DPF2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA116510894165108941+Missense_MutationSNPAACTCGA-4Z-AA7R-01A-11D-A391-08TCGA-4Z-AA7R-10A-01D-A394-08g.chr11:65108941A>Cc.373A>Cc.(373-375)Act>Cctp.T125P
BLCA116511314265113142+Nonsense_MutationSNPGGTTCGA-CU-A5W6-01A-11D-A289-08TCGA-CU-A5W6-10A-01D-A289-08g.chr11:65113142G>Tc.643G>Tc.(643-645)Gga>Tgap.G215*
BLCA116511314365113143+Missense_MutationSNPGGTTCGA-CU-A5W6-01A-11D-A289-08TCGA-CU-A5W6-10A-01D-A289-08g.chr11:65113143G>Tc.644G>Tc.(643-645)gGa>gTap.G215V
BLCA116511316065113160+Nonsense_MutationSNPCCTTCGA-XF-A9SI-01A-11D-A391-08TCGA-XF-A9SI-10A-01D-A394-08g.chr11:65113160C>Tc.661C>Tc.(661-663)Cga>Tgap.R221*
BLCA116511326265113262+Missense_MutationSNPGGCTCGA-G2-AA3D-01A-11D-A391-08TCGA-G2-AA3D-10A-01D-A394-08g.chr11:65113262G>Cc.763G>Cc.(763-765)Gag>Cagp.E255Q
BLCA116511346065113460+Missense_MutationSNPGGTTCGA-XF-AAN5-01A-11D-A42E-08TCGA-XF-AAN5-10A-01D-A42H-08g.chr11:65113460G>Tc.835G>Tc.(835-837)Gac>Tacp.D279Y
BLCA116511351865113518+Missense_MutationSNPGGATCGA-XF-AAN7-01A-11D-A42E-08TCGA-XF-AAN7-10A-01D-A42H-08g.chr11:65113518G>Ac.893G>Ac.(892-894)tGt>tAtp.C298Y
BLCA116511636565116365+Missense_MutationSNPGGATCGA-KQ-A41S-01A-12D-A339-08TCGA-KQ-A41S-10C-01D-A339-08g.chr11:65116365G>Ac.1062G>Ac.(1060-1062)atG>atAp.M354I
BRCA116510785565107855+Splice_SiteSNPGGTTCGA-E2-A573-01A-11D-A29N-09TCGA-E2-A573-10A-01D-A29N-09g.chr11:65107855G>Tc.e2-1
BRCA116511378865113788+SilentSNPCCTTCGA-D8-A1J9-01A-11D-A13L-09TCGA-D8-A1J9-10A-01D-A13O-09g.chr11:65113788C>Tc.975C>Tc.(973-975)atC>atTp.I325I
BRCA116511638065116380+SilentSNPGGATCGA-BH-A0E7-01A-11W-A050-09TCGA-BH-A0E7-10A-01W-A055-09g.chr11:65116380G>Ac.1077G>Ac.(1075-1077)ccG>ccAp.P359P
COAD116510846965108469+Missense_MutationSNPGGTTCGA-CM-6677-01A-11D-1835-10TCGA-CM-6677-10A-01D-1835-10g.chr11:65108469G>Tc.226G>Tc.(226-228)Gcc>Tccp.A76S
COAD116510849365108493+Nonsense_MutationSNPCCTTCGA-DM-A1HB-01A-21D-A183-10TCGA-DM-A1HB-10A-01D-A183-10g.chr11:65108493C>Tc.250C>Tc.(250-252)Cga>Tgap.R84*
COAD116511148265111482+SilentSNPCCTTCGA-AA-A01R-01A-21W-A096-10TCGA-AA-A01R-11A-12W-A096-10g.chr11:65111482C>Tc.579C>Tc.(577-579)gcC>gcTp.A193A
COAD116511326065113260+Missense_MutationSNPCCATCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr11:65113260C>Ac.761C>Ac.(760-762)tCt>tAtp.S254Y
COAD116511351765113518+Frame_Shift_DelDELTGTG-TCGA-G4-6588-01A-11D-1771-10TCGA-G4-6588-10A-01D-1771-10g.chr11:65113517_65113518delTGc.892_893delTGc.(892-894)tgtfsp.C298fs
COAD116511374365113743+SilentSNPCCTTCGA-DM-A1HA-01A-11D-A152-10TCGA-DM-A1HA-10A-01D-A152-10g.chr11:65113743C>Tc.930C>Tc.(928-930)acC>acTp.T310T
COAD116511377465113774+Missense_MutationSNPCCATCGA-AA-3516-01A-02W-0833-10TCGA-AA-3516-10A-01W-0833-10g.chr11:65113774C>Ac.961C>Ac.(961-963)Cgc>Agcp.R321S
COAD116511379665113796+Missense_MutationSNPAACTCGA-AA-3531-01A-01W-0831-10TCGA-AA-3531-10A-01W-0831-10g.chr11:65113796A>Cc.983A>Cc.(982-984)aAa>aCap.K328T
COAD116511382365113823+Missense_MutationSNPAAGTCGA-AA-3531-01A-01W-0831-10TCGA-AA-3531-10A-01W-0831-10g.chr11:65113823A>Gc.1010A>Gc.(1009-1011)gAg>gGgp.E337G
COAD116511638065116380+SilentSNPGGATCGA-A6-2672-01A-01W-0833-10TCGA-A6-2672-10A-01W-0833-10g.chr11:65116380G>Ac.1077G>Ac.(1075-1077)ccG>ccAp.P359P
COADREAD116510846965108469+Missense_MutationSNPGGTTCGA-CM-6677-01A-11D-1835-10TCGA-CM-6677-10A-01D-1835-10g.chr11:65108469G>Tc.226G>Tc.(226-228)Gcc>Tccp.A76S
COADREAD116510849365108493+Nonsense_MutationSNPCCTTCGA-DM-A1HB-01A-21D-A183-10TCGA-DM-A1HB-10A-01D-A183-10g.chr11:65108493C>Tc.250C>Tc.(250-252)Cga>Tgap.R84*
COADREAD116511148265111482+SilentSNPCCTTCGA-AA-A01R-01A-21W-A096-10TCGA-AA-A01R-11A-12W-A096-10g.chr11:65111482C>Tc.579C>Tc.(577-579)gcC>gcTp.A193A
COADREAD116511326065113260+Missense_MutationSNPCCATCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr11:65113260C>Ac.761C>Ac.(760-762)tCt>tAtp.S254Y
COADREAD116511351765113518+Frame_Shift_DelDELTGTG-TCGA-G4-6588-01A-11D-1771-10TCGA-G4-6588-10A-01D-1771-10g.chr11:65113517_65113518delTGc.892_893delTGc.(892-894)tgtfsp.C298fs
COADREAD116511372065113720+Missense_MutationSNPCCTTCGA-AG-3902-01A-01W-1073-09TCGA-AG-3902-10A-01W-1073-09g.chr11:65113720C>Tc.907C>Tc.(907-909)Cat>Tatp.H303Y
COADREAD116511374365113743+SilentSNPCCTTCGA-DM-A1HA-01A-11D-A152-10TCGA-DM-A1HA-10A-01D-A152-10g.chr11:65113743C>Tc.930C>Tc.(928-930)acC>acTp.T310T
COADREAD116511377465113774+Missense_MutationSNPCCATCGA-AA-3516-01A-02W-0833-10TCGA-AA-3516-10A-01W-0833-10g.chr11:65113774C>Ac.961C>Ac.(961-963)Cgc>Agcp.R321S
COADREAD116511379665113796+Missense_MutationSNPAACTCGA-AA-3531-01A-01W-0831-10TCGA-AA-3531-10A-01W-0831-10g.chr11:65113796A>Cc.983A>Cc.(982-984)aAa>aCap.K328T
COADREAD116511382365113823+Missense_MutationSNPAAGTCGA-AA-3531-01A-01W-0831-10TCGA-AA-3531-10A-01W-0831-10g.chr11:65113823A>Gc.1010A>Gc.(1009-1011)gAg>gGgp.E337G
COADREAD116511638065116380+SilentSNPGGATCGA-A6-2672-01A-01W-0833-10TCGA-A6-2672-10A-01W-0833-10g.chr11:65116380G>Ac.1077G>Ac.(1075-1077)ccG>ccAp.P359P
COADREAD116511916565119165+Missense_MutationSNPTTATCGA-AG-A01Y-01A-41W-A096-10TCGA-AG-A01Y-11A-11W-A096-10g.chr11:65119165T>Ac.1111T>Ac.(1111-1113)Tgc>Agcp.C371S
DLBC116511345965113459+SilentSNPGGTTCGA-G8-6324-01A-11D-2210-10TCGA-G8-6324-10A-01D-2210-10g.chr11:65113459G>Tc.834G>Tc.(832-834)ggG>ggTp.G278G
ESCA116511152965111529+Missense_MutationSNPAAGTCGA-LN-A9FQ-01A-31D-A387-09TCGA-LN-A9FQ-10A-01D-A38A-09g.chr11:65111529A>Gc.626A>Gc.(625-627)tAt>tGtp.Y209C
GBM116510793665107936+Missense_MutationSNPGGATCGA-06-0192-01B-01W-0348-08TCGA-06-0192-10A-01W-0348-08g.chr11:65107936G>Ac.113G>Ac.(112-114)cGc>cAcp.R38H
GBMLGG116510793665107936+Missense_MutationSNPGGATCGA-06-0192-01B-01W-0348-08TCGA-06-0192-10A-01W-0348-08g.chr11:65107936G>Ac.113G>Ac.(112-114)cGc>cAcp.R38H
GBMLGG116510902665109026+Missense_MutationSNPCCTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr11:65109026C>Tc.458C>Tc.(457-459)gCg>gTgp.A153V
HNSC116510800465108004+Missense_MutationSNPCCATCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr11:65108004C>Ac.181C>Ac.(181-183)Cac>Aacp.H61N
HNSC116510893865108938+Missense_MutationSNPCCTTCGA-CV-7101-01A-11D-2012-08TCGA-CV-7101-10A-01D-2013-08g.chr11:65108938C>Tc.370C>Tc.(370-372)Cgc>Tgcp.R124C
HNSC116511379365113793+Frame_Shift_DelDELGG-TCGA-CV-7242-01A-11D-2012-08TCGA-CV-7242-10A-01D-2013-08g.chr11:65113793delGc.980delGc.(979-981)tgcfsp.C327fs
HNSC116511637465116374+SilentSNPCCTTCGA-CQ-7072-01A-21D-A30E-08TCGA-CQ-7072-10A-01D-A30H-08g.chr11:65116374C>Tc.1071C>Tc.(1069-1071)ctC>ctTp.L357L
KIPAN116510795665107956+Missense_MutationSNPCCGTCGA-MH-A55W-01A-11D-A26P-10TCGA-MH-A55W-10A-01D-A26P-10g.chr11:65107956C>Gc.133C>Gc.(133-135)Cag>Gagp.Q45E
KIPAN116510847265108472+Missense_MutationSNPCCTTCGA-2Z-A9J8-01A-11D-A42J-10TCGA-2Z-A9J8-10A-01D-A42M-10g.chr11:65108472C>Tc.229C>Tc.(229-231)Cgg>Tggp.R77W
KIPAN116511319865113198+SilentSNPGGATCGA-BQ-5876-01A-11D-1589-08TCGA-BQ-5876-11A-01D-1589-08g.chr11:65113198G>Ac.699G>Ac.(697-699)ttG>ttAp.L233L
KIPAN116511342065113420+SilentSNPAACTCGA-B0-4811-01A-01D-1501-10TCGA-B0-4811-11A-02D-1501-10g.chr11:65113420A>Cc.795A>Cc.(793-795)ggA>ggCp.G265G
KIPAN116511343965113439+Missense_MutationSNPTTCTCGA-BQ-7058-01A-11D-1961-08TCGA-BQ-7058-11A-01D-1961-08g.chr11:65113439T>Cc.814T>Cc.(814-816)Tac>Cacp.Y272H
KIRC116511342065113420+SilentSNPAACTCGA-B0-4811-01A-01D-1501-10TCGA-B0-4811-11A-02D-1501-10g.chr11:65113420A>Cc.795A>Cc.(793-795)ggA>ggCp.G265G
KIRP116510795665107956+Missense_MutationSNPCCGTCGA-MH-A55W-01A-11D-A26P-10TCGA-MH-A55W-10A-01D-A26P-10g.chr11:65107956C>Gc.133C>Gc.(133-135)Cag>Gagp.Q45E
KIRP116510847265108472+Missense_MutationSNPCCTTCGA-2Z-A9J8-01A-11D-A42J-10TCGA-2Z-A9J8-10A-01D-A42M-10g.chr11:65108472C>Tc.229C>Tc.(229-231)Cgg>Tggp.R77W
KIRP116511319865113198+SilentSNPGGATCGA-BQ-5876-01A-11D-1589-08TCGA-BQ-5876-11A-01D-1589-08g.chr11:65113198G>Ac.699G>Ac.(697-699)ttG>ttAp.L233L
KIRP116511343965113439+Missense_MutationSNPTTCTCGA-BQ-7058-01A-11D-1961-08TCGA-BQ-7058-11A-01D-1961-08g.chr11:65113439T>Cc.814T>Cc.(814-816)Tac>Cacp.Y272H
LGG116510902665109026+Missense_MutationSNPCCTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr11:65109026C>Tc.458C>Tc.(457-459)gCg>gTgp.A153V
LIHC116511128665111286+Missense_MutationSNPGGATCGA-DD-A3A6-01A-11D-A22F-10TCGA-DD-A3A6-11A-11D-A22F-10g.chr11:65111286G>Ac.536G>Ac.(535-537)cGt>cAtp.R179H
LIHC116511318065113180+Missense_MutationSNPCCGTCGA-ES-A2HS-01A-11D-A183-10TCGA-ES-A2HS-11A-11D-A183-10g.chr11:65113180C>Gc.681C>Gc.(679-681)caC>caGp.H227Q
LIHC116511635165116351+Missense_MutationSNPCCGTCGA-DD-A73F-01A-11D-A32G-10TCGA-DD-A73F-10A-01D-A32G-10g.chr11:65116351C>Gc.1048C>Gc.(1048-1050)Cgt>Ggtp.R350G
LUAD116510799665107996+Missense_MutationSNPAATTCGA-05-4244-01A-01D-1105-08TCGA-05-4244-10A-01D-1105-08g.chr11:65107996A>Tc.173A>Tc.(172-174)gAa>gTap.E58V
LUAD116510844765108447+SilentSNPCCTTCGA-55-8506-01A-11D-2393-08TCGA-55-8506-10A-01D-2393-08g.chr11:65108447C>Tc.204C>Tc.(202-204)tcC>tcTp.S68S
LUAD116510894665108946+SilentSNPCCTTCGA-NJ-A4YF-01A-12D-A25L-08TCGA-NJ-A4YF-10A-01D-A25L-08g.chr11:65108946C>Tc.378C>Tc.(376-378)gaC>gaTp.D126D
LUAD116511151065111510+Nonsense_MutationSNPGGTTCGA-78-7536-01A-11D-2063-08TCGA-78-7536-10A-01D-2063-08g.chr11:65111510G>Tc.607G>Tc.(607-609)Gag>Tagp.E203*
LUAD116511318765113187+Missense_MutationSNPCCTTCGA-49-6761-01A-31D-1945-08TCGA-49-6761-11A-01D-1945-08g.chr11:65113187C>Tc.688C>Tc.(688-690)Cac>Tacp.H230Y
LUAD116511327165113271+Frame_Shift_DelDELAA-TCGA-86-A4P7-01A-11D-A24P-08TCGA-86-A4P7-10A-01D-A24P-08g.chr11:65113271delAc.772delAc.(772-774)aaafsp.K258fs
LUAD116511349165113491+Missense_MutationSNPCCTTCGA-86-A4JF-01A-11D-A24P-08TCGA-86-A4JF-10A-01D-A24P-08g.chr11:65113491C>Tc.866C>Tc.(865-867)cCc>cTcp.P289L
LUAD116511349665113496+Nonsense_MutationSNPGGTTCGA-86-A4JF-01A-11D-A24P-08TCGA-86-A4JF-10A-01D-A24P-08g.chr11:65113496G>Tc.871G>Tc.(871-873)Gag>Tagp.E291*
LUAD116511378165113781+Missense_MutationSNPAACTCGA-86-A4JF-01A-11D-A24P-08TCGA-86-A4JF-10A-01D-A24P-08g.chr11:65113781A>Cc.968A>Cc.(967-969)cAg>cCgp.Q323P
LUAD116511634865116348+Missense_MutationSNPGGATCGA-55-6986-01A-11D-1945-08TCGA-55-6986-11A-01D-1945-08g.chr11:65116348G>Ac.1045G>Ac.(1045-1047)Gat>Aatp.D349N
LUAD116511915965119173+In_Frame_DelDELTGGAGCTGCCACCTGTGGAGCTGCCACCTG-TCGA-55-7815-01A-11D-2167-08TCGA-55-7815-10A-01D-2167-08g.chr11:65119159_65119173delTGGAGCTGCCACCTGc.1105_1119delTGGAGCTGCCACCTGc.(1105-1119)tggagctgccacctgdelp.WSCHL369del
LUSC116510788965107889+SilentSNPGGATCGA-22-5473-01A-01D-1632-08TCGA-22-5473-11A-11D-1632-08g.chr11:65107889G>Ac.66G>Ac.(64-66)gaG>gaAp.E22E
LUSC116511340265113402+Splice_SiteSNPCCGTCGA-33-4566-01A-01D-1441-08TCGA-33-4566-11A-01D-1441-08g.chr11:65113402C>Gc.777C>Gc.(775-777)tcC>tcGp.S259S
LUSC116511346265113462+Missense_MutationSNPCCGTCGA-34-5927-01A-11D-1817-08TCGA-34-5927-10A-01D-1817-08g.chr11:65113462C>Gc.837C>Gc.(835-837)gaC>gaGp.D279E
