STRN3
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA143136478731364787+Splice_SiteSNPCCATCGA-UY-A8OB-01A-12D-A42E-08TCGA-UY-A8OB-11A-12D-A42H-08g.chr14:31364787C>Ac.e18-1
BLCA143137612431376124+Missense_MutationSNPTTGTCGA-DK-A6B5-01A-11D-A31L-08TCGA-DK-A6B5-10A-01D-A31J-08g.chr14:31376124T>Gc.1847A>Cc.(1846-1848)cAa>cCap.Q616P
BLCA143140571331405713+Missense_MutationSNPCCTTCGA-GD-A76B-01A-11D-A32B-08TCGA-GD-A76B-10A-01D-A329-08g.chr14:31405713C>Tc.834G>Ac.(832-834)atG>atAp.M278I
BLCA143141638631416386+Missense_MutationSNPGGATCGA-BT-A2LB-01A-11D-A18F-08TCGA-BT-A2LB-10A-01D-A18F-08g.chr14:31416386G>Ac.626C>Tc.(625-627)tCa>tTap.S209L
BLCA143142487431424874+Missense_MutationSNPCCTTCGA-UY-A9PF-01A-11D-A38G-08TCGA-UY-A9PF-10A-01D-A38J-08g.chr14:31424874C>Tc.412G>Ac.(412-414)Ggc>Agcp.G138S
BRCA143136469931364699+Nonsense_MutationSNPGGCTCGA-BH-A0B6-01A-11D-A19Y-09TCGA-BH-A0B6-10A-01D-A19Y-09g.chr14:31364699G>Cc.2312C>Gc.(2311-2313)tCa>tGap.S771*
BRCA143137467031374672+In_Frame_DelDELTAATAA-TCGA-A8-A093-01A-11W-A019-09TCGA-A8-A093-10A-01W-A021-09g.chr14:31374670_31374672delTAAc.1981_1983delTTAc.(1981-1983)ttadelp.L661del
BRCA143138122431381224+SilentSNPAACTCGA-BH-A0DK-01A-21W-A071-09TCGA-BH-A0DK-11A-13W-A100-09g.chr14:31381224A>Cc.1539T>Gc.(1537-1539)gtT>gtGp.V513V
BRCA143138130831381308+SilentSNPTTCTCGA-BH-A0BP-01A-11D-A10Y-09TCGA-BH-A0BP-10A-01D-A110-09g.chr14:31381308T>Cc.1455A>Gc.(1453-1455)gcA>gcGp.A485A
BRCA143138824731388247+Missense_MutationSNPGGCTCGA-E2-A15F-01A-11D-A10Y-09TCGA-E2-A15F-10A-01D-A110-09g.chr14:31388247G>Cc.1165C>Gc.(1165-1167)Cct>Gctp.P389A
BRCA143140574831405748+Missense_MutationSNPCCTTCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr14:31405748C>Tc.799G>Ac.(799-801)Gaa>Aaap.E267K
COAD143137617531376175+Frame_Shift_DelDELTT-TCGA-A6-3809-01A-01W-0995-10TCGA-A6-3809-11A-01W-0995-10g.chr14:31376175delTc.1796delAc.(1795-1797)aatfsp.N599fs
COAD143138126331381263+Missense_MutationSNPCCATCGA-AA-3672-01A-01W-0900-09TCGA-AA-3672-10A-01W-0900-09g.chr14:31381263C>Ac.1500G>Tc.(1498-1500)gaG>gaTp.E500D
COAD143138131331381313+Missense_MutationSNPGGATCGA-G4-6304-01A-11D-1924-10TCGA-G4-6304-10A-01D-1924-10g.chr14:31381313G>Ac.1450C>Tc.(1450-1452)Cgg>Tggp.R484W
COAD143138131631381316+Missense_MutationSNPCCTTCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr14:31381316C>Tc.1447G>Ac.(1447-1449)Gta>Atap.V483I
COAD143140582931405829+Splice_SiteSNPAAGTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr14:31405829A>Gc.718T>Cc.(718-720)Tcc>Cccp.S240P
COAD143142537231425372+Missense_MutationSNPAACTCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr14:31425372A>Cc.359T>Gc.(358-360)aTg>aGgp.M120R
COAD143142542031425420+Missense_MutationSNPCCATCGA-CA-6718-01A-11D-1835-10TCGA-CA-6718-10A-01D-1835-10g.chr14:31425420C>Ac.311G>Tc.(310-312)aGa>aTap.R104I
COADREAD143137617531376175+Frame_Shift_DelDELTT-TCGA-A6-3809-01A-01W-0995-10TCGA-A6-3809-11A-01W-0995-10g.chr14:31376175delTc.1796delAc.(1795-1797)aatfsp.N599fs
COADREAD143138126331381263+Missense_MutationSNPCCATCGA-AA-3672-01A-01W-0900-09TCGA-AA-3672-10A-01W-0900-09g.chr14:31381263C>Ac.1500G>Tc.(1498-1500)gaG>gaTp.E500D
COADREAD143138131331381313+Missense_MutationSNPGGATCGA-G4-6304-01A-11D-1924-10TCGA-G4-6304-10A-01D-1924-10g.chr14:31381313G>Ac.1450C>Tc.(1450-1452)Cgg>Tggp.R484W
COADREAD143138131631381316+Missense_MutationSNPCCTTCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr14:31381316C>Tc.1447G>Ac.(1447-1449)Gta>Atap.V483I
COADREAD143140582931405829+Splice_SiteSNPAAGTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr14:31405829A>Gc.718T>Cc.(718-720)Tcc>Cccp.S240P
COADREAD143142537231425372+Missense_MutationSNPAACTCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr14:31425372A>Cc.359T>Gc.(358-360)aTg>aGgp.M120R
COADREAD143142542031425420+Missense_MutationSNPCCATCGA-CA-6718-01A-11D-1835-10TCGA-CA-6718-10A-01D-1835-10g.chr14:31425420C>Ac.311G>Tc.(310-312)aGa>aTap.R104I
DLBC143136494831364948+Missense_MutationSNPAAGTCGA-G8-6324-01A-11D-2210-10TCGA-G8-6324-10A-01D-2210-10g.chr14:31364948A>Gc.2144T>Cc.(2143-2145)aTg>aCgp.M715T
DLBC143140449031404490+SilentSNPAACTCGA-GR-7351-01A-11D-2210-10TCGA-GR-7351-10A-01D-2210-10g.chr14:31404490A>Cc.867T>Gc.(865-867)gcT>gcGp.A289A
GBM143142540931425409+Nonsense_MutationSNPCCATCGA-06-0743-01A-01D-1492-08TCGA-06-0743-10A-01D-1492-08g.chr14:31425409C>Ac.322G>Tc.(322-324)Gag>Tagp.E108*
GBMLGG143138028031380280+Missense_MutationSNPGGATCGA-DH-5143-01A-01D-1468-08TCGA-DH-5143-10A-01D-1468-08g.chr14:31380280G>Ac.1687C>Tc.(1687-1689)Ccg>Tcgp.P563S
GBMLGG143142540931425409+Nonsense_MutationSNPCCATCGA-06-0743-01A-01D-1492-08TCGA-06-0743-10A-01D-1492-08g.chr14:31425409C>Ac.322G>Tc.(322-324)Gag>Tagp.E108*
HNSC143136464031364640+Missense_MutationSNPCCTTCGA-CV-A6K1-01A-11D-A31L-08TCGA-CV-A6K1-10A-01D-A31J-08g.chr14:31364640C>Tc.2371G>Ac.(2371-2373)Gct>Actp.A791T
HNSC143136464531364645+Missense_MutationSNPGGATCGA-UF-A7JD-01A-11D-A34J-08TCGA-UF-A7JD-10A-01D-A34M-08g.chr14:31364645G>Ac.2366C>Tc.(2365-2367)gCt>gTtp.A789V
HNSC143136466131364661+Missense_MutationSNPTTGTCGA-CV-A6K1-01A-11D-A31L-08TCGA-CV-A6K1-10A-01D-A31J-08g.chr14:31364661T>Gc.2350A>Cc.(2350-2352)Ata>Ctap.I784L
HNSC143138028031380280+Missense_MutationSNPGGATCGA-CQ-5323-01A-01D-1683-08TCGA-CQ-5323-10A-01D-1683-08g.chr14:31380280G>Ac.1687C>Tc.(1687-1689)Ccg>Tcgp.P563S
HNSC143138125631381256+Missense_MutationSNPTTCTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr14:31381256T>Cc.1507A>Gc.(1507-1509)Acc>Gccp.T503A
HNSC143140571131405711+Missense_MutationSNPTTCTCGA-CN-6011-01A-11D-1683-08TCGA-CN-6011-10A-01D-1683-08g.chr14:31405711T>Cc.836A>Gc.(835-837)aAt>aGtp.N279S
HNSC143140578431405784+Missense_MutationSNPCCATCGA-CR-7370-01A-11D-2129-08TCGA-CR-7370-10A-01D-2129-08g.chr14:31405784C>Ac.763G>Tc.(763-765)Gat>Tatp.D255Y
HNSC143140579931405799+Missense_MutationSNPAACTCGA-CR-7370-01A-11D-2129-08TCGA-CR-7370-10A-01D-2129-08g.chr14:31405799A>Cc.748T>Gc.(748-750)Ttc>Gtcp.F250V
HNSC143142011931420119+SilentSNPTTCTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr14:31420119T>Cc.492A>Gc.(490-492)gcA>gcGp.A164A
KICH143142007831420078+Missense_MutationSNPAAGTCGA-KL-8337-01A-11D-2310-10TCGA-KL-8337-11A-01D-2310-10g.chr14:31420078A>Gc.533T>Cc.(532-534)cTt>cCtp.L178P
KIPAN143137611531376115+Nonsense_MutationSNPAATTCGA-CJ-4907-01A-01D-1429-08TCGA-CJ-4907-11A-01D-1429-08g.chr14:31376115A>Tc.1856T>Ac.(1855-1857)tTg>tAgp.L619*
KIPAN143138275831382758+Missense_MutationSNPAATTCGA-SX-A71R-01A-12D-A33Q-10TCGA-SX-A71R-10A-01D-A33Q-10g.chr14:31382758A>Tc.1346T>Ac.(1345-1347)gTa>gAap.V449E
KIPAN143140444331404443+Missense_MutationSNPAATTCGA-BP-5010-01A-02D-1421-08TCGA-BP-5010-11A-01D-1421-08g.chr14:31404443A>Tc.914T>Ac.(913-915)tTt>tAtp.F305Y
KIPAN143141646531416465+Missense_MutationSNPGGTTCGA-B0-5701-01A-11D-1534-10TCGA-B0-5701-11A-01D-1534-10g.chr14:31416465G>Tc.547C>Ac.(547-549)Ctt>Attp.L183I
KIPAN143142007831420078+Missense_MutationSNPAAGTCGA-KL-8337-01A-11D-2310-10TCGA-KL-8337-11A-01D-2310-10g.chr14:31420078A>Gc.533T>Cc.(532-534)cTt>cCtp.L178P
KIPAN143142008331420083+Missense_MutationSNPTTATCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr14:31420083T>Ac.528A>Tc.(526-528)agA>agTp.R176S
KIRC143137611531376115+Nonsense_MutationSNPAATTCGA-CJ-4907-01A-01D-1429-08TCGA-CJ-4907-11A-01D-1429-08g.chr14:31376115A>Tc.1856T>Ac.(1855-1857)tTg>tAgp.L619*
KIRC143140444331404443+Missense_MutationSNPAATTCGA-BP-5010-01A-02D-1421-08TCGA-BP-5010-11A-01D-1421-08g.chr14:31404443A>Tc.914T>Ac.(913-915)tTt>tAtp.F305Y
KIRC143141646531416465+Missense_MutationSNPGGTTCGA-B0-5701-01A-11D-1534-10TCGA-B0-5701-11A-01D-1534-10g.chr14:31416465G>Tc.547C>Ac.(547-549)Ctt>Attp.L183I
KIRC143142008331420083+Missense_MutationSNPTTATCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr14:31420083T>Ac.528A>Tc.(526-528)agA>agTp.R176S
KIRP143138275831382758+Missense_MutationSNPAATTCGA-SX-A71R-01A-12D-A33Q-10TCGA-SX-A71R-10A-01D-A33Q-10g.chr14:31382758A>Tc.1346T>Ac.(1345-1347)gTa>gAap.V449E
LGG143138028031380280+Missense_MutationSNPGGATCGA-DH-5143-01A-01D-1468-08TCGA-DH-5143-10A-01D-1468-08g.chr14:31380280G>Ac.1687C>Tc.(1687-1689)Ccg>Tcgp.P563S
LIHC143142539631425396+Missense_MutationSNPTTCTCGA-CC-A3MA-01A-11D-A20W-10TCGA-CC-A3MA-10A-01D-A20W-10g.chr14:31425396T>Cc.335A>Gc.(334-336)aAg>aGgp.K112R
LUAD143137177831371778+Missense_MutationSNPCCTTCGA-55-7903-01A-11D-2167-08TCGA-55-7903-10A-01D-2167-08g.chr14:31371778C>Tc.2101G>Ac.(2101-2103)Gaa>Aaap.E701K
LUAD143137181631371816+Missense_MutationSNPAACTCGA-78-7155-01A-11D-2036-08TCGA-78-7155-10A-01D-2036-08g.chr14:31371816A>Cc.2063T>Gc.(2062-2064)gTa>gGap.V688G
LUAD143137470931374709+SilentSNPTTATCGA-05-4249-01A-01D-1105-08TCGA-05-4249-10A-01D-1105-08g.chr14:31374709T>Ac.1944A>Tc.(1942-1944)gtA>gtTp.V648V
LUAD143137622931376229+Missense_MutationSNPGGATCGA-69-7765-01A-11D-2167-08TCGA-69-7765-10A-01D-2167-08g.chr14:31376229G>Ac.1742C>Tc.(1741-1743)aCt>aTtp.T581I
LUAD143138033331380333+Missense_MutationSNPCCGTCGA-78-7152-01A-11D-2036-08TCGA-78-7152-10A-01D-2036-08g.chr14:31380333C>Gc.1634G>Cc.(1633-1635)gGa>gCap.G545A
LUAD143138100931381009+SilentSNPCCTTCGA-86-6851-01A-11D-1945-08TCGA-86-6851-10A-01D-1946-08g.chr14:31381009C>Tc.1572G>Ac.(1570-1572)gaG>gaAp.E524E
LUAD143138101431381014+Missense_MutationSNPCCATCGA-69-7979-01A-11D-2184-08TCGA-69-7979-10A-01D-2184-08g.chr14:31381014C>Ac.1567G>Tc.(1567-1569)Gta>Ttap.V523L
LUAD143138103031381030+Splice_SiteSNPCCGTCGA-97-A4M5-01A-11D-A24P-08TCGA-97-A4M5-10A-01D-A24P-08g.chr14:31381030C>Gc.1551G>Cc.(1549-1551)aaG>aaCp.K517N
LUAD143138122831381229+Frame_Shift_InsINS--TTCGA-17-Z054-01A-01W-0747-08TCGA-17-Z054-11A-01W-0747-08g.chr14:31381228_31381229insTc.1534_1535insAc.(1534-1536)acafsp.T512fs
LUAD143138275031382750+Missense_MutationSNPCCTTCGA-55-8205-01A-11D-2238-08TCGA-55-8205-10A-01D-2238-08g.chr14:31382750C>Tc.1354G>Ac.(1354-1356)Gat>Aatp.D452N
LUAD143138283331382833+Missense_MutationSNPCCATCGA-86-7711-01A-11D-2063-08TCGA-86-7711-10A-01D-2063-08g.chr14:31382833C>Ac.1271G>Tc.(1270-1272)gGc>gTcp.G424V
LUAD143138817831388178+Missense_MutationSNPCCTTCGA-50-5049-01A-01D-1625-08TCGA-50-5049-10A-01D-1625-08g.chr14:31388178C>Tc.1234G>Ac.(1234-1236)Gag>Aagp.E412K
LUAD143141633231416332+Missense_MutationSNPCCATCGA-78-7150-01A-21D-2036-08TCGA-78-7150-10A-01D-2036-08g.chr14:31416332C>Ac.680G>Tc.(679-681)gGt>gTtp.G227V
LUAD143141642431416424+SilentSNPCCATCGA-55-A490-01A-11D-A24D-08TCGA-55-A490-10A-01D-A24F-08g.chr14:31416424C>Ac.588G>Tc.(586-588)cgG>cgTp.R196R
LUAD143141647031416470+Splice_SiteSNPCCATCGA-50-5049-01A-01D-1625-08TCGA-50-5049-10A-01D-1625-08g.chr14:31416470C>Ac.e5-1
LUSC143137620631376206+Missense_MutationSNPCCATCGA-21-1070-01A-01D-1521-08TCGA-21-1070-11A-01D-1521-08g.chr14:31376206C>Ac.1765G>Tc.(1765-1767)Gtt>Tttp.V589F
LUSC143138100331381003+Missense_MutationSNPGGCTCGA-33-4586-01A-01D-1441-08TCGA-33-4586-11A-01D-1441-08g.chr14:31381003G>Cc.1578C>Gc.(1576-1578)atC>atGp.I526M
LUSC143138282731382827+Missense_MutationSNPGGATCGA-56-5897-01A-11D-1632-08TCGA-56-5897-10A-01D-1632-08g.chr14:31382827G>Ac.1277C>Tc.(1276-1278)tCa>tTap.S426L
OV143141642731416427+SilentSNPTTCTCGA-29-1690-01A-01W-0633-09TCGA-29-1690-10A-01W-0633-09g.chr14:31416427T>Cc.585A>Gc.(583-585)gtA>gtGp.V195V
OV143142486331424863+SilentSNPCCTTCGA-09-1665-01B-01W-0615-10TCGA-09-1665-11B-01W-0616-10g.chr14:31424863C>Tc.423G>Ac.(421-423)ctG>ctAp.L141L
PAAD143137473031374730+SilentSNPGGTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr14:31374730G>Tc.1923C>Ac.(1921-1923)ggC>ggAp.G641G
PAAD143141641831416418+Missense_MutationSNPCCATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr14:31416418C>Ac.594G>Tc.(592-594)caG>caTp.Q198H
PRAD143136463731364637+Missense_MutationSNPGGTTCGA-V1-A9O5-01A-11D-A41K-08TCGA-V1-A9O5-10A-01D-A41N-08g.chr14:31364637G>Tc.2374C>Ac.(2374-2376)Ctt>Attp.L792I
PRAD143141639631416396+Missense_MutationSNPGGTTCGA-KK-A8IC-01A-11D-A364-08TCGA-KK-A8IC-11A-12D-A362-08g.chr14:31416396G>Tc.616C>Ac.(616-618)Cta>Atap.L206I
SARC143136478431364784+Missense_MutationSNPGGATCGA-DX-A23U-01A-11D-A26G-09TCGA-DX-A23U-10A-01D-A26G-09g.chr14:31364784G>Ac.2227C>Tc.(2227-2229)Cat>Tatp.H743Y
SKCM143137474331374743+Missense_MutationSNPAACTCGA-D9-A6EC-06A-11D-A30X-08TCGA-D9-A6EC-10A-01D-A30X-08g.chr14:31374743A>Cc.1910T>Gc.(1909-1911)gTt>gGtp.V637G
SKCM143138122331381223+Missense_MutationSNPGGATCGA-GN-A266-06A-11D-A197-08TCGA-GN-A266-10A-01D-A199-08g.chr14:31381223G>Ac.1540C>Tc.(1540-1542)Cct>Tctp.P514S
SKCM143138134931381349+Missense_MutationSNPGGATCGA-EE-A2GI-06A-11D-A196-08TCGA-EE-A2GI-10A-01D-A198-08g.chr14:31381349G>Ac.1414C>Tc.(1414-1416)Ccc>Tccp.P472S
SKCM143138286131382861+Missense_MutationSNPCCTTCGA-D3-A3ML-06A-11D-A21A-08TCGA-D3-A3ML-10A-01D-A21A-08g.chr14:31382861C>Tc.1243G>Ac.(1243-1245)Gaa>Aaap.E415K
SKCM143140438931404389+Missense_MutationSNPGGATCGA-EB-A5UN-06A-11D-A30X-08TCGA-EB-A5UN-10A-01D-A30X-08g.chr14:31404389G>Ac.968C>Tc.(967-969)tCg>tTgp.S323L
SKCM143142008231420082+Missense_MutationSNPGGCTCGA-ER-A19P-06A-11D-A196-08TCGA-ER-A19P-10A-01D-A198-08g.chr14:31420082G>Cc.529C>Gc.(529-531)Cag>Gagp.Q177E
SKCM143142486031424860+SilentSNPGGATCGA-FS-A1ZQ-06A-11D-A197-08TCGA-FS-A1ZQ-10A-01D-A199-08g.chr14:31424860G>Ac.426C>Tc.(424-426)aaC>aaTp.N142N
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN143138821331388213single base substitutionGAintron_variant
BLCA-CN143138821331388213single base substitutionGAmissense_variantS400F1199C>T
BLCA-CN143138821331388213single base substitutionGAmissense_variantS81F242C>T
BLCA-US143141638631416386single base substitutionGAexon_variant
BLCA-US143141638631416386single base substitutionGAmissense_variantS209L626C>T
BLCA-US143141638631416386single base substitutionGAmissense_variantS90L269C>T
BOCA-FR143145000431450004single base substitutionTGintron_variant
BRCA-EU143135888831358888single base substitutionACdownstream_gene_variant
BRCA-EU143135992531359925single base substitutionCAdownstream_gene_variant
BRCA-EU143136123731361237single base substitutionATdownstream_gene_variant
BRCA-EU143136126531361265single base substitutionGCdownstream_gene_variant
BRCA-EU143136169831361698insertion of <=200bp-Adownstream_gene_variant
BRCA-EU143136220231362202single base substitutionCTdownstream_gene_variant
BRCA-EU143136345631363456single base substitutionAG3_prime_UTR_variant
BRCA-EU143136345631363456single base substitutionAGdownstream_gene_variant
BRCA-EU143136374931363749single base substitutionTG3_prime_UTR_variant
BRCA-EU143136374931363749single base substitutionTGdownstream_gene_variant
BRCA-EU143136419931364199single base substitutionGC3_prime_UTR_variant
BRCA-EU143136419931364199single base substitutionGCdownstream_gene_variant
BRCA-EU143136500531365005single base substitutionGAintron_variant
BRCA-EU143136505431365054single base substitutionCTintron_variant
BRCA-EU143136715731367157single base substitutionCTintron_variant
BRCA-EU143136915831369158single base substitutionCAintron_variant
BRCA-EU143137099131370991single base substitutionAGdownstream_gene_variant
BRCA-EU143137099131370991single base substitutionAGintron_variant
BRCA-EU143137159331371593single base substitutionGAdownstream_gene_variant
BRCA-EU143137159331371593single base substitutionGAintron_variant
BRCA-EU143137169831371698single base substitutionATdownstream_gene_variant
BRCA-EU143137169831371698single base substitutionATintron_variant
BRCA-EU143137264231372642single base substitutionCGdownstream_gene_variant
BRCA-EU143137264231372642single base substitutionCGintron_variant
BRCA-EU143137432331374323single base substitutionCTdownstream_gene_variant
BRCA-EU143137432331374323single base substitutionCTintron_variant
BRCA-EU143137539731375397single base substitutionGAintron_variant
BRCA-EU143137542331375423single base substitutionATintron_variant
BRCA-EU143137590131375901single base substitutionCTintron_variant
BRCA-EU143137792231377922single base substitutionCTdownstream_gene_variant
BRCA-EU143137792231377922single base substitutionCTintron_variant
BRCA-EU143137996531379965single base substitutionGCdownstream_gene_variant
BRCA-EU143137996531379965single base substitutionGCintron_variant
BRCA-EU143138003831380038single base substitutionAGdownstream_gene_variant
BRCA-EU143138003831380038single base substitutionAGintron_variant
BRCA-EU143138190931381909single base substitutionCGdownstream_gene_variant
BRCA-EU143138190931381909single base substitutionCGintron_variant
BRCA-EU143138190931381909single base substitutionCGupstream_gene_variant
BRCA-EU143138420931384209single base substitutionTAintron_variant
BRCA-EU143138420931384209single base substitutionTAupstream_gene_variant
BRCA-EU143138441631384416single base substitutionGCintron_variant
BRCA-EU143138441631384416single base substitutionGCupstream_gene_variant
BRCA-EU143138517331385173single base substitutionCTintron_variant
BRCA-EU143138517331385173single base substitutionCTupstream_gene_variant
BRCA-EU143138580631385806deletion of <=200bpT-intron_variant
BRCA-EU143138580631385806deletion of <=200bpT-upstream_gene_variant
BRCA-EU143138776631387766single base substitutionTCintron_variant
BRCA-EU143139183231391832single base substitutionTCintron_variant
BRCA-EU143139193031391930single base substitutionCAintron_variant
BRCA-EU143139460431394604deletion of <=200bpA-intron_variant
BRCA-EU143139581031395810single base substitutionCAintron_variant
BRCA-EU143139593731395937single base substitutionCAintron_variant
BRCA-EU143139654431396544single base substitutionTCintron_variant
BRCA-EU143139746931397469single base substitutionCTintron_variant
BRCA-EU143139757531397575single base substitutionCGintron_variant
BRCA-EU143139759531397595single base substitutionGCintron_variant
BRCA-EU143139935731399357single base substitutionTCintron_variant
BRCA-EU143139981431399814single base substitutionTCintron_variant
BRCA-EU143140004231400042single base substitutionCGintron_variant
BRCA-EU143140367031403670single base substitutionGAintron_variant
BRCA-EU143140367031403670single base substitutionGAupstream_gene_variant
BRCA-EU143140428931404289single base substitutionCTintron_variant
BRCA-EU143140428931404289single base substitutionCTupstream_gene_variant
BRCA-EU143140572131405721single base substitutionGAexon_variant
BRCA-EU143140572131405721single base substitutionGAmissense_variantH276Y826C>T
BRCA-EU143140572131405721single base substitutionGAmissense_variantH36Y106C>T
BRCA-EU143140572131405721single base substitutionGAupstream_gene_variant
BRCA-EU143140610431406104single base substitutionCGintron_variant
BRCA-EU143140610431406104single base substitutionCGupstream_gene_variant
BRCA-EU143140612331406123single base substitutionCTintron_variant
BRCA-EU143140612331406123single base substitutionCTupstream_gene_variant
BRCA-EU143140616831406168single base substitutionCTintron_variant
BRCA-EU143140616831406168single base substitutionCTupstream_gene_variant
BRCA-EU143140636131406361single base substitutionAGintron_variant
BRCA-EU143140636131406361single base substitutionAGupstream_gene_variant
BRCA-EU143140642131406421single base substitutionGAintron_variant
BRCA-EU143140642131406421single base substitutionGAupstream_gene_variant
BRCA-EU143140705031407050single base substitutionCTintron_variant
BRCA-EU143140705031407050single base substitutionCTupstream_gene_variant
BRCA-EU143141247931412479single base substitutionGCdownstream_gene_variant
