UBA2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC193494121434941214+SilentSNPAAGTCGA-PK-A5HB-01A-11D-A29I-10TCGA-PK-A5HB-11A-11D-A29L-10g.chr19:34941214A>Gc.816A>Gc.(814-816)ctA>ctGp.L272L
BLCA193491942134919421+SilentSNPCCTTCGA-G2-A2ES-01A-11D-A17V-08TCGA-G2-A2ES-11A-31D-A17V-08g.chr19:34919421C>Tc.84C>Tc.(82-84)atC>atTp.I28I
BLCA193494288434942884+Splice_SiteSNPAACTCGA-XF-A9SY-01A-21D-A42E-08TCGA-XF-A9SY-10A-01D-A42H-08g.chr19:34942884A>Cc.e10-1
BLCA193494293534942935+SilentSNPGGATCGA-XF-AAN4-01A-11D-A42E-08TCGA-XF-AAN4-10A-01D-A42H-08g.chr19:34942935G>Ac.921G>Ac.(919-921)ctG>ctAp.L307L
BLCA193494972734949727+SilentSNPAAGTCGA-GU-A42R-01A-11D-A23M-08TCGA-GU-A42R-10A-01D-A23K-08g.chr19:34949727A>Gc.1299A>Gc.(1297-1299)gcA>gcGp.A433A
BLCA193496002234960022+Missense_MutationSNPGGCTCGA-GD-A6C6-01A-21D-A31L-08TCGA-GD-A6C6-10A-01D-A31J-08g.chr19:34960022G>Cc.1819G>Cc.(1819-1821)Gag>Cagp.E607Q
BRCA193492961634929616+Missense_MutationSNPCCTTCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr19:34929616C>Tc.526C>Tc.(526-528)Cgt>Tgtp.R176C
BRCA193494119434941194+Missense_MutationSNPCCATCGA-D8-A1J8-01A-11D-A13L-09TCGA-D8-A1J8-10A-01D-A13O-09g.chr19:34941194C>Ac.796C>Ac.(796-798)Ctg>Atgp.L266M
BRCA193496001234960012+SilentSNPCCTTCGA-A2-A0EV-01A-11W-A050-09TCGA-A2-A0EV-10A-01W-A055-09g.chr19:34960012C>Tc.1809C>Tc.(1807-1809)gtC>gtTp.V603V
CESC193493600734936007+Missense_MutationSNPCCTTCGA-EK-A2RB-01A-11D-A18J-09TCGA-EK-A2RB-10A-01D-A18J-09g.chr19:34936007C>Tc.752C>Tc.(751-753)cCa>cTap.P251L
CESC193495499334954993+Missense_MutationSNPGGATCGA-HM-A4S6-01A-11D-A26G-09TCGA-HM-A4S6-10A-01D-A26G-09g.chr19:34954993G>Ac.1561G>Ac.(1561-1563)Gac>Aacp.D521N
COAD193492577934925779+Missense_MutationSNPGGATCGA-A6-3809-01A-01W-0995-10TCGA-A6-3809-11A-01W-0995-10g.chr19:34925779G>Ac.365G>Ac.(364-366)cGa>cAap.R122Q
COAD193493592234935922+Missense_MutationSNPGGATCGA-AA-3710-01A-01W-0995-10TCGA-AA-3710-10A-01W-0995-10g.chr19:34935922G>Ac.667G>Ac.(667-669)Gaa>Aaap.E223K
COAD193494289634942896+SilentSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr19:34942896G>Ac.882G>Ac.(880-882)acG>acAp.T294T
COAD193494523934945239+Missense_MutationSNPGGTTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr19:34945239G>Tc.1113G>Tc.(1111-1113)aaG>aaTp.K371N
COAD193495780034957800+Missense_MutationSNPAATTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr19:34957800A>Tc.1622A>Tc.(1621-1623)gAc>gTcp.D541V
COAD193495783034957830+Missense_MutationSNPCCTTCGA-DM-A1D4-01A-21D-A152-10TCGA-DM-A1D4-10A-01D-A152-10g.chr19:34957830C>Tc.1652C>Tc.(1651-1653)cCg>cTgp.P551L
COAD193496003234960032+Missense_MutationSNPGGATCGA-AA-3685-01A-02W-0900-09TCGA-AA-3685-10A-01W-0900-09g.chr19:34960032G>Ac.1829G>Ac.(1828-1830)cGc>cAcp.R610H
COADREAD193492577934925779+Missense_MutationSNPGGATCGA-A6-3809-01A-01W-0995-10TCGA-A6-3809-11A-01W-0995-10g.chr19:34925779G>Ac.365G>Ac.(364-366)cGa>cAap.R122Q
COADREAD193493480434934804+Missense_MutationSNPCCTTCGA-AH-6643-01A-11D-1826-10TCGA-AH-6643-11A-01D-1826-10g.chr19:34934804C>Tc.637C>Tc.(637-639)Cct>Tctp.P213S
COADREAD193493592234935922+Missense_MutationSNPGGATCGA-AA-3710-01A-01W-0995-10TCGA-AA-3710-10A-01W-0995-10g.chr19:34935922G>Ac.667G>Ac.(667-669)Gaa>Aaap.E223K
COADREAD193494289634942896+SilentSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr19:34942896G>Ac.882G>Ac.(880-882)acG>acAp.T294T
COADREAD193494523934945239+Missense_MutationSNPGGTTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr19:34945239G>Tc.1113G>Tc.(1111-1113)aaG>aaTp.K371N
COADREAD193495780034957800+Missense_MutationSNPAATTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr19:34957800A>Tc.1622A>Tc.(1621-1623)gAc>gTcp.D541V
COADREAD193495783034957830+Missense_MutationSNPCCTTCGA-DM-A1D4-01A-21D-A152-10TCGA-DM-A1D4-10A-01D-A152-10g.chr19:34957830C>Tc.1652C>Tc.(1651-1653)cCg>cTgp.P551L
COADREAD193496003234960032+Missense_MutationSNPGGATCGA-AA-3685-01A-02W-0900-09TCGA-AA-3685-10A-01W-0900-09g.chr19:34960032G>Ac.1829G>Ac.(1828-1830)cGc>cAcp.R610H
GBMLGG193492958534929585+SilentSNPGGATCGA-HT-7603-01A-21D-2086-08TCGA-HT-7603-10A-01D-2086-08g.chr19:34929585G>Ac.495G>Ac.(493-495)ccG>ccAp.P165P
GBMLGG193493596534935965+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr19:34935965G>Ac.710G>Ac.(709-711)cGt>cAtp.R237H
GBMLGG193493602634936026+Splice_SiteSNPGGTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr19:34936026G>Tc.771G>Tc.(769-771)aaG>aaTp.K257N
GBMLGG193495791334957913+Missense_MutationSNPTTATCGA-S9-A7QZ-01A-12D-A34J-08TCGA-S9-A7QZ-10A-01D-A34M-08g.chr19:34957913T>Ac.1735T>Ac.(1735-1737)Tcc>Accp.S579T
HNSC193492955934929559+Missense_MutationSNPGGATCGA-CN-A6V1-01A-12D-A34J-08TCGA-CN-A6V1-10B-01D-A34M-08g.chr19:34929559G>Ac.469G>Ac.(469-471)Gag>Aagp.E157K
KIPAN193492148434921484+Missense_MutationSNPGGCTCGA-B9-4117-01A-01D-1252-08TCGA-B9-4117-10A-01D-1252-08g.chr19:34921484G>Cc.142G>Cc.(142-144)Gat>Catp.D48H
KIPAN193492427934924279+Missense_MutationSNPGGATCGA-B1-5398-01A-02D-1589-08TCGA-B1-5398-10A-01D-1589-08g.chr19:34924279G>Ac.320G>Ac.(319-321)cGa>cAap.R107Q
KIPAN193493599534935995+Missense_MutationSNPCCATCGA-B0-4817-01A-01D-1361-10TCGA-B0-4817-11A-01D-1361-10g.chr19:34935995C>Ac.740C>Ac.(739-741)aCt>aAtp.T247N
KIPAN193495998134959981+Missense_MutationSNPAACTCGA-B0-4945-01A-01D-1421-08TCGA-B0-4945-11A-01D-1421-08g.chr19:34959981A>Cc.1778A>Cc.(1777-1779)gAt>gCtp.D593A
KIRC193493599534935995+Missense_MutationSNPCCATCGA-B0-4817-01A-01D-1361-10TCGA-B0-4817-11A-01D-1361-10g.chr19:34935995C>Ac.740C>Ac.(739-741)aCt>aAtp.T247N
KIRC193495998134959981+Missense_MutationSNPAACTCGA-B0-4945-01A-01D-1421-08TCGA-B0-4945-11A-01D-1421-08g.chr19:34959981A>Cc.1778A>Cc.(1777-1779)gAt>gCtp.D593A
KIRP193492148434921484+Missense_MutationSNPGGCTCGA-B9-4117-01A-01D-1252-08TCGA-B9-4117-10A-01D-1252-08g.chr19:34921484G>Cc.142G>Cc.(142-144)Gat>Catp.D48H
KIRP193492427934924279+Missense_MutationSNPGGATCGA-B1-5398-01A-02D-1589-08TCGA-B1-5398-10A-01D-1589-08g.chr19:34924279G>Ac.320G>Ac.(319-321)cGa>cAap.R107Q
LGG193492958534929585+SilentSNPGGATCGA-HT-7603-01A-21D-2086-08TCGA-HT-7603-10A-01D-2086-08g.chr19:34929585G>Ac.495G>Ac.(493-495)ccG>ccAp.P165P
LGG193493596534935965+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr19:34935965G>Ac.710G>Ac.(709-711)cGt>cAtp.R237H
LGG193493602634936026+Splice_SiteSNPGGTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr19:34936026G>Tc.771G>Tc.(769-771)aaG>aaTp.K257N
LGG193495791334957913+Missense_MutationSNPTTATCGA-S9-A7QZ-01A-12D-A34J-08TCGA-S9-A7QZ-10A-01D-A34M-08g.chr19:34957913T>Ac.1735T>Ac.(1735-1737)Tcc>Accp.S579T
LIHC193492584334925843+SilentSNPGGATCGA-DD-AAVP-01A-11D-A40R-10TCGA-DD-AAVP-10A-01D-A40U-10g.chr19:34925843G>Ac.429G>Ac.(427-429)ggG>ggAp.G143G
LIHC193494967534949675+Splice_SiteDELTT-TCGA-4R-AA8I-01A-11D-A382-10TCGA-4R-AA8I-10B-01D-A385-10g.chr19:34949675delTc.1247delTc.(1246-1248)att>atp.I416fs
LUAD193492280534922805+Missense_MutationSNPAAGTCGA-17-Z057-01A-01W-0747-08TCGA-17-Z057-11A-01W-0747-08g.chr19:34922805A>Gc.262A>Gc.(262-264)Aat>Gatp.N88D
LUAD193492280834922808+Missense_MutationSNPAAGTCGA-05-4418-01A-01D-1265-08TCGA-05-4418-10A-01D-1265-08g.chr19:34922808A>Gc.265A>Gc.(265-267)Atc>Gtcp.I89V
LUAD193492586734925867+Missense_MutationSNPCCGTCGA-17-Z032-01A-01W-0746-08TCGA-17-Z032-11A-01W-0746-08g.chr19:34925867C>Gc.453C>Gc.(451-453)atC>atGp.I151M
LUAD193493600334936003+Missense_MutationSNPGGTTCGA-91-6840-01A-11D-1945-08TCGA-91-6840-10A-01D-1946-08g.chr19:34936003G>Tc.748G>Tc.(748-750)Gat>Tatp.D250Y
LUAD193494981334949813+Missense_MutationSNPTTCTCGA-62-A46O-01A-11D-A24D-08TCGA-62-A46O-10A-01D-A24F-08g.chr19:34949813T>Cc.1385T>Cc.(1384-1386)cTc>cCcp.L462P
LUAD193495138434951384+Nonsense_MutationSNPGGTTCGA-05-4382-01A-01D-1931-08TCGA-05-4382-10A-01D-1265-08g.chr19:34951384G>Tc.1411G>Tc.(1411-1413)Gaa>Taap.E471*
LUAD193495502834955028+Missense_MutationSNPCCGTCGA-91-6830-01A-11D-1945-08TCGA-91-6830-11A-01D-1945-08g.chr19:34955028C>Gc.1596C>Gc.(1594-1596)atC>atGp.I532M
LUAD193495791234957912+SilentSNPCCGTCGA-05-4382-01A-01D-1931-08TCGA-05-4382-10A-01D-1265-08g.chr19:34957912C>Gc.1734C>Gc.(1732-1734)acC>acGp.T578T
LUSC193494524434945244+Missense_MutationSNPGGCTCGA-60-2724-01A-01D-1522-08TCGA-60-2724-11A-01D-1522-08g.chr19:34945244G>Cc.1118G>Cc.(1117-1119)aGa>aCap.R373T
LUSC193494538434945384+Missense_MutationSNPAATTCGA-22-4604-01A-01D-1267-08TCGA-22-4604-11A-01D-1267-08g.chr19:34945384A>Tc.1168A>Tc.(1168-1170)Act>Tctp.T390S
OV193494967334949673+Splice_SiteSNPGGTTCGA-13-0807-01B-02W-0421-09TCGA-13-0807-10A-01W-0421-09g.chr19:34949673G>Tc.e13-1
PAAD193492146834921485+Splice_SiteDELTATGCATTTGTAGATTGATATGCATTTGTAGATTGA-TCGA-3A-A9I7-01A-21D-A38G-08TCGA-3A-A9I7-10A-01D-A38J-08g.chr19:34921468_34921485delTATGCATTTGTAGATTGAc.138_143delTATGCATTTGTAGATTGAc.(136-144)cttatgcat>cttp.MH47del
PAAD193492278134922781+Missense_MutationSNPGGATCGA-IB-AAUQ-01A-22D-A40W-08TCGA-IB-AAUQ-10A-01D-A40W-08g.chr19:34922781G>Ac.238G>Ac.(238-240)Gta>Atap.V80I
PAAD193492577234925772+Splice_SiteSNPGGTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:34925772G>Tc.e5-1
PAAD193495780034957800+Missense_MutationSNPAAGTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:34957800A>Gc.1622A>Gc.(1621-1623)gAc>gGcp.D541G
PRAD193491938634919386+Frame_Shift_DelDELGG-TCGA-V1-A9OX-01A-11D-A41K-08TCGA-V1-A9OX-10A-01D-A41N-08g.chr19:34919386delGc.49delGc.(49-51)gggfsp.G18fs
PRAD193493591634935916+Missense_MutationSNPGGATCGA-YL-A9WL-01A-11D-A41K-08TCGA-YL-A9WL-10A-01D-A41N-08g.chr19:34935916G>Ac.661G>Ac.(661-663)Gaa>Aaap.E221K
PRAD193494299534942995+SilentSNPGGATCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr19:34942995G>Ac.981G>Ac.(979-981)gaG>gaAp.E327E
READ193493480434934804+Missense_MutationSNPCCTTCGA-AH-6643-01A-11D-1826-10TCGA-AH-6643-11A-01D-1826-10g.chr19:34934804C>Tc.637C>Tc.(637-639)Cct>Tctp.P213S
SARC193494976634949766+Missense_MutationSNPCCGTCGA-DX-A3UE-01A-11D-A307-09TCGA-DX-A3UE-10A-01D-A307-09g.chr19:34949766C>Gc.1338C>Gc.(1336-1338)agC>agGp.S446R
SKCM193492155434921554+Nonsense_MutationSNPCCGTCGA-ER-A2NC-06A-11D-A197-08TCGA-ER-A2NC-10A-01D-A199-08g.chr19:34921554C>Gc.212C>Gc.(211-213)tCa>tGap.S71*
SKCM193492279734922797+Missense_MutationSNPCCATCGA-ER-A19P-06A-11D-A196-08TCGA-ER-A19P-10A-01D-A198-08g.chr19:34922797C>Ac.254C>Ac.(253-255)cCg>cAgp.P85Q
SKCM193492957834929578+Missense_MutationSNPCCTTCGA-EE-A2MU-06A-21D-A196-08TCGA-EE-A2MU-10A-01D-A198-08g.chr19:34929578C>Tc.488C>Tc.(487-489)cCt>cTtp.P163L
SKCM193492964834929648+SilentSNPCCTTCGA-EE-A3AA-06A-11D-A196-08TCGA-EE-A3AA-10A-01D-A198-08g.chr19:34929648C>Tc.558C>Tc.(556-558)atC>atTp.I186I
SKCM193494969234949692+Missense_MutationSNPCCTTCGA-EE-A2MS-06A-11D-A197-08TCGA-EE-A2MS-10A-01D-A199-08g.chr19:34949692C>Tc.1264C>Tc.(1264-1266)Cca>Tcap.P422S
SKCM193495999134959991+SilentSNPTTCTCGA-EE-A3AB-06A-11D-A196-08TCGA-EE-A3AB-10A-01D-A198-08g.chr19:34959991T>Cc.1788T>Cc.(1786-1788)gaT>gaCp.D596D
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US193491942134919421single base substitutionCTexon_variant
BLCA-US193491942134919421single base substitutionCTsynonymous_variantI28I84C>T
BLCA-US193491942134919421single base substitutionCTupstream_gene_variant
BLCA-US193494972734949727single base substitutionAG3_prime_UTR_variant
BLCA-US193494972734949727single base substitutionAG5_prime_UTR_variant
BLCA-US193494972734949727single base substitutionAGintron_variant
BLCA-US193494972734949727single base substitutionAGsynonymous_variantA337A1011A>G
BLCA-US193494972734949727single base substitutionAGsynonymous_variantA433A1299A>G
BRCA-EU193491636034916360single base substitutionGAupstream_gene_variant
BRCA-EU193491785634917856single base substitutionTGupstream_gene_variant
BRCA-EU193491804534918045single base substitutionCTupstream_gene_variant
BRCA-EU193491922634919226single base substitutionCGupstream_gene_variant
BRCA-EU193491922934919229single base substitutionAGupstream_gene_variant
BRCA-EU193491969234919692single base substitutionGAintron_variant
BRCA-EU193491969234919692single base substitutionGAupstream_gene_variant
BRCA-EU193491979734919797single base substitutionTA5_prime_UTR_variant
BRCA-EU193491979734919797single base substitutionTAintron_variant
BRCA-EU193491979734919797single base substitutionTAupstream_gene_variant
BRCA-EU193491980434919804single base substitutionAG5_prime_UTR_variant
BRCA-EU193491980434919804single base substitutionAGintron_variant
BRCA-EU193491980434919804single base substitutionAGupstream_gene_variant
BRCA-EU193492172934921729single base substitutionGTintron_variant
BRCA-EU193492172934921729single base substitutionGTupstream_gene_variant
BRCA-EU193492225634922256single base substitutionCGintron_variant
BRCA-EU193492225634922256single base substitutionCGupstream_gene_variant
BRCA-EU193492575334925753single base substitutionAGdownstream_gene_variant
BRCA-EU193492575334925753single base substitutionAGintron_variant
BRCA-EU193492694334926943single base substitutionTAdownstream_gene_variant
BRCA-EU193492694334926943single base substitutionTAintron_variant
BRCA-EU193492948334929483single base substitutionAGintron_variant
BRCA-EU193492955734929557single base substitutionCA3_prime_UTR_variant
BRCA-EU193492955734929557single base substitutionCAexon_variant
BRCA-EU193492955734929557single base substitutionCAmissense_variantT128N383C>A