LUSC116511376765113767+Missense_MutationSNPGGTTCGA-39-5027-01A-21D-1817-08TCGA-39-5027-11A-01D-1817-08g.chr11:65113767G>Tc.954G>Tc.(952-954)aaG>aaTp.K318N
OV116510847065108470+Missense_MutationSNPCCATCGA-13-1409-01A-01W-0492-08TCGA-13-1409-10A-01W-0493-08g.chr11:65108470C>Ac.227C>Ac.(226-228)gCc>gAcp.A76D
PAAD116511321365113213+SilentSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr11:65113213C>Tc.714C>Tc.(712-714)ggC>ggTp.G238G
PAAD116511374265113742+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr11:65113742C>Tc.929C>Tc.(928-930)aCc>aTcp.T310I
PAAD116511377565113775+Missense_MutationSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr11:65113775G>Ac.962G>Ac.(961-963)cGc>cAcp.R321H
PRAD116510796165107961+SilentSNPCCTTCGA-J9-A52C-01A-11D-A26M-08TCGA-J9-A52C-10A-01D-A26K-08g.chr11:65107961C>Tc.138C>Tc.(136-138)acC>acTp.T46T
READ116511372065113720+Missense_MutationSNPCCTTCGA-AG-3902-01A-01W-1073-09TCGA-AG-3902-10A-01W-1073-09g.chr11:65113720C>Tc.907C>Tc.(907-909)Cat>Tatp.H303Y
READ116511916565119165+Missense_MutationSNPTTATCGA-AG-A01Y-01A-41W-A096-10TCGA-AG-A01Y-11A-11W-A096-10g.chr11:65119165T>Ac.1111T>Ac.(1111-1113)Tgc>Agcp.C371S
SARC116510897565108975+Missense_MutationSNPCCTTCGA-QC-A7B5-01A-11D-A33E-09TCGA-QC-A7B5-11A-11D-A33H-09g.chr11:65108975C>Tc.407C>Tc.(406-408)cCc>cTcp.P136L
SARC116510897765108977+Nonsense_MutationSNPCCTTCGA-QC-A7B5-01A-11D-A33E-09TCGA-QC-A7B5-11A-11D-A33H-09g.chr11:65108977C>Tc.409C>Tc.(409-411)Cga>Tgap.R137*
SARC116511150265111502+Missense_MutationSNPCCGTCGA-FX-A3NK-01A-11D-A21Q-09TCGA-FX-A3NK-10A-01D-A21Q-09g.chr11:65111502C>Gc.599C>Gc.(598-600)tCc>tGcp.S200C
SKCM116510785665107856+Splice_SiteSNPCCTTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr11:65107856C>Tc.33C>Tc.(31-33)ctC>ctTp.L11L
SKCM116510852465108524+Missense_MutationSNPCCTTCGA-GN-A266-06A-11D-A197-08TCGA-GN-A266-10A-01D-A199-08g.chr11:65108524C>Tc.281C>Tc.(280-282)tCc>tTcp.S94F
SKCM116510897465108974+Missense_MutationSNPCCTTCGA-EE-A29Q-06A-11D-A197-08TCGA-EE-A29Q-10A-01D-A199-08g.chr11:65108974C>Tc.406C>Tc.(406-408)Ccc>Tccp.P136S
SKCM116511324465113244+Missense_MutationSNPCCTTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr11:65113244C>Tc.745C>Tc.(745-747)Cct>Tctp.P249S
SKCM116511382065113820+Missense_MutationSNPCCTTCGA-EE-A3AA-06A-11D-A196-08TCGA-EE-A3AA-10A-01D-A198-08g.chr11:65113820C>Tc.1007C>Tc.(1006-1008)tCc>tTcp.S336F
SKCM116511920365119203+SilentSNPCCTTCGA-EE-A2MR-06A-11D-A196-08TCGA-EE-A2MR-10A-01D-A198-08g.chr11:65119203C>Tc.1149C>Tc.(1147-1149)tcC>tcTp.S383S
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
ALL-US116510849065108490single base substitutionCTexon_variant
ALL-US116510849065108490single base substitutionCTmissense_variantR83W247C>T
ALL-US116510849065108490single base substitutionCTupstream_gene_variant
BLCA-CN116511352765113527single base substitutionCGdownstream_gene_variant
BLCA-CN116511352765113527single base substitutionCGexon_variant
BLCA-CN116511352765113527single base substitutionCGintron_variant
BLCA-CN116511352765113527single base substitutionCGmissense_variantQ64E190C>G
BLCA-CN116511352765113527single base substitutionCGsplice_region_variant
BLCA-CN116511352765113527single base substitutionCGstop_gainedS301*902C>G
BLCA-CN116511352765113527single base substitutionCGstop_gainedS315*944C>G
BLCA-US116512392765123927single base substitutionCTdownstream_gene_variant
BLCA-US116512416265124162deletion of <=200bpC-downstream_gene_variant
BLCA-US116512455865124558deletion of <=200bpC-downstream_gene_variant
BRCA-EU116509625365096253single base substitutionTCupstream_gene_variant
BRCA-EU116509633965096339single base substitutionCAupstream_gene_variant
BRCA-EU116509720965097209single base substitutionAGupstream_gene_variant
BRCA-EU116509771765097717single base substitutionGCupstream_gene_variant
BRCA-EU116509838365098383single base substitutionGAupstream_gene_variant
BRCA-EU116509865065098650single base substitutionGAupstream_gene_variant
BRCA-EU116509905665099056single base substitutionACupstream_gene_variant
BRCA-EU116509916065099160single base substitutionCTupstream_gene_variant
BRCA-EU116509945265099452single base substitutionATupstream_gene_variant
BRCA-EU116510151965101519single base substitutionGCintron_variant
BRCA-EU116510327765103277single base substitutionATintron_variant
BRCA-EU116510328565103285deletion of <=200bpT-intron_variant
BRCA-EU116510635365106353single base substitutionCGintron_variant
BRCA-EU116510635365106353single base substitutionCGupstream_gene_variant
BRCA-EU116510658865106588single base substitutionAGintron_variant
BRCA-EU116510658865106588single base substitutionAGupstream_gene_variant
BRCA-EU116510894065108940single base substitutionCTexon_variant
BRCA-EU116510894065108940single base substitutionCTintron_variant
BRCA-EU116510894065108940single base substitutionCTsynonymous_variantR124R372C>T
BRCA-EU116510894065108940single base substitutionCTupstream_gene_variant
BRCA-EU116510991865109918single base substitutionGAdownstream_gene_variant
BRCA-EU116510991865109918single base substitutionGAintron_variant
BRCA-EU116510991865109918single base substitutionGAupstream_gene_variant
BRCA-EU116511031165110311single base substitutionGAdownstream_gene_variant
BRCA-EU116511031165110311single base substitutionGAintron_variant
BRCA-EU116511031165110311single base substitutionGAupstream_gene_variant
BRCA-EU116511213365112133single base substitutionCAdownstream_gene_variant
BRCA-EU116511213365112133single base substitutionCAexon_variant
BRCA-EU116511213365112133single base substitutionCAintron_variant
BRCA-EU116511213365112133single base substitutionCAupstream_gene_variant
BRCA-EU116511345965113459single base substitutionGTdownstream_gene_variant
BRCA-EU116511345965113459single base substitutionGTexon_variant
BRCA-EU116511345965113459single base substitutionGTintron_variant
BRCA-EU116511345965113459single base substitutionGTmissense_variantG41V122G>T
BRCA-EU116511345965113459single base substitutionGTsynonymous_variantG278G834G>T
BRCA-EU116511345965113459single base substitutionGTsynonymous_variantG292G876G>T
BRCA-EU116511382865113828single base substitutionGAdownstream_gene_variant
BRCA-EU116511382865113828single base substitutionGAexon_variant
BRCA-EU116511382865113828single base substitutionGAintron_variant
BRCA-EU116511382865113828single base substitutionGAmissense_variantD339N1015G>A
BRCA-EU116511382865113828single base substitutionGAmissense_variantD353N1057G>A
BRCA-EU116511382865113828single base substitutionGAsplice_region_variant
BRCA-EU116511469165114691single base substitutionGAdownstream_gene_variant
BRCA-EU116511469165114691single base substitutionGAexon_variant
BRCA-EU116511469165114691single base substitutionGAintron_variant
BRCA-EU116511612165116121single base substitutionACdownstream_gene_variant
BRCA-EU116511612165116121single base substitutionACexon_variant
BRCA-EU116511612165116121single base substitutionACintron_variant
BRCA-EU116511627065116270single base substitutionGCdownstream_gene_variant
BRCA-EU116511627065116270single base substitutionGCexon_variant
BRCA-EU116511627065116270single base substitutionGCintron_variant
BRCA-EU116511668965116689single base substitutionCTdownstream_gene_variant
BRCA-EU116511668965116689single base substitutionCTintron_variant
BRCA-EU116511767165117671single base substitutionCGdownstream_gene_variant
BRCA-EU116511767165117671single base substitutionCGintron_variant
BRCA-EU116511808265118082single base substitutionGTdownstream_gene_variant
BRCA-EU116511808265118082single base substitutionGTintron_variant
BRCA-EU116511818565118185single base substitutionGAdownstream_gene_variant
BRCA-EU116511818565118185single base substitutionGAintron_variant
BRCA-EU116511888465118884single base substitutionTAintron_variant
BRCA-EU116512102765121027single base substitutionTGdownstream_gene_variant
BRCA-EU116512334065123340single base substitutionCTdownstream_gene_variant
BRCA-EU116512341165123411single base substitutionGAdownstream_gene_variant
BRCA-EU116512401665124016single base substitutionGAdownstream_gene_variant
BRCA-EU116512561365125613insertion of <=200bp-Gdownstream_gene_variant
BRCA-FR116509625365096253single base substitutionTCupstream_gene_variant
BRCA-FR116509638165096381single base substitutionTCupstream_gene_variant
BRCA-FR116510077365100773single base substitutionTCupstream_gene_variant
BRCA-FR116510759165107591single base substitutionCTintron_variant
BRCA-FR116510759165107591single base substitutionCTupstream_gene_variant
BRCA-FR116510991865109918single base substitutionGAdownstream_gene_variant
BRCA-FR116510991865109918single base substitutionGAintron_variant
BRCA-FR116510991865109918single base substitutionGAupstream_gene_variant
BRCA-FR116511627065116270single base substitutionGCdownstream_gene_variant
BRCA-FR116511627065116270single base substitutionGCexon_variant
BRCA-FR116511627065116270single base substitutionGCintron_variant
BRCA-FR116512102765121027single base substitutionTGdownstream_gene_variant
BRCA-UK116511031165110311single base substitutionGAdownstream_gene_variant
BRCA-UK116511031165110311single base substitutionGAintron_variant
BRCA-UK116511031165110311single base substitutionGAupstream_gene_variant
BRCA-UK116511469165114691single base substitutionGAdownstream_gene_variant
BRCA-UK116511469165114691single base substitutionGAexon_variant
BRCA-UK116511469165114691single base substitutionGAintron_variant
BRCA-US116510785565107855single base substitutionGTintron_variant
BRCA-US116510785565107855single base substitutionGTsplice_acceptor_variant
BRCA-US116510785565107855single base substitutionGTupstream_gene_variant
BRCA-US116511378865113788single base substitutionCTdownstream_gene_variant
BRCA-US116511378865113788single base substitutionCTexon_variant
BRCA-US116511378865113788single base substitutionCTintron_variant
BRCA-US116511378865113788single base substitutionCTsynonymous_variantI325I975C>T
BRCA-US116511378865113788single base substitutionCTsynonymous_variantI339I1017C>T
BRCA-US116511638065116380single base substitutionGAdownstream_gene_variant
BRCA-US116511638065116380single base substitutionGAexon_variant
BRCA-US116511638065116380single base substitutionGAsynonymous_variantP175P525G>A
BRCA-US116511638065116380single base substitutionGAsynonymous_variantP359P1077G>A
BRCA-US116511638065116380single base substitutionGAsynonymous_variantP373P1119G>A
BRCA-US116511638065116380single base substitutionGAsynonymous_variantP84P252G>A
BRCA-US116512336365123363single base substitutionGTdownstream_gene_variant
BRCA-US116512402065124021deletion of <=200bpGG-downstream_gene_variant
BRCA-US116512403865124038single base substitutionCTdownstream_gene_variant
BRCA-US116512454165124541single base substitutionGAdownstream_gene_variant
BRCA-US116512465365124653single base substitutionCAdownstream_gene_variant