BRCA-EU143141247931412479single base substitutionGCintron_variant
BRCA-EU143141307931413079single base substitutionGCdownstream_gene_variant
BRCA-EU143141307931413079single base substitutionGCintron_variant
BRCA-EU143141508631415086single base substitutionGCdownstream_gene_variant
BRCA-EU143141508631415086single base substitutionGCintron_variant
BRCA-EU143141512831415128single base substitutionGAdownstream_gene_variant
BRCA-EU143141512831415128single base substitutionGAintron_variant
BRCA-EU143141512931415129single base substitutionCAdownstream_gene_variant
BRCA-EU143141512931415129single base substitutionCAintron_variant
BRCA-EU143141517931415179deletion of <=200bpT-downstream_gene_variant
BRCA-EU143141517931415179deletion of <=200bpT-intron_variant
BRCA-EU143141736931417369single base substitutionCGintron_variant
BRCA-EU143141876131418761single base substitutionGAintron_variant
BRCA-EU143141953331419533single base substitutionGCintron_variant
BRCA-EU143141995131419951single base substitutionCTintron_variant
BRCA-EU143142016331420163insertion of <=200bp-Aintron_variant
BRCA-EU143142045131420451deletion of <=200bpT-intron_variant
BRCA-EU143142089531420895single base substitutionACintron_variant
BRCA-EU143142103531421035single base substitutionGCintron_variant
BRCA-EU143142118931421189single base substitutionCTintron_variant
BRCA-EU143142133031421330deletion of <=200bpC-intron_variant
BRCA-EU143142190631421906insertion of <=200bp-Aintron_variant
BRCA-EU143142204631422046single base substitutionCAintron_variant
BRCA-EU143142329031423290single base substitutionGCintron_variant
BRCA-EU143142411031424110single base substitutionATintron_variant
BRCA-EU143142454431424544single base substitutionTCintron_variant
BRCA-EU143142766131427662deletion of <=200bpCT-intron_variant
BRCA-EU143142806131428061single base substitutionGAintron_variant
BRCA-EU143142873231428732single base substitutionCTintron_variant
BRCA-EU143142880331428803single base substitutionCAintron_variant
BRCA-EU143143016931430169single base substitutionCGintron_variant
BRCA-EU143143061731430617single base substitutionGAintron_variant
BRCA-EU143143274831432748deletion of <=200bpG-intron_variant
BRCA-EU143143278231432782single base substitutionTAintron_variant
BRCA-EU143143475031434750single base substitutionGTintron_variant
BRCA-EU143143475031434750single base substitutionGTupstream_gene_variant
BRCA-EU143144097431440974deletion of <=200bpA-intron_variant
BRCA-EU143144254031442540deletion of <=200bpG-intron_variant
BRCA-EU143144272231442722single base substitutionGAintron_variant
BRCA-EU143144556431445564single base substitutionATintron_variant
BRCA-EU143144652631446526single base substitutionGCintron_variant
BRCA-EU143144729031447290single base substitutionGCintron_variant
BRCA-EU143144890431448904single base substitutionCAintron_variant
BRCA-EU143144950731449507single base substitutionCAintron_variant
BRCA-EU143144955031449550single base substitutionGCintron_variant
BRCA-EU143144999131449991deletion of <=200bpA-intron_variant
BRCA-EU143145077631450776single base substitutionTAintron_variant
BRCA-EU143145265231452652single base substitutionGTintron_variant
BRCA-EU143145360331453603single base substitutionCAintron_variant
BRCA-EU143145527231455272single base substitutionGCintron_variant
BRCA-EU143145800031458000single base substitutionATintron_variant
BRCA-EU143145811931458119single base substitutionACintron_variant
BRCA-EU143145910331459103single base substitutionTCintron_variant
BRCA-EU143146154431461544single base substitutionGCintron_variant
BRCA-EU143146395031463950single base substitutionTAintron_variant
BRCA-EU143146408731464087single base substitutionTAintron_variant
BRCA-EU143146610531466105single base substitutionGCintron_variant
BRCA-EU143146625431466254single base substitutionCGintron_variant
BRCA-EU143146850431468504single base substitutionCTintron_variant
BRCA-EU143146925431469254single base substitutionTCintron_variant
BRCA-EU143146946331469463deletion of <=200bpG-intron_variant
BRCA-EU143146946331469463insertion of <=200bp-Gintron_variant
BRCA-EU143147224731472247single base substitutionACintron_variant
BRCA-EU143147238231472382single base substitutionGCintron_variant
BRCA-EU143147331131473311single base substitutionGAintron_variant
BRCA-EU143147339431473394single base substitutionGCintron_variant
BRCA-EU143147348231473482single base substitutionGCintron_variant
BRCA-EU143147399231473992single base substitutionTAintron_variant
BRCA-EU143147403931474039single base substitutionACintron_variant
BRCA-EU143147719131477191single base substitutionGAintron_variant
BRCA-EU143147869331478693single base substitutionGAintron_variant
BRCA-EU143147888731478887single base substitutionATintron_variant
BRCA-EU143147915231479152single base substitutionTAintron_variant
BRCA-EU143148113031481130single base substitutionACintron_variant
BRCA-EU143148141131481411single base substitutionTCintron_variant
BRCA-EU143148216731482167single base substitutionAGintron_variant
BRCA-EU143148259131482591insertion of <=200bp-Aintron_variant
BRCA-EU143148270831482708deletion of <=200bpA-intron_variant
BRCA-EU143148331531483315single base substitutionTGintron_variant
BRCA-EU143148410731484107single base substitutionCTintron_variant
BRCA-EU143148784631487846single base substitutionCGintron_variant
BRCA-EU143148817831488178single base substitutionACintron_variant
BRCA-EU143148872831488728single base substitutionTCintron_variant
BRCA-EU143148955231489552single base substitutionAGintron_variant
BRCA-EU143149298331492983single base substitutionATintron_variant
BRCA-EU143149387531493875single base substitutionGAintron_variant
BRCA-EU143149620631496206single base substitutionCGupstream_gene_variant
BRCA-EU143149648231496482single base substitutionCAupstream_gene_variant
BRCA-EU143149795931497959single base substitutionATupstream_gene_variant
BRCA-EU143149912831499128single base substitutionGCupstream_gene_variant
BRCA-EU143149972231499722single base substitutionTGupstream_gene_variant
BRCA-EU143150006831500068single base substitutionGAupstream_gene_variant
BRCA-FR143136126531361265single base substitutionGCdownstream_gene_variant
BRCA-FR143136220231362202single base substitutionCTdownstream_gene_variant
BRCA-FR143137792231377922single base substitutionCTdownstream_gene_variant
BRCA-FR143137792231377922single base substitutionCTintron_variant
BRCA-FR143140705031407050single base substitutionCTintron_variant
BRCA-FR143140705031407050single base substitutionCTupstream_gene_variant
BRCA-FR143141816831418168single base substitutionGCintron_variant
BRCA-FR143141876131418761single base substitutionGAintron_variant
BRCA-FR143142118931421189single base substitutionCTintron_variant
BRCA-FR143143475031434750single base substitutionGTintron_variant
BRCA-FR143143475031434750single base substitutionGTupstream_gene_variant
BRCA-FR143143835531438355single base substitutionCGintron_variant
BRCA-FR143143835531438355single base substitutionCGupstream_gene_variant
BRCA-FR143144652631446526single base substitutionGCintron_variant
BRCA-FR143144890431448904single base substitutionCAintron_variant
BRCA-FR143144892831448928single base substitutionCGintron_variant
BRCA-FR143145360331453603single base substitutionCAintron_variant
BRCA-FR143145808031458080single base substitutionCTintron_variant
BRCA-FR143146408731464087single base substitutionTAintron_variant
BRCA-FR143146925431469254single base substitutionTCintron_variant
BRCA-FR143146934431469344single base substitutionCTintron_variant
BRCA-FR143148955231489552single base substitutionAGintron_variant
BRCA-FR143150006831500068single base substitutionGAupstream_gene_variant
BRCA-UK143136002831360028single base substitutionGAdownstream_gene_variant
BRCA-UK143137590131375901single base substitutionCTintron_variant
BRCA-UK143138031831380318single base substitutionCG3_prime_UTR_variant
BRCA-UK143138031831380318single base substitutionCGdownstream_gene_variant
BRCA-UK143138031831380318single base substitutionCGexon_variant
BRCA-UK143138031831380318single base substitutionCGmissense_variantS466T1397G>C
BRCA-UK143138031831380318single base substitutionCGmissense_variantS550T1649G>C
BRCA-UK143143278231432782single base substitutionTAintron_variant
BRCA-UK143144729031447290single base substitutionGCintron_variant
BRCA-US143136469931364699single base substitutionGC3_prime_UTR_variant
BRCA-US143136469931364699single base substitutionGCstop_gainedS687*2060C>G
BRCA-US143136469931364699single base substitutionGCstop_gainedS771*2312C>G
BRCA-US143137467031374672deletion of <=200bpTAA-3_prime_UTR_variant
BRCA-US143137467031374672deletion of <=200bpTAA-exon_variant
BRCA-US143137467031374672deletion of <=200bpTAA-inframe_deletionL577
BRCA-US143137467031374672deletion of <=200bpTAA-inframe_deletionL661
BRCA-US143138122431381224single base substitutionAC3_prime_UTR_variant
BRCA-US143138122431381224single base substitutionACdownstream_gene_variant
BRCA-US143138122431381224single base substitutionACexon_variant
BRCA-US143138122431381224single base substitutionACsynonymous_variantV429V1287T>G
BRCA-US143138122431381224single base substitutionACsynonymous_variantV513V1539T>G
BRCA-US143138130831381308single base substitutionTC3_prime_UTR_variant
BRCA-US143138130831381308single base substitutionTCdownstream_gene_variant
BRCA-US143138130831381308single base substitutionTCexon_variant
BRCA-US143138130831381308single base substitutionTCsynonymous_variantA401A1203A>G
BRCA-US143138130831381308single base substitutionTCsynonymous_variantA485A1455A>G
BRCA-US143138824731388247single base substitutionGCintron_variant
BRCA-US143138824731388247single base substitutionGCmissense_variantP389A1165C>G
BRCA-US143138824731388247single base substitutionGCmissense_variantP70A208C>G
BRCA-US143140574831405748single base substitutionCTexon_variant
BRCA-US143140574831405748single base substitutionCTmissense_variantE267K799G>A
BRCA-US143140574831405748single base substitutionCTmissense_variantE27K79G>A
BRCA-US143140574831405748single base substitutionCTupstream_gene_variant
BRCA-US143148385831483858single base substitutionGTintron_variant
BTCA-JP143136428631364286single base substitutionGA3_prime_UTR_variant
BTCA-JP143136428631364286single base substitutionGAdownstream_gene_variant
BTCA-JP143137604331376043single base substitutionATintron_variant
BTCA-JP143138131631381316single base substitutionCG3_prime_UTR_variant
BTCA-JP143138131631381316single base substitutionCGdownstream_gene_variant
BTCA-JP143138131631381316single base substitutionCGexon_variant
BTCA-JP143138131631381316single base substitutionCGmissense_variantV399L1195G>C
BTCA-JP143138131631381316single base substitutionCGmissense_variantV483L1447G>C
BTCA-JP143138271531382715single base substitutionTAdownstream_gene_variant
BTCA-JP143138271531382715single base substitutionTAintron_variant
BTCA-JP143138271531382715single base substitutionTAupstream_gene_variant
BTCA-JP143139854231398542deletion of <=200bpA-intron_variant
BTCA-JP143142016331420163deletion of <=200bpA-intron_variant
CESC-US143135893531358935single base substitutionGTdownstream_gene_variant
CESC-US143135895031358950single base substitutionGCdownstream_gene_variant
CLLE-ES143137263431372634single base substitutionGAdownstream_gene_variant
CLLE-ES143137263431372634single base substitutionGAintron_variant
CLLE-ES143138684331386843single base substitutionACintron_variant
CLLE-ES143139502831395028single base substitutionTCintron_variant
CLLE-ES143141458831414588single base substitutionCAdownstream_gene_variant
CLLE-ES143141458831414588single base substitutionCAintron_variant
CLLE-ES143143505631435056single base substitutionGAintron_variant
CLLE-ES143143505631435056single base substitutionGAupstream_gene_variant
CLLE-ES143144403231444032single base substitutionAGintron_variant
CLLE-ES143146098331460983single base substitutionGAintron_variant
CLLE-ES143147140231471402single base substitutionAGintron_variant
CLLE-ES143147976631479766single base substitutionTAintron_variant
CLLE-ES143148605731486057single base substitutionAGintron_variant
COAD-US143137612231376122deletion of <=200bpC-3_prime_UTR_variant
COAD-US143137612231376122deletion of <=200bpC-exon_variant
COAD-US143137612231376122deletion of <=200bpC-frameshift_variantE533
COAD-US143137612231376122deletion of <=200bpC-frameshift_variantE617
COAD-US143138131631381316single base substitutionCT3_prime_UTR_variant
COAD-US143138131631381316single base substitutionCTdownstream_gene_variant
COAD-US143138131631381316single base substitutionCTexon_variant
COAD-US143138131631381316single base substitutionCTmissense_variantV399I1195G>A
COAD-US143138131631381316single base substitutionCTmissense_variantV483I1447G>A
COAD-US143138135131381351single base substitutionTC3_prime_UTR_variant
COAD-US143138135131381351single base substitutionTCdownstream_gene_variant
COAD-US143138135131381351single base substitutionTCexon_variant
COAD-US143138135131381351single base substitutionTCmissense_variantN387S1160A>G
COAD-US143138135131381351single base substitutionTCmissense_variantN471S1412A>G
COAD-US143142537231425372single base substitutionACexon_variant
COAD-US143142537231425372single base substitutionACmissense_variantM120R359T>G
COAD-US143142537231425372single base substitutionACstart_lostM1R2T>G
COAD-US143142542031425420single base substitutionCA5_prime_UTR_variant
COAD-US143142542031425420single base substitutionCAexon_variant
COAD-US143142542031425420single base substitutionCAmissense_variantR104I311G>T
COAD-US143142543731425437single base substitutionTC5_prime_UTR_variant
COAD-US143142543731425437single base substitutionTCexon_variant
COAD-US143142543731425437single base substitutionTCsynonymous_variantA98A294A>G
COCA-CN143138022831380228single base substitutionTCdownstream_gene_variant
COCA-CN143138022831380228single base substitutionTCintron_variant
COCA-CN143138287631382876single base substitutionACintron_variant
COCA-CN143138287631382876single base substitutionACupstream_gene_variant
COCA-CN143138291431382914single base substitutionGTintron_variant
COCA-CN143138291431382914single base substitutionGTupstream_gene_variant
COCA-CN143140593231405932single base substitutionCTintron_variant
COCA-CN143140593231405932single base substitutionCTupstream_gene_variant
COCA-CN143142019031420190single base substitutionCTintron_variant
COCA-CN143144448631444486single base substitutionTCintron_variant
COCA-CN143145666931456669single base substitutionCAintron_variant
EOPC-DE143137171731371717single base substitutionTGdownstream_gene_variant
EOPC-DE143137171731371717single base substitutionTGintron_variant
EOPC-DE143139465831394658single base substitutionGTintron_variant
EOPC-DE143143889631438896single base substitutionTAintron_variant
EOPC-DE143145428431454284single base substitutionAGintron_variant
ESAD-UK143135963231359632single base substitutionCAdownstream_gene_variant
ESAD-UK143136123231361232single base substitutionGAdownstream_gene_variant
ESAD-UK143136203231362032single base substitutionACdownstream_gene_variant
ESAD-UK143136415531364155single base substitutionCG3_prime_UTR_variant
ESAD-UK143136415531364155single base substitutionCGdownstream_gene_variant
ESAD-UK143136894831368948deletion of <=200bpC-intron_variant
ESAD-UK143137022531370225single base substitutionTGdownstream_gene_variant
ESAD-UK143137022531370225single base substitutionTGintron_variant
ESAD-UK143137591931375919single base substitutionCGintron_variant
ESAD-UK143137649931376501deletion of <=200bpTTA-downstream_gene_variant
ESAD-UK143137649931376501deletion of <=200bpTTA-intron_variant
ESAD-UK143137770031377700single base substitutionTAdownstream_gene_variant
ESAD-UK143137770031377700single base substitutionTAintron_variant
ESAD-UK143137851731378517single base substitutionCTdownstream_gene_variant
ESAD-UK143137851731378517single base substitutionCTintron_variant
ESAD-UK143137985031379850deletion of <=200bpT-downstream_gene_variant
ESAD-UK143137985031379850deletion of <=200bpT-intron_variant
ESAD-UK143138201231382012single base substitutionTCdownstream_gene_variant
ESAD-UK143138201231382012single base substitutionTCintron_variant
ESAD-UK143138201231382012single base substitutionTCupstream_gene_variant
ESAD-UK143138207931382079single base substitutionGAdownstream_gene_variant
ESAD-UK143138207931382079single base substitutionGAintron_variant
ESAD-UK143138207931382079single base substitutionGAupstream_gene_variant
ESAD-UK143138355731383557insertion of <=200bp-TTTAintron_variant
ESAD-UK143138355731383557insertion of <=200bp-TTTAupstream_gene_variant
ESAD-UK143138546131385461single base substitutionGAintron_variant
ESAD-UK143138546131385461single base substitutionGAupstream_gene_variant
ESAD-UK143138691731386917deletion of <=200bpT-intron_variant
ESAD-UK143138827731388277single base substitutionCAintron_variant
ESAD-UK143138827731388277single base substitutionCAmissense_variantD379Y1135G>T
ESAD-UK143138827731388277single base substitutionCAmissense_variantD60Y178G>T
ESAD-UK143139004231390042single base substitutionTAintron_variant
ESAD-UK143139307131393071single base substitutionCTintron_variant
ESAD-UK143139413931394139single base substitutionACintron_variant
ESAD-UK143139501431395014single base substitutionTCintron_variant
ESAD-UK143139633731396337single base substitutionCTintron_variant
ESAD-UK143139790031397900deletion of <=200bpA-intron_variant
ESAD-UK143139843431398434single base substitutionCTintron_variant
ESAD-UK143139843431398434single base substitutionCTmissense_variantE118K352G>A
ESAD-UK143139843431398434single base substitutionCTmissense_variantE358K1072G>A
ESAD-UK143139922031399220insertion of <=200bp-Tintron_variant
ESAD-UK143140054831400548single base substitutionAGintron_variant
ESAD-UK143140243731402437single base substitutionACintron_variant
ESAD-UK143140243731402437single base substitutionACupstream_gene_variant
ESAD-UK143140334931403349single base substitutionGCintron_variant
ESAD-UK143140334931403349single base substitutionGCupstream_gene_variant
ESAD-UK143140705231407052single base substitutionCGintron_variant
ESAD-UK143140705231407052single base substitutionCGupstream_gene_variant
ESAD-UK143141035031410350single base substitutionAGintron_variant
ESAD-UK143141035031410350single base substitutionAGupstream_gene_variant
ESAD-UK143141203631412036single base substitutionCAdownstream_gene_variant
ESAD-UK143141203631412036single base substitutionCAintron_variant
ESAD-UK143141217531412175single base substitutionCGdownstream_gene_variant
ESAD-UK143141217531412175single base substitutionCGintron_variant
ESAD-UK143141763831417638single base substitutionGAintron_variant
ESAD-UK143142412531424125single base substitutionAGintron_variant
ESAD-UK143142544531425445single base substitutionGA5_prime_UTR_premature_start_codon_gain_variant
ESAD-UK143142544531425445single base substitutionGAexon_variant
ESAD-UK143142544531425445single base substitutionGAmissense_variantR96W286C>T
ESAD-UK143142849731428497single base substitutionCAintron_variant
ESAD-UK143143076931430769single base substitutionCTintron_variant
ESAD-UK143143098231430982single base substitutionATintron_variant
ESAD-UK143143413831434138single base substitutionGAintron_variant
ESAD-UK143143413831434138single base substitutionGAupstream_gene_variant