BRCA-EU193492955734929557single base substitutionCAmissense_variantT156N467C>A
BRCA-EU193492955734929557single base substitutionCAmissense_variantT60N179C>A
BRCA-EU193493105734931057single base substitutionCTdownstream_gene_variant
BRCA-EU193493105734931057single base substitutionCTintron_variant
BRCA-EU193493128334931283single base substitutionATdownstream_gene_variant
BRCA-EU193493128334931283single base substitutionATintron_variant
BRCA-EU193493182634931826single base substitutionAGdownstream_gene_variant
BRCA-EU193493182634931826single base substitutionAGintron_variant
BRCA-EU193493258334932583single base substitutionTAdownstream_gene_variant
BRCA-EU193493258334932583single base substitutionTAintron_variant
BRCA-EU193493289034932890single base substitutionGAdownstream_gene_variant
BRCA-EU193493289034932890single base substitutionGAintron_variant
BRCA-EU193493338134933381single base substitutionGAdownstream_gene_variant
BRCA-EU193493338134933381single base substitutionGAintron_variant
BRCA-EU193493455534934555single base substitutionCAdownstream_gene_variant
BRCA-EU193493455534934555single base substitutionCAintron_variant
BRCA-EU193493592634935926single base substitutionCG3_prime_UTR_variant
BRCA-EU193493592634935926single base substitutionCGmissense_variantA128G383C>G
BRCA-EU193493592634935926single base substitutionCGmissense_variantA196G587C>G
BRCA-EU193493592634935926single base substitutionCGmissense_variantA224G671C>G
BRCA-EU193493687034936870insertion of <=200bp-Tintron_variant
BRCA-EU193493687034936870insertion of <=200bp-Tupstream_gene_variant
BRCA-EU193493688734936887single base substitutionGCintron_variant
BRCA-EU193493688734936887single base substitutionGCupstream_gene_variant
BRCA-EU193493689734936897single base substitutionCGintron_variant
BRCA-EU193493689734936897single base substitutionCGupstream_gene_variant
BRCA-EU193493746434937464single base substitutionGAintron_variant
BRCA-EU193493746434937464single base substitutionGAupstream_gene_variant
BRCA-EU193493758334937583single base substitutionCGintron_variant
BRCA-EU193493758334937583single base substitutionCGupstream_gene_variant
BRCA-EU193493762134937621single base substitutionCTintron_variant
BRCA-EU193493762134937621single base substitutionCTupstream_gene_variant
BRCA-EU193493841434938414single base substitutionGCintron_variant
BRCA-EU193493841434938414single base substitutionGCupstream_gene_variant
BRCA-EU193493890434938904single base substitutionGTintron_variant
BRCA-EU193493890434938904single base substitutionGTupstream_gene_variant
BRCA-EU193493893434938934single base substitutionCTintron_variant
BRCA-EU193493893434938934single base substitutionCTupstream_gene_variant
BRCA-EU193493948334939483single base substitutionCGintron_variant
BRCA-EU193493948334939483single base substitutionCGupstream_gene_variant
BRCA-EU193494016034940160single base substitutionAGintron_variant
BRCA-EU193494016034940160single base substitutionAGupstream_gene_variant
BRCA-EU193494020034940200single base substitutionCGintron_variant
BRCA-EU193494020034940200single base substitutionCGupstream_gene_variant
BRCA-EU193494053634940536single base substitutionCGintron_variant
BRCA-EU193494053634940536single base substitutionCGupstream_gene_variant
BRCA-EU193494106534941065single base substitutionCGintron_variant
BRCA-EU193494106534941065single base substitutionCGupstream_gene_variant
BRCA-EU193494318034943180single base substitutionGCdownstream_gene_variant
BRCA-EU193494318034943180single base substitutionGCintron_variant
BRCA-EU193494400134944001single base substitutionGCdownstream_gene_variant
BRCA-EU193494400134944001single base substitutionGCintron_variant
BRCA-EU193494659034946590single base substitutionCAintron_variant
BRCA-EU193494659034946590single base substitutionCAupstream_gene_variant
BRCA-EU193494665934946659single base substitutionCAintron_variant
BRCA-EU193494665934946659single base substitutionCAupstream_gene_variant
BRCA-EU193494744734947447single base substitutionTGintron_variant
BRCA-EU193494744734947447single base substitutionTGupstream_gene_variant
BRCA-EU193494764734947647single base substitutionGCintron_variant
BRCA-EU193494764734947647single base substitutionGCupstream_gene_variant
BRCA-EU193494774534947745single base substitutionGAintron_variant
BRCA-EU193494774534947745single base substitutionGAupstream_gene_variant
BRCA-EU193494822034948220single base substitutionCTintron_variant
BRCA-EU193494822034948220single base substitutionCTupstream_gene_variant
BRCA-EU193494875134948751single base substitutionCAintron_variant
BRCA-EU193494875134948751single base substitutionCAupstream_gene_variant
BRCA-EU193494885234948852deletion of <=200bpT-intron_variant
BRCA-EU193494885234948852deletion of <=200bpT-upstream_gene_variant
BRCA-EU193494957634949576single base substitutionCGintron_variant
BRCA-EU193494957634949576single base substitutionCGupstream_gene_variant
BRCA-EU193494967534949675deletion of <=200bpT-5_prime_UTR_variant
BRCA-EU193494967534949675deletion of <=200bpT-frameshift_variantI320
BRCA-EU193494967534949675deletion of <=200bpT-frameshift_variantI416
BRCA-EU193494967534949675deletion of <=200bpT-intron_variant
BRCA-EU193494967534949675deletion of <=200bpT-splice_region_variant
BRCA-EU193495018734950187single base substitutionGAintron_variant
BRCA-EU193495070334950703single base substitutionACintron_variant
BRCA-EU193495201134952011single base substitutionCAintron_variant
BRCA-EU193495207034952070single base substitutionCGintron_variant
BRCA-EU193495220234952202single base substitutionCTintron_variant
BRCA-EU193495221734952217single base substitutionCTintron_variant
BRCA-EU193495239234952392single base substitutionCTintron_variant
BRCA-EU193495288834952888single base substitutionAGintron_variant
BRCA-EU193495354134953541deletion of <=200bpA-intron_variant
BRCA-EU193495354134953541deletion of <=200bpA-upstream_gene_variant
BRCA-EU193495405734954057single base substitutionCTintron_variant
BRCA-EU193495405734954057single base substitutionCTupstream_gene_variant
BRCA-EU193495414234954142insertion of <=200bp-Aintron_variant
BRCA-EU193495414234954142insertion of <=200bp-Aupstream_gene_variant
BRCA-EU193495515534955155single base substitutionAGdownstream_gene_variant
BRCA-EU193495515534955155single base substitutionAGintron_variant
BRCA-EU193495515534955155single base substitutionAGupstream_gene_variant
BRCA-EU193495594434955944deletion of <=200bpA-downstream_gene_variant
BRCA-EU193495594434955944deletion of <=200bpA-intron_variant
BRCA-EU193495594434955944deletion of <=200bpA-upstream_gene_variant
BRCA-EU193495776834957768single base substitutionGAdownstream_gene_variant
BRCA-EU193495776834957768single base substitutionGAintron_variant
BRCA-EU193495776834957768single base substitutionGAupstream_gene_variant
BRCA-EU193495831434958314single base substitutionAGdownstream_gene_variant
BRCA-EU193495831434958314single base substitutionAGintron_variant
BRCA-EU193495899834959001deletion of <=200bpTGAT-downstream_gene_variant
BRCA-EU193495899834959001deletion of <=200bpTGAT-intron_variant
BRCA-EU193495900034959000single base substitutionACdownstream_gene_variant
BRCA-EU193495900034959000single base substitutionACintron_variant
BRCA-EU193496018334960183single base substitutionGC3_prime_UTR_variant
BRCA-EU193496018334960183single base substitutionGCdownstream_gene_variant
BRCA-EU193496049834960498single base substitutionGA3_prime_UTR_variant
BRCA-EU193496049834960498single base substitutionGAdownstream_gene_variant
BRCA-EU193496056034960560single base substitutionGC3_prime_UTR_variant
BRCA-EU193496056034960560single base substitutionGCdownstream_gene_variant
BRCA-EU193496142934961429single base substitutionGCdownstream_gene_variant
BRCA-EU193496152934961529single base substitutionGCdownstream_gene_variant
BRCA-EU193496181934961819single base substitutionGCdownstream_gene_variant
BRCA-EU193496495334964953single base substitutionGAdownstream_gene_variant
BRCA-EU193496524134965241single base substitutionCAdownstream_gene_variant
BRCA-EU193496526434965264single base substitutionGTdownstream_gene_variant
BRCA-EU193496560634965606deletion of <=200bpC-downstream_gene_variant
BRCA-FR193491785634917856single base substitutionTGupstream_gene_variant
BRCA-FR193493096834930968single base substitutionCAdownstream_gene_variant
BRCA-FR193493096834930968single base substitutionCAintron_variant
BRCA-FR193495289534952895single base substitutionGCintron_variant
BRCA-FR193496015034960150single base substitutionCT3_prime_UTR_variant
BRCA-FR193496015034960150single base substitutionCTdownstream_gene_variant
BRCA-FR193496454734964547single base substitutionGAdownstream_gene_variant
BRCA-UK193495142034951420single base substitutionGA3_prime_UTR_variant
BRCA-UK193495142034951420single base substitutionGAmissense_variantE167K499G>A
BRCA-UK193495142034951420single base substitutionGAmissense_variantE387K1159G>A
BRCA-UK193495142034951420single base substitutionGAmissense_variantE483K1447G>A
BRCA-UK193495142034951420single base substitutionGAmissense_variantE9K25G>A
BRCA-US193491697534916975single base substitutionGAupstream_gene_variant
BRCA-US193492961634929616single base substitutionCT3_prime_UTR_variant
BRCA-US193492961634929616single base substitutionCTexon_variant
BRCA-US193492961634929616single base substitutionCTmissense_variantR148C442C>T
BRCA-US193492961634929616single base substitutionCTmissense_variantR176C526C>T
BRCA-US193492961634929616single base substitutionCTmissense_variantR80C238C>T
BRCA-US193494119434941194single base substitutionCA3_prime_UTR_variant
BRCA-US193494119434941194single base substitutionCAmissense_variantL170M508C>A
BRCA-US193494119434941194single base substitutionCAmissense_variantL238M712C>A
BRCA-US193494119434941194single base substitutionCAmissense_variantL266M796C>A
BRCA-US193494119434941194single base substitutionCAmissense_variantL2M4C>A
BRCA-US193496001234960012single base substitutionCTdownstream_gene_variant
BRCA-US193496001234960012single base substitutionCTexon_variant
BRCA-US193496001234960012single base substitutionCTsynonymous_variantV129V387C>T
BRCA-US193496001234960012single base substitutionCTsynonymous_variantV507V1521C>T
BRCA-US193496001234960012single base substitutionCTsynonymous_variantV603V1809C>T
BTCA-JP193491962634919626insertion of <=200bp-Cintron_variant
BTCA-JP193491962634919626insertion of <=200bp-Cupstream_gene_variant
BTCA-JP193492286634922866insertion of <=200bp-GTATAAAexon_variant
BTCA-JP193492286634922866insertion of <=200bp-GTATAAAintron_variant
BTCA-JP193492286634922866insertion of <=200bp-GTATAAAupstream_gene_variant
BTCA-JP193492291934922919deletion of <=200bpA-exon_variant
BTCA-JP193492291934922919deletion of <=200bpA-intron_variant
BTCA-JP193492291934922919deletion of <=200bpA-upstream_gene_variant
BTCA-JP193494989434949894single base substitutionCTintron_variant
CESC-US193491692134916921single base substitutionCGupstream_gene_variant
CESC-US193493600734936007single base substitutionCT3_prime_UTR_variant
CESC-US193493600734936007single base substitutionCTmissense_variantP155L464C>T
CESC-US193493600734936007single base substitutionCTmissense_variantP223L668C>T
CESC-US193493600734936007single base substitutionCTmissense_variantP251L752C>T
CESC-US193495499334954993single base substitutionGA3_prime_UTR_variant
CESC-US193495499334954993single base substitutionGAmissense_variantD205N613G>A
CESC-US193495499334954993single base substitutionGAmissense_variantD425N1273G>A
CESC-US193495499334954993single base substitutionGAmissense_variantD47N139G>A
CESC-US193495499334954993single base substitutionGAmissense_variantD521N1561G>A
CESC-US193495499334954993single base substitutionGAupstream_gene_variant
CLLE-ES193492205934922059single base substitutionCTintron_variant
CLLE-ES193492205934922059single base substitutionCTupstream_gene_variant
CLLE-ES193494700434947005deletion of <=200bpTC-intron_variant
CLLE-ES193494700434947005deletion of <=200bpTC-upstream_gene_variant
CLLE-ES193495401234954012single base substitutionAGintron_variant
CLLE-ES193495401234954012single base substitutionAGupstream_gene_variant
CLLE-ES193495687334956873single base substitutionGTdownstream_gene_variant
CLLE-ES193495687334956873single base substitutionGTintron_variant
CLLE-ES193495687334956873single base substitutionGTupstream_gene_variant
COAD-US193494542234945422single base substitutionAT3_prime_UTR_variant
COAD-US193494542234945422single base substitutionATdownstream_gene_variant
COAD-US193494542234945422single base substitutionATsynonymous_variantG138G414A>T
COAD-US193494542234945422single base substitutionATsynonymous_variantG306G918A>T
COAD-US193494542234945422single base substitutionATsynonymous_variantG402G1206A>T
COAD-US193494542234945422single base substitutionATupstream_gene_variant
COAD-US193495783034957830single base substitutionCTdownstream_gene_variant
COAD-US193495783034957830single base substitutionCTmissense_variantP455L1364C>T
COAD-US193495783034957830single base substitutionCTmissense_variantP551L1652C>T
COAD-US193495783034957830single base substitutionCTmissense_variantP77L230C>T
COAD-US193495783034957830single base substitutionCTupstream_gene_variant
COCA-CN193492959334929593single base substitutionGT3_prime_UTR_variant
