BTBD6
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA14105716181105716181+SilentSNPCCTTCGA-XF-AAMT-01A-11D-A42E-08TCGA-XF-AAMT-10A-01D-A42H-08g.chr14:105716181C>Tc.630C>Tc.(628-630)gtC>gtTp.V210V
BLCA14105716478105716478+Missense_MutationSNPCCGTCGA-E7-A97P-01A-11D-A38G-08TCGA-E7-A97P-10A-01D-A38J-08g.chr14:105716478C>Gc.927C>Gc.(925-927)caC>caGp.H309Q
BRCA14105716214105716214+SilentSNPCCTTCGA-E2-A14O-01A-31D-A10Y-09TCGA-E2-A14O-10A-01D-A110-09g.chr14:105716214C>Tc.663C>Tc.(661-663)tcC>tcTp.S221S
BRCA14105716582105716582+Missense_MutationSNPCCTTCGA-GM-A2D9-01A-11D-A18P-09TCGA-GM-A2D9-11A-42D-A18P-09g.chr14:105716582C>Tc.1031C>Tc.(1030-1032)tCt>tTtp.S344F
COAD14105716163105716163+SilentSNPGGATCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr14:105716163G>Ac.612G>Ac.(610-612)acG>acAp.T204T
COAD14105716290105716290+Missense_MutationSNPGGATCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr14:105716290G>Ac.739G>Ac.(739-741)Gtg>Atgp.V247M
COAD14105716863105716863+Missense_MutationSNPGGATCGA-AD-6889-01A-11D-1924-10TCGA-AD-6889-10A-01D-1924-10g.chr14:105716863G>Ac.1312G>Ac.(1312-1314)Ggc>Agcp.G438S
COADREAD14105716163105716163+SilentSNPGGATCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr14:105716163G>Ac.612G>Ac.(610-612)acG>acAp.T204T
COADREAD14105716290105716290+Missense_MutationSNPGGATCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr14:105716290G>Ac.739G>Ac.(739-741)Gtg>Atgp.V247M
COADREAD14105716863105716863+Missense_MutationSNPGGATCGA-AD-6889-01A-11D-1924-10TCGA-AD-6889-10A-01D-1924-10g.chr14:105716863G>Ac.1312G>Ac.(1312-1314)Ggc>Agcp.G438S
DLBC14105716854105716854+Missense_MutationSNPGGATCGA-G8-6909-01A-11D-2210-10TCGA-G8-6909-14A-01D-2210-10g.chr14:105716854G>Ac.1303G>Ac.(1303-1305)Gtc>Atcp.V435I
ESCA14105716550105716550+SilentSNPCCTTCGA-VR-A8EX-01A-11D-A36J-09TCGA-VR-A8EX-10A-01D-A36M-09g.chr14:105716550C>Tc.999C>Tc.(997-999)ctC>ctTp.L333L
ESCA14105716690105716690+Missense_MutationSNPCCATCGA-IG-A3Y9-01A-12D-A247-09TCGA-IG-A3Y9-10A-01D-A247-09g.chr14:105716690C>Ac.1139C>Ac.(1138-1140)tCt>tAtp.S380Y
HNSC14105715748105715748+SilentSNPCCTTCGA-UF-A7JH-01A-21D-A34J-08TCGA-UF-A7JH-10A-01D-A34M-08g.chr14:105715748C>Tc.358C>Tc.(358-360)Ctg>Ttgp.L120L
HNSC14105716079105716079+SilentSNPCCTTCGA-CV-6961-01A-21D-1912-08TCGA-CV-6961-10A-01D-1912-08g.chr14:105716079C>Tc.528C>Tc.(526-528)gtC>gtTp.V176V
HNSC14105716585105716585+Missense_MutationSNPCCATCGA-CV-6961-01A-21D-1912-08TCGA-CV-6961-10A-01D-1912-08g.chr14:105716585C>Ac.1034C>Ac.(1033-1035)gCc>gAcp.A345D
HNSC14105716824105716824+Missense_MutationSNPGGATCGA-MT-A67F-01A-11D-A30E-08TCGA-MT-A67F-10A-01D-A30H-08g.chr14:105716824G>Ac.1273G>Ac.(1273-1275)Gaa>Aaap.E425K
HNSC14105716856105716856+Frame_Shift_DelDELCC-TCGA-IQ-A6SG-01A-12D-A34J-08TCGA-IQ-A6SG-10A-01D-A34M-08g.chr14:105716856delCc.1305delCc.(1303-1305)gtcfsp.V435fs
KIPAN14105716270105716270+Missense_MutationSNPCCTTCGA-DZ-6134-01A-11D-1961-08TCGA-DZ-6134-10A-01D-1962-08g.chr14:105716270C>Tc.719C>Tc.(718-720)gCc>gTcp.A240V
KIPAN14105716843105716843+Missense_MutationSNPCCATCGA-B9-A8YI-01A-21D-A36X-10TCGA-B9-A8YI-10A-01D-A370-10g.chr14:105716843C>Ac.1292C>Ac.(1291-1293)aCg>aAgp.T431K
KIRP14105716270105716270+Missense_MutationSNPCCTTCGA-DZ-6134-01A-11D-1961-08TCGA-DZ-6134-10A-01D-1962-08g.chr14:105716270C>Tc.719C>Tc.(718-720)gCc>gTcp.A240V
