variant&splice_region_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|12/15||||1258|1156|386|A/T|Gca/Aca|rs199422252&CM060959||1||EntrezGene||||||||G|G||deleterious(0.01)|possibly_damaging(0.603)|||||||||||pathogenic||1&1|20301779|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs199422252&CM060959|4082|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs199422252&CM060959|396|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|DKC1|1736|Transcript|NR_110021.2|misc_RNA|11/14||||1735|||||rs199422252&CM060959||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|DKC1|1736|Transcript|NR_110022.2|misc_RNA|11/14||||1854|||||rs199422252&CM060959||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|DKC1|1736|Transcript|NR_110023.2|misc_RNA|12/15||||1628|||||rs199422252&CM060959||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779|||||
X 154002914 NM_001363.5:c.1193T>C T C . . CSQ=C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|12/15||||1295|1193|398|L/P|cTg/cCg|rs199422253&CM1512416||1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.999)|||||||||||pathogenic||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs199422253&CM1512416|4045|-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs199422253&CM1512416|4045|-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs199422253&CM1512416|4045|-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|12/14||||1295|1193|398|L/P|cTg/cCg|rs199422253&CM1512416||1||EntrezGene||||||||T|T||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||pathogenic||1&1|20301779|||||,C|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|12/15||||1295|1193|398|L/P|cTg/cCg|rs199422253&CM1512416||1||EntrezGene||||||||T|T||deleterious(0)|probably_damaging(0.998)|||||||||||pathogenic||1&1|20301779|||||,C|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs199422253&CM1512416|4045|-1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs199422253&CM1512416|359|1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|11/14||||1772|||||rs199422253&CM1512416||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|11/14||||1891|||||rs199422253&CM1512416||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||,C|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|12/15||||1665|||||rs199422253&CM1512416||1||EntrezGene||||||||T|T||||||||||||||pathogenic||1&1|20301779|||||
X 154002925 NM_001363.5:c.1204G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|12/15||||1306|1204|402|G/R|Ggg/Agg|rs121912299&CM990483&COSV101054036||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)|||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs121912299&CM990483&COSV101054036|4034|-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs121912299&CM990483&COSV101054036|4034|-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs121912299&CM990483&COSV101054036|4034|-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|12/14||||1306|1204|402|G/R|Ggg/Agg|rs121912299&CM990483&COSV101054036||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|probably_damaging(0.997)|||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|12/15||||1306|1204|402|G/R|Ggg/Agg|rs121912299&CM990483&COSV101054036||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.994)|||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs121912299&CM990483&COSV101054036|4034|-1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912299&CM990483&COSV101054036|348|1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|11/14||||1783|||||rs121912299&CM990483&COSV101054036||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|11/14||||1902|||||rs121912299&CM990483&COSV101054036||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|12/15||||1676|||||rs121912299&CM990483&COSV101054036||1||EntrezGene||||||||G|G||||||||||||||pathogenic|0&0&1|1&1&1|20301779&10364516|||||
X 154002926 NM_001363.5:c.1205G>A G A . . CSQ=A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|12/15||||1307|1205|402|G/E|gGg/gAg|rs121912295&CM980561||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs121912295&CM980561|4033|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs121912295&CM980561|4033|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs121912295&CM980561|4033|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|12/14||||1307|1205|402|G/E|gGg/gAg|rs121912295&CM980561||1||EntrezGene||||||||G|G||deleterious_low_confidence(0)|probably_damaging(0.996)|||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|12/15||||1307|1205|402|G/E|gGg/gAg|rs121912295&CM980561||1||EntrezGene||||||||G|G||deleterious(0)|probably_damaging(0.991)|||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs121912295&CM980561|4033|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912295&CM980561|347|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|11/14||||1784|||||rs121912295&CM980561||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|11/14||||1903|||||rs121912295&CM980561||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||,A|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|12/15||||1677|||||rs121912295&CM980561||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|20301779&9590285&1361371|||||