COCA-CN193492959334929593single base substitutionGTexon_variant
COCA-CN193492959334929593single base substitutionGTmissense_variantR140I419G>T
COCA-CN193492959334929593single base substitutionGTmissense_variantR168I503G>T
COCA-CN193492959334929593single base substitutionGTmissense_variantR72I215G>T
COCA-CN193492961234929612single base substitutionAC3_prime_UTR_variant
COCA-CN193492961234929612single base substitutionACexon_variant
COCA-CN193492961234929612single base substitutionACsynonymous_variantT146T438A>C
COCA-CN193492961234929612single base substitutionACsynonymous_variantT174T522A>C
COCA-CN193492961234929612single base substitutionACsynonymous_variantT78T234A>C
COCA-CN193493594534935945single base substitutionTC3_prime_UTR_variant
COCA-CN193493594534935945single base substitutionTCsynonymous_variantN134N402T>C
COCA-CN193493594534935945single base substitutionTCsynonymous_variantN202N606T>C
COCA-CN193493594534935945single base substitutionTCsynonymous_variantN230N690T>C
COCA-CN193494108834941088single base substitutionAGintron_variant
COCA-CN193494108834941088single base substitutionAGupstream_gene_variant
COCA-CN193494122134941221single base substitutionAG3_prime_UTR_variant
COCA-CN193494122134941221single base substitutionAGmissense_variantK11E31A>G
COCA-CN193494122134941221single base substitutionAGmissense_variantK179E535A>G
COCA-CN193494122134941221single base substitutionAGmissense_variantK247E739A>G
COCA-CN193494122134941221single base substitutionAGmissense_variantK275E823A>G
COCA-CN193494298934942989single base substitutionCT3_prime_UTR_variant
COCA-CN193494298934942989single base substitutionCTdownstream_gene_variant
COCA-CN193494298934942989single base substitutionCTsynonymous_variantS229S687C>T
COCA-CN193494298934942989single base substitutionCTsynonymous_variantS325S975C>T
COCA-CN193494298934942989single base substitutionCTsynonymous_variantS61S183C>T
COCA-CN193495797734957977single base substitutionACdownstream_gene_variant
COCA-CN193495797734957977single base substitutionACexon_variant
COCA-CN193495797734957977single base substitutionACintron_variant
COCA-CN193496003234960032single base substitutionGAdownstream_gene_variant
COCA-CN193496003234960032single base substitutionGAmissense_variantR136H407G>A
COCA-CN193496003234960032single base substitutionGAmissense_variantR514H1541G>A
COCA-CN193496003234960032single base substitutionGAmissense_variantR610H1829G>A
COCA-CN193496013234960132single base substitutionAC3_prime_UTR_variant
COCA-CN193496013234960132single base substitutionACdownstream_gene_variant
COCA-CN193496025334960253single base substitutionGT3_prime_UTR_variant
COCA-CN193496025334960253single base substitutionGTdownstream_gene_variant
ESAD-UK193491558734915587single base substitutionTCupstream_gene_variant
ESAD-UK193491604334916043single base substitutionTCupstream_gene_variant
ESAD-UK193491741934917419single base substitutionCTupstream_gene_variant
ESAD-UK193491896034918960insertion of <=200bp-Tupstream_gene_variant
ESAD-UK193491945734919457single base substitutionTGexon_variant
ESAD-UK193491945734919457single base substitutionTGsynonymous_variantG40G120T>G
ESAD-UK193491945734919457single base substitutionTGupstream_gene_variant
ESAD-UK193491988134919881single base substitutionGA5_prime_UTR_variant
ESAD-UK193491988134919881single base substitutionGAintron_variant
ESAD-UK193491988134919881single base substitutionGAupstream_gene_variant
ESAD-UK193491999334919993single base substitutionGA5_prime_UTR_variant
ESAD-UK193491999334919993single base substitutionGAintron_variant
ESAD-UK193491999334919993single base substitutionGAupstream_gene_variant
ESAD-UK193492040834920408single base substitutionTCintron_variant
ESAD-UK193492040834920408single base substitutionTCupstream_gene_variant
ESAD-UK193492074834920751deletion of <=200bpAAAG-intron_variant
ESAD-UK193492074834920751deletion of <=200bpAAAG-upstream_gene_variant
ESAD-UK193492084334920843single base substitutionGAintron_variant
ESAD-UK193492084334920843single base substitutionGAupstream_gene_variant
ESAD-UK193492328334923283single base substitutionCAdownstream_gene_variant
ESAD-UK193492328334923283single base substitutionCAintron_variant
ESAD-UK193492328334923283single base substitutionCAupstream_gene_variant
ESAD-UK193492545934925459single base substitutionAGdownstream_gene_variant
ESAD-UK193492545934925459single base substitutionAGintron_variant
ESAD-UK193492550634925506single base substitutionGAdownstream_gene_variant
ESAD-UK193492550634925506single base substitutionGAintron_variant
ESAD-UK193492591534925915single base substitutionTCdownstream_gene_variant
ESAD-UK193492591534925915single base substitutionTCintron_variant
ESAD-UK193492601834926018single base substitutionCTdownstream_gene_variant
ESAD-UK193492601834926018single base substitutionCTintron_variant
ESAD-UK193492617834926178single base substitutionCTdownstream_gene_variant
ESAD-UK193492617834926178single base substitutionCTintron_variant
ESAD-UK193492767034927670single base substitutionGAdownstream_gene_variant
ESAD-UK193492767034927670single base substitutionGAintron_variant
ESAD-UK193493323834933241deletion of <=200bpACTT-downstream_gene_variant
ESAD-UK193493323834933241deletion of <=200bpACTT-intron_variant
ESAD-UK193493361334933613single base substitutionCTdownstream_gene_variant
ESAD-UK193493361334933613single base substitutionCTintron_variant
ESAD-UK193493546334935463single base substitutionGAintron_variant
ESAD-UK193493579734935797single base substitutionCTintron_variant
ESAD-UK193493882234938822single base substitutionCTintron_variant
ESAD-UK193493882234938822single base substitutionCTupstream_gene_variant
ESAD-UK193493966934939669single base substitutionCGintron_variant
ESAD-UK193493966934939669single base substitutionCGupstream_gene_variant
ESAD-UK193494147134941471single base substitutionGAdownstream_gene_variant
ESAD-UK193494147134941471single base substitutionGAintron_variant
ESAD-UK193494195634941956deletion of <=200bpG-downstream_gene_variant
ESAD-UK193494195634941956deletion of <=200bpG-intron_variant
ESAD-UK193494503734945037single base substitutionCTdownstream_gene_variant
ESAD-UK193494503734945037single base substitutionCTintron_variant
ESAD-UK193494503734945037single base substitutionCTupstream_gene_variant
ESAD-UK193494555334945556deletion of <=200bpAATA-downstream_gene_variant
ESAD-UK193494555334945556deletion of <=200bpAATA-intron_variant
ESAD-UK193494555334945556deletion of <=200bpAATA-upstream_gene_variant
ESAD-UK193494678834946788single base substitutionGAintron_variant
ESAD-UK193494678834946788single base substitutionGAupstream_gene_variant
ESAD-UK193494745334947453single base substitutionGTintron_variant
ESAD-UK193494745334947453single base substitutionGTupstream_gene_variant
ESAD-UK193494779334947793single base substitutionATintron_variant
ESAD-UK193494779334947793single base substitutionATupstream_gene_variant
ESAD-UK193494841634948416single base substitutionGAintron_variant
ESAD-UK193494841634948416single base substitutionGAupstream_gene_variant
ESAD-UK193494864634948646single base substitutionGCintron_variant
ESAD-UK193494864634948646single base substitutionGCupstream_gene_variant
ESAD-UK193495062634950626single base substitutionCAintron_variant
ESAD-UK193495064834950648single base substitutionCTintron_variant
ESAD-UK193495141634951416single base substitutionAG3_prime_UTR_variant
ESAD-UK193495141634951416single base substitutionAGsynonymous_variantQ165Q495A>G
ESAD-UK193495141634951416single base substitutionAGsynonymous_variantQ385Q1155A>G
ESAD-UK193495141634951416single base substitutionAGsynonymous_variantQ481Q1443A>G
ESAD-UK193495141634951416single base substitutionAGsynonymous_variantQ7Q21A>G
ESAD-UK193495156334951563single base substitutionGCintron_variant
ESAD-UK193495473434954734single base substitutionAGintron_variant
ESAD-UK193495473434954734single base substitutionAGupstream_gene_variant
ESAD-UK193495689034956890deletion of <=200bpG-downstream_gene_variant
ESAD-UK193495689034956890deletion of <=200bpG-intron_variant
ESAD-UK193495689034956890deletion of <=200bpG-upstream_gene_variant
ESAD-UK193495816434958164single base substitutionGCdownstream_gene_variant
ESAD-UK193495816434958164single base substitutionGCintron_variant
ESAD-UK193495819634958196single base substitutionGCdownstream_gene_variant
ESAD-UK193495819634958196single base substitutionGCintron_variant
ESAD-UK193495863434958634single base substitutionCTdownstream_gene_variant
ESAD-UK193495863434958634single base substitutionCTintron_variant
ESAD-UK193495927534959275single base substitutionTCdownstream_gene_variant
ESAD-UK193495927534959275single base substitutionTCintron_variant
ESAD-UK193496102034961020single base substitutionCAdownstream_gene_variant
ESAD-UK193496132034961320single base substitutionGAdownstream_gene_variant
ESAD-UK193496152634961526single base substitutionCAdownstream_gene_variant
ESAD-UK193496249534962495single base substitutionGAdownstream_gene_variant
ESAD-UK193496369034963690single base substitutionGAdownstream_gene_variant
ESAD-UK193496522734965227single base substitutionGCdownstream_gene_variant
ESCA-CN193494311934943119single base substitutionTCdownstream_gene_variant
ESCA-CN193494311934943119single base substitutionTCintron_variant
ESCA-CN193495077934950779single base substitutionTGintron_variant
KIRC-US193493599534935995single base substitutionCA3_prime_UTR_variant
KIRC-US193493599534935995single base substitutionCAmissense_variantT151N452C>A
KIRC-US193493599534935995single base substitutionCAmissense_variantT219N656C>A
KIRC-US193493599534935995single base substitutionCAmissense_variantT247N740C>A
KIRC-US193495998134959981single base substitutionACdownstream_gene_variant
KIRC-US193495998134959981single base substitutionACexon_variant
KIRC-US193495998134959981single base substitutionACmissense_variantD119A356A>C
KIRC-US193495998134959981single base substitutionACmissense_variantD497A1490A>C
KIRC-US193495998134959981single base substitutionACmissense_variantD593A1778A>C
KIRP-US193492427934924279single base substitutionGA3_prime_UTR_variant
KIRP-US193492427934924279single base substitutionGAdownstream_gene_variant
KIRP-US193492427934924279single base substitutionGAexon_variant
KIRP-US193492427934924279single base substitutionGAintron_variant
KIRP-US193492427934924279single base substitutionGAmissense_variantR107Q320G>A
KIRP-US193492427934924279single base substitutionGAmissense_variantR11Q32G>A
KIRP-US193492427934924279single base substitutionGAmissense_variantR79Q236G>A
LAML-KR193491447534914475single base substitutionTCupstream_gene_variant
LGG-US193492958534929585single base substitutionGA3_prime_UTR_variant
LGG-US193492958534929585single base substitutionGAexon_variant
LGG-US193492958534929585single base substitutionGAsynonymous_variantP137P411G>A
LGG-US193492958534929585single base substitutionGAsynonymous_variantP165P495G>A
LGG-US193492958534929585single base substitutionGAsynonymous_variantP69P207G>A
LICA-CN193491702134917021single base substitutionATupstream_gene_variant
LICA-CN193494976534949765single base substitutionGT3_prime_UTR_variant
LICA-CN193494976534949765single base substitutionGT5_prime_UTR_variant
LICA-CN193494976534949765single base substitutionGTintron_variant
LICA-CN193494976534949765single base substitutionGTmissense_variantS350I1049G>T
LICA-CN193494976534949765single base substitutionGTmissense_variantS446I1337G>T
LICA-FR193493997134939971deletion of <=200bpT-intron_variant
LICA-FR193493997134939971deletion of <=200bpT-upstream_gene_variant
LICA-FR193494507034945070single base substitutionATdownstream_gene_variant
LICA-FR193494507034945070single base substitutionATintron_variant
LICA-FR193494507034945070single base substitutionATupstream_gene_variant
LICA-FR193495837134958371deletion of <=200bpA-downstream_gene_variant
LICA-FR193495837134958371deletion of <=200bpA-intron_variant
LICA-FR193495995534959955single base substitutionAGdownstream_gene_variant
LICA-FR193495995534959955single base substitutionAGexon_variant
LICA-FR193495995534959955single base substitutionAGsynonymous_variantQ110Q330A>G
LICA-FR193495995534959955single base substitutionAGsynonymous_variantQ488Q1464A>G
LICA-FR193495995534959955single base substitutionAGsynonymous_variantQ584Q1752A>G
LICA-FR193496212534962125single base substitutionAGdownstream_gene_variant
LIHC-US193491696934916969single base substitutionCGupstream_gene_variant
LINC-JP193491545034915450single base substitutionCTupstream_gene_variant
LINC-JP193491668234916682single base substitutionTCupstream_gene_variant
LINC-JP193491685934916859single base substitutionTGupstream_gene_variant
LINC-JP193492850634928506single base substitutionTCintron_variant
LINC-JP193493494934934949single base substitutionGTintron_variant
LINC-JP193493497234934972single base substitutionTGintron_variant
LINC-JP193494037134940371single base substitutionAGintron_variant
LINC-JP193494037134940371single base substitutionAGupstream_gene_variant
LINC-JP193494059534940595single base substitutionAGintron_variant
LINC-JP193494059534940595single base substitutionAGupstream_gene_variant
LINC-JP193494380434943804single base substitutionCAdownstream_gene_variant