KIRP14105716843105716843+Missense_MutationSNPCCATCGA-B9-A8YI-01A-21D-A36X-10TCGA-B9-A8YI-10A-01D-A370-10g.chr14:105716843C>Ac.1292C>Ac.(1291-1293)aCg>aAgp.T431K
LIHC14105716119105716119+Missense_MutationSNPGGATCGA-BD-A3EP-01A-11D-A22F-10TCGA-BD-A3EP-11A-12D-A22F-10g.chr14:105716119G>Ac.568G>Ac.(568-570)Gtc>Atcp.V190I
LIHC14105716439105716439+SilentSNPCCTTCGA-DD-A113-01A-11D-A12Z-10TCGA-DD-A113-10A-01D-A12Z-10g.chr14:105716439C>Tc.888C>Tc.(886-888)ggC>ggTp.G296G
LUAD14105716227105716227+Missense_MutationSNPGGATCGA-86-8673-01A-11D-2393-08TCGA-86-8673-10A-01D-2393-08g.chr14:105716227G>Ac.676G>Ac.(676-678)Gag>Aagp.E226K
LUAD14105716248105716248+Missense_MutationSNPGGATCGA-86-8673-01A-11D-2393-08TCGA-86-8673-10A-01D-2393-08g.chr14:105716248G>Ac.697G>Ac.(697-699)Gag>Aagp.E233K
LUAD14105716498105716498+Missense_MutationSNPCCTTCGA-55-A48Y-01A-11D-A24D-08TCGA-55-A48Y-10A-01D-A24F-08g.chr14:105716498C>Tc.947C>Tc.(946-948)aCg>aTgp.T316M
LUAD14105716559105716559+SilentSNPGGATCGA-86-8673-01A-11D-2393-08TCGA-86-8673-10A-01D-2393-08g.chr14:105716559G>Ac.1008G>Ac.(1006-1008)caG>caAp.Q336Q
LUAD14105716678105716678+Missense_MutationSNPAAGTCGA-55-1595-01A-01D-0969-08TCGA-55-1595-11A-01D-0969-08g.chr14:105716678A>Gc.1127A>Gc.(1126-1128)tAt>tGtp.Y376C
LUAD14105716710105716710+Missense_MutationSNPGGATCGA-86-A4JF-01A-11D-A24P-08TCGA-86-A4JF-10A-01D-A24P-08g.chr14:105716710G>Ac.1159G>Ac.(1159-1161)Gtg>Atgp.V387M
LUSC14105716320105716320+Missense_MutationSNPGGATCGA-66-2783-01A-01D-1267-08TCGA-66-2783-11A-01D-1267-08g.chr14:105716320G>Ac.769G>Ac.(769-771)Gag>Aagp.E257K
LUSC14105716777105716777+Missense_MutationSNPGGTTCGA-66-2785-01A-01D-1522-08TCGA-66-2785-11A-01D-1522-08g.chr14:105716777G>Tc.1226G>Tc.(1225-1227)gGa>gTap.G409V
PRAD14105716611105716611+Missense_MutationSNPCCTTCGA-M7-A71Y-01A-22D-A32B-08TCGA-M7-A71Y-10A-01D-A329-08g.chr14:105716611C>Tc.1060C>Tc.(1060-1062)Cgc>Tgcp.R354C
SKCM14105716494105716494+Missense_MutationSNPTTCTCGA-EE-A3AB-06A-11D-A196-08TCGA-EE-A3AB-10A-01D-A198-08g.chr14:105716494T>Cc.943T>Cc.(943-945)Tac>Cacp.Y315H
SKCM14105716968105716968+Missense_MutationSNPGGATCGA-EE-A2MR-06A-11D-A196-08TCGA-EE-A2MR-10A-01D-A198-08g.chr14:105716968G>Ac.1417G>Ac.(1417-1419)Gtc>Atcp.V473I
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BRCA-EU14105711080105711080deletion of <=200bpA-upstream_gene_variant
BRCA-EU14105711273105711273single base substitutionGCupstream_gene_variant
BRCA-EU14105713013105713013single base substitutionCTupstream_gene_variant
BRCA-EU14105713865105713865single base substitutionCAupstream_gene_variant
BRCA-EU14105714932105714932single base substitutionGC5_prime_UTR_variant
BRCA-EU14105714932105714932single base substitutionGCintron_variant
BRCA-EU14105714932105714932single base substitutionGCupstream_gene_variant
BRCA-EU14105715523105715523single base substitutionTCmissense_variantM7T20T>C
BRCA-EU14105715523105715523single base substitutionTCmissense_variantM82T245T>C
BRCA-EU14105715523105715523single base substitutionTCupstream_gene_variant
BRCA-EU14105719152105719152single base substitutionCGdownstream_gene_variant
BRCA-EU14105719735105719735single base substitutionCTdownstream_gene_variant
BRCA-EU14105720836105720836single base substitutionTCdownstream_gene_variant
BRCA-FR14105719152105719152single base substitutionCGdownstream_gene_variant
BRCA-FR14105719735105719735single base substitutionCTdownstream_gene_variant
