• TCGA
  • ICGC
  • CGAP
  • IntOGen
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TCGA
ProjectGenome ChangecDNA ChangeCodon ChangeProtein ChangeChrStartEndStrandVariant ClassificationVariant TypeTumor Sample BarcodeMatched Norm Sample Barcode
BRCA22:46202962 G>C224620296246202962+IntronSNPTCGA-AN-A0FL-01A-11W-A050-09TCGA-AN-A0FL-10A-01W-A055-09
BRCA22:46136266 C>Tc.1021 C>Tc. (1021-1023)Cat>Tatp.H341Y224613626646136266+Missense_MutationSNPTCGA-BH-A0DZ-01A-11W-A019-09TCGA-BH-A0DZ-10A-01W-A021-09
BRCA22:46136266 C>Tc.1021 C>Tc. (1021-1023)Cat>Tatp.H341Y224613626646136266+Missense_MutationSNPTCGA-BH-A0DZ-01A-11W-A019-09TCGA-BH-A0DZ-11A-22W-A100-09
BRCA22:46202974 A>C224620297446202974+IntronSNPTCGA-BH-A18G-01A-11D-A12B-09TCGA-BH-A18G-10A-01D-A12B-09
CESC22:46189627 G>A224618962746189627+IntronSNPTCGA-C5-A1M9-01A-11D-A13W-08TCGA-C5-A1M9-10A-01D-A13W-08
CHOL22:46125305 A>Gc.729 A>Gc. (727-729)ag A>agGp.R243R224612530546125305+Splice_SiteSNPTCGA-W5-AA39-01A-11D-A417-09TCGA-W5-AA39-10A-01D-A41A-09
CHOL22:46125307 T>Gc.731 T>Gc. (730-732)gTt>gGtp.V244G224612530746125307+Missense_MutationSNPTCGA-W5-AA39-01A-11D-A417-09TCGA-W5-AA39-10A-01D-A41A-09
COAD22:46238953 G>Tc.1320 G>Tc. (1318-1320)ga G>gaTp.E440D224623895346238953+Missense_MutationSNPTCGA-AA-3525-01A-02W-0833-10TCGA-AA-3525-10A-01W-0833-10
COAD22:46239016 C>Tc.1383 C>Tc. (1381-1383)gg C>ggTp.G461G224623901646239016+SilentSNPTCGA-AA-3811-01A-01W-0995-10TCGA-AA-3811-10A-01W-0995-10
COADREAD22:46238953 G>Tc.1320 G>Tc. (1318-1320)ga G>gaTp.E440D224623895346238953+Missense_MutationSNPTCGA-AA-3525-01A-02W-0833-10TCGA-AA-3525-10A-01W-0833-10
COADREAD22:46239016 C>Tc.1383 C>Tc. (1381-1383)gg C>ggTp.G461G224623901646239016+SilentSNPTCGA-AA-3811-01A-01W-0995-10TCGA-AA-3811-10A-01W-0995-10
ESCA22:46098580 A>Gc.500 A>Gc. (499-501)aAt>aGtp.N167S224609858046098580+Missense_MutationSNPTCGA-LN-A49U-01A-31D-A27G-09TCGA-LN-A49U-10A-01D-A27G-09
ESCA22:46136258 G>Cc.1013 G>Cc. (1012-1014)cGg>cCgp.R338P224613625846136258+Missense_MutationSNPTCGA-LN-A49Y-01A-11D-A27G-09TCGA-LN-A49Y-10A-01D-A27G-09
ESCA22:46125395 G>Tc.819 G>Tc. (817-819)ga G>gaTp.E273D224612539546125395+Missense_MutationSNPTCGA-LN-A7HX-01A-11D-A33E-09TCGA-LN-A7HX-10A-01D-A33H-09
ESCA22:46098707 A>Tc.627 A>Tc. (625-627)aa A>aaTp.K209N224609870746098707+Missense_MutationSNPTCGA-XP-A8T7-01A-11D-A36J-09TCGA-XP-A8T7-10A-01D-A36M-09
HNSC22:46088932 G>Ac.365 G>Ac. (364-366)cGa>cAap.R122Q224608893246088932+Missense_MutationSNPTCGA-CN-6012-01A-11D-1683-08TCGA-CN-6012-10A-01D-1683-08
HNSC22:46114314 C>Tc.669 C>Tc. (667-669)ct C>ctTp.L223L224611431446114314+SilentSNPTCGA-CV-5432-01A-02D-1683-08TCGA-CV-5432-10A-01D-1870-08
HNSC22:46088947 C>Gc.380 C>Gc. (379-381)tCt>tGtp.S127C224608894746088947+Missense_MutationSNPTCGA-CX-7086-01A-11D-2078-08TCGA-CX-7086-10D-01D-2078-08
LUSC22:46136353 T>Cc.1108 T>Cc. (1108-1110)Ttt>Cttp.F370L224613635346136353+Missense_MutationSNPTCGA-18-3409-01A-01D-0983-08TCGA-18-3409-11A-01D-0983-08
LUSC22:46085626 C>Ac.151 C>Ac. (151-153)Ctg>Atgp.L51M224608562646085626+Missense_MutationSNPTCGA-33-4566-01A-01D-1441-08TCGA-33-4566-11A-01D-1441-08
LUSC22:46088935 T>Cc.368 T>Cc. (367-369)gTg>gCgp.V123A224608893546088935+Missense_MutationSNPTCGA-33-4583-01A-01D-1441-08TCGA-33-4583-11A-01D-1441-08
OV22:46088947 C>Gc.380 C>Gc. (379-381)tCt>tGtp.S127C224608894746088947+Missense_MutationSNPTCGA-04-1367-01TCGA-04-1367-10
PAAD22:46098600 G>Ac.520 G>Ac. (520-522)Gtt>Attp.V174I224609860046098600+Missense_MutationSNPTCGA-HZ-A77O-01A-11D-A33T-08TCGA-HZ-A77O-10A-01D-A33W-08
PAAD22:46125440 G>Ac.864 G>Ac. (862-864)aa G>aaAp.K288K224612544046125440+SilentSNPTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08
SKCM22:46085648 C>Tc.173 C>Tc. (172-174)tCt>tTtp.S58F224608564846085648+Missense_MutationSNPTCGA-D3-A51T-06A-11D-A25O-08TCGA-D3-A51T-10A-01D-A25O-08
SKCM22:46136371 C>Tc.1126 C>Tc. (1126-1128)Cgt>Tgtp.R376C224613637146136371+Missense_MutationSNPTCGA-D3-A5GN-06A-11D-A27K-08TCGA-D3-A5GN-10A-01D-A27N-08