LINC-JP193494380434943804single base substitutionCAintron_variant
LINC-JP193494380634943806single base substitutionTGdownstream_gene_variant
LINC-JP193494380634943806single base substitutionTGintron_variant
LINC-JP193495789534957895single base substitutionGAdownstream_gene_variant
LINC-JP193495789534957895single base substitutionGAmissense_variantG477R1429G>A
LINC-JP193495789534957895single base substitutionGAmissense_variantG573R1717G>A
LINC-JP193495789534957895single base substitutionGAmissense_variantG99R295G>A
LINC-JP193495789534957895single base substitutionGAupstream_gene_variant
LINC-JP193495789634957896single base substitutionGTdownstream_gene_variant
LINC-JP193495789634957896single base substitutionGTmissense_variantG477V1430G>T
LINC-JP193495789634957896single base substitutionGTmissense_variantG573V1718G>T
LINC-JP193495789634957896single base substitutionGTmissense_variantG99V296G>T
LINC-JP193495789634957896single base substitutionGTupstream_gene_variant
LINC-JP193495997834959978single base substitutionCAdownstream_gene_variant
LINC-JP193495997834959978single base substitutionCAexon_variant
LINC-JP193495997834959978single base substitutionCAstop_gainedS118*353C>A
LINC-JP193495997834959978single base substitutionCAstop_gainedS496*1487C>A
LINC-JP193495997834959978single base substitutionCAstop_gainedS592*1775C>A
LINC-JP193496002434960024single base substitutionGTdownstream_gene_variant
LINC-JP193496002434960024single base substitutionGTmissense_variantE133D399G>T
LINC-JP193496002434960024single base substitutionGTmissense_variantE511D1533G>T
LINC-JP193496002434960024single base substitutionGTmissense_variantE607D1821G>T
LIRI-JP193491533234915332single base substitutionTCupstream_gene_variant
LIRI-JP193491571734915717single base substitutionTCupstream_gene_variant
LIRI-JP193491750434917504single base substitutionGAupstream_gene_variant
LIRI-JP193491786834917868single base substitutionAGupstream_gene_variant
LIRI-JP193491885434918854single base substitutionCTupstream_gene_variant
LIRI-JP193492148134921481single base substitutionAGintron_variant
LIRI-JP193492148134921481single base substitutionAGmissense_variantI47V139A>G
LIRI-JP193492148134921481single base substitutionAGsplice_region_variant
LIRI-JP193492148134921481single base substitutionAGupstream_gene_variant
LIRI-JP193492330434923304single base substitutionAGdownstream_gene_variant
LIRI-JP193492330434923304single base substitutionAGintron_variant
LIRI-JP193492330434923304single base substitutionAGupstream_gene_variant
LIRI-JP193492617034926170single base substitutionGTdownstream_gene_variant
LIRI-JP193492617034926170single base substitutionGTintron_variant
LIRI-JP193492713134927131single base substitutionTGdownstream_gene_variant
LIRI-JP193492713134927131single base substitutionTGintron_variant
LIRI-JP193492848334928483single base substitutionCAintron_variant
LIRI-JP193492879034928790single base substitutionTCintron_variant
LIRI-JP193493129834931298single base substitutionAGdownstream_gene_variant
LIRI-JP193493129834931298single base substitutionAGintron_variant
LIRI-JP193493337534933375single base substitutionAGdownstream_gene_variant
LIRI-JP193493337534933375single base substitutionAGintron_variant
LIRI-JP193493362034933620single base substitutionGTdownstream_gene_variant
LIRI-JP193493362034933620single base substitutionGTintron_variant
LIRI-JP193493362134933621single base substitutionCTdownstream_gene_variant
LIRI-JP193493362134933621single base substitutionCTintron_variant
LIRI-JP193493368534933685single base substitutionAGdownstream_gene_variant
LIRI-JP193493368534933685single base substitutionAGintron_variant
LIRI-JP193493696834936968single base substitutionGTintron_variant
LIRI-JP193493696834936968single base substitutionGTupstream_gene_variant
LIRI-JP193493718334937183single base substitutionAGintron_variant
LIRI-JP193493718334937183single base substitutionAGupstream_gene_variant
LIRI-JP193493727034937270deletion of <=200bpA-intron_variant
LIRI-JP193493727034937270deletion of <=200bpA-upstream_gene_variant
LIRI-JP193493727234937272single base substitutionTCintron_variant
LIRI-JP193493727234937272single base substitutionTCupstream_gene_variant
LIRI-JP193493739734937397single base substitutionCTintron_variant
LIRI-JP193493739734937397single base substitutionCTupstream_gene_variant
LIRI-JP193493775334937753single base substitutionTCintron_variant
LIRI-JP193493775334937753single base substitutionTCupstream_gene_variant
LIRI-JP193494081234940812single base substitutionAGintron_variant
LIRI-JP193494081234940812single base substitutionAGupstream_gene_variant
LIRI-JP193494097334940973single base substitutionCTintron_variant
LIRI-JP193494097334940973single base substitutionCTupstream_gene_variant
LIRI-JP193494255434942554single base substitutionGAdownstream_gene_variant
LIRI-JP193494255434942554single base substitutionGAintron_variant
LIRI-JP193494273334942733single base substitutionGTdownstream_gene_variant
LIRI-JP193494273334942733single base substitutionGTintron_variant
LIRI-JP193494273434942734single base substitutionATdownstream_gene_variant
LIRI-JP193494273434942734single base substitutionATintron_variant
LIRI-JP193494300934943009single base substitutionAG3_prime_UTR_variant
LIRI-JP193494300934943009single base substitutionAGdownstream_gene_variant
LIRI-JP193494300934943009single base substitutionAGmissense_variantH236R707A>G
LIRI-JP193494300934943009single base substitutionAGmissense_variantH332R995A>G
LIRI-JP193494300934943009single base substitutionAGmissense_variantH68R203A>G
LIRI-JP193494357034943570single base substitutionAGdownstream_gene_variant
LIRI-JP193494357034943570single base substitutionAGintron_variant
LIRI-JP193494592334945923single base substitutionACdownstream_gene_variant
LIRI-JP193494592334945923single base substitutionACintron_variant
LIRI-JP193494592334945923single base substitutionACupstream_gene_variant
LIRI-JP193495086834950868single base substitutionAGintron_variant
LIRI-JP193495259234952592single base substitutionAGintron_variant
LIRI-JP193495340234953402single base substitutionCAintron_variant
LIRI-JP193495340234953402single base substitutionCAupstream_gene_variant
LIRI-JP193495345534953455single base substitutionAGintron_variant
LIRI-JP193495345534953455single base substitutionAGupstream_gene_variant
LIRI-JP193495418834954188single base substitutionTAintron_variant
LIRI-JP193495418834954188single base substitutionTAupstream_gene_variant
LIRI-JP193495616234956162single base substitutionAGdownstream_gene_variant
LIRI-JP193495616234956162single base substitutionAGintron_variant
LIRI-JP193495616234956162single base substitutionAGupstream_gene_variant
LIRI-JP193495639134956391single base substitutionAGdownstream_gene_variant
LIRI-JP193495639134956391single base substitutionAGintron_variant
LIRI-JP193495639134956391single base substitutionAGupstream_gene_variant
LIRI-JP193496061834960618single base substitutionAG3_prime_UTR_variant
LIRI-JP193496061834960618single base substitutionAGdownstream_gene_variant
LIRI-JP193496316734963167single base substitutionTCdownstream_gene_variant
LIRI-JP193496384534963845single base substitutionTGdownstream_gene_variant
LIRI-JP193496519934965199single base substitutionAGdownstream_gene_variant
LUSC-KR193491827234918272single base substitutionGAupstream_gene_variant
LUSC-KR193491857634918576single base substitutionGTupstream_gene_variant
LUSC-KR193492939534929395single base substitutionCGintron_variant
LUSC-KR193493344534933445single base substitutionCGdownstream_gene_variant
LUSC-KR193493344534933445single base substitutionCGintron_variant
LUSC-KR193493484434934844single base substitutionATintron_variant
LUSC-KR193493988034939880single base substitutionAGintron_variant
LUSC-KR193493988034939880single base substitutionAGupstream_gene_variant
LUSC-KR193494174834941748single base substitutionGAdownstream_gene_variant
LUSC-KR193494174834941748single base substitutionGAintron_variant
LUSC-KR193494354534943545single base substitutionAGdownstream_gene_variant
LUSC-KR193494354534943545single base substitutionAGintron_variant
LUSC-KR193494627134946271single base substitutionATintron_variant
LUSC-KR193494627134946271single base substitutionATupstream_gene_variant
LUSC-KR193494703034947030single base substitutionGTintron_variant
LUSC-KR193494703034947030single base substitutionGTupstream_gene_variant
LUSC-KR193495102134951021single base substitutionCTintron_variant
LUSC-KR193495141834951418single base substitutionTG3_prime_UTR_variant
LUSC-KR193495141834951418single base substitutionTGmissense_variantI166S497T>G
LUSC-KR193495141834951418single base substitutionTGmissense_variantI386S1157T>G
LUSC-KR193495141834951418single base substitutionTGmissense_variantI482S1445T>G
LUSC-KR193495141834951418single base substitutionTGmissense_variantI8S23T>G
LUSC-KR193496289934962899single base substitutionCTdownstream_gene_variant
LUSC-US193494524434945244single base substitutionGC3_prime_UTR_variant
LUSC-US193494524434945244single base substitutionGCdownstream_gene_variant
LUSC-US193494524434945244single base substitutionGCmissense_variantR109T326G>C
LUSC-US193494524434945244single base substitutionGCmissense_variantR277T830G>C
LUSC-US193494524434945244single base substitutionGCmissense_variantR373T1118G>C
LUSC-US193494524434945244single base substitutionGCupstream_gene_variant
LUSC-US193494538434945384single base substitutionAT3_prime_UTR_variant
LUSC-US193494538434945384single base substitutionATdownstream_gene_variant
LUSC-US193494538434945384single base substitutionATmissense_variantT126S376A>T
LUSC-US193494538434945384single base substitutionATmissense_variantT294S880A>T
LUSC-US193494538434945384single base substitutionATmissense_variantT390S1168A>T
LUSC-US193494538434945384single base substitutionATupstream_gene_variant
MALY-DE193491677534916775single base substitutionTCupstream_gene_variant
MALY-DE193491933534919335single base substitutionGA5_prime_UTR_variant
MALY-DE193491933534919335single base substitutionGAupstream_gene_variant
MALY-DE193492840234928402single base substitutionCGintron_variant
MALY-DE193493021434930214single base substitutionGTdownstream_gene_variant
MALY-DE193493021434930214single base substitutionGTintron_variant
MALY-DE193494685334946853insertion of <=200bp-Tintron_variant
MALY-DE193494685334946853insertion of <=200bp-Tupstream_gene_variant
MALY-DE193494752934947529single base substitutionCGintron_variant
MALY-DE193494752934947529single base substitutionCGupstream_gene_variant
MALY-DE193494878434948784single base substitutionGCintron_variant
MALY-DE193494878434948784single base substitutionGCupstream_gene_variant
MELA-AU193491618334916183single base substitutionCTupstream_gene_variant
MELA-AU193491624734916247single base substitutionCTupstream_gene_variant
MELA-AU193491651734916517single base substitutionCTupstream_gene_variant
MELA-AU193491697134916971single base substitutionCTupstream_gene_variant
MELA-AU193491813834918138single base substitutionGAupstream_gene_variant
MELA-AU193491836634918366single base substitutionCAupstream_gene_variant
MELA-AU193491891634918916single base substitutionTAupstream_gene_variant
MELA-AU193491904734919048multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU193492082834920828single base substitutionAGintron_variant
MELA-AU193492082834920828single base substitutionAGupstream_gene_variant
MELA-AU193492115434921154single base substitutionCTintron_variant
MELA-AU193492115434921154single base substitutionCTupstream_gene_variant
MELA-AU193492179634921796single base substitutionTAintron_variant
MELA-AU193492179634921796single base substitutionTAupstream_gene_variant
MELA-AU193492323234923232single base substitutionTCdownstream_gene_variant
MELA-AU193492323234923232single base substitutionTCintron_variant
MELA-AU193492323234923232single base substitutionTCupstream_gene_variant
MELA-AU193492417834924178single base substitutionGAdownstream_gene_variant
MELA-AU193492417834924178single base substitutionGAexon_variant
MELA-AU193492417834924178single base substitutionGAintron_variant
MELA-AU193492659934926599single base substitutionGAdownstream_gene_variant
MELA-AU193492659934926599single base substitutionGAintron_variant
MELA-AU193492723434927234single base substitutionCTdownstream_gene_variant
MELA-AU193492723434927234single base substitutionCTintron_variant
MELA-AU193492850834928508single base substitutionCTintron_variant
MELA-AU193492953434929534single base substitutionTCintron_variant
MELA-AU193492964834929648single base substitutionCT3_prime_UTR_variant
MELA-AU193492964834929648single base substitutionCTexon_variant
MELA-AU193492964834929648single base substitutionCTsynonymous_variantI158I474C>T
MELA-AU193492964834929648single base substitutionCTsynonymous_variantI186I558C>T
MELA-AU193492964834929648single base substitutionCTsynonymous_variantI90I270C>T
MELA-AU193492980934929810deletion of <=200bpTA-downstream_gene_variant
MELA-AU193492980934929810deletion of <=200bpTA-intron_variant
MELA-AU193493152634931526single base substitutionCTdownstream_gene_variant
MELA-AU193493152634931526single base substitutionCTintron_variant
MELA-AU193493218434932184single base substitutionCTdownstream_gene_variant