BRCA-UK14105719358105719358single base substitutionCTdownstream_gene_variant
BRCA-US14105716214105716214single base substitutionCTexon_variant
BRCA-US14105716214105716214single base substitutionCTsynonymous_variantS146S438C>T
BRCA-US14105716214105716214single base substitutionCTsynonymous_variantS221S663C>T
BRCA-US14105716582105716582single base substitutionCTexon_variant
BRCA-US14105716582105716582single base substitutionCTmissense_variantS269F806C>T
BRCA-US14105716582105716582single base substitutionCTmissense_variantS344F1031C>T
BTCA-JP14105715454105715454single base substitutionCT5_prime_UTR_variant
BTCA-JP14105715454105715454single base substitutionCTintron_variant
BTCA-JP14105715454105715454single base substitutionCTupstream_gene_variant
COAD-US14105715515105715515single base substitutionCTsynonymous_variantN4N12C>T
COAD-US14105715515105715515single base substitutionCTsynonymous_variantN79N237C>T
COAD-US14105715515105715515single base substitutionCTupstream_gene_variant
COAD-US14105716290105716290single base substitutionGAexon_variant
COAD-US14105716290105716290single base substitutionGAmissense_variantV172M514G>A
COAD-US14105716290105716290single base substitutionGAmissense_variantV247M739G>A
COAD-US14105716863105716863single base substitutionGAdownstream_gene_variant
COAD-US14105716863105716863single base substitutionGAmissense_variantG363S1087G>A
COAD-US14105716863105716863single base substitutionGAmissense_variantG438S1312G>A
COCA-CN14105716034105716034single base substitutionCTexon_variant
COCA-CN14105716034105716034single base substitutionCTsynonymous_variantY161Y483C>T
COCA-CN14105716034105716034single base substitutionCTsynonymous_variantY86Y258C>T
COCA-CN14105716188105716188single base substitutionGAexon_variant
COCA-CN14105716188105716188single base substitutionGAmissense_variantA138T412G>A
COCA-CN14105716188105716188single base substitutionGAmissense_variantA213T637G>A
COCA-CN14105718929105718929single base substitutionGTdownstream_gene_variant
ESAD-UK14105710174105710174single base substitutionGTupstream_gene_variant
ESAD-UK14105713062105713062single base substitutionGTupstream_gene_variant
ESAD-UK14105714552105714552single base substitutionATupstream_gene_variant
ESAD-UK14105715145105715145single base substitutionGA5_prime_UTR_variant
ESAD-UK14105715145105715145single base substitutionGAupstream_gene_variant
ESAD-UK14105716418105716418single base substitutionCTexon_variant
ESAD-UK14105716418105716418single base substitutionCTsynonymous_variantT214T642C>T
ESAD-UK14105716418105716418single base substitutionCTsynonymous_variantT289T867C>T
ESAD-UK14105721264105721264single base substitutionGTdownstream_gene_variant
ESAD-UK14105721324105721324insertion of <=200bp-Cdownstream_gene_variant
ESCA-CN14105716498105716498single base substitutionCTexon_variant
ESCA-CN14105716498105716498single base substitutionCTmissense_variantT241M722C>T
ESCA-CN14105716498105716498single base substitutionCTmissense_variantT316M947C>T
ESCA-CN14105718878105718878single base substitutionCAdownstream_gene_variant
KIRP-US14105716270105716270single base substitutionCTexon_variant
KIRP-US14105716270105716270single base substitutionCTmissense_variantA165V494C>T
KIRP-US14105716270105716270single base substitutionCTmissense_variantA240V719C>T
LAML-KR14105720873105720873single base substitutionATdownstream_gene_variant