BRCA-US116512466365124663single base substitutionGCdownstream_gene_variant
BTCA-JP116510157965101579single base substitutionCTintron_variant
BTCA-JP116510794665107946single base substitutionCAexon_variant
BTCA-JP116510794665107946single base substitutionCAintron_variant
BTCA-JP116510794665107946single base substitutionCAmissense_variantF41L123C>A
BTCA-JP116510794665107946single base substitutionCAupstream_gene_variant
BTCA-JP116511338965113397deletion of <=200bpTTCTCTCTG-downstream_gene_variant
BTCA-JP116511338965113397deletion of <=200bpTTCTCTCTG-exon_variant
BTCA-JP116511338965113397deletion of <=200bpTTCTCTCTG-intron_variant
BTCA-JP116511338965113397deletion of <=200bpTTCTCTCTG-splice_region_variant
BTCA-JP116511635165116351single base substitutionCTdownstream_gene_variant
BTCA-JP116511635165116351single base substitutionCTexon_variant
BTCA-JP116511635165116351single base substitutionCTmissense_variantR166C496C>T
BTCA-JP116511635165116351single base substitutionCTmissense_variantR350C1048C>T
BTCA-JP116511635165116351single base substitutionCTmissense_variantR364C1090C>T
BTCA-JP116511635165116351single base substitutionCTmissense_variantR75C223C>T
BTCA-JP116512323165123231single base substitutionAGdownstream_gene_variant
BTCA-JP116512383265123832single base substitutionGTdownstream_gene_variant
CESC-US116511208865112088single base substitutionGCdownstream_gene_variant
CESC-US116511208865112088single base substitutionGCexon_variant
CESC-US116511208865112088single base substitutionGCintron_variant
CESC-US116511208865112088single base substitutionGCmissense_variantQ225H675G>C
CESC-US116511208865112088single base substitutionGCupstream_gene_variant
CESC-US116512438165124381single base substitutionGAdownstream_gene_variant
CESC-US116512440065124400single base substitutionCAdownstream_gene_variant
CLLE-ES116509886865098868single base substitutionTAupstream_gene_variant
CLLE-ES116511316465113164single base substitutionCT3_prime_UTR_variant
CLLE-ES116511316465113164single base substitutionCTdownstream_gene_variant
CLLE-ES116511316465113164single base substitutionCTexon_variant
CLLE-ES116511316465113164single base substitutionCTintron_variant
CLLE-ES116511316465113164single base substitutionCTmissense_variantP222L665C>T
CLLE-ES116511316465113164single base substitutionCTmissense_variantP236L707C>T
CLLE-ES116511316465113164single base substitutionCTupstream_gene_variant
CLLE-ES116511530965115309single base substitutionGAdownstream_gene_variant
CLLE-ES116511530965115309single base substitutionGAexon_variant
CLLE-ES116511530965115309single base substitutionGAintron_variant
CLLE-ES116511535565115355single base substitutionGCdownstream_gene_variant
CLLE-ES116511535565115355single base substitutionGCexon_variant
CLLE-ES116511535565115355single base substitutionGCintron_variant
COAD-US116511326065113260single base substitutionCAdownstream_gene_variant
COAD-US116511326065113260single base substitutionCAexon_variant
COAD-US116511326065113260single base substitutionCAintron_variant
COAD-US116511326065113260single base substitutionCAmissense_variantL17M49C>A
COAD-US116511326065113260single base substitutionCAmissense_variantS254Y761C>A
COAD-US116511326065113260single base substitutionCAmissense_variantS268Y803C>A
COAD-US116511348265113482single base substitutionCTdownstream_gene_variant
COAD-US116511348265113482single base substitutionCTexon_variant
COAD-US116511348265113482single base substitutionCTintron_variant
COAD-US116511348265113482single base substitutionCTmissense_variantR49W145C>T
COAD-US116511348265113482single base substitutionCTmissense_variantT286M857C>T
COAD-US116511348265113482single base substitutionCTmissense_variantT300M899C>T
COAD-US116511351765113518deletion of <=200bpTG-downstream_gene_variant
COAD-US116511351765113518deletion of <=200bpTG-exon_variant
COAD-US116511351765113518deletion of <=200bpTG-frameshift_variantC298
COAD-US116511351765113518deletion of <=200bpTG-frameshift_variantC312
COAD-US116511351765113518deletion of <=200bpTG-frameshift_variantTV60
COAD-US116511351765113518deletion of <=200bpTG-intron_variant
COAD-US116511374365113743single base substitutionCTdownstream_gene_variant
COAD-US116511374365113743single base substitutionCTexon_variant
COAD-US116511374365113743single base substitutionCTintron_variant
COAD-US116511374365113743single base substitutionCTsynonymous_variantT310T930C>T
COAD-US116511374365113743single base substitutionCTsynonymous_variantT324T972C>T
COAD-US116511381265113812single base substitutionCTdownstream_gene_variant
COAD-US116511381265113812single base substitutionCTexon_variant
COAD-US116511381265113812single base substitutionCTintron_variant
COAD-US116511381265113812single base substitutionCTsynonymous_variantC333C999C>T
COAD-US116511381265113812single base substitutionCTsynonymous_variantC347C1041C>T
COAD-US116512375465123754single base substitutionCAdownstream_gene_variant
COAD-US116512378065123780single base substitutionCAdownstream_gene_variant
COAD-US116512390765123907single base substitutionCTdownstream_gene_variant
COAD-US116512421365124213single base substitutionCAdownstream_gene_variant
COAD-US116512466865124668single base substitutionGTdownstream_gene_variant
COCA-CN116509658965096589single base substitutionGTupstream_gene_variant
COCA-CN116509936365099363single base substitutionCAupstream_gene_variant
COCA-CN116510871765108717single base substitutionTGintron_variant
COCA-CN116510871765108717single base substitutionTGupstream_gene_variant
COCA-CN116511443765114437single base substitutionTGdownstream_gene_variant
COCA-CN116511443765114437single base substitutionTGexon_variant
COCA-CN116511443765114437single base substitutionTGintron_variant
COCA-CN116511458865114588single base substitutionTCdownstream_gene_variant
COCA-CN116511458865114588single base substitutionTCexon_variant
COCA-CN116511458865114588single base substitutionTCintron_variant
COCA-CN116511458965114589single base substitutionGCdownstream_gene_variant
COCA-CN116511458965114589single base substitutionGCexon_variant
COCA-CN116511458965114589single base substitutionGCintron_variant
COCA-CN116512435665124356single base substitutionCAdownstream_gene_variant
COCA-CN116512467965124679single base substitutionGTdownstream_gene_variant
EOPC-DE116511486865114868single base substitutionTGdownstream_gene_variant
EOPC-DE116511486865114868single base substitutionTGexon_variant
EOPC-DE116511486865114868single base substitutionTGintron_variant
ESAD-UK116509755965097559single base substitutionTGupstream_gene_variant
ESAD-UK116509861865098618insertion of <=200bp-CGGGupstream_gene_variant
ESAD-UK116509920265099202single base substitutionCTupstream_gene_variant
ESAD-UK116509988265099882insertion of <=200bp-AAACupstream_gene_variant
ESAD-UK116510050465100504single base substitutionGAupstream_gene_variant
ESAD-UK116510093965100939single base substitutionTGupstream_gene_variant
ESAD-UK116510296265102962single base substitutionAGintron_variant
ESAD-UK116510645765106457single base substitutionTCintron_variant
ESAD-UK116510645765106457single base substitutionTCupstream_gene_variant
ESAD-UK116510843665108436single base substitutionGAsplice_acceptor_variant
ESAD-UK116510843665108436single base substitutionGAupstream_gene_variant
ESAD-UK116510869865108698single base substitutionGAintron_variant
ESAD-UK116510869865108698single base substitutionGAupstream_gene_variant
ESAD-UK116510903965109039single base substitutionGTexon_variant
ESAD-UK116510903965109039single base substitutionGTintron_variant
ESAD-UK116510903965109039single base substitutionGTsplice_region_variant
ESAD-UK116510903965109039single base substitutionGTupstream_gene_variant
ESAD-UK116510910865109108single base substitutionCAexon_variant
ESAD-UK116510910865109108single base substitutionCAintron_variant
ESAD-UK116510910865109108single base substitutionCAupstream_gene_variant
ESAD-UK116510930565109305single base substitutionATexon_variant
ESAD-UK116510930565109305single base substitutionATintron_variant
ESAD-UK116510930565109305single base substitutionATupstream_gene_variant
ESAD-UK116511101065111010single base substitutionGAdownstream_gene_variant
ESAD-UK116511101065111010single base substitutionGAexon_variant
ESAD-UK116511101065111010single base substitutionGAintron_variant
ESAD-UK116511101065111010single base substitutionGAupstream_gene_variant
ESAD-UK116511108265111082single base substitutionGAdownstream_gene_variant
ESAD-UK116511108265111082single base substitutionGAexon_variant
ESAD-UK116511108265111082single base substitutionGAintron_variant
ESAD-UK116511108265111082single base substitutionGAupstream_gene_variant
ESAD-UK116511204065112040single base substitutionCTdownstream_gene_variant
ESAD-UK116511204065112040single base substitutionCTexon_variant
ESAD-UK116511204065112040single base substitutionCTintron_variant
ESAD-UK116511204065112040single base substitutionCTupstream_gene_variant
ESAD-UK116511372065113720single base substitutionCTdownstream_gene_variant
ESAD-UK116511372065113720single base substitutionCTexon_variant
ESAD-UK116511372065113720single base substitutionCTintron_variant
ESAD-UK116511372065113720single base substitutionCTmissense_variantH303Y907C>T
ESAD-UK116511372065113720single base substitutionCTmissense_variantH317Y949C>T
ESAD-UK116511372065113720single base substitutionCTsplice_region_variant
ESAD-UK116511499065114990single base substitutionGCdownstream_gene_variant
ESAD-UK116511499065114990single base substitutionGCexon_variant
ESAD-UK116511499065114990single base substitutionGCintron_variant
ESAD-UK116511870465118704deletion of <=200bpA-intron_variant
ESAD-UK116511994965119949single base substitutionCT3_prime_UTR_variant
ESAD-UK116511994965119949single base substitutionCTexon_variant
ESAD-UK116512363365123633single base substitutionGTdownstream_gene_variant
ESAD-UK116512396165123961single base substitutionAGdownstream_gene_variant
ESCA-CN116512393965123939single base substitutionGAdownstream_gene_variant
GBM-US116510793665107936single base substitutionGAexon_variant
GBM-US116510793665107936single base substitutionGAintron_variant
GBM-US116510793665107936single base substitutionGAmissense_variantR38H113G>A
GBM-US116510793665107936single base substitutionGAupstream_gene_variant
GBM-US116512453965124539single base substitutionCGdownstream_gene_variant
KIRC-US116511342065113420single base substitutionACdownstream_gene_variant
KIRC-US116511342065113420single base substitutionACexon_variant
KIRC-US116511342065113420single base substitutionACintron_variant
KIRC-US116511342065113420single base substitutionACmissense_variantD28A83A>C
KIRC-US116511342065113420single base substitutionACsynonymous_variantG265G795A>C
KIRC-US116511342065113420single base substitutionACsynonymous_variantG279G837A>C
KIRP-US116510795665107956single base substitutionCGexon_variant