SKCM22:46238906 C>Tc.1273 C>Tc. (1273-1275)Ctt>Tttp.L425F224623890646238906+Missense_MutationSNPTCGA-D9-A6EC-06A-11D-A30X-08TCGA-D9-A6EC-10A-01D-A30X-08
SKCM22:46085626 C>Ac.151 C>Ac. (151-153)Ctg>Atgp.L51M224608562646085626+Missense_MutationSNPTCGA-EE-A181-06A-11D-A196-08TCGA-EE-A181-10A-01D-A198-08
SKCM22:46134706 G>Ac.990 G>Ac. (988-990)ct G>ctAp.L330L224613470646134706+SilentSNPTCGA-FS-A1ZC-06A-11D-A197-08TCGA-FS-A1ZC-10A-01D-A199-08
SKCM22:46096167 C>Tc.397 C>Tc. (397-399)Cgc>Tgcp.R133C224609616746096167+Missense_MutationSNPTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08
SKCM22:46202900 C>Tc.1235 C>Tc. (1234-1236)cCc>cTcp.P412L224620290046202900+Missense_MutationSNPTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08
SKCM22:46096167 C>Tc.397 C>Tc. (397-399)Cgc>Tgcp.R133C224609616746096167+Missense_MutationSNPTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-11A-11D-A23B-08
SKCM22:46202900 C>Tc.1235 C>Tc. (1234-1236)cCc>cTcp.P412L224620290046202900+Missense_MutationSNPTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-11A-11D-A23B-08
STAD22:46136420 T>Cc.e9+2224613642046136420+Splice_SiteSNPTCGA-BR-4362-01A-01D-1158-08TCGA-BR-4362-11A-01D-1158-08
STAD22:46085740 C>Tc.265 C>Tc. (265-267)Cgc>Tgcp.R89C224608574046085740+Missense_MutationSNPTCGA-BR-4370-01A-01D-1158-08TCGA-BR-4370-11A-01D-1158-08
STAD22:46125340 C>Tc.764 C>Tc. (763-765)aCg>aTgp.T255M224612534046125340+Missense_MutationSNPTCGA-BR-A4PE-01A-31D-A25D-08TCGA-BR-A4PE-10A-01D-A25E-08
STAD22:46125373 C>Gc.797 C>Gc. (796-798)cCt>cGtp.P266R224612537346125373+Missense_MutationSNPTCGA-CG-5718-01A-11D-1600-08TCGA-CG-5718-10A-01D-1600-08
STAD22:46134638 G>Ac.922 G>Ac. (922-924)Gac>Aacp.D308N224613463846134638+Missense_MutationSNPTCGA-D7-A4YV-01A-11D-A25D-08TCGA-D7-A4YV-10A-01D-A25E-08
STAD22:46096163 T>Cc.393 T>Cc. (391-393)gc T>gcCp.A131A224609616346096163+Splice_SiteSNPTCGA-HU-A4GN-01A-11D-A25D-08TCGA-HU-A4GN-10A-01D-A25E-08
STAD22:46114329 G>Ac.684 G>Ac. (682-684)cc G>ccAp.P228P224611432946114329+SilentSNPTCGA-HU-A4H4-01A-21D-A25D-08TCGA-HU-A4H4-11A-11D-A25E-08
STES22:46136420 T>Cc.e9+2224613642046136420+Splice_SiteSNPTCGA-BR-4362-01A-01D-1158-08TCGA-BR-4362-11A-01D-1158-08
STES22:46085740 C>Tc.265 C>Tc. (265-267)Cgc>Tgcp.R89C224608574046085740+Missense_MutationSNPTCGA-BR-4370-01A-01D-1158-08TCGA-BR-4370-11A-01D-1158-08
STES22:46125340 C>Tc.764 C>Tc. (763-765)aCg>aTgp.T255M224612534046125340+Missense_MutationSNPTCGA-BR-A4PE-01A-31D-A25D-08TCGA-BR-A4PE-10A-01D-A25E-08
STES22:46125373 C>Gc.797 C>Gc. (796-798)cCt>cGtp.P266R224612537346125373+Missense_MutationSNPTCGA-CG-5718-01A-11D-1600-08TCGA-CG-5718-10A-01D-1600-08
STES22:46134638 G>Ac.922 G>Ac. (922-924)Gac>Aacp.D308N224613463846134638+Missense_MutationSNPTCGA-D7-A4YV-01A-11D-A25D-08TCGA-D7-A4YV-10A-01D-A25E-08
STES22:46096163 T>Cc.393 T>Cc. (391-393)gc T>gcCp.A131A224609616346096163+Splice_SiteSNPTCGA-HU-A4GN-01A-11D-A25D-08TCGA-HU-A4GN-10A-01D-A25E-08
STES22:46114329 G>Ac.684 G>Ac. (682-684)cc G>ccAp.P228P224611432946114329+SilentSNPTCGA-HU-A4H4-01A-21D-A25D-08TCGA-HU-A4H4-11A-11D-A25E-08
STES22:46098580 A>Gc.500 A>Gc. (499-501)aAt>aGtp.N167S224609858046098580+Missense_MutationSNPTCGA-LN-A49U-01A-31D-A27G-09TCGA-LN-A49U-10A-01D-A27G-09
STES22:46136258 G>Cc.1013 G>Cc. (1012-1014)cGg>cCgp.R338P224613625846136258+Missense_MutationSNPTCGA-LN-A49Y-01A-11D-A27G-09TCGA-LN-A49Y-10A-01D-A27G-09
STES22:46125395 G>Tc.819 G>Tc. (817-819)ga G>gaTp.E273D224612539546125395+Missense_MutationSNPTCGA-LN-A7HX-01A-11D-A33E-09TCGA-LN-A7HX-10A-01D-A33H-09
STES22:46098707 A>Tc.627 A>Tc. (625-627)aa A>aaTp.K209N224609870746098707+Missense_MutationSNPTCGA-XP-A8T7-01A-11D-A36J-09TCGA-XP-A8T7-10A-01D-A36M-09
UCEC22:46096205 G>Ac.435 G>Ac. (433-435)cg G>cgAp.R145R224609620546096205+SilentSNPTCGA-AP-A056-01A-11W-A027-09TCGA-AP-A056-10A-01W-A027-09
UCEC22:46189558 G>T224618955846189558+IntronSNPTCGA-AP-A056-01A-11W-A027-09TCGA-AP-A056-10A-01W-A027-09
UCEC22:46085606 G>Tc.131 G>Tc. (130-132)aGg>aTgp.R44M224608560646085606+Missense_MutationSNPTCGA-AP-A059-01A-21D-A122-09TCGA-AP-A059-10A-01D-A122-09