ESAD-UK143143413931434139single base substitutionAGintron_variant
ESAD-UK143143413931434139single base substitutionAGupstream_gene_variant
ESAD-UK143143473531434735single base substitutionAGintron_variant
ESAD-UK143143473531434735single base substitutionAGupstream_gene_variant
ESAD-UK143143815831438158single base substitutionATintron_variant
ESAD-UK143143815831438158single base substitutionATupstream_gene_variant
ESAD-UK143143902231439022single base substitutionCAintron_variant
ESAD-UK143144233831442338single base substitutionCTintron_variant
ESAD-UK143144491431444914single base substitutionCTintron_variant
ESAD-UK143144713031447130single base substitutionATintron_variant
ESAD-UK143144987631449876single base substitutionGTintron_variant
ESAD-UK143145035531450355insertion of <=200bp-Aintron_variant
ESAD-UK143145221331452213single base substitutionGCintron_variant
ESAD-UK143145340531453405single base substitutionCAintron_variant
ESAD-UK143145449431454494single base substitutionATintron_variant
ESAD-UK143145512831455128single base substitutionCTintron_variant
ESAD-UK143145789731457897single base substitutionCAintron_variant
ESAD-UK143145876831458768single base substitutionGAintron_variant
ESAD-UK143145915331459153single base substitutionCAintron_variant
ESAD-UK143146015731460157single base substitutionGCintron_variant
ESAD-UK143146251531462515single base substitutionACintron_variant
ESAD-UK143146433731464337single base substitutionGAintron_variant
ESAD-UK143146745331467453single base substitutionCTintron_variant
ESAD-UK143146907431469074single base substitutionGAintron_variant
ESAD-UK143147082531470825single base substitutionTCintron_variant
ESAD-UK143147086531470865single base substitutionGAintron_variant
ESAD-UK143147317231473172single base substitutionAGintron_variant
ESAD-UK143147338431473384single base substitutionGAintron_variant
ESAD-UK143147451731474517single base substitutionGAintron_variant
ESAD-UK143147581131475811single base substitutionGCintron_variant
ESAD-UK143147777731477777single base substitutionATintron_variant
ESAD-UK143147868031478680insertion of <=200bp-Cintron_variant
ESAD-UK143148281431482814deletion of <=200bpT-intron_variant
ESAD-UK143148409331484093single base substitutionGCintron_variant
ESAD-UK143148414831484148single base substitutionCAintron_variant
ESAD-UK143148600831486008single base substitutionCAintron_variant
ESAD-UK143148676131486761insertion of <=200bp-TGTintron_variant
ESAD-UK143149051631490516single base substitutionTCintron_variant
ESAD-UK143149075831490758single base substitutionACintron_variant
ESAD-UK143149214931492149single base substitutionGCintron_variant
ESAD-UK143149258731492587single base substitutionACintron_variant
ESAD-UK143149349031493490single base substitutionGAintron_variant
ESAD-UK143149374431493744deletion of <=200bpT-intron_variant
ESAD-UK143149485631494856single base substitutionCTintron_variant
ESAD-UK143149546431495464single base substitutionCG5_prime_UTR_variant
ESAD-UK143149711331497113single base substitutionACupstream_gene_variant
ESAD-UK143149824631498246insertion of <=200bp-Aupstream_gene_variant
GBM-US143142540931425409single base substitutionCA5_prime_UTR_variant
GBM-US143142540931425409single base substitutionCAexon_variant
GBM-US143142540931425409single base substitutionCAstop_gainedE108*322G>T
KIRC-US143135888231358882insertion of <=200bp-Tdownstream_gene_variant
KIRC-US143137611531376115single base substitutionAT3_prime_UTR_variant
KIRC-US143137611531376115single base substitutionATexon_variant
KIRC-US143137611531376115single base substitutionATstop_gainedL535*1604T>A
KIRC-US143137611531376115single base substitutionATstop_gainedL619*1856T>A
KIRC-US143140444331404443single base substitutionATexon_variant
KIRC-US143140444331404443single base substitutionATmissense_variantF23Y68T>A
KIRC-US143140444331404443single base substitutionATmissense_variantF305Y914T>A
KIRC-US143140444331404443single base substitutionATmissense_variantF65Y194T>A
KIRC-US143140444331404443single base substitutionATupstream_gene_variant
KIRC-US143141646531416465single base substitutionGTexon_variant
KIRC-US143141646531416465single base substitutionGTmissense_variantL183I547C>A
KIRC-US143141646531416465single base substitutionGTmissense_variantL64I190C>A
LAML-KR143138019131380191single base substitutionTGdownstream_gene_variant
LAML-KR143138019131380191single base substitutionTGintron_variant
LAML-KR143139917331399173single base substitutionACintron_variant
LAML-KR143142633031426330single base substitutionTCintron_variant
LAML-KR143144612531446125single base substitutionAGintron_variant
LAML-KR143147110931471109single base substitutionTCintron_variant
LGG-US143138028031380280single base substitutionGA3_prime_UTR_variant
LGG-US143138028031380280single base substitutionGAdownstream_gene_variant
LGG-US143138028031380280single base substitutionGAexon_variant
LGG-US143138028031380280single base substitutionGAmissense_variantP479S1435C>T
LGG-US143138028031380280single base substitutionGAmissense_variantP563S1687C>T
LICA-CN143136465431364654single base substitutionCA3_prime_UTR_variant
LICA-CN143136465431364654single base substitutionCAmissense_variantS702I2105G>T
LICA-CN143136465431364654single base substitutionCAmissense_variantS786I2357G>T
LICA-CN143149513731495137single base substitutionGCexon_variant
LICA-CN143149513731495137single base substitutionGCmissense_variantH85Q255C>G
LICA-FR143138721831387218single base substitutionTCintron_variant
LICA-FR143139225531392255single base substitutionTAintron_variant
LICA-FR143141382831413829deletion of <=200bpTT-downstream_gene_variant
LICA-FR143141382831413829deletion of <=200bpTT-intron_variant
LICA-FR143141618631416186insertion of <=200bp-Adownstream_gene_variant
LICA-FR143141618631416186insertion of <=200bp-Aintron_variant
LICA-FR143143820431438204single base substitutionTCintron_variant
LICA-FR143143820431438204single base substitutionTCupstream_gene_variant
LICA-FR143144381431443814insertion of <=200bp-Aintron_variant
LICA-FR143147532531475325insertion of <=200bp-Aintron_variant
LIHC-US143138285531382855single base substitutionTCintron_variant
LIHC-US143138285531382855single base substitutionTCmissense_variantI130V388A>G
LIHC-US143138285531382855single base substitutionTCmissense_variantI333V997A>G
LIHC-US143138285531382855single base substitutionTCmissense_variantI417V1249A>G
LIHC-US143138285531382855single base substitutionTCmissense_variantI98V292A>G
LIHC-US143138285531382855single base substitutionTCupstream_gene_variant
LINC-JP143135879931358799single base substitutionATdownstream_gene_variant
LINC-JP143135895831358958single base substitutionCTdownstream_gene_variant
LINC-JP143136188131361881single base substitutionCTdownstream_gene_variant
LINC-JP143136384231363842single base substitutionTC3_prime_UTR_variant
LINC-JP143136384231363842single base substitutionTCdownstream_gene_variant
LINC-JP143136416631364166single base substitutionAC3_prime_UTR_variant
LINC-JP143136416631364166single base substitutionACdownstream_gene_variant
LINC-JP143136428631364286single base substitutionGA3_prime_UTR_variant
LINC-JP143136428631364286single base substitutionGAdownstream_gene_variant
LINC-JP143136499631364996single base substitutionTCintron_variant
LINC-JP143136955831369558single base substitutionTCintron_variant
LINC-JP143137225231372252single base substitutionATdownstream_gene_variant
LINC-JP143137225231372252single base substitutionATintron_variant
LINC-JP143140453631404536single base substitutionTCintron_variant
LINC-JP143140453631404536single base substitutionTCupstream_gene_variant
LINC-JP143140761631407616single base substitutionTAintron_variant
LINC-JP143140761631407616single base substitutionTAupstream_gene_variant
LINC-JP143142186731421867single base substitutionTCintron_variant
LINC-JP143143374031433740single base substitutionTCintron_variant
LINC-JP143143374031433740single base substitutionTCupstream_gene_variant
LINC-JP143147609731476097single base substitutionTAintron_variant
LINC-JP143148303431483034single base substitutionCTintron_variant
LINC-JP143148306831483068insertion of <=200bp-TTTintron_variant
LINC-JP143148397631483976single base substitutionTAintron_variant
LINC-JP143148926031489260single base substitutionTCintron_variant
LIRI-JP143135853531358535single base substitutionTCdownstream_gene_variant
LIRI-JP143136097831360978single base substitutionTCdownstream_gene_variant
LIRI-JP143136299231362992single base substitutionACdownstream_gene_variant
LIRI-JP143136350431363504single base substitutionGA3_prime_UTR_variant
LIRI-JP143136350431363504single base substitutionGAdownstream_gene_variant
LIRI-JP143136901631369016single base substitutionTCintron_variant
LIRI-JP143136990431369904single base substitutionGAdownstream_gene_variant
LIRI-JP143136990431369904single base substitutionGAintron_variant
LIRI-JP143137077431370774single base substitutionTCdownstream_gene_variant
LIRI-JP143137077431370774single base substitutionTCintron_variant
LIRI-JP143137574131375741single base substitutionTGintron_variant
LIRI-JP143137711631377116single base substitutionCAdownstream_gene_variant
LIRI-JP143137711631377116single base substitutionCAintron_variant
LIRI-JP143137772031377720single base substitutionCTdownstream_gene_variant
LIRI-JP143137772031377720single base substitutionCTintron_variant
LIRI-JP143138109731381100deletion of <=200bpATTA-downstream_gene_variant
LIRI-JP143138109731381100deletion of <=200bpATTA-intron_variant
LIRI-JP143138455031384550single base substitutionCTintron_variant
LIRI-JP143138455031384550single base substitutionCTupstream_gene_variant
LIRI-JP143138461331384613deletion of <=200bpG-intron_variant
LIRI-JP143138461331384613deletion of <=200bpG-upstream_gene_variant
LIRI-JP143138589131385891single base substitutionCTintron_variant
LIRI-JP143138589131385891single base substitutionCTupstream_gene_variant
LIRI-JP143138599331385993single base substitutionTCintron_variant
LIRI-JP143138599331385993single base substitutionTCupstream_gene_variant
LIRI-JP143138666831386668single base substitutionACintron_variant
LIRI-JP143138671931386719single base substitutionATintron_variant
LIRI-JP143138746631387466single base substitutionCAintron_variant
LIRI-JP143138751031387510single base substitutionCAintron_variant
LIRI-JP143138787431387874single base substitutionTCintron_variant
LIRI-JP143138852331388523single base substitutionTCintron_variant
LIRI-JP143138881831388818single base substitutionTCintron_variant
LIRI-JP143139168531391685single base substitutionCTintron_variant
LIRI-JP143139208931392089single base substitutionTCintron_variant
LIRI-JP143139236131392361single base substitutionACintron_variant
LIRI-JP143139237931392379single base substitutionAGintron_variant
LIRI-JP143139366531393665single base substitutionTCintron_variant
LIRI-JP143139369131393691single base substitutionTCintron_variant
LIRI-JP143139531231395312single base substitutionCTintron_variant
LIRI-JP143139633031396330single base substitutionACintron_variant
LIRI-JP143140107931401079single base substitutionAGintron_variant
LIRI-JP143140130631401306single base substitutionCTexon_variant
LIRI-JP143140130631401306single base substitutionCTintron_variant
LIRI-JP143140299631402996single base substitutionAGintron_variant
LIRI-JP143140299631402996single base substitutionAGupstream_gene_variant
LIRI-JP143140340231403402single base substitutionCTintron_variant
LIRI-JP143140340231403402single base substitutionCTupstream_gene_variant
LIRI-JP143140451031404510single base substitutionTAmissense_variantI1L1A>T
LIRI-JP143140451031404510single base substitutionTAmissense_variantI283L847A>T
LIRI-JP143140451031404510single base substitutionTAmissense_variantI43L127A>T
LIRI-JP143140451031404510single base substitutionTAsplice_region_variant
LIRI-JP143140451031404510single base substitutionTAupstream_gene_variant
LIRI-JP143140525831405258single base substitutionACintron_variant
LIRI-JP143140525831405258single base substitutionACupstream_gene_variant
LIRI-JP143140609031406090single base substitutionTCintron_variant
LIRI-JP143140609031406090single base substitutionTCupstream_gene_variant
LIRI-JP143140657031406570single base substitutionTCintron_variant
LIRI-JP143140657031406570single base substitutionTCupstream_gene_variant
LIRI-JP143140871431408714single base substitutionAGintron_variant
LIRI-JP143140871431408714single base substitutionAGupstream_gene_variant
LIRI-JP143140899331408993single base substitutionTGintron_variant
LIRI-JP143140899331408993single base substitutionTGupstream_gene_variant
LIRI-JP143141006531410065single base substitutionAGintron_variant
LIRI-JP143141006531410065single base substitutionAGupstream_gene_variant
LIRI-JP143141221831412218single base substitutionTAdownstream_gene_variant
LIRI-JP143141221831412218single base substitutionTAintron_variant
LIRI-JP143141750831417508single base substitutionTCintron_variant
LIRI-JP143141772431417724single base substitutionTCintron_variant
LIRI-JP143141791131417911single base substitutionTCintron_variant
LIRI-JP143141827331418273single base substitutionTCintron_variant
LIRI-JP143141997031419970single base substitutionCAintron_variant
LIRI-JP143142567631425676single base substitutionTCintron_variant
LIRI-JP143142576631425766single base substitutionCTintron_variant
LIRI-JP143142696931426969single base substitutionGCintron_variant
LIRI-JP143142909631429096single base substitutionACintron_variant
LIRI-JP143143259231432592single base substitutionTCintron_variant
LIRI-JP143143282331432823single base substitutionCTintron_variant
LIRI-JP143143305831433058single base substitutionGAintron_variant
LIRI-JP143143589531435895single base substitutionCTintron_variant
LIRI-JP143143589531435895single base substitutionCTupstream_gene_variant
LIRI-JP143143988031439880single base substitutionCAintron_variant
LIRI-JP143144020831440208single base substitutionGAintron_variant
LIRI-JP143144126431441264single base substitutionTCintron_variant
LIRI-JP143144145331441453single base substitutionCTintron_variant
LIRI-JP143144288331442883single base substitutionTCintron_variant
LIRI-JP143144401831444018single base substitutionTCintron_variant
LIRI-JP143144408331444083single base substitutionCTintron_variant
LIRI-JP143144759331447593single base substitutionTCintron_variant
LIRI-JP143144780331447803single base substitutionTCintron_variant
LIRI-JP143144911631449116single base substitutionTCintron_variant
LIRI-JP143144941931449419single base substitutionAGintron_variant
LIRI-JP143144980031449800single base substitutionGAintron_variant
LIRI-JP143145023431450234single base substitutionCAintron_variant
LIRI-JP143145173031451730single base substitutionGAintron_variant
LIRI-JP143145381631453816single base substitutionTCintron_variant
LIRI-JP143145384531453845single base substitutionGAintron_variant
LIRI-JP143145489431454894single base substitutionACintron_variant
LIRI-JP143145595731455957single base substitutionTCintron_variant
LIRI-JP143145628631456286single base substitutionTCintron_variant
LIRI-JP143145858531458585insertion of <=200bp-Aintron_variant
LIRI-JP143146434331464343single base substitutionCAintron_variant
LIRI-JP143146832031468320single base substitutionCTintron_variant
LIRI-JP143146902731469027single base substitutionAGintron_variant
LIRI-JP143147014531470145single base substitutionAGintron_variant
LIRI-JP143147018731470187single base substitutionTGintron_variant
LIRI-JP143147355231473552single base substitutionCTintron_variant
LIRI-JP143147374531473745single base substitutionCTintron_variant
LIRI-JP143147475831474758single base substitutionTCintron_variant
LIRI-JP143147605831476058single base substitutionTGintron_variant
LIRI-JP143147724331477243single base substitutionTCintron_variant
LIRI-JP143147832331478323single base substitutionATintron_variant
LIRI-JP143147978031479780single base substitutionTCintron_variant
LIRI-JP143147988131479881single base substitutionAGintron_variant
LIRI-JP143148046131480461single base substitutionATintron_variant
LIRI-JP143148479631484796single base substitutionCGintron_variant
LIRI-JP143148698831486989deletion of <=200bpAC-intron_variant
LIRI-JP143148700631487006single base substitutionCTintron_variant
LIRI-JP143148865131488651single base substitutionTCintron_variant
LIRI-JP143148987131489871single base substitutionTGintron_variant
LIRI-JP143149140331491403single base substitutionGTintron_variant
LIRI-JP143149160931491609single base substitutionTCintron_variant
LIRI-JP143149431931494319single base substitutionTGintron_variant
LIRI-JP143149447631494476single base substitutionGTintron_variant
LIRI-JP143149617931496179single base substitutionACupstream_gene_variant
LIRI-JP143150024631500246single base substitutionCGupstream_gene_variant
LIRI-JP143150040431500404single base substitutionGAupstream_gene_variant
LIRI-JP143150040531500405single base substitutionCAupstream_gene_variant
LUSC-CN143138126231381262single base substitutionCG3_prime_UTR_variant
LUSC-CN143138126231381262single base substitutionCGdownstream_gene_variant
LUSC-CN143138126231381262single base substitutionCGexon_variant
LUSC-CN143138126231381262single base substitutionCGmissense_variantD417H1249G>C
LUSC-CN143138126231381262single base substitutionCGmissense_variantD501H1501G>C
LUSC-KR143136129031361290single base substitutionACdownstream_gene_variant
LUSC-KR143137320731373207single base substitutionTCdownstream_gene_variant
LUSC-KR143137320731373207single base substitutionTCintron_variant
LUSC-KR143137531531375315single base substitutionTAintron_variant
LUSC-KR143137544631375446single base substitutionCTintron_variant
LUSC-KR143137732331377323single base substitutionCAdownstream_gene_variant
LUSC-KR143137732331377323single base substitutionCAintron_variant
LUSC-KR143137776831377768single base substitutionTCdownstream_gene_variant
LUSC-KR143137776831377768single base substitutionTCintron_variant
LUSC-KR143139416131394161single base substitutionCAintron_variant
LUSC-KR143141669131416691single base substitutionGAintron_variant
LUSC-KR143141924631419246single base substitutionCTintron_variant
LUSC-KR143142182831421828single base substitutionCAintron_variant
LUSC-KR143142182931421829single base substitutionCAintron_variant
LUSC-KR143142208931422089single base substitutionCAintron_variant
LUSC-KR143142356931423569single base substitutionTAintron_variant
LUSC-KR143143463131434631single base substitutionGCintron_variant
LUSC-KR143143463131434631single base substitutionGCupstream_gene_variant
LUSC-KR143143729331437293single base substitutionTCintron_variant
LUSC-KR143143729331437293single base substitutionTCupstream_gene_variant
LUSC-KR143143757531437575single base substitutionTAintron_variant
LUSC-KR143143757531437575single base substitutionTAupstream_gene_variant
LUSC-KR143143815831438158single base substitutionATintron_variant
LUSC-KR143143815831438158single base substitutionATupstream_gene_variant
LUSC-KR143143983831439838single base substitutionCAintron_variant
LUSC-KR143144692131446921single base substitutionCAintron_variant
LUSC-KR143146244231462442single base substitutionCAintron_variant
LUSC-KR143146803731468037single base substitutionGCintron_variant
LUSC-KR143146819831468198single base substitutionTCintron_variant