KIRP-US116510795665107956single base substitutionCGintron_variant
KIRP-US116510795665107956single base substitutionCGmissense_variantQ45E133C>G
KIRP-US116510795665107956single base substitutionCGupstream_gene_variant
KIRP-US116511319865113198single base substitutionGAdownstream_gene_variant
KIRP-US116511319865113198single base substitutionGAexon_variant
KIRP-US116511319865113198single base substitutionGAintron_variant
KIRP-US116511319865113198single base substitutionGAsynonymous_variantL233L699G>A
KIRP-US116511319865113198single base substitutionGAsynonymous_variantL247L741G>A
KIRP-US116511319865113198single base substitutionGAupstream_gene_variant
KIRP-US116511343965113439single base substitutionTCdownstream_gene_variant
KIRP-US116511343965113439single base substitutionTCexon_variant
KIRP-US116511343965113439single base substitutionTCintron_variant
KIRP-US116511343965113439single base substitutionTCmissense_variantY272H814T>C
KIRP-US116511343965113439single base substitutionTCmissense_variantY286H856T>C
KIRP-US116511343965113439single base substitutionTCsynonymous_variantT34T102T>C
LAML-KR116510028665100286single base substitutionACupstream_gene_variant
LAML-KR116512283065122830single base substitutionACdownstream_gene_variant
LICA-CN116510850965108509single base substitutionATexon_variant
LICA-CN116510850965108509single base substitutionATmissense_variantE89V266A>T
LICA-CN116510850965108509single base substitutionATupstream_gene_variant
LICA-CN116511378965113789single base substitutionGAdownstream_gene_variant
LICA-CN116511378965113789single base substitutionGAexon_variant
LICA-CN116511378965113789single base substitutionGAintron_variant
LICA-CN116511378965113789single base substitutionGAmissense_variantE326K976G>A
LICA-CN116511378965113789single base substitutionGAmissense_variantE340K1018G>A
LICA-CN116512406365124063single base substitutionGTdownstream_gene_variant
LICA-FR116510048965100489single base substitutionCTupstream_gene_variant
LICA-FR116510896365108963single base substitutionGAexon_variant
LICA-FR116510896365108963single base substitutionGAintron_variant
LICA-FR116510896365108963single base substitutionGAmissense_variantG132D395G>A
LICA-FR116510896365108963single base substitutionGAupstream_gene_variant
LIHC-US116511128665111286single base substitutionGA3_prime_UTR_variant
LIHC-US116511128665111286single base substitutionGAdownstream_gene_variant
LIHC-US116511128665111286single base substitutionGAexon_variant
LIHC-US116511128665111286single base substitutionGAintron_variant
LIHC-US116511128665111286single base substitutionGAmissense_variantR179H536G>A
LIHC-US116511128665111286single base substitutionGAupstream_gene_variant
LIHC-US116511318065113180single base substitutionCGdownstream_gene_variant
LIHC-US116511318065113180single base substitutionCGexon_variant
LIHC-US116511318065113180single base substitutionCGintron_variant
LIHC-US116511318065113180single base substitutionCGmissense_variantH227Q681C>G
LIHC-US116511318065113180single base substitutionCGmissense_variantH241Q723C>G
LIHC-US116511318065113180single base substitutionCGupstream_gene_variant
LIHC-US116511635165116351single base substitutionCGdownstream_gene_variant
LIHC-US116511635165116351single base substitutionCGexon_variant
LIHC-US116511635165116351single base substitutionCGmissense_variantR166G496C>G
LIHC-US116511635165116351single base substitutionCGmissense_variantR350G1048C>G
LIHC-US116511635165116351single base substitutionCGmissense_variantR364G1090C>G
LIHC-US116511635165116351single base substitutionCGmissense_variantR75G223C>G
LINC-JP116510059265100592single base substitutionCTupstream_gene_variant
LINC-JP116510840565108405single base substitutionGAintron_variant
LINC-JP116510840565108405single base substitutionGAupstream_gene_variant
LINC-JP116510923365109233single base substitutionACexon_variant
LINC-JP116510923365109233single base substitutionACintron_variant
LINC-JP116510923365109233single base substitutionACupstream_gene_variant
LINC-JP116511136565111365single base substitutionAGdownstream_gene_variant
LINC-JP116511136565111365single base substitutionAGintron_variant
LINC-JP116511136565111365single base substitutionAGupstream_gene_variant
LINC-JP116511161765111618deletion of <=200bpTG-downstream_gene_variant
LINC-JP116511161765111618deletion of <=200bpTG-intron_variant
LINC-JP116511161765111618deletion of <=200bpTG-upstream_gene_variant
LINC-JP116511188065111880single base substitutionCTdownstream_gene_variant
LINC-JP116511188065111880single base substitutionCTexon_variant
LINC-JP116511188065111880single base substitutionCTintron_variant
LINC-JP116511188065111880single base substitutionCTupstream_gene_variant
LINC-JP116511353265113532single base substitutionACdownstream_gene_variant
LINC-JP116511353265113532single base substitutionACexon_variant
LINC-JP116511353265113532single base substitutionACintron_variant
LINC-JP116511353265113532single base substitutionACsplice_region_variant
LINC-JP116511480065114800single base substitutionAGdownstream_gene_variant
LINC-JP116511480065114800single base substitutionAGexon_variant
LINC-JP116511480065114800single base substitutionAGintron_variant
LINC-JP116511643265116432single base substitutionAGdownstream_gene_variant
LINC-JP116511643265116432single base substitutionAGintron_variant
LINC-JP116512157265121572single base substitutionGAdownstream_gene_variant
LINC-JP116512319765123197single base substitutionTAdownstream_gene_variant
LIRI-JP116510008665100086single base substitutionTCupstream_gene_variant
LIRI-JP116510208965102089single base substitutionGCintron_variant
LIRI-JP116510214965102149single base substitutionGAintron_variant
LIRI-JP116510215565102155single base substitutionGAintron_variant
LIRI-JP116510224465102244single base substitutionAGintron_variant
LIRI-JP116510240565102405single base substitutionACintron_variant
LIRI-JP116510282965102829single base substitutionACintron_variant
LIRI-JP116510350565103505single base substitutionGCintron_variant
LIRI-JP116510531065105310single base substitutionTCintron_variant
LIRI-JP116510531065105310single base substitutionTCupstream_gene_variant
LIRI-JP116510607365106073single base substitutionATintron_variant
LIRI-JP116510607365106073single base substitutionATupstream_gene_variant
LIRI-JP116510620365106203single base substitutionTCintron_variant
LIRI-JP116510620365106203single base substitutionTCupstream_gene_variant
LIRI-JP116510687265106884deletion of <=200bpTTCCACTTAAAGA-intron_variant
LIRI-JP116510687265106884deletion of <=200bpTTCCACTTAAAGA-upstream_gene_variant
LIRI-JP116510711865107118single base substitutionAGintron_variant
LIRI-JP116510711865107118single base substitutionAGupstream_gene_variant
LIRI-JP116510720065107200single base substitutionAGintron_variant
LIRI-JP116510720065107200single base substitutionAGupstream_gene_variant
LIRI-JP116510993865109938single base substitutionTGdownstream_gene_variant
LIRI-JP116510993865109938single base substitutionTGintron_variant
LIRI-JP116510993865109938single base substitutionTGupstream_gene_variant
LIRI-JP116511006965110069single base substitutionAGdownstream_gene_variant
LIRI-JP116511006965110069single base substitutionAGintron_variant
LIRI-JP116511006965110069single base substitutionAGupstream_gene_variant
LIRI-JP116511090165110901single base substitutionGAdownstream_gene_variant
LIRI-JP116511090165110901single base substitutionGAintron_variant
LIRI-JP116511090165110901single base substitutionGAupstream_gene_variant
LIRI-JP116511318465113184single base substitutionGTdownstream_gene_variant
LIRI-JP116511318465113184single base substitutionGTexon_variant
LIRI-JP116511318465113184single base substitutionGTintron_variant
LIRI-JP116511318465113184single base substitutionGTmissense_variantA229S685G>T
LIRI-JP116511318465113184single base substitutionGTmissense_variantA243S727G>T
LIRI-JP116511318465113184single base substitutionGTupstream_gene_variant
LIRI-JP116511318565113185single base substitutionCTdownstream_gene_variant
LIRI-JP116511318565113185single base substitutionCTexon_variant
LIRI-JP116511318565113185single base substitutionCTintron_variant
LIRI-JP116511318565113185single base substitutionCTmissense_variantA229V686C>T
LIRI-JP116511318565113185single base substitutionCTmissense_variantA243V728C>T
LIRI-JP116511318565113185single base substitutionCTupstream_gene_variant
LIRI-JP116511474565114745single base substitutionAGdownstream_gene_variant
LIRI-JP116511474565114745single base substitutionAGexon_variant
LIRI-JP116511474565114745single base substitutionAGintron_variant
LIRI-JP116511512065115120single base substitutionAGdownstream_gene_variant
LIRI-JP116511512065115120single base substitutionAGexon_variant
LIRI-JP116511512065115120single base substitutionAGintron_variant
LIRI-JP116511748865117488single base substitutionGAdownstream_gene_variant
LIRI-JP116511748865117488single base substitutionGAintron_variant
LIRI-JP116511791265117912single base substitutionCGdownstream_gene_variant
LIRI-JP116511791265117912single base substitutionCGintron_variant
LIRI-JP116512073165120731single base substitutionTCdownstream_gene_variant
LIRI-JP116512130765121307single base substitutionGTdownstream_gene_variant
LIRI-JP116512391165123911single base substitutionTGdownstream_gene_variant
LIRI-JP116512525965125259single base substitutionCAdownstream_gene_variant
LUSC-KR116509913465099134single base substitutionCAupstream_gene_variant
LUSC-KR116511387565113875single base substitutionTGdownstream_gene_variant
LUSC-KR116511387565113875single base substitutionTGexon_variant
LUSC-KR116511387565113875single base substitutionTGintron_variant
LUSC-KR116511635865116358single base substitutionATdownstream_gene_variant
LUSC-KR116511635865116358single base substitutionATexon_variant
LUSC-KR116511635865116358single base substitutionATmissense_variantY168F503A>T
LUSC-KR116511635865116358single base substitutionATmissense_variantY352F1055A>T
LUSC-KR116511635865116358single base substitutionATmissense_variantY366F1097A>T
LUSC-KR116511635865116358single base substitutionATmissense_variantY77F230A>T
LUSC-KR116512282365122823single base substitutionACdownstream_gene_variant
LUSC-KR116512473965124739single base substitutionCAdownstream_gene_variant
LUSC-US116510788965107889single base substitutionGAexon_variant
LUSC-US116510788965107889single base substitutionGAintron_variant
LUSC-US116510788965107889single base substitutionGAsynonymous_variantE22E66G>A
LUSC-US116510788965107889single base substitutionGAupstream_gene_variant
LUSC-US116511340265113402single base substitutionCGdownstream_gene_variant
LUSC-US116511340265113402single base substitutionCGexon_variant
LUSC-US116511340265113402single base substitutionCGintron_variant
LUSC-US116511340265113402single base substitutionCGmissense_variantP22R65C>G