MELA-AU193493218434932184single base substitutionCTintron_variant
MELA-AU193493520434935205multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU193493596434935964single base substitutionCG3_prime_UTR_variant
MELA-AU193493596434935964single base substitutionCGmissense_variantR141G421C>G
MELA-AU193493596434935964single base substitutionCGmissense_variantR209G625C>G
MELA-AU193493596434935964single base substitutionCGmissense_variantR237G709C>G
MELA-AU193493647534936475single base substitutionCTintron_variant
MELA-AU193493647534936475single base substitutionCTupstream_gene_variant
MELA-AU193493693634936936single base substitutionCTintron_variant
MELA-AU193493693634936936single base substitutionCTupstream_gene_variant
MELA-AU193493729134937291single base substitutionAGintron_variant
MELA-AU193493729134937291single base substitutionAGupstream_gene_variant
MELA-AU193493745134937451single base substitutionCTintron_variant
MELA-AU193493745134937451single base substitutionCTupstream_gene_variant
MELA-AU193493780034937800single base substitutionCTintron_variant
MELA-AU193493780034937800single base substitutionCTupstream_gene_variant
MELA-AU193493814834938148single base substitutionCTintron_variant
MELA-AU193493814834938148single base substitutionCTupstream_gene_variant
MELA-AU193493867734938677single base substitutionCTintron_variant
MELA-AU193493867734938677single base substitutionCTupstream_gene_variant
MELA-AU193493880034938800single base substitutionGAintron_variant
MELA-AU193493880034938800single base substitutionGAupstream_gene_variant
MELA-AU193494052534940525single base substitutionCTintron_variant
MELA-AU193494052534940525single base substitutionCTupstream_gene_variant
MELA-AU193494085834940858single base substitutionAGintron_variant
MELA-AU193494085834940858single base substitutionAGupstream_gene_variant
MELA-AU193494176934941769single base substitutionCTdownstream_gene_variant
MELA-AU193494176934941769single base substitutionCTintron_variant
MELA-AU193494234534942345single base substitutionTCdownstream_gene_variant
MELA-AU193494234534942345single base substitutionTCintron_variant
MELA-AU193494280234942802single base substitutionCTdownstream_gene_variant
MELA-AU193494280234942802single base substitutionCTintron_variant
MELA-AU193494294234942942single base substitutionCT3_prime_UTR_variant
MELA-AU193494294234942942single base substitutionCTdownstream_gene_variant
MELA-AU193494294234942942single base substitutionCTstop_gainedQ214*640C>T
MELA-AU193494294234942942single base substitutionCTstop_gainedQ310*928C>T
MELA-AU193494294234942942single base substitutionCTstop_gainedQ46*136C>T
MELA-AU193494393034943930single base substitutionGAdownstream_gene_variant
MELA-AU193494393034943930single base substitutionGAintron_variant
MELA-AU193494479034944790single base substitutionACdownstream_gene_variant
MELA-AU193494479034944790single base substitutionACintron_variant
MELA-AU193494479034944790single base substitutionACupstream_gene_variant
MELA-AU193494640334946403single base substitutionCTintron_variant
MELA-AU193494640334946403single base substitutionCTupstream_gene_variant
MELA-AU193494649234946492single base substitutionCTintron_variant
MELA-AU193494649234946492single base substitutionCTupstream_gene_variant
MELA-AU193494663034946630single base substitutionCTintron_variant
MELA-AU193494663034946630single base substitutionCTupstream_gene_variant
MELA-AU193494783334947833single base substitutionTCintron_variant
MELA-AU193494783334947833single base substitutionTCupstream_gene_variant
MELA-AU193494837534948375single base substitutionCTintron_variant
MELA-AU193494837534948375single base substitutionCTupstream_gene_variant
MELA-AU193494839534948395single base substitutionCTintron_variant
MELA-AU193494839534948395single base substitutionCTupstream_gene_variant
MELA-AU193494920934949209single base substitutionCTintron_variant
MELA-AU193494920934949209single base substitutionCTupstream_gene_variant
MELA-AU193495050634950506single base substitutionCTintron_variant
MELA-AU193495053434950534single base substitutionTCintron_variant
MELA-AU193495060134950601single base substitutionCTintron_variant
MELA-AU193495113334951133single base substitutionGAintron_variant
MELA-AU193495141334951413single base substitutionCT3_prime_UTR_variant
MELA-AU193495141334951413single base substitutionCTsynonymous_variantV164V492C>T
MELA-AU193495141334951413single base substitutionCTsynonymous_variantV384V1152C>T
MELA-AU193495141334951413single base substitutionCTsynonymous_variantV480V1440C>T
MELA-AU193495141334951413single base substitutionCTsynonymous_variantV6V18C>T
MELA-AU193495210234952102single base substitutionCTintron_variant
MELA-AU193495267034952675deletion of <=200bpTGGAAG-intron_variant
MELA-AU193495357534953575single base substitutionTAintron_variant
MELA-AU193495357534953575single base substitutionTAupstream_gene_variant
MELA-AU193495365234953652single base substitutionCTintron_variant
MELA-AU193495365234953652single base substitutionCTupstream_gene_variant
MELA-AU193495423834954238single base substitutionCTintron_variant
MELA-AU193495423834954238single base substitutionCTupstream_gene_variant
MELA-AU193495541734955417single base substitutionCTdownstream_gene_variant
MELA-AU193495541734955417single base substitutionCTintron_variant
MELA-AU193495541734955417single base substitutionCTupstream_gene_variant
MELA-AU193495564134955641single base substitutionTGdownstream_gene_variant
MELA-AU193495564134955641single base substitutionTGintron_variant
MELA-AU193495564134955641single base substitutionTGupstream_gene_variant
MELA-AU193495578834955788single base substitutionGTdownstream_gene_variant
MELA-AU193495578834955788single base substitutionGTintron_variant
MELA-AU193495578834955788single base substitutionGTupstream_gene_variant
MELA-AU193495610334956104multiple base substitution (>=2bp and <=200bp)ATGGdownstream_gene_variant
MELA-AU193495610334956104multiple base substitution (>=2bp and <=200bp)ATGGintron_variant
MELA-AU193495610334956104multiple base substitution (>=2bp and <=200bp)ATGGupstream_gene_variant
MELA-AU193495649934956499single base substitutionCTdownstream_gene_variant
MELA-AU193495649934956499single base substitutionCTintron_variant
MELA-AU193495649934956499single base substitutionCTupstream_gene_variant
MELA-AU193495659834956598single base substitutionACdownstream_gene_variant
MELA-AU193495659834956598single base substitutionACintron_variant
MELA-AU193495659834956598single base substitutionACupstream_gene_variant
MELA-AU193495698934956989single base substitutionCTdownstream_gene_variant
MELA-AU193495698934956989single base substitutionCTintron_variant
MELA-AU193495698934956989single base substitutionCTupstream_gene_variant
MELA-AU193495819634958196single base substitutionGAdownstream_gene_variant
MELA-AU193495819634958196single base substitutionGAintron_variant
MELA-AU193495845934958459single base substitutionCTdownstream_gene_variant
MELA-AU193495845934958459single base substitutionCTintron_variant
MELA-AU193495871434958714single base substitutionCTdownstream_gene_variant
MELA-AU193495871434958714single base substitutionCTintron_variant
MELA-AU193495950234959502single base substitutionCTdownstream_gene_variant
MELA-AU193495950234959502single base substitutionCTintron_variant
MELA-AU193495999134959991single base substitutionTCdownstream_gene_variant
MELA-AU193495999134959991single base substitutionTCexon_variant
MELA-AU193495999134959991single base substitutionTCsynonymous_variantD122D366T>C
MELA-AU193495999134959991single base substitutionTCsynonymous_variantD500D1500T>C
MELA-AU193495999134959991single base substitutionTCsynonymous_variantD596D1788T>C
MELA-AU193496022734960227single base substitutionGT3_prime_UTR_variant
MELA-AU193496022734960227single base substitutionGTdownstream_gene_variant
MELA-AU193496053534960535single base substitutionCT3_prime_UTR_variant
MELA-AU193496053534960535single base substitutionCTdownstream_gene_variant
MELA-AU193496060934960609single base substitutionAG3_prime_UTR_variant
MELA-AU193496060934960609single base substitutionAGdownstream_gene_variant
MELA-AU193496127134961271single base substitutionCTdownstream_gene_variant
MELA-AU193496148634961486single base substitutionGAdownstream_gene_variant
MELA-AU193496290634962906single base substitutionCTdownstream_gene_variant
MELA-AU193496290734962907single base substitutionCTdownstream_gene_variant
MELA-AU193496339934963399single base substitutionCTdownstream_gene_variant
MELA-AU193496375434963754single base substitutionTCdownstream_gene_variant
MELA-AU193496414734964147single base substitutionATdownstream_gene_variant
MELA-AU193496414934964149single base substitutionCAdownstream_gene_variant
MELA-AU193496433134964331single base substitutionCTdownstream_gene_variant
MELA-AU193496498434964998deletion of <=200bpAATAAAGGTTATTAA-downstream_gene_variant
MELA-AU193496503534965035single base substitutionCTdownstream_gene_variant
ORCA-IN193492012934920129single base substitutionGAintron_variant
ORCA-IN193492012934920129single base substitutionGAsplice_donor_variant
ORCA-IN193492012934920129single base substitutionGAupstream_gene_variant
ORCA-IN193492721034927210single base substitutionGAdownstream_gene_variant
ORCA-IN193492721034927210single base substitutionGAintron_variant
ORCA-IN193495852434958524single base substitutionAGdownstream_gene_variant
ORCA-IN193495852434958524single base substitutionAGintron_variant
OV-AU193491714834917148single base substitutionGTupstream_gene_variant
OV-AU193492410734924107single base substitutionGAdownstream_gene_variant
OV-AU193492410734924107single base substitutionGAintron_variant
OV-AU193492410734924107single base substitutionGAupstream_gene_variant
OV-AU193492472434924724single base substitutionGAdownstream_gene_variant
OV-AU193492472434924724single base substitutionGAintron_variant
OV-AU193492558534925585single base substitutionAGdownstream_gene_variant
OV-AU193492558534925585single base substitutionAGintron_variant
OV-AU193493081934930819single base substitutionCGdownstream_gene_variant
OV-AU193493081934930819single base substitutionCGintron_variant
OV-AU193493082134930821single base substitutionAGdownstream_gene_variant
OV-AU193493082134930821single base substitutionAGintron_variant
OV-AU193493692434936924single base substitutionGAintron_variant
OV-AU193493692434936924single base substitutionGAupstream_gene_variant
OV-AU193493796434937964single base substitutionGAintron_variant
OV-AU193493796434937964single base substitutionGAupstream_gene_variant
OV-AU193495560734955607single base substitutionAGdownstream_gene_variant
OV-AU193495560734955607single base substitutionAGintron_variant
OV-AU193495560734955607single base substitutionAGupstream_gene_variant
OV-AU193495598134955981single base substitutionAGdownstream_gene_variant
OV-AU193495598134955981single base substitutionAGintron_variant
OV-AU193495598134955981single base substitutionAGupstream_gene_variant
OV-US193494967334949673single base substitutionGT5_prime_UTR_variant
OV-US193494967334949673single base substitutionGTintron_variant
OV-US193494967334949673single base substitutionGTsplice_acceptor_variant
PACA-AU193492112134921122deletion of <=200bpAT-intron_variant
PACA-AU193492112134921122deletion of <=200bpAT-upstream_gene_variant
PACA-AU193492760834927608single base substitutionCTdownstream_gene_variant
PACA-AU193492760834927608single base substitutionCTintron_variant
PACA-AU193493120134931201single base substitutionAGdownstream_gene_variant
PACA-AU193493120134931201single base substitutionAGintron_variant
PACA-AU193494120334941203single base substitutionAG3_prime_UTR_variant
PACA-AU193494120334941203single base substitutionAGmissense_variantM173V517A>G
PACA-AU193494120334941203single base substitutionAGmissense_variantM241V721A>G
PACA-AU193494120334941203single base substitutionAGmissense_variantM269V805A>G
PACA-AU193494120334941203single base substitutionAGmissense_variantM5V13A>G
PACA-AU193494779334947793single base substitutionATintron_variant
PACA-AU193494779334947793single base substitutionATupstream_gene_variant
PACA-AU193495922434959224deletion of <=200bpC-downstream_gene_variant
PACA-AU193495922434959224deletion of <=200bpC-intron_variant
PACA-AU193496001034960010single base substitutionGAdownstream_gene_variant
PACA-AU193496001034960010single base substitutionGAexon_variant
PACA-AU193496001034960010single base substitutionGAmissense_variantV129I385G>A
PACA-AU193496001034960010single base substitutionGAmissense_variantV507I1519G>A
PACA-AU193496001034960010single base substitutionGAmissense_variantV603I1807G>A
PACA-AU193496238234962428deletion of <=200bpCCCATCTCTACAAAAAATACAAAAAGTAGCTGAGCCTGGTGGCACTT-downstream_gene_variant
PACA-AU193496306534963065single base substitutionGAdownstream_gene_variant
PACA-AU193496339134963391single base substitutionGTdownstream_gene_variant
PACA-AU193496463434964634single base substitutionAGdownstream_gene_variant
PACA-AU193496509234965092single base substitutionCAdownstream_gene_variant
PACA-CA193491525934915259single base substitutionCTupstream_gene_variant
PACA-CA193491934334919343insertion of <=200bp-Gexon_variant
PACA-CA193491934334919343insertion of <=200bp-Gframeshift_variantA2A?