LUSC-KR143148401531484015single base substitutionACintron_variant
LUSC-KR143148848331488483single base substitutionCAintron_variant
LUSC-KR143149828631498286single base substitutionGAupstream_gene_variant
LUSC-US143137620631376206single base substitutionCA3_prime_UTR_variant
LUSC-US143137620631376206single base substitutionCAexon_variant
LUSC-US143137620631376206single base substitutionCAmissense_variantV505F1513G>T
LUSC-US143137620631376206single base substitutionCAmissense_variantV589F1765G>T
LUSC-US143138100331381003single base substitutionGC3_prime_UTR_variant
LUSC-US143138100331381003single base substitutionGCdownstream_gene_variant
LUSC-US143138100331381003single base substitutionGCexon_variant
LUSC-US143138100331381003single base substitutionGCmissense_variantI442M1326C>G
LUSC-US143138100331381003single base substitutionGCmissense_variantI526M1578C>G
LUSC-US143138282731382827single base substitutionGAintron_variant
LUSC-US143138282731382827single base substitutionGAmissense_variantS107L320C>T
LUSC-US143138282731382827single base substitutionGAmissense_variantS139L416C>T
LUSC-US143138282731382827single base substitutionGAmissense_variantS342L1025C>T
LUSC-US143138282731382827single base substitutionGAmissense_variantS426L1277C>T
LUSC-US143138282731382827single base substitutionGAupstream_gene_variant
LUSC-US143148388431483884single base substitutionCTintron_variant
MALY-DE143136183431361834single base substitutionTCdownstream_gene_variant
MALY-DE143136322131363221single base substitutionTG3_prime_UTR_variant
MALY-DE143136322131363221single base substitutionTGdownstream_gene_variant
MALY-DE143137763031377630single base substitutionGCdownstream_gene_variant
MALY-DE143137763031377630single base substitutionGCintron_variant
MALY-DE143138378731383787single base substitutionAGintron_variant
MALY-DE143138378731383787single base substitutionAGupstream_gene_variant
MALY-DE143139657131396571single base substitutionTCintron_variant
MALY-DE143140217631402176single base substitutionATintron_variant
MALY-DE143140217631402176single base substitutionATupstream_gene_variant
MALY-DE143140923631409236deletion of <=200bpT-intron_variant
MALY-DE143140923631409236deletion of <=200bpT-upstream_gene_variant
MALY-DE143142347831423478single base substitutionTCintron_variant
MALY-DE143142631331426313single base substitutionGAintron_variant
MALY-DE143143573331435733single base substitutionACintron_variant
MALY-DE143143573331435733single base substitutionACupstream_gene_variant
MALY-DE143145000531450005single base substitutionATintron_variant
MALY-DE143145854231458542single base substitutionGAintron_variant
MALY-DE143146940531469405single base substitutionAGintron_variant
MALY-DE143146953231469532single base substitutionGAintron_variant
MALY-DE143147179731471797single base substitutionACintron_variant
MALY-DE143147615031476150single base substitutionGAintron_variant
MALY-DE143147615331476153single base substitutionGAintron_variant
MALY-DE143147748531477485single base substitutionGTintron_variant
MALY-DE143147872331478723single base substitutionGCintron_variant
MALY-DE143148083931480839single base substitutionATintron_variant
MALY-DE143148564331485643single base substitutionCTintron_variant
MELA-AU143135805531358055single base substitutionCTdownstream_gene_variant
MELA-AU143135817031358170single base substitutionGAdownstream_gene_variant
MELA-AU143135838731358387single base substitutionGAdownstream_gene_variant
MELA-AU143135842331358424multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU143135854531358545single base substitutionGAdownstream_gene_variant
MELA-AU143135868931358690multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU143135952931359529single base substitutionGAdownstream_gene_variant
MELA-AU143135985731359857single base substitutionCTdownstream_gene_variant
MELA-AU143136093931360939single base substitutionGAdownstream_gene_variant
MELA-AU143136107231361072single base substitutionGAdownstream_gene_variant
MELA-AU143136122431361224single base substitutionGAdownstream_gene_variant
MELA-AU143136178531361785single base substitutionGAdownstream_gene_variant
MELA-AU143136419831364199multiple base substitution (>=2bp and <=200bp)GGAA3_prime_UTR_variant
MELA-AU143136419831364199multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU143136518031365180single base substitutionGAintron_variant
MELA-AU143136520331365203single base substitutionGAintron_variant
MELA-AU143136573331365733single base substitutionGAintron_variant
MELA-AU143136579731365797single base substitutionGAintron_variant
MELA-AU143136580131365801single base substitutionGAintron_variant
MELA-AU143136581131365811single base substitutionGAintron_variant
MELA-AU143136679731366797single base substitutionGAintron_variant
MELA-AU143136739031367390single base substitutionCTintron_variant
MELA-AU143136776231367763multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143136798231367982single base substitutionGAintron_variant
MELA-AU143136849431368494single base substitutionGAintron_variant
MELA-AU143136907131369071single base substitutionGAintron_variant
MELA-AU143137024331370244multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU143137024331370244multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143137070831370709multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU143137070831370709multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143137119331371193single base substitutionGAdownstream_gene_variant
MELA-AU143137119331371193single base substitutionGAintron_variant
MELA-AU143137192231371922single base substitutionCTdownstream_gene_variant
MELA-AU143137192231371922single base substitutionCTintron_variant
MELA-AU143137211031372111multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU143137211031372111multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143137292231372922single base substitutionACdownstream_gene_variant
MELA-AU143137292231372922single base substitutionACintron_variant
MELA-AU143137299731372997single base substitutionGAdownstream_gene_variant
MELA-AU143137299731372997single base substitutionGAintron_variant
MELA-AU143137332031373320single base substitutionAGdownstream_gene_variant
MELA-AU143137332031373320single base substitutionAGintron_variant
MELA-AU143137348231373482single base substitutionGAdownstream_gene_variant
MELA-AU143137348231373482single base substitutionGAintron_variant
MELA-AU143137382731373827single base substitutionGAdownstream_gene_variant
MELA-AU143137382731373827single base substitutionGAintron_variant
MELA-AU143137415931374159single base substitutionTAdownstream_gene_variant
MELA-AU143137415931374159single base substitutionTAintron_variant
MELA-AU143137460231374602single base substitutionAGdownstream_gene_variant
MELA-AU143137460231374602single base substitutionAGintron_variant
MELA-AU143137540431375404single base substitutionTAintron_variant
MELA-AU143137587331375873single base substitutionGAintron_variant
MELA-AU143137587431375874single base substitutionGAintron_variant
MELA-AU143137625631376256single base substitutionGAsplice_region_variant
MELA-AU143137713631377136single base substitutionCTdownstream_gene_variant
MELA-AU143137713631377136single base substitutionCTintron_variant
MELA-AU143137780631377806single base substitutionGAdownstream_gene_variant
MELA-AU143137780631377806single base substitutionGAintron_variant
MELA-AU143137810131378101single base substitutionCTdownstream_gene_variant
MELA-AU143137810131378101single base substitutionCTintron_variant
MELA-AU143137826031378260single base substitutionCTdownstream_gene_variant
MELA-AU143137826031378260single base substitutionCTintron_variant
MELA-AU143137908631379086single base substitutionTCdownstream_gene_variant
MELA-AU143137908631379086single base substitutionTCintron_variant
MELA-AU143138040931380409single base substitutionCTdownstream_gene_variant
MELA-AU143138040931380409single base substitutionCTintron_variant
MELA-AU143138104131381041single base substitutionGAdownstream_gene_variant
MELA-AU143138104131381041single base substitutionGAintron_variant
MELA-AU143138126731381267single base substitutionGA3_prime_UTR_variant
MELA-AU143138126731381267single base substitutionGAdownstream_gene_variant
MELA-AU143138126731381267single base substitutionGAexon_variant
MELA-AU143138126731381267single base substitutionGAmissense_variantS415F1244C>T
MELA-AU143138126731381267single base substitutionGAmissense_variantS499F1496C>T
MELA-AU143138139631381396single base substitutionGAdownstream_gene_variant
MELA-AU143138139631381396single base substitutionGAexon_variant
MELA-AU143138139631381396single base substitutionGAintron_variant
MELA-AU143138139631381396single base substitutionGAsplice_region_variant
MELA-AU143138218931382189single base substitutionATdownstream_gene_variant
MELA-AU143138218931382189single base substitutionATintron_variant
MELA-AU143138218931382189single base substitutionATupstream_gene_variant
MELA-AU143138219531382195single base substitutionTCdownstream_gene_variant
MELA-AU143138219531382195single base substitutionTCintron_variant
MELA-AU143138219531382195single base substitutionTCupstream_gene_variant
MELA-AU143138243031382430single base substitutionTCdownstream_gene_variant
MELA-AU143138243031382430single base substitutionTCintron_variant
MELA-AU143138243031382430single base substitutionTCupstream_gene_variant
MELA-AU143138282131382821single base substitutionACintron_variant
MELA-AU143138282131382821single base substitutionACmissense_variantI109S326T>G
MELA-AU143138282131382821single base substitutionACmissense_variantI141S422T>G
MELA-AU143138282131382821single base substitutionACmissense_variantI344S1031T>G
MELA-AU143138282131382821single base substitutionACmissense_variantI428S1283T>G
MELA-AU143138282131382821single base substitutionACupstream_gene_variant
MELA-AU143138360331383603single base substitutionGAintron_variant
MELA-AU143138360331383603single base substitutionGAupstream_gene_variant
MELA-AU143138512531385125single base substitutionATintron_variant
MELA-AU143138512531385125single base substitutionATupstream_gene_variant
MELA-AU143138516431385164single base substitutionAGintron_variant
MELA-AU143138516431385164single base substitutionAGupstream_gene_variant
MELA-AU143138569431385694single base substitutionGAintron_variant
MELA-AU143138569431385694single base substitutionGAupstream_gene_variant
MELA-AU143138590331385903single base substitutionTGintron_variant
MELA-AU143138590331385903single base substitutionTGupstream_gene_variant
MELA-AU143138597631385976single base substitutionGAintron_variant
MELA-AU143138597631385976single base substitutionGAupstream_gene_variant
MELA-AU143138615931386159single base substitutionGAintron_variant
MELA-AU143138615931386159single base substitutionGAupstream_gene_variant
MELA-AU143138635131386351single base substitutionGAintron_variant
MELA-AU143138635131386351single base substitutionGAupstream_gene_variant
MELA-AU143138656831386568single base substitutionGAintron_variant
MELA-AU143138673031386730single base substitutionGAintron_variant
MELA-AU143138769831387698single base substitutionGAintron_variant
MELA-AU143138771831387718single base substitutionGAintron_variant
MELA-AU143138771931387719single base substitutionAGintron_variant
MELA-AU143138866331388663single base substitutionGAintron_variant
MELA-AU143138913831389138single base substitutionTCintron_variant
MELA-AU143138927031389270single base substitutionGAintron_variant
MELA-AU143139226531392265single base substitutionGAintron_variant
MELA-AU143139227831392278single base substitutionAGintron_variant
MELA-AU143139285731392857single base substitutionGAintron_variant
MELA-AU143139285831392858single base substitutionGAintron_variant
MELA-AU143139343131393431single base substitutionACintron_variant
MELA-AU143139343231393432single base substitutionCAintron_variant
MELA-AU143139372931393729single base substitutionCTintron_variant
MELA-AU143139413831394138single base substitutionAGintron_variant
MELA-AU143139421631394216single base substitutionGAintron_variant
MELA-AU143139421731394217single base substitutionGAintron_variant
MELA-AU143139430531394305single base substitutionGAintron_variant
MELA-AU143139447331394473single base substitutionGAintron_variant
MELA-AU143139535831395358single base substitutionGAintron_variant
MELA-AU143139657231396572single base substitutionAGintron_variant
MELA-AU143139672231396722single base substitutionAGintron_variant
MELA-AU143139700531397005single base substitutionGCintron_variant
MELA-AU143139704631397046single base substitutionGAintron_variant
MELA-AU143139772831397728single base substitutionGAintron_variant
MELA-AU143139804831398048single base substitutionTAintron_variant
MELA-AU143139816031398160deletion of <=200bpA-intron_variant
MELA-AU143139830331398303single base substitutionCTintron_variant
MELA-AU143139948631399486single base substitutionGAintron_variant
MELA-AU143140085431400854single base substitutionGAintron_variant
MELA-AU143140133931401339single base substitutionGAexon_variant
MELA-AU143140133931401339single base substitutionGAintron_variant
MELA-AU143140139731401397single base substitutionCTexon_variant
MELA-AU143140139731401397single base substitutionCTintron_variant
MELA-AU143140163931401639single base substitutionGAintron_variant
MELA-AU143140163931401639single base substitutionGAupstream_gene_variant
MELA-AU143140167931401679single base substitutionACintron_variant
MELA-AU143140167931401679single base substitutionACupstream_gene_variant
MELA-AU143140169831401698single base substitutionGAintron_variant
MELA-AU143140169831401698single base substitutionGAupstream_gene_variant
MELA-AU143140203731402037single base substitutionGAintron_variant
MELA-AU143140203731402037single base substitutionGAupstream_gene_variant
MELA-AU143140461531404615single base substitutionGAintron_variant
MELA-AU143140461531404615single base substitutionGAupstream_gene_variant
MELA-AU143140509331405093deletion of <=200bpA-intron_variant
MELA-AU143140509331405093deletion of <=200bpA-upstream_gene_variant
MELA-AU143140510931405109single base substitutionACintron_variant
MELA-AU143140510931405109single base substitutionACupstream_gene_variant
MELA-AU143140595231405952single base substitutionGAintron_variant
MELA-AU143140595231405952single base substitutionGAupstream_gene_variant
MELA-AU143140597431405974single base substitutionACintron_variant
MELA-AU143140597431405974single base substitutionACupstream_gene_variant
MELA-AU143140605031406056deletion of <=200bpAAAATAT-intron_variant
MELA-AU143140605031406056deletion of <=200bpAAAATAT-upstream_gene_variant
MELA-AU143140620831406208single base substitutionAGintron_variant
MELA-AU143140620831406208single base substitutionAGupstream_gene_variant
MELA-AU143140630031406300single base substitutionGAintron_variant
MELA-AU143140630031406300single base substitutionGAupstream_gene_variant
MELA-AU143140682331406823single base substitutionGAintron_variant
MELA-AU143140682331406823single base substitutionGAupstream_gene_variant
MELA-AU143140688831406888single base substitutionGAintron_variant
MELA-AU143140688831406888single base substitutionGAupstream_gene_variant
MELA-AU143140789731407897single base substitutionAGintron_variant
MELA-AU143140789731407897single base substitutionAGupstream_gene_variant
MELA-AU143140852231408522single base substitutionGAintron_variant
MELA-AU143140852231408522single base substitutionGAupstream_gene_variant
MELA-AU143140968231409682single base substitutionAGintron_variant
MELA-AU143140968231409682single base substitutionAGupstream_gene_variant
MELA-AU143141029531410295single base substitutionGAintron_variant
MELA-AU143141029531410295single base substitutionGAupstream_gene_variant
MELA-AU143141077331410774multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143141077331410774multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU143141179031411790single base substitutionCTdownstream_gene_variant
MELA-AU143141179031411790single base substitutionCTintron_variant
MELA-AU143141262731412627single base substitutionGAdownstream_gene_variant
MELA-AU143141262731412627single base substitutionGAintron_variant
MELA-AU143141330331413303single base substitutionGAdownstream_gene_variant
MELA-AU143141330331413303single base substitutionGAintron_variant
MELA-AU143141378031413780single base substitutionCTdownstream_gene_variant
MELA-AU143141378031413780single base substitutionCTintron_variant
MELA-AU143141394831413948single base substitutionCAdownstream_gene_variant
MELA-AU143141394831413948single base substitutionCAintron_variant
MELA-AU143141483831414838single base substitutionGAdownstream_gene_variant
MELA-AU143141483831414838single base substitutionGAintron_variant
MELA-AU143141567631415676single base substitutionGAdownstream_gene_variant
MELA-AU143141567631415676single base substitutionGAintron_variant
MELA-AU143141612731416127single base substitutionGAdownstream_gene_variant
MELA-AU143141612731416127single base substitutionGAintron_variant
MELA-AU143141634331416343single base substitutionGAexon_variant
MELA-AU143141634331416343single base substitutionGAsynonymous_variantI104I312C>T
MELA-AU143141634331416343single base substitutionGAsynonymous_variantI223I669C>T
MELA-AU143141674931416750deletion of <=200bpAC-intron_variant
MELA-AU143141679331416793single base substitutionAGintron_variant
MELA-AU143141762531417626multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143141786631417866single base substitutionGAintron_variant
MELA-AU143141881431418814single base substitutionCTintron_variant
MELA-AU143141898931418993deletion of <=200bpAAATA-intron_variant
MELA-AU143141899031418990single base substitutionATintron_variant
MELA-AU143141978831419788single base substitutionGAintron_variant
MELA-AU143141991131419911single base substitutionACintron_variant
MELA-AU143142022431420224single base substitutionGAintron_variant
MELA-AU143142041831420418single base substitutionGAintron_variant
MELA-AU143142084131420841single base substitutionGAintron_variant
MELA-AU143142229431422294single base substitutionTCintron_variant
MELA-AU143142288431422884single base substitutionGAintron_variant
MELA-AU143142349731423497single base substitutionGAintron_variant
MELA-AU143142372731423727single base substitutionCGintron_variant
MELA-AU143142547131425471single base substitutionTCintron_variant
MELA-AU143142557831425578single base substitutionGAintron_variant
MELA-AU143142562731425627single base substitutionGAintron_variant
MELA-AU143142565131425651single base substitutionGAintron_variant
MELA-AU143142567031425670single base substitutionGAintron_variant
MELA-AU143142652731426527single base substitutionTAintron_variant
MELA-AU143142658631426586single base substitutionGAintron_variant
MELA-AU143142771931427719single base substitutionGAintron_variant
MELA-AU143142787131427871single base substitutionGAintron_variant
MELA-AU143142871931428719single base substitutionAGintron_variant
MELA-AU143142910731429107single base substitutionGAintron_variant
MELA-AU143142933131429331single base substitutionGAintron_variant
MELA-AU143142999031429990single base substitutionGAintron_variant
MELA-AU143143033431430334single base substitutionGAintron_variant