UCEC22:46085692 A>Cc.217 A>Cc. (217-219)Aac>Cacp.N73H224608569246085692+Missense_MutationSNPTCGA-AP-A0LM-01A-11D-A122-09TCGA-AP-A0LM-10A-01D-A122-09
UCEC22:46098594 A>Tc.514 A>Tc. (514-516)Aaa>Taap.K172*224609859446098594+Nonsense_MutationSNPTCGA-AX-A05Z-01A-11W-A027-09TCGA-AX-A05Z-10A-01W-A027-09
UCEC22:46136386 C>Ac.1141 C>Ac. (1141-1143)Ctg>Atgp.L381M224613638646136386+Missense_MutationSNPTCGA-B5-A0JY-01A-11D-A10B-09TCGA-B5-A0JY-10A-01D-A10O-09


ICGC
MutationProjectAA MutationCDS MutationChromosomeStartEndTypeConsequence
MU65679832BRCA-EUA147P439 G>C224620760046207600Single base substitutionMissense_variant
MU1672378BRCA-EUS63C188 C>G224608894746088947Single base substitutionMissense_variant
MU1672378BRCA-EUS127C380 C>G224608894746088947Single base substitutionMissense_variant
MU65637041BRCA-EUE186Q556 G>C224621906046219060Single base substitutionMissense_variant
MU66888060BRCA-EUG321S961 G>A224613467746134677Single base substitutionMissense_variant
MU66888060BRCA-EUG73S217 G>A224613467746134677Single base substitutionMissense_variant
MU66888060BRCA-EUG257S769 G>A224613467746134677Single base substitutionMissense_variant
MU66888060BRCA-EUG20S58 G>A224613467746134677Single base substitutionMissense_variant
MU65637041BRCA-FRE186Q556 G>C224621906046219060Single base substitutionMissense_variant
MU21782BRCA-USV132L394 G>C224620296246202962Single base substitutionMissense_variant
MU36454BRCA-USH40Y118 C>T224613626646136266Single base substitutionMissense_variant
MU36454BRCA-USH93Y277 C>T224613626646136266Single base substitutionMissense_variant
MU36454BRCA-USH341Y1021 C>T224613626646136266Single base substitutionMissense_variant
MU36454BRCA-USH277Y829 C>T224613626646136266Single base substitutionMissense_variant
MU5281606BRCA-USM136L406 A>C224620297446202974Single base substitutionMissense_variant
MU40822239BTCA-JPE398K1192 G>A224623901746239017Single base substitutionMissense_variant
MU40822239BTCA-JPE462K1384 G>A224623901746239017Single base substitutionMissense_variant
MU40822239BTCA-JPE113K337 G>A224623901746239017Single base substitutionMissense_variant
MU41229853BTCA-JPP4H11 C>A224606795446067954Single base substitutionMissense_variant
MU28732776CESC-USR32Q95 G>A224618962746189627Single base substitutionMissense_variant
MU50327CLLE-EST55K164 C>A224613462446134624Single base substitutionMissense_variant
MU50327CLLE-EST2K5 C>A224613462446134624Single base substitutionMissense_variant
MU50327CLLE-EST239K716 C>A224613462446134624Single base substitutionMissense_variant
MU50327CLLE-EST303K908 C>A224613462446134624Single base substitutionMissense_variant
MU154938COAD-USC356C1068 C>T224613631346136313Single base substitutionSynonymous_variant
MU154938COAD-USC55C165 C>T224613631346136313Single base substitutionSynonymous_variant
MU154938COAD-USC292C876 C>T224613631346136313Single base substitutionSynonymous_variant
MU154938COAD-USC108C324 C>T224613631346136313Single base substitutionSynonymous_variant
MU2187452COAD-USD170E?224609859046098590Insertion of <=200bpFrameshift_variant
MU2187452COAD-USD106E?224609859046098590Insertion of <=200bpFrameshift_variant
MU82819COAD-USR81W241 C>T224609620346096203Single base substitutionMissense_variant
MU82819COAD-USR145W433 C>T224609620346096203Single base substitutionMissense_variant
MU148425COAD-USD7N19 G>A224613463846134638Single base substitutionMissense_variant
MU148425COAD-USD244N730 G>A224613463846134638Single base substitutionMissense_variant
MU148425COAD-USD60N178 G>A224613463846134638Single base substitutionMissense_variant
MU148425COAD-USD308N922 G>A224613463846134638Single base substitutionMissense_variant
MU92026229COAD-USE427K1279 G>A224623891246238912Single base substitutionMissense_variant
MU92026229COAD-USE78K232 G>A224623891246238912Single base substitutionMissense_variant
MU92026229COAD-USE363K1087 G>A224623891246238912Single base substitutionMissense_variant
MU41221104COCA-CNK451*1351 A>T224623898446238984Single base substitutionStop_gained