LIHC-US14105715779105715779single base substitutionCTexon_variant
LIHC-US14105715779105715779single base substitutionCTmissense_variantP130L389C>T
LIHC-US14105715779105715779single base substitutionCTmissense_variantP55L164C>T
LIHC-US14105716119105716119single base substitutionGAexon_variant
LIHC-US14105716119105716119single base substitutionGAmissense_variantV115I343G>A
LIHC-US14105716119105716119single base substitutionGAmissense_variantV190I568G>A
LIHC-US14105716439105716439single base substitutionCTexon_variant
LIHC-US14105716439105716439single base substitutionCTsynonymous_variantG221G663C>T
LIHC-US14105716439105716439single base substitutionCTsynonymous_variantG296G888C>T
LINC-JP14105715956105715956single base substitutionCTintron_variant
LINC-JP14105716608105716608single base substitutionTCexon_variant
LINC-JP14105716608105716608single base substitutionTCmissense_variantY278H832T>C
LINC-JP14105716608105716608single base substitutionTCmissense_variantY353H1057T>C
LINC-JP14105717623105717623single base substitutionAGdownstream_gene_variant
LIRI-JP14105712424105712424single base substitutionGAupstream_gene_variant
LIRI-JP14105713434105713434single base substitutionGAupstream_gene_variant
LIRI-JP14105715782105715782single base substitutionACexon_variant
LIRI-JP14105715782105715782single base substitutionACmissense_variantD131A392A>C
LIRI-JP14105715782105715782single base substitutionACmissense_variantD56A167A>C
LIRI-JP14105716160105716160single base substitutionGTexon_variant
LIRI-JP14105716160105716160single base substitutionGTsynonymous_variantL128L384G>T
LIRI-JP14105716160105716160single base substitutionGTsynonymous_variantL203L609G>T
LIRI-JP14105716635105716655deletion of <=200bpTTTGCAGTGGACAGAAGGGTA-downstream_gene_variant
LIRI-JP14105716635105716655deletion of <=200bpTTTGCAGTGGACAGAAGGGTA-inframe_deletionFAVDRRV287
LIRI-JP14105716635105716655deletion of <=200bpTTTGCAGTGGACAGAAGGGTA-inframe_deletionFAVDRRV362
LIRI-JP14105716805105716805single base substitutionTGdownstream_gene_variant
LIRI-JP14105716805105716805single base substitutionTGmissense_variantF343L1029T>G
LIRI-JP14105716805105716805single base substitutionTGmissense_variantF418L1254T>G
LIRI-JP14105717302105717302single base substitutionAG3_prime_UTR_variant
LIRI-JP14105717302105717302single base substitutionAGdownstream_gene_variant
LUSC-KR14105713973105713973single base substitutionAGupstream_gene_variant
LUSC-KR14105716034105716034single base substitutionCTexon_variant
LUSC-KR14105716034105716034single base substitutionCTsynonymous_variantY161Y483C>T
LUSC-KR14105716034105716034single base substitutionCTsynonymous_variantY86Y258C>T
LUSC-KR14105716160105716160single base substitutionGCexon_variant
LUSC-KR14105716160105716160single base substitutionGCsynonymous_variantL128L384G>C
LUSC-KR14105716160105716160single base substitutionGCsynonymous_variantL203L609G>C
LUSC-KR14105717279105717279single base substitutionTC3_prime_UTR_variant
LUSC-KR14105717279105717279single base substitutionTCdownstream_gene_variant
LUSC-KR14105717448105717448single base substitutionGCdownstream_gene_variant
LUSC-US14105716320105716320single base substitutionGAexon_variant
LUSC-US14105716320105716320single base substitutionGAmissense_variantE182K544G>A
LUSC-US14105716320105716320single base substitutionGAmissense_variantE257K769G>A
LUSC-US14105716777105716777single base substitutionGTdownstream_gene_variant
