ABI1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC102704066427040664+Missense_MutationSNPGGATCGA-OR-A5KV-01A-11D-A29I-10TCGA-OR-A5KV-10A-01D-A29L-10g.chr10:27040664G>Ac.1214C>Tc.(1213-1215)cCc>cTcp.P405L
BLCA102704815527048155+Missense_MutationSNPGGATCGA-FD-A3SN-01A-12D-A22Z-08TCGA-FD-A3SN-10A-01D-A22Z-08g.chr10:27048155G>Ac.914C>Tc.(913-915)tCa>tTap.S305L
BLCA102705286527052865+Missense_MutationSNPGGTTCGA-GV-A3QI-01A-11D-A21Z-08TCGA-GV-A3QI-10A-01D-A21Z-08g.chr10:27052865G>Tc.845C>Ac.(844-846)tCt>tAtp.S282Y
BLCA102711220727112207+Missense_MutationSNPCCTTCGA-DK-A6AW-01A-11D-A30E-08TCGA-DK-A6AW-10A-01D-A30H-08g.chr10:27112207C>Tc.145G>Ac.(145-147)Gag>Aagp.E49K
BLCA102711223127112231+Missense_MutationSNPTTCTCGA-DK-A1A7-01A-11D-A13W-08TCGA-DK-A1A7-10A-01D-A13W-08g.chr10:27112231T>Cc.121A>Gc.(121-123)Aca>Gcap.T41A
BLCA102714969827149698+Missense_MutationSNPTTCTCGA-BT-A2LB-01A-11D-A18F-08TCGA-BT-A2LB-10A-01D-A18F-08g.chr10:27149698T>Cc.95A>Gc.(94-96)tAc>tGcp.Y32C
BRCA102704063827040638+Missense_MutationSNPGGATCGA-BH-A0H9-01A-11W-A071-09TCGA-BH-A0H9-11A-22W-A10F-09g.chr10:27040638G>Ac.1240C>Tc.(1240-1242)Cca>Tcap.P414S
BRCA102704808927048089+Missense_MutationSNPGGATCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr10:27048089G>Ac.980C>Tc.(979-981)tCg>tTgp.S327L
BRCA102705281527052815+Missense_MutationSNPCCATCGA-E2-A14N-01A-31D-A135-09TCGA-E2-A14N-10A-01D-A135-09g.chr10:27052815C>Ac.895G>Tc.(895-897)Gtg>Ttgp.V299L
CESC102705288027052880+Missense_MutationSNPGGCTCGA-IR-A3LH-01A-21D-A20U-09TCGA-IR-A3LH-10A-01D-A20U-09g.chr10:27052880G>Cc.830C>Gc.(829-831)tCt>tGtp.S277C
CESC102711216027112160+SilentSNPTTCTCGA-HM-A3JK-01A-11D-A21Q-09TCGA-HM-A3JK-10A-01D-A21Q-09g.chr10:27112160T>Cc.192A>Gc.(190-192)caA>caGp.Q64Q
COAD102703756527037565+SilentSNPGGATCGA-AA-3837-01A-01W-0900-09TCGA-AA-3837-10A-01W-0900-09g.chr10:27037565G>Ac.1461C>Tc.(1459-1461)gtC>gtTp.V487V
COAD102704054327040543+Missense_MutationSNPCCATCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr10:27040543C>Ac.1335G>Tc.(1333-1335)aaG>aaTp.K445N
COAD102704061327040613+Missense_MutationSNPTTGTCGA-AA-3977-01A-01W-0995-10TCGA-AA-3977-10A-01W-0999-10g.chr10:27040613T>Gc.1265A>Cc.(1264-1266)gAa>gCap.E422A
COAD102711214327112143+Missense_MutationSNPTTCTCGA-AA-A03J-01A-21W-A096-10TCGA-AA-A03J-11A-11W-A096-10g.chr10:27112143T>Cc.209A>Gc.(208-210)aAc>aGcp.N70S
COADREAD102703756527037565+SilentSNPGGATCGA-AA-3837-01A-01W-0900-09TCGA-AA-3837-10A-01W-0900-09g.chr10:27037565G>Ac.1461C>Tc.(1459-1461)gtC>gtTp.V487V
COADREAD102704054327040543+Missense_MutationSNPCCATCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr10:27040543C>Ac.1335G>Tc.(1333-1335)aaG>aaTp.K445N
COADREAD102704061327040613+Missense_MutationSNPTTGTCGA-AA-3977-01A-01W-0995-10TCGA-AA-3977-10A-01W-0999-10g.chr10:27040613T>Gc.1265A>Cc.(1264-1266)gAa>gCap.E422A
COADREAD102704811127048111+Nonsense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr10:27048111G>Ac.958C>Tc.(958-960)Cga>Tgap.R320*
COADREAD102706614127066141+SilentSNPTTCTCGA-AH-6643-01A-11D-1826-10TCGA-AH-6643-11A-01D-1826-10g.chr10:27066141T>Cc.315A>Gc.(313-315)gcA>gcGp.A105A
COADREAD102711214327112143+Missense_MutationSNPTTCTCGA-AA-A03J-01A-21W-A096-10TCGA-AA-A03J-11A-11W-A096-10g.chr10:27112143T>Cc.209A>Gc.(208-210)aAc>aGcp.N70S
ESCA102706607227066072+SilentSNPCCTTCGA-LN-A49S-01A-11D-A247-09TCGA-LN-A49S-10A-01D-A247-09g.chr10:27066072C>Tc.384G>Ac.(382-384)gcG>gcAp.A128A
HNSC102703763927037639+Missense_MutationSNPCCTTCGA-CV-A6K2-01A-11D-A31L-08TCGA-CV-A6K2-10A-01D-A31J-08g.chr10:27037639C>Tc.1387G>Ac.(1387-1389)Gat>Aatp.D463N
HNSC102704814327048143+Missense_MutationSNPGGATCGA-CR-6484-01A-11D-1870-08TCGA-CR-6484-10A-01D-1870-08g.chr10:27048143G>Ac.926C>Tc.(925-927)tCc>tTcp.S309F
HNSC102704815527048155+Missense_MutationSNPGGATCGA-CR-6472-01A-11D-1870-08TCGA-CR-6472-10A-01D-1870-08g.chr10:27048155G>Ac.914C>Tc.(913-915)tCa>tTap.S305L
KIPAN102705416527054165+Missense_MutationSNPGGTTCGA-CJ-4903-01A-01D-1429-08TCGA-CJ-4903-11A-01D-1429-08g.chr10:27054165G>Tc.802C>Ac.(802-804)Cca>Acap.P268T
KIRC102705416527054165+Missense_MutationSNPGGTTCGA-CJ-4903-01A-01D-1429-08TCGA-CJ-4903-11A-01D-1429-08g.chr10:27054165G>Tc.802C>Ac.(802-804)Cca>Acap.P268T
LIHC102704464727044647+Missense_MutationSNPGGTTCGA-ES-A2HS-01A-11D-A183-10TCGA-ES-A2HS-11A-11D-A183-10g.chr10:27044647G>Tc.1102C>Ac.(1102-1104)Cct>Actp.P368T
LUAD102704062327040624+In_Frame_InsINS--TGGTCGA-86-A4JF-01A-11D-A24P-08TCGA-86-A4JF-10A-01D-A24P-08g.chr10:27040623_27040624insTGGc.1254_1255insCCAc.(1252-1257)ccagtg>ccaCCAgtgp.418_419insP
LUAD102704801027048010+SilentSNPTTATCGA-38-4626-01A-01D-1553-08TCGA-38-4626-11A-01D-1553-08g.chr10:27048010T>Ac.1059A>Tc.(1057-1059)ccA>ccTp.P353P
LUAD102706000327060003+Splice_SiteSNPCCATCGA-49-6761-01A-31D-1945-08TCGA-49-6761-11A-01D-1945-08g.chr10:27060003C>Ac.e4+1
LUAD102711223527112235+Splice_SiteSNPCCTTCGA-50-6590-01A-12D-1855-08TCGA-50-6590-11A-01D-1855-08g.chr10:27112235C>Tc.e2-1
LUSC102704069127040691+Missense_MutationSNPGGATCGA-22-5477-01A-01D-1632-08TCGA-22-5477-11A-11D-1632-08g.chr10:27040691G>Ac.1187C>Tc.(1186-1188)cCg>cTgp.P396L
LUSC102705927427059275+Splice_SiteDNPGCGCAATCGA-51-4080-01A-01D-1458-08TCGA-51-4080-11A-01D-1458-08g.chr10:27059274_27059275GC>AAc.478_478GC>TTc.(478-480)GCca>TTccap.A160F
LUSC102711209827112098+Missense_MutationSNPCCTTCGA-21-5782-01A-01D-1632-08TCGA-21-5782-10A-01D-1632-08g.chr10:27112098C>Tc.254G>Ac.(253-255)aGa>aAap.R85K
OV102704465327044653+Missense_MutationSNPGGATCGA-09-1673-01A-01W-0633-09TCGA-09-1673-10A-01W-0633-09g.chr10:27044653G>Ac.1096C>Tc.(1096-1098)Cct>Tctp.P366S
PAAD102714978627149786+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr10:27149786C>Tc.7G>Ac.(7-9)Gag>Aagp.E3K
PRAD102704805027048050+Missense_MutationSNPGGATCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr10:27048050G>Ac.1019C>Tc.(1018-1020)aCt>aTtp.T340I
READ102704811127048111+Nonsense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr10:27048111G>Ac.958C>Tc.(958-960)Cga>Tgap.R320*
READ102706614127066141+SilentSNPTTCTCGA-AH-6643-01A-11D-1826-10TCGA-AH-6643-11A-01D-1826-10g.chr10:27066141T>Cc.315A>Gc.(313-315)gcA>gcGp.A105A
SKCM102705286327052863+Missense_MutationSNPCCTTCGA-EE-A2ML-06A-11D-A197-08TCGA-EE-A2ML-10A-01D-A199-08g.chr10:27052863C>Tc.847G>Ac.(847-849)Gga>Agap.G283R
SKCM102705288027052880+Missense_MutationSNPGGATCGA-FS-A1Z0-06A-11D-A197-08TCGA-FS-A1Z0-10A-01D-A199-08g.chr10:27052880G>Ac.830C>Tc.(829-831)tCt>tTtp.S277F
SKCM102705920527059205+Missense_MutationSNPTTCTCGA-D9-A6EC-06A-11D-A30X-08TCGA-D9-A6EC-10A-01D-A30X-08g.chr10:27059205T>Cc.547A>Gc.(547-549)Agt>Ggtp.S183G
SKCM102705922227059222+Missense_MutationSNPGGATCGA-GF-A6C8-06A-12D-A30X-08TCGA-GF-A6C8-10A-01D-A30X-08g.chr10:27059222G>Ac.530C>Tc.(529-531)cCt>cTtp.P177L
SKCM102706603727066037+Missense_MutationSNPGGATCGA-EE-A29H-06A-12D-A197-08TCGA-EE-A29H-10A-01D-A199-08g.chr10:27066037G>Ac.419C>Tc.(418-420)cCt>cTtp.P140L
SKCM102714968427149684+Missense_MutationSNPAAGTCGA-EE-A2MU-06A-21D-A196-08TCGA-EE-A2MU-10A-01D-A198-08g.chr10:27149684A>Gc.109T>Cc.(109-111)Tac>Cacp.Y37H
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN102714985327149853single base substitutionGA5_prime_UTR_premature_start_codon_gain_variant
BLCA-CN102714985327149853single base substitutionGAupstream_gene_variant
BLCA-US102704815527048155single base substitutionGAintron_variant
BLCA-US102704815527048155single base substitutionGAmissense_variantS272L815C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS273L818C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS277L830C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS278L833C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS279L836C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS305L914C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS306L917C>T
BLCA-US102704815527048155single base substitutionGAmissense_variantS322L965C>T
BLCA-US102705286527052865single base substitutionGTintron_variant
BLCA-US102705286527052865single base substitutionGTmissense_variantS282Y845C>A
BLCA-US102705286527052865single base substitutionGTmissense_variantS283Y848C>A
BLCA-US102705286527052865single base substitutionGTmissense_variantS299Y896C>A
BLCA-US102711223127112231single base substitutionTCmissense_variantT41A121A>G
BLCA-US102711223127112231single base substitutionTCmissense_variantT58A172A>G
BLCA-US102711223127112231single base substitutionTCupstream_gene_variant
BLCA-US102714969827149698single base substitutionTCmissense_variantY32C95A>G
BRCA-EU102703104927031049single base substitutionGAdownstream_gene_variant
BRCA-EU102703151627031516insertion of <=200bp-Tdownstream_gene_variant
BRCA-EU102703453927034539single base substitutionGAdownstream_gene_variant
BRCA-EU102703464627034646single base substitutionCTdownstream_gene_variant
BRCA-EU102703491827034918insertion of <=200bp-Tdownstream_gene_variant
BRCA-EU102703504527035045single base substitutionCTdownstream_gene_variant
BRCA-EU102703632027036320single base substitutionTA3_prime_UTR_variant
BRCA-EU102703632027036320single base substitutionTAdownstream_gene_variant
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM286
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM351
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM380
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM403
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM408
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM409
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM432
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM433
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM437
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM438
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM439
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM453
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM465
BRCA-EU102703762227037633deletion of <=200bpCATAAATGACAG-inframe_deletionLSFM466
BRCA-EU102703900527039005single base substitutionATintron_variant
BRCA-EU102703997927039979single base substitutionGAintron_variant
BRCA-EU102704013727040137single base substitutionCTintron_variant
BRCA-EU102704153527041535single base substitutionATintron_variant
BRCA-EU102704183127041831single base substitutionCAintron_variant
BRCA-EU102704376827043768single base substitutionGCintron_variant
BRCA-EU102704391427043914single base substitutionGCintron_variant
BRCA-EU102704400027044000single base substitutionGCintron_variant
BRCA-EU102704406227044062single base substitutionCGintron_variant
BRCA-EU102704421727044217single base substitutionGCintron_variant
BRCA-EU102704443627044436single base substitutionCGintron_variant
BRCA-EU102704512327045123single base substitutionCAintron_variant
BRCA-EU102704534727045350deletion of <=200bpTCAG-intron_variant
BRCA-EU102704570827045708single base substitutionTCintron_variant
BRCA-EU102704636927046369single base substitutionAGintron_variant
BRCA-EU102704659127046591deletion of <=200bpA-intron_variant
BRCA-EU102704678927046789single base substitutionGCintron_variant
BRCA-EU102704699127046991single base substitutionCGintron_variant
BRCA-EU102704768427047684deletion of <=200bpT-intron_variant
BRCA-EU102704835627048356deletion of <=200bpA-intron_variant
BRCA-EU102704901327049013single base substitutionATintron_variant
BRCA-EU102704967727049677single base substitutionGCintron_variant
BRCA-EU102705156027051560single base substitutionGAintron_variant
BRCA-EU102705220727052207single base substitutionTCintron_variant
BRCA-EU102705281227052812single base substitutionTGintron_variant
BRCA-EU102705281227052812single base substitutionTGmissense_variantI300L898A>C
BRCA-EU102705281227052812single base substitutionTGmissense_variantI301L901A>C
BRCA-EU102705281227052812single base substitutionTGmissense_variantI317L949A>C
BRCA-EU102705403427054034single base substitutionCGintron_variant
BRCA-EU102705429727054297deletion of <=200bpA-intron_variant
BRCA-EU102705493527054935single base substitutionGCintron_variant
BRCA-EU102705509827055098single base substitutionGAintron_variant
BRCA-EU102705535927055359single base substitutionTAintron_variant
BRCA-EU102705552427055524single base substitutionGAintron_variant
BRCA-EU102705564127055641single base substitutionCTintron_variant
BRCA-EU102705630027056300single base substitutionGAintron_variant
BRCA-EU102705804327058043single base substitutionACintron_variant
BRCA-EU102705846327058463single base substitutionATintron_variant
BRCA-EU102705847027058473deletion of <=200bpTGAT-intron_variant
BRCA-EU102706013327060133single base substitutionCGintron_variant
BRCA-EU102706109527061095single base substitutionGCdownstream_gene_variant
BRCA-EU102706109527061095single base substitutionGCintron_variant
BRCA-EU102706144127061441single base substitutionTAdownstream_gene_variant
BRCA-EU102706144127061441single base substitutionTAintron_variant
BRCA-EU102706206327062063single base substitutionGCdownstream_gene_variant
BRCA-EU102706206327062063single base substitutionGCintron_variant
BRCA-EU102706257427062574single base substitutionGCdownstream_gene_variant
BRCA-EU102706257427062574single base substitutionGCintron_variant
BRCA-EU102706441427064414single base substitutionATdownstream_gene_variant
BRCA-EU102706441427064414single base substitutionATintron_variant