MU41221104COCA-CNK102*304 A>T224623898446238984Single base substitutionStop_gained
MU41221104COCA-CNK387*1159 A>T224623898446238984Single base substitutionStop_gained
MU48640408COCA-CNK55N165 G>T224608564046085640Single base substitutionMissense_variant
MU50371696COCA-CNV109M325 G>A224613631446136314Single base substitutionMissense_variant
MU50371696COCA-CNV293M877 G>A224613631446136314Single base substitutionMissense_variant
MU50371696COCA-CNV357M1069 G>A224613631446136314Single base substitutionMissense_variant
MU50371696COCA-CNV56M166 G>A224613631446136314Single base substitutionMissense_variant
MU51469495COCA-CNS149P445 T>C224609621546096215Single base substitutionMissense_variant
MU51469495COCA-CNS85P253 T>C224609621546096215Single base substitutionMissense_variant
MU47077312COCA-CNR89H266 G>A224608574146085741Single base substitutionMissense_variant
MU97748825ESAD-UKR37Q110 G>A224613625846136258Single base substitutionMissense_variant
MU97748825ESAD-UKR274Q821 G>A224613625846136258Single base substitutionMissense_variant
MU97748825ESAD-UKR338Q1013 G>A224613625846136258Single base substitutionMissense_variant
MU97748825ESAD-UKR90Q269 G>A224613625846136258Single base substitutionMissense_variant
MU11390220ESAD-UKP119P357 A>G224620292546202925Single base substitutionSynonymous_variant
MU87541855ESAD-UKN117S350 A>G224613633946136339Single base substitutionMissense_variant
MU87541855ESAD-UKN64S191 A>G224613633946136339Single base substitutionMissense_variant
MU87541855ESAD-UKN365S1094 A>G224613633946136339Single base substitutionMissense_variant
MU87541855ESAD-UKN301S902 A>G224613633946136339Single base substitutionMissense_variant
MU751958HNSC-USL223L669 C>T224611431446114314Single base substitutionSynonymous_variant
MU751958HNSC-USL159L477 C>T224611431446114314Single base substitutionSynonymous_variant
MU1672378HNSC-USS63C188 C>G224608894746088947Single base substitutionMissense_variant
MU1672378HNSC-USS127C380 C>G224608894746088947Single base substitutionMissense_variant
MU91614116LGG-USI113V337 A>G224620290546202905Single base substitutionMissense_variant
MU63376780LICA-CNI152V454 A>G224609622446096224Single base substitutionMissense_variant
MU63376780LICA-CNI88V262 A>G224609622446096224Single base substitutionMissense_variant
MU30004995LICA-FRI62V184 A>G224613633246136332Single base substitutionMissense_variant
MU30004995LICA-FRI115V343 A>G224613633246136332Single base substitutionMissense_variant
MU30004995LICA-FRI363V1087 A>G224613633246136332Single base substitutionMissense_variant
MU30004995LICA-FRI299V895 A>G224613633246136332Single base substitutionMissense_variant
MU30083189LICA-FRS12S36 G>T224606797946067979Single base substitutionSynonymous_variant
MU81694995LICA-FRR19R57 G>A224618958946189589Single base substitutionSynonymous_variant
MU3396010LIRI-JPA147A441 A>G224620760246207602Single base substitutionSynonymous_variant
MU1325992LUSC-USF122L364 T>C224613635346136353Single base substitutionMissense_variant
MU1325992LUSC-USF370L1108 T>C224613635346136353Single base substitutionMissense_variant
MU1325992LUSC-USF306L916 T>C224613635346136353Single base substitutionMissense_variant
MU1325992LUSC-USF69L205 T>C224613635346136353Single base substitutionMissense_variant
MU1329653LUSC-USL51M151 C>A224608562646085626Single base substitutionMissense_variant
MU1317284LUSC-USV123A368 T>C224608893546088935Single base substitutionMissense_variant
MU1317284LUSC-USV59A176 T>C224608893546088935Single base substitutionMissense_variant
MU83126894MALY-DEW417L1250 G>T224623888346238883Single base substitutionMissense_variant
MU83126894MALY-DEW68L203 G>T224623888346238883Single base substitutionMissense_variant
MU83126894MALY-DEW353L1058 G>T224623888346238883Single base substitutionMissense_variant
MU28513656ORCA-IND48Y142 G>T224612546246125462Single base substitutionMissense_variant
MU28513656ORCA-IND296Y886 G>T224612546246125462Single base substitutionMissense_variant
MU28513656ORCA-IND232Y694 G>T224612546246125462Single base substitutionMissense_variant