PACA-CA193491934334919343insertion of <=200bp-Gupstream_gene_variant
PACA-CA193492304334923043insertion of <=200bp-Adownstream_gene_variant
PACA-CA193492304334923043insertion of <=200bp-Aintron_variant
PACA-CA193492304334923043insertion of <=200bp-Aupstream_gene_variant
PACA-CA193492524134925241single base substitutionGAdownstream_gene_variant
PACA-CA193492524134925241single base substitutionGAintron_variant
PACA-CA193492723534927235single base substitutionGAdownstream_gene_variant
PACA-CA193492723534927235single base substitutionGAintron_variant
PACA-CA193492955034929550single base substitutionGTmissense_variantG126C376G>T
PACA-CA193492955034929550single base substitutionGTmissense_variantG154C460G>T
PACA-CA193492955034929550single base substitutionGTmissense_variantG58C172G>T
PACA-CA193492955034929550single base substitutionGTsplice_region_variant
PACA-CA193493274134932741single base substitutionGAdownstream_gene_variant
PACA-CA193493274134932741single base substitutionGAintron_variant
PACA-CA193493294134932941single base substitutionAGdownstream_gene_variant
PACA-CA193493294134932941single base substitutionAGintron_variant
PACA-CA193493301534933015single base substitutionCTdownstream_gene_variant
PACA-CA193493301534933015single base substitutionCTintron_variant
PACA-CA193493601634936016deletion of <=200bpT-3_prime_UTR_variant
PACA-CA193493601634936016deletion of <=200bpT-frameshift_variantL158
PACA-CA193493601634936016deletion of <=200bpT-frameshift_variantL226
PACA-CA193493601634936016deletion of <=200bpT-frameshift_variantL254
PACA-CA193493728034937280single base substitutionCTintron_variant
PACA-CA193493728034937280single base substitutionCTupstream_gene_variant
PACA-CA193494322634943226single base substitutionTCdownstream_gene_variant
PACA-CA193494322634943226single base substitutionTCintron_variant
PACA-CA193494779334947793single base substitutionATintron_variant
PACA-CA193494779334947793single base substitutionATupstream_gene_variant
PACA-CA193495055634950556deletion of <=200bpT-intron_variant
PACA-CA193495079834950798single base substitutionCTintron_variant
PACA-CA193495458034954580single base substitutionCAintron_variant
PACA-CA193495458034954580single base substitutionCAupstream_gene_variant
PACA-CA193496009034960090single base substitutionGAdownstream_gene_variant
PACA-CA193496009034960090single base substitutionGAsynonymous_variantQ155Q465G>A
PACA-CA193496009034960090single base substitutionGAsynonymous_variantQ533Q1599G>A
PACA-CA193496009034960090single base substitutionGAsynonymous_variantQ629Q1887G>A
PACA-CA193496179834961798single base substitutionATdownstream_gene_variant
PACA-CA193496433334964333single base substitutionAGdownstream_gene_variant
PAEN-AU193491997934920007deletion of <=200bpCGAGGAGTGCAAACGCTATTTCCACCCTG-5_prime_UTR_variant
PAEN-AU193491997934920007deletion of <=200bpCGAGGAGTGCAAACGCTATTTCCACCCTG-intron_variant
PAEN-AU193491997934920007deletion of <=200bpCGAGGAGTGCAAACGCTATTTCCACCCTG-upstream_gene_variant
PAEN-AU193493495934934959single base substitutionTGintron_variant
PAEN-AU193495866334958663single base substitutionGTdownstream_gene_variant
PAEN-AU193495866334958663single base substitutionGTintron_variant
PAEN-IT193491646834916468single base substitutionACupstream_gene_variant
PBCA-DE193491466634914666deletion of <=200bpT-upstream_gene_variant
PBCA-DE193491516534915165insertion of <=200bp-Tupstream_gene_variant
PBCA-DE193492593234925932single base substitutionGTdownstream_gene_variant
PBCA-DE193492593234925932single base substitutionGTintron_variant
PBCA-DE193494429434944294insertion of <=200bp-Adownstream_gene_variant
PBCA-DE193494429434944294insertion of <=200bp-Aintron_variant
PBCA-DE193494712334947123single base substitutionGAintron_variant
PBCA-DE193494712334947123single base substitutionGAupstream_gene_variant
PBCA-DE193494840534948405insertion of <=200bp-CTTACintron_variant
PBCA-DE193494840534948405insertion of <=200bp-CTTACupstream_gene_variant
PBCA-DE193494929734949297insertion of <=200bp-Aintron_variant
PBCA-DE193494929734949297insertion of <=200bp-Aupstream_gene_variant
PRAD-CA193493496134934961single base substitutionTGintron_variant
PRAD-CA193493496734934967single base substitutionTGintron_variant
PRAD-CA193494372534943725single base substitutionGAdownstream_gene_variant
PRAD-CA193494372534943725single base substitutionGAintron_variant
PRAD-CA193494404234944042single base substitutionCTdownstream_gene_variant
PRAD-CA193494404234944042single base substitutionCTintron_variant
PRAD-UK193493881634938816single base substitutionAGintron_variant
PRAD-UK193493881634938816single base substitutionAGupstream_gene_variant
PRAD-UK193494208934942089single base substitutionAGdownstream_gene_variant
PRAD-UK193494208934942089single base substitutionAGintron_variant
PRAD-UK193495890134958901single base substitutionTCdownstream_gene_variant
PRAD-UK193495890134958901single base substitutionTCintron_variant
READ-US193493480434934804single base substitutionCT3_prime_UTR_variant
READ-US193493480434934804single base substitutionCTmissense_variantP117S349C>T
READ-US193493480434934804single base substitutionCTmissense_variantP185S553C>T
READ-US193493480434934804single base substitutionCTmissense_variantP213S637C>T
RECA-EU193492517334925173single base substitutionATdownstream_gene_variant
RECA-EU193492517334925173single base substitutionATintron_variant
RECA-EU193493139134931391single base substitutionAGdownstream_gene_variant
RECA-EU193493139134931391single base substitutionAGintron_variant
RECA-EU193493405134934051single base substitutionCGdownstream_gene_variant
RECA-EU193493405134934051single base substitutionCGintron_variant
RECA-EU193493696534936965single base substitutionGTintron_variant
RECA-EU193493696534936965single base substitutionGTupstream_gene_variant
RECA-EU193493870434938704single base substitutionAGintron_variant
RECA-EU193493870434938704single base substitutionAGupstream_gene_variant
RECA-EU193494142334941423single base substitutionCGdownstream_gene_variant
RECA-EU193494142334941423single base substitutionCGintron_variant
RECA-EU193494503134945031single base substitutionCTdownstream_gene_variant
RECA-EU193494503134945031single base substitutionCTintron_variant
RECA-EU193494503134945031single base substitutionCTupstream_gene_variant
SKCA-BR193491565034915650insertion of <=200bp-ATTupstream_gene_variant
SKCA-BR193491601134916011single base substitutionACupstream_gene_variant
SKCA-BR193491666634916666single base substitutionGTupstream_gene_variant
SKCA-BR193491668334916683single base substitutionATupstream_gene_variant
SKCA-BR193491707034917070single base substitutionCTupstream_gene_variant
SKCA-BR193491982134919821single base substitutionGA5_prime_UTR_variant
SKCA-BR193491982134919821single base substitutionGAintron_variant
SKCA-BR193491982134919821single base substitutionGAupstream_gene_variant
SKCA-BR193492683734926837single base substitutionCTdownstream_gene_variant
SKCA-BR193492683734926837single base substitutionCTintron_variant
SKCA-BR193493237034932374deletion of <=200bpAAAAT-downstream_gene_variant
SKCA-BR193493237034932374deletion of <=200bpAAAAT-intron_variant
SKCA-BR193493367934933679single base substitutionTGdownstream_gene_variant
SKCA-BR193493367934933679single base substitutionTGintron_variant
SKCA-BR193493495634934956single base substitutionTGintron_variant
SKCA-BR193493496134934961single base substitutionTGintron_variant
SKCA-BR193493496734934967single base substitutionTGintron_variant
SKCA-BR193493751334937525deletion of <=200bpCTTTCTTTTTTTT-intron_variant
SKCA-BR193493751334937525deletion of <=200bpCTTTCTTTTTTTT-upstream_gene_variant
SKCA-BR193493780034937800single base substitutionCTintron_variant
SKCA-BR193493780034937800single base substitutionCTupstream_gene_variant
SKCA-BR193494440234944402single base substitutionCTdownstream_gene_variant
SKCA-BR193494440234944402single base substitutionCTintron_variant
SKCA-BR193494807134948072deletion of <=200bpTA-intron_variant
SKCA-BR193494807134948072deletion of <=200bpTA-upstream_gene_variant
SKCA-BR193494808334948083single base substitutionATintron_variant
SKCA-BR193494808334948083single base substitutionATupstream_gene_variant
SKCA-BR193494808434948084insertion of <=200bp-AAAAAAATintron_variant
SKCA-BR193494808434948084insertion of <=200bp-AAAAAAATupstream_gene_variant
SKCA-BR193494808434948084insertion of <=200bp-ATintron_variant
SKCA-BR193494808434948084insertion of <=200bp-ATupstream_gene_variant
SKCA-BR193495017234950174deletion of <=200bpCTG-intron_variant
SKCA-BR193495032634950326single base substitutionTCintron_variant
SKCA-BR193495079134950791single base substitutionTGintron_variant
SKCA-BR193495089934950899single base substitutionCTintron_variant
SKCA-BR193495312834953128single base substitutionGAintron_variant
SKCA-BR193495312834953128single base substitutionGAupstream_gene_variant
SKCA-BR193495400134954001insertion of <=200bp-CAintron_variant
SKCA-BR193495400134954001insertion of <=200bp-CAupstream_gene_variant
SKCA-BR193495703434957034single base substitutionTGdownstream_gene_variant
SKCA-BR193495703434957034single base substitutionTGintron_variant
SKCA-BR193495703434957034single base substitutionTGupstream_gene_variant
SKCA-BR193496121134961211single base substitutionCTdownstream_gene_variant
SKCA-BR193496320034963200single base substitutionCTdownstream_gene_variant
SKCM-US193492155434921554single base substitutionCG3_prime_UTR_variant
SKCM-US193492155434921554single base substitutionCG5_prime_UTR_premature_start_codon_gain_variant
SKCM-US193492155434921554single base substitutionCGexon_variant
SKCM-US193492155434921554single base substitutionCGintron_variant
SKCM-US193492155434921554single base substitutionCGstop_gainedS71*212C>G
SKCM-US193492155434921554single base substitutionCGupstream_gene_variant
SKCM-US193492957834929578single base substitutionCT3_prime_UTR_variant
SKCM-US193492957834929578single base substitutionCTexon_variant
SKCM-US193492957834929578single base substitutionCTmissense_variantP135L404C>T
SKCM-US193492957834929578single base substitutionCTmissense_variantP163L488C>T
SKCM-US193492957834929578single base substitutionCTmissense_variantP67L200C>T
SKCM-US193492964834929648single base substitutionCT3_prime_UTR_variant
SKCM-US193492964834929648single base substitutionCTexon_variant
SKCM-US193492964834929648single base substitutionCTsynonymous_variantI158I474C>T
SKCM-US193492964834929648single base substitutionCTsynonymous_variantI186I558C>T
SKCM-US193492964834929648single base substitutionCTsynonymous_variantI90I270C>T
SKCM-US193494969234949692single base substitutionCT3_prime_UTR_variant
SKCM-US193494969234949692single base substitutionCT5_prime_UTR_variant
SKCM-US193494969234949692single base substitutionCTintron_variant
SKCM-US193494969234949692single base substitutionCTmissense_variantP326S976C>T
SKCM-US193494969234949692single base substitutionCTmissense_variantP422S1264C>T
SKCM-US193495999134959991single base substitutionTCdownstream_gene_variant
SKCM-US193495999134959991single base substitutionTCexon_variant