BRCA-EU102706670327066703deletion of <=200bpA-intron_variant
BRCA-EU102706716127067161single base substitutionTGintron_variant
BRCA-EU102706718627067186single base substitutionGCintron_variant
BRCA-EU102706830727068307single base substitutionTCintron_variant
BRCA-EU102706857627068576single base substitutionATintron_variant
BRCA-EU102706883127068831single base substitutionCTintron_variant
BRCA-EU102706910427069104single base substitutionATintron_variant
BRCA-EU102706926427069264single base substitutionCAintron_variant
BRCA-EU102706974527069745single base substitutionGCintron_variant
BRCA-EU102707067927070679single base substitutionAGintron_variant
BRCA-EU102707068927070689single base substitutionCTintron_variant
BRCA-EU102707297927072979single base substitutionCGintron_variant
BRCA-EU102707378227073782single base substitutionCTintron_variant
BRCA-EU102707463027074630single base substitutionGAintron_variant
BRCA-EU102707463227074632single base substitutionCTintron_variant
BRCA-EU102707539727075397single base substitutionCTintron_variant
BRCA-EU102707544627075446single base substitutionGAintron_variant
BRCA-EU102707577427075774single base substitutionTCintron_variant
BRCA-EU102707577727075777single base substitutionCGintron_variant
BRCA-EU102707792927077929single base substitutionAGintron_variant
BRCA-EU102707933327079333single base substitutionACintron_variant
BRCA-EU102707959027079590insertion of <=200bp-TAintron_variant
BRCA-EU102708062527080625deletion of <=200bpA-intron_variant
BRCA-EU102708072227080722insertion of <=200bp-Aintron_variant
BRCA-EU102708100627081006single base substitutionGAintron_variant
BRCA-EU102708303627083036single base substitutionGAintron_variant
BRCA-EU102708326527083265single base substitutionGCintron_variant
BRCA-EU102708415427084154single base substitutionATintron_variant
BRCA-EU102708416927084169single base substitutionGTintron_variant
BRCA-EU102708538627085386single base substitutionGAintron_variant
BRCA-EU102708557827085578single base substitutionGCintron_variant
BRCA-EU102708634727086347single base substitutionTCintron_variant
BRCA-EU102708695227086952single base substitutionACintron_variant
BRCA-EU102708723827087238deletion of <=200bpG-intron_variant
BRCA-EU102708773727087737single base substitutionCGintron_variant
BRCA-EU102708856027088560single base substitutionGCintron_variant
BRCA-EU102708937127089371single base substitutionCTintron_variant
BRCA-EU102708943127089431single base substitutionGAintron_variant
BRCA-EU102709112027091120single base substitutionAGintron_variant
BRCA-EU102709282227092822single base substitutionTAintron_variant
BRCA-EU102709310027093100single base substitutionTCintron_variant
BRCA-EU102709331227093312single base substitutionATintron_variant
BRCA-EU102709435227094352single base substitutionACintron_variant
BRCA-EU102709447227094472single base substitutionGCintron_variant
BRCA-EU102709605427096054single base substitutionCTintron_variant
BRCA-EU102709701727097017insertion of <=200bp-Aintron_variant
BRCA-EU102709753427097534single base substitutionCGintron_variant
BRCA-EU102709921027099210single base substitutionGTintron_variant
BRCA-EU102709933827099338deletion of <=200bpA-intron_variant
BRCA-EU102709943427099434single base substitutionGCintron_variant
BRCA-EU102709954727099547single base substitutionGTintron_variant
BRCA-EU102709997427099974single base substitutionGCintron_variant
BRCA-EU102710049927100499single base substitutionGAintron_variant
BRCA-EU102710121527101215single base substitutionCGintron_variant
BRCA-EU102710365527103655single base substitutionGTintron_variant
BRCA-EU102710440927104409single base substitutionACintron_variant
BRCA-EU102710441927104419single base substitutionATintron_variant
BRCA-EU102710444727104447insertion of <=200bp-AAACintron_variant
BRCA-EU102710505727105057single base substitutionGAintron_variant
BRCA-EU102710519427105194single base substitutionGTintron_variant
BRCA-EU102710519527105195single base substitutionATintron_variant
BRCA-EU102710814027108140insertion of <=200bp-Cintron_variant
BRCA-EU102710817127108171single base substitutionCGintron_variant
BRCA-EU102710862027108620single base substitutionTCintron_variant
BRCA-EU102710871727108717deletion of <=200bpG-intron_variant
BRCA-EU102710887927108879deletion of <=200bpC-intron_variant
BRCA-EU102710895927108959single base substitutionGTintron_variant
BRCA-EU102710897327108973single base substitutionGCintron_variant
BRCA-EU102711015727110157single base substitutionGCintron_variant
BRCA-EU102711203127112031single base substitutionTCintron_variant
BRCA-EU102711423327114233single base substitutionTCintron_variant
BRCA-EU102711423327114233single base substitutionTCupstream_gene_variant
BRCA-EU102711428627114286single base substitutionCGintron_variant
BRCA-EU102711428627114286single base substitutionCGupstream_gene_variant
BRCA-EU102711603427116034single base substitutionGCintron_variant
BRCA-EU102711603427116034single base substitutionGCupstream_gene_variant
BRCA-EU102711613427116134single base substitutionGAintron_variant
BRCA-EU102711613427116134single base substitutionGAupstream_gene_variant
BRCA-EU102711689027116890single base substitutionCTintron_variant
BRCA-EU102711689027116890single base substitutionCTupstream_gene_variant
BRCA-EU102711793127117931single base substitutionGAintron_variant
BRCA-EU102711798027117980single base substitutionCTintron_variant
BRCA-EU102711835327118353single base substitutionTAintron_variant
BRCA-EU102711854027118540single base substitutionCTintron_variant
BRCA-EU102712047727120477deletion of <=200bpA-intron_variant
BRCA-EU102712169127121691single base substitutionGAintron_variant
BRCA-EU102712177227121772single base substitutionTAintron_variant
BRCA-EU102712195027121950single base substitutionACintron_variant
BRCA-EU102712253927122539single base substitutionATintron_variant
BRCA-EU102712260827122608single base substitutionGAintron_variant
BRCA-EU102712303927123039single base substitutionATintron_variant
BRCA-EU102712388527123885single base substitutionATintron_variant
BRCA-EU102712484727124847deletion of <=200bpT-intron_variant
BRCA-EU102712525227125252single base substitutionGAintron_variant
BRCA-EU102712554227125542single base substitutionCTintron_variant
BRCA-EU102712626327126263single base substitutionAGintron_variant
BRCA-EU102712641327126413deletion of <=200bpG-intron_variant
BRCA-EU102712795827127958single base substitutionGCintron_variant
BRCA-EU102712844327128443deletion of <=200bpA-intron_variant
BRCA-EU102713029727130297single base substitutionACintron_variant
BRCA-EU102713084927130849single base substitutionGAintron_variant
BRCA-EU102713153427131534single base substitutionGAintron_variant
BRCA-EU102713232727132327single base substitutionGAintron_variant
BRCA-EU102713411327134113single base substitutionTCintron_variant
BRCA-EU102713510427135104single base substitutionCTintron_variant
BRCA-EU102713537827135378single base substitutionTGintron_variant
BRCA-EU102713561127135611insertion of <=200bp-Aintron_variant
BRCA-EU102713608227136082single base substitutionCTintron_variant
BRCA-EU102713655427136554deletion of <=200bpA-intron_variant
BRCA-EU102713665727136657single base substitutionGTintron_variant
BRCA-EU102713806127138061single base substitutionGAintron_variant
BRCA-EU102713823927138239single base substitutionCAintron_variant
BRCA-EU102713872227138722single base substitutionCGintron_variant
BRCA-EU102713874627138746deletion of <=200bpT-intron_variant
BRCA-EU102713943327139433insertion of <=200bp-Aintron_variant
BRCA-EU102713962327139623single base substitutionCAintron_variant
BRCA-EU102714045527140455single base substitutionGAintron_variant
BRCA-EU102714083827140838single base substitutionGCintron_variant
BRCA-EU102714113727141137single base substitutionGAintron_variant
BRCA-EU102714238627142386insertion of <=200bp-Aintron_variant
BRCA-EU102714401427144014single base substitutionAGintron_variant
BRCA-EU102714414727144147single base substitutionAGintron_variant
BRCA-EU102714433127144339deletion of <=200bpAGCCTATGG-intron_variant
BRCA-EU102714481927144819single base substitutionGCintron_variant
BRCA-EU102714515127145151single base substitutionGAintron_variant
BRCA-EU102714636227146362single base substitutionGAintron_variant
BRCA-EU102714640427146404single base substitutionTCintron_variant
BRCA-EU102714718327147183single base substitutionCTintron_variant
BRCA-EU102714817427148174insertion of <=200bp-Aintron_variant
BRCA-EU102714867627148676single base substitutionGAintron_variant
BRCA-EU102715006427150064single base substitutionTCupstream_gene_variant
BRCA-EU102715022227150222single base substitutionACupstream_gene_variant
BRCA-EU102715092527150925single base substitutionGTupstream_gene_variant
BRCA-EU102715268127152681single base substitutionCTupstream_gene_variant
BRCA-EU102715324727153247single base substitutionCAupstream_gene_variant
BRCA-EU102715343827153438single base substitutionGAupstream_gene_variant
BRCA-EU102715383527153835single base substitutionGCupstream_gene_variant
BRCA-EU102715460927154609single base substitutionGAupstream_gene_variant
BRCA-EU102715469127154691single base substitutionCTupstream_gene_variant
BRCA-EU102715484927154849single base substitutionGAupstream_gene_variant
BRCA-FR102703574027035740single base substitutionAG3_prime_UTR_variant
BRCA-FR102703574027035740single base substitutionAGdownstream_gene_variant
BRCA-FR102704153527041535single base substitutionATintron_variant
BRCA-FR102704570827045708single base substitutionTCintron_variant
BRCA-FR102705552427055524single base substitutionGAintron_variant
BRCA-FR102707544627075446single base substitutionGAintron_variant
BRCA-FR102707577727075777single base substitutionCGintron_variant
BRCA-FR102707994127079941single base substitutionAGintron_variant
BRCA-FR102708091327080913single base substitutionGAintron_variant
BRCA-FR102708100627081006single base substitutionGAintron_variant
BRCA-FR102708303627083036single base substitutionGAintron_variant
BRCA-FR102708326527083265single base substitutionGCintron_variant
BRCA-FR102708416927084169single base substitutionGTintron_variant
BRCA-FR102708937127089371single base substitutionCTintron_variant
BRCA-FR102709753427097534single base substitutionCGintron_variant
BRCA-FR102710519427105194single base substitutionGTintron_variant
BRCA-FR102711423327114233single base substitutionTCintron_variant
BRCA-FR102711423327114233single base substitutionTCupstream_gene_variant
BRCA-FR102711458427114584single base substitutionCGintron_variant
BRCA-FR102711458427114584single base substitutionCGupstream_gene_variant
BRCA-FR102713029727130297single base substitutionACintron_variant
BRCA-FR102713232727132327single base substitutionGAintron_variant
BRCA-FR102713823927138239single base substitutionCAintron_variant
BRCA-FR102714814727148147single base substitutionCTintron_variant
BRCA-FR102715298727152987single base substitutionTGupstream_gene_variant
BRCA-FR102715383527153835single base substitutionGCupstream_gene_variant
BRCA-KR102704801527048015single base substitutionCTintron_variant
BRCA-KR102704801527048015single base substitutionCTmissense_variantG319S955G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG320S958G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG324S970G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG325S973G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG326S976G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG352S1054G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG353S1057G>A
BRCA-KR102704801527048015single base substitutionCTmissense_variantG369S1105G>A
BRCA-UK102704438027044380single base substitutionGAintron_variant
BRCA-UK102705220727052207single base substitutionTCintron_variant
BRCA-UK102708930727089307single base substitutionGAintron_variant
BRCA-UK102709447227094472single base substitutionGCintron_variant
BRCA-UK102709622427096224single base substitutionGAintron_variant
BRCA-UK102714481927144819single base substitutionGCintron_variant
BRCA-US102704063827040638single base substitutionGAmissense_variantP235S703C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP300S898C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP329S985C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP352S1054C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP357S1069C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP358S1072C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP381S1141C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP382S1144C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP386S1156C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP387S1159C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP388S1162C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP402S1204C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP414S1240C>T
BRCA-US102704063827040638single base substitutionGAmissense_variantP415S1243C>T
BRCA-US102704808927048089single base substitutionGAintron_variant
BRCA-US102704808927048089single base substitutionGAmissense_variantS294L881C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS295L884C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS299L896C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS300L899C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS301L902C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS327L980C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS328L983C>T