MU67950915ORCA-IND446N1336 G>A224623896946238969Single base substitutionMissense_variant
MU67950915ORCA-IND97N289 G>A224623896946238969Single base substitutionMissense_variant
MU67950915ORCA-IND382N1144 G>A224623896946238969Single base substitutionMissense_variant
MU3882661OV-AUH11Y31 C>T224618956346189563Single base substitutionMissense_variant
MU1672378OV-USS63C188 C>G224608894746088947Single base substitutionMissense_variant
MU1672378OV-USS127C380 C>G224608894746088947Single base substitutionMissense_variant
MU1694630PACA-CAR423*1267 C>T224623890046238900Single base substitutionStop_gained
MU1694630PACA-CAR359*1075 C>T224623890046238900Single base substitutionStop_gained
MU1694630PACA-CAR74*220 C>T224623890046238900Single base substitutionStop_gained
MU84629942PBCA-DES408T1223 G>C224620288846202888Single base substitutionMissense_variant
MU84629942PBCA-DES160T479 G>C224620288846202888Single base substitutionMissense_variant
MU84629942PBCA-DES344T1031 G>C224620288846202888Single base substitutionMissense_variant
MU84629942PBCA-DES107T320 G>C224620288846202888Single base substitutionMissense_variant
MU84629942PBCA-DES59T176 G>C224620288846202888Single base substitutionMissense_variant
MU751958PBCA-DEL223L669 C>T224611431446114314Single base substitutionSynonymous_variant
MU751958PBCA-DEL159L477 C>T224611431446114314Single base substitutionSynonymous_variant
MU1698742PBCA-DEN176H526 A>C224611436346114363Single base substitutionMissense_variant
MU1698742PBCA-DEN240H718 A>C224611436346114363Single base substitutionMissense_variant
MU56557250PRAD-UKL289M865 C>A224612544146125441Single base substitutionMissense_variant
MU56557250PRAD-UKL225M673 C>A224612544146125441Single base substitutionMissense_variant
MU56557250PRAD-UKL41M121 C>A224612544146125441Single base substitutionMissense_variant
MU1799669READ-UST66A196 A>G224613465646134656Single base substitutionMissense_variant
MU1799669READ-UST314A940 A>G224613465646134656Single base substitutionMissense_variant
MU1799669READ-UST250A748 A>G224613465646134656Single base substitutionMissense_variant
MU1799669READ-UST13A37 A>G224613465646134656Single base substitutionMissense_variant
MU1799668READ-USK127N381 A>C224609865346098653Single base substitutionMissense_variant
MU1799668READ-USK191N573 A>C224609865346098653Single base substitutionMissense_variant
MU1798050READ-USE64K190 G>A224613465046134650Single base substitutionMissense_variant
MU1798050READ-USE11K31 G>A224613465046134650Single base substitutionMissense_variant
MU1798050READ-USE312K934 G>A224613465046134650Single base substitutionMissense_variant
MU1798050READ-USE248K742 G>A224613465046134650Single base substitutionMissense_variant
MU751970READ-USE229K685 G>A224611433046114330Single base substitutionMissense_variant
MU751970READ-USE165K493 G>A224611433046114330Single base substitutionMissense_variant
MU94408658RECA-EUT245T735 A>C224612531146125311Single base substitutionSynonymous_variant
MU94408658RECA-EUT181T543 A>C224612531146125311Single base substitutionSynonymous_variant
MU4531657SKCM-USR69C205 C>T224609616746096167Single base substitutionMissense_variant
MU4531657SKCM-USR133C397 C>T224609616746096167Single base substitutionMissense_variant
MU4531655SKCM-USP164L491 C>T224620290046202900Single base substitutionMissense_variant
MU4531655SKCM-USP111L332 C>T224620290046202900Single base substitutionMissense_variant
MU4531655SKCM-USP412L1235 C>T224620290046202900Single base substitutionMissense_variant
MU4531655SKCM-USP348L1043 C>T224620290046202900Single base substitutionMissense_variant
MU4531655SKCM-USP63L188 C>T224620290046202900Single base substitutionMissense_variant
MU4433640SKCM-USL82L246 G>A224613470646134706Single base substitutionSynonymous_variant
MU4433640SKCM-USL29L87 G>A224613470646134706Single base substitutionSynonymous_variant
MU4433640SKCM-USL266L798 G>A224613470646134706Single base substitutionSynonymous_variant
MU4433640SKCM-USL330L990 G>A224613470646134706Single base substitutionSynonymous_variant