MELA-AU143143109031431091multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143143145931431459deletion of <=200bpT-intron_variant
MELA-AU143143246431432464single base substitutionGAintron_variant
MELA-AU143143261731432617single base substitutionACintron_variant
MELA-AU143143305131433051single base substitutionATintron_variant
MELA-AU143143344331433443insertion of <=200bp-Aintron_variant
MELA-AU143143353431433534single base substitutionGAintron_variant
MELA-AU143143478631434786single base substitutionGAintron_variant
MELA-AU143143478631434786single base substitutionGAupstream_gene_variant
MELA-AU143143490431434904single base substitutionCTintron_variant
MELA-AU143143490431434904single base substitutionCTupstream_gene_variant
MELA-AU143143501431435014single base substitutionGAintron_variant
MELA-AU143143501431435014single base substitutionGAupstream_gene_variant
MELA-AU143143502131435021single base substitutionGAintron_variant
MELA-AU143143502131435021single base substitutionGAupstream_gene_variant
MELA-AU143143533231435332single base substitutionGAintron_variant
MELA-AU143143533231435332single base substitutionGAupstream_gene_variant
MELA-AU143143540031435400single base substitutionGAintron_variant
MELA-AU143143540031435400single base substitutionGAupstream_gene_variant
MELA-AU143143619831436198single base substitutionGAintron_variant
MELA-AU143143619831436198single base substitutionGAupstream_gene_variant
MELA-AU143143630531436305single base substitutionCTintron_variant
MELA-AU143143630531436305single base substitutionCTupstream_gene_variant
MELA-AU143143651631436516single base substitutionGAintron_variant
MELA-AU143143651631436516single base substitutionGAupstream_gene_variant
MELA-AU143143659931436599single base substitutionGAintron_variant
MELA-AU143143659931436599single base substitutionGAupstream_gene_variant
MELA-AU143143710231437103multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143143710231437103multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU143143711731437118multiple base substitution (>=2bp and <=200bp)CCATintron_variant
MELA-AU143143711731437118multiple base substitution (>=2bp and <=200bp)CCATupstream_gene_variant
MELA-AU143143724831437248single base substitutionCTintron_variant
MELA-AU143143724831437248single base substitutionCTupstream_gene_variant
MELA-AU143143770731437707single base substitutionGAintron_variant
MELA-AU143143770731437707single base substitutionGAupstream_gene_variant
MELA-AU143143798031437980single base substitutionGAintron_variant
MELA-AU143143798031437980single base substitutionGAupstream_gene_variant
MELA-AU143143802731438027single base substitutionCTintron_variant
MELA-AU143143802731438027single base substitutionCTupstream_gene_variant
MELA-AU143143864231438643multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU143143864231438643multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU143143909031439090single base substitutionACintron_variant
MELA-AU143143957331439573single base substitutionGAintron_variant
MELA-AU143143993031439930single base substitutionGAintron_variant
MELA-AU143144073831440738single base substitutionGAintron_variant
MELA-AU143144078031440780single base substitutionGAintron_variant
MELA-AU143144151431441514single base substitutionCTintron_variant
MELA-AU143144202631442043deletion of <=200bpGGAGTATAACTTGTAATG-intron_variant
MELA-AU143144202731442027single base substitutionGAintron_variant
MELA-AU143144238331442383single base substitutionCAintron_variant
MELA-AU143144278631442786single base substitutionCTintron_variant
MELA-AU143144349231443492single base substitutionGAintron_variant
MELA-AU143144476131444761single base substitutionAGintron_variant
MELA-AU143144527131445271single base substitutionTAintron_variant
MELA-AU143144552931445529single base substitutionGAintron_variant
MELA-AU143144661331446613single base substitutionGAintron_variant
MELA-AU143144729631447296single base substitutionGAintron_variant
MELA-AU143144775731447757single base substitutionGAintron_variant
MELA-AU143144802531448025single base substitutionGAintron_variant
MELA-AU143144848031448480single base substitutionGAintron_variant
MELA-AU143144970731449707single base substitutionGAintron_variant
MELA-AU143144998031449980single base substitutionGAintron_variant
MELA-AU143145104931451049single base substitutionCTintron_variant
MELA-AU143145136331451363single base substitutionGAintron_variant
MELA-AU143145172631451726single base substitutionGAintron_variant
MELA-AU143145178531451785single base substitutionGAintron_variant
MELA-AU143145193931451939single base substitutionGAintron_variant
MELA-AU143145375431453754single base substitutionGAintron_variant
MELA-AU143145425131454252multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143145467031454670single base substitutionCTintron_variant
MELA-AU143145524931455249single base substitutionGAintron_variant
MELA-AU143145557831455578single base substitutionCTintron_variant
MELA-AU143145618231456182single base substitutionGAintron_variant
MELA-AU143145636831456368single base substitutionGAintron_variant
MELA-AU143145780931457809single base substitutionATintron_variant
MELA-AU143145830831458309multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143145861831458618single base substitutionGAintron_variant
MELA-AU143145895531458955single base substitutionCGintron_variant
MELA-AU143145964431459644single base substitutionGAintron_variant
MELA-AU143146105331461053single base substitutionCTintron_variant
MELA-AU143146112431461124single base substitutionTCintron_variant
MELA-AU143146202531462025single base substitutionGAintron_variant
MELA-AU143146218831462188single base substitutionGCintron_variant
MELA-AU143146392231463922single base substitutionAGintron_variant
MELA-AU143146618431466184single base substitutionGAintron_variant
MELA-AU143146631131466311single base substitutionGAintron_variant
MELA-AU143146638331466383single base substitutionGAintron_variant
MELA-AU143146676031466760single base substitutionCAintron_variant
MELA-AU143146713931467139single base substitutionGAintron_variant
MELA-AU143146770931467709single base substitutionAGintron_variant
MELA-AU143146816631468166single base substitutionCAintron_variant
MELA-AU143146849131468491single base substitutionGAintron_variant
MELA-AU143146914231469142single base substitutionGAintron_variant
MELA-AU143146936731469367single base substitutionGTintron_variant
MELA-AU143146998431469984single base substitutionGAintron_variant
MELA-AU143147108531471085single base substitutionACintron_variant
MELA-AU143147126731471267single base substitutionGAintron_variant
MELA-AU143147456831474568single base substitutionGAintron_variant
MELA-AU143147516531475165single base substitutionATintron_variant
MELA-AU143147522531475225single base substitutionGAintron_variant
MELA-AU143147656031476561multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU143147665931476659single base substitutionCTintron_variant
MELA-AU143147717431477174single base substitutionGAintron_variant
MELA-AU143147788431477884single base substitutionGAintron_variant
MELA-AU143148037531480375single base substitutionTGintron_variant
MELA-AU143148102531481025single base substitutionGAintron_variant
MELA-AU143148165931481659single base substitutionGAintron_variant
MELA-AU143148180331481803single base substitutionGAintron_variant
MELA-AU143148228531482285single base substitutionGAintron_variant
MELA-AU143148236731482367single base substitutionGAintron_variant
MELA-AU143148309131483091single base substitutionTGintron_variant
MELA-AU143148319831483198single base substitutionCTintron_variant
MELA-AU143148334731483347single base substitutionGAintron_variant
MELA-AU143148361931483619single base substitutionGAintron_variant
MELA-AU143148369631483696single base substitutionGAintron_variant
MELA-AU143148438831484388single base substitutionCTintron_variant
MELA-AU143148460331484603single base substitutionGAintron_variant
MELA-AU143148486131484861single base substitutionGAintron_variant
MELA-AU143148572131485721single base substitutionGAintron_variant
MELA-AU143148681531486815single base substitutionGAintron_variant
MELA-AU143148747631487476single base substitutionGAintron_variant
MELA-AU143148819631488196single base substitutionGAintron_variant
MELA-AU143149053131490531single base substitutionCTintron_variant
MELA-AU143149070631490706single base substitutionGAintron_variant
MELA-AU143149118731491187single base substitutionATintron_variant
MELA-AU143149149631491496single base substitutionGAintron_variant
MELA-AU143149183831491838single base substitutionGAintron_variant
MELA-AU143149203731492037single base substitutionTAintron_variant
MELA-AU143149243731492437single base substitutionGAintron_variant
MELA-AU143149265231492652single base substitutionCTintron_variant
MELA-AU143149466131494661single base substitutionGAintron_variant
MELA-AU143149500131495001single base substitutionCTintron_variant
MELA-AU143149592731495927single base substitutionCTupstream_gene_variant
MELA-AU143149675931496759single base substitutionTAupstream_gene_variant
MELA-AU143149780231497802single base substitutionTCupstream_gene_variant
MELA-AU143149808531498085single base substitutionCTupstream_gene_variant
MELA-AU143149837531498375single base substitutionCTupstream_gene_variant
MELA-AU143149866231498662single base substitutionCTupstream_gene_variant
MELA-AU143149920031499200single base substitutionTGupstream_gene_variant
MELA-AU143149944331499443single base substitutionGAupstream_gene_variant
MELA-AU143150027031500270single base substitutionTCupstream_gene_variant
ORCA-IN143136578231365782single base substitutionGAintron_variant
ORCA-IN143137893631378936single base substitutionGAdownstream_gene_variant
ORCA-IN143137893631378936single base substitutionGAintron_variant
ORCA-IN143138382331383823single base substitutionGTintron_variant
ORCA-IN143138382331383823single base substitutionGTupstream_gene_variant
ORCA-IN143138958931389589single base substitutionCTintron_variant
ORCA-IN143139691331396913single base substitutionCTintron_variant
ORCA-IN143141336631413366single base substitutionGAdownstream_gene_variant
ORCA-IN143141336631413366single base substitutionGAintron_variant
ORCA-IN143142649131426491single base substitutionCGintron_variant
ORCA-IN143144402631444026single base substitutionCTintron_variant
ORCA-IN143144789131447891single base substitutionGAintron_variant
OV-AU143138059431380594single base substitutionACdownstream_gene_variant
OV-AU143138059431380594single base substitutionACintron_variant
OV-AU143138579031385790single base substitutionTGintron_variant
OV-AU143138579031385790single base substitutionTGupstream_gene_variant
OV-AU143139251831392518single base substitutionCTintron_variant
OV-AU143139487131394871single base substitutionCGintron_variant
OV-AU143139723931397239single base substitutionGAintron_variant
OV-AU143140001831400018single base substitutionGTintron_variant
OV-AU143141152231411522single base substitutionCAdownstream_gene_variant
OV-AU143141152231411522single base substitutionCAintron_variant
OV-AU143142131931421319single base substitutionGAintron_variant
OV-AU143142564331425643single base substitutionGCintron_variant
OV-AU143142960631429606single base substitutionGCintron_variant
OV-AU143143065431430654single base substitutionAGintron_variant
OV-AU143143076331430763single base substitutionGCintron_variant
OV-AU143143378831433788single base substitutionCAintron_variant
OV-AU143143378831433788single base substitutionCAupstream_gene_variant
OV-AU143143519531435195single base substitutionCAintron_variant
OV-AU143143519531435195single base substitutionCAupstream_gene_variant
OV-AU143143749631437496single base substitutionACintron_variant
OV-AU143143749631437496single base substitutionACupstream_gene_variant
OV-AU143143750031437500single base substitutionAGintron_variant
OV-AU143143750031437500single base substitutionAGupstream_gene_variant
OV-AU143144251531442515single base substitutionCGintron_variant
OV-AU143144285331442853single base substitutionCAintron_variant
OV-AU143144776831447768single base substitutionAGintron_variant
OV-AU143144900831449008single base substitutionGTintron_variant
OV-AU143144997731449977single base substitutionCGintron_variant
OV-AU143145380231453802single base substitutionGTintron_variant
OV-AU143145696631456966single base substitutionCTintron_variant
OV-AU143146720131467201single base substitutionACintron_variant
OV-AU143148124531481245single base substitutionGAintron_variant
OV-AU143148721331487213single base substitutionGAintron_variant
PACA-AU143135867431358674single base substitutionCGdownstream_gene_variant
PACA-AU143136630931366309single base substitutionGAintron_variant
PACA-AU143136757731367577deletion of <=200bpT-intron_variant
PACA-AU143136767531367675single base substitutionCAintron_variant
PACA-AU143137784231377842single base substitutionACdownstream_gene_variant
PACA-AU143137784231377842single base substitutionACintron_variant
PACA-AU143137888031378880single base substitutionCTdownstream_gene_variant
PACA-AU143137888031378880single base substitutionCTintron_variant
PACA-AU143138106131381061single base substitutionACdownstream_gene_variant
PACA-AU143138106131381061single base substitutionACintron_variant
PACA-AU143138501231385012single base substitutionGAintron_variant
PACA-AU143138501231385012single base substitutionGAupstream_gene_variant
PACA-AU143138903031389030deletion of <=200bpA-intron_variant
PACA-AU143138989631389896single base substitutionAGintron_variant
PACA-AU143139580931395809single base substitutionTCintron_variant
PACA-AU143139836931398369single base substitutionGTintron_variant
PACA-AU143140030331400303single base substitutionATintron_variant
PACA-AU143140703231407032single base substitutionGTintron_variant
PACA-AU143140703231407032single base substitutionGTupstream_gene_variant
PACA-AU143141674931416750deletion of <=200bpAC-intron_variant
PACA-AU143141911531419115single base substitutionTCintron_variant
PACA-AU143143253231432532single base substitutionCGintron_variant
PACA-AU143144254031442540deletion of <=200bpG-intron_variant
PACA-AU143144700631447006single base substitutionAGintron_variant
PACA-AU143145100031451007deletion of <=200bpTATTGATA-intron_variant
PACA-AU143145904631459046single base substitutionGTintron_variant
PACA-AU143146069931460699single base substitutionGAintron_variant
PACA-AU143146275831462758single base substitutionTAintron_variant
PACA-AU143148310631483106single base substitutionTGintron_variant
PACA-AU143148310831483108single base substitutionAGintron_variant
PACA-AU143148792131487921single base substitutionATintron_variant
PACA-AU143149089731490897single base substitutionCTintron_variant
PACA-AU143149111031491110single base substitutionCGintron_variant
PACA-AU143149152631491526single base substitutionCTintron_variant
PACA-AU143149197631491976single base substitutionGAintron_variant
PACA-AU143149978831499788single base substitutionCGupstream_gene_variant
PACA-CA143136254431362544single base substitutionGCdownstream_gene_variant
PACA-CA143136436831364368single base substitutionGA3_prime_UTR_variant
PACA-CA143136436831364368single base substitutionGAdownstream_gene_variant
PACA-CA143137208131372081single base substitutionGTdownstream_gene_variant
PACA-CA143137208131372081single base substitutionGTintron_variant
PACA-CA143137401631374016single base substitutionAGdownstream_gene_variant
PACA-CA143137401631374016single base substitutionAGintron_variant
PACA-CA143137966431379664single base substitutionCTdownstream_gene_variant
PACA-CA143137966431379664single base substitutionCTintron_variant
PACA-CA143137976931379769single base substitutionATdownstream_gene_variant
PACA-CA143137976931379769single base substitutionATintron_variant
PACA-CA143138373331383733single base substitutionGTintron_variant
PACA-CA143138373331383733single base substitutionGTupstream_gene_variant
PACA-CA143138796931387969single base substitutionATintron_variant
PACA-CA143138845931388459single base substitutionCTintron_variant
PACA-CA143138849131388491single base substitutionACintron_variant
PACA-CA143139063631390638deletion of <=200bpATA-intron_variant
PACA-CA143139127231391272single base substitutionTAintron_variant
PACA-CA143139484631394846single base substitutionGAintron_variant
PACA-CA143139949931399499insertion of <=200bp-Tintron_variant
PACA-CA143140148131401481single base substitutionGAexon_variant
PACA-CA143140148131401481single base substitutionGAintron_variant
PACA-CA143140218631402186insertion of <=200bp-Aintron_variant
PACA-CA143140218631402186insertion of <=200bp-Aupstream_gene_variant
PACA-CA143140355031403550single base substitutionTCintron_variant
PACA-CA143140355031403550single base substitutionTCupstream_gene_variant
PACA-CA143140929131409291single base substitutionTAintron_variant
PACA-CA143140929131409291single base substitutionTAupstream_gene_variant
PACA-CA143141191631411916single base substitutionACdownstream_gene_variant
PACA-CA143141191631411916single base substitutionACintron_variant
PACA-CA143141194331411943single base substitutionACdownstream_gene_variant
PACA-CA143141194331411943single base substitutionACintron_variant
PACA-CA143141559231415592insertion of <=200bp-Adownstream_gene_variant
PACA-CA143141559231415592insertion of <=200bp-Aintron_variant
PACA-CA143142097631420976single base substitutionTCintron_variant
PACA-CA143142508431425084single base substitutionAGintron_variant
PACA-CA143142573831425738single base substitutionTCintron_variant
PACA-CA143142583231425832single base substitutionCAintron_variant
PACA-CA143143572031435720single base substitutionAGintron_variant
PACA-CA143143572031435720single base substitutionAGupstream_gene_variant
PACA-CA143143811231438112single base substitutionGAintron_variant
PACA-CA143143811231438112single base substitutionGAupstream_gene_variant
PACA-CA143143956731439567single base substitutionCTintron_variant
PACA-CA143144162531441625single base substitutionCTintron_variant
PACA-CA143144320231443202single base substitutionGTintron_variant
PACA-CA143145031231450312single base substitutionGCintron_variant
PACA-CA143145376731453767single base substitutionCTintron_variant
PACA-CA143145727831457278single base substitutionTCintron_variant
PACA-CA143146097131460971single base substitutionGAintron_variant
PACA-CA143146149031461490single base substitutionGAintron_variant
PACA-CA143146615331466153single base substitutionTCintron_variant
PACA-CA143146668531466685single base substitutionCGintron_variant
PACA-CA143146687531466875single base substitutionCTintron_variant
PACA-CA143146727031467270single base substitutionCGintron_variant
PACA-CA143147305331473053single base substitutionGTintron_variant
PACA-CA143147942931479430deletion of <=200bpTA-intron_variant
PACA-CA143149026931490269single base substitutionGAintron_variant
PACA-CA143149067631490676single base substitutionGAintron_variant
PACA-CA143149274431492744single base substitutionCTintron_variant
PACA-CA143149618031496180single base substitutionTAupstream_gene_variant
PACA-CA143149646531496465single base substitutionGAupstream_gene_variant
PACA-CA143149782431497824single base substitutionCGupstream_gene_variant
PACA-CA143149919831499198single base substitutionCTupstream_gene_variant
PACA-CA143149970531499707deletion of <=200bpCTC-upstream_gene_variant
