UFL1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC69699975096999750+Missense_MutationSNPGGTTCGA-OR-A5KB-01A-11D-A30A-10TCGA-OR-A5KB-11A-11D-A30A-10g.chr6:96999750G>Tc.1936G>Tc.(1936-1938)Gca>Tcap.A646S
BLCA69696976896969768+Missense_MutationSNPGGCTCGA-KQ-A41P-01A-12D-A339-08TCGA-KQ-A41P-10F-01D-A339-08g.chr6:96969768G>Cc.19G>Cc.(19-21)Gag>Cagp.E7Q
BLCA69697103196971031+SilentSNPGGATCGA-YF-AA3L-01A-11D-A38G-08TCGA-YF-AA3L-10A-01D-A38J-08g.chr6:96971031G>Ac.87G>Ac.(85-87)gaG>gaAp.E29E
BLCA69697104496971044+Missense_MutationSNPGGCTCGA-LT-A5Z6-01A-11D-A289-08TCGA-LT-A5Z6-10A-01D-A289-08g.chr6:96971044G>Cc.100G>Cc.(100-102)Gag>Cagp.E34Q
BLCA69697321296973212+Missense_MutationSNPGGTTCGA-UY-A78L-01A-12D-A339-08TCGA-UY-A78L-10A-01D-A339-08g.chr6:96973212G>Tc.292G>Tc.(292-294)Ggt>Tgtp.G98C
BLCA69699087196990871+Missense_MutationSNPGGATCGA-CU-A0YN-01A-21D-A10S-08TCGA-CU-A0YN-11A-11D-A10S-08g.chr6:96990871G>Ac.1381G>Ac.(1381-1383)Gaa>Aaap.E461K
BLCA69699933796999337+Nonsense_MutationSNPCCGTCGA-2F-A9KO-01A-11D-A38G-08TCGA-2F-A9KO-11A-12D-A38J-08g.chr6:96999337C>Gc.1847C>Gc.(1846-1848)tCa>tGap.S616*
BLCA69700045597000455+Missense_MutationSNPCCATCGA-GV-A3QI-01A-11D-A21Z-08TCGA-GV-A3QI-10A-01D-A21Z-08g.chr6:97000455C>Ac.2083C>Ac.(2083-2085)Cag>Aagp.Q695K
BLCA69700117397001173+Missense_MutationSNPCCTTCGA-E7-A7XN-01A-11D-A34U-08TCGA-E7-A7XN-10A-01D-A34X-08g.chr6:97001173C>Tc.2179C>Tc.(2179-2181)Ctt>Tttp.L727F
BRCA69697116896971168+Splice_SiteSNPGGATCGA-EW-A1P8-01A-11D-A142-09TCGA-EW-A1P8-10A-01D-A142-09g.chr6:96971168G>Ac.e2+1
BRCA69699079996990799+Missense_MutationSNPGGATCGA-E9-A22H-01A-11D-A159-09TCGA-E9-A22H-10A-01D-A17G-09g.chr6:96990799G>Ac.1309G>Ac.(1309-1311)Ggg>Aggp.G437R
BRCA69699729296997292+Missense_MutationSNPCCGTCGA-C8-A1HM-01A-12D-A135-09TCGA-C8-A1HM-10A-01D-A135-09g.chr6:96997292C>Gc.1525C>Gc.(1525-1527)Ctt>Gttp.L509V
BRCA69699737696997376+Missense_MutationSNPAAGTCGA-A2-A04P-01A-31D-A128-09TCGA-A2-A04P-10A-01W-A055-09g.chr6:96997376A>Gc.1609A>Gc.(1609-1611)Atc>Gtcp.I537V
BRCA69699937496999374+Missense_MutationSNPCCGTCGA-D8-A1JK-01A-11D-A13L-09TCGA-D8-A1JK-10A-01D-A13O-09g.chr6:96999374C>Gc.1884C>Gc.(1882-1884)aaC>aaGp.N628K
BRCA69700122697001226+Missense_MutationSNPGGCTCGA-AR-A1AI-01A-11D-A12Q-09TCGA-AR-A1AI-10A-01D-A12Q-09g.chr6:97001226G>Cc.2232G>Cc.(2230-2232)aaG>aaCp.K744N
BRCA69700136997001369+Missense_MutationSNPCCTTCGA-EW-A1IZ-01A-11D-A188-09TCGA-EW-A1IZ-10A-01D-A13O-09g.chr6:97001369C>Tc.2375C>Tc.(2374-2376)aCg>aTgp.T792M
CESC69697106196971061+SilentSNPGGATCGA-DR-A0ZM-01A-12D-A10S-08TCGA-DR-A0ZM-10A-01D-A10S-08g.chr6:96971061G>Ac.117G>Ac.(115-117)ttG>ttAp.L39L
CESC69698851396988513+Nonsense_MutationSNPCCTTCGA-DS-A0VK-01A-21D-A10S-08TCGA-DS-A0VK-10A-01D-A10S-08g.chr6:96988513C>Tc.1261C>Tc.(1261-1263)Cga>Tgap.R421*
CESC69699614496996144+Missense_MutationSNPGGCTCGA-UC-A7PF-01A-11D-A351-09TCGA-UC-A7PF-11A-31D-A351-09g.chr6:96996144G>Cc.1507G>Cc.(1507-1509)Gag>Cagp.E503Q
COAD69697105296971052+SilentSNPTTCTCGA-AA-3950-01A-02W-0995-10TCGA-AA-3950-10A-01W-0995-10g.chr6:96971052T>Cc.108T>Cc.(106-108)gtT>gtCp.V36V
COAD69697641396976413+SilentSNPAAGTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr6:96976413A>Gc.501A>Gc.(499-501)ggA>ggGp.G167G
COAD69698418396984183+Missense_MutationSNPAAGTCGA-AA-3710-01A-01W-0995-10TCGA-AA-3710-10A-01W-0995-10g.chr6:96984183A>Gc.719A>Gc.(718-720)gAt>gGtp.D240G
COAD69698529096985290+SilentSNPAAGTCGA-AA-A00J-01A-02W-A005-10TCGA-AA-A00J-10A-01W-A005-10g.chr6:96985290A>Gc.843A>Gc.(841-843)gtA>gtGp.V281V
COAD69698655696986556+Missense_MutationSNPAACTCGA-DM-A285-01A-11D-A16V-10TCGA-DM-A285-10A-01D-A16V-10g.chr6:96986556A>Cc.1028A>Cc.(1027-1029)cAg>cCgp.Q343P
COAD69698659596986595+Missense_MutationSNPTTCTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr6:96986595T>Cc.1067T>Cc.(1066-1068)gTa>gCap.V356A
COAD69698848996988489+Missense_MutationSNPAAGTCGA-CM-6680-01A-11D-1835-10TCGA-CM-6680-10A-01D-1835-10g.chr6:96988489A>Gc.1237A>Gc.(1237-1239)Agt>Ggtp.S413G
COAD69698849196988491+Missense_MutationSNPTTATCGA-AA-3713-01A-21D-1719-10TCGA-AA-3713-11A-01D-1719-10g.chr6:96988491T>Ac.1239T>Ac.(1237-1239)agT>agAp.S413R
COAD69698849196988491+SilentSNPTTCTCGA-CA-6718-01A-11D-1835-10TCGA-CA-6718-10A-01D-1835-10g.chr6:96988491T>Cc.1239T>Cc.(1237-1239)agT>agCp.S413S
COAD69699743196997431+Missense_MutationSNPAAGTCGA-CM-4744-01A-01D-1408-10TCGA-CM-4744-10A-01D-1408-10g.chr6:96997431A>Gc.1664A>Gc.(1663-1665)gAa>gGap.E555G
COAD69700134697001346+SilentSNPCCGTCGA-CA-6716-01A-11D-1835-10TCGA-CA-6716-10A-01D-1835-10g.chr6:97001346C>Gc.2352C>Gc.(2350-2352)ctC>ctGp.L784L
COADREAD69697105296971052+SilentSNPTTCTCGA-AA-3950-01A-02W-0995-10TCGA-AA-3950-10A-01W-0995-10g.chr6:96971052T>Cc.108T>Cc.(106-108)gtT>gtCp.V36V
COADREAD69697320796973207+Missense_MutationSNPGGTTCGA-AG-3892-01A-01W-1073-09TCGA-AG-3892-10A-01W-1073-09g.chr6:96973207G>Tc.287G>Tc.(286-288)aGa>aTap.R96I
COADREAD69697641396976413+SilentSNPAAGTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr6:96976413A>Gc.501A>Gc.(499-501)ggA>ggGp.G167G
COADREAD69698418396984183+Missense_MutationSNPAAGTCGA-AA-3710-01A-01W-0995-10TCGA-AA-3710-10A-01W-0995-10g.chr6:96984183A>Gc.719A>Gc.(718-720)gAt>gGtp.D240G
COADREAD69698529096985290+SilentSNPAAGTCGA-AA-A00J-01A-02W-A005-10TCGA-AA-A00J-10A-01W-A005-10g.chr6:96985290A>Gc.843A>Gc.(841-843)gtA>gtGp.V281V
COADREAD69698655696986556+Missense_MutationSNPAACTCGA-DM-A285-01A-11D-A16V-10TCGA-DM-A285-10A-01D-A16V-10g.chr6:96986556A>Cc.1028A>Cc.(1027-1029)cAg>cCgp.Q343P
COADREAD69698659596986595+Missense_MutationSNPTTCTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr6:96986595T>Cc.1067T>Cc.(1066-1068)gTa>gCap.V356A
COADREAD69698848996988489+Missense_MutationSNPAAGTCGA-CM-6680-01A-11D-1835-10TCGA-CM-6680-10A-01D-1835-10g.chr6:96988489A>Gc.1237A>Gc.(1237-1239)Agt>Ggtp.S413G
COADREAD69698848996988489+Missense_MutationSNPAAGTCGA-DY-A1DD-01A-21D-A152-10TCGA-DY-A1DD-10A-01D-A152-10g.chr6:96988489A>Gc.1237A>Gc.(1237-1239)Agt>Ggtp.S413G
COADREAD69698849196988491+Missense_MutationSNPTTATCGA-AA-3713-01A-21D-1719-10TCGA-AA-3713-11A-01D-1719-10g.chr6:96988491T>Ac.1239T>Ac.(1237-1239)agT>agAp.S413R
COADREAD69698849196988491+SilentSNPTTCTCGA-CA-6718-01A-11D-1835-10TCGA-CA-6718-10A-01D-1835-10g.chr6:96988491T>Cc.1239T>Cc.(1237-1239)agT>agCp.S413S
COADREAD69699086496990864+Missense_MutationSNPTTGTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr6:96990864T>Gc.1374T>Gc.(1372-1374)agT>agGp.S458R
COADREAD69699737096997370+Missense_MutationSNPCCTTCGA-AG-3580-01A-01W-0831-10TCGA-AG-3580-10A-01W-0831-10g.chr6:96997370C>Tc.1603C>Tc.(1603-1605)Cgc>Tgcp.R535C
COADREAD69699743196997431+Missense_MutationSNPAAGTCGA-CM-4744-01A-01D-1408-10TCGA-CM-4744-10A-01D-1408-10g.chr6:96997431A>Gc.1664A>Gc.(1663-1665)gAa>gGap.E555G
COADREAD69699764396997643+Missense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr6:96997643G>Ac.1786G>Ac.(1786-1788)Gca>Acap.A596T
COADREAD69700134697001346+SilentSNPCCGTCGA-CA-6716-01A-11D-1835-10TCGA-CA-6716-10A-01D-1835-10g.chr6:97001346C>Gc.2352C>Gc.(2350-2352)ctC>ctGp.L784L
DLBC69698531196985311+SilentSNPTTCTCGA-G8-6326-01A-11D-2210-10TCGA-G8-6326-10A-01D-2210-10g.chr6:96985311T>Cc.864T>Cc.(862-864)taT>taCp.Y288Y
ESCA69698651296986512+SilentSNPGGATCGA-XP-A8T6-01A-11D-A36J-09TCGA-XP-A8T6-10A-01D-A36M-09g.chr6:96986512G>Ac.984G>Ac.(982-984)ctG>ctAp.L328L
ESCA69699740596997405+Missense_MutationSNPCCGTCGA-2H-A9GH-01A-11D-A37C-09TCGA-2H-A9GH-11A-11D-A37F-09g.chr6:96997405C>Gc.1638C>Gc.(1636-1638)aaC>aaGp.N546K