MU1329653SKCM-USL51M151 C>A224608562646085626Single base substitutionMissense_variant
MU13636295SKCM-USL76F226 C>T224623890646238906Single base substitutionMissense_variant
MU13636295SKCM-USL361F1081 C>T224623890646238906Single base substitutionMissense_variant
MU13636295SKCM-USL425F1273 C>T224623890646238906Single base substitutionMissense_variant
MU4363133SKCM-USR128C382 C>T224613637146136371Single base substitutionMissense_variant
MU4363133SKCM-USR376C1126 C>T224613637146136371Single base substitutionMissense_variant
MU4363133SKCM-USR312C934 C>T224613637146136371Single base substitutionMissense_variant
MU4363133SKCM-USR75C223 C>T224613637146136371Single base substitutionMissense_variant
MU4402840SKCM-USS58F173 C>T224608564846085648Single base substitutionMissense_variant
MU5802394STAD-USR89C265 C>T224608574046085740Single base substitutionMissense_variant
MU148425STAD-USD7N19 G>A224613463846134638Single base substitutionMissense_variant
MU148425STAD-USD244N730 G>A224613463846134638Single base substitutionMissense_variant
MU148425STAD-USD60N178 G>A224613463846134638Single base substitutionMissense_variant
MU148425STAD-USD308N922 G>A224613463846134638Single base substitutionMissense_variant
MU5802425STAD-UST191M572 C>T224612534046125340Single base substitutionMissense_variant
MU5802425STAD-UST7M20 C>T224612534046125340Single base substitutionMissense_variant
MU5802425STAD-UST255M764 C>T224612534046125340Single base substitutionMissense_variant
MU5802409STAD-USP228P684 G>A224611432946114329Single base substitutionSynonymous_variant
MU5802409STAD-USP164P492 G>A224611432946114329Single base substitutionSynonymous_variant
MU5802445STAD-USP18R53 C>G224612537346125373Single base substitutionMissense_variant
MU5802445STAD-USP266R797 C>G224612537346125373Single base substitutionMissense_variant
MU5802445STAD-USP202R605 C>G224612537346125373Single base substitutionMissense_variant
MU1953221UCEC-USK108*322 A>T224609859446098594Single base substitutionStop_gained
MU1953221UCEC-USK172*514 A>T224609859446098594Single base substitutionStop_gained
MU1913150UCEC-USN73H217 A>C224608569246085692Single base substitutionMissense_variant
MU1905054UCEC-USL80M238 C>A224613638646136386Single base substitutionMissense_variant
MU1905054UCEC-USL133M397 C>A224613638646136386Single base substitutionMissense_variant
MU1905054UCEC-USL317M949 C>A224613638646136386Single base substitutionMissense_variant
MU1905054UCEC-USL381M1141 C>A224613638646136386Single base substitutionMissense_variant
MU1930858UCEC-USR44M131 G>T224608560646085606Single base substitutionMissense_variant
MU91660884UCEC-USI39V115 A>G224613626346136263Single base substitutionMissense_variant
MU91660884UCEC-USI340V1018 A>G224613626346136263Single base substitutionMissense_variant
MU91660884UCEC-USI276V826 A>G224613626346136263Single base substitutionMissense_variant
MU91660884UCEC-USI92V274 A>G224613626346136263Single base substitutionMissense_variant
MU1924413UCEC-USR81R243 G>A224609620546096205Single base substitutionSynonymous_variant
MU1924413UCEC-USR145R435 G>A224609620546096205Single base substitutionSynonymous_variant
MU1924407UCEC-USR9I26 G>T224618955846189558Single base substitutionMissense_variant


CGAP
UniGeneCytobandOMIMSNP
Hs.47512522q13.31 611150


IntOGen
CancerMutation AAcDNAChrPositionConsequence
BRCAp.P169Lc.506 C>T2246098586Missense
CMp.L330Lc.990 G>A2246134706Synonymous
CMp.V315Gc.944 T>G2246134660Missense
CMp.P266Ac.796 C>G2246125372Missense
CMp.P259Lc.776 C>T2246125352Missense
CMp.P159Sc.475 C>T2246096245Missense
CMp.L51Mc.151 C>A2246085626Missense
ESCAp.S408Sc.1224 T>C2246202889Synonymous
ESCAp.I173Nc.518 T>A2246098598Missense
HNSCp.L223Lc.669 C>T2246114314Synonymous
HNSCp.S127Cc.380 C>G2246088947Missense
HNSCp.R122Qc.365 G>A2246088932Missense
LUSCp.V123Ac.368 T>C2246088935Missense
MBp.N240Hc.718 A>C2246114363Missense
MBp.N240Hc.718 A>C2246114363Missense
MBp.L223Lc.669 C>T2246114314Synonymous
MMp.L197Lc.591 C>T2246098671Synonymous
OVp.S127Cc.380 C>G2246088947Missense