LUSC-US116511340265113402single base substitutionCGsplice_region_variant
LUSC-US116511346265113462single base substitutionCGdownstream_gene_variant
LUSC-US116511346265113462single base substitutionCGexon_variant
LUSC-US116511346265113462single base substitutionCGintron_variant
LUSC-US116511346265113462single base substitutionCGmissense_variantD279E837C>G
LUSC-US116511346265113462single base substitutionCGmissense_variantD293E879C>G
LUSC-US116511346265113462single base substitutionCGmissense_variantT42S125C>G
LUSC-US116511376765113767single base substitutionGTdownstream_gene_variant
LUSC-US116511376765113767single base substitutionGTexon_variant
LUSC-US116511376765113767single base substitutionGTintron_variant
LUSC-US116511376765113767single base substitutionGTmissense_variantK318N954G>T
LUSC-US116511376765113767single base substitutionGTmissense_variantK332N996G>T
LUSC-US116512345165123451single base substitutionGTdownstream_gene_variant
LUSC-US116512381765123817single base substitutionTAdownstream_gene_variant
LUSC-US116512424965124249single base substitutionGAdownstream_gene_variant
LUSC-US116512439065124390single base substitutionCAdownstream_gene_variant
LUSC-US116512445365124453single base substitutionTCdownstream_gene_variant
MALY-DE116511154365111543single base substitutionGTdownstream_gene_variant
MALY-DE116511154365111543single base substitutionGTexon_variant
MALY-DE116511154365111543single base substitutionGTintron_variant
MALY-DE116511154365111543single base substitutionGTsplice_region_variant
MALY-DE116511154365111543single base substitutionGTupstream_gene_variant
MALY-DE116511236165112361single base substitutionAGdownstream_gene_variant
MALY-DE116511236165112361single base substitutionAGexon_variant
MALY-DE116511236165112361single base substitutionAGintron_variant
MALY-DE116511236165112361single base substitutionAGupstream_gene_variant
MALY-DE116511311165113111single base substitutionTGdownstream_gene_variant
MALY-DE116511311165113111single base substitutionTGexon_variant
MALY-DE116511311165113111single base substitutionTGintron_variant
MALY-DE116511311165113111single base substitutionTGupstream_gene_variant
MALY-DE116511454965114549single base substitutionATdownstream_gene_variant
MALY-DE116511454965114549single base substitutionATexon_variant
MALY-DE116511454965114549single base substitutionATintron_variant
MALY-DE116511455465114554single base substitutionCTdownstream_gene_variant
MALY-DE116511455465114554single base substitutionCTexon_variant
MALY-DE116511455465114554single base substitutionCTintron_variant
MALY-DE116511455565114555single base substitutionAGdownstream_gene_variant
MALY-DE116511455565114555single base substitutionAGexon_variant
MALY-DE116511455565114555single base substitutionAGintron_variant
MELA-AU116509638465096384single base substitutionGAupstream_gene_variant
MELA-AU116509641165096411single base substitutionCTupstream_gene_variant
MELA-AU116509680865096808single base substitutionGAupstream_gene_variant
MELA-AU116509683665096836single base substitutionCTupstream_gene_variant
MELA-AU116509693965096939single base substitutionCTupstream_gene_variant
MELA-AU116509727265097272single base substitutionCTupstream_gene_variant
MELA-AU116509739665097396single base substitutionGAupstream_gene_variant
MELA-AU116509740665097406single base substitutionCTupstream_gene_variant
MELA-AU116509782765097827single base substitutionGAupstream_gene_variant
MELA-AU116509797665097976single base substitutionGAupstream_gene_variant
MELA-AU116509924365099243single base substitutionCGupstream_gene_variant
MELA-AU116509935165099351single base substitutionGAupstream_gene_variant
MELA-AU116510001065100010single base substitutionCTupstream_gene_variant
MELA-AU116510017965100179single base substitutionCTupstream_gene_variant
MELA-AU116510135365101353single base substitutionGA5_prime_UTR_variant
MELA-AU116510135365101353single base substitutionGAexon_variant
MELA-AU116510243365102433single base substitutionCTintron_variant
MELA-AU116510406365104063single base substitutionCTintron_variant
MELA-AU116510406365104063single base substitutionCTupstream_gene_variant
MELA-AU116510419765104197single base substitutionTCintron_variant
MELA-AU116510419765104197single base substitutionTCupstream_gene_variant
MELA-AU116510438665104386single base substitutionCTintron_variant
MELA-AU116510438665104386single base substitutionCTupstream_gene_variant
MELA-AU116510467165104671single base substitutionCTintron_variant
MELA-AU116510467165104671single base substitutionCTupstream_gene_variant
MELA-AU116510499165104991single base substitutionGAintron_variant
MELA-AU116510499165104991single base substitutionGAupstream_gene_variant
MELA-AU116510540265105402single base substitutionCGintron_variant
MELA-AU116510540265105402single base substitutionCGupstream_gene_variant
MELA-AU116510602665106026single base substitutionTCintron_variant
MELA-AU116510602665106026single base substitutionTCupstream_gene_variant
MELA-AU116510610565106105single base substitutionCTintron_variant
MELA-AU116510610565106105single base substitutionCTupstream_gene_variant
MELA-AU116510661865106619multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU116510661865106619multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU116510668765106687single base substitutionGTintron_variant
MELA-AU116510668765106687single base substitutionGTupstream_gene_variant
MELA-AU116510725965107259single base substitutionCTintron_variant
MELA-AU116510725965107259single base substitutionCTupstream_gene_variant
MELA-AU116510745765107458multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU116510745765107458multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU116510846165108461single base substitutionCTexon_variant
MELA-AU116510846165108461single base substitutionCTmissense_variantS73F218C>T
MELA-AU116510846165108461single base substitutionCTupstream_gene_variant
MELA-AU116510847565108475single base substitutionCTexon_variant
MELA-AU116510847565108475single base substitutionCTmissense_variantR78C232C>T
MELA-AU116510847565108475single base substitutionCTupstream_gene_variant
MELA-AU116510867165108671single base substitutionCTintron_variant
MELA-AU116510867165108671single base substitutionCTupstream_gene_variant
MELA-AU116510900765109007single base substitutionCTexon_variant
MELA-AU116510900765109007single base substitutionCTintron_variant
MELA-AU116510900765109007single base substitutionCTmissense_variantP147S439C>T
MELA-AU116510900765109007single base substitutionCTupstream_gene_variant
MELA-AU116511000265110002single base substitutionTCdownstream_gene_variant
MELA-AU116511000265110002single base substitutionTCintron_variant
MELA-AU116511000265110002single base substitutionTCupstream_gene_variant
MELA-AU116511052065110520single base substitutionCTdownstream_gene_variant
MELA-AU116511052065110520single base substitutionCTintron_variant
MELA-AU116511052065110520single base substitutionCTupstream_gene_variant
MELA-AU116511061565110615single base substitutionCTdownstream_gene_variant
MELA-AU116511061565110615single base substitutionCTintron_variant
MELA-AU116511061565110615single base substitutionCTupstream_gene_variant
MELA-AU116511079865110798single base substitutionCTdownstream_gene_variant
MELA-AU116511079865110798single base substitutionCTintron_variant
MELA-AU116511079865110798single base substitutionCTupstream_gene_variant
MELA-AU116511170665111706single base substitutionCTdownstream_gene_variant
MELA-AU116511170665111706single base substitutionCTintron_variant
MELA-AU116511170665111706single base substitutionCTupstream_gene_variant
MELA-AU116511190865111908single base substitutionCTdownstream_gene_variant
MELA-AU116511190865111908single base substitutionCTexon_variant
MELA-AU116511190865111908single base substitutionCTintron_variant
MELA-AU116511190865111908single base substitutionCTupstream_gene_variant
MELA-AU116511245965112459single base substitutionCTdownstream_gene_variant
MELA-AU116511245965112459single base substitutionCTexon_variant
MELA-AU116511245965112459single base substitutionCTintron_variant
MELA-AU116511245965112459single base substitutionCTupstream_gene_variant
MELA-AU116511334665113346single base substitutionTGdownstream_gene_variant
MELA-AU116511334665113346single base substitutionTGexon_variant
MELA-AU116511334665113346single base substitutionTGintron_variant
MELA-AU116511339165113391single base substitutionCTdownstream_gene_variant
MELA-AU116511339165113391single base substitutionCTexon_variant
MELA-AU116511339165113391single base substitutionCTintron_variant
MELA-AU116511382065113820single base substitutionCTdownstream_gene_variant
MELA-AU116511382065113820single base substitutionCTexon_variant
MELA-AU116511382065113820single base substitutionCTintron_variant
MELA-AU116511382065113820single base substitutionCTmissense_variantS336F1007C>T
MELA-AU116511382065113820single base substitutionCTmissense_variantS350F1049C>T
MELA-AU116511393965113939single base substitutionCTdownstream_gene_variant
MELA-AU116511393965113939single base substitutionCTexon_variant
MELA-AU116511393965113939single base substitutionCTintron_variant
MELA-AU116511483965114839single base substitutionCTdownstream_gene_variant
MELA-AU116511483965114839single base substitutionCTexon_variant
MELA-AU116511483965114839single base substitutionCTintron_variant
MELA-AU116511572865115728single base substitutionCTdownstream_gene_variant
MELA-AU116511572865115728single base substitutionCTexon_variant
MELA-AU116511572865115728single base substitutionCTintron_variant
MELA-AU116511579965115799single base substitutionCTdownstream_gene_variant
MELA-AU116511579965115799single base substitutionCTexon_variant
MELA-AU116511579965115799single base substitutionCTintron_variant
MELA-AU116511634865116348single base substitutionGAdownstream_gene_variant
MELA-AU116511634865116348single base substitutionGAexon_variant
MELA-AU116511634865116348single base substitutionGAmissense_variantD165N493G>A
MELA-AU116511634865116348single base substitutionGAmissense_variantD349N1045G>A
MELA-AU116511634865116348single base substitutionGAmissense_variantD363N1087G>A
MELA-AU116511634865116348single base substitutionGAmissense_variantD74N220G>A
MELA-AU116511637865116378single base substitutionCTdownstream_gene_variant
MELA-AU116511637865116378single base substitutionCTexon_variant
MELA-AU116511637865116378single base substitutionCTmissense_variantP175S523C>T
MELA-AU116511637865116378single base substitutionCTmissense_variantP359S1075C>T
MELA-AU116511637865116378single base substitutionCTmissense_variantP373S1117C>T
MELA-AU116511637865116378single base substitutionCTmissense_variantP84S250C>T
MELA-AU116511693165116932multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU116511693165116932multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU116511772465117724single base substitutionCTdownstream_gene_variant