ESCA69700121497001214+SilentSNPCCGTCGA-LN-A7HX-01A-11D-A33E-09TCGA-LN-A7HX-10A-01D-A33H-09g.chr6:97001214C>Gc.2220C>Gc.(2218-2220)gtC>gtGp.V740V
HNSC69696979196969791+Missense_MutationSNPCCATCGA-CV-A6JE-01A-11D-A31L-08TCGA-CV-A6JE-10A-01D-A31J-08g.chr6:96969791C>Ac.42C>Ac.(40-42)gaC>gaAp.D14E
HNSC69697105996971059+SilentSNPTTCTCGA-IQ-7632-01A-11D-2078-08TCGA-IQ-7632-10A-01D-2078-08g.chr6:96971059T>Cc.115T>Cc.(115-117)Ttg>Ctgp.L39L
HNSC69697109296971092+Missense_MutationSNPAAGTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr6:96971092A>Gc.148A>Gc.(148-150)Aca>Gcap.T50A
HNSC69697113196971131+Missense_MutationSNPAAGTCGA-BA-A8YP-01A-11D-A391-08TCGA-BA-A8YP-10A-01D-A394-08g.chr6:96971131A>Gc.187A>Gc.(187-189)Agt>Ggtp.S63G
HNSC69698215696982156+Missense_MutationSNPCCTTCGA-CV-A460-01A-21D-A25D-08TCGA-CV-A460-10A-01D-A25E-08g.chr6:96982156C>Tc.614C>Tc.(613-615)tCt>tTtp.S205F
HNSC69698425396984253+SilentSNPGGATCGA-BA-A6DE-01A-22D-A31L-08TCGA-BA-A6DE-10A-01D-A31J-08g.chr6:96984253G>Ac.789G>Ac.(787-789)caG>caAp.Q263Q
HNSC69698541796985417+Missense_MutationSNPGGATCGA-MT-A67F-01A-11D-A30E-08TCGA-MT-A67F-10A-01D-A30H-08g.chr6:96985417G>Ac.970G>Ac.(970-972)Gat>Aatp.D324N
HNSC69699081296990812+Missense_MutationSNPGGATCGA-CR-5243-01A-01D-1512-08TCGA-CR-5243-10A-01D-1512-08g.chr6:96990812G>Ac.1322G>Ac.(1321-1323)aGa>aAap.R441K
HNSC69699613496996134+SilentSNPGGATCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr6:96996134G>Ac.1497G>Ac.(1495-1497)tcG>tcAp.S499S
HNSC69699742496997424+SilentSNPTTCTCGA-CV-A6K1-01A-11D-A31L-08TCGA-CV-A6K1-10A-01D-A31J-08g.chr6:96997424T>Cc.1657T>Cc.(1657-1659)Tta>Ctap.L553L
HNSC69700046697000466+SilentSNPCCGTCGA-CQ-5333-01A-01D-2394-08TCGA-CQ-5333-10A-01D-2394-08g.chr6:97000466C>Gc.2094C>Gc.(2092-2094)acC>acGp.T698T
KIPAN69699610296996102+Frame_Shift_DelDELCC-TCGA-A4-8098-01A-11D-2396-08TCGA-A4-8098-10A-01D-2396-08g.chr6:96996102delCc.1465delCc.(1465-1467)cacfsp.H489fs
KIPAN69699745396997453+Splice_SiteSNPAAGTCGA-B0-5120-01A-01D-1421-08TCGA-B0-5120-11A-01D-1421-08g.chr6:96997453A>Gc.1686A>Gc.(1684-1686)gcA>gcGp.A562A
KIRC69699745396997453+Splice_SiteSNPAAGTCGA-B0-5120-01A-01D-1421-08TCGA-B0-5120-11A-01D-1421-08g.chr6:96997453A>Gc.1686A>Gc.(1684-1686)gcA>gcGp.A562A
KIRP69699610296996102+Frame_Shift_DelDELCC-TCGA-A4-8098-01A-11D-2396-08TCGA-A4-8098-10A-01D-2396-08g.chr6:96996102delCc.1465delCc.(1465-1467)cacfsp.H489fs
LIHC69699079996990799+Frame_Shift_DelDELGG-TCGA-DD-A1EG-01A-11D-A20W-10TCGA-DD-A1EG-10A-01D-A20W-10g.chr6:96990799delGc.1309delGc.(1309-1311)gggfsp.G438fs
LIHC69699739196997391+Missense_MutationSNPGGATCGA-FV-A496-01A-11D-A25V-10TCGA-FV-A496-10A-01D-A25V-10g.chr6:96997391G>Ac.1624G>Ac.(1624-1626)Gaa>Aaap.E542K
LUAD69697321596973215+Missense_MutationSNPGGATCGA-35-4123-01A-01D-1105-08TCGA-35-4123-10A-01D-1105-08g.chr6:96973215G>Ac.295G>Ac.(295-297)Gac>Aacp.D99N
LUAD69698529796985297+Missense_MutationSNPAAGTCGA-55-8208-01A-11D-2238-08TCGA-55-8208-10A-01D-2238-08g.chr6:96985297A>Gc.850A>Gc.(850-852)Ata>Gtap.I284V
LUAD69698841096988410+Splice_SiteSNPGGCTCGA-91-6848-01A-11D-1945-08TCGA-91-6848-11A-01D-1945-08g.chr6:96988410G>Cc.e11-1
LUAD69699086596990865+Missense_MutationSNPGGCTCGA-50-5930-01A-11D-1753-08TCGA-50-5930-11A-01D-1753-08g.chr6:96990865G>Cc.1375G>Cc.(1375-1377)Gat>Catp.D459H
LUAD69699738196997381+Missense_MutationSNPGGTTCGA-86-8585-01A-11D-2393-08TCGA-86-8585-10A-01D-2393-08g.chr6:96997381G>Tc.1614G>Tc.(1612-1614)aaG>aaTp.K538N
LUAD69699763096997630+SilentSNPGGTTCGA-67-3771-01A-01D-1040-01TCGA-67-3771-10A-01D-1040-01g.chr6:96997630G>Tc.1773G>Tc.(1771-1773)tcG>tcTp.S591S
LUAD69699763196997631+Missense_MutationSNPGGTTCGA-67-3771-01A-01D-1040-01TCGA-67-3771-10A-01D-1040-01g.chr6:96997631G>Tc.1774G>Tc.(1774-1776)Gat>Tatp.D592Y
LUAD69699933696999336+Missense_MutationSNPTTATCGA-55-1592-01A-01D-0969-08TCGA-55-1592-11A-01D-0969-08g.chr6:96999336T>Ac.1846T>Ac.(1846-1848)Tca>Acap.S616T
LUAD69700050197000501+Missense_MutationSNPCCTTCGA-17-Z050-01A-01W-0747-08TCGA-17-Z050-11A-01W-0747-08g.chr6:97000501C>Tc.2129C>Tc.(2128-2130)cCa>cTap.P710L
LUSC69697324896973248+Missense_MutationSNPGGATCGA-22-5473-01A-01D-1632-08TCGA-22-5473-11A-11D-1632-08g.chr6:96973248G>Ac.328G>Ac.(328-330)Gtg>Atgp.V110M
LUSC69698416696984166+SilentSNPGGTTCGA-18-3411-01A-01D-0983-08TCGA-18-3411-11A-01D-0983-08g.chr6:96984166G>Tc.702G>Tc.(700-702)gtG>gtTp.V234V
LUSC69698657696986576+Missense_MutationSNPAATTCGA-43-2578-01A-01D-1522-08TCGA-43-2578-11A-01D-1522-08g.chr6:96986576A>Tc.1048A>Tc.(1048-1050)Agc>Tgcp.S350C
LUSC69700137497001374+Nonsense_MutationSNPGGTTCGA-56-6546-01A-11D-1817-08TCGA-56-6546-10A-01D-1817-08g.chr6:97001374G>Tc.2380G>Tc.(2380-2382)Gag>Tagp.E794*
OV69698849196988491+SilentSNPTTCTCGA-13-0751-01A-01D-0446-08TCGA-13-0751-10A-01D-0446-08g.chr6:96988491T>Cc.1239T>Cc.(1237-1239)agT>agCp.S413S
PRAD69697430996974309+Missense_MutationSNPCCGTCGA-EJ-5516-01A-01D-1576-08TCGA-EJ-5516-10A-01D-1577-08g.chr6:96974309C>Gc.463C>Gc.(463-465)Cag>Gagp.Q155E
PRAD69698847996988479+SilentSNPCCTTCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr6:96988479C>Tc.1227C>Tc.(1225-1227)agC>agTp.S409S
PRAD69698852396988523+Missense_MutationSNPAAGTCGA-EJ-7792-01A-11D-2114-08TCGA-EJ-7792-10A-01D-2115-08g.chr6:96988523A>Gc.1271A>Gc.(1270-1272)aAa>aGap.K424R
PRAD69699086596990865+Missense_MutationSNPGGATCGA-KK-A8IM-01A-11D-A364-08TCGA-KK-A8IM-11A-11D-A362-08g.chr6:96990865G>Ac.1375G>Ac.(1375-1377)Gat>Aatp.D459N
PRAD69699978696999786+Frame_Shift_DelDELAA-TCGA-J9-A52C-01A-11D-A26M-08TCGA-J9-A52C-10A-01D-A26K-08g.chr6:96999786delAc.1972delAc.(1972-1974)aaafsp.K659fs
PRAD69700041097000410+Missense_MutationSNPGGATCGA-J4-AAU2-01A-11D-A41K-08TCGA-J4-AAU2-10A-01D-A41N-08g.chr6:97000410G>Ac.2038G>Ac.(2038-2040)Gaa>Aaap.E680K
PRAD69700042697000426+Missense_MutationSNPTTCTCGA-ZG-A9N3-01A-11D-A41K-08TCGA-ZG-A9N3-10A-01D-A41N-08g.chr6:97000426T>Cc.2054T>Cc.(2053-2055)aTt>aCtp.I685T
READ69697320796973207+Missense_MutationSNPGGTTCGA-AG-3892-01A-01W-1073-09TCGA-AG-3892-10A-01W-1073-09g.chr6:96973207G>Tc.287G>Tc.(286-288)aGa>aTap.R96I
READ69698848996988489+Missense_MutationSNPAAGTCGA-DY-A1DD-01A-21D-A152-10TCGA-DY-A1DD-10A-01D-A152-10g.chr6:96988489A>Gc.1237A>Gc.(1237-1239)Agt>Ggtp.S413G
READ69699086496990864+Missense_MutationSNPTTGTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr6:96990864T>Gc.1374T>Gc.(1372-1374)agT>agGp.S458R
READ69699737096997370+Missense_MutationSNPCCTTCGA-AG-3580-01A-01W-0831-10TCGA-AG-3580-10A-01W-0831-10g.chr6:96997370C>Tc.1603C>Tc.(1603-1605)Cgc>Tgcp.R535C
READ69699764396997643+Missense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr6:96997643G>Ac.1786G>Ac.(1786-1788)Gca>Acap.A596T
SKCM69699936996999369+Missense_MutationSNPCCTTCGA-EE-A29D-06A-11D-A197-08TCGA-EE-A29D-10A-01D-A199-08g.chr6:96999369C>Tc.1879C>Tc.(1879-1881)Cat>Tatp.H627Y
SKCM69700052297000522+Missense_MutationSNPAATTCGA-EE-A29D-06A-11D-A197-08TCGA-EE-A29D-10A-01D-A199-08g.chr6:97000522A>Tc.2150A>Tc.(2149-2151)aAt>aTtp.N717I
SKCM69700132797001327+Missense_MutationSNPCCTTCGA-EE-A2MS-06A-11D-A197-08TCGA-EE-A2MS-10A-01D-A199-08g.chr6:97001327C>Tc.2333C>Tc.(2332-2334)tCc>tTcp.S778F
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN69697428896974288single base substitutionCTdownstream_gene_variant
BLCA-CN69697428896974288single base substitutionCTmissense_variantL148F442C>T
BLCA-US69699087196990871single base substitutionGAmissense_variantE461K1381G>A
BLCA-US69700045597000455single base substitutionCAmissense_variantQ695K2083C>A
BOCA-FR69699283596992835single base substitutionTCintron_variant