STADp.P266Rc.797 C>G2246125373Missense
STADp.R89Cc.265 C>T2246085740Missense


BioMuta
PositionRefVarPosition (AA)Ref (AA)Var (AA)Cancer TypeFunctionReferences
229EK493GADOID:1993 / Rectum cancer [Recca]--
229EK685GADOID:1993 / Rectum cancer [Recca]--
312EK742GADOID:1993 / Rectum cancer [Recca]--
312EK934GADOID:1993 / Rectum cancer [Recca]--
240NH526ACDOID:1319 / Brain cancer [Braca]- 22832583
240NH718ACDOID:1319 / Brain cancer [Braca]- 22832583
173IN326TADOID:5041 / Esophageal cancer [EC]- 23525077
173IN518TADOID:5041 / Esophageal cancer [EC]Gain|Phosphorylation 23525077
231VL499GTDOID:4607 / Biliary tract cancer [Biltc]- 24185509
231VL691GTDOID:4607 / Biliary tract cancer [Biltc]Gain|Phosphorylation 24185509
336LP815TCDOID:4159 / Skin cancer [Skica]- 22842228
336LP1007TCDOID:4159 / Skin cancer [Skica]- 22842228
381LM949CADOID:363 / Uterine cancer [Uteca]--
381LM1141CADOID:363 / Uterine cancer [Uteca]--
423RSTOP1075CTDOID:219 / Colon cancer [Colca]- 22895193
423RSTOP1267CTDOID:219 / Colon cancer [Colca]- 22895193
127SC188CGDOID:2394 / Ovarian cancer [OVCA]- 21720365
127SC380CGDOID:2394 / Ovarian cancer [OVCA]- 21720365
315VG752TGDOID:4159 / Skin cancer [Skica]- 22622578
315VG944TGDOID:4159 / Skin cancer [Skica]- 22622578
172KSTOP322ATDOID:363 / Uterine cancer [Uteca]--
172KSTOP514ATDOID:363 / Uterine cancer [Uteca]--
148DV251ATDOID:1612 / Breast cancer [BRCA]- 23563269
148DV443ATDOID:1612 / Breast cancer [BRCA]- 23563269
124EV371ATDOID:3571 / Liver cancer [Livca]- 23788652
188EV563ATDOID:3571 / Liver cancer [Livca]- 23788652
73NH217ACDOID:363 / Uterine cancer [Uteca]--
370FL916TCDOID:1324 / Lung cancer [Lunca]--
370FL1108TCDOID:1324 / Lung cancer [Lunca]--
329LF795GTDOID:1324 / Lung cancer [Lunca]- 23033341
329LF987GTDOID:1324 / Lung cancer [Lunca]- 23033341
308DN730GADOID:219 / Colon cancer [Colca]--
308DN922GADOID:219 / Colon cancer [Colca]--
44RM131GTDOID:363 / Uterine cancer [Uteca]--
127SC188CGDOID:2394 / Ovarian cancer [OVCA]--
127SC380CGDOID:2394 / Ovarian cancer [OVCA]--
122RQ173GADOID:0060119 / Pharynx cancer [Phaca]--
122RQ365GADOID:0060119 / Pharynx cancer [Phaca]--
127SC188CGDOID:0060119 / Pharynx cancer [Phaca]--
127SC380CGDOID:0060119 / Pharynx cancer [Phaca]--
303TK716CADOID:2531 / Hematologic cancer [Hemca]--
303TK908CADOID:2531 / Hematologic cancer [Hemca]--
169PL314CTDOID:1612 / Breast cancer [BRCA]--
169PL506CTDOID:1612 / Breast cancer [BRCA]--
240NH526ACDOID:1319 / Brain cancer [Braca]--
240NH718ACDOID:1319 / Brain cancer [Braca]--
123VA176TCDOID:1324 / Lung cancer [Lunca]--
123VA368TCDOID:1324 / Lung cancer [Lunca]--
303TK716CADOID:2531 / Hematologic cancer [Hemca]- 22158541
303TK908CADOID:2531 / Hematologic cancer [Hemca]- 22158541
169PL314CTDOID:1612 / Breast cancer [BRCA]--
169PL506CTDOID:1612 / Breast cancer [BRCA]--
123VA176TCDOID:1324 / Lung cancer [Lunca]--
123VA368TCDOID:1324 / Lung cancer [Lunca]--
307LP728TCDOID:219 / Colon cancer [Colca]- 22895193
307LP920TCDOID:219 / Colon cancer [Colca]- 22895193
51LM151CADOID:1324 / Lung cancer [Lunca]--
51LM151CADOID:4159 / Skin cancer [Skica]--
58SF173CTDOID:4159 / Skin cancer [Skica]--
89RC265CTDOID:10534 / Stomach cancer [Stoca]--
123VA176TCDOID:1324 / Lung cancer [Lunca]--
123VA368TCDOID:1324 / Lung cancer [Lunca]--
133RC205CTDOID:4159 / Skin cancer [Skica]--
133RC397CTDOID:4159 / Skin cancer [Skica]--
145RW241CTDOID:219 / Colon cancer [Colca]--
145RW433CTDOID:219 / Colon cancer [Colca]--
191KN381ACDOID:1993 / Rectum cancer [Recca]--
191KN573ACDOID:1993 / Rectum cancer [Recca]--
229EK493GADOID:1993 / Rectum cancer [Recca]--
229EK685GADOID:1993 / Rectum cancer [Recca]--
240NH526ACDOID:1319 / Brain cancer [Braca]--
240NH718ACDOID:1319 / Brain cancer [Braca]--
255TM572CTDOID:10534 / Stomach cancer [Stoca]--
255TM764CTDOID:10534 / Stomach cancer [Stoca]--
266PR605CGDOID:10534 / Stomach cancer [Stoca]--
266PR797CGDOID:10534 / Stomach cancer [Stoca]--
303TK716CADOID:2531 / Hematologic cancer [Hemca]--
303TK908CADOID:2531 / Hematologic cancer [Hemca]--