PACA-CA143149971131499713deletion of <=200bpGCT-upstream_gene_variant
PACA-CA143149971531499720deletion of <=200bpTTTTTT-upstream_gene_variant
PACA-CA143149972231499727deletion of <=200bpTTTTTA-upstream_gene_variant
PACA-CA143150025831500258single base substitutionCTupstream_gene_variant
PAEN-AU143142290131422901single base substitutionACintron_variant
PAEN-AU143145327031453270single base substitutionCAintron_variant
PAEN-AU143147768931477689single base substitutionGAintron_variant
PAEN-AU143149505231495052single base substitutionACintron_variant
PAEN-IT143140025931400259single base substitutionAGintron_variant
PAEN-IT143142833931428339single base substitutionCTintron_variant
PAEN-IT143145148031451480single base substitutionTAintron_variant
PAEN-IT143145440431454404single base substitutionCGintron_variant
PAEN-IT143148895031488950single base substitutionCAintron_variant
PBCA-DE143136473731364737single base substitutionCG3_prime_UTR_variant
PBCA-DE143136473731364737single base substitutionCGsynonymous_variantV674V2022G>C
PBCA-DE143136473731364737single base substitutionCGsynonymous_variantV758V2274G>C
PBCA-DE143136688231366882single base substitutionGCintron_variant
PBCA-DE143136714231367142insertion of <=200bp-GTintron_variant
PBCA-DE143136757431367574single base substitutionGTintron_variant
PBCA-DE143137840431378404deletion of <=200bpT-downstream_gene_variant
PBCA-DE143137840431378404deletion of <=200bpT-intron_variant
PBCA-DE143138028031380280single base substitutionGT3_prime_UTR_variant
PBCA-DE143138028031380280single base substitutionGTdownstream_gene_variant
PBCA-DE143138028031380280single base substitutionGTexon_variant
PBCA-DE143138028031380280single base substitutionGTmissense_variantP479T1435C>A
PBCA-DE143138028031380280single base substitutionGTmissense_variantP563T1687C>A
PBCA-DE143138147031381470single base substitutionGTdownstream_gene_variant
PBCA-DE143138147031381470single base substitutionGTexon_variant
PBCA-DE143138147031381470single base substitutionGTintron_variant
PBCA-DE143138580631385806insertion of <=200bp-Tintron_variant
PBCA-DE143138580631385806insertion of <=200bp-Tupstream_gene_variant
PBCA-DE143138856931388570deletion of <=200bpAT-intron_variant
PBCA-DE143139179431391794single base substitutionCTintron_variant
PBCA-DE143141000931410009single base substitutionTCintron_variant
PBCA-DE143141000931410009single base substitutionTCupstream_gene_variant
PBCA-DE143142190631421906insertion of <=200bp-Aintron_variant
PBCA-DE143143072231430722single base substitutionCGintron_variant
PBCA-DE143143151731431517insertion of <=200bp-Aintron_variant
PBCA-DE143143721431437214single base substitutionCTintron_variant
PBCA-DE143143721431437214single base substitutionCTupstream_gene_variant
PBCA-DE143144166231441662single base substitutionTAintron_variant
PBCA-DE143144166331441663single base substitutionCTintron_variant
PBCA-DE143144520031445200single base substitutionGAintron_variant
PBCA-DE143144683631446836insertion of <=200bp-Aintron_variant
PBCA-DE143145016731450167single base substitutionGAintron_variant
PBCA-DE143145102831451028single base substitutionCTintron_variant
PBCA-DE143146308731463087insertion of <=200bp-Tintron_variant
PBCA-DE143146325131463251insertion of <=200bp-Tintron_variant
PBCA-DE143146868931468692deletion of <=200bpAAGA-intron_variant
PBCA-DE143147260431472604single base substitutionTCintron_variant
PBCA-DE143147588331475883deletion of <=200bpA-intron_variant
PBCA-DE143147636131476361single base substitutionGAintron_variant
PBCA-DE143149780331497804deletion of <=200bpAC-upstream_gene_variant
PRAD-CA143136139631361396single base substitutionTGdownstream_gene_variant
PRAD-CA143136765431367654single base substitutionTCintron_variant
PRAD-CA143144491731444917single base substitutionTCintron_variant
PRAD-CA143145526831455268single base substitutionTCintron_variant
PRAD-CA143148147331481473single base substitutionCTintron_variant
PRAD-CA143148576531485765single base substitutionTAintron_variant
PRAD-CA143149097931490979single base substitutionTCintron_variant
PRAD-UK143136747431367474single base substitutionCAintron_variant
PRAD-UK143137650131376501single base substitutionATdownstream_gene_variant
PRAD-UK143137650131376501single base substitutionATintron_variant
PRAD-UK143138900931389009single base substitutionGAintron_variant
PRAD-UK143139726131397261single base substitutionGAintron_variant
PRAD-UK143141074431410744single base substitutionAGintron_variant
PRAD-UK143141074431410744single base substitutionAGupstream_gene_variant
PRAD-UK143141692731416927single base substitutionAGintron_variant
PRAD-UK143142465031424650single base substitutionTGintron_variant
PRAD-UK143142600631426006single base substitutionGAintron_variant
PRAD-UK143143363831433638single base substitutionTC5_prime_UTR_variant
PRAD-UK143143363831433638single base substitutionTCintron_variant
PRAD-UK143145199831451998single base substitutionGCintron_variant
PRAD-UK143145690431456904single base substitutionATintron_variant
PRAD-UK143146062031460625deletion of <=200bpTAAAGA-intron_variant
PRAD-UK143146358431463584single base substitutionAGintron_variant
PRAD-UK143146471831464718single base substitutionCGintron_variant
PRAD-UK143146746731467469deletion of <=200bpTTG-intron_variant
PRAD-UK143147283131472831single base substitutionTCintron_variant
PRAD-UK143147914331479143insertion of <=200bp-Aintron_variant
READ-US143138136431381364single base substitutionGA3_prime_UTR_variant
READ-US143138136431381364single base substitutionGAdownstream_gene_variant
READ-US143138136431381364single base substitutionGAexon_variant
READ-US143138136431381364single base substitutionGAstop_gainedR383*1147C>T
READ-US143138136431381364single base substitutionGAstop_gainedR467*1399C>T
READ-US143149534631495346single base substitutionCTexon_variant
READ-US143149534631495346single base substitutionCTmissense_variantA16T46G>A
RECA-EU143135841831358418single base substitutionAGdownstream_gene_variant
RECA-EU143136258331362583single base substitutionCAdownstream_gene_variant
RECA-EU143136733631367336single base substitutionCAintron_variant
RECA-EU143137061531370615single base substitutionAGdownstream_gene_variant
RECA-EU143137061531370615single base substitutionAGintron_variant
RECA-EU143137583131375831single base substitutionTAintron_variant
RECA-EU143137879531378795single base substitutionCAdownstream_gene_variant
RECA-EU143137879531378795single base substitutionCAintron_variant
RECA-EU143138701431387014single base substitutionACintron_variant
RECA-EU143141244431412444single base substitutionGAdownstream_gene_variant
RECA-EU143141244431412444single base substitutionGAintron_variant
RECA-EU143141482131414821single base substitutionAGdownstream_gene_variant
RECA-EU143141482131414821single base substitutionAGintron_variant
RECA-EU143142462331424623single base substitutionACintron_variant
RECA-EU143144192631441926single base substitutionACintron_variant
RECA-EU143144213131442131single base substitutionAGintron_variant
RECA-EU143146703731467037single base substitutionAGintron_variant
RECA-EU143147468131474681single base substitutionTCintron_variant
RECA-EU143147655031476550single base substitutionGTintron_variant
RECA-EU143148879931488799single base substitutionGCintron_variant
RECA-EU143149039331490393single base substitutionGAintron_variant
RECA-EU143149237731492377single base substitutionACintron_variant
RECA-EU143149617831496178single base substitutionGAupstream_gene_variant
SKCA-BR143136023731360237insertion of <=200bp-CCTATdownstream_gene_variant
SKCA-BR143136047731360477single base substitutionGAdownstream_gene_variant
SKCA-BR143136048131360481insertion of <=200bp-CTdownstream_gene_variant
SKCA-BR143136144231361442single base substitutionGAdownstream_gene_variant
SKCA-BR143136233331362357deletion of <=200bpATTACAAACGGCAAAAACCACAATT-downstream_gene_variant
SKCA-BR143136900131369001single base substitutionAGintron_variant
SKCA-BR143137002831370028single base substitutionGAdownstream_gene_variant
SKCA-BR143137002831370028single base substitutionGAintron_variant
SKCA-BR143137128531371285single base substitutionGAdownstream_gene_variant
SKCA-BR143137128531371285single base substitutionGAintron_variant
SKCA-BR143137141531371415single base substitutionTAdownstream_gene_variant
SKCA-BR143137141531371415single base substitutionTAintron_variant
SKCA-BR143137348131373481single base substitutionGAdownstream_gene_variant
SKCA-BR143137348131373481single base substitutionGAintron_variant
SKCA-BR143137762331377623single base substitutionACdownstream_gene_variant
SKCA-BR143137762331377623single base substitutionACintron_variant
SKCA-BR143138114831381148single base substitutionGAdownstream_gene_variant
SKCA-BR143138114831381148single base substitutionGAintron_variant
SKCA-BR143138125531381255single base substitutionGC3_prime_UTR_variant
SKCA-BR143138125531381255single base substitutionGCdownstream_gene_variant
SKCA-BR143138125531381255single base substitutionGCexon_variant
SKCA-BR143138125531381255single base substitutionGCmissense_variantT419S1256C>G
SKCA-BR143138125531381255single base substitutionGCmissense_variantT503S1508C>G
SKCA-BR143138521631385216single base substitutionTCintron_variant
SKCA-BR143138521631385216single base substitutionTCupstream_gene_variant
SKCA-BR143138548231385482single base substitutionTGintron_variant
SKCA-BR143138548231385482single base substitutionTGupstream_gene_variant
SKCA-BR143138694431386944single base substitutionGAintron_variant
SKCA-BR143138735331387353single base substitutionGAintron_variant
SKCA-BR143138772931387729single base substitutionAGintron_variant
SKCA-BR143138887931388880deletion of <=200bpCA-intron_variant
SKCA-BR143139220031392200single base substitutionCAintron_variant
SKCA-BR143139514931395149single base substitutionATintron_variant
SKCA-BR143139698631396986single base substitutionTCintron_variant
SKCA-BR143139916531399165insertion of <=200bp-AAAAAAACintron_variant
SKCA-BR143140173231401732single base substitutionACintron_variant
SKCA-BR143140173231401732single base substitutionACupstream_gene_variant
SKCA-BR143140248531402485insertion of <=200bp-ATintron_variant
SKCA-BR143140248531402485insertion of <=200bp-ATupstream_gene_variant
SKCA-BR143140248631402486insertion of <=200bp-TTAAAintron_variant
SKCA-BR143140248631402486insertion of <=200bp-TTAAAupstream_gene_variant
SKCA-BR143140248631402486insertion of <=200bp-TTAAintron_variant
SKCA-BR143140248631402486insertion of <=200bp-TTAAupstream_gene_variant
SKCA-BR143140248631402486insertion of <=200bp-TTAintron_variant
SKCA-BR143140248631402486insertion of <=200bp-TTAupstream_gene_variant
SKCA-BR143140248731402487single base substitutionATintron_variant
SKCA-BR143140248731402487single base substitutionATupstream_gene_variant
SKCA-BR143140519531405195single base substitutionGAintron_variant
SKCA-BR143140519531405195single base substitutionGAupstream_gene_variant
SKCA-BR143140840831408408single base substitutionATintron_variant
SKCA-BR143140840831408408single base substitutionATupstream_gene_variant
SKCA-BR143140861831408618single base substitutionTAintron_variant
SKCA-BR143140861831408618single base substitutionTAupstream_gene_variant
SKCA-BR143140923531409235insertion of <=200bp-GTintron_variant
SKCA-BR143140923531409235insertion of <=200bp-GTupstream_gene_variant
SKCA-BR143140970631409706single base substitutionAGintron_variant
SKCA-BR143140970631409706single base substitutionAGupstream_gene_variant
SKCA-BR143141377831413778single base substitutionCTdownstream_gene_variant
SKCA-BR143141377831413778single base substitutionCTintron_variant
SKCA-BR143142311331423113single base substitutionGAintron_variant
SKCA-BR143142533531425335single base substitutionGAintron_variant
SKCA-BR143142550631425506single base substitutionGAintron_variant
SKCA-BR143143256331432563single base substitutionGAintron_variant
SKCA-BR143143256431432564single base substitutionGAintron_variant
SKCA-BR143143364731433647single base substitutionGA5_prime_UTR_variant
SKCA-BR143143364731433647single base substitutionGAintron_variant
SKCA-BR143143427131434271single base substitutionGAintron_variant
SKCA-BR143143427131434271single base substitutionGAupstream_gene_variant
SKCA-BR143143496731434967single base substitutionTCintron_variant
SKCA-BR143143496731434967single base substitutionTCupstream_gene_variant
SKCA-BR143144474831444748insertion of <=200bp-GAintron_variant
SKCA-BR143144700131447001single base substitutionAGintron_variant
SKCA-BR143145078231450782insertion of <=200bp-TCACACACACAintron_variant
SKCA-BR143145192531451925single base substitutionCTintron_variant
SKCA-BR143145451031454511deletion of <=200bpGC-intron_variant
SKCA-BR143145451331454513single base substitutionAGintron_variant
SKCA-BR143145921231459212insertion of <=200bp-TGGAATGGGACAGAACAAGAintron_variant
SKCA-BR143145979531459795single base substitutionCTintron_variant
SKCA-BR143146123331461233single base substitutionCTintron_variant
SKCA-BR143146246031462460insertion of <=200bp-CAintron_variant
SKCA-BR143146325731463257single base substitutionATintron_variant
SKCA-BR143146478431464784single base substitutionGAintron_variant
SKCA-BR143146654931466549single base substitutionGAintron_variant
SKCA-BR143146788231467882single base substitutionACintron_variant
SKCA-BR143146919731469197single base substitutionTCintron_variant
SKCA-BR143146946231469462single base substitutionCGintron_variant
SKCA-BR143147166631471666single base substitutionGCintron_variant
SKCA-BR143147300231473002insertion of <=200bp-TAintron_variant
SKCA-BR143147300231473002insertion of <=200bp-TTAAAAintron_variant
SKCA-BR143147300331473003single base substitutionATintron_variant
SKCA-BR143147356831473568single base substitutionGAintron_variant
SKCA-BR143147606331476063single base substitutionTCintron_variant
SKCA-BR143147704231477042single base substitutionAGintron_variant
SKCA-BR143147872731478727single base substitutionGAintron_variant
SKCA-BR143148062531480625single base substitutionAGintron_variant
SKCA-BR143148221231482212single base substitutionCTintron_variant
SKCA-BR143148306931483072deletion of <=200bpTTTA-intron_variant
SKCA-BR143148306931483081deletion of <=200bpTTTATTATTATTA-intron_variant
SKCA-BR143148307531483075single base substitutionATintron_variant
SKCA-BR143148309531483095insertion of <=200bp-TATTATTATTTGAGACAGAGTGTCintron_variant
SKCA-BR143148623331486233single base substitutionTGintron_variant
SKCA-BR143148867131488671single base substitutionGAintron_variant
SKCA-BR143148909231489092insertion of <=200bp-CTintron_variant
SKCA-BR143149071731490717single base substitutionTCintron_variant
SKCA-BR143149122731491227single base substitutionGAintron_variant
SKCA-BR143149145331491453single base substitutionGAintron_variant
SKCA-BR143149162031491620single base substitutionATintron_variant
SKCA-BR143149392231493922single base substitutionATintron_variant
SKCA-BR143149406931494069single base substitutionATintron_variant
SKCA-BR143149493031494930single base substitutionGAintron_variant
SKCA-BR143149493131494931single base substitutionGAintron_variant
SKCA-BR143149550631495506single base substitutionGA5_prime_UTR_variant
SKCA-BR143149550731495507single base substitutionAG5_prime_UTR_variant
SKCA-BR143149550831495508single base substitutionAG5_prime_UTR_variant
SKCA-BR143149561431495614single base substitutionAGupstream_gene_variant
SKCA-BR143149563731495637single base substitutionTGupstream_gene_variant
SKCA-BR143149564431495644single base substitutionAGupstream_gene_variant
SKCM-US143137474331374743single base substitutionAC3_prime_UTR_variant
SKCM-US143137474331374743single base substitutionACexon_variant
SKCM-US143137474331374743single base substitutionACmissense_variantV553G1658T>G
SKCM-US143137474331374743single base substitutionACmissense_variantV637G1910T>G
SKCM-US143138134931381349single base substitutionGA3_prime_UTR_variant
SKCM-US143138134931381349single base substitutionGAdownstream_gene_variant
SKCM-US143138134931381349single base substitutionGAexon_variant
SKCM-US143138134931381349single base substitutionGAmissense_variantP388S1162C>T
SKCM-US143138134931381349single base substitutionGAmissense_variantP472S1414C>T
SKCM-US143138281931382819single base substitutionTCintron_variant
SKCM-US143138281931382819single base substitutionTCmissense_variantM110V328A>G
SKCM-US143138281931382819single base substitutionTCmissense_variantM142V424A>G
SKCM-US143138281931382819single base substitutionTCmissense_variantM345V1033A>G
SKCM-US143138281931382819single base substitutionTCmissense_variantM429V1285A>G
SKCM-US143138281931382819single base substitutionTCupstream_gene_variant
SKCM-US143138286131382861single base substitutionCTintron_variant
SKCM-US143138286131382861single base substitutionCTmissense_variantE128K382G>A
SKCM-US143138286131382861single base substitutionCTmissense_variantE331K991G>A
SKCM-US143138286131382861single base substitutionCTmissense_variantE415K1243G>A
SKCM-US143138286131382861single base substitutionCTmissense_variantE96K286G>A
SKCM-US143138286131382861single base substitutionCTupstream_gene_variant
SKCM-US143140438931404389single base substitutionGAexon_variant
SKCM-US143140438931404389single base substitutionGAmissense_variantS323L968C>T
SKCM-US143140438931404389single base substitutionGAmissense_variantS41L122C>T
SKCM-US143140438931404389single base substitutionGAmissense_variantS83L248C>T
SKCM-US143140438931404389single base substitutionGAupstream_gene_variant
SKCM-US143142008231420082single base substitutionGCexon_variant
SKCM-US143142008231420082single base substitutionGCmissense_variantQ177E529C>G
SKCM-US143142008231420082single base substitutionGCmissense_variantQ58E172C>G
SKCM-US143142486031424860single base substitutionGAexon_variant
SKCM-US143142486031424860single base substitutionGAsynonymous_variantN142N426C>T
SKCM-US143142486031424860single base substitutionGAsynonymous_variantN23N69C>T
STAD-US143136474531364745single base substitutionTC3_prime_UTR_variant
STAD-US143136474531364745single base substitutionTCmissense_variantT672A2014A>G
STAD-US143136474531364745single base substitutionTCmissense_variantT756A2266A>G
STAD-US143136494931364949deletion of <=200bpT-3_prime_UTR_variant
STAD-US143136494931364949deletion of <=200bpT-frameshift_variantM631
STAD-US143136494931364949deletion of <=200bpT-frameshift_variantM715
STAD-US143137617531376175deletion of <=200bpT-3_prime_UTR_variant
STAD-US143137617531376175deletion of <=200bpT-exon_variant
STAD-US143137617531376175deletion of <=200bpT-frameshift_variantN515
STAD-US143137617531376175deletion of <=200bpT-frameshift_variantN599
STAD-US143138036731380367single base substitutionCTdownstream_gene_variant
STAD-US143138036731380367single base substitutionCTmissense_variantG450S1348G>A
STAD-US143138036731380367single base substitutionCTmissense_variantG534S1600G>A
STAD-US143138036731380367single base substitutionCTsplice_region_variant
STAD-US143138121331381213deletion of <=200bpT-downstream_gene_variant
STAD-US143138121331381213deletion of <=200bpT-frameshift_variantK433
STAD-US143138121331381213deletion of <=200bpT-frameshift_variantK517
STAD-US143138121331381213deletion of <=200bpT-splice_region_variant
STAD-US143139842231398422insertion of <=200bp-Cframeshift_variantK122R?