BRCA-EU69696505096965050single base substitutionCAupstream_gene_variant
BRCA-EU69696518096965180single base substitutionCTupstream_gene_variant
BRCA-EU69696541096965410single base substitutionTAupstream_gene_variant
BRCA-EU69696559996965599single base substitutionGTupstream_gene_variant
BRCA-EU69696597096965970single base substitutionGTupstream_gene_variant
BRCA-EU69696624396966243single base substitutionTAupstream_gene_variant
BRCA-EU69696737896967378single base substitutionCTupstream_gene_variant
BRCA-EU69696786496967864single base substitutionGCupstream_gene_variant
BRCA-EU69696788396967883single base substitutionCGupstream_gene_variant
BRCA-EU69696832696968326single base substitutionCTupstream_gene_variant
BRCA-EU69696894496968944single base substitutionAGupstream_gene_variant
BRCA-EU69696914296969142single base substitutionCAupstream_gene_variant
BRCA-EU69696974996969749single base substitutionGC5_prime_UTR_variant
BRCA-EU69696974996969749single base substitutionGCexon_variant
BRCA-EU69697082996970829single base substitutionTCexon_variant
BRCA-EU69697082996970829single base substitutionTCintron_variant
BRCA-EU69697103296971032single base substitutionCTdownstream_gene_variant
BRCA-EU69697103296971032single base substitutionCTmissense_variantR30W88C>T
BRCA-EU69697116596971165single base substitutionGAdownstream_gene_variant
BRCA-EU69697116596971165single base substitutionGAmissense_variantG74D221G>A
BRCA-EU69697212896972128single base substitutionAGdownstream_gene_variant
BRCA-EU69697212896972128single base substitutionAGintron_variant
BRCA-EU69697259696972597deletion of <=200bpAG-downstream_gene_variant
BRCA-EU69697259696972597deletion of <=200bpAG-intron_variant
BRCA-EU69697275396972753single base substitutionCTdownstream_gene_variant
BRCA-EU69697275396972753single base substitutionCTintron_variant
BRCA-EU69697441596974415single base substitutionTCdownstream_gene_variant
BRCA-EU69697441596974415single base substitutionTCintron_variant
BRCA-EU69697493296974932single base substitutionGAdownstream_gene_variant
BRCA-EU69697493296974932single base substitutionGAintron_variant
BRCA-EU69697500996975009deletion of <=200bpT-downstream_gene_variant
BRCA-EU69697500996975009deletion of <=200bpT-intron_variant
BRCA-EU69697501096975010single base substitutionTGdownstream_gene_variant
BRCA-EU69697501096975010single base substitutionTGintron_variant
BRCA-EU69697529796975297single base substitutionAGdownstream_gene_variant
BRCA-EU69697529796975297single base substitutionAGintron_variant
BRCA-EU69697532596975325single base substitutionGAdownstream_gene_variant
BRCA-EU69697532596975325single base substitutionGAintron_variant
BRCA-EU69697620496976204single base substitutionGTintron_variant
BRCA-EU69697656396976563deletion of <=200bpT-intron_variant
BRCA-EU69697763496977634single base substitutionCGintron_variant
BRCA-EU69697776696977766deletion of <=200bpT-intron_variant
BRCA-EU69698024096980240single base substitutionCGintron_variant
BRCA-EU69698108396981083single base substitutionTAintron_variant
BRCA-EU69698217196982171single base substitutionATmissense_variantY210F629A>T
BRCA-EU69698362096983620single base substitutionAGintron_variant
BRCA-EU69698532696985326single base substitutionCGsynonymous_variantL293L879C>G
BRCA-EU69698539096985390single base substitutionGAmissense_variantE315K943G>A
BRCA-EU69698539896985398single base substitutionCGmissense_variantI317M951C>G
BRCA-EU69698543096985430single base substitutionGTsplice_region_variant
BRCA-EU69698571996985719single base substitutionCTintron_variant
BRCA-EU69698581196985811single base substitutionGAintron_variant
BRCA-EU69698738396987383single base substitutionGCintron_variant
BRCA-EU69698790196987901single base substitutionAGintron_variant
BRCA-EU69698940696989406single base substitutionAGintron_variant
BRCA-EU69698974496989744single base substitutionTCintron_variant
BRCA-EU69699057896990578single base substitutionAGintron_variant
BRCA-EU69699123696991236single base substitutionATintron_variant
BRCA-EU69699318996993189deletion of <=200bpT-intron_variant
BRCA-EU69699409596994095single base substitutionCTintron_variant
BRCA-EU69699568596995685deletion of <=200bpG-intron_variant
BRCA-EU69699568596995685insertion of <=200bp-Gintron_variant
BRCA-EU69699725096997250single base substitutionAGintron_variant
BRCA-EU69699763996997639single base substitutionGCmissense_variantM594I1782G>C
BRCA-EU69699770496997704single base substitutionGCintron_variant
BRCA-EU69699878096998780single base substitutionGAintron_variant
BRCA-EU69699928996999289single base substitutionATintron_variant
BRCA-EU69699978696999786deletion of <=200bpA-frameshift_variantK658
BRCA-EU69700277197002771single base substitutionGA3_prime_UTR_variant
BRCA-EU69700323197003231single base substitutionTAdownstream_gene_variant
BRCA-EU69700372497003724single base substitutionGAdownstream_gene_variant
BRCA-EU69700407297004072single base substitutionGAdownstream_gene_variant
BRCA-EU69700709497007094deletion of <=200bpA-downstream_gene_variant
BRCA-EU69700809897008098single base substitutionGCdownstream_gene_variant
BRCA-FR69696559996965599single base substitutionGTupstream_gene_variant
BRCA-FR69696737896967378single base substitutionCTupstream_gene_variant
BRCA-FR69696786496967864single base substitutionGCupstream_gene_variant
BRCA-FR69696982496969824single base substitutionGAsplice_region_variant
BRCA-FR69698539096985390single base substitutionGAmissense_variantE315K943G>A
BRCA-FR69699057896990578single base substitutionAGintron_variant
BRCA-FR69699409596994095single base substitutionCTintron_variant
BRCA-FR69699770496997704single base substitutionGCintron_variant
BRCA-FR69700372497003724single base substitutionGAdownstream_gene_variant
BRCA-UK69696541096965410single base substitutionTAupstream_gene_variant
BRCA-UK69698940696989406single base substitutionAGintron_variant
BRCA-UK69700343197003431single base substitutionGAdownstream_gene_variant
BRCA-US69697116896971168single base substitutionGAdownstream_gene_variant
BRCA-US69697116896971168single base substitutionGAsplice_donor_variant
BRCA-US69699079996990799single base substitutionGAmissense_variantG437R1309G>A
BRCA-US69699729296997292single base substitutionCGmissense_variantL509V1525C>G
BRCA-US69699737696997376single base substitutionAGmissense_variantI537V1609A>G
BRCA-US69699937496999374single base substitutionCGmissense_variantN628K1884C>G
BRCA-US69700122697001226single base substitutionGCmissense_variantK744N2232G>C
BRCA-US69700136997001369single base substitutionCTmissense_variantT792M2375C>T
BTCA-JP69697415196974151single base substitutionAGdownstream_gene_variant
BTCA-JP69697415196974151single base substitutionAGintron_variant
BTCA-JP69697431596974315deletion of <=200bpT-downstream_gene_variant
BTCA-JP69697431596974315deletion of <=200bpT-splice_region_variant
BTCA-JP69697438696974386deletion of <=200bpA-downstream_gene_variant
BTCA-JP69697438696974386deletion of <=200bpA-intron_variant
BTCA-JP69699719496997194single base substitutionACintron_variant
BTCA-JP69699729496997294single base substitutionTGsynonymous_variantL509L1527T>G
BTCA-JP69699744596997445deletion of <=200bpT-frameshift_variantF560
BTCA-JP69699972596999725single base substitutionCTsynonymous_variantD637D1911C>T
CESC-US69697106196971061single base substitutionGAdownstream_gene_variant
CESC-US69697106196971061single base substitutionGAsynonymous_variantL39L117G>A