MELA-AU116511772465117724single base substitutionCTintron_variant
MELA-AU116511895165118951single base substitutionCTintron_variant
MELA-AU116511910265119102single base substitutionGAintron_variant
MELA-AU116511915365119153single base substitutionGAsplice_acceptor_variant
MELA-AU116511932265119322single base substitutionCT3_prime_UTR_variant
MELA-AU116511932265119322single base substitutionCTexon_variant
MELA-AU116511936465119364single base substitutionCT3_prime_UTR_variant
MELA-AU116511936465119364single base substitutionCTexon_variant
MELA-AU116511948365119483single base substitutionCT3_prime_UTR_variant
MELA-AU116511948365119483single base substitutionCTexon_variant
MELA-AU116511959965119599single base substitutionCT3_prime_UTR_variant
MELA-AU116511959965119599single base substitutionCTexon_variant
MELA-AU116511972465119724single base substitutionCT3_prime_UTR_variant
MELA-AU116511972465119724single base substitutionCTexon_variant
MELA-AU116511977665119776single base substitutionCT3_prime_UTR_variant
MELA-AU116511977665119776single base substitutionCTexon_variant
MELA-AU116511988365119883single base substitutionCT3_prime_UTR_variant
MELA-AU116511988365119883single base substitutionCTexon_variant
MELA-AU116512047565120475single base substitutionCT3_prime_UTR_variant
MELA-AU116512047565120475single base substitutionCTdownstream_gene_variant
MELA-AU116512105665121056single base substitutionACdownstream_gene_variant
MELA-AU116512117665121176single base substitutionGAdownstream_gene_variant
MELA-AU116512151365121513single base substitutionGAdownstream_gene_variant
MELA-AU116512204965122049single base substitutionCTdownstream_gene_variant
MELA-AU116512207365122073single base substitutionCTdownstream_gene_variant
MELA-AU116512276165122761single base substitutionGAdownstream_gene_variant
MELA-AU116512276365122763single base substitutionCAdownstream_gene_variant
MELA-AU116512282365122823single base substitutionACdownstream_gene_variant
MELA-AU116512315665123157multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU116512336965123369single base substitutionCTdownstream_gene_variant
MELA-AU116512363065123630single base substitutionCTdownstream_gene_variant
MELA-AU116512371465123714single base substitutionCAdownstream_gene_variant
MELA-AU116512378365123783single base substitutionTGdownstream_gene_variant
MELA-AU116512400365124003single base substitutionCTdownstream_gene_variant
MELA-AU116512466965124669single base substitutionGAdownstream_gene_variant
MELA-AU116512471565124715single base substitutionCTdownstream_gene_variant
MELA-AU116512526865125268single base substitutionGAdownstream_gene_variant
MELA-AU116512537265125372single base substitutionGAdownstream_gene_variant
MELA-AU116512558765125587single base substitutionGAdownstream_gene_variant
ORCA-IN116512357665123576single base substitutionGTdownstream_gene_variant
ORCA-IN116512390865123908single base substitutionGTdownstream_gene_variant
ORCA-IN116512397265123972single base substitutionGTdownstream_gene_variant
OV-AU116510051565100515single base substitutionTCupstream_gene_variant
OV-AU116510132165101321single base substitutionGC5_prime_UTR_premature_start_codon_gain_variant
OV-AU116510132165101321single base substitutionGCupstream_gene_variant
OV-AU116512254065122540single base substitutionCGdownstream_gene_variant
OV-AU116512352965123529single base substitutionCGdownstream_gene_variant
OV-AU116512426565124265single base substitutionCAdownstream_gene_variant
OV-AU116512490065124900single base substitutionGAdownstream_gene_variant
OV-AU116512538965125389single base substitutionAGdownstream_gene_variant
PACA-AU116509769265097692single base substitutionCAupstream_gene_variant
PACA-AU116509813265098132single base substitutionCTupstream_gene_variant
PACA-AU116509861465098614single base substitutionGCupstream_gene_variant
PACA-AU116510054465100544single base substitutionGAupstream_gene_variant
PACA-AU116510554365105543single base substitutionATintron_variant
PACA-AU116510554365105543single base substitutionATupstream_gene_variant
PACA-AU116511221665112216single base substitutionGAdownstream_gene_variant
PACA-AU116511221665112216single base substitutionGAexon_variant
PACA-AU116511221665112216single base substitutionGAintron_variant
PACA-AU116511221665112216single base substitutionGAupstream_gene_variant
PACA-AU116511274765112747single base substitutionATdownstream_gene_variant
PACA-AU116511274765112747single base substitutionATexon_variant
PACA-AU116511274765112747single base substitutionATintron_variant
PACA-AU116511274765112747single base substitutionATupstream_gene_variant
PACA-AU116511497265114972insertion of <=200bp-Tdownstream_gene_variant
PACA-AU116511497265114972insertion of <=200bp-Texon_variant
PACA-AU116511497265114972insertion of <=200bp-Tintron_variant
PACA-CA116509645665096456insertion of <=200bp-Aupstream_gene_variant
PACA-CA116509722865097228single base substitutionTAupstream_gene_variant
PACA-CA116509824065098240deletion of <=200bpA-upstream_gene_variant
PACA-CA116509989465099896deletion of <=200bpTGT-upstream_gene_variant
PACA-CA116510580865105808single base substitutionCTintron_variant
PACA-CA116510580865105808single base substitutionCTupstream_gene_variant
PACA-CA116510651065106510single base substitutionAGintron_variant
PACA-CA116510651065106510single base substitutionAGupstream_gene_variant
PACA-CA116511358765113587single base substitutionCAdownstream_gene_variant
PACA-CA116511358765113587single base substitutionCAexon_variant
PACA-CA116511358765113587single base substitutionCAintron_variant
PACA-CA116511476465114764single base substitutionCAdownstream_gene_variant
PACA-CA116511476465114764single base substitutionCAexon_variant
PACA-CA116511476465114764single base substitutionCAintron_variant
PACA-CA116511724765117247single base substitutionACdownstream_gene_variant
PACA-CA116511724765117247single base substitutionACintron_variant
PACA-CA116511870365118703single base substitutionCAintron_variant
PACA-CA116512410365124103single base substitutionGAdownstream_gene_variant
PACA-CA116512482665124826single base substitutionGAdownstream_gene_variant
PBCA-DE116510152265101522single base substitutionAGintron_variant
PBCA-DE116510957265109572deletion of <=200bpA-downstream_gene_variant
PBCA-DE116510957265109572deletion of <=200bpA-intron_variant
PBCA-DE116510957265109572deletion of <=200bpA-upstream_gene_variant
PBCA-DE116511344665113446single base substitutionAGdownstream_gene_variant
PBCA-DE116511344665113446single base substitutionAGexon_variant
PBCA-DE116511344665113446single base substitutionAGintron_variant
PBCA-DE116511344665113446single base substitutionAGmissense_variantD274G821A>G
PBCA-DE116511344665113446single base substitutionAGmissense_variantD288G863A>G
PBCA-DE116511344665113446single base substitutionAGmissense_variantT37A109A>G
PBCA-DE116511639665116396single base substitutionCTdownstream_gene_variant
PBCA-DE116511639665116396single base substitutionCTexon_variant
PBCA-DE116511639665116396single base substitutionCTmissense_variantP181S541C>T
PBCA-DE116511639665116396single base substitutionCTmissense_variantP365S1093C>T
PBCA-DE116511639665116396single base substitutionCTmissense_variantP379S1135C>T
PBCA-DE116511639665116396single base substitutionCTmissense_variantP90S268C>T
PBCA-DE116511693965116939single base substitutionGAdownstream_gene_variant
PBCA-DE116511693965116939single base substitutionGAintron_variant
PBCA-DE116512052965120529insertion of <=200bp-T3_prime_UTR_variant
PBCA-DE116512052965120529insertion of <=200bp-Tdownstream_gene_variant
PRAD-CA116510047165100471single base substitutionTCupstream_gene_variant
PRAD-CA116511727065117270single base substitutionGAdownstream_gene_variant
PRAD-CA116511727065117270single base substitutionGAintron_variant
PRAD-UK116509805465098054single base substitutionCTupstream_gene_variant
PRAD-UK116510541565105415deletion of <=200bpA-intron_variant
PRAD-UK116510541565105415deletion of <=200bpA-upstream_gene_variant
PRAD-UK116510723065107230single base substitutionCGintron_variant
PRAD-UK116510723065107230single base substitutionCGupstream_gene_variant
PRAD-US116510796165107961single base substitutionCTexon_variant
PRAD-US116510796165107961single base substitutionCTintron_variant
PRAD-US116510796165107961single base substitutionCTsynonymous_variantT46T138C>T
PRAD-US116510796165107961single base substitutionCTupstream_gene_variant
PRAD-US116512352065123520single base substitutionGCdownstream_gene_variant
PRAD-US116512366365123663single base substitutionAGdownstream_gene_variant
PRAD-US116512439565124395single base substitutionGAdownstream_gene_variant
READ-US116511128565111285single base substitutionCT3_prime_UTR_variant
READ-US116511128565111285single base substitutionCTdownstream_gene_variant
READ-US116511128565111285single base substitutionCTexon_variant
READ-US116511128565111285single base substitutionCTintron_variant
READ-US116511128565111285single base substitutionCTmissense_variantR179C535C>T
READ-US116511128565111285single base substitutionCTupstream_gene_variant
READ-US116512372865123728single base substitutionCTdownstream_gene_variant
RECA-EU116509703965097039single base substitutionTCupstream_gene_variant
RECA-EU116511207665112076single base substitutionGAdownstream_gene_variant
RECA-EU116511207665112076single base substitutionGAexon_variant
RECA-EU116511207665112076single base substitutionGAintron_variant
RECA-EU116511207665112076single base substitutionGAsynonymous_variantS221S663G>A
RECA-EU116511207665112076single base substitutionGAupstream_gene_variant
RECA-EU116512026865120268single base substitutionGT3_prime_UTR_variant
RECA-EU116512026865120268single base substitutionGTexon_variant
SKCA-BR116509876865098768single base substitutionTGupstream_gene_variant
SKCA-BR116509992365099923insertion of <=200bp-ATupstream_gene_variant
SKCA-BR116510177865101778single base substitutionACintron_variant
SKCA-BR116510303965103039single base substitutionACintron_variant
SKCA-BR116510438065104380single base substitutionTGintron_variant
SKCA-BR116510438065104380single base substitutionTGupstream_gene_variant
SKCA-BR116510497365104987deletion of <=200bpTATAGAGAGAGAGAG-intron_variant
SKCA-BR116510497365104987deletion of <=200bpTATAGAGAGAGAGAG-upstream_gene_variant
SKCA-BR116510821865108218single base substitutionCTintron_variant
SKCA-BR116510821865108218single base substitutionCTupstream_gene_variant
SKCA-BR116511122265111222single base substitutionCTdownstream_gene_variant
SKCA-BR116511122265111222single base substitutionCTexon_variant
SKCA-BR116511122265111222single base substitutionCTintron_variant
SKCA-BR116511122265111222single base substitutionCTsplice_region_variant
SKCA-BR116511122265111222single base substitutionCTsynonymous_variantL158L472C>T