BRCA-US102704808927048089single base substitutionGAmissense_variantS344L1031C>T
BRCA-US102705281527052815single base substitutionCAintron_variant
BRCA-US102705281527052815single base substitutionCAmissense_variantV299L895G>T
BRCA-US102705281527052815single base substitutionCAmissense_variantV300L898G>T
BRCA-US102705281527052815single base substitutionCAmissense_variantV316L946G>T
BTCA-JP102704811127048111single base substitutionGAintron_variant
BTCA-JP102704811127048111single base substitutionGAstop_gainedR287*859C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR288*862C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR292*874C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR293*877C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR294*880C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR320*958C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR321*961C>T
BTCA-JP102704811127048111single base substitutionGAstop_gainedR337*1009C>T
BTCA-JP102705426327054263single base substitutionACintron_variant
BTCA-JP102712859527128595single base substitutionATintron_variant
BTCA-JP102714990327149903single base substitutionCG5_prime_UTR_variant
BTCA-JP102714990327149903single base substitutionCGupstream_gene_variant
CESC-US102705288027052880single base substitutionGCintron_variant
CESC-US102705288027052880single base substitutionGCmissense_variantS277C830C>G
CESC-US102705288027052880single base substitutionGCmissense_variantS278C833C>G
CESC-US102705288027052880single base substitutionGCmissense_variantS294C881C>G
CESC-US102711216027112160single base substitutionTCexon_variant
CESC-US102711216027112160single base substitutionTCsynonymous_variantQ64Q192A>G
CESC-US102711216027112160single base substitutionTCsynonymous_variantQ81Q243A>G
CLLE-ES102705903327059033single base substitutionTCintron_variant
CLLE-ES102706195627061956single base substitutionTAdownstream_gene_variant
CLLE-ES102706195627061956single base substitutionTAintron_variant
CLLE-ES102706200227062002single base substitutionTCdownstream_gene_variant
CLLE-ES102706200227062002single base substitutionTCintron_variant
CLLE-ES102707405027074050single base substitutionTCintron_variant
CLLE-ES102709376527093765single base substitutionATintron_variant
CLLE-ES102712078527120785single base substitutionGAintron_variant
CLLE-ES102714673227146732single base substitutionCTintron_variant
COAD-US102704054327040543single base substitutionCAmissense_variantK266N798G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK331N993G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK360N1080G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK383N1149G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK388N1164G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK389N1167G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK412N1236G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK413N1239G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK417N1251G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK418N1254G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK419N1257G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK433N1299G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK445N1335G>T
COAD-US102704054327040543single base substitutionCAmissense_variantK446N1338G>T
COAD-US102704816027048160single base substitutionCTintron_variant
COAD-US102704816027048160single base substitutionCTsynonymous_variantP270P810G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP271P813G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP275P825G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP276P828G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP277P831G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP303P909G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP304P912G>A
COAD-US102704816027048160single base substitutionCTsynonymous_variantP320P960G>A
COCA-CN102703531027035310single base substitutionGAdownstream_gene_variant
COCA-CN102704471727044717single base substitutionAGintron_variant
COCA-CN102705606527056065single base substitutionTCintron_variant
COCA-CN102705793127057931single base substitutionCTintron_variant
COCA-CN102705913727059137single base substitutionAGintron_variant
COCA-CN102705991227059912single base substitutionACintron_variant
COCA-CN102706349727063497single base substitutionCTdownstream_gene_variant
COCA-CN102706349727063497single base substitutionCTintron_variant
COCA-CN102706600627066006single base substitutionGAexon_variant
COCA-CN102706600627066006single base substitutionGAintron_variant
COCA-CN102706600627066006single base substitutionGAsynonymous_variantG150G450C>T
COCA-CN102706600627066006single base substitutionGAsynonymous_variantG167G501C>T
COCA-CN102706613927066139single base substitutionCTexon_variant
COCA-CN102706613927066139single base substitutionCTintron_variant
COCA-CN102706613927066139single base substitutionCTmissense_variantR106Q317G>A
COCA-CN102706613927066139single base substitutionCTmissense_variantR123Q368G>A
COCA-CN102707516227075162single base substitutionTCintron_variant
COCA-CN102709819827098198single base substitutionACintron_variant
COCA-CN102710070227100702single base substitutionGAintron_variant
COCA-CN102712054827120548single base substitutionGCintron_variant
COCA-CN102712403027124030single base substitutionACintron_variant
COCA-CN102712673227126732single base substitutionCTintron_variant
COCA-CN102712874027128740single base substitutionCAintron_variant
COCA-CN102714748227147482single base substitutionACintron_variant
EOPC-DE102707237927072379single base substitutionAGintron_variant
EOPC-DE102707240027072400single base substitutionATintron_variant
EOPC-DE102709653827096538single base substitutionCTintron_variant
EOPC-DE102710232227102322single base substitutionCAintron_variant
ESAD-UK102703178827031788single base substitutionGTdownstream_gene_variant
ESAD-UK102703410327034103single base substitutionTAdownstream_gene_variant
ESAD-UK102703491827034918insertion of <=200bp-Tdownstream_gene_variant
ESAD-UK102703669927036699single base substitutionAT3_prime_UTR_variant
ESAD-UK102703669927036699single base substitutionATdownstream_gene_variant
ESAD-UK102703760327037603single base substitutionCGmissense_variantV296L886G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV361L1081G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV390L1168G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV413L1237G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV418L1252G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV419L1255G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV442L1324G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV443L1327G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV447L1339G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV448L1342G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV449L1345G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV463L1387G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV475L1423G>C
ESAD-UK102703760327037603single base substitutionCGmissense_variantV476L1426G>C
ESAD-UK102703760427037604single base substitutionATstop_gainedY295*885T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY360*1080T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY389*1167T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY412*1236T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY417*1251T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY418*1254T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY441*1323T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY442*1326T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY446*1338T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY447*1341T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY448*1344T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY462*1386T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY474*1422T>A
ESAD-UK102703760427037604single base substitutionATstop_gainedY475*1425T>A
ESAD-UK102703816627038166single base substitutionTAintron_variant
ESAD-UK102703853427038534single base substitutionAGintron_variant
ESAD-UK102703854327038543single base substitutionGCintron_variant
ESAD-UK102704463127044631single base substitutionGAintron_variant
ESAD-UK102704463127044631single base substitutionGAmissense_variantT288I863C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT340I1019C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT341I1022C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT345I1034C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT346I1037C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT347I1040C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT373I1118C>T
ESAD-UK102704463127044631single base substitutionGAmissense_variantT374I1121C>T
ESAD-UK102704771927047719single base substitutionGAintron_variant
ESAD-UK102705170727051707single base substitutionGAintron_variant
ESAD-UK102705429727054297single base substitutionATintron_variant
ESAD-UK102705432227054322single base substitutionCAintron_variant
ESAD-UK102705575227055752single base substitutionCAintron_variant
ESAD-UK102705806927058069single base substitutionCAintron_variant
ESAD-UK102705837127058371single base substitutionACintron_variant
ESAD-UK102705956427059564single base substitutionCTintron_variant
ESAD-UK102706003827060038deletion of <=200bpG-intron_variant
ESAD-UK102706012727060127deletion of <=200bpT-intron_variant
ESAD-UK102706373927063739single base substitutionTGdownstream_gene_variant
ESAD-UK102706373927063739single base substitutionTGintron_variant
ESAD-UK102706470327064703insertion of <=200bp-Tdownstream_gene_variant
ESAD-UK102706470327064703insertion of <=200bp-Tintron_variant
ESAD-UK102707061127070611single base substitutionAGintron_variant
ESAD-UK102707157127071571single base substitutionGCintron_variant
ESAD-UK102707239427072394single base substitutionTAintron_variant
ESAD-UK102707240327072403single base substitutionTAintron_variant
ESAD-UK102707697827076978single base substitutionCTintron_variant
ESAD-UK102708000927080009single base substitutionACintron_variant
ESAD-UK102708027727080277deletion of <=200bpA-intron_variant
ESAD-UK102708122427081224single base substitutionCTintron_variant
ESAD-UK102708253727082537single base substitutionTCintron_variant
ESAD-UK102708312727083127single base substitutionGAintron_variant
ESAD-UK102708346527083465single base substitutionGAintron_variant
ESAD-UK102708406627084066single base substitutionGCintron_variant
ESAD-UK102708723827087238insertion of <=200bp-Gintron_variant
ESAD-UK102708865627088656single base substitutionACintron_variant
ESAD-UK102708921527089215single base substitutionGAintron_variant
ESAD-UK102709007527090075single base substitutionCTintron_variant
ESAD-UK102709246627092466single base substitutionTAintron_variant
ESAD-UK102709648427096484single base substitutionGAintron_variant
ESAD-UK102709992927099929single base substitutionACintron_variant
ESAD-UK102710413027104130deletion of <=200bpC-intron_variant
ESAD-UK102710442627104426single base substitutionGAintron_variant
ESAD-UK102710446627104466single base substitutionGAintron_variant
ESAD-UK102710490127104901single base substitutionCAintron_variant
ESAD-UK102710495327104953single base substitutionTCintron_variant
ESAD-UK102710633027106330deletion of <=200bpA-intron_variant
ESAD-UK102710814027108140deletion of <=200bpC-intron_variant
ESAD-UK102711111227111112single base substitutionCAintron_variant
ESAD-UK102711255727112557single base substitutionGAintron_variant
ESAD-UK102711255727112557single base substitutionGAupstream_gene_variant
ESAD-UK102711546227115462single base substitutionCAintron_variant
ESAD-UK102711546227115462single base substitutionCAupstream_gene_variant
ESAD-UK102711616427116164deletion of <=200bpA-intron_variant
ESAD-UK102711616427116164deletion of <=200bpA-upstream_gene_variant
ESAD-UK102711644827116448single base substitutionAGintron_variant
ESAD-UK102711644827116448single base substitutionAGupstream_gene_variant
ESAD-UK102711983027119830deletion of <=200bpT-intron_variant
ESAD-UK102712083427120834single base substitutionCTintron_variant
ESAD-UK102712173927121739single base substitutionGAintron_variant
ESAD-UK102712281727122817deletion of <=200bpA-intron_variant
ESAD-UK102712485827124858single base substitutionTCintron_variant
ESAD-UK102712533427125334single base substitutionGAintron_variant
ESAD-UK102712685527126855single base substitutionGAintron_variant
ESAD-UK102712738627127386single base substitutionATintron_variant
ESAD-UK102712782927127829single base substitutionCTintron_variant
ESAD-UK102712844227128442single base substitutionGAintron_variant
ESAD-UK102713059327130593single base substitutionTAintron_variant
ESAD-UK102713067827130678single base substitutionGTintron_variant
ESAD-UK102713202027132020single base substitutionGAintron_variant
ESAD-UK102713291427132914single base substitutionTCintron_variant
ESAD-UK102713444727134447single base substitutionCAintron_variant
ESAD-UK102713604927136049single base substitutionAGintron_variant
ESAD-UK102713655427136554insertion of <=200bp-Aintron_variant