X 154002947 NM_001363.5:c.1226C>T C T . . CSQ=T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|12/15||||1328|1226|409|P/L|cCt/cTt|rs121912289&CM042338&CM1310681||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(1)|||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs121912289&CM042338&CM1310681|4012|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs121912289&CM042338&CM1310681|4012|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs121912289&CM042338&CM1310681|4012|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001288747.2|protein_coding|12/14||||1328|1226|409|P/L|cCt/cTt|rs121912289&CM042338&CM1310681||1||EntrezGene||||||||C|C||deleterious_low_confidence(0)|probably_damaging(0.984)|||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|12/15||||1328|1226|409|P/L|cCt/cTt|rs121912289&CM042338&CM1310681||1||EntrezGene||||||||C|C||deleterious(0)|probably_damaging(0.964)|||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs121912289&CM042338&CM1310681|4012|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs121912289&CM042338&CM1310681|326|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|11/14||||1805|||||rs121912289&CM042338&CM1310681||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|11/14||||1924|||||rs121912289&CM042338&CM1310681||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||,T|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|12/15||||1698|||||rs121912289&CM042338&CM1310681||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1&1&1|20301779&15304085|||||
X 154002981 NM_001363.5:c.1259+1G>A G A . . CSQ=A|intron_variant|MODIFIER|DKC1|1736|Transcript|NM_001142463.3|protein_coding||12/14||||||||rs1569558616&CS083893||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs1569558616&CS083893|3978|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs1569558616&CS083893|3978|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs1569558616&CS083893|3978|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|synonymous_variant|LOW|DKC1|1736|Transcript|NM_001288747.2|protein_coding|12/14||||1362|1260|420|R|agG/agA|rs1569558616&CS083893||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|splice_donor_variant|HIGH|DKC1|1736|Transcript|NM_001363.5|protein_coding||12/14||||||||rs1569558616&CS083893||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs1569558616&CS083893|3978|-1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|upstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs1569558616&CS083893|292|1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|splice_donor_variant&non_coding_transcript_variant|HIGH|DKC1|1736|Transcript|NR_110021.2|misc_RNA||11/13||||||||rs1569558616&CS083893||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|splice_donor_variant&non_coding_transcript_variant|HIGH|DKC1|1736|Transcript|NR_110022.2|misc_RNA||11/13||||||||rs1569558616&CS083893||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||,A|splice_donor_variant&non_coding_transcript_variant|HIGH|DKC1|1736|Transcript|NR_110023.2|misc_RNA||12/14||||||||rs1569558616&CS083893||1||EntrezGene||||||||G|G||||||||||||||pathogenic||1&1|18627054|||||
X 154004468 NM_001363.5:c.1345C>G C G . . CSQ=G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001142463.3|protein_coding|14/15||||1432|1330|444|R/G|Cga/Gga|rs878853071||1||EntrezGene||||||||C|C||deleterious_low_confidence(0.02)|probably_damaging(0.992)|||||||||||pathogenic||1|25741868|||||,G|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166460.2|protein_coding||||||||||rs878853071|2491|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166461.2|protein_coding||||||||||rs878853071|2491|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_001166462.2|protein_coding||||||||||rs878853071|2491|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|3_prime_UTR_variant|MODIFIER|DKC1|1736|Transcript|NM_001288747.2|protein_coding|13/14||||1936|||||rs878853071||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|missense_variant|MODERATE|DKC1|1736|Transcript|NM_001363.5|protein_coding|14/15||||1447|1345|449|R/G|Cga/Gga|rs878853071||1||EntrezGene||||||||C|C||deleterious(0.03)|probably_damaging(0.982)|||||||||||pathogenic||1|25741868|||||,G|downstream_gene_variant|MODIFIER|MPP1|4354|Transcript|NM_002436.4|protein_coding||||||||||rs878853071|2491|-1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|downstream_gene_variant|MODIFIER|SNORA56|677835|Transcript|NR_002984.1|snoRNA||||||||||rs878853071|1067|1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110021.2|misc_RNA|13/14||||1924|||||rs878853071||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110022.2|misc_RNA|13/14||||2043|||||rs878853071||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||,G|non_coding_transcript_exon_variant|MODIFIER|DKC1|1736|Transcript|NR_110023.2|misc_RNA|14/15||||1817|||||rs878853071||1||EntrezGene||||||||C|C||||||||||||||pathogenic||1|25741868|||||