SKCA-BR116511122265111222single base substitutionCTupstream_gene_variant
SKCA-BR116511215765112157single base substitutionCTdownstream_gene_variant
SKCA-BR116511215765112157single base substitutionCTexon_variant
SKCA-BR116511215765112157single base substitutionCTintron_variant
SKCA-BR116511215765112157single base substitutionCTupstream_gene_variant
SKCA-BR116511454665114546single base substitutionCTdownstream_gene_variant
SKCA-BR116511454665114546single base substitutionCTexon_variant
SKCA-BR116511454665114546single base substitutionCTintron_variant
SKCA-BR116511454765114547single base substitutionAGdownstream_gene_variant
SKCA-BR116511454765114547single base substitutionAGexon_variant
SKCA-BR116511454765114547single base substitutionAGintron_variant
SKCA-BR116511454965114549single base substitutionATdownstream_gene_variant
SKCA-BR116511454965114549single base substitutionATexon_variant
SKCA-BR116511454965114549single base substitutionATintron_variant
SKCA-BR116511455465114554single base substitutionCTdownstream_gene_variant
SKCA-BR116511455465114554single base substitutionCTexon_variant
SKCA-BR116511455465114554single base substitutionCTintron_variant
SKCA-BR116511455565114555single base substitutionAGdownstream_gene_variant
SKCA-BR116511455565114555single base substitutionAGexon_variant
SKCA-BR116511455565114555single base substitutionAGintron_variant
SKCA-BR116511457965114579single base substitutionGAdownstream_gene_variant
SKCA-BR116511457965114579single base substitutionGAexon_variant
SKCA-BR116511457965114579single base substitutionGAintron_variant
SKCA-BR116511458665114586single base substitutionATdownstream_gene_variant
SKCA-BR116511458665114586single base substitutionATexon_variant
SKCA-BR116511458665114586single base substitutionATintron_variant
SKCA-BR116511458865114588single base substitutionTCdownstream_gene_variant
SKCA-BR116511458865114588single base substitutionTCexon_variant
SKCA-BR116511458865114588single base substitutionTCintron_variant
SKCA-BR116511458965114589single base substitutionGCdownstream_gene_variant
SKCA-BR116511458965114589single base substitutionGCexon_variant
SKCA-BR116511458965114589single base substitutionGCintron_variant
SKCA-BR116511513565115135single base substitutionATdownstream_gene_variant
SKCA-BR116511513565115135single base substitutionATexon_variant
SKCA-BR116511513565115135single base substitutionATintron_variant
SKCA-BR116511988965119889single base substitutionCT3_prime_UTR_variant
SKCA-BR116511988965119889single base substitutionCTexon_variant
SKCA-BR116512195265121952single base substitutionCTdownstream_gene_variant
SKCA-BR116512258965122589single base substitutionACdownstream_gene_variant
SKCA-BR116512260665122606single base substitutionACdownstream_gene_variant
SKCA-BR116512392165123921single base substitutionTGdownstream_gene_variant
SKCA-BR116512491865124918single base substitutionTGdownstream_gene_variant
SKCM-US116510785665107856single base substitutionCTintron_variant
SKCM-US116510785665107856single base substitutionCTsplice_region_variant
SKCM-US116510785665107856single base substitutionCTupstream_gene_variant
SKCM-US116510801365108013single base substitutionCTexon_variant
SKCM-US116510801365108013single base substitutionCTintron_variant
SKCM-US116510801365108013single base substitutionCTmissense_variantP64S190C>T
SKCM-US116510801365108013single base substitutionCTupstream_gene_variant
SKCM-US116510852465108524single base substitutionCTexon_variant
SKCM-US116510852465108524single base substitutionCTmissense_variantS94F281C>T
SKCM-US116510852465108524single base substitutionCTupstream_gene_variant
SKCM-US116510853065108530single base substitutionCTexon_variant
SKCM-US116510853065108530single base substitutionCTmissense_variantP96L287C>T
SKCM-US116510853065108530single base substitutionCTupstream_gene_variant
SKCM-US116510897465108974single base substitutionCTexon_variant
SKCM-US116510897465108974single base substitutionCTintron_variant
SKCM-US116510897465108974single base substitutionCTmissense_variantP136S406C>T
SKCM-US116510897465108974single base substitutionCTupstream_gene_variant
SKCM-US116511324465113244single base substitutionCTdownstream_gene_variant
SKCM-US116511324465113244single base substitutionCTexon_variant
SKCM-US116511324465113244single base substitutionCTintron_variant
SKCM-US116511324465113244single base substitutionCTmissense_variantP249S745C>T
SKCM-US116511324465113244single base substitutionCTmissense_variantP263S787C>T
SKCM-US116511324465113244single base substitutionCTsynonymous_variantL11L33C>T
SKCM-US116511382065113820single base substitutionCTdownstream_gene_variant
SKCM-US116511382065113820single base substitutionCTexon_variant
SKCM-US116511382065113820single base substitutionCTintron_variant
SKCM-US116511382065113820single base substitutionCTmissense_variantS336F1007C>T
SKCM-US116511382065113820single base substitutionCTmissense_variantS350F1049C>T
SKCM-US116511920365119203single base substitutionCTexon_variant
SKCM-US116511920365119203single base substitutionCTsynonymous_variantS108S324C>T
SKCM-US116511920365119203single base substitutionCTsynonymous_variantS199S597C>T
SKCM-US116511920365119203single base substitutionCTsynonymous_variantS383S1149C>T
SKCM-US116511920365119203single base substitutionCTsynonymous_variantS397S1191C>T
SKCM-US116512333065123330single base substitutionGAdownstream_gene_variant
SKCM-US116512336865123368single base substitutionCTdownstream_gene_variant
SKCM-US116512363065123630single base substitutionCTdownstream_gene_variant
SKCM-US116512366065123660single base substitutionGAdownstream_gene_variant
SKCM-US116512376765123767single base substitutionCTdownstream_gene_variant
SKCM-US116512385965123859single base substitutionCTdownstream_gene_variant
SKCM-US116512400265124002single base substitutionCTdownstream_gene_variant
SKCM-US116512400365124003single base substitutionCTdownstream_gene_variant
SKCM-US116512409365124093single base substitutionGAdownstream_gene_variant
SKCM-US116512412965124129single base substitutionCTdownstream_gene_variant
SKCM-US116512413165124131single base substitutionCTdownstream_gene_variant
SKCM-US116512416465124164single base substitutionCTdownstream_gene_variant
SKCM-US116512427465124274single base substitutionGAdownstream_gene_variant
SKCM-US116512443165124431single base substitutionCTdownstream_gene_variant
SKCM-US116512456665124566single base substitutionCTdownstream_gene_variant
SKCM-US116512465765124657single base substitutionGAdownstream_gene_variant
STAD-US116510845965108459single base substitutionCTexon_variant
STAD-US116510845965108459single base substitutionCTsynonymous_variantY72Y216C>T
STAD-US116510845965108459single base substitutionCTupstream_gene_variant
STAD-US116510902265109022single base substitutionCTexon_variant
STAD-US116510902265109022single base substitutionCTintron_variant
STAD-US116510902265109022single base substitutionCTstop_gainedR152*454C>T
STAD-US116510902265109022single base substitutionCTupstream_gene_variant
STAD-US116512348265123482single base substitutionGAdownstream_gene_variant
STAD-US116512361665123616single base substitutionAGdownstream_gene_variant
STAD-US116512371465123714deletion of <=200bpC-downstream_gene_variant
STAD-US116512414465124144single base substitutionGAdownstream_gene_variant
STAD-US116512429765124297single base substitutionGAdownstream_gene_variant
STAD-US116512459465124594single base substitutionGTdownstream_gene_variant
THCA-SA116512440865124408single base substitutionAGdownstream_gene_variant
UCEC-US116510137565101375single base substitutionGTexon_variant
UCEC-US116510137565101375single base substitutionGTmissense_variantE6D18G>T
UCEC-US116510787865107878single base substitutionGTexon_variant
UCEC-US116510787865107878single base substitutionGTintron_variant
UCEC-US116510787865107878single base substitutionGTmissense_variantD19Y55G>T
UCEC-US116510787865107878single base substitutionGTupstream_gene_variant
UCEC-US116510791165107911single base substitutionCTexon_variant
UCEC-US116510791165107911single base substitutionCTintron_variant
UCEC-US116510791165107911single base substitutionCTmissense_variantR30C88C>T
UCEC-US116510791165107911single base substitutionCTupstream_gene_variant
UCEC-US116510888465108884single base substitutionCAexon_variant
UCEC-US116510888465108884single base substitutionCAintron_variant
UCEC-US116510888465108884single base substitutionCAmissense_variantL106M316C>A
UCEC-US116510888465108884single base substitutionCAupstream_gene_variant
UCEC-US116510893965108939single base substitutionGAexon_variant
UCEC-US116510893965108939single base substitutionGAintron_variant
UCEC-US116510893965108939single base substitutionGAmissense_variantR124H371G>A
UCEC-US116510893965108939single base substitutionGAupstream_gene_variant
UCEC-US116510895965108959single base substitutionCTexon_variant
UCEC-US116510895965108959single base substitutionCTintron_variant
UCEC-US116510895965108959single base substitutionCTstop_gainedR131*391C>T
UCEC-US116510895965108959single base substitutionCTupstream_gene_variant
UCEC-US116511121665111216single base substitutionCTdownstream_gene_variant
UCEC-US116511121665111216single base substitutionCTexon_variant
UCEC-US116511121665111216single base substitutionCTintron_variant
UCEC-US116511121665111216single base substitutionCTmissense_variantR156W466C>T
UCEC-US116511121665111216single base substitutionCTsplice_region_variant
UCEC-US116511121665111216single base substitutionCTupstream_gene_variant
UCEC-US116511377265113772single base substitutionAGdownstream_gene_variant
UCEC-US116511377265113772single base substitutionAGexon_variant
UCEC-US116511377265113772single base substitutionAGintron_variant
UCEC-US116511377265113772single base substitutionAGmissense_variantY320C959A>G
UCEC-US116511377265113772single base substitutionAGmissense_variantY334C1001A>G
UCEC-US116511635165116351single base substitutionCTdownstream_gene_variant
UCEC-US116511635165116351single base substitutionCTexon_variant
UCEC-US116511635165116351single base substitutionCTmissense_variantR166C496C>T
UCEC-US116511635165116351single base substitutionCTmissense_variantR350C1048C>T
UCEC-US116511635165116351single base substitutionCTmissense_variantR364C1090C>T
UCEC-US116511635165116351single base substitutionCTmissense_variantR75C223C>T
UCEC-US116512330965123309single base substitutionCTdownstream_gene_variant
UCEC-US116512353765123537single base substitutionGTdownstream_gene_variant
UCEC-US116512397265123972single base substitutionGAdownstream_gene_variant
UCEC-US116512409665124096single base substitutionCAdownstream_gene_variant
UCEC-US116512418165124181single base substitutionTCdownstream_gene_variant
UCEC-US116512450465124504single base substitutionAGdownstream_gene_variant