STAD-US143139842231398422insertion of <=200bp-Cframeshift_variantK362R?
STAD-US143139842231398422insertion of <=200bp-Cintron_variant
STAD-US143139842331398423insertion of <=200bp-Cframeshift_variantG121G?
STAD-US143139842331398423insertion of <=200bp-Cframeshift_variantG361G?
STAD-US143139842331398423insertion of <=200bp-Cintron_variant
STAD-US143141634131416341single base substitutionATexon_variant
STAD-US143141634131416341single base substitutionATmissense_variantL105Q314T>A
STAD-US143141634131416341single base substitutionATmissense_variantL224Q671T>A
STAD-US143141642431416424single base substitutionCTexon_variant
STAD-US143141642431416424single base substitutionCTsynonymous_variantR196R588G>A
STAD-US143141642431416424single base substitutionCTsynonymous_variantR77R231G>A
STAD-US143142486931424869single base substitutionCTexon_variant
STAD-US143142486931424869single base substitutionCTsynonymous_variantT139T417G>A
STAD-US143142486931424869single base substitutionCTsynonymous_variantT20T60G>A
THCA-SA143138135131381351single base substitutionTC3_prime_UTR_variant
THCA-SA143138135131381351single base substitutionTCdownstream_gene_variant
THCA-SA143138135131381351single base substitutionTCexon_variant
THCA-SA143138135131381351single base substitutionTCmissense_variantN387S1160A>G
THCA-SA143138135131381351single base substitutionTCmissense_variantN471S1412A>G
THCA-SA143142544431425444single base substitutionCT5_prime_UTR_variant
THCA-SA143142544431425444single base substitutionCTexon_variant
THCA-SA143142544431425444single base substitutionCTmissense_variantR96Q287G>A
UCEC-US143135870431358704single base substitutionGTdownstream_gene_variant
UCEC-US143135896031358960single base substitutionGAdownstream_gene_variant
UCEC-US143135897931358979single base substitutionCAdownstream_gene_variant
UCEC-US143136489831364898single base substitutionCA3_prime_UTR_variant
UCEC-US143136489831364898single base substitutionCAmissense_variantD648Y1942G>T
UCEC-US143136489831364898single base substitutionCAmissense_variantD732Y2194G>T
UCEC-US143136492531364925single base substitutionAC3_prime_UTR_variant
UCEC-US143136492531364925single base substitutionACmissense_variantL639V1915T>G
UCEC-US143136492531364925single base substitutionACmissense_variantL723V2167T>G
UCEC-US143136494231364942single base substitutionTC3_prime_UTR_variant
UCEC-US143136494231364942single base substitutionTCmissense_variantH633R1898A>G
UCEC-US143136494231364942single base substitutionTCmissense_variantH717R2150A>G
UCEC-US143138133331381333single base substitutionCT3_prime_UTR_variant
UCEC-US143138133331381333single base substitutionCTdownstream_gene_variant
UCEC-US143138133331381333single base substitutionCTexon_variant
UCEC-US143138133331381333single base substitutionCTmissense_variantR393H1178G>A
UCEC-US143138133331381333single base substitutionCTmissense_variantR477H1430G>A
UCEC-US143138285131382851single base substitutionGAintron_variant
UCEC-US143138285131382851single base substitutionGAmissense_variantT131M392C>T
UCEC-US143138285131382851single base substitutionGAmissense_variantT334M1001C>T
UCEC-US143138285131382851single base substitutionGAmissense_variantT418M1253C>T
UCEC-US143138285131382851single base substitutionGAmissense_variantT99M296C>T
UCEC-US143138285131382851single base substitutionGAupstream_gene_variant
UCEC-US143138821931388219single base substitutionGAintron_variant
UCEC-US143138821931388219single base substitutionGAmissense_variantS398L1193C>T
UCEC-US143138821931388219single base substitutionGAmissense_variantS79L236C>T
UCEC-US143140444731404447single base substitutionCAexon_variant
UCEC-US143140444731404447single base substitutionCAstop_gainedE22*64G>T
UCEC-US143140444731404447single base substitutionCAstop_gainedE304*910G>T
UCEC-US143140444731404447single base substitutionCAstop_gainedE64*190G>T
UCEC-US143140444731404447single base substitutionCAupstream_gene_variant
UCEC-US143140583131405831single base substitutionCAsplice_acceptor_variant
UCEC-US143140583131405831single base substitutionCAupstream_gene_variant
UCEC-US143141635831416358single base substitutionCAexon_variant
UCEC-US143141635831416358single base substitutionCAmissense_variantK218N654G>T
UCEC-US143141635831416358single base substitutionCAmissense_variantK99N297G>T
UCEC-US143142010831420108single base substitutionCTexon_variant
UCEC-US143142010831420108single base substitutionCTmissense_variantS168N503G>A
UCEC-US143142010831420108single base substitutionCTmissense_variantS49N146G>A
UCEC-US143142488531424885single base substitutionTCexon_variant
UCEC-US143142488531424885single base substitutionTCmissense_variantK134R401A>G
UCEC-US143142488531424885single base substitutionTCmissense_variantK15R44A>G
UCEC-US143142538031425380single base substitutionTG5_prime_UTR_variant
UCEC-US143142538031425380single base substitutionTGexon_variant
UCEC-US143142538031425380single base substitutionTGmissense_variantR117S351A>C
UCEC-US143142542431425424single base substitutionCT5_prime_UTR_variant
UCEC-US143142542431425424single base substitutionCTexon_variant
UCEC-US143142542431425424single base substitutionCTmissense_variantE103K307G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
SCC-15COSM3749275c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
GC_325T-GC_325NCOSM4772653c.79A>Gp.N27DSubstitution - Missense14:31026107-31026107-
51COSM955247c.307G>Ap.E103KSubstitution - Missense14:30956218-30956218-
TCGA-BT-A2LB-01COSM3793646c.626C>Tp.S209LSubstitution - Missense14:30947180-30947180-
TCGA-D1-A16Y-01COSM955245c.351A>Cp.R117SSubstitution - Missense14:30956174-30956174-
TCGA-21-1070-01COSM697990c.1513G>Tp.V505FSubstitution - Missense14:30907000-30907000-
TCGA-A8-A093-01COSM432991c.1981_1983delTTAp.L661delLDeletion - In frame14:30905464-30905466-
TCGA-29-1690-01COSM1323517c.585A>Gp.V195VSubstitution - coding silent14:30947221-30947221-
TCGA-A6-5661-01COSM1369515c.1447G>Ap.V483ISubstitution - Missense14:30912110-30912110-
TCGA-E2-A15F-01COSM432997c.1165C>Gp.P389ASubstitution - Missense14:30919041-30919041-
66COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
UD-SCC-2COSM3749275c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-AX-A05T-01COSM955248c.306C>Gp.G102GSubstitution - coding silent14:30956219-30956219-
TCGA-G4-6304-01COSM1369514c.1198C>Tp.R400WSubstitution - Missense14:30912107-30912107-
TCGA-AZ-6601-01COSM1369518c.359T>Gp.M120RSubstitution - Missense14:30956166-30956166-
BHYCOSM3749275c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-A6-5661-01COSM1369516c.1195G>Ap.V399ISubstitution - Missense14:30912110-30912110-
TCGA-AN-A046-01COSM3814667c.799G>Ap.E267KSubstitution - Missense14:30936542-30936542-
TCGA-AP-A0LM-01COSM955247c.307G>Ap.E103KSubstitution - Missense14:30956218-30956218-
30147COSM5038855c.1189_1190insTp.D397fs*20Insertion - Frameshift14:30912115-30912116-
TCGA-CD-5801-01COSM4050453c.671T>Ap.L224QSubstitution - Missense14:30947135-30947135-
TCGA-BS-A0UF-01COSM955243c.401A>Gp.K134RSubstitution - Missense14:30955679-30955679-
GC8_TCOSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
STC232COSM5053913c.1118T>Cp.L373PSubstitution - Missense14:30919088-30919088-
TCGA-B0-5098-01COSM1493289c.528A>Tp.R176SSubstitution - Missense14:30950877-30950877-
TCGA-AX-A0J1-01COSM955231c.1253C>Tp.T418MSubstitution - Missense14:30913645-30913645-
TCGA-BR-4201-01COSM4050452c.2014A>Gp.T672ASubstitution - Missense14:30895539-30895539-
ESCC-F94COSM5049176c.2008C>Gp.L670VSubstitution - Missense14:30905439-30905439-
TCGA-AM-5821-01COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
TCGA-BP-5010-01COSM469895c.914T>Ap.F305YSubstitution - Missense14:30935237-30935237-
18COSM1369512c.1544delAp.N515fs*42Deletion - Frameshift14:30906969-30906969-
TCGA-FS-A1ZQ-06COSM3495660c.426C>Tp.N142NSubstitution - coding silent14:30955654-30955654-
CH-56-T2COSM5651158c.1024G>Ap.D342NSubstitution - Missense14:30929276-30929276-
18COSM1369511c.1796delAp.N599fs*42Deletion - Frameshift14:30906969-30906969-
55COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
T2950COSM4730680c.2192T>Cp.V731ASubstitution - Missense14:30895694-30895694-
30147COSM5038854c.1441_1442insTp.D481fs*20Insertion - Frameshift14:30912115-30912116-
Pat_34_ACOSM5848007c.484C>Tp.P162SSubstitution - Missense14:30950921-30950921-
TCGA-BS-A0TC-01COSM955238c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
S00936COSM315671c.2069A>Cp.H690PSubstitution - Missense14:30902604-30902604-
Pat_41_ACOSM2034258c.1436C>Tp.P479LSubstitution - Missense14:30911073-30911073-
216COSM4424644c.740C>Tp.T247MSubstitution - Missense14:30936601-30936601-
CSCC-38-TCOSM4473539c.1606C>Tp.P536SSubstitution - Missense14:30906907-30906907-
260211COSM3725985c.2130A>Tp.K710NSubstitution - Missense14:30895423-30895423-
ESCC-D20COSM5045967c.795G>Ap.M265ISubstitution - Missense14:30936546-30936546-
Pat_34_ACOSM5848008c.484C>Tp.P162SSubstitution - Missense14:30950921-30950921-
721LTCOSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
HCC077TCOSM5810411c.2105G>Tp.S702ISubstitution - Missense14:30895448-30895448-
TCGA-06-0743-01COSM3401286c.322G>Tp.E108*Substitution - Nonsense14:30956203-30956203-
19COSM5747530c.2378C>Tp.A793VSubstitution - Missense14:30895427-30895427-
TCGA-BS-A0UF-01COSM955242c.401A>Gp.K134RSubstitution - Missense14:30955679-30955679-
TCGA-AP-A059-01COSM955221c.2194G>Tp.D732YSubstitution - Missense14:30895692-30895692-
TCGA-BS-A0TC-01COSM955239c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
S02279COSM5683594c.1857G>Ap.L619LSubstitution - coding silent14:30906908-30906908-
TCGA-EB-A553-01COSM3495653c.1285A>Gp.M429VSubstitution - Missense14:30913613-30913613-
LUAD-NYU847COSM392069c.951_959delTGGAGAAGCp.G318_A320delGEADeletion - In frame14:30935192-30935200-
SS6003312COSM3665022c.1135G>Tp.D379YSubstitution - Missense14:30919071-30919071-
LUAD-E00934COSM404930c.66_67insCAGp.Q22_G23insQInsertion - In frame14:31026119-31026120-
TCGA-B5-A11E-01COSM955235c.910G>Tp.E304*Substitution - Nonsense14:30935241-30935241-
TCGA-AA-3977-01COSM955239c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
TCGA-A6-3809-01COSM1369512c.1544delAp.N515fs*42Deletion - Frameshift14:30906969-30906969-
TCGA-BR-4292-01COSM4050457c.417G>Ap.T139TSubstitution - coding silent14:30955663-30955663-
SW1222COSM4654729c.965G>Ap.S322NSubstitution - Missense14:30935186-30935186-
SC_9008COSM5049222c.1885+1G>Ap.?Unknown14:30902535-30902535-
LUAD-F00089COSM339607c.1400G>Ap.R467QSubstitution - Missense14:30912157-30912157-
CPCG0183-P2COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
LUAD-E00934COSM404929c.66_67insCAGp.Q22_G23insQInsertion - In frame14:31026119-31026120-
TCGA-BP-4976-01COSM1493290c.1787G>Ap.G596DSubstitution - Missense14:30906978-30906978-
SNU-C2BCOSM2034258c.1436C>Tp.P479LSubstitution - Missense14:30911073-30911073-
TCGA-B0-5701-01COSM469896c.547C>Ap.L183ISubstitution - Missense14:30947259-30947259-
260211COSM3725984c.2382A>Tp.K794NSubstitution - Missense14:30895423-30895423-
PTC-73CCOSM3749275c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
RK056_C01COSM1629270c.851-4A>Tp.?Unknown14:30935304-30935304-
HCA7COSM1369512c.1544delAp.N515fs*42Deletion - Frameshift14:30906969-30906969-
TCGA-AP-A059-01COSM955229c.1430G>Ap.R477HSubstitution - Missense14:30912127-30912127-
TCGA-AP-A059-01COSM955237c.717-1G>Tp.?Unknown14:30936625-30936625-
TCGA-BP-5010-01COSM469894c.914T>Ap.F305YSubstitution - Missense14:30935237-30935237-
TCGA-AF-6136-01COSM3749274c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-G3-A25V-01COSM4914518c.1249A>Gp.I417VSubstitution - Missense14:30913649-30913649-
TCGA-DH-5143-01COSM3968780c.1687C>Tp.P563SSubstitution - Missense14:30911074-30911074-
74COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
587222COSM1227934c.1964G>Cp.S655TSubstitution - Missense14:30905483-30905483-
Gp2DCOSM4627247c.2195A>Gp.D732GSubstitution - Missense14:30895691-30895691-
TCGA-EE-A2GI-06COSM3495652c.1162C>Tp.P388SSubstitution - Missense14:30912143-30912143-
S01542COSM5669554c.126T>Gp.G42GSubstitution - coding silent14:31026060-31026060-
LUAD-F00089COSM339608c.1148G>Ap.R383QSubstitution - Missense14:30912157-30912157-
MBRep_T3COSM215585c.1435C>Ap.P479TSubstitution - Missense14:30911074-30911074-
Pat_41_ACOSM2034257c.1688C>Tp.P563LSubstitution - Missense14:30911073-30911073-
PTC-73CCOSM3749274c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-F4-6570-01COSM5171860c.2060C>Ap.S687*Substitution - Nonsense14:30895493-30895493-
TCGA-AM-5820-01COSM3753932c.294A>Gp.A98ASubstitution - coding silent14:30956231-30956231-
TCGA-CJ-4907-01COSM469891c.1856T>Ap.L619*Substitution - Nonsense14:30906909-30906909-
HCA7COSM1369511c.1796delAp.N599fs*42Deletion - Frameshift14:30906969-30906969-
55COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
MBRep_T3COSM4787402c.1687C>Ap.P563TSubstitution - Missense14:30911074-30911074-
TCGA-AX-A05Z-01COSM955223c.2167T>Gp.L723VSubstitution - Missense14:30895719-30895719-
T3091COSM4730684c.263T>Cp.V88ASubstitution - Missense14:31025923-31025923-
TCGA-AX-A0J0-01COSM955239c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
TCGA-CJ-4907-01COSM469892c.1604T>Ap.L535*Substitution - Nonsense14:30906909-30906909-
TCGA-EI-6917-01COSM3419762c.1399C>Tp.R467*Substitution - Nonsense14:30912158-30912158-
T2940COSM4730682c.1802T>Cp.L601SSubstitution - Missense14:30906963-30906963-
PD4106aCOSM164670c.1397G>Cp.S466TSubstitution - Missense14:30911112-30911112-
6948_PTCOSM5754571c.830G>Ap.R277QSubstitution - Missense14:30936511-30936511-
TCGA-B5-A0JY-01COSM955225c.2150A>Gp.H717RSubstitution - Missense14:30895736-30895736-
ESCC-F97COSM5049221c.2137+1G>Ap.?Unknown14:30902535-30902535-
TCGA-B0-5812-01COSM469893c.1100-2A>Gp.?Unknown14:30919108-30919108-
Gp2DCOSM4627250c.1640A>Tp.H547LSubstitution - Missense14:30905555-30905555-
84COSM5015219c.1250T>Cp.I417TSubstitution - Missense14:30913648-30913648-
TCGA-FS-A1ZQ-06COSM3495659c.426C>Tp.N142NSubstitution - coding silent14:30955654-30955654-
TCGA-BR-8487-01COSM4050455c.588G>Ap.R196RSubstitution - coding silent14:30947218-30947218-
ESO-155COSM1266980c.1009A>Gp.T337ASubstitution - Missense14:30929291-30929291-
TCGA-BR-4292-01COSM4050458c.417G>Ap.T139TSubstitution - coding silent14:30955663-30955663-
TCGA-56-5897-01COSM697984c.1025C>Tp.S342LSubstitution - Missense14:30913621-30913621-
CSCC-38-TCOSM4473538c.1858C>Tp.P620SSubstitution - Missense14:30906907-30906907-