LUSC-US14105716777105716777single base substitutionGTmissense_variantG334V1001G>T
LUSC-US14105716777105716777single base substitutionGTmissense_variantG409V1226G>T
MALY-DE14105710318105710318single base substitutionCGupstream_gene_variant
MELA-AU14105710457105710457single base substitutionGAupstream_gene_variant
MELA-AU14105710556105710556single base substitutionGAupstream_gene_variant
MELA-AU14105711347105711347single base substitutionAGupstream_gene_variant
MELA-AU14105712172105712172single base substitutionGAupstream_gene_variant
MELA-AU14105712273105712273single base substitutionTGupstream_gene_variant
MELA-AU14105712601105712602multiple base substitution (>=2bp and <=200bp)GCAGupstream_gene_variant
MELA-AU14105712817105712817single base substitutionCTupstream_gene_variant
MELA-AU14105712877105712877single base substitutionGAupstream_gene_variant
MELA-AU14105713428105713428single base substitutionGAupstream_gene_variant
MELA-AU14105713700105713700single base substitutionGAupstream_gene_variant
MELA-AU14105714014105714014single base substitutionGAupstream_gene_variant
MELA-AU14105714029105714029single base substitutionAGupstream_gene_variant
MELA-AU14105714271105714271single base substitutionGAupstream_gene_variant
MELA-AU14105714297105714297single base substitutionGTupstream_gene_variant
MELA-AU14105716336105716336single base substitutionGAexon_variant
MELA-AU14105716336105716336single base substitutionGAmissense_variantR187K560G>A
MELA-AU14105716336105716336single base substitutionGAmissense_variantR262K785G>A
MELA-AU14105716494105716494single base substitutionTCexon_variant
MELA-AU14105716494105716494single base substitutionTCmissense_variantY240H718T>C
MELA-AU14105716494105716494single base substitutionTCmissense_variantY315H943T>C
MELA-AU14105718650105718650single base substitutionCTdownstream_gene_variant
ORCA-IN14105716945105716945single base substitutionCTdownstream_gene_variant
ORCA-IN14105716945105716945single base substitutionCTmissense_variantS390L1169C>T
ORCA-IN14105716945105716945single base substitutionCTmissense_variantS465L1394C>T
OV-AU14105709856105709856single base substitutionGAupstream_gene_variant
OV-AU14105712136105712136single base substitutionGAupstream_gene_variant
PACA-CA14105710774105710774single base substitutionCTupstream_gene_variant
PACA-CA14105713131105713131single base substitutionTCupstream_gene_variant
PACA-CA14105716154105716154single base substitutionCTexon_variant
PACA-CA14105716154105716154single base substitutionCTsynonymous_variantP126P378C>T
PACA-CA14105716154105716154single base substitutionCTsynonymous_variantP201P603C>T
PACA-CA14105720241105720241single base substitutionGAdownstream_gene_variant
PACA-CA14105721862105721862single base substitutionGTdownstream_gene_variant
PACA-CA14105722269105722269single base substitutionGTdownstream_gene_variant
PBCA-DE14105714860105714860single base substitutionCGintron_variant
PBCA-DE14105714860105714860single base substitutionCGupstream_gene_variant
PRAD-UK14105712449105712449single base substitutionCTupstream_gene_variant
PRAD-UK14105716441105716441single base substitutionCTexon_variant
PRAD-UK14105716441105716441single base substitutionCTmissense_variantA222V665C>T
PRAD-UK14105716441105716441single base substitutionCTmissense_variantA297V890C>T
RECA-EU14105716470105716470single base substitutionGTexon_variant