CESC-US69698851396988513single base substitutionCTstop_gainedR421*1261C>T
CESC-US69699614496996144single base substitutionGCmissense_variantE503Q1507G>C
CLLE-ES69696941596969416multiple base substitution (>=2bp and <=200bp)TTAAupstream_gene_variant
CLLE-ES69696957696969576single base substitutionTCexon_variant
CLLE-ES69696957696969576single base substitutionTCupstream_gene_variant
CLLE-ES69697166596971665single base substitutionTCdownstream_gene_variant
CLLE-ES69697166596971665single base substitutionTCintron_variant
COAD-US69699743196997431single base substitutionAGmissense_variantE555G1664A>G
COAD-US69700134697001346single base substitutionCGsynonymous_variantL784L2352C>G
COCA-CN69696983396969833single base substitutionGAintron_variant
COCA-CN69697436496974364single base substitutionGAdownstream_gene_variant
COCA-CN69697436496974364single base substitutionGAintron_variant
COCA-CN69697438796974387single base substitutionAGdownstream_gene_variant
COCA-CN69697438796974387single base substitutionAGintron_variant
COCA-CN69697438896974388single base substitutionAGdownstream_gene_variant
COCA-CN69697438896974388single base substitutionAGintron_variant
COCA-CN69698214496982144single base substitutionCTmissense_variantT201I602C>T
COCA-CN69698501396985013single base substitutionTCintron_variant
COCA-CN69698649296986492single base substitutionTGintron_variant
COCA-CN69699683396996833single base substitutionGAintron_variant
COCA-CN69699725596997255single base substitutionTGintron_variant
COCA-CN69700028897000288single base substitutionGTintron_variant
ESAD-UK69696577396965773single base substitutionTCupstream_gene_variant
ESAD-UK69696703496967034single base substitutionGCupstream_gene_variant
ESAD-UK69696719396967193single base substitutionTCupstream_gene_variant
ESAD-UK69696740996967409insertion of <=200bp-Tupstream_gene_variant
ESAD-UK69696799196967991single base substitutionCAupstream_gene_variant
ESAD-UK69696829796968297single base substitutionTAupstream_gene_variant
ESAD-UK69696873496968734single base substitutionCTupstream_gene_variant
ESAD-UK69697003696970036single base substitutionCTintron_variant
ESAD-UK69697034196970341single base substitutionAGintron_variant
ESAD-UK69697066696970666single base substitutionGAintron_variant
ESAD-UK69697072196970721single base substitutionCTintron_variant
ESAD-UK69697106396971063deletion of <=200bpT-downstream_gene_variant
ESAD-UK69697106396971063deletion of <=200bpT-frameshift_variantI40
ESAD-UK69697203896972038single base substitutionTAdownstream_gene_variant
ESAD-UK69697203896972038single base substitutionTAintron_variant
ESAD-UK69697392596973925single base substitutionGTdownstream_gene_variant
ESAD-UK69697392596973925single base substitutionGTintron_variant
ESAD-UK69697438896974388single base substitutionAGdownstream_gene_variant
ESAD-UK69697438896974388single base substitutionAGintron_variant
ESAD-UK69697460896974608single base substitutionGAdownstream_gene_variant
ESAD-UK69697460896974608single base substitutionGAintron_variant
ESAD-UK69697464796974647deletion of <=200bpA-downstream_gene_variant
ESAD-UK69697464796974647deletion of <=200bpA-intron_variant
ESAD-UK69697519096975190single base substitutionTCdownstream_gene_variant
ESAD-UK69697519096975190single base substitutionTCintron_variant
ESAD-UK69697633096976330single base substitutionGAintron_variant
ESAD-UK69697755296977552single base substitutionATintron_variant
ESAD-UK69697803396978033single base substitutionCGintron_variant
ESAD-UK69697804396978043single base substitutionCGintron_variant
ESAD-UK69697847596978475single base substitutionTAintron_variant
ESAD-UK69697904296979042single base substitutionTCintron_variant
ESAD-UK69698003896980038single base substitutionCGintron_variant
ESAD-UK69698149496981494single base substitutionATintron_variant
ESAD-UK69698207796982077single base substitutionGTintron_variant
ESAD-UK69698550596985505single base substitutionGAintron_variant
ESAD-UK69698559396985593deletion of <=200bpC-intron_variant
ESAD-UK69698605296986052single base substitutionGAintron_variant
ESAD-UK69698642996986429single base substitutionGTintron_variant
ESAD-UK69698879496988794single base substitutionAGintron_variant
ESAD-UK69699010496990104insertion of <=200bp-Tintron_variant
ESAD-UK69699199996991999single base substitutionGAintron_variant
ESAD-UK69699241496992414single base substitutionCTintron_variant
ESAD-UK69699494996994949single base substitutionAGintron_variant
ESAD-UK69699512696995126single base substitutionGCintron_variant
ESAD-UK69699744696997446single base substitutionTCmissense_variantF560S1679T>C
ESAD-UK69700020797000207single base substitutionGTintron_variant
ESAD-UK69700299297002992single base substitutionCA3_prime_UTR_variant
ESAD-UK69700406797004067single base substitutionCTdownstream_gene_variant
ESAD-UK69700491797004917single base substitutionCTdownstream_gene_variant
ESAD-UK69700510197005101single base substitutionCTdownstream_gene_variant
ESAD-UK69700624597006245single base substitutionGAdownstream_gene_variant
ESCA-CN69697109796971097single base substitutionCGdownstream_gene_variant
ESCA-CN69697109796971097single base substitutionCGsynonymous_variantL51L153C>G
ESCA-CN69697322796973227single base substitutionTGdownstream_gene_variant
ESCA-CN69697322796973227single base substitutionTGmissense_variantS103A307T>G
ESCA-CN69699083796990837single base substitutionGCmissense_variantK449N1347G>C
GACA-CN69700135397001353single base substitutionAGmissense_variantR787G2359A>G
KIRC-US69699745396997453single base substitutionAGsplice_region_variant
KIRP-US69699610296996102deletion of <=200bpC-frameshift_variantH489
LICA-CN69698426796984267single base substitutionGTsplice_donor_variant
LICA-FR69697383396973833single base substitutionGAdownstream_gene_variant
LICA-FR69697383396973833single base substitutionGAintron_variant
LICA-FR69698541496985414single base substitutionGAmissense_variantV323I967G>A
LICA-FR69699731396997313single base substitutionGAmissense_variantV516M1546G>A
LIHC-US69697320196973201single base substitutionATdownstream_gene_variant
LIHC-US69697320196973201single base substitutionATmissense_variantE94V281A>T
LIHC-US69698660596986605single base substitutionCTsynonymous_variantS359S1077C>T
LIHC-US69699739196997391single base substitutionGAmissense_variantE542K1624G>A
LINC-JP69696665696966656single base substitutionCTupstream_gene_variant
LINC-JP69697438696974386deletion of <=200bpA-downstream_gene_variant
LINC-JP69697438696974386deletion of <=200bpA-intron_variant
LINC-JP69697613196976131single base substitutionAGintron_variant
LINC-JP69698208796982087single base substitutionCTintron_variant
LINC-JP69698290296982902single base substitutionAGintron_variant
LINC-JP69698323396983233single base substitutionGTintron_variant
LINC-JP69698400996984009single base substitutionAGintron_variant
LINC-JP69698636096986360single base substitutionTCintron_variant
LINC-JP69699723796997237single base substitutionAGintron_variant
LINC-JP69699796396997963single base substitutionATintron_variant
LINC-JP69700280797002807single base substitutionAC3_prime_UTR_variant
LINC-JP69700486597004865single base substitutionAGdownstream_gene_variant
LIRI-JP69696846596968465single base substitutionTGupstream_gene_variant
LIRI-JP69696853996968539single base substitutionGTupstream_gene_variant
LIRI-JP69696885896968858single base substitutionGCupstream_gene_variant
LIRI-JP69697223096972230deletion of <=200bpA-downstream_gene_variant
LIRI-JP69697223096972230deletion of <=200bpA-intron_variant