SW1222COSM4654728c.965G>Ap.S322NSubstitution - Missense14:30935186-30935186-
S00827COSM315669c.1240+3A>Gp.?Unknown14:30918963-30918963-
TCGA-BS-A0UF-01COSM955239c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
TCGA-06-0743-01COSM3401285c.322G>Tp.E108*Substitution - Nonsense14:30956203-30956203-
TCGA-B0-5701-01COSM469897c.547C>Ap.L183ISubstitution - Missense14:30947259-30947259-
TCGA-ER-A19P-06COSM3495658c.529C>Gp.Q177ESubstitution - Missense14:30950876-30950876-
TCGA-21-1070-01COSM697989c.1765G>Tp.V589FSubstitution - Missense14:30907000-30907000-
HN_62854COSM129480c.319C>Gp.Q107ESubstitution - Missense14:30956206-30956206-
PD5956aCOSM5772079c.826C>Tp.H276YSubstitution - Missense14:30936515-30936515-
TCGA-AA-3672-01COSM267528c.1248G>Tp.E416DSubstitution - Missense14:30912057-30912057-
UM-SCC-11BCOSM3749275c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
LUAD-F00018COSM338990c.461-2A>Gp.?Unknown14:30950946-30950946-
HCC160TCOSM5819228c.255C>Gp.H85QSubstitution - Missense14:31025931-31025931-
TCGA-AP-A059-01COSM955236c.717-1G>Tp.?Unknown14:30936625-30936625-
T3091COSM4730685c.263T>Cp.V88ASubstitution - Missense14:31025923-31025923-
TCGA-EB-A5UN-06COSM2034282c.968C>Tp.S323LSubstitution - Missense14:30935183-30935183-
TCGA-AZ-6601-01COSM1369517c.359T>Gp.M120RSubstitution - Missense14:30956166-30956166-
TCGA-BH-A0B6-01COSM3814666c.2060C>Gp.S687*Substitution - Nonsense14:30895493-30895493-
TCGA-BR-8487-01COSM4050456c.588G>Ap.R196RSubstitution - coding silent14:30947218-30947218-
28COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
T2940COSM4730683c.1550T>Cp.L517SSubstitution - Missense14:30906963-30906963-
587222COSM1227935c.1712G>Cp.S571TSubstitution - Missense14:30905483-30905483-
TCGA-09-1665-01COSM118543c.423G>Ap.L141LSubstitution - coding silent14:30955657-30955657-
B70-TumorCOSM1748803c.1199C>Tp.S400FSubstitution - Missense14:30919007-30919007-
TCGA-G3-A25V-01COSM4914519c.997A>Gp.I333VSubstitution - Missense14:30913649-30913649-
BD175TCOSM5507872c.1447G>Cp.V483LSubstitution - Missense14:30912110-30912110-
TCGA-BH-A0DK-01COSM432994c.1287T>Gp.V429VSubstitution - coding silent14:30912018-30912018-
SNU-C2BCOSM2034257c.1688C>Tp.P563LSubstitution - Missense14:30911073-30911073-
TCGA-D1-A16Y-01COSM955244c.351A>Cp.R117SSubstitution - Missense14:30956174-30956174-
TCGA-AA-3833-01COSM5112265c.1469-7T>Cp.?Unknown14:30907051-30907051-
TCGA-AA-3977-01COSM5118090c.605C>Ap.S202*Substitution - Nonsense14:30947201-30947201-
TCGA-AM-5820-01COSM3753931c.294A>Gp.A98ASubstitution - coding silent14:30956231-30956231-
PT52COSM5940474c.1828C>Tp.P610SSubstitution - Missense14:30902593-30902593-
T2950COSM4730681c.1940T>Cp.V647ASubstitution - Missense14:30895694-30895694-
Au3COSM5602378c.1169C>Tp.S390LSubstitution - Missense14:30919037-30919037-
PTC-14CCOSM4148077c.587G>Tp.R196LSubstitution - Missense14:30947219-30947219-
TCGA-D9-A6EC-06COSM4399999c.1910T>Gp.V637GSubstitution - Missense14:30905537-30905537-
TCGA-AN-A046-01COSM3814668c.799G>Ap.E267KSubstitution - Missense14:30936542-30936542-
TCGA-AX-A05Z-01COSM955224c.1915T>Gp.L639VSubstitution - Missense14:30895719-30895719-
RK056_C01COSM1629269c.847A>Tp.I283LSubstitution - Missense14:30935304-30935304-
RKOCOSM2034237c.2289T>Cp.A763ASubstitution - coding silent14:30895516-30895516-
YUPAERCOSM5382196c.196_197CC>TTp.P66LSubstitution - Missense14:31025989-31025990-
S01542COSM5669555c.126T>Gp.G42GSubstitution - coding silent14:31026060-31026060-
PTC_448COSM5959257c.287G>Ap.R96QSubstitution - Missense14:30956238-30956238-
TCGA-D1-A160-01COSM955241c.503G>Ap.S168NSubstitution - Missense14:30950902-30950902-
LUAD-E01014COSM393900c.1166C>Gp.P389RSubstitution - Missense14:30919040-30919040-
216COSM4424643c.740C>Tp.T247MSubstitution - Missense14:30936601-30936601-
84COSM5015220c.998T>Cp.I333TSubstitution - Missense14:30913648-30913648-
721LTCOSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
TCGA-G4-6322-01COSM5177717c.1597delGp.E533fs*24Deletion - Frameshift14:30906916-30906916-
TCGA-BS-A0UF-01COSM955238c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
TCGA-AX-A2HF-01COSM955233c.1193C>Tp.S398LSubstitution - Missense14:30919013-30919013-
SNUH_G76_S1COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
BHYCOSM3749274c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
C91COSM4444474c.595C>Tp.R199WSubstitution - Missense14:30947211-30947211-
TCGA-D3-A3ML-06COSM3495656c.991G>Ap.E331KSubstitution - Missense14:30913655-30913655-
TCGA-EB-A553-01COSM3495654c.1033A>Gp.M345VSubstitution - Missense14:30913613-30913613-
TCGA-AA-A010-01COSM285430c.718T>Cp.S240PSubstitution - Missense14:30936623-30936623-
TCGA-BR-8361-01COSM2034262c.1348G>Ap.G450SSubstitution - Missense14:30911161-30911161-
92COSM5015218c.1544A>Gp.N515SSubstitution - Missense14:30906969-30906969-
TCGA-56-5897-01COSM697983c.1277C>Tp.S426LSubstitution - Missense14:30913621-30913621-
S02279COSM5683595c.1605G>Ap.L535LSubstitution - coding silent14:30906908-30906908-
ESCC-F97COSM5049222c.1885+1G>Ap.?Unknown14:30902535-30902535-
TCGA-BH-A0B6-01COSM3814665c.2312C>Gp.S771*Substitution - Nonsense14:30895493-30895493-
BD175TCOSM5507873c.1195G>Cp.V399LSubstitution - Missense14:30912110-30912110-
RKOCOSM2034238c.2037T>Cp.A679ASubstitution - coding silent14:30895516-30895516-
CHEWS033COSM4577826c.740C>Ap.T247KSubstitution - Missense14:30936601-30936601-
LUAD-F00018COSM338989c.461-2A>Gp.?Unknown14:30950946-30950946-
51COSM955246c.307G>Ap.E103KSubstitution - Missense14:30956218-30956218-
TCGA-AP-A059-01COSM955230c.1178G>Ap.R393HSubstitution - Missense14:30912127-30912127-
TCGA-B0-5098-01COSM1493288c.528A>Tp.R176SSubstitution - Missense14:30950877-30950877-
TCGA-G4-6322-01COSM5177716c.1849delGp.E617fs*24Deletion - Frameshift14:30906916-30906916-
TCGA-CA-6718-01COSM1369520c.311G>Tp.R104ISubstitution - Missense14:30956214-30956214-
Gp2DCOSM4627249c.1892A>Tp.H631LSubstitution - Missense14:30905555-30905555-
S01864COSM5671627c.614G>Ap.G205ESubstitution - Missense14:30947192-30947192-
TCGA-EI-6917-01COSM3419763c.1147C>Tp.R383*Substitution - Nonsense14:30912158-30912158-
TCGA-BH-A0BP-01COSM432996c.1203A>Gp.A401ASubstitution - coding silent14:30912102-30912102-
TCGA-DI-A0WH-01COSM955227c.1630A>Gp.N544DSubstitution - Missense14:30911131-30911131-
TCGA-EE-A2GI-06COSM3495651c.1414C>Tp.P472SSubstitution - Missense14:30912143-30912143-
TCGA-BH-A0BP-01COSM432995c.1455A>Gp.A485ASubstitution - coding silent14:30912102-30912102-
TCGA-D1-A160-01COSM955240c.503G>Ap.S168NSubstitution - Missense14:30950902-30950902-
UD-SCC-2COSM3749274c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-AP-A059-01COSM955222c.1942G>Tp.D648YSubstitution - Missense14:30895692-30895692-
SCC-15COSM3749274c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-AM-5821-01COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
CSCC-11-TCOSM4451647c.1083A>Tp.A361ASubstitution - coding silent14:30913563-30913563-
CH-LA4COSM4166338c.1501G>Cp.D501HSubstitution - Missense14:30912056-30912056-
TCGA-AF-6136-01COSM3749275c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
ESCC-F94COSM5049177c.1756C>Gp.L586VSubstitution - Missense14:30905439-30905439-
PD5956aCOSM5772080c.826C>Tp.H276YSubstitution - Missense14:30936515-30936515-
ESCC-F66COSM5048283c.1252A>Gp.T418ASubstitution - Missense14:30913646-30913646-
TCGA-AX-A0J0-01COSM955238c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
S00936COSM315670c.1817A>Cp.H606PSubstitution - Missense14:30902604-30902604-
TCGA-D9-A6EC-06COSM4400000c.1658T>Gp.V553GSubstitution - Missense14:30905537-30905537-
ESO-0071COSM955238c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
TCGA-D3-A3ML-06COSM3495655c.1243G>Ap.E415KSubstitution - Missense14:30913655-30913655-
CSCC-60-TCOSM4551255c.523G>Ap.G175SSubstitution - Missense14:30950882-30950882-
HCC077TCOSM5810410c.2357G>Tp.S786ISubstitution - Missense14:30895448-30895448-
PTC_448COSM5959256c.287G>Ap.R96QSubstitution - Missense14:30956238-30956238-
HCC160TCOSM5819227c.255C>Gp.H85QSubstitution - Missense14:31025931-31025931-
TCGA-33-4586-01COSM697988c.1326C>Gp.I442MSubstitution - Missense14:30911797-30911797-
250LTCOSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
S01864COSM5671628c.614G>Ap.G205ESubstitution - Missense14:30947192-30947192-
6948_PTCOSM5754572c.830G>Ap.R277QSubstitution - Missense14:30936511-30936511-
TCGA-DI-A0WH-01COSM955228c.1378A>Gp.N460DSubstitution - Missense14:30911131-30911131-
YUPAERCOSM5382197c.196_197CC>TTp.P66LSubstitution - Missense14:31025989-31025990-
250LTCOSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
TCGA-BR-4201-01COSM4050451c.2266A>Gp.T756ASubstitution - Missense14:30895539-30895539-
C91COSM4444475c.595C>Tp.R199WSubstitution - Missense14:30947211-30947211-
CPCG0183-P2COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
TCGA-DH-5143-01COSM3968781c.1435C>Tp.P479SSubstitution - Missense14:30911074-30911074-
PT52COSM5940473c.2080C>Tp.P694SSubstitution - Missense14:30902593-30902593-
ESCC-F66COSM5048284c.1000A>Gp.T334ASubstitution - Missense14:30913646-30913646-
S00827COSM315669c.1240+3A>Gp.?Unknown14:30918963-30918963-
SNUH_G76_S1COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
ME043TCOSM228608c.1286T>Cp.V429ASubstitution - Missense14:30912019-30912019-
GC_325T-GC_325NCOSM4772652c.79A>Gp.N27DSubstitution - Missense14:31026107-31026107-
TCGA-33-4586-01COSM697987c.1578C>Gp.I526MSubstitution - Missense14:30911797-30911797-
CHEWS033COSM4577825c.740C>Ap.T247KSubstitution - Missense14:30936601-30936601-
TCGA-A8-A093-01COSM432992c.1729_1731delTTAp.L577delLDeletion - In frame14:30905464-30905466-
TCGA-ER-A19P-06COSM3495657c.529C>Gp.Q177ESubstitution - Missense14:30950876-30950876-
CH-LA4COSM4166339c.1249G>Cp.D417HSubstitution - Missense14:30912056-30912056-
TCGA-BP-4976-01COSM1493291c.1535G>Ap.G512DSubstitution - Missense14:30906978-30906978-
TCGA-AX-A0J1-01COSM955232c.1001C>Tp.T334MSubstitution - Missense14:30913645-30913645-
B70COSM1748803c.1199C>Tp.S400FSubstitution - Missense14:30919007-30919007-
TCGA-AX-A05T-01COSM955249c.306C>Gp.G102GSubstitution - coding silent14:30956219-30956219-
74COSM147761c.1160A>Gp.N387SSubstitution - Missense14:30912145-30912145-
TCGA-EB-A5UN-06COSM2034283c.968C>Tp.S323LSubstitution - Missense14:30935183-30935183-
PD4106aCOSM4809577c.1649G>Cp.S550TSubstitution - Missense14:30911112-30911112-
19COSM5747531c.2126C>Tp.A709VSubstitution - Missense14:30895427-30895427-
TCGA-29-1690-01COSM1323516c.585A>Gp.V195VSubstitution - coding silent14:30947221-30947221-
LUAD-NYU847COSM392068c.951_959delTGGAGAAGCp.G318_A320delGEADeletion - In frame14:30935192-30935200-
CSCC-11-TCOSM4451646c.1335A>Tp.A445ASubstitution - coding silent14:30913563-30913563-
PTC-14CCOSM4148078c.587G>Tp.R196LSubstitution - Missense14:30947219-30947219-
ESO-0071COSM955239c.654G>Tp.K218NSubstitution - Missense14:30947152-30947152-
TCGA-CD-5801-01COSM4050454c.671T>Ap.L224QSubstitution - Missense14:30947135-30947135-
CSCC-60-TCOSM4551256c.523G>Ap.G175SSubstitution - Missense14:30950882-30950882-
UM-SCC-11BCOSM3749274c.46G>Ap.A16TSubstitution - Missense14:31026140-31026140-
TCGA-B5-A0JY-01COSM955226c.1898A>Gp.H633RSubstitution - Missense14:30895736-30895736-
92COSM5015217c.1796A>Gp.N599SSubstitution - Missense14:30906969-30906969-
TCGA-BR-8361-01COSM2034261c.1600G>Ap.G534SSubstitution - Missense14:30911161-30911161-
66COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
TCGA-AP-A0LM-01COSM955246c.307G>Ap.E103KSubstitution - Missense14:30956218-30956218-
ESCC-D20COSM5045966c.795G>Ap.M265ISubstitution - Missense14:30936546-30936546-
Gp2DCOSM4627248c.1943A>Gp.D648GSubstitution - Missense14:30895691-30895691-
28COSM3753930c.1412A>Gp.N471SSubstitution - Missense14:30912145-30912145-
TCGA-B5-A11E-01COSM955234c.910G>Tp.E304*Substitution - Nonsense14:30935241-30935241-
TCGA-CA-6718-01COSM1369519c.311G>Tp.R104ISubstitution - Missense14:30956214-30956214-
TCGA-BH-A0DK-01COSM432993c.1539T>Gp.V513VSubstitution - coding silent14:30912018-30912018-
SC_9008COSM5049221c.2137+1G>Ap.?Unknown14:30902535-30902535-
TCGA-BT-A2LB-01COSM3793647c.626C>Tp.S209LSubstitution - Missense14:30947180-30947180-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.40184314q13-q21614766
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.F250Vc.748T>G1431405799HNSC
ACSynonymousp.V513Vc.1539T>G1431381224BRCA
AGMissensep.V513Ac.1538T>C1431381225CM
A-IntronicDeletion.c.461-13delT1431420163STAD
-AIntronicInsertion.c.989-25dupT1431398542ESCA
ATMissensep.F305Yc.914T>A1431404443RCCC
ATNonsensep.L619*c.1856T>A1431376115RCCC
CAMissensep.D255Yc.763G>T1431405784HNSC
CAMissensep.K218Nc.654G>T1431416358ESCA
CAMissensep.K218Nc.654G>T1431416358UCEC
CAMissensep.V589Fc.1765G>T1431376206LUSC
CANonsensep.E108*c.322G>T1431425409GBM
CASpliceAcceptorSNV.c.543-1G>T1431416470LUAD
CGMissensep.S550Tc.1649G>C1431380318BRCA
CTIntronicSNV.c.282+11226G>A1431483884LUSC
CTMissensep.E412Kc.1234G>A1431388178LUAD
CTMissensep.E415Kc.1243G>A1431382861CM
CTMissensep.S168Nc.503G>A1431420108UCEC
CTSynonymousp.L141Lc.423G>A1431424863OV
CTSynonymousp.Q665Qc.1995G>A1431374658CM
CTSynonymousp.T139Tc.417G>A1431424869STAD
GAIntronicSNV.c.282+7226C>T1431487884CM
GAMissensep.P472Sc.1414C>T1431381349CM
GAMissensep.P563Sc.1687C>T1431380280HNSC
GAMissensep.P563Sc.1687C>T1431380280LGG
GAMissensep.S209Lc.626C>T1431416386BLCA
GAMissensep.S398Lc.1193C>T1431388219UCEC
GAMissensep.S426Lc.1277C>T1431382827LUSC
GASynonymousp.N142Nc.426C>T1431424860CM
GCMissensep.I526Mc.1578C>G1431381003LUSC
GCMissensep.P389Ac.1165C>G1431388247BRCA
GCMissensep.Q107Ec.319C>G1431425412HNSC
GCMissensep.Q177Ec.529C>G1431420082CM
GTIntronicSNV.c.1375-82C>A1431381470MB
GTIntronicSNV.c.282+11252C>A1431483858BRCA
GTMissensep.L183Ic.547C>A1431416465RCCC
GTMissensep.P563Tc.1687C>A1431380280MB
TAA-InFrameDeletionp.L661delLc.1981_1983delTTA1431374670BRCA
TAIntronicSNV.c.282+15344A>T1431479766CLL
TAIntronicSNV.c.283-18848A>T1431444296CLL
TAMissensep.I283Lc.847A>T1431404510HC
TASynonymousp.V648Vc.1944A>T1431374709LUAD
TCIntronicSNV.c.1240+3A>G1431388169SCLC
TCIntronicSNV.c.1241-46A>G1431382909STAD
TCMissensep.N279Sc.836A>G1431405711HNSC
TCMissensep.T337Ac.1009A>G1431398497ESCA
TCMissensep.T756Ac.2266A>G1431364745STAD
TCSynonymousp.A485Ac.1455A>G1431381308BRCA
TGMissensep.H690Pc.2069A>C1431371810SCLC
TGMissensep.R117Sc.351A>C1431425380UCEC
-TTGAGACAGIntronicInsertion.c.282+12019_282+12020insCTGTCTCAA1431483090CLL