RECA-EU14105716470105716470single base substitutionGTstop_gainedE232*694G>T
RECA-EU14105716470105716470single base substitutionGTstop_gainedE307*919G>T
SKCA-BR14105712044105712044single base substitutionGAupstream_gene_variant
SKCA-BR14105714855105714855single base substitutionGAintron_variant
SKCA-BR14105714855105714855single base substitutionGAupstream_gene_variant
SKCA-BR14105714993105714993single base substitutionCG5_prime_UTR_variant
SKCA-BR14105714993105714993single base substitutionCGintron_variant
SKCA-BR14105714993105714993single base substitutionCGupstream_gene_variant
SKCA-BR14105721016105721016single base substitutionACdownstream_gene_variant
SKCM-US14105716494105716494single base substitutionTCexon_variant
SKCM-US14105716494105716494single base substitutionTCmissense_variantY240H718T>C
SKCM-US14105716494105716494single base substitutionTCmissense_variantY315H943T>C
SKCM-US14105716968105716968single base substitutionGAdownstream_gene_variant
SKCM-US14105716968105716968single base substitutionGAmissense_variantV398I1192G>A
SKCM-US14105716968105716968single base substitutionGAmissense_variantV473I1417G>A
STAD-US14105716119105716119single base substitutionGAexon_variant
STAD-US14105716119105716119single base substitutionGAmissense_variantV115I343G>A
STAD-US14105716119105716119single base substitutionGAmissense_variantV190I568G>A
STAD-US14105716187105716187single base substitutionCTexon_variant
STAD-US14105716187105716187single base substitutionCTsynonymous_variantD137D411C>T
STAD-US14105716187105716187single base substitutionCTsynonymous_variantD212D636C>T
STAD-US14105716436105716436single base substitutionCTexon_variant
STAD-US14105716436105716436single base substitutionCTsynonymous_variantN220N660C>T
STAD-US14105716436105716436single base substitutionCTsynonymous_variantN295N885C>T
STAD-US14105716569105716569single base substitutionCTexon_variant
STAD-US14105716569105716569single base substitutionCTstop_gainedR265*793C>T
STAD-US14105716569105716569single base substitutionCTstop_gainedR340*1018C>T
STAD-US14105716945105716945single base substitutionCTdownstream_gene_variant
STAD-US14105716945105716945single base substitutionCTmissense_variantS390L1169C>T
STAD-US14105716945105716945single base substitutionCTmissense_variantS465L1394C>T
THCA-SA14105713449105713449single base substitutionCTupstream_gene_variant
THCA-SA14105713973105713973single base substitutionAGupstream_gene_variant
THCA-SA14105715515105715515single base substitutionCTsynonymous_variantN4N12C>T
THCA-SA14105715515105715515single base substitutionCTsynonymous_variantN79N237C>T
THCA-SA14105715515105715515single base substitutionCTupstream_gene_variant
THCA-SA14105716034105716034single base substitutionCTexon_variant
THCA-SA14105716034105716034single base substitutionCTsynonymous_variantY161Y483C>T
THCA-SA14105716034105716034single base substitutionCTsynonymous_variantY86Y258C>T
THCA-SA14105717279105717279single base substitutionTC3_prime_UTR_variant
THCA-SA14105717279105717279single base substitutionTCdownstream_gene_variant
UCEC-US14105716288105716288single base substitutionCTexon_variant
UCEC-US14105716288105716288single base substitutionCTmissense_variantA171V512C>T
UCEC-US14105716288105716288single base substitutionCTmissense_variantA246V737C>T
UCEC-US14105716459105716459single base substitutionTCexon_variant