SKCM-US193495999134959991single base substitutionTCsynonymous_variantD122D366T>C
SKCM-US193495999134959991single base substitutionTCsynonymous_variantD500D1500T>C
SKCM-US193495999134959991single base substitutionTCsynonymous_variantD596D1788T>C
STAD-US193491695134916951single base substitutionCTupstream_gene_variant
STAD-US193491940834919408single base substitutionGTexon_variant
STAD-US193491940834919408single base substitutionGTmissense_variantG24V71G>T
STAD-US193491940834919408single base substitutionGTupstream_gene_variant
STAD-US193492276934922769single base substitutionGA3_prime_UTR_variant
STAD-US193492276934922769single base substitutionGA5_prime_UTR_variant
STAD-US193492276934922769single base substitutionGAexon_variant
STAD-US193492276934922769single base substitutionGAintron_variant
STAD-US193492276934922769single base substitutionGAmissense_variantA48T142G>A
STAD-US193492276934922769single base substitutionGAmissense_variantA76T226G>A
STAD-US193492276934922769single base substitutionGAupstream_gene_variant
STAD-US193492957834929578single base substitutionCA3_prime_UTR_variant
STAD-US193492957834929578single base substitutionCAexon_variant
STAD-US193492957834929578single base substitutionCAmissense_variantP135H404C>A
STAD-US193492957834929578single base substitutionCAmissense_variantP163H488C>A
STAD-US193492957834929578single base substitutionCAmissense_variantP67H200C>A
STAD-US193492958534929585single base substitutionGA3_prime_UTR_variant
STAD-US193492958534929585single base substitutionGAexon_variant
STAD-US193492958534929585single base substitutionGAsynonymous_variantP137P411G>A
STAD-US193492958534929585single base substitutionGAsynonymous_variantP165P495G>A
STAD-US193492958534929585single base substitutionGAsynonymous_variantP69P207G>A
STAD-US193493477034934770single base substitutionTC3_prime_UTR_variant
STAD-US193493477034934770single base substitutionTCsynonymous_variantD105D315T>C
STAD-US193493477034934770single base substitutionTCsynonymous_variantD173D519T>C
STAD-US193493477034934770single base substitutionTCsynonymous_variantD201D603T>C
STAD-US193493593934935939single base substitutionAC3_prime_UTR_variant
STAD-US193493593934935939single base substitutionACsynonymous_variantA132A396A>C
STAD-US193493593934935939single base substitutionACsynonymous_variantA200A600A>C
STAD-US193493593934935939single base substitutionACsynonymous_variantA228A684A>C
STAD-US193493596534935965single base substitutionGA3_prime_UTR_variant
STAD-US193493596534935965single base substitutionGAmissense_variantR141H422G>A
STAD-US193493596534935965single base substitutionGAmissense_variantR209H626G>A
STAD-US193493596534935965single base substitutionGAmissense_variantR237H710G>A
STAD-US193494289634942896single base substitutionGA3_prime_UTR_variant
STAD-US193494289634942896single base substitutionGAdownstream_gene_variant
STAD-US193494289634942896single base substitutionGAsynonymous_variantT198T594G>A
STAD-US193494289634942896single base substitutionGAsynonymous_variantT294T882G>A
STAD-US193494289634942896single base substitutionGAsynonymous_variantT30T90G>A
STAD-US193494302234943022deletion of <=200bpG-3_prime_UTR_variant
STAD-US193494302234943022deletion of <=200bpG-downstream_gene_variant
STAD-US193494302234943022deletion of <=200bpG-frameshift_variantK240
STAD-US193494302234943022deletion of <=200bpG-frameshift_variantK336
STAD-US193494302234943022deletion of <=200bpG-frameshift_variantK72
STAD-US193494523134945231single base substitutionAG3_prime_UTR_variant
STAD-US193494523134945231single base substitutionAGdownstream_gene_variant
STAD-US193494523134945231single base substitutionAGmissense_variantN105D313A>G
STAD-US193494523134945231single base substitutionAGmissense_variantN273D817A>G
STAD-US193494523134945231single base substitutionAGmissense_variantN369D1105A>G
STAD-US193494523134945231single base substitutionAGupstream_gene_variant
STAD-US193494979834949798single base substitutionAC3_prime_UTR_variant
STAD-US193494979834949798single base substitutionAC5_prime_UTR_variant
STAD-US193494979834949798single base substitutionACintron_variant
STAD-US193494979834949798single base substitutionACmissense_variantH361P1082A>C
STAD-US193494979834949798single base substitutionACmissense_variantH457P1370A>C
UCEC-US193491690634916906single base substitutionGTupstream_gene_variant
UCEC-US193491939134919391single base substitutionCTexon_variant
UCEC-US193491939134919391single base substitutionCTsynonymous_variantG18G54C>T
UCEC-US193491939134919391single base substitutionCTupstream_gene_variant
UCEC-US193492958534929585single base substitutionGA3_prime_UTR_variant
UCEC-US193492958534929585single base substitutionGAexon_variant
UCEC-US193492958534929585single base substitutionGAsynonymous_variantP137P411G>A
UCEC-US193492958534929585single base substitutionGAsynonymous_variantP165P495G>A
UCEC-US193492958534929585single base substitutionGAsynonymous_variantP69P207G>A
UCEC-US193493478734934787single base substitutionCA3_prime_UTR_variant
UCEC-US193493478734934787single base substitutionCAmissense_variantS111Y332C>A
UCEC-US193493478734934787single base substitutionCAmissense_variantS179Y536C>A
UCEC-US193493478734934787single base substitutionCAmissense_variantS207Y620C>A
UCEC-US193493592234935922single base substitutionGA3_prime_UTR_variant
UCEC-US193493592234935922single base substitutionGAmissense_variantE127K379G>A
UCEC-US193493592234935922single base substitutionGAmissense_variantE195K583G>A
UCEC-US193493592234935922single base substitutionGAmissense_variantE223K667G>A
UCEC-US193493595134935951single base substitutionTC3_prime_UTR_variant
UCEC-US193493595134935951single base substitutionTCsynonymous_variantD136D408T>C
UCEC-US193493595134935951single base substitutionTCsynonymous_variantD204D612T>C
UCEC-US193493595134935951single base substitutionTCsynonymous_variantD232D696T>C
UCEC-US193494117934941179single base substitutionGT3_prime_UTR_variant
UCEC-US193494117934941179single base substitutionGTmissense_variantD165Y493G>T
UCEC-US193494117934941179single base substitutionGTmissense_variantD233Y697G>T
UCEC-US193494117934941179single base substitutionGTmissense_variantD261Y781G>T
UCEC-US193494117934941179single base substitutionGTupstream_gene_variant
UCEC-US193494121834941218single base substitutionCT3_prime_UTR_variant
UCEC-US193494121834941218single base substitutionCTmissense_variantR10W28C>T
UCEC-US193494121834941218single base substitutionCTmissense_variantR178W532C>T
UCEC-US193494121834941218single base substitutionCTmissense_variantR246W736C>T
UCEC-US193494121834941218single base substitutionCTmissense_variantR274W820C>T
UCEC-US193494289634942896single base substitutionGA3_prime_UTR_variant
UCEC-US193494289634942896single base substitutionGAdownstream_gene_variant
UCEC-US193494289634942896single base substitutionGAsynonymous_variantT198T594G>A
UCEC-US193494289634942896single base substitutionGAsynonymous_variantT294T882G>A
UCEC-US193494289634942896single base substitutionGAsynonymous_variantT30T90G>A
UCEC-US193494299334942993single base substitutionGA3_prime_UTR_variant
UCEC-US193494299334942993single base substitutionGAdownstream_gene_variant
UCEC-US193494299334942993single base substitutionGAmissense_variantE231K691G>A
UCEC-US193494299334942993single base substitutionGAmissense_variantE327K979G>A
UCEC-US193494299334942993single base substitutionGAmissense_variantE63K187G>A
UCEC-US193494525434945254single base substitutionCA3_prime_UTR_variant
UCEC-US193494525434945254single base substitutionCAdownstream_gene_variant
UCEC-US193494525434945254single base substitutionCAsynonymous_variantI112I336C>A
UCEC-US193494525434945254single base substitutionCAsynonymous_variantI280I840C>A
UCEC-US193494525434945254single base substitutionCAsynonymous_variantI376I1128C>A
UCEC-US193494525434945254single base substitutionCAupstream_gene_variant
UCEC-US193494969334949693single base substitutionCG3_prime_UTR_variant
UCEC-US193494969334949693single base substitutionCG5_prime_UTR_variant
UCEC-US193494969334949693single base substitutionCGintron_variant
UCEC-US193494969334949693single base substitutionCGmissense_variantP326R977C>G
UCEC-US193494969334949693single base substitutionCGmissense_variantP422R1265C>G
UCEC-US193495141634951416single base substitutionAC3_prime_UTR_variant
UCEC-US193495141634951416single base substitutionACmissense_variantQ165H495A>C
UCEC-US193495141634951416single base substitutionACmissense_variantQ385H1155A>C
UCEC-US193495141634951416single base substitutionACmissense_variantQ481H1443A>C
UCEC-US193495141634951416single base substitutionACmissense_variantQ7H21A>C
UCEC-US193495781534957815single base substitutionTGdownstream_gene_variant
UCEC-US193495781534957815single base substitutionTGmissense_variantV450G1349T>G
UCEC-US193495781534957815single base substitutionTGmissense_variantV546G1637T>G
UCEC-US193495781534957815single base substitutionTGmissense_variantV72G215T>G
UCEC-US193495781534957815single base substitutionTGupstream_gene_variant
UCEC-US193496003234960032single base substitutionGAdownstream_gene_variant
UCEC-US193496003234960032single base substitutionGAmissense_variantR136H407G>A
UCEC-US193496003234960032single base substitutionGAmissense_variantR514H1541G>A
UCEC-US193496003234960032single base substitutionGAmissense_variantR610H1829G>A
UCEC-US193496007234960072single base substitutionGTdownstream_gene_variant
UCEC-US193496007234960072single base substitutionGTmissense_variantK149N447G>T
UCEC-US193496007234960072single base substitutionGTmissense_variantK527N1581G>T
UCEC-US193496007234960072single base substitutionGTmissense_variantK623N1869G>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-B5-A0JY-01COSM994767c.495G>Ap.P165PSubstitution - coding silent19:34438680-34438680+
HCC100TCOSM3707037c.1821G>Tp.E607DSubstitution - Missense19:34469119-34469119+
TCGA-D8-A1J8-01COSM3822686c.796C>Ap.L266MSubstitution - Missense19:34450289-34450289+
TCGA-AA-A010-01COSM286223c.882G>Ap.T294TSubstitution - coding silent19:34451991-34451991+
TCGA-CD-A4MG-01COSM4076851c.488C>Ap.P163HSubstitution - Missense19:34438673-34438673+
PAPNNXCOSM5004463c.777_778insGGAGp.K260fs*4Insertion - Frameshift19:34450270-34450271+
TCGA-AP-A0LE-01COSM994774c.1144A>Gp.N382DSubstitution - Missense19:34454455-34454455+
9227_TCOSM5039359c.222+1G>Ap.?Unknown19:34430660-34430660+
TCGA-AM-5820-01COSM1392743c.1652C>Tp.P551LSubstitution - Missense19:34466925-34466925+
TCGA-AP-A059-01COSM994776c.1443A>Cp.Q481HSubstitution - Missense19:34460511-34460511+
HCC2998COSM2751878c.1772A>Cp.D591ASubstitution - Missense19:34469070-34469070+
HCC2998COSM2751853c.526C>Tp.R176CSubstitution - Missense19:34438711-34438711+
TCGA-GU-A42R-01COSM3796941c.1299A>Gp.A433ASubstitution - coding silent19:34458822-34458822+
LC_S38COSM1190000c.1403T>Cp.I468TSubstitution - Missense19:34460471-34460471+
HCC51COSM1612047c.1717G>Ap.G573RSubstitution - Missense19:34466990-34466990+
YUWANDCOSM1712142c.623C>Tp.P208LSubstitution - Missense19:34443885-34443885+
LPJ108COSM1316488c.1405G>Tp.V469LSubstitution - Missense19:34460473-34460473+