UCEC-US116512458165124581single base substitutionCTdownstream_gene_variant
UCEC-US116512463065124630single base substitutionTCdownstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-FW-A3R5-06COSM3869904c.745C>Tp.P249SSubstitution - Missense11:65345773-65345773+
PASFXACOSM5005943c.247C>Tp.R83WSubstitution - Missense11:65341019-65341019+
TCGA-33-4566-01COSM690030c.777C>Gp.S259SSubstitution - coding silent11:65345931-65345931+
6115121COSM5565489c.898C>Tp.R300CSubstitution - Missense11:65346052-65346052+
YUNEKICOSM5373267c.228C>Tp.A76ASubstitution - coding silent11:65341000-65341000+
TCGA-34-5927-01COSM690029c.837C>Gp.D279ESubstitution - Missense11:65345991-65345991+
T25COSM5341674c.820G>Ap.D274NSubstitution - Missense11:65345974-65345974+
TCGA-13-1409-01COSM70523c.227C>Ap.A76DSubstitution - Missense11:65340999-65340999+
TCGA-EE-A3AA-06COSM3451771c.1007C>Tp.S336FSubstitution - Missense11:65346349-65346349+
HCC53TCOSM1605010c.904+3A>Cp.?Unknown11:65346061-65346061+
ESO-0292COSM1241098c.240_241insAp.R83fs*7Insertion - Frameshift11:65341012-65341013+
CHEWS002COSM4574654c.219C>Tp.S73SSubstitution - coding silent11:65340991-65340991+
ACHNCOSM1676177c.1034G>Tp.C345FSubstitution - Missense11:65348866-65348866+
TCGA-A6-5661-01COSM1355926c.761C>Ap.S254YSubstitution - Missense11:65345789-65345789+
C058COSM5524869c.1008C>Tp.S336SSubstitution - coding silent11:65346350-65346350+
TCGA-E2-A573-01COSM3810040c.33-1G>Tp.?Unknown11:65340384-65340384+
TCGA-EB-A553-01COSM3451769c.287C>Tp.P96LSubstitution - Missense11:65341059-65341059+
TCGA-B5-A0K9-01COSM930380c.371G>Ap.R124HSubstitution - Missense11:65341468-65341468+
TCGA-22-5473-01COSM690031c.66G>Ap.E22ESubstitution - coding silent11:65340418-65340418+
TCGA-BP-5195-01COSM467222c.129C>Tp.D43DSubstitution - coding silent11:65340481-65340481+
TCGA-BQ-5876-01COSM3986353c.699G>Ap.L233LSubstitution - coding silent11:65345727-65345727+
T368COSM4679240c.1017+1G>Ap.?Unknown11:65346360-65346360+
tumor_4134005COSM5949898c.637+3G>Tp.?Unknown11:65344072-65344072+
TCGA-B0-4811-01COSM467223c.795A>Cp.G265GSubstitution - coding silent11:65345949-65345949+
PD22365aCOSM5790693c.834G>Tp.G278GSubstitution - coding silent11:65345988-65345988+
B47COSM1746469c.902C>Gp.S301*Substitution - Nonsense11:65346056-65346056+
TCGA-DD-A73F-01COSM4935441c.1048C>Gp.R350GSubstitution - Missense11:65348880-65348880+
ATL058COSM5704133c.976G>Ap.E326KSubstitution - Missense11:65346318-65346318+
TCGA-AX-A0J0-01COSM930376c.18G>Tp.E6DSubstitution - Missense11:65333904-65333904+
442COSM4434580c.899G>Tp.R300LSubstitution - Missense11:65346053-65346053+
CSCC-27-TCOSM4493044c.408C>Tp.P136PSubstitution - coding silent11:65341505-65341505+
ESCC_159COSM5647008c.103C>Tp.R35CSubstitution - Missense11:65340455-65340455+
TCGA-FW-A3R5-06COSM3869903c.33C>Tp.L11LSubstitution - coding silent11:65340385-65340385+
TCGA-BR-8680-01COSM1250608c.454C>Tp.R152*Substitution - Nonsense11:65341551-65341551+
TCGA-BH-A0E7-01COSM194209c.1077G>Ap.P359PSubstitution - coding silent11:65348909-65348909+
BK0035COSM2165432c.818G>Ap.C273YSubstitution - Missense11:65345972-65345972+
TCGA-AP-A0LG-01COSM930382c.466C>Tp.R156WSubstitution - Missense11:65343745-65343745+
ACA3COSM5961379c.32T>Ap.L11HSubstitution - Missense11:65333918-65333918+
T578COSM4679238c.238C>Tp.R80WSubstitution - Missense11:65341010-65341010+
HCC53COSM1605010c.904+3A>Cp.?Unknown11:65346061-65346061+
HCC028TCOSM5704133c.976G>Ap.E326KSubstitution - Missense11:65346318-65346318+
LUAD-D00147COSM362753c.447C>Tp.T149TSubstitution - coding silent11:65341544-65341544+
2492703COSM5716284c.203C>Tp.S68FSubstitution - Missense11:65340975-65340975+
PR-00-1165COSM244130c.433G>Ap.E145KSubstitution - Missense11:65341530-65341530+
ATL022COSM5704131c.904G>Ap.G302RSubstitution - Missense11:65346058-65346058+
2204COSM144446c.1099+1G>Tp.?Unknown11:65348932-65348932+
TCGA-AP-A059-01COSM930379c.316C>Ap.L106MSubstitution - Missense11:65341413-65341413+
TCGA-DD-A3A6-01COSM4916107c.536G>Ap.R179HSubstitution - Missense11:65343815-65343815+
RK189_C01COSM1628164c.686C>Tp.A229VSubstitution - Missense11:65345714-65345714+
17DCOSM1235204c.884G>Cp.C295SSubstitution - Missense11:65346038-65346038+
TCGA-ES-A2HS-01COSM4910643c.681C>Gp.H227QSubstitution - Missense11:65345709-65345709+
TCGA-D1-A15X-01COSM930384c.1048C>Tp.R350CSubstitution - Missense11:65348880-65348880+
KM12COSM1676176c.184C>Tp.R62WSubstitution - Missense11:65340536-65340536+
ATL071COSM5704132c.904G>Cp.G302RSubstitution - Missense11:65346058-65346058+
19COSM5012368c.808A>Cp.N270HSubstitution - Missense11:65345962-65345962+
pfg122TCOSM4756591c.962G>Ap.R321HSubstitution - Missense11:65346304-65346304+
BD245TCOSM5519997c.776-12_776-4delTTCTCTCTGp.?Unknown11:65345918-65345926+
TCGA-EB-A41A-01COSM3451768c.190C>Tp.P64SSubstitution - Missense11:65340542-65340542+
PD9579aCOSM5786022c.1015G>Ap.D339NSubstitution - Missense11:65346357-65346357+
TCGA-BQ-7058-01COSM3986354c.814T>Cp.Y272HSubstitution - Missense11:65345968-65345968+
TCGA-G4-6588-01COSM1355929c.892_893delTGp.C298fs*41Deletion - Frameshift11:65346046-65346047+
CHC892TCOSM4960716c.395G>Ap.G132DSubstitution - Missense11:65341492-65341492+
MT-260-T2COSM5651472c.868G>Ap.E290KSubstitution - Missense11:65346022-65346022+
TCGA-B5-A11E-01COSM930377c.55G>Tp.D19YSubstitution - Missense11:65340407-65340407+
T204COSM4679239c.858G>Ap.T286TSubstitution - coding silent11:65346012-65346012+
RK189_C01COSM1628163c.685G>Tp.A229SSubstitution - Missense11:65345713-65345713+
TCGA-AZ-4615-01COSM2165435c.999C>Tp.C333CSubstitution - coding silent11:65346341-65346341+
TCGA-EE-A29Q-06COSM3451770c.406C>Tp.P136SSubstitution - Missense11:65341503-65341503+
LUAD-D01603COSM337287c.794G>Cp.G265ASubstitution - Missense11:65345948-65345948+
BD121TCOSM930384c.1048C>Tp.R350CSubstitution - Missense11:65348880-65348880+
TCGA-AM-5821-01COSM1238724c.857C>Tp.T286MSubstitution - Missense11:65346011-65346011+
C547COSM4442338c.26T>Cp.V9ASubstitution - Missense11:65333912-65333912+
110-0218-04TDCOSM145335c.665C>Tp.P222LSubstitution - Missense11:65345693-65345693+
110COSM145335c.665C>Tp.P222LSubstitution - Missense11:65345693-65345693+
TCGA-D8-A1J9-01COSM1475746c.975C>Tp.I325ISubstitution - coding silent11:65346317-65346317+
TCGA-06-0192-01COSM3398045c.113G>Ap.R38HSubstitution - Missense11:65340465-65340465+
YUSCOCOSM1704239c.1172C>Tp.S391FSubstitution - Missense11:65351755-65351755+
DLBCL-PatientGCOSM221377c.455G>Ap.R152QSubstitution - Missense11:65341552-65341552+
ESCC_68COSM5633810c.1000G>Ap.G334SSubstitution - Missense11:65346342-65346342+
TCGA-BR-8078-01COSM4035371c.216C>Tp.Y72YSubstitution - coding silent11:65340988-65340988+
TCGA-AP-A056-01COSM930378c.88C>Tp.R30CSubstitution - Missense11:65340440-65340440+
TCGA-39-5027-01COSM690028c.954G>Tp.K318NSubstitution - Missense11:65346296-65346296+
2292384COSM4610323c.979T>Cp.C327RSubstitution - Missense11:65346321-65346321+
I2L-P24Tb-Tumor-OrganoidCOSM5360873c.1067G>Ap.C356YSubstitution - Missense11:65348899-65348899+
TCGA-AG-3902-01COSM258775c.907C>Tp.H303YSubstitution - Missense11:65346249-65346249+
TCGA-AP-A059-01COSM930381c.391C>Tp.R131*Substitution - Nonsense11:65341488-65341488+
KM12COSM1676176c.184C>Tp.R62WSubstitution - Missense11:65340536-65340536+
SNU_09_S1COSM1509483c.1045G>Ap.D349NSubstitution - Missense11:65348877-65348877+
1N56-VS-1T56COSM4977166c.72C>Tp.C24CSubstitution - coding silent11:65340424-65340424+
HRA19COSM4637637c.397G>Ap.A133TSubstitution - Missense11:65341494-65341494+
ESO-859COSM1238724c.857C>Tp.T286MSubstitution - Missense11:65346011-65346011+
TCGA-MH-A55W-01COSM3986352c.133C>Gp.Q45ESubstitution - Missense11:65340485-65340485+
TCGA-DM-A1HA-01COSM1355930c.930C>Tp.T310TSubstitution - coding silent11:65346272-65346272+
HCC155TCOSM5823295c.266A>Tp.E89VSubstitution - Missense11:65341038-65341038+
ESO-114COSM1250608c.454C>Tp.R152*Substitution - Nonsense11:65341551-65341551+
TCGA-J9-A52C-01COSM2165423c.138C>Tp.T46TSubstitution - coding silent11:65340490-65340490+
2492701COSM5716284c.203C>Tp.S68FSubstitution - Missense11:65340975-65340975+
SS6003314COSM4127485c.194-1G>Ap.?Unknown11:65340965-65340965+
TCGA-EE-A2MR-06COSM3451772c.1149C>Tp.S383SSubstitution - coding silent11:65351732-65351732+
TCGA-GN-A266-06COSM1704238c.281C>Tp.S94FSubstitution - Missense11:65341053-65341053+
I2L-P10-Tumor-OrganoidCOSM5360492c.312G>Tp.Q104HSubstitution - Missense11:65341409-65341409+
PT36COSM5916035c.262C>Tp.P88SSubstitution - Missense11:65341034-65341034+
YUGOECOSM1704238c.281C>Tp.S94FSubstitution - Missense11:65341053-65341053+
I2L-P24Tb-Tumor-BiopsyCOSM5360873c.1067G>Ap.C356YSubstitution - Missense11:65348899-65348899+
PD9411aCOSM3720479c.902C>Tp.S301LSubstitution - Missense11:65346056-65346056+
pfg181TCOSM4756590c.715G>Ap.E239KSubstitution - Missense11:65345743-65345743+
66COSM1238724c.857C>Tp.T286MSubstitution - Missense11:65346011-65346011+
ATL065COSM5704134c.1049G>Ap.R350HSubstitution - Missense11:65348881-65348881+
TCGA-EI-6882-01COSM3416119c.535C>Tp.R179CSubstitution - Missense11:65343814-65343814+
LUAD-RT-S01702COSM378970c.178C>Tp.R60*Substitution - Nonsense11:65340530-65340530+
B47-TumorCOSM1746469c.902C>Gp.S301*Substitution - Nonsense11:65346056-65346056+
CHC892TCOSM4960716c.395G>Ap.G132DSubstitution - Missense11:65341492-65341492+
TCGA-B5-A11G-01COSM930383c.959A>Gp.Y320CSubstitution - Missense11:65346301-65346301+
2476_CLMCOSM5753775c.14T>Gp.V5GSubstitution - Missense11:65333900-65333900+
Pat_45_ACOSM5839233c.409C>Tp.R137*Substitution - Nonsense11:65341506-65341506+
LUAD-B01145COSM333228c.899G>Cp.R300PSubstitution - Missense11:65346053-65346053+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.13438;Hs.13480;Hs.1349511q136016711514437|dbSNP|BC014889|C/T|non-coding||2347|Validated;
1514536|dbSNP|BC014889|C/T|non-coding||2347|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.K328Tc.983A>C1165113796COREAD
AGMissensep.E337Gc.1010A>G1165113823COREAD
AGMissensep.Y320Cc.959A>G1165113772UCEC
ATMissensep.E58Vc.173A>T1165107996LUAD
CAMissensep.A76Dc.227C>A1165108470OV
CGMissensep.D279Ec.837C>G1165113462LUSC
CT3-UTRSNV.c.1173+58C>T1165119285CM
CT3-UTRSNV.c.1173+89C>T1165119316CM
CTIntronicSNV.c.1018-29C>T1165116292CM
CTMissensep.H303Yc.907C>T1165113720COREAD
CTMissensep.P136Sc.406C>T1165108974CM
CTMissensep.R124Cc.370C>T1165108938HNSC
CTMissensep.R156Wc.466C>T1165111216UCEC
CTMissensep.R62Wc.184C>T1165108007CM
CTMissensep.S336Fc.1007C>T1165113820CM
CTMissensep.T286Mc.857C>T1165113482ESCA
CTSynonymousp.I325Ic.975C>T1165113788BRCA
GAMissensep.R124Hc.371G>A1165108939UCEC
GAMissensep.R38Hc.113G>A1165107936GBM
GASynonymousp.E22Ec.66G>A1165107889LUSC
GASynonymousp.K219Kc.657G>A1165113156LUAD
GASynonymousp.P359Pc.1077G>A1165116380BRCA
G-Frameshiftp.C327Sfs*52c.980delG1165113793HNSC
GTMissensep.K318Nc.954G>T1165113767LUSC
GTMissensep.W322Cc.966G>T1165113779LUAD
TAMissensep.C371Sc.1111T>A1165119165COREAD
TAMissensep.F163Yc.488T>A1165111238CM