LIRI-JP69697701996977019single base substitutionTCintron_variant
LIRI-JP69697802396978023single base substitutionATintron_variant
LIRI-JP69698052596980525single base substitutionAGintron_variant
LIRI-JP69698486496984864single base substitutionGAintron_variant
LIRI-JP69698554396985543single base substitutionATintron_variant
LIRI-JP69698607296986072single base substitutionATintron_variant
LIRI-JP69698755696987556single base substitutionAGintron_variant
LIRI-JP69698930296989302single base substitutionAGintron_variant
LIRI-JP69699219296992192single base substitutionATintron_variant
LIRI-JP69699353596993535single base substitutionATintron_variant
LIRI-JP69699443996994439single base substitutionTAintron_variant
LIRI-JP69699536196995361single base substitutionAGintron_variant
LIRI-JP69699656896996568single base substitutionATintron_variant
LIRI-JP69699714196997141single base substitutionTCintron_variant
LIRI-JP69699824496998244single base substitutionCTintron_variant
LIRI-JP69699911696999116single base substitutionCTintron_variant
LIRI-JP69699977896999778single base substitutionGAmissense_variantR655K1964G>A
LIRI-JP69700191697001916single base substitutionAG3_prime_UTR_variant
LIRI-JP69700280997002809single base substitutionAG3_prime_UTR_variant
LIRI-JP69700293997002939single base substitutionTC3_prime_UTR_variant
LIRI-JP69700716397007163single base substitutionGAdownstream_gene_variant
LIRI-JP69700813697008136single base substitutionAGdownstream_gene_variant
LUSC-KR69696515996965159single base substitutionGAupstream_gene_variant
LUSC-KR69696600596966005single base substitutionATupstream_gene_variant
LUSC-KR69696642496966424single base substitutionCAupstream_gene_variant
LUSC-KR69697116196971161single base substitutionCAdownstream_gene_variant
LUSC-KR69697116196971161single base substitutionCAsynonymous_variantR73R217C>A
LUSC-KR69697255696972556single base substitutionCAdownstream_gene_variant
LUSC-KR69697255696972556single base substitutionCAintron_variant
LUSC-KR69697336596973365single base substitutionCGdownstream_gene_variant
LUSC-KR69697336596973365single base substitutionCGintron_variant
LUSC-KR69697449596974495single base substitutionATdownstream_gene_variant
LUSC-KR69697449596974495single base substitutionATintron_variant
LUSC-KR69697598896975988single base substitutionGTintron_variant
LUSC-KR69698104896981048single base substitutionAGintron_variant
LUSC-KR69698677896986778single base substitutionGAintron_variant
LUSC-KR69698896196988961single base substitutionCTintron_variant
LUSC-KR69699682296996822single base substitutionAGintron_variant
LUSC-KR69700198697001986single base substitutionAT3_prime_UTR_variant
LUSC-KR69700233297002332single base substitutionAT3_prime_UTR_variant
LUSC-KR69700290697002906single base substitutionGC3_prime_UTR_variant
LUSC-KR69700707397007073single base substitutionACdownstream_gene_variant
LUSC-US69697324896973248single base substitutionGAdownstream_gene_variant
LUSC-US69697324896973248single base substitutionGAmissense_variantV110M328G>A
LUSC-US69698416696984166single base substitutionGTsynonymous_variantV234V702G>T
LUSC-US69698657696986576single base substitutionATmissense_variantS350C1048A>T
LUSC-US69700137497001374single base substitutionGTstop_gainedE794*2380G>T
MALY-DE69696575396965753single base substitutionTGupstream_gene_variant
MALY-DE69696596596965965single base substitutionACupstream_gene_variant
MALY-DE69696955996969578deletion of <=200bpAACCCCCAGCGCCGCGGTAC-exon_variant
MALY-DE69696955996969578deletion of <=200bpAACCCCCAGCGCCGCGGTAC-upstream_gene_variant
MALY-DE69697022996970229single base substitutionACintron_variant
MALY-DE69697438796974387single base substitutionAGdownstream_gene_variant
MALY-DE69697438796974387single base substitutionAGintron_variant
MALY-DE69697501096975010single base substitutionTGdownstream_gene_variant
MALY-DE69697501096975010single base substitutionTGintron_variant
MALY-DE69697568296975682single base substitutionAGdownstream_gene_variant
MALY-DE69697568296975682single base substitutionAGintron_variant
MALY-DE69697876796978767single base substitutionCTintron_variant
MALY-DE69698045496980454single base substitutionGCintron_variant
MALY-DE69698428896984288single base substitutionAGintron_variant
MALY-DE69698766796987667single base substitutionATintron_variant
MALY-DE69698962796989627single base substitutionAGintron_variant
MALY-DE69698963596989635single base substitutionGCintron_variant
MALY-DE69699187496991874single base substitutionTAintron_variant
MALY-DE69699737196997371single base substitutionGCmissense_variantR535P1604G>C
MALY-DE69700238197002381single base substitutionTA3_prime_UTR_variant
MALY-DE69700740397007403single base substitutionACdownstream_gene_variant
MELA-AU69696568996965689single base substitutionGAupstream_gene_variant
MELA-AU69696573496965734single base substitutionGAupstream_gene_variant
MELA-AU69696657796966577single base substitutionAGupstream_gene_variant
MELA-AU69696710696967106single base substitutionGAupstream_gene_variant
MELA-AU69696734896967348single base substitutionATupstream_gene_variant
MELA-AU69696755796967557single base substitutionCTupstream_gene_variant
MELA-AU69696874396968743single base substitutionGAupstream_gene_variant
MELA-AU69696918796969187single base substitutionTGupstream_gene_variant
MELA-AU69697016796970167single base substitutionTAintron_variant
MELA-AU69697021696970216single base substitutionATintron_variant
MELA-AU69697070496970704single base substitutionCTintron_variant
MELA-AU69697073196970731single base substitutionCTintron_variant
MELA-AU69697251596972515single base substitutionGAdownstream_gene_variant
MELA-AU69697251596972515single base substitutionGAintron_variant
MELA-AU69697445296974452single base substitutionAGdownstream_gene_variant
MELA-AU69697445296974452single base substitutionAGintron_variant
MELA-AU69697648396976483single base substitutionCTmissense_variantR191C571C>T
MELA-AU69697762096977620single base substitutionCTintron_variant
MELA-AU69697829196978291single base substitutionCTintron_variant
MELA-AU69697960896979608single base substitutionTAintron_variant
MELA-AU69697962596979625single base substitutionTAintron_variant
MELA-AU69697964496979644single base substitutionCTintron_variant
MELA-AU69698055896980558single base substitutionCTintron_variant
MELA-AU69698096696980966single base substitutionATintron_variant
MELA-AU69698126096981260single base substitutionATintron_variant
MELA-AU69698126296981262single base substitutionTAintron_variant
MELA-AU69698183796981837single base substitutionCTintron_variant
MELA-AU69698208996982089single base substitutionACintron_variant
MELA-AU69698223196982231single base substitutionGAintron_variant
MELA-AU69698228096982280single base substitutionCTintron_variant
MELA-AU69698247196982471single base substitutionAGintron_variant
MELA-AU69698259096982590single base substitutionGAintron_variant
MELA-AU69698275096982750single base substitutionAGintron_variant
MELA-AU69698332396983323single base substitutionCTintron_variant
MELA-AU69698392096983920single base substitutionCTintron_variant
MELA-AU69698522796985227single base substitutionCTintron_variant
MELA-AU69698527896985278single base substitutionCTsynonymous_variantI277I831C>T
MELA-AU69698535196985351single base substitutionGAmissense_variantG302S904G>A
MELA-AU69698590196985901single base substitutionCTintron_variant
MELA-AU69698604596986045single base substitutionACintron_variant