ESAD-UK102714224027142240single base substitutionTAintron_variant
ESAD-UK102714224127142241single base substitutionTAintron_variant
ESAD-UK102714561527145615single base substitutionCTintron_variant
ESAD-UK102714847427148474single base substitutionCTintron_variant
ESAD-UK102715069027150690single base substitutionTCupstream_gene_variant
ESAD-UK102715098127150981single base substitutionCTupstream_gene_variant
ESAD-UK102715379227153793deletion of <=200bpAA-upstream_gene_variant
ESAD-UK102715398427153984single base substitutionTCupstream_gene_variant
ESAD-UK102715501127155011single base substitutionACupstream_gene_variant
GACA-CN102703754627037546single base substitutionGTmissense_variantL315M943C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL380M1138C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL409M1225C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL432M1294C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL437M1309C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL438M1312C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL461M1381C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL462M1384C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL466M1396C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL467M1399C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL468M1402C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL482M1444C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL494M1480C>A
GACA-CN102703754627037546single base substitutionGTmissense_variantL495M1483C>A
KIRC-US102705416527054165single base substitutionGTmissense_variantP204T610C>A
KIRC-US102705416527054165single base substitutionGTmissense_variantP263T787C>A
KIRC-US102705416527054165single base substitutionGTmissense_variantP268T802C>A
KIRC-US102705416527054165single base substitutionGTmissense_variantP269T805C>A
KIRC-US102705416527054165single base substitutionGTmissense_variantP285T853C>A
LAML-KR102705775527057755single base substitutionTCintron_variant
LAML-KR102707516327075163single base substitutionGTintron_variant
LICA-FR102703357427033574single base substitutionCTdownstream_gene_variant
LICA-FR102703435827034358single base substitutionTGdownstream_gene_variant
LICA-FR102704184427041844single base substitutionGTintron_variant
LICA-FR102706214527062145insertion of <=200bp-TTTTTdownstream_gene_variant
LICA-FR102706214527062145insertion of <=200bp-TTTTTintron_variant
LICA-FR102707886327078863single base substitutionTCintron_variant
LICA-FR102708963927089639single base substitutionGAintron_variant
LICA-FR102712463727124637single base substitutionTCintron_variant
LICA-FR102713024727130247single base substitutionTCintron_variant
LINC-JP102703525327035253single base substitutionAGdownstream_gene_variant
LINC-JP102703617027036170single base substitutionTC3_prime_UTR_variant
LINC-JP102703617027036170single base substitutionTCdownstream_gene_variant
LINC-JP102704495527044955single base substitutionTCintron_variant
LINC-JP102705429727054297deletion of <=200bpA-intron_variant
LINC-JP102705429727054297single base substitutionATintron_variant
LINC-JP102706348127063481single base substitutionTCdownstream_gene_variant
LINC-JP102706348127063481single base substitutionTCintron_variant
LINC-JP102710068827100697deletion of <=200bpATTTGTATAA-intron_variant
LINC-JP102710347627103476single base substitutionTCintron_variant
LINC-JP102711289727112897deletion of <=200bpA-intron_variant
LINC-JP102711289727112897deletion of <=200bpA-upstream_gene_variant
LINC-JP102711461327114613single base substitutionTCintron_variant
LINC-JP102711461327114613single base substitutionTCupstream_gene_variant
LINC-JP102712329527123295single base substitutionGAintron_variant
LIRI-JP102703071427030714single base substitutionGAdownstream_gene_variant
LIRI-JP102703166527031665single base substitutionTAdownstream_gene_variant
LIRI-JP102703290627032906single base substitutionTGdownstream_gene_variant
LIRI-JP102703417627034176single base substitutionTGdownstream_gene_variant
LIRI-JP102703521027035210single base substitutionGTdownstream_gene_variant
LIRI-JP102703521127035211single base substitutionCTdownstream_gene_variant
LIRI-JP102703625427036254single base substitutionAG3_prime_UTR_variant
LIRI-JP102703625427036254single base substitutionAGdownstream_gene_variant
LIRI-JP102703784227037842insertion of <=200bp-AAintron_variant
LIRI-JP102703901427039014single base substitutionACintron_variant
LIRI-JP102703903327039033single base substitutionTCintron_variant
LIRI-JP102704219427042194deletion of <=200bpA-intron_variant
LIRI-JP102704369427043694single base substitutionTAintron_variant
LIRI-JP102704585727045872deletion of <=200bpCATTGTATAGCTAAAG-intron_variant
LIRI-JP102704640427046405deletion of <=200bpAC-intron_variant
LIRI-JP102704845427048454single base substitutionTCintron_variant
LIRI-JP102704894327048943single base substitutionGCintron_variant
LIRI-JP102705122127051221single base substitutionGCintron_variant
LIRI-JP102705123927051239single base substitutionAGintron_variant
LIRI-JP102705186027051860single base substitutionTCintron_variant
LIRI-JP102705250327052503single base substitutionACintron_variant
LIRI-JP102705271627052716single base substitutionTCintron_variant
LIRI-JP102705293127052931single base substitutionGAintron_variant
LIRI-JP102705412827054128insertion of <=200bp-Aintron_variant
LIRI-JP102705594627055946single base substitutionCTintron_variant
LIRI-JP102705596127055961single base substitutionATintron_variant
LIRI-JP102705621827056218single base substitutionGAintron_variant
LIRI-JP102705752127057521single base substitutionCGintron_variant
LIRI-JP102705811727058117single base substitutionTCintron_variant
LIRI-JP102705836827058368single base substitutionAGintron_variant
LIRI-JP102705874627058764deletion of <=200bpCAGACACCAATAGGCGAAA-intron_variant
LIRI-JP102706044827060448single base substitutionTCintron_variant
LIRI-JP102706384727063847single base substitutionTCdownstream_gene_variant
LIRI-JP102706384727063847single base substitutionTCintron_variant
LIRI-JP102706401427064014single base substitutionTCdownstream_gene_variant
LIRI-JP102706401427064014single base substitutionTCintron_variant
LIRI-JP102706669127066691single base substitutionACintron_variant
LIRI-JP102706808627068086single base substitutionAGintron_variant
LIRI-JP102706855627068556single base substitutionGCintron_variant
LIRI-JP102707001327070013single base substitutionACintron_variant
LIRI-JP102707223927072239single base substitutionGCintron_variant
LIRI-JP102707265727072657single base substitutionTAintron_variant
LIRI-JP102707655527076555single base substitutionGAintron_variant
LIRI-JP102707655627076556single base substitutionCAintron_variant
LIRI-JP102707720927077209single base substitutionCTintron_variant
LIRI-JP102707757927077579single base substitutionCAintron_variant
LIRI-JP102707886727078867single base substitutionTAintron_variant
LIRI-JP102708090427080904single base substitutionTCintron_variant
LIRI-JP102708102027081020single base substitutionCTintron_variant
LIRI-JP102708265227082652single base substitutionTGintron_variant
LIRI-JP102708362627083626single base substitutionTCintron_variant
LIRI-JP102708447227084472single base substitutionGCintron_variant
LIRI-JP102708455927084559single base substitutionACintron_variant
LIRI-JP102708538627085386single base substitutionGAintron_variant
LIRI-JP102708753427087534single base substitutionGTintron_variant
LIRI-JP102708821527088215single base substitutionGTintron_variant
LIRI-JP102708902927089029single base substitutionCTintron_variant
LIRI-JP102708995827089958single base substitutionGAintron_variant
LIRI-JP102709290627092906single base substitutionCTintron_variant
LIRI-JP102709448227094482single base substitutionCTintron_variant
LIRI-JP102709558927095589single base substitutionTCintron_variant
LIRI-JP102709725627097256single base substitutionTCintron_variant
LIRI-JP102709819127098191single base substitutionTCintron_variant
LIRI-JP102709864127098641single base substitutionTCintron_variant
LIRI-JP102710133027101330single base substitutionCTintron_variant
LIRI-JP102710133827101338single base substitutionAGintron_variant
LIRI-JP102710245627102456single base substitutionTCintron_variant
LIRI-JP102710517527105175single base substitutionTCintron_variant
LIRI-JP102710518627105186single base substitutionTGintron_variant
LIRI-JP102710623327106233single base substitutionTCintron_variant
LIRI-JP102710791127107911single base substitutionGAintron_variant
LIRI-JP102710915127109151single base substitutionTCintron_variant
LIRI-JP102711110627111106single base substitutionTAintron_variant
LIRI-JP102711343927113439single base substitutionTAintron_variant
LIRI-JP102711343927113439single base substitutionTAupstream_gene_variant
LIRI-JP102711450427114504single base substitutionCTintron_variant
LIRI-JP102711450427114504single base substitutionCTupstream_gene_variant
LIRI-JP102711921127119211single base substitutionTCintron_variant
LIRI-JP102712343827123438single base substitutionTAintron_variant
LIRI-JP102712554327125543single base substitutionGTintron_variant
LIRI-JP102712555027125550single base substitutionTGintron_variant
LIRI-JP102712569227125692single base substitutionTAintron_variant
LIRI-JP102712584527125845single base substitutionGAintron_variant
LIRI-JP102712753527127535single base substitutionAGintron_variant
LIRI-JP102712873527128735single base substitutionTCintron_variant
LIRI-JP102712964627129646single base substitutionGCintron_variant
LIRI-JP102712971927129719single base substitutionGCintron_variant
LIRI-JP102712978327129783single base substitutionGAintron_variant
LIRI-JP102713072927130729single base substitutionTCintron_variant
LIRI-JP102713499127134991single base substitutionACintron_variant
LIRI-JP102713502127135021single base substitutionACintron_variant
LIRI-JP102713574427135744single base substitutionAGintron_variant
LIRI-JP102713582727135827single base substitutionACintron_variant
LIRI-JP102714026927140269single base substitutionCGintron_variant
LIRI-JP102714282127142821single base substitutionTCintron_variant
LIRI-JP102714402027144020single base substitutionAGintron_variant
LIRI-JP102714549027145490single base substitutionATintron_variant
LIRI-JP102714811627148116single base substitutionGTintron_variant
LIRI-JP102714822427148224single base substitutionGAintron_variant
LIRI-JP102714823927148239single base substitutionAGintron_variant
LIRI-JP102714864627148646single base substitutionATintron_variant
LIRI-JP102715187927151879single base substitutionCTupstream_gene_variant
LUSC-KR102703478427034784single base substitutionGCdownstream_gene_variant
LUSC-KR102703776827037768single base substitutionATintron_variant
LUSC-KR102704152327041523single base substitutionGAintron_variant
LUSC-KR102704161027041610single base substitutionGCintron_variant
LUSC-KR102704162227041622single base substitutionTCintron_variant
LUSC-KR102704392727043927single base substitutionTGintron_variant
LUSC-KR102705155227051552single base substitutionTCintron_variant
LUSC-KR102707105227071052single base substitutionTCintron_variant
LUSC-KR102707339227073392single base substitutionCTintron_variant
LUSC-KR102709234027092340single base substitutionCAintron_variant
LUSC-KR102710368127103681single base substitutionTAintron_variant
LUSC-KR102710953527109535single base substitutionGTintron_variant
LUSC-KR102711243427112434single base substitutionCTintron_variant
LUSC-KR102711243427112434single base substitutionCTupstream_gene_variant
LUSC-KR102711651527116515single base substitutionTCintron_variant
LUSC-KR102711651527116515single base substitutionTCupstream_gene_variant
LUSC-KR102712225527122255single base substitutionCTintron_variant
LUSC-KR102713018127130181single base substitutionTCintron_variant
LUSC-KR102713352627133526single base substitutionTAintron_variant
LUSC-KR102713642627136426single base substitutionCAintron_variant
LUSC-KR102713849227138492single base substitutionCAintron_variant
LUSC-KR102714063727140637single base substitutionTGintron_variant
LUSC-KR102714745127147451single base substitutionGCintron_variant
LUSC-KR102714990827149908single base substitutionGA5_prime_UTR_variant
LUSC-KR102714990827149908single base substitutionGAupstream_gene_variant
LUSC-US102704069127040691single base substitutionGAmissense_variantP217L650C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP282L845C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP311L932C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP334L1001C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP339L1016C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP340L1019C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP363L1088C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP364L1091C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP368L1103C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP369L1106C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP370L1109C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP384L1151C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP396L1187C>T
LUSC-US102704069127040691single base substitutionGAmissense_variantP397L1190C>T
LUSC-US102705927427059274single base substitutionGAmissense_variantH155Y463C>T