UCEC-US14105716459105716459single base substitutionTCmissense_variantL228P683T>C
UCEC-US14105716459105716459single base substitutionTCmissense_variantL303P908T>C
UCEC-US14105716570105716570single base substitutionGAexon_variant
UCEC-US14105716570105716570single base substitutionGAmissense_variantR265Q794G>A
UCEC-US14105716570105716570single base substitutionGAmissense_variantR340Q1019G>A
UCEC-US14105716634105716634single base substitutionGTdownstream_gene_variant
UCEC-US14105716634105716634single base substitutionGTmissense_variantQ286H858G>T
UCEC-US14105716634105716634single base substitutionGTmissense_variantQ361H1083G>T
UCEC-US14105716665105716665single base substitutionGTdownstream_gene_variant
UCEC-US14105716665105716665single base substitutionGTmissense_variantG297W889G>T
UCEC-US14105716665105716665single base substitutionGTmissense_variantG372W1114G>T
UCEC-US14105716946105716946single base substitutionGAdownstream_gene_variant
UCEC-US14105716946105716946single base substitutionGAsynonymous_variantS390S1170G>A
UCEC-US14105716946105716946single base substitutionGAsynonymous_variantS465S1395G>A
UCEC-US14105718886105718886single base substitutionGTdownstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
CRC-35TCOSM3765741c.258C>Tp.Y86YSubstitution - coding silent14:105249697-105249697+
CSCC-44-TCOSM4491942c.163C>Tp.P55SSubstitution - Missense14:105249441-105249441+
RK077_C01COSM3744247c.167A>Cp.D56ASubstitution - Missense14:105249445-105249445+
TCGA-DD-A11A-01COSM4940301c.164C>Tp.P55LSubstitution - Missense14:105249442-105249442+
TCGA-E2-A14O-01COSM432754c.438C>Tp.S146SSubstitution - coding silent14:105249877-105249877+
SK00072_MCOSM1599895c.711C>Ap.F237LSubstitution - Missense14:105250150-105250150+
TCGA-BR-A4QL-01COSM2027584c.660C>Tp.N220NSubstitution - coding silent14:105250099-105250099+
8COSM1368691c.1087G>Ap.G363SSubstitution - Missense14:105250526-105250526+
LUAD-CHTN-MAD06-00668COSM358906c.117C>Tp.A39ASubstitution - coding silent14:105249395-105249395+
TCGA-CG-5728-01COSM4049548c.793C>Tp.R265*Substitution - Nonsense14:105250232-105250232+
LUAD-S01345COSM396908c.152A>Tp.E51VSubstitution - Missense14:105249430-105249430+
TCGA-66-2783-01COSM697777c.544G>Ap.E182KSubstitution - Missense14:105249983-105249983+
CHC205TCOSM3765741c.258C>Tp.Y86YSubstitution - coding silent14:105249697-105249697+
TCGA-AD-6889-01COSM1368691c.1087G>Ap.G363SSubstitution - Missense14:105250526-105250526+
TCGA-BD-A3EP-01COSM4049546c.343G>Ap.V115ISubstitution - Missense14:105249782-105249782+
LUAD-B02216COSM335385c.839G>Tp.G280VSubstitution - Missense14:105250278-105250278+
TCGA-AP-A054-01COSM953974c.512C>Tp.A171VSubstitution - Missense14:105249951-105249951+
TCGA-BR-4184-01COSM4049547c.411C>Tp.D137DSubstitution - coding silent14:105249850-105249850+
C0038TCOSM4422767c.694G>Tp.E232*Substitution - Nonsense14:105250133-105250133+
T1154COSM4666349c.1078G>Ap.V360ISubstitution - Missense14:105250517-105250517+
SC_9047COSM5570831c.530T>Cp.V177ASubstitution - Missense14:105249969-105249969+
TCGA-D1-A17Q-01COSM953975c.683T>Cp.L228PSubstitution - Missense14:105250122-105250122+
TCGA-AP-A059-01COSM953979c.1170G>Ap.S390SSubstitution - coding silent14:105250609-105250609+
TCGA-AP-A0LM-01COSM953976c.794G>Ap.R265QSubstitution - Missense14:105250233-105250233+
TCGA-BR-6452-01COSM4049549c.1169C>Tp.S390LSubstitution - Missense14:105250608-105250608+