MELA-AU69698604796986047single base substitutionTAintron_variant
MELA-AU69698641796986417single base substitutionCTintron_variant
MELA-AU69698784996987849single base substitutionCTintron_variant
MELA-AU69698853796988537single base substitutionAGsplice_region_variant
MELA-AU69698996896989968single base substitutionTAintron_variant
MELA-AU69699013996990139single base substitutionTAintron_variant
MELA-AU69699182296991822single base substitutionCTintron_variant
MELA-AU69699190296991902single base substitutionCTintron_variant
MELA-AU69699279596992795single base substitutionCTintron_variant
MELA-AU69699468996994689single base substitutionCTintron_variant
MELA-AU69699476496994764single base substitutionCTintron_variant
MELA-AU69699536696995366single base substitutionAGintron_variant
MELA-AU69699638896996388single base substitutionGAintron_variant
MELA-AU69699741396997413single base substitutionATmissense_variantN549I1646A>T
MELA-AU69699796196997961single base substitutionCTintron_variant
MELA-AU69699827896998278single base substitutionCTintron_variant
MELA-AU69699860596998605single base substitutionCTintron_variant
MELA-AU69699896296998962single base substitutionACintron_variant
MELA-AU69699924696999246single base substitutionTAintron_variant
MELA-AU69699944596999445single base substitutionCTintron_variant
MELA-AU69699948296999482single base substitutionCTintron_variant
MELA-AU69699966596999665single base substitutionTCintron_variant
MELA-AU69699983596999835single base substitutionTAintron_variant
MELA-AU69700066897000668single base substitutionTCintron_variant
MELA-AU69700073497000734single base substitutionCTintron_variant
MELA-AU69700088597000885single base substitutionCTintron_variant
MELA-AU69700127897001278single base substitutionGAmissense_variantE762K2284G>A
MELA-AU69700132497001324single base substitutionCTmissense_variantS777L2330C>T
MELA-AU69700136097001360single base substitutionCTmissense_variantS789L2366C>T
MELA-AU69700268897002688single base substitutionCT3_prime_UTR_variant
MELA-AU69700276197002761single base substitutionCT3_prime_UTR_variant
MELA-AU69700283897002838single base substitutionCT3_prime_UTR_variant
MELA-AU69700378197003781single base substitutionCTdownstream_gene_variant
MELA-AU69700411197004111single base substitutionGAdownstream_gene_variant
MELA-AU69700420597004205single base substitutionCTdownstream_gene_variant
MELA-AU69700427897004278single base substitutionCAdownstream_gene_variant
MELA-AU69700427897004278single base substitutionCTdownstream_gene_variant
MELA-AU69700459097004590single base substitutionCTdownstream_gene_variant
MELA-AU69700539597005395single base substitutionCTdownstream_gene_variant
MELA-AU69700545797005457single base substitutionCTdownstream_gene_variant
MELA-AU69700556397005563single base substitutionCTdownstream_gene_variant
MELA-AU69700562297005622single base substitutionCTdownstream_gene_variant
MELA-AU69700637197006371single base substitutionGTdownstream_gene_variant
MELA-AU69700697197006971single base substitutionGAdownstream_gene_variant
MELA-AU69700702897007028single base substitutionCTdownstream_gene_variant
MELA-AU69700706697007067multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU69700716097007160single base substitutionCTdownstream_gene_variant
MELA-AU69700724197007241single base substitutionGAdownstream_gene_variant
MELA-AU69700755397007553single base substitutionCGdownstream_gene_variant
MELA-AU69700768497007684single base substitutionGAdownstream_gene_variant
MELA-AU69700781297007812single base substitutionCAdownstream_gene_variant
MELA-AU69700783297007832single base substitutionCTdownstream_gene_variant
MELA-AU69700805697008056single base substitutionCTdownstream_gene_variant
ORCA-IN69698511996985119single base substitutionGAintron_variant
ORCA-IN69699575596995755single base substitutionGAintron_variant
ORCA-IN69700121897001218single base substitutionCTstop_gainedQ742*2224C>T
OV-AU69696474396964743single base substitutionGAupstream_gene_variant
OV-AU69698035596980355single base substitutionGCintron_variant
OV-AU69698149996981499single base substitutionAGintron_variant
OV-AU69698335396983353single base substitutionTCintron_variant
OV-AU69698339796983397single base substitutionCGintron_variant
OV-AU69698759296987592single base substitutionAGintron_variant
PACA-AU69696770996967709single base substitutionACupstream_gene_variant
PACA-AU69697438796974387single base substitutionAGdownstream_gene_variant
PACA-AU69697438796974387single base substitutionAGintron_variant
PACA-AU69697568296975682deletion of <=200bpA-downstream_gene_variant
PACA-AU69697568296975682deletion of <=200bpA-intron_variant
PACA-AU69697657096976570single base substitutionCTintron_variant
PACA-AU69697745096977450single base substitutionTAintron_variant
PACA-AU69698285096982850single base substitutionTCintron_variant
PACA-AU69698618796986187single base substitutionCTintron_variant
PACA-AU69699012296990150deletion of <=200bpCAATAGGTAATAATACTTTTATACTTAAC-intron_variant
PACA-AU69700799797007997single base substitutionCTdownstream_gene_variant
PACA-CA69696527096965270single base substitutionTAupstream_gene_variant
PACA-CA69696731996967319single base substitutionCTupstream_gene_variant
PACA-CA69696732196967321single base substitutionCGupstream_gene_variant
PACA-CA69696792996967929single base substitutionTAupstream_gene_variant
PACA-CA69696828796968287single base substitutionCTupstream_gene_variant
PACA-CA69696972196969721single base substitutionCA5_prime_UTR_variant
PACA-CA69696972196969721single base substitutionCAexon_variant
PACA-CA69697316096973160single base substitutionATdownstream_gene_variant
PACA-CA69697316096973160single base substitutionATintron_variant
PACA-CA69697396896973968single base substitutionAGdownstream_gene_variant
PACA-CA69697396896973968single base substitutionAGintron_variant
PACA-CA69697803696978038deletion of <=200bpCTT-intron_variant
PACA-CA69698000996980009single base substitutionCTintron_variant
PACA-CA69698157396981573single base substitutionGAintron_variant
PACA-CA69698534196985355deletion of <=200bpAGCTTGTGTTGGTCA-inframe_deletionAACVGQ298A
PACA-CA69698592996985929single base substitutionTGintron_variant
PACA-CA69699279796992797single base substitutionAGintron_variant
PACA-CA69699671696996716single base substitutionTAintron_variant
PACA-CA69699970496999704single base substitutionGCintron_variant
PACA-CA69699977496999774single base substitutionAGmissense_variantK654E1960A>G
PACA-CA69699993396999933single base substitutionAGintron_variant
PACA-CA69699995596999955single base substitutionTAintron_variant
PACA-CA69700185597001855single base substitutionAG3_prime_UTR_variant
PACA-CA69700624597006245single base substitutionGAdownstream_gene_variant
PAEN-IT69698506396985063single base substitutionATintron_variant
PBCA-DE69697972296979722single base substitutionGAintron_variant
PBCA-DE69698818896988188single base substitutionCTintron_variant
PBCA-DE69698994596989945single base substitutionTAintron_variant
PBCA-DE69699275496992754single base substitutionATintron_variant
PBCA-DE69699972596999725single base substitutionCTsynonymous_variantD637D1911C>T
PRAD-CA69697451396974513single base substitutionGTdownstream_gene_variant
PRAD-CA69697451396974513single base substitutionGTintron_variant
PRAD-UK69697089196970891single base substitutionAGdownstream_gene_variant
PRAD-UK69697089196970891single base substitutionAGintron_variant
PRAD-US69697430996974309single base substitutionCGdownstream_gene_variant