TCGA-B5-A11E-01COSM286223c.882G>Ap.T294TSubstitution - coding silent19:34451991-34451991+
HCC116COSM1612049c.1775C>Ap.S592*Substitution - Nonsense19:34469073-34469073+
TCGA-D1-A0ZS-01COSM994771c.820C>Tp.R274WSubstitution - Missense19:34450313-34450313+
TCGA-ER-A2NC-06COSM3532309c.212C>Gp.S71*Substitution - Nonsense19:34430649-34430649+
227_TCOSM3959918c.495G>Cp.P165PSubstitution - coding silent19:34438680-34438680+
S0045COSM5883087c.1297G>Tp.A433SSubstitution - Missense19:34458820-34458820+
RK164_C01COSM3701468c.139A>Gp.I47VSubstitution - Missense19:34430576-34430576+
TCGA-CG-5717-01COSM4076856c.1370A>Cp.H457PSubstitution - Missense19:34458893-34458893+
TLE41COSM4167856c.143A>Tp.D48VSubstitution - Missense19:34430580-34430580+
TCGA-AA-3715-01COSM270485c.1622A>Tp.D541VSubstitution - Missense19:34466895-34466895+
PCSI_0311_Pa_P_526COSM3787635c.1887G>Ap.Q629QSubstitution - coding silent19:34469185-34469185+
TCGA-F1-6177-01COSM286223c.882G>Ap.T294TSubstitution - coding silent19:34451991-34451991+
TCGA-22-4604-01COSM710341c.1168A>Tp.T390SSubstitution - Missense19:34454479-34454479+
TCGA-B0-4817-01COSM3362796c.740C>Ap.T247NSubstitution - Missense19:34445090-34445090+
TCGA-D1-A16F-01COSM293217c.1829G>Ap.R610HSubstitution - Missense19:34469127-34469127+
TCGA-AP-A059-01COSM994777c.1637T>Gp.V546GSubstitution - Missense19:34466910-34466910+
SS6003115COSM5036274c.120T>Gp.G40GSubstitution - coding silent19:34428552-34428552+
Pat_59_BCOSM5855450c.1012G>Ap.D338NSubstitution - Missense19:34452121-34452121+
TCGA-EE-A2MS-06COSM3532312c.1264C>Tp.P422SSubstitution - Missense19:34458787-34458787+
TCGA-BS-A0UF-01COSM994778c.1869G>Tp.K623NSubstitution - Missense19:34469167-34469167+
SC_9091COSM5557358c.453C>Ap.I151ISubstitution - coding silent19:34434962-34434962+
TCGA-HT-7603-01COSM994767c.495G>Ap.P165PSubstitution - coding silent19:34438680-34438680+
TCGA-B0-4945-01COSM474550c.1778A>Cp.D593ASubstitution - Missense19:34469076-34469076+
2171673COSM4423341c.1246-1G>Cp.?Unknown19:34458768-34458768+
TCGA-HU-8602-01COSM4076849c.71G>Tp.G24VSubstitution - Missense19:34428503-34428503+
TCGA-BG-A0MQ-01COSM994766c.54C>Tp.G18GSubstitution - coding silent19:34428486-34428486+
RK072_C01COSM1630856c.995A>Gp.H332RSubstitution - Missense19:34452104-34452104+
T3724COSM4738583c.931C>Tp.Q311*Substitution - Nonsense19:34452040-34452040+
sysucc-1370TCOSM293217c.1829G>Ap.R610HSubstitution - Missense19:34469127-34469127+
TCGA-BR-6452-01COSM4076854c.710G>Ap.R237HSubstitution - Missense19:34445060-34445060+
Gp2DCOSM2751857c.690T>Cp.N230NSubstitution - coding silent19:34445040-34445040+
PACA70COSM1158317c.805A>Gp.M269VSubstitution - Missense19:34450298-34450298+
8067246COSM3771004c.1807G>Ap.V603ISubstitution - Missense19:34469105-34469105+
TCGA-B5-A11E-01COSM994772c.979G>Ap.E327KSubstitution - Missense19:34452088-34452088+
SW48COSM2751863c.819G>Ap.W273*Substitution - Nonsense19:34450312-34450312+
TCGA-AX-A0J0-01COSM994773c.1128C>Ap.I376ISubstitution - coding silent19:34454349-34454349+
sysucc-311TCOSM5464483c.522A>Cp.T174TSubstitution - coding silent19:34438707-34438707+
HCC51COSM1612048c.1718G>Tp.G573VSubstitution - Missense19:34466991-34466991+
HCC100COSM3707037c.1821G>Tp.E607DSubstitution - Missense19:34469119-34469119+
Gp5DCOSM2751847c.214A>Cp.K72QSubstitution - Missense19:34430651-34430651+
TCGA-AA-A010-01COSM286224c.1113G>Tp.K371NSubstitution - Missense19:34454334-34454334+
TCGA-BK-A0C9-01COSM994775c.1265C>Gp.P422RSubstitution - Missense19:34458788-34458788+
PD4120aCOSM165359c.1447G>Ap.E483KSubstitution - Missense19:34460515-34460515+
TCGA-HM-A4S6-01COSM4854985c.1561G>Ap.D521NSubstitution - Missense19:34464088-34464088+
TCGA-HU-A4H3-01COSM4076850c.226G>Ap.A76TSubstitution - Missense19:34431864-34431864+
587376COSM1231516c.1267A>Cp.N423HSubstitution - Missense19:34458790-34458790+
T207COSM4738582c.69delGp.A25fs*22Deletion - Frameshift19:34428501-34428501+
TCGA-B5-A0JY-01COSM187644c.667G>Ap.E223KSubstitution - Missense19:34445017-34445017+
FM474TCOSM673867c.223-2A>Tp.?Unknown19:34431859-34431859+
TCGA-EE-A2MU-06COSM3532310c.488C>Tp.P163LSubstitution - Missense19:34438673-34438673+
S47_preCOSM5575056c.724G>Tp.E242*Substitution - Nonsense19:34445074-34445074+
PT35COSM5914212c.871+6G>Cp.?Unknown19:34450370-34450370+
T3225COSM994767c.495G>Ap.P165PSubstitution - coding silent19:34438680-34438680+
SNUH_G26_S1COSM3680878c.1133-6T>Cp.?Unknown19:34454438-34454438+
587284COSM293217c.1829G>Ap.R610HSubstitution - Missense19:34469127-34469127+
CHEWS019COSM4580927c.225T>Cp.V75VSubstitution - coding silent19:34431863-34431863+
TCGA-G2-A2ES-01COSM1304417c.84C>Tp.I28ISubstitution - coding silent19:34428516-34428516+
PD8612aCOSM5796357c.671C>Gp.A224GSubstitution - Missense19:34445021-34445021+
LUAD-B02216COSM335474c.1547G>Ap.R516QSubstitution - Missense19:34464074-34464074+
2292380COSM4610018c.150T>Gp.D50ESubstitution - Missense19:34430587-34430587+
TCGA-BS-A0UV-01COSM994767c.495G>Ap.P165PSubstitution - coding silent19:34438680-34438680+
CHC437TCOSM4958022c.1752A>Gp.Q584QSubstitution - coding silent19:34469050-34469050+
YUKATCOSM5389363c.1725G>Ap.Q575QSubstitution - coding silent19:34466998-34466998+
sysucc-880TCOSM2751857c.690T>Cp.N230NSubstitution - coding silent19:34445040-34445040+
Gp5DCOSM2751857c.690T>Cp.N230NSubstitution - coding silent19:34445040-34445040+
I2L-P16-Tumor-BiopsyCOSM5364891c.1095T>Ap.I365ISubstitution - coding silent19:34454316-34454316+
ESO-045COSM1269603c.709C>Tp.R237CSubstitution - Missense19:34445059-34445059+
702TSCOSM673868c.347T>Cp.L116SSubstitution - Missense19:34433401-34433401+
Pat_41_BCOSM5855449c.907C>Tp.P303SSubstitution - Missense19:34452016-34452016+
LIM2551COSM4644192c.54C>Gp.G18GSubstitution - coding silent19:34428486-34428486+
TCGA-B1-5398-01COSM3989922c.320G>Ap.R107QSubstitution - Missense19:34433374-34433374+
SA084COSM214321c.319C>Tp.R107*Substitution - Nonsense19:34433373-34433373+
TCGA-D7-8572-01COSM4076853c.684A>Cp.A228ASubstitution - coding silent19:34445034-34445034+
CHC437TCOSM4958022c.1752A>Gp.Q584QSubstitution - coding silent19:34469050-34469050+
TCGA-CK-5916-01COSM3692273c.1206A>Tp.G402GSubstitution - coding silent19:34454517-34454517+
ATL047COSM5706970c.1459G>Ap.G487RSubstitution - Missense19:34460527-34460527+
TCGA-EE-A3AA-06COSM3532311c.558C>Tp.I186ISubstitution - coding silent19:34438743-34438743+
HCC116TCOSM1612049c.1775C>Ap.S592*Substitution - Nonsense19:34469073-34469073+
sysucc-783TCOSM5484276c.975C>Tp.S325SSubstitution - coding silent19:34452084-34452084+
TCGA-AP-A054-01COSM994769c.696T>Cp.D232DSubstitution - coding silent19:34445046-34445046+
HCC068TCOSM5824213c.1337G>Tp.S446ISubstitution - Missense19:34458860-34458860+
PCSI_0302_Pa_P_526COSM4808449c.460G>Tp.G154CSubstitution - Missense19:34438645-34438645+
TCGA-BR-8591-01COSM4076852c.603T>Cp.D201DSubstitution - coding silent19:34443865-34443865+
TCGA-BR-4361-01COSM4076855c.1105A>Gp.N369DSubstitution - Missense19:34454326-34454326+
6481_CLMCOSM5755343c.173_176delACAGp.R59fs*38Deletion - Frameshift19:34430610-34430613+
SJDOSTEOS002COSM5759757c.1402-4delGp.?Unknown19:34460466-34460466+
TCGA-DM-A1D4-01COSM1392743c.1652C>Tp.P551LSubstitution - Missense19:34466925-34466925+
pfg143TCOSM4765156c.1247_1248insTp.L418fs*3Insertion - Frameshift19:34458770-34458771+
PD24337aCOSM5791144c.467C>Ap.T156NSubstitution - Missense19:34438652-34438652+
HCC2998COSM4631660c.28G>Ap.E10KSubstitution - Missense19:34428460-34428460+
CSCC-27-TCOSM4472329c.1775C>Tp.S592LSubstitution - Missense19:34469073-34469073+
sysucc-783TCOSM5484275c.823A>Gp.K275ESubstitution - Missense19:34450316-34450316+
Gp2DCOSM2751847c.214A>Cp.K72QSubstitution - Missense19:34430651-34430651+
LIM1215COSM4281377c.222G>Tp.Q74HSubstitution - Missense19:34430659-34430659+
TCGA-EK-A2RB-01COSM4820053c.752C>Tp.P251LSubstitution - Missense19:34445102-34445102+
TCGA-60-2724-01COSM710342c.1118G>Cp.R373TSubstitution - Missense19:34454339-34454339+
HCC51TCOSM1612047c.1717G>Ap.G573RSubstitution - Missense19:34466990-34466990+
8044838COSM1158317c.805A>Gp.M269VSubstitution - Missense19:34450298-34450298+
TCGA-AH-6643-01COSM1564504c.637C>Tp.P213SSubstitution - Missense19:34443899-34443899+
TCGA-AP-A059-01COSM994768c.620C>Ap.S207YSubstitution - Missense19:34443882-34443882+
HN_62741COSM130026c.1702A>Tp.N568YSubstitution - Missense19:34466975-34466975+
YUKLABCOSM1712143c.841_842CC>TTp.P281LSubstitution - Missense19:34450334-34450335+
TCGA-13-0807-01COSM69408c.1246-1G>Tp.?Unknown19:34458768-34458768+
TCGA-AA-3685-01COSM293217c.1829G>Ap.R610HSubstitution - Missense19:34469127-34469127+
TCGA-B5-A0JY-01COSM994770c.781G>Tp.D261YSubstitution - Missense19:34450274-34450274+
3N43-VS-3T43COSM4982048c.154A>Gp.I52VSubstitution - Missense19:34430591-34430591+
TCGA-AN-A046-01COSM2751853c.526C>Tp.R176CSubstitution - Missense19:34438711-34438711+
CSCC-4-TCOSM4558231c.75G>Ap.A25ASubstitution - coding silent19:34428507-34428507+
392COSM4428213c.1711G>Ap.D571NSubstitution - Missense19:34466984-34466984+
2492729COSM2751871c.1348G>Ap.V450MSubstitution - Missense19:34458871-34458871+
DLD1COSM4623928c.871G>Tp.G291*Substitution - Nonsense19:34450364-34450364+
TCGA-BR-6452-01COSM994767c.495G>Ap.P165PSubstitution - coding silent19:34438680-34438680+
TCGA-A2-A0EV-01COSM439229c.1809C>Tp.V603VSubstitution - coding silent19:34469107-34469107+
HCC51TCOSM1612048c.1718G>Tp.G573VSubstitution - Missense19:34466991-34466991+
TCGA-EE-A3AB-06COSM3532313c.1788T>Cp.D596DSubstitution - coding silent19:34469086-34469086+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.63158019q126132951510835|dbSNP|BC003153|G/T|non-coding||2252|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.D593Ac.1778A>C1934959981RCCC
ACMissensep.H457Pc.1370A>C1934949798STAD
AG3-UTRSNV.c.1920+495A>G1934960618HC
AGMissensep.I89Vc.265A>G1934922808LUAD
ATMissensep.D48Vc.143A>T1934921485ALL
ATMissensep.N568Yc.1702A>T1934957880HNSC
ATMissensep.T390Sc.1168A>T1934945384LUSC
CAMissensep.T247Nc.740C>A1934935995RCCC
CGMissensep.I151Mc.453C>G1934925867LUAD
CGMissensep.P422Rc.1265C>G1934949693UCEC
CGNonsensep.S71*c.212C>G1934921554CM
CGSynonymousp.T578Tc.1734C>G1934957912LUAD
CTMissensep.P163Lc.488C>T1934929578CM
CTMissensep.P422Sc.1264C>T1934949692CM
CTMissensep.R237Cc.709C>T1934935964ESCA
CTMissensep.R274Wc.820C>T1934941218UCEC
CTNonsensep.Q64*c.190C>T1934921532ALL
CTNonsensep.R107*c.319C>T1934924278BRCA
CTSynonymousp.G18Gc.54C>T1934919391UCEC
CTSynonymousp.I186Ic.558C>T1934929648CM
CTSynonymousp.I28Ic.84C>T1934919421BLCA
CTSynonymousp.V603Vc.1809C>T1934960012BRCA
GAMissensep.E483Kc.1447G>A1934951420BRCA
GAMissensep.R610Hc.1829G>A1934960032COREAD
GAMissensep.R610Hc.1829G>A1934960032UCEC
GASynonymousp.P165Pc.495G>A1934929585LGG
GASynonymousp.Q167Qc.501G>A1934929591ALL
GASynonymousp.T294Tc.882G>A1934942896STAD
GCMissensep.R373Tc.1118G>C1934945244LUSC
GTIntronicSNV.c.293+38G>T1934922874NSCLC
GTNonsensep.E471*c.1411G>T1934951384LUAD
GTSpliceAcceptorSNV.c.1246-1G>T1934949673OV
TCSynonymousp.D232Dc.696T>C1934935951UCEC
TCSynonymousp.D596Dc.1788T>C1934959991CM
TCSynonymousp.F170Fc.510T>C1934929600CM
TCSynonymousp.L397Lc.1189T>C1934945405CM
T-IntronicDeletion.c.649+157delT1934934950CM