PTC-7CCOSM3765741c.258C>Tp.Y86YSubstitution - coding silent14:105249697-105249697+
TCGA-AP-A0LI-01COSM953978c.889G>Tp.G297WSubstitution - Missense14:105250328-105250328+
HCC78TCOSM1607430c.832T>Cp.Y278HSubstitution - Missense14:105250271-105250271+
ESCC-210TCOSM3936437c.722C>Tp.T241MSubstitution - Missense14:105250161-105250161+
TCGA-GM-A2D9-01COSM3814365c.806C>Tp.S269FSubstitution - Missense14:105250245-105250245+
TCGA-F4-6463-01COSM432753c.12C>Tp.N4NSubstitution - coding silent14:105249178-105249178+
TCGA-66-2785-01COSM697776c.1001G>Tp.G334VSubstitution - Missense14:105250440-105250440+
sysucc-1397TCOSM2027577c.412G>Ap.A138TSubstitution - Missense14:105249851-105249851+
WM3211COSM3727204c.941T>Cp.I314TSubstitution - Missense14:105250380-105250380+
TCGA-DD-A113-01COSM4925161c.663C>Tp.G221GSubstitution - coding silent14:105250102-105250102+
T3080COSM4666347c.1038G>Ap.P346PSubstitution - coding silent14:105250477-105250477+
Pat_59_BCOSM5847703c.1118G>Ap.G373ESubstitution - Missense14:105250557-105250557+
ATL010COSM5705648c.688C>Gp.L230VSubstitution - Missense14:105250127-105250127+
TCGA-DZ-6134-01COSM3987536c.494C>Tp.A165VSubstitution - Missense14:105249933-105249933+
RK065_C01COSM1629223c.1029T>Gp.F343LSubstitution - Missense14:105250468-105250468+
T3236COSM4666345c.392G>Ap.R131HSubstitution - Missense14:105249831-105249831+
TCGA-EE-A3AB-06COSM3494279c.718T>Cp.Y240HSubstitution - Missense14:105250157-105250157+
SJHGG010_DCOSM4969071c.780G>Ap.P260PSubstitution - coding silent14:105250219-105250219+
I2L-P19Ta-Tumor-BiopsyCOSM5362486c.304A>Gp.N102DSubstitution - Missense14:105249743-105249743+
EGC15COSM5053831c.361C>Tp.R121WSubstitution - Missense14:105249800-105249800+
pfg008TCOSM1640027c.958G>Ap.G320RSubstitution - Missense14:105250397-105250397+
276TCOSM1727470c.1037C>Tp.P346LSubstitution - Missense14:105250476-105250476+
TCGA-BR-8487-01COSM4049546c.343G>Ap.V115ISubstitution - Missense14:105249782-105249782+
TCGA-AA-3492-01COSM1368690c.514G>Ap.V172MSubstitution - Missense14:105249953-105249953+
I2L-P19Ta-Tumor-OrganoidCOSM5362486c.304A>Gp.N102DSubstitution - Missense14:105249743-105249743+
TCGA-EE-A2MR-06COSM3494280c.1192G>Ap.V398ISubstitution - Missense14:105250631-105250631+
ESCC_30COSM5627625c.1067C>Tp.T356MSubstitution - Missense14:105250506-105250506+
HCC78COSM1607430c.832T>Cp.Y278HSubstitution - Missense14:105250271-105250271+
TCGA-AP-A051-01COSM953977c.858G>Tp.Q286HSubstitution - Missense14:105250297-105250297+
ESCC_11COSM5624287c.942T>Ap.I314ISubstitution - coding silent14:105250381-105250381+
CLL083COSM1290267c.786G>Ap.R262RSubstitution - coding silent14:105250225-105250225+
OSCC-GB_01050111COSM4049549c.1169C>Tp.S390LSubstitution - Missense14:105250608-105250608+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.736714q322422342|CGAP|BC042525|C/T|non-coding||1805|Validated;
2422343|CGAP|BC042525|A/T|non-coding||1812|Candidate
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.Y376Cc.1127A>G14105716678LUAD
CAMissensep.A345Dc.1034C>A14105716585HNSC
CTMissensep.A246Vc.737C>T14105716288UCEC
CTMissensep.R352Wc.1054C>T14105716605BRCA
CTNonsensep.R340*c.1018C>T14105716569STAD
GAMissensep.E257Kc.769G>A14105716320LUSC
GAMissensep.G395Rc.1183G>A14105716734STAD
GANonsensep.W417*c.1251G>A14105716802CM
GTMissensep.G372Wc.1114G>T14105716665UCEC
TCMissensep.Y315Hc.943T>C14105716494CM