PRAD-US69697430996974309single base substitutionCGmissense_variantQ155E463C>G
PRAD-US69698852396988523single base substitutionAGmissense_variantK424R1271A>G
PRAD-US69699978696999786deletion of <=200bpA-frameshift_variantK658
READ-US69699613396996133single base substitutionCTmissense_variantS499L1496C>T
RECA-EU69697197496971974single base substitutionACdownstream_gene_variant
RECA-EU69697197496971974single base substitutionACintron_variant
RECA-EU69697369596973695single base substitutionTGdownstream_gene_variant
RECA-EU69697369596973695single base substitutionTGintron_variant
RECA-EU69697883296978832single base substitutionGTintron_variant
RECA-EU69698246596982465single base substitutionAGintron_variant
RECA-EU69698369196983691single base substitutionTCintron_variant
RECA-EU69699670296996702single base substitutionTCintron_variant
RECA-EU69700079897000798single base substitutionTAintron_variant
RECA-EU69700106697001066single base substitutionACintron_variant
SKCA-BR69696639896966398single base substitutionACupstream_gene_variant
SKCA-BR69697003996970039single base substitutionACintron_variant
SKCA-BR69697096096970960single base substitutionACdownstream_gene_variant
SKCA-BR69697096096970960single base substitutionACintron_variant
SKCA-BR69697500796975007insertion of <=200bp-TGdownstream_gene_variant
SKCA-BR69697500796975007insertion of <=200bp-TGintron_variant
SKCA-BR69697631396976313single base substitutionTCintron_variant
SKCA-BR69698012796980127single base substitutionCTintron_variant
SKCA-BR69698251896982518single base substitutionTCintron_variant
SKCA-BR69699064296990642single base substitutionGTintron_variant
SKCA-BR69699154796991547single base substitutionCTintron_variant
SKCA-BR69699156796991567single base substitutionCTintron_variant
SKCA-BR69699190196991901single base substitutionTGintron_variant
SKCA-BR69699872996998729single base substitutionCTintron_variant
SKCA-BR69700415897004158single base substitutionCTdownstream_gene_variant
SKCA-BR69700545697005456single base substitutionCTdownstream_gene_variant
SKCA-BR69700592997005929single base substitutionGAdownstream_gene_variant
SKCM-US69699936996999369single base substitutionCTmissense_variantH627Y1879C>T
SKCM-US69700052297000522single base substitutionATmissense_variantN717I2150A>T
SKCM-US69700132797001327single base substitutionCTmissense_variantS778F2333C>T
STAD-US69697227096972270single base substitutionTCdownstream_gene_variant
STAD-US69697227096972270single base substitutionTCmissense_variantI79T236T>C
STAD-US69697425196974251single base substitutionTCdownstream_gene_variant
STAD-US69697425196974251single base substitutionTCsynonymous_variantG135G405T>C
STAD-US69697427596974275single base substitutionTCdownstream_gene_variant
STAD-US69697427596974275single base substitutionTCsynonymous_variantC143C429T>C
STAD-US69697650196976501single base substitutionAGmissense_variantI197V589A>G
STAD-US69698653696986536single base substitutionACmissense_variantE336D1008A>C
STAD-US69698665696986656deletion of <=200bpC-frameshift_variantF376
STAD-US69698665696986656single base substitutionCTsynonymous_variantF376F1128C>T
STAD-US69699608996996089deletion of <=200bpT-frameshift_variantD484
STAD-US69699763096997630single base substitutionGAsynonymous_variantS591S1773G>A
THCA-SA69698531196985311single base substitutionTCsynonymous_variantY288Y864T>C
THCA-SA69699972596999725single base substitutionCTsynonymous_variantD637D1911C>T
THCA-SA69700266197002661single base substitutionCA3_prime_UTR_variant
THCA-SA69700277697002776single base substitutionGT3_prime_UTR_variant
THCA-SA69700303497003034single base substitutionCT3_prime_UTR_variant
UCEC-US69697428896974288single base substitutionCTdownstream_gene_variant
UCEC-US69697428896974288single base substitutionCTmissense_variantL148F442C>T
UCEC-US69698530796985307single base substitutionGTmissense_variantR287I860G>T
UCEC-US69698650896986508single base substitutionCAmissense_variantP327H980C>A
UCEC-US69699085396990853single base substitutionGTmissense_variantD455Y1363G>T
UCEC-US69699608096996080single base substitutionGTmissense_variantE481D1443G>T
UCEC-US69699615696996156single base substitutionACmissense_variantK507Q1519A>C
UCEC-US69699735996997359single base substitutionCTmissense_variantT531M1592C>T
UCEC-US69699937696999376single base substitutionCAmissense_variantS629Y1886C>A
UCEC-US69699938096999380single base substitutionGTsynonymous_variantL630L1890G>T
UCEC-US69700052897000528single base substitutionACmissense_variantK719T2156A>C
UCEC-US69700130097001300single base substitutionGAmissense_variantR769H2306G>A
UCEC-US69700134497001344single base substitutionCAmissense_variantL784I2350C>A
UCEC-US69700136397001363single base substitutionCTmissense_variantS790F2369C>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
3N27-VS-3T27COSM4980293c.90G>Ap.R30RSubstitution - coding silent6:96523158-96523158+
TCGA-AP-A056-01COSM1082704c.1363G>Tp.D455YSubstitution - Missense6:96542977-96542977+
S02273COSM5682178c.2133G>Tp.Q711HSubstitution - Missense6:96552629-96552629+
TCGA-BG-A0MG-01COSM1082699c.455T>Gp.F152CSubstitution - Missense6:96526425-96526425+
CHC205TCOSM451949c.1911C>Tp.D637DSubstitution - coding silent6:96551849-96551849+
2217536COSM4421670c.2347G>Cp.V783LSubstitution - Missense6:96553465-96553465+
TCGA-E9-A22H-01COSM1488001c.1309G>Ap.G437RSubstitution - Missense6:96542923-96542923+
TCGA-AP-A056-01COSM1082706c.1519A>Cp.K507QSubstitution - Missense6:96548280-96548280+
ESCC_68COSM5634028c.661C>Gp.L221VSubstitution - Missense6:96536249-96536249+
S02289COSM5686221c.1329C>Ap.Y443*Substitution - Nonsense6:96542943-96542943+
587350COSM171793c.1603C>Tp.R535CSubstitution - Missense6:96549494-96549494+
HRA19COSM1488003c.2375C>Tp.T792MSubstitution - Missense6:96553493-96553493+
B81-1-TumorCOSM1082698c.442C>Tp.L148FSubstitution - Missense6:96526412-96526412+
TCGA-A5-A0GP-01COSM1082714c.2369C>Tp.S790FSubstitution - Missense6:96553487-96553487+
2492722COSM3630665c.1879C>Tp.H627YSubstitution - Missense6:96551493-96551493+
TCGA-EE-A2MS-06COSM3630667c.2333C>Tp.S778FSubstitution - Missense6:96553451-96553451+
CHC892TCOSM4794963c.1546G>Ap.V516MSubstitution - Missense6:96549437-96549437+
TCGA-DR-A0ZM-01COSM461727c.117G>Ap.L39LSubstitution - coding silent6:96523185-96523185+
CHC892TCOSM4960715c.967G>Ap.V323ISubstitution - Missense6:96537538-96537538+
3N25-VS-3T25COSM4980006c.2103G>Tp.M701ISubstitution - Missense6:96552599-96552599+
TCGA-AA-3715-01COSM269440c.501A>Gp.G167GSubstitution - coding silent6:96528537-96528537+
BRC26COSM5026602c.1470A>Gp.I490MSubstitution - Missense6:96548231-96548231+
PT34COSM5910544c.553C>Tp.R185*Substitution - Nonsense6:96528589-96528589+
HT115COSM3179010c.899G>Cp.C300SSubstitution - Missense6:96537470-96537470+
CSCC-60-TCOSM4501856c.599C>Tp.P200LSubstitution - Missense6:96534265-96534265+
TCGA-EE-A29D-06COSM3630666c.2150A>Tp.N717ISubstitution - Missense6:96552646-96552646+
TCGA-B5-A11E-01COSM1082709c.1886C>Ap.S629YSubstitution - Missense6:96551500-96551500+
TCGA-AR-A1AI-01COSM451950c.2232G>Cp.K744NSubstitution - Missense6:96553350-96553350+
RK181_C01COSM3745412c.1964G>Ap.R655KSubstitution - Missense6:96551902-96551902+
sysucc-1370TCOSM5472301c.602C>Tp.T201ISubstitution - Missense6:96534268-96534268+
TCGA-FV-A496-01COSM4939108c.1624G>Ap.E542KSubstitution - Missense6:96549515-96549515+
S02209COSM3179011c.931G>Ap.A311TSubstitution - Missense6:96537502-96537502+
Pat_76_ACOSM5871260c.2161C>Tp.P721SSubstitution - Missense6:96552657-96552657+