LUSC-US102705927427059274single base substitutionGAmissense_variantH160Y478C>T
LUSC-US102705927427059274single base substitutionGAmissense_variantH161Y481C>T
LUSC-US102705927427059274single base substitutionGAmissense_variantH177Y529C>T
LUSC-US102705927427059274single base substitutionGAmissense_variantH96Y286C>T
LUSC-US102705927527059275single base substitutionCAsplice_acceptor_variant
LUSC-US102711209827112098single base substitutionCTexon_variant
LUSC-US102711209827112098single base substitutionCTmissense_variantR102K305G>A
LUSC-US102711209827112098single base substitutionCTmissense_variantR85K254G>A
MALY-DE102703126427031264single base substitutionCTdownstream_gene_variant
MALY-DE102703130327031303single base substitutionGCdownstream_gene_variant
MALY-DE102703131027031310single base substitutionAGdownstream_gene_variant
MALY-DE102703486827034868single base substitutionTCdownstream_gene_variant
MALY-DE102703573727035737single base substitutionTC3_prime_UTR_variant
MALY-DE102703573727035737single base substitutionTCdownstream_gene_variant
MALY-DE102703673027036730single base substitutionAG3_prime_UTR_variant
MALY-DE102703673027036730single base substitutionAGdownstream_gene_variant
MALY-DE102704187527041875single base substitutionAGintron_variant
MALY-DE102704466427044664single base substitutionACintron_variant
MALY-DE102704466427044664single base substitutionACmissense_variantI277S830T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI329S986T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI330S989T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI334S1001T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI335S1004T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI336S1007T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI362S1085T>G
MALY-DE102704466427044664single base substitutionACmissense_variantI363S1088T>G
MALY-DE102704511327045113single base substitutionTCintron_variant
MALY-DE102704565527045655single base substitutionGTintron_variant
MALY-DE102704593027045930single base substitutionCTintron_variant
MALY-DE102705726227057262single base substitutionGAintron_variant
MALY-DE102706032527060329deletion of <=200bpAGATG-intron_variant
MALY-DE102706927927069279single base substitutionCTintron_variant
MALY-DE102707463227074632single base substitutionCTintron_variant
MALY-DE102707783727077837single base substitutionGAintron_variant
MALY-DE102707935227079352single base substitutionACintron_variant
MALY-DE102707942327079423single base substitutionTGintron_variant
MALY-DE102708050627080506single base substitutionGAintron_variant
MALY-DE102708458827084588deletion of <=200bpA-intron_variant
MALY-DE102708479827084800deletion of <=200bpTCC-intron_variant
MALY-DE102709159727091597single base substitutionATintron_variant
MALY-DE102709450127094501single base substitutionAGintron_variant
MALY-DE102710601327106013single base substitutionCTintron_variant
MALY-DE102712722327127223single base substitutionTCintron_variant
MALY-DE102713808327138085deletion of <=200bpTAC-intron_variant
MALY-DE102714521927145219single base substitutionACintron_variant
MALY-DE102715089227150892single base substitutionCTupstream_gene_variant
MELA-AU102703397227033972single base substitutionAGdownstream_gene_variant
MELA-AU102703409227034092single base substitutionCTdownstream_gene_variant
MELA-AU102703536427035364single base substitutionAGdownstream_gene_variant
MELA-AU102703548927035489single base substitutionGAdownstream_gene_variant
MELA-AU102703817027038170single base substitutionGAintron_variant
MELA-AU102703893027038931multiple base substitution (>=2bp and <=200bp)CCATintron_variant
MELA-AU102704026427040264single base substitutionCTintron_variant
MELA-AU102704489027044890single base substitutionTCintron_variant
MELA-AU102704930327049304multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102705001527050015single base substitutionGTintron_variant
MELA-AU102705059227050592single base substitutionCTintron_variant
MELA-AU102705110127051101single base substitutionATintron_variant
MELA-AU102705286327052863single base substitutionCTintron_variant
MELA-AU102705286327052863single base substitutionCTmissense_variantG283R847G>A
MELA-AU102705286327052863single base substitutionCTmissense_variantG284R850G>A
MELA-AU102705286327052863single base substitutionCTmissense_variantG300R898G>A
MELA-AU102705320927053209single base substitutionTAintron_variant
MELA-AU102705394727053947single base substitutionGAintron_variant
MELA-AU102705441127054411single base substitutionGTintron_variant
MELA-AU102705454427054544single base substitutionCTintron_variant
MELA-AU102705463127054631single base substitutionGAintron_variant
MELA-AU102705791127057911single base substitutionGAmissense_variantP133S397C>T
MELA-AU102705791127057911single base substitutionGAmissense_variantP192S574C>T
MELA-AU102705791127057911single base substitutionGAmissense_variantP197S589C>T
MELA-AU102705791127057911single base substitutionGAmissense_variantP198S592C>T
MELA-AU102705791127057911single base substitutionGAmissense_variantP214S640C>T
MELA-AU102705795727057957single base substitutionACintron_variant
MELA-AU102705843227058432single base substitutionGAintron_variant
MELA-AU102705876127058761single base substitutionGAintron_variant
MELA-AU102705928927059289single base substitutionGAintron_variant
MELA-AU102706004527060045deletion of <=200bpA-intron_variant
MELA-AU102706007127060072deletion of <=200bpGT-intron_variant
MELA-AU102706143827061438single base substitutionGAdownstream_gene_variant
MELA-AU102706143827061438single base substitutionGAintron_variant
MELA-AU102706186527061865single base substitutionGAdownstream_gene_variant
MELA-AU102706186527061865single base substitutionGAintron_variant
MELA-AU102706226627062266single base substitutionGAdownstream_gene_variant
MELA-AU102706226627062266single base substitutionGAintron_variant
MELA-AU102706234927062349single base substitutionGAdownstream_gene_variant
MELA-AU102706234927062349single base substitutionGAintron_variant
MELA-AU102706273827062738single base substitutionCTdownstream_gene_variant
MELA-AU102706273827062738single base substitutionCTintron_variant
MELA-AU102706391027063910single base substitutionATdownstream_gene_variant
MELA-AU102706391027063910single base substitutionATintron_variant
MELA-AU102706530727065308multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU102706530727065308multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102706552427065524single base substitutionGAdownstream_gene_variant
MELA-AU102706552427065524single base substitutionGAintron_variant
MELA-AU102706576527065765single base substitutionGAexon_variant
MELA-AU102706576527065765single base substitutionGAintron_variant
MELA-AU102706745427067454single base substitutionGAintron_variant
MELA-AU102706810727068107single base substitutionGAintron_variant
MELA-AU102706957527069575single base substitutionTCintron_variant
MELA-AU102707032427070324single base substitutionCAintron_variant
MELA-AU102707092227070922single base substitutionGAintron_variant
MELA-AU102707264427072644single base substitutionGCintron_variant
MELA-AU102707341927073420multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102707502427075024single base substitutionGAintron_variant
MELA-AU102707587627075876single base substitutionAGintron_variant
MELA-AU102707594227075942single base substitutionGAintron_variant
MELA-AU102707721427077214single base substitutionTAintron_variant
MELA-AU102707728227077283multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102707768627077686insertion of <=200bp-Aintron_variant
MELA-AU102707775927077759single base substitutionAGintron_variant
MELA-AU102707782927077829single base substitutionGAintron_variant
MELA-AU102707808827078088single base substitutionGAintron_variant
MELA-AU102707888027078880single base substitutionGAintron_variant
MELA-AU102707910127079101single base substitutionGAintron_variant
MELA-AU102707951527079515single base substitutionGAintron_variant
MELA-AU102707981227079812single base substitutionAGintron_variant
MELA-AU102708080427080804single base substitutionTGintron_variant
MELA-AU102708088727080887single base substitutionGAintron_variant
MELA-AU102708325127083251single base substitutionGTintron_variant
MELA-AU102708384927083849single base substitutionGAintron_variant
MELA-AU102708389427083894single base substitutionGAintron_variant
MELA-AU102708455227084552single base substitutionGAintron_variant
MELA-AU102708487327084873single base substitutionGAintron_variant
MELA-AU102708514727085147single base substitutionGAintron_variant
MELA-AU102708517027085170single base substitutionGAintron_variant
MELA-AU102708518327085183single base substitutionAGintron_variant
MELA-AU102708555927085559single base substitutionGAintron_variant
MELA-AU102708585527085855single base substitutionGAintron_variant
MELA-AU102708601727086017single base substitutionCTintron_variant
MELA-AU102708634827086348single base substitutionGAintron_variant
MELA-AU102708724027087240single base substitutionGAintron_variant
MELA-AU102708763027087630single base substitutionACintron_variant
MELA-AU102708790827087908single base substitutionATintron_variant
MELA-AU102708840427088404single base substitutionGAintron_variant
MELA-AU102708859227088592single base substitutionGAintron_variant
MELA-AU102708870627088706single base substitutionTCintron_variant
MELA-AU102708913427089134single base substitutionGAintron_variant
MELA-AU102708959327089593single base substitutionGAintron_variant
MELA-AU102709119427091194single base substitutionGAintron_variant
MELA-AU102709247527092475single base substitutionTAintron_variant
MELA-AU102709254027092540single base substitutionCTintron_variant
MELA-AU102709293227092932single base substitutionACintron_variant
MELA-AU102709298127092981single base substitutionACintron_variant
MELA-AU102709428227094282single base substitutionGAintron_variant
MELA-AU102709438327094384multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102709454427094544single base substitutionAGintron_variant
MELA-AU102709456027094560single base substitutionGAintron_variant
MELA-AU102709483527094835single base substitutionGAintron_variant
MELA-AU102709589027095890single base substitutionTCintron_variant
MELA-AU102709591027095910single base substitutionACintron_variant
MELA-AU102709624927096249single base substitutionGAintron_variant
MELA-AU102709636327096363single base substitutionATintron_variant
MELA-AU102709665927096659single base substitutionGAintron_variant
MELA-AU102709731127097311single base substitutionGAintron_variant
MELA-AU102709771127097711single base substitutionGAintron_variant
MELA-AU102709800827098008single base substitutionGAintron_variant
MELA-AU102709847427098474single base substitutionGAintron_variant
MELA-AU102709877427098774single base substitutionGAintron_variant
MELA-AU102709960227099602single base substitutionACintron_variant
MELA-AU102709984127099841single base substitutionGAintron_variant
MELA-AU102709987227099872single base substitutionGAintron_variant
MELA-AU102710108227101082single base substitutionGAintron_variant
MELA-AU102710116127101161single base substitutionGAintron_variant
MELA-AU102710144527101445single base substitutionCTintron_variant
MELA-AU102710145627101456single base substitutionGAintron_variant
MELA-AU102710215427102154single base substitutionGAintron_variant
MELA-AU102710222727102227single base substitutionGAintron_variant
MELA-AU102710226827102268single base substitutionGAintron_variant
MELA-AU102710233227102332single base substitutionGAintron_variant
MELA-AU102710324727103247single base substitutionTAintron_variant
MELA-AU102710330027103300single base substitutionGAintron_variant
MELA-AU102710338327103383single base substitutionAGintron_variant
MELA-AU102710366027103660single base substitutionGAintron_variant
MELA-AU102710532927105329single base substitutionGTintron_variant
MELA-AU102710566827105668single base substitutionGAintron_variant
MELA-AU102710575327105754multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU102710611327106113single base substitutionGAintron_variant
MELA-AU102710655827106559multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102710665927106659single base substitutionATintron_variant
MELA-AU102710740127107401single base substitutionAGintron_variant
MELA-AU102710770327107703single base substitutionGAintron_variant
MELA-AU102710779827107798single base substitutionATintron_variant
MELA-AU102710789027107890single base substitutionCTintron_variant
MELA-AU102710794627107946single base substitutionGCintron_variant
MELA-AU102710896527108965single base substitutionGAintron_variant
MELA-AU102711007327110073single base substitutionGAintron_variant
MELA-AU102711022327110223single base substitutionGAintron_variant
MELA-AU102711039227110392single base substitutionGTintron_variant
MELA-AU102711060127110601single base substitutionGAintron_variant
MELA-AU102711065527110655single base substitutionGAintron_variant
MELA-AU102711066327110663single base substitutionGAintron_variant
MELA-AU102711151227111512single base substitutionGAintron_variant
MELA-AU102711162227111622single base substitutionGAintron_variant
MELA-AU102711163627111636single base substitutionGAintron_variant
MELA-AU102711190927111910multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102711270227112702insertion of <=200bp-Aintron_variant