308DN730GADOID:219 / Colon cancer [Colca]--
308DN922GADOID:219 / Colon cancer [Colca]--
308DN730GADOID:10534 / Stomach cancer [Stoca]--
308DN922GADOID:10534 / Stomach cancer [Stoca]--
312EK742GADOID:1993 / Rectum cancer [Recca]--
312EK934GADOID:1993 / Rectum cancer [Recca]--
314TA748AGDOID:1993 / Rectum cancer [Recca]--
314TA940AGDOID:1993 / Rectum cancer [Recca]--
341HY829CTDOID:1612 / Breast cancer [BRCA]--
341HY1021CTDOID:1612 / Breast cancer [BRCA]--
370FL916TCDOID:1324 / Lung cancer [Lunca]--
370FL1108TCDOID:1324 / Lung cancer [Lunca]--
376RC934CTDOID:4159 / Skin cancer [Skica]--
376RC1126CTDOID:4159 / Skin cancer [Skica]--
412PL1043CTDOID:4159 / Skin cancer [Skica]--
412PL1235CTDOID:4159 / Skin cancer [Skica]--
425LF1081CTDOID:4159 / Skin cancer [Skica]--
425LF1273CTDOID:4159 / Skin cancer [Skica]--
376RC934CTDOID:1909 / Melanoma [Melan]--
376RC1126CTDOID:1909 / Melanoma [Melan]--
381LM949CADOID:363 / Uterine cancer [Uteca]--
381LM1141CADOID:363 / Uterine cancer [Uteca]--
44RM131GTDOID:363 / Uterine cancer [Uteca]--
73NH217ACDOID:363 / Uterine cancer [Uteca]--
172KSTOP322ATDOID:363 / Uterine cancer [Uteca]--
172KSTOP514ATDOID:363 / Uterine cancer [Uteca]--
440ED1128GTDOID:219 / Colon cancer [Colca]--
440ED1320GTDOID:219 / Colon cancer [Colca]--
89RC265CTDOID:10534 / Stomach cancer [Stoca]--
308DN730GADOID:10534 / Stomach cancer [Stoca]--
308DN922GADOID:10534 / Stomach cancer [Stoca]--
255TM572CTDOID:10534 / Stomach cancer [Stoca]--
255TM764CTDOID:10534 / Stomach cancer [Stoca]--
51LM151CADOID:1324 / Lung cancer [Lunca]--
266PR605CGDOID:10534 / Stomach cancer [Stoca]--
266PR797CGDOID:10534 / Stomach cancer [Stoca]--
376RC934CTDOID:4159 / Skin cancer [Skica]--
376RC1126CTDOID:4159 / Skin cancer [Skica]--
145RW241CTDOID:219 / Colon cancer [Colca]--
145RW433CTDOID:219 / Colon cancer [Colca]--
425LF1081CTDOID:4159 / Skin cancer [Skica]--
425LF1273CTDOID:4159 / Skin cancer [Skica]--
412PL1043CTDOID:4159 / Skin cancer [Skica]--
412PL1235CTDOID:4159 / Skin cancer [Skica]--
266PA604CGDOID:4159 / Skin cancer [Skica]--
266PA796CGDOID:4159 / Skin cancer [Skica]--
58SF173CTDOID:4159 / Skin cancer [Skica]--
133RC205CTDOID:4159 / Skin cancer [Skica]--
133RC397CTDOID:4159 / Skin cancer [Skica]--
191KN381ACDOID:1993 / Rectum cancer [Recca]--
191KN573ACDOID:1993 / Rectum cancer [Recca]--
229EK493GADOID:1993 / Rectum cancer [Recca]--
229EK685GADOID:1993 / Rectum cancer [Recca]--
314TA748AGDOID:1993 / Rectum cancer [Recca]--
314TA940AGDOID:1993 / Rectum cancer [Recca]--
312EK742GADOID:1993 / Rectum cancer [Recca]--
312EK934GADOID:1993 / Rectum cancer [Recca]--
110VI328GADOID:1793 / Pancreatic cancer [PACA]--
174VI520GADOID:1793 / Pancreatic cancer [PACA]--
423RSTOP1075CTDOID:1793 / Pancreatic cancer [PACA]--
423RSTOP1267CTDOID:1793 / Pancreatic cancer [PACA]--
312ESTOP742GTDOID:1793 / Pancreatic cancer [PACA]--
312ESTOP934GTDOID:1793 / Pancreatic cancer [PACA]--
123VA176TCDOID:1324 / Lung cancer [Lunca]--
123VA368TCDOID:1324 / Lung cancer [Lunca]--
51LM151CADOID:1324 / Lung cancer [Lunca]--
370FL916TCDOID:1324 / Lung cancer [Lunca]--
370FL1108TCDOID:1324 / Lung cancer [Lunca]--
127SC188CGDOID:11934 / Head and neck cancer [H/NC]--
127SC380CGDOID:11934 / Head and neck cancer [H/NC]--
122RQ173GADOID:11934 / Head and neck cancer [H/NC]--
122RQ365GADOID:11934 / Head and neck cancer [H/NC]--
341HY829CTDOID:1612 / Breast cancer [BRCA]--
341HY1021CTDOID:1612 / Breast cancer [BRCA]--
472TA1222AGDOID:11934 / Head and neck cancer [H/NC]--
472TA1414AGDOID:11934 / Head and neck cancer [H/NC]Gain|Phosphorylation-
308DN730GADOID:219 / Colon cancer [Colca]--
308DN922GADOID:219 / Colon cancer [Colca]--
145RW241CTDOID:219 / Colon cancer [Colca]--
145RW433CTDOID:219 / Colon cancer [Colca]--
341HY829CTDOID:1612 / Breast cancer [BRCA]--
341HY1021CTDOID:1612 / Breast cancer [BRCA]--
314TA748AGDOID:1993 / Rectum cancer [Recca]--
314TA940AGDOID:1993 / Rectum cancer [Recca]--
191KN381ACDOID:1993 / Rectum cancer [Recca]--
191KN573ACDOID:1993 / Rectum cancer [Recca]--