MELA-AU102711270227112702insertion of <=200bp-Aupstream_gene_variant
MELA-AU102711338227113382single base substitutionAGintron_variant
MELA-AU102711338227113382single base substitutionAGupstream_gene_variant
MELA-AU102711339727113397single base substitutionCTintron_variant
MELA-AU102711339727113397single base substitutionCTupstream_gene_variant
MELA-AU102711429027114290single base substitutionGAintron_variant
MELA-AU102711429027114290single base substitutionGAupstream_gene_variant
MELA-AU102711438727114387single base substitutionCTintron_variant
MELA-AU102711438727114387single base substitutionCTupstream_gene_variant
MELA-AU102711464427114644single base substitutionGAintron_variant
MELA-AU102711464427114644single base substitutionGAupstream_gene_variant
MELA-AU102711499627114996single base substitutionGAintron_variant
MELA-AU102711499627114996single base substitutionGAupstream_gene_variant
MELA-AU102711500427115004single base substitutionGAintron_variant
MELA-AU102711500427115004single base substitutionGAupstream_gene_variant
MELA-AU102711576927115769single base substitutionCTintron_variant
MELA-AU102711576927115769single base substitutionCTupstream_gene_variant
MELA-AU102711609927116099single base substitutionCTintron_variant
MELA-AU102711609927116099single base substitutionCTupstream_gene_variant
MELA-AU102711804127118041single base substitutionGAintron_variant
MELA-AU102711883027118830single base substitutionGTintron_variant
MELA-AU102711979727119797single base substitutionCAintron_variant
MELA-AU102712157127121571single base substitutionGAintron_variant
MELA-AU102712215827122158deletion of <=200bpA-intron_variant
MELA-AU102712325727123257single base substitutionGTintron_variant
MELA-AU102712478727124787single base substitutionGAintron_variant
MELA-AU102712501027125010single base substitutionGAintron_variant
MELA-AU102712637827126378single base substitutionGAintron_variant
MELA-AU102712643327126433single base substitutionCAintron_variant
MELA-AU102712677227126772single base substitutionGAintron_variant
MELA-AU102712718927127189single base substitutionGAintron_variant
MELA-AU102712772227127722single base substitutionGAintron_variant
MELA-AU102712779027127790single base substitutionCAintron_variant
MELA-AU102712887027128870single base substitutionGAintron_variant
MELA-AU102712910927129109single base substitutionGAintron_variant
MELA-AU102712928227129282single base substitutionTGintron_variant
MELA-AU102712965027129650single base substitutionATintron_variant
MELA-AU102713418727134187single base substitutionAGintron_variant
MELA-AU102713456027134560single base substitutionGAintron_variant
MELA-AU102713546127135462multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102713619527136195single base substitutionGAintron_variant
MELA-AU102713636127136361single base substitutionGAintron_variant
MELA-AU102713953127139531single base substitutionGAintron_variant
MELA-AU102713996627139966single base substitutionGAintron_variant
MELA-AU102714032727140328multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU102714095527140956multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU102714161727141617single base substitutionAGintron_variant
MELA-AU102714165527141655single base substitutionCAintron_variant
MELA-AU102714225227142252single base substitutionCAintron_variant
MELA-AU102714291827142918single base substitutionTAintron_variant
MELA-AU102714352527143525single base substitutionGAintron_variant
MELA-AU102714395027143950single base substitutionATintron_variant
MELA-AU102714454727144547single base substitutionCTintron_variant
MELA-AU102714468627144686single base substitutionGAintron_variant
MELA-AU102714657727146577single base substitutionATintron_variant
MELA-AU102714828027148280single base substitutionCTintron_variant
MELA-AU102714983527149835single base substitutionGA5_prime_UTR_premature_start_codon_gain_variant
MELA-AU102714983527149835single base substitutionGAupstream_gene_variant
MELA-AU102715001427150014single base substitutionCT5_prime_UTR_variant
MELA-AU102715001427150014single base substitutionCTupstream_gene_variant
MELA-AU102715002827150028single base substitutionGAupstream_gene_variant
MELA-AU102715008227150082single base substitutionCTupstream_gene_variant
MELA-AU102715067927150679single base substitutionGAupstream_gene_variant
MELA-AU102715128627151286single base substitutionCTupstream_gene_variant
MELA-AU102715221827152218single base substitutionGAupstream_gene_variant
MELA-AU102715269727152697single base substitutionCTupstream_gene_variant
MELA-AU102715282427152824single base substitutionGAupstream_gene_variant
MELA-AU102715291827152918single base substitutionGAupstream_gene_variant
MELA-AU102715317827153178single base substitutionGTupstream_gene_variant
MELA-AU102715364727153647single base substitutionCTupstream_gene_variant
MELA-AU102715394027153940single base substitutionGAupstream_gene_variant
MELA-AU102715436927154369single base substitutionGCupstream_gene_variant
ORCA-IN102704691027046910single base substitutionTCintron_variant
ORCA-IN102704958427049584single base substitutionCTintron_variant
ORCA-IN102705344827053448single base substitutionCAintron_variant
ORCA-IN102710164027101640single base substitutionGCintron_variant
ORCA-IN102711697127116971single base substitutionGAintron_variant
ORCA-IN102711697127116971single base substitutionGAupstream_gene_variant
OV-AU102703350127033501single base substitutionGCdownstream_gene_variant
OV-AU102703801127038011single base substitutionTGintron_variant
OV-AU102703942027039420single base substitutionCTintron_variant
OV-AU102704567427045674single base substitutionGAintron_variant
OV-AU102705323827053238single base substitutionCGintron_variant
OV-AU102705462427054624single base substitutionTGintron_variant
OV-AU102705573227055732single base substitutionTCintron_variant
OV-AU102706787827067878single base substitutionGCintron_variant
OV-AU102707114827071148single base substitutionTAintron_variant
OV-AU102707535027075350single base substitutionGAintron_variant
OV-AU102707673027076730single base substitutionCAintron_variant
OV-AU102708291627082916single base substitutionAGintron_variant
OV-AU102708570427085704single base substitutionCGintron_variant
OV-AU102708676427086764single base substitutionTCintron_variant
OV-AU102708900827089008single base substitutionTCintron_variant
OV-AU102708904527089045single base substitutionGCintron_variant
OV-AU102709720227097202single base substitutionTAintron_variant
OV-AU102710097027100970single base substitutionATintron_variant
OV-AU102710893027108930single base substitutionGAintron_variant
OV-AU102711028827110288single base substitutionATintron_variant
OV-AU102711101227111012single base substitutionGCintron_variant
OV-AU102711523727115237single base substitutionTCintron_variant
OV-AU102711523727115237single base substitutionTCupstream_gene_variant
OV-AU102712136427121364single base substitutionTAintron_variant
OV-AU102712408227124082single base substitutionGTintron_variant
OV-AU102712736627127366single base substitutionAGintron_variant
OV-AU102712906327129063single base substitutionCTintron_variant
OV-AU102713102127131021single base substitutionTAintron_variant
OV-AU102713551227135512single base substitutionTAintron_variant
OV-AU102714135027141350single base substitutionGTintron_variant
OV-AU102714584027145840single base substitutionCAintron_variant
OV-AU102715336527153365single base substitutionGTupstream_gene_variant
PACA-AU102703216227032162deletion of <=200bpT-downstream_gene_variant
PACA-AU102703724527037245single base substitutionCA3_prime_UTR_variant
PACA-AU102703724527037245single base substitutionCAdownstream_gene_variant
PACA-AU102703993127039931single base substitutionCTintron_variant
PACA-AU102704388127043881single base substitutionCAintron_variant
PACA-AU102704537527045375single base substitutionAGintron_variant
PACA-AU102705129227051292single base substitutionCTintron_variant
PACA-AU102706004527060045deletion of <=200bpA-intron_variant
PACA-AU102706140327061403single base substitutionTAdownstream_gene_variant
PACA-AU102706140327061403single base substitutionTAintron_variant
PACA-AU102708316827083173deletion of <=200bpAAATAA-intron_variant
PACA-AU102708424627084246single base substitutionGAintron_variant
PACA-AU102708528627085286single base substitutionTCintron_variant
PACA-AU102708839327088393single base substitutionCTintron_variant
PACA-AU102709392227093922single base substitutionGCintron_variant
PACA-AU102709855227098552deletion of <=200bpA-intron_variant
PACA-AU102709913327099133single base substitutionCGintron_variant
PACA-AU102709913427099134single base substitutionCAintron_variant
PACA-AU102710825527108255single base substitutionCTintron_variant
PACA-AU102711195127111951single base substitutionTGintron_variant
PACA-AU102712804627128046single base substitutionTGintron_variant
PACA-AU102712890627128906single base substitutionGCintron_variant
PACA-AU102712895727128957single base substitutionGAintron_variant
PACA-AU102712902527129025single base substitutionGCintron_variant
PACA-AU102712907927129079single base substitutionGCintron_variant
PACA-AU102712927527129275single base substitutionGAintron_variant
PACA-AU102712929427129294single base substitutionGCintron_variant
PACA-AU102712938527129385single base substitutionGCintron_variant
PACA-AU102712942827129428single base substitutionGAintron_variant
PACA-AU102712950027129500single base substitutionGCintron_variant
PACA-AU102712986127129861single base substitutionGAintron_variant
PACA-AU102712990127129901single base substitutionGTintron_variant
PACA-AU102713014427130144single base substitutionGAintron_variant
PACA-AU102713077127130771single base substitutionGAintron_variant
PACA-AU102713083527130835single base substitutionGCintron_variant
PACA-AU102713110527131105single base substitutionGAintron_variant
PACA-AU102713343627133436single base substitutionACintron_variant
PACA-AU102713991527139917deletion of <=200bpGAA-intron_variant
PACA-AU102714113127141131single base substitutionGAintron_variant
PACA-AU102714200427142004single base substitutionGTintron_variant
PACA-AU102714224127142241single base substitutionTAintron_variant
PACA-AU102714303427143034single base substitutionCAintron_variant
PACA-AU102714750627147507deletion of <=200bpTG-intron_variant
PACA-AU102714831427148314deletion of <=200bpG-intron_variant
PACA-AU102715129327151293single base substitutionCAupstream_gene_variant
PACA-AU102715224427152244single base substitutionGTupstream_gene_variant
PACA-AU102715471427154714single base substitutionGCupstream_gene_variant
PACA-CA102703092927030929single base substitutionCTdownstream_gene_variant
PACA-CA102703652527036525single base substitutionAG3_prime_UTR_variant
PACA-CA102703652527036525single base substitutionAGdownstream_gene_variant
PACA-CA102704348227043482single base substitutionGAintron_variant
PACA-CA102704530127045301single base substitutionTCintron_variant
PACA-CA102705683627056836single base substitutionGAintron_variant
PACA-CA102705934527059345insertion of <=200bp-Tintron_variant
PACA-CA102705993027059930single base substitutionATintron_variant
PACA-CA102706208927062089single base substitutionTCdownstream_gene_variant
PACA-CA102706208927062089single base substitutionTCintron_variant
PACA-CA102706442727064427single base substitutionAGdownstream_gene_variant
PACA-CA102706442727064427single base substitutionAGintron_variant
PACA-CA102706609227066092single base substitutionGAexon_variant
PACA-CA102706609227066092single base substitutionGAintron_variant
PACA-CA102706609227066092single base substitutionGAmissense_variantH122Y364C>T
PACA-CA102706609227066092single base substitutionGAmissense_variantH139Y415C>T
PACA-CA102706610027066100single base substitutionGCexon_variant
PACA-CA102706610027066100single base substitutionGCintron_variant
PACA-CA102706610027066100single base substitutionGCstop_gainedS119*356C>G
PACA-CA102706610027066100single base substitutionGCstop_gainedS136*407C>G
PACA-CA102706618527066185single base substitutionGCintron_variant
PACA-CA102706624027066240single base substitutionGAintron_variant
PACA-CA102706718827067188single base substitutionTCintron_variant
PACA-CA102707616927076169single base substitutionGTintron_variant
PACA-CA102707707827077078single base substitutionGCintron_variant
PACA-CA102708070027080700single base substitutionGAintron_variant
PACA-CA102708453127084531single base substitutionCAintron_variant
PACA-CA102708638327086383single base substitutionTCintron_variant
PACA-CA102709139927091399insertion of <=200bp-GAintron_variant
PACA-CA102709394027093940single base substitutionGAintron_variant
PACA-CA102709674227096742single base substitutionCTintron_variant
PACA-CA102709718027097180single base substitutionTCintron_variant
PACA-CA102709871227098712single base substitutionATintron_variant
PACA-CA102710014527100145single base substitutionAGintron_variant
PACA-CA102710049727100497single base substitutionCGintron_variant
PACA-CA102710156927101569single base substitutionCTintron_variant
PACA-CA102710229427102294single base substitutionGAintron_variant
PACA-CA102710402127104021single base substitutionATintron_variant
PACA-CA102710412927104129insertion of <=200bp-Cintron_variant
PACA-CA102710413027104130deletion of <=200bpC-intron_variant
PACA-CA102710814727108147single base substitutionCAintron_variant
PACA-CA102711358127113581single base substitutionCGintron_variant
PACA-CA102711358127113581single base substitutionCGupstream_gene_variant
PACA-CA102711414327114143single base substitutionTCintron_variant
PACA-CA102711414327114143single base substitutionTCupstream_gene_variant
PACA-CA102712893927128939insertion of <=200bp-Aintron_variant
PACA-CA102713334327133343single base substitutionATintron_variant
PACA-CA102713836427138364single base substitutionGAintron_variant
PACA-CA102713903827139038single base substitutionCAintron_variant
PACA-CA102714342927143429single base substitutionTCintron_variant
PACA-CA102714594427145944single base substitutionAGintron_variant
PACA-CA102715425027154250single base substitutionGTupstream_gene_variant
PAEN-AU102705222927052229single base substitutionGAintron_variant
PAEN-AU102709144327091443single base substitutionTCintron_variant
PAEN-AU102710692927106929single base substitutionAGintron_variant
PAEN-IT102703127627031276single base substitutionCAdownstream_gene_variant
PAEN-IT102706883127068831single base substitutionCTintron_variant
PBCA-DE102703358627033586single base substitutionGAdownstream_gene_variant
PBCA-DE102704153527041535insertion of <=200bp-Aintron_variant
PBCA-DE102704615527046155single base substitutionATintron_variant
PBCA-DE102705391327053913deletion of <=200bpT-intron_variant
PBCA-DE102705969827059699deletion of <=200bpTG-intron_variant
PBCA-DE102708436127084361insertion of <=200bp-Aintron_variant
PBCA-DE102709409527094095single base substitutionGCintron_variant
PBCA-DE102709447827094478single base substitutionCTintron_variant
PBCA-DE102710014927100149single base substitutionTGintron_variant
PBCA-DE102710068827100697deletion of <=200bpATTTGTATAA-intron_variant
PBCA-DE102711354027113540deletion of <=200bpA-intron_variant
PBCA-DE102711354027113540deletion of <=200bpA-upstream_gene_variant
PBCA-DE102711769627117696single base substitutionTCintron_variant
PBCA-DE102711774927117749single base substitutionCTintron_variant
PBCA-DE102712451027124510deletion of <=200bpA-intron_variant
PBCA-DE102715086227150862single base substitutionCTupstream_gene_variant
PBCA-DE102715456527154565single base substitutionTCupstream_gene_variant
PRAD-CA102703617327036173single base substitutionCG3_prime_UTR_variant
PRAD-CA102703617327036173single base substitutionCGdownstream_gene_variant
PRAD-CA102705278827052788single base substitutionCTintron_variant
PRAD-CA102706477427064774single base substitutionCTdownstream_gene_variant
PRAD-CA102706477427064774single base substitutionCTintron_variant
PRAD-CA102708956027089560single base substitutionTAintron_variant
PRAD-CA102709331127093311single base substitutionATintron_variant
PRAD-CA102715212927152129single base substitutionACupstream_gene_variant
PRAD-CA102715348827153488single base substitutionGAupstream_gene_variant
PRAD-UK102704708027047080single base substitutionGCintron_variant
PRAD-UK102707077027070770single base substitutionCTintron_variant
PRAD-UK102707454527074545single base substitutionCTintron_variant
PRAD-UK102707718227077182single base substitutionCTintron_variant
PRAD-UK102708122227081222single base substitutionCTintron_variant
PRAD-UK102708235027082353deletion of <=200bpATAG-intron_variant
PRAD-UK102709248527092485deletion of <=200bpT-intron_variant
PRAD-UK102711233927112339single base substitutionATintron_variant
PRAD-UK102711233927112339single base substitutionATupstream_gene_variant
PRAD-UK102711343027113430single base substitutionGCintron_variant
PRAD-UK102711343027113430single base substitutionGCupstream_gene_variant
PRAD-UK102711998127119981single base substitutionCAintron_variant
PRAD-UK102714194027141940deletion of <=200bpG-intron_variant
PRAD-UK102715184727151847single base substitutionAGupstream_gene_variant
RECA-EU102707145827071458single base substitutionCTintron_variant
RECA-EU102707468527074685single base substitutionGTintron_variant
RECA-EU102707836227078362single base substitutionGAintron_variant
RECA-EU102708001627080016single base substitutionACintron_variant
RECA-EU102708449027084490single base substitutionGTintron_variant
RECA-EU102709366127093661single base substitutionATintron_variant
RECA-EU102709580127095801single base substitutionAGintron_variant
RECA-EU102710372627103726single base substitutionCTintron_variant
RECA-EU102710562727105627single base substitutionTAintron_variant
RECA-EU102711980127119801single base substitutionACintron_variant
RECA-EU102712539127125391single base substitutionTCintron_variant
RECA-EU102712566427125664single base substitutionTCintron_variant
RECA-EU102714113627141136single base substitutionCTintron_variant
RECA-EU102714673127146731single base substitutionTGintron_variant
RECA-EU102715395527153955single base substitutionAGupstream_gene_variant
SKCA-BR102703123927031239single base substitutionAGdownstream_gene_variant
SKCA-BR102704116727041167single base substitutionCAintron_variant
SKCA-BR102704207227042072single base substitutionCTintron_variant
SKCA-BR102704699727046999deletion of <=200bpCAA-intron_variant
SKCA-BR102704752327047523single base substitutionGAintron_variant
SKCA-BR102704842827048428single base substitutionCGintron_variant
SKCA-BR102704901127049011single base substitutionTAintron_variant
SKCA-BR102705940027059400single base substitutionACintron_variant
SKCA-BR102706395227063952single base substitutionCTdownstream_gene_variant
SKCA-BR102706395227063952single base substitutionCTintron_variant
SKCA-BR102706542927065429single base substitutionTCdownstream_gene_variant
SKCA-BR102706542927065429single base substitutionTCintron_variant
SKCA-BR102706757527067575single base substitutionGAintron_variant
SKCA-BR102707165027071651deletion of <=200bpCA-intron_variant
SKCA-BR102707444327074443single base substitutionGAintron_variant
SKCA-BR102707620527076205single base substitutionTAintron_variant
SKCA-BR102707680127076801single base substitutionATintron_variant
SKCA-BR102707848127078481single base substitutionACintron_variant
SKCA-BR102708108127081081single base substitutionGAintron_variant
SKCA-BR102708600127086001single base substitutionACintron_variant
SKCA-BR102709143927091439single base substitutionGAintron_variant
SKCA-BR102709420127094201single base substitutionTGintron_variant
SKCA-BR102709674427096744single base substitutionGAintron_variant
SKCA-BR102709799327097993single base substitutionGAintron_variant
SKCA-BR102710218327102183insertion of <=200bp-CAintron_variant
SKCA-BR102710231627102316single base substitutionGAintron_variant
SKCA-BR102710475927104759single base substitutionGTintron_variant
SKCA-BR102710544327105443single base substitutionGAintron_variant
SKCA-BR102710951727109517insertion of <=200bp-CTintron_variant
SKCA-BR102711017227110172insertion of <=200bp-TAAintron_variant
SKCA-BR102711200827112008single base substitutionCTintron_variant
SKCA-BR102711583927115840deletion of <=200bpAT-intron_variant
SKCA-BR102711583927115840deletion of <=200bpAT-upstream_gene_variant
SKCA-BR102711585427115854single base substitutionCTintron_variant
SKCA-BR102711585427115854single base substitutionCTupstream_gene_variant
SKCA-BR102711586127115861single base substitutionGTintron_variant
SKCA-BR102711586127115861single base substitutionGTupstream_gene_variant
SKCA-BR102711955327119553insertion of <=200bp-TAintron_variant
SKCA-BR102712156727121567single base substitutionGAintron_variant
SKCA-BR102712403527124035insertion of <=200bp-AACintron_variant
SKCA-BR102712470727124707single base substitutionTAintron_variant
SKCA-BR102712573227125732single base substitutionATintron_variant
SKCA-BR102712588727125887single base substitutionTAintron_variant
SKCA-BR102712618627126186single base substitutionGAintron_variant
SKCA-BR102712688827126888single base substitutionGAintron_variant
SKCA-BR102712859427128594single base substitutionATintron_variant
SKCA-BR102712859527128595insertion of <=200bp-AATintron_variant
SKCA-BR102712920627129206single base substitutionCTintron_variant
SKCA-BR102713240827132424deletion of <=200bpAAAAAAAATATATATAT-intron_variant
SKCA-BR102713240927132422deletion of <=200bpAAAAAAATATATAT-intron_variant
SKCA-BR102713260327132603single base substitutionCTintron_variant
SKCA-BR102713714927137155deletion of <=200bpAAAGAAG-intron_variant
SKCA-BR102713731527137315single base substitutionTAintron_variant
SKCA-BR102713967027139670single base substitutionGAintron_variant
SKCA-BR102714027727140277insertion of <=200bp-ATTintron_variant
SKCA-BR102714238527142385single base substitutionGAintron_variant
SKCA-BR102714245827142462deletion of <=200bpCTTTT-intron_variant
SKCA-BR102714657227146574deletion of <=200bpCAA-intron_variant
SKCA-BR102714746527147466deletion of <=200bpAG-intron_variant
SKCA-BR102714747327147473single base substitutionAGintron_variant
SKCA-BR102714820127148201single base substitutionATintron_variant
SKCA-BR102714981527149815single base substitutionCT5_prime_UTR_variant
SKCA-BR102714981527149815single base substitutionCTupstream_gene_variant
SKCA-BR102715465627154656single base substitutionTGupstream_gene_variant
SKCA-BR102715497227154973deletion of <=200bpAG-upstream_gene_variant
SKCA-BR102715497327154973single base substitutionGAupstream_gene_variant
SKCM-US102705286327052863single base substitutionCTintron_variant
SKCM-US102705286327052863single base substitutionCTmissense_variantG283R847G>A
SKCM-US102705286327052863single base substitutionCTmissense_variantG284R850G>A
SKCM-US102705286327052863single base substitutionCTmissense_variantG300R898G>A
SKCM-US102705288027052880single base substitutionGAintron_variant
SKCM-US102705288027052880single base substitutionGAmissense_variantS277F830C>T
SKCM-US102705288027052880single base substitutionGAmissense_variantS278F833C>T
SKCM-US102705288027052880single base substitutionGAmissense_variantS294F881C>T
SKCM-US102705920527059205single base substitutionTCmissense_variantS119G355A>G
SKCM-US102705920527059205single base substitutionTCmissense_variantS178G532A>G
SKCM-US102705920527059205single base substitutionTCmissense_variantS183G547A>G
SKCM-US102705920527059205single base substitutionTCmissense_variantS184G550A>G
SKCM-US102705920527059205single base substitutionTCmissense_variantS200G598A>G
SKCM-US102705922227059222single base substitutionGAmissense_variantP113L338C>T
SKCM-US102705922227059222single base substitutionGAmissense_variantP172L515C>T
SKCM-US102705922227059222single base substitutionGAmissense_variantP177L530C>T
SKCM-US102705922227059222single base substitutionGAmissense_variantP178L533C>T
SKCM-US102705922227059222single base substitutionGAmissense_variantP194L581C>T
SKCM-US102706603727066037single base substitutionGAexon_variant
SKCM-US102706603727066037single base substitutionGAintron_variant
SKCM-US102706603727066037single base substitutionGAmissense_variantP140L419C>T
SKCM-US102706603727066037single base substitutionGAmissense_variantP157L470C>T
SKCM-US102714968427149684single base substitutionAGmissense_variantY37H109T>C
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN299N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN364N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN393N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN416N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN421N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN422N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN445N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN446N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN450N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN451N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN452N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN466N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN478N
STAD-US102703759027037592deletion of <=200bpTTC-disruptive_inframe_deletionKN479N
STAD-US102704062627040626single base substitutionGAmissense_variantP239S715C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP304S910C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP333S997C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP356S1066C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP361S1081C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP362S1084C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP385S1153C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP386S1156C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP390S1168C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP391S1171C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP392S1174C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP406S1216C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP418S1252C>T
STAD-US102704062627040626single base substitutionGAmissense_variantP419S1255C>T
STAD-US102705787927057879single base substitutionTCsynonymous_variantP143P429A>G
STAD-US102705787927057879single base substitutionTCsynonymous_variantP202P606A>G
STAD-US102705787927057879single base substitutionTCsynonymous_variantP207P621A>G
STAD-US102705787927057879single base substitutionTCsynonymous_variantP208P624A>G
STAD-US102705787927057879single base substitutionTCsynonymous_variantP224P672A>G
STAD-US102706613927066139single base substitutionCTexon_variant
STAD-US102706613927066139single base substitutionCTintron_variant
STAD-US102706613927066139single base substitutionCTmissense_variantR106Q317G>A
STAD-US102706613927066139single base substitutionCTmissense_variantR123Q368G>A
STAD-US102706614027066140single base substitutionGAexon_variant
STAD-US102706614027066140single base substitutionGAintron_variant
STAD-US102706614027066140single base substitutionGAstop_gainedR106*316C>T
STAD-US102706614027066140single base substitutionGAstop_gainedR123*367C>T
STAD-US102714976027149760single base substitutionCTsynonymous_variantE11E33G>A
THCA-US102703536127035361single base substitutionCAdownstream_gene_variant
UCEC-US102703526727035267single base substitutionTAdownstream_gene_variant
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT279T837A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT344T1032A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT373T1119A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT396T1188A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT401T1203A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT402T1206A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT425T1275A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT426T1278A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT430T1290A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT431T1293A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT432T1296A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT446T1338A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT458T1374A>G
UCEC-US102703765227037652single base substitutionTCsynonymous_variantT459T1377A>G
UCEC-US102703766927037669single base substitutionCTmissense_variantA274T820G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA339T1015G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA368T1102G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA391T1171G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA396T1186G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA397T1189G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA420T1258G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA421T1261G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA425T1273G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA426T1276G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA427T1279G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA441T1321G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA453T1357G>A
UCEC-US102703766927037669single base substitutionCTmissense_variantA454T1360G>A
UCEC-US102704054327040543single base substitutionCAmissense_variantK266N798G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK331N993G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK360N1080G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK383N1149G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK388N1164G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK389N1167G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK412N1236G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK413N1239G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK417N1251G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK418N1254G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK419N1257G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK433N1299G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK445N1335G>T
UCEC-US102704054327040543single base substitutionCAmissense_variantK446N1338G>T
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP219P657A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP284P852A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP313P939A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP336P1008A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP341P1023A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP342P1026A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP365P1095A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP366P1098A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP370P1110A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP371P1113A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP372P1116A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP386P1158A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP398P1194A>G
UCEC-US102704068427040684single base substitutionTCsynonymous_variantP399P1197A>G
UCEC-US102706612627066126single base substitutionAGexon_variant
UCEC-US102706612627066126single base substitutionAGintron_variant
UCEC-US102706612627066126single base substitutionAGsynonymous_variantG110G330T>C
UCEC-US102706612627066126single base substitutionAGsynonymous_variantG127G381T>C
UCEC-US102711218727112187single base substitutionGTexon_variant
UCEC-US102711218727112187single base substitutionGTsynonymous_variantT55T165C>A
UCEC-US102711218727112187single base substitutionGTsynonymous_variantT72T216C>A
UCEC-US102714970027149700single base substitutionGAsynonymous_variantD31D93C>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-FD-A3SN-01COSM3790701c.914C>Tp.S305LSubstitution - Missense10:26759226-26759226-
TCGA-CK-5916-01COSM3686691c.909G>Ap.P303PSubstitution - coding silent10:26759231-26759231-
CSCC-44-TCOSM4504639c.619C>Tp.P207SSubstitution - Missense10:26768952-26768952-
CSCC-7-TCOSM4462158c.1235C>Tp.P412LSubstitution - Missense10:26751714-26751714-
T2932COSM4658528c.516G>Ap.S172SSubstitution - coding silent10:26770307-26770307-
TCGA-D1-A16X-01COSM917354c.1335G>Tp.K445NSubstitution - Missense10:26751614-26751614-
PD9539aCOSM5789459c.898A>Cp.I300LSubstitution - Missense10:26763883-26763883-
TCGA-22-5477-01COSM683540c.1187C>Tp.P396LSubstitution - Missense10:26751762-26751762-
TCGA-21-5782-01COSM683536c.254G>Ap.R85KSubstitution - Missense10:26823169-26823169-
TCGA-AX-A05Z-01COSM917354c.1335G>Tp.K445NSubstitution - Missense10:26751614-26751614-
TCGA-FP-7829-01COSM4013525c.621A>Gp.P207PSubstitution - coding silent10:26768950-26768950-
TCGA-D7-6524-01COSM4013524c.1252C>Tp.P418SSubstitution - Missense10:26751697-26751697-
TCGA-AN-A046-01COSM3806972c.980C>Tp.S327LSubstitution - Missense10:26759160-26759160-
TCGA-BS-A0U7-01COSM917352c.1374A>Gp.T458TSubstitution - coding silent10:26748723-26748723-
TCGA-BR-8680-01COSM2134198c.317G>Ap.R106QSubstitution - Missense10:26777210-26777210-
pfg121TCOSM4751591c.919C>Ap.P307TSubstitution - Missense10:26759221-26759221-
TCGA-GV-A3QI-01COSM1297190c.845C>Ap.S282YSubstitution - Missense10:26763936-26763936-
TCGA-BH-A0H9-01COSM427420c.1240C>Tp.P414SSubstitution - Missense10:26751709-26751709-
TCGA-B5-A0JY-01COSM917354c.1335G>Tp.K445NSubstitution - Missense10:26751614-26751614-
TCGA-B5-A11E-01COSM917359c.93C>Tp.D31DSubstitution - coding silent10:26860771-26860771-
TCGA-HM-A3JK-01COSM4854944c.192A>Gp.Q64QSubstitution - coding silent10:26823231-26823231-
S06-38853-TPCOSM4989945c.398C>Tp.P133LSubstitution - Missense10:26777129-26777129-
TCGA-E2-A14N-01COSM427421c.895G>Tp.V299LSubstitution - Missense10:26763886-26763886-
TCGA-AX-A060-01COSM917358c.165C>Ap.T55TSubstitution - coding silent10:26823258-26823258-
ME011TCOSM224366c.719+1G>Ap.?Unknown10:26768851-26768851-
HN_62814COSM120825c.1297G>Ap.D433NSubstitution - Missense10:26751652-26751652-
GC_297_T-GC_297_NCOSM3730761c.720-9delTp.?Unknown10:26765327-26765327-
GC1_TCOSM3748501c.1480C>Ap.L494MSubstitution - Missense10:26748617-26748617-
T613COSM3686691c.909G>Ap.P303PSubstitution - coding silent10:26759231-26759231-
SNU-C2BCOSM4176818c.1490G>Tp.G497VSubstitution - Missense10:26748607-26748607-
SS6003312COSM3716692c.1118C>Tp.T373ISubstitution - Missense10:26755702-26755702-
TCGA-D1-A17Q-01COSM917354c.1335G>Tp.K445NSubstitution - Missense10:26751614-26751614-
TCGA-B5-A0JY-01COSM917353c.1357G>Ap.A453TSubstitution - Missense10:26748740-26748740-
SH-4435COSM1721131c.1252_1254delCCAp.P418delPDeletion - In frame10:26751695-26751697-
T84COSM2134193c.457G>Tp.V153FSubstitution - Missense10:26777070-26777070-
TCGA-EE-A29H-06COSM3436894c.419C>Tp.P140LSubstitution - Missense10:26777108-26777108-
TCGA-AA-3837-01COSM295113c.1461C>Tp.V487VSubstitution - coding silent10:26748636-26748636-
2250221COSM5029424c.336G>Cp.L112FSubstitution - Missense10:26777191-26777191-
S00936COSM308788c.395G>Ap.R132HSubstitution - Missense10:26777132-26777132-
PT25COSM5904918c.569G>Ap.G190ESubstitution - Missense10:26770254-26770254-
KPOPBR-46-TCOSM5964704c.1054G>Ap.G352SSubstitution - Missense10:26759086-26759086-
TCGA-AX-A0J0-01COSM917355c.1194A>Gp.P398PSubstitution - coding silent10:26751755-26751755-
TCGA-IR-A3LH-01COSM4832966c.830C>Gp.S277CSubstitution - Missense10:26763951-26763951-
TCGA-AA-A03J-01COSM301158c.209A>Gp.N70SSubstitution - Missense10:26823214-26823214-
TCGA-D9-A6EC-06COSM4401564c.547A>Gp.S183GSubstitution - Missense10:26770276-26770276-
SC_9100COSM5556407c.670C>Tp.H224YSubstitution - Missense10:26768901-26768901-
TCGA-HU-A4GY-01COSM4013527c.33G>Ap.E11ESubstitution - coding silent10:26860831-26860831-
1_RESISTANTCOSM1721131c.1252_1254delCCAp.P418delPDeletion - In frame10:26751695-26751697-
TCGA-BR-4362-01COSM4013526c.316C>Tp.R106*Substitution - Nonsense10:26777211-26777211-
TCGA-EE-A2MU-06COSM3436895c.109T>Cp.Y37HSubstitution - Missense10:26860755-26860755-
YUKATCOSM4013524c.1252C>Tp.P418SSubstitution - Missense10:26751697-26751697-
TCGA-51-4080-01COSM683539c.478C>Tp.H160YSubstitution - Missense10:26770345-26770345-
TCGA-DK-A1A7-01COSM415061c.121A>Gp.T41ASubstitution - Missense10:26823302-26823302-
TCGA-CJ-4903-01COSM465561c.802C>Ap.P268TSubstitution - Missense10:26765236-26765236-
TCGA-FS-A1Z0-06COSM3436893c.830C>Tp.S277FSubstitution - Missense10:26763951-26763951-
TCGA-GF-A6C8-06COSM3867071c.530C>Tp.P177LSubstitution - Missense10:26770293-26770293-
PD11342aCOSM5801234c.1393_1404del12p.L465_M468delLSFMDeletion - In frame10:26748693-26748704-
39COSM5733796c.854C>Tp.P285LSubstitution - Missense10:26763927-26763927-
S02-14875-TPCOSM4989944c.897G>Ap.V299VSubstitution - coding silent10:26763884-26763884-
LS411COSM2134169c.1163delAp.N388fs*41Deletion - Frameshift10:26755657-26755657-
TCGA-EE-A2ML-06COSM3436892c.847G>Ap.G283RSubstitution - Missense10:26763934-26763934-
TCGA-CZ-5470-01COSM465562c.392A>Gp.E131GSubstitution - Missense10:26777135-26777135-
Pat_40_ACOSM5836720c.1468C>Tp.R490*Substitution - Nonsense10:26748629-26748629-
TCGA-CA-6717-01COSM917354c.1335G>Tp.K445NSubstitution - Missense10:26751614-26751614-
TCGA-AP-A056-01COSM917357c.330T>Cp.G110GSubstitution - coding silent10:26777197-26777197-
QC2-05-T2COSM5651943c.584A>Gp.N195SSubstitution - Missense10:26768987-26768987-
PTC-10CCOSM4144612c.38C>Ap.P13QSubstitution - Missense10:26860826-26860826-
TCGA-BT-A2LB-01COSM3790702c.95A>Gp.Y32CSubstitution - Missense10:26860769-26860769-
TCGA-51-4080-01COSM683537c.478-1G>Tp.?Unknown10:26770346-26770346-
sysucc-1062TCOSM5763347c.579-10G>Ap.?Unknown10:26769002-26769002-
BD143TCOSM170260c.958C>Tp.R320*Substitution - Nonsense10:26759182-26759182-
587400COSM1181420c.412C>Tp.R138WSubstitution - Missense10:26777115-26777115-
TCGA-09-1673-01COSM1321400c.1096C>Tp.P366SSubstitution - Missense10:26755724-26755724-
234COSM3730761c.720-9delTp.?Unknown10:26765327-26765327-
YUKATCOSM5370499c.919C>Tp.P307SSubstitution - Missense10:26759221-26759221-
SNU-C4COSM4651779c.74A>Gp.N25SSubstitution - Missense10:26860790-26860790-
Pat_06_ACOSM5836721c.338C>Gp.T113RSubstitution - Missense10:26777189-26777189-
LUAD-NYU1026COSM368280c.390G>Cp.M130ISubstitution - Missense10:26777137-26777137-
TCGA-D1-A17D-01COSM917356c.371T>Cp.I124TSubstitution - Missense10:26777156-26777156-
Pat_26_BCOSM1721131c.1252_1254delCCAp.P418delPDeletion - In frame10:26751695-26751697-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.508115;Hs.508117;Hs.508131;Hs.508145;Hs.50814810p11.2603050
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACIntronicSNV.c.118-13326T>G1027125560CLL
AG3-UTRSNV.c.1524+1248T>C1027036254HC
AGMissensep.Y37Hc.109T>C1027149684CM
A-IntronicDeletion.c.463-13delT1027060031STAD
CAMissensep.R194Lc.581G>T1027057919CM
CAMissensep.V299Lc.895G>T1027052815BRCA
CASpliceAcceptorSNV.c.478-1G>T1027059275LUSC
CT5-UTRSNV.c.1-18G>A1027149810STAD
CTIntronicSNV.c.117+2944G>A1027146732CLL
CTMissensep.D433Nc.1297G>A1027040581HNSC
CTMissensep.G283Rc.847G>A1027052863CM
CTMissensep.G332Ec.995G>A1027048074CM
CTMissensep.R132Hc.395G>A1027066061SCLC
CTMissensep.R173Kc.518G>A1027059234HNSC
CTMissensep.R85Kc.254G>A1027112098LUSC
CTSpliceAcceptorSNV.c.118-1G>A1027112235LUAD
GAMissensep.H160Yc.478C>T1027059274LUSC
GAMissensep.P140Lc.419C>T1027066037CM
GAMissensep.P203Lc.608C>T1027057892CM
GAMissensep.P396Lc.1187C>T1027040691LUSC
GAMissensep.P414Sc.1240C>T1027040638BRCA
GAMissensep.P418Sc.1252C>T1027040626STAD
GAMissensep.S277Fc.830C>T1027052880CM
GAMissensep.S305Lc.914C>T1027048155HNSC
GAMissensep.S309Fc.926C>T1027048143HNSC
GASynonymousp.V487Vc.1461C>T1027037565COREAD
GTMissensep.P268Tc.802C>A1027054165RCCC
GTMissensep.S282Yc.845C>A1027052865BLCA
GTSynonymousp.I141Ic.423C>A1027066033CM
GTSynonymousp.T55Tc.165C>A1027112187UCEC
TAIntronicSNV.c.463-1938A>T1027061956CLL
TASynonymousp.P353Pc.1059A>T1027048010LUAD
TCIntronicSNV.c.463-1984A>G1027062002CLL
TCMissensep.N70Sc.209A>G1027112143COREAD
TCMissensep.T41Ac.121A>G1027112231BLCA
TCMissensep.Y32Cc.95A>G1027149698BLCA
TCSynonymousp.T458Tc.1374A>G1027037652UCEC