TCGA-FV-A3I0-01COSM4921762c.1077C>Tp.S359SSubstitution - coding silent6:96538729-96538729+
TCGA-B5-A0JR-01COSM1082708c.1772C>Tp.S591LSubstitution - Missense6:96549753-96549753+
TCGA-DS-A0VK-01COSM461726c.1261C>Tp.R421*Substitution - Nonsense6:96540637-96540637+
T96COSM4739031c.596G>Ap.R199QSubstitution - Missense6:96528632-96528632+
B81-1COSM1082698c.442C>Tp.L148FSubstitution - Missense6:96526412-96526412+
ESCC-015TCOSM3941886c.1347G>Cp.K449NSubstitution - Missense6:96542961-96542961+
GC9_TCOSM150140c.2359A>Gp.R787GSubstitution - Missense6:96553477-96553477+
TCGA-EE-A29D-06COSM3630665c.1879C>Tp.H627YSubstitution - Missense6:96551493-96551493+
TCGA-BR-6452-01COSM3876236c.1008A>Cp.E336DSubstitution - Missense6:96538660-96538660+
CSCC-62-TCOSM4455656c.850A>Tp.I284LSubstitution - Missense6:96537421-96537421+
TCGA-13-0751-01COSM80055c.1239T>Cp.S413SSubstitution - coding silent6:96540615-96540615+
TCGA-AG-3892-01COSM257216c.287G>Tp.R96ISubstitution - Missense6:96525331-96525331+
RKOCOSM4649026c.1551A>Gp.V517VSubstitution - coding silent6:96549442-96549442+
T2959COSM4739030c.71C>Tp.T24MSubstitution - Missense6:96521944-96521944+
ESCC_79COSM5635676c.1563C>Ap.F521LSubstitution - Missense6:96549454-96549454+
tumor_4102009COSM3358062c.1604G>Cp.R535PSubstitution - Missense6:96549495-96549495+
PA107COSM451949c.1911C>Tp.D637DSubstitution - coding silent6:96551849-96551849+
TCGA-CU-A0YN-01COSM421198c.1381G>Ap.E461KSubstitution - Missense6:96542995-96542995+
TCGA-UC-A7PF-01COSM4830324c.1507G>Cp.E503QSubstitution - Missense6:96548268-96548268+
ZZUFHECRKL-G038TCOSM5442549c.307T>Gp.S103ASubstitution - Missense6:96525351-96525351+
SC_9068COSM5565090c.692G>Cp.R231PSubstitution - Missense6:96536280-96536280+
P56COSM328973c.2269T>Gp.L757VSubstitution - Missense6:96553387-96553387+
3COSM5731990c.2170C>Gp.Q724ESubstitution - Missense6:96553288-96553288+
2492721COSM3630665c.1879C>Tp.H627YSubstitution - Missense6:96551493-96551493+
HCT15COSM3179034c.2158A>Gp.I720VSubstitution - Missense6:96552654-96552654+
TCGA-EW-A1IZ-01COSM1488003c.2375C>Tp.T792MSubstitution - Missense6:96553493-96553493+
TCGA-B0-5699-01COSM484465c.891A>Gp.K297KSubstitution - coding silent6:96537462-96537462+
TCGA-HU-A4G8-01COSM3179026c.1773G>Ap.S591SSubstitution - coding silent6:96549754-96549754+
1953_TCOSM3949554c.1592C>Gp.T531RSubstitution - Missense6:96549483-96549483+
TCGA-43-2578-01COSM743792c.1048A>Tp.S350CSubstitution - Missense6:96538700-96538700+
TCGA-DD-A3A9-01COSM4920479c.281A>Tp.E94VSubstitution - Missense6:96525325-96525325+
BD87TCOSM451949c.1911C>Tp.D637DSubstitution - coding silent6:96551849-96551849+
TCGA-CA-6716-01COSM1446523c.2352C>Gp.L784LSubstitution - coding silent6:96553470-96553470+
587376COSM1211994c.1103T>Gp.F368CSubstitution - Missense6:96538755-96538755+
TCGA-AA-3715-01COSM269441c.1067T>Cp.V356ASubstitution - Missense6:96538719-96538719+
HCT8COSM4635448c.835G>Tp.D279YSubstitution - Missense6:96537406-96537406+
S02322COSM5691525c.797A>Gp.Y266CSubstitution - Missense6:96536385-96536385+
LUAD-5O6B5COSM330721c.1096G>Ap.E366KSubstitution - Missense6:96538748-96538748+
T3021COSM4615163c.1972delAp.R660fs*17Deletion - Frameshift6:96551910-96551910+
SNUH_G45_S1COSM451949c.1911C>Tp.D637DSubstitution - coding silent6:96551849-96551849+
TCGA-BR-4362-01COSM3876234c.429T>Cp.C143CSubstitution - coding silent6:96526399-96526399+
PCSI_0060_Pa_XCOSM3381719c.1960A>Gp.K654ESubstitution - Missense6:96551898-96551898+
3N08-VS-3T08COSM4979127c.1249delAp.D419fs*14Deletion - Frameshift6:96540625-96540625+
61COSM5737700c.2195A>Gp.Q732RSubstitution - Missense6:96553313-96553313+
CSCC-38-TCOSM4465691c.1395C>Tp.S465SSubstitution - coding silent6:96543009-96543009+
TCGA-B5-A0JY-01COSM1082705c.1443G>Tp.E481DSubstitution - Missense6:96548204-96548204+
TCGA-22-5473-01COSM743795c.328G>Ap.V110MSubstitution - Missense6:96525372-96525372+
TCGA-HU-A4GQ-01COSM3876232c.236T>Cp.I79TSubstitution - Missense6:96524394-96524394+
ESCC_BICR_040TCOSM5430167c.153C>Gp.L51LSubstitution - coding silent6:96523221-96523221+
DLD1COSM1672630c.2342A>Tp.D781VSubstitution - Missense6:96553460-96553460+
TCGA-EJ-5516-01COSM1471966c.463C>Gp.Q155ESubstitution - Missense6:96526433-96526433+
XHDG27COSM4769169c.811G>Tp.A271SSubstitution - Missense6:96537382-96537382+
HCC037TCOSM5811842c.802+1G>Tp.?Unknown6:96536391-96536391+
TCGA-CG-5721-01COSM3876233c.405T>Cp.G135GSubstitution - coding silent6:96526375-96526375+
TCGA-AX-A2H5-01COSM1082698c.442C>Tp.L148FSubstitution - Missense6:96526412-96526412+
TCGA-BS-A0UV-01COSM1082710c.1890G>Tp.L630LSubstitution - coding silent6:96551504-96551504+
Pat_30_ACOSM5871259c.2005C>Tp.R669*Substitution - Nonsense6:96552501-96552501+
H1155COSM1082707c.1592C>Tp.T531MSubstitution - Missense6:96549483-96549483+
CHC892TCOSM4960715c.967G>Ap.V323ISubstitution - Missense6:96537538-96537538+
BD124TCOSM5492121c.1527T>Gp.L509LSubstitution - coding silent6:96549418-96549418+
TCGA-BS-A0UA-01COSM1082703c.980C>Ap.P327HSubstitution - Missense6:96538632-96538632+
TCGA-AX-A05Z-01COSM1082713c.2350C>Ap.L784ISubstitution - Missense6:96553468-96553468+
TCGA-CM-4744-01COSM1446522c.1664A>Gp.E555GSubstitution - Missense6:96549555-96549555+
PT42COSM5925315c.466-6C>Tp.?Unknown6:96528496-96528496+
ESCC-D7COSM5046402c.1919C>Gp.S640CSubstitution - Missense6:96551857-96551857+
TCGA-F5-6814-01COSM3430963c.1496C>Tp.S499LSubstitution - Missense6:96548257-96548257+
S01524COSM5285117c.850A>Gp.I284VSubstitution - Missense6:96537421-96537421+
TCGA-HU-A4G9-01COSM3876237c.1128C>Tp.F376FSubstitution - coding silent6:96538780-96538780+
T1COSM5617633c.1347G>Tp.K449NSubstitution - Missense6:96542961-96542961+
HCT15COSM1672630c.2342A>Tp.D781VSubstitution - Missense6:96553460-96553460+
PD13771aCOSM5800359c.221G>Ap.G74DSubstitution - Missense6:96523289-96523289+
TCGA-B0-5120-01COSM484466c.1686A>Gp.A562ASubstitution - coding silent6:96549577-96549577+
TCGA-GV-A3QI-01COSM1312460c.2083C>Ap.Q695KSubstitution - Missense6:96552579-96552579+
SC_9008COSM80055c.1239T>Cp.S413SSubstitution - coding silent6:96540615-96540615+
LC_C6COSM1187117c.1378G>Ap.D460NSubstitution - Missense6:96542992-96542992+
TCGA-D8-A1JK-01COSM1488002c.1884C>Gp.N628KSubstitution - Missense6:96551498-96551498+
TCGA-AP-A0LE-01COSM1082700c.572G>Ap.R191HSubstitution - Missense6:96528608-96528608+
TCGA-AX-A05S-01COSM1082712c.2306G>Ap.R769HSubstitution - Missense6:96553424-96553424+
TCGA-56-6546-01COSM743790c.2380G>Tp.E794*Substitution - Nonsense6:96553498-96553498+
SNU-175COSM4615163c.1972delAp.R660fs*17Deletion - Frameshift6:96551910-96551910+
YUGOECOSM1697656c.19G>Ap.E7KSubstitution - Missense6:96521892-96521892+
2492720COSM3630665c.1879C>Tp.H627YSubstitution - Missense6:96551493-96551493+
ccRCC-30COSM1665999c.1520+1G>Cp.?Unknown6:96548282-96548282+
TCGA-BR-4361-01COSM3876235c.589A>Gp.I197VSubstitution - Missense6:96528625-96528625+
I2L-P7-Tumor-OrganoidCOSM5079744c.465+4delTp.?Unknown6:96526439-96526439+
S01020COSM5665321c.1687G>Tp.D563YSubstitution - Missense6:96549578-96549578+
S01170COSM5701761c.449_450GG>TTp.G150VSubstitution - Missense6:96526419-96526420+
2492723COSM3630665c.1879C>Tp.H627YSubstitution - Missense6:96551493-96551493+
OST103PTCOSM1732392c.1702G>Ap.A568TSubstitution - Missense6:96549683-96549683+
TCGA-BS-A0UL-01COSM1082707c.1592C>Tp.T531MSubstitution - Missense6:96549483-96549483+
OST103PTCOSM1732393c.1521-1G>Cp.?Unknown6:96549411-96549411+
TCGA-C8-A1HM-01COSM451947c.1525C>Gp.L509VSubstitution - Missense6:96549416-96549416+
TCGA-B5-A0JY-01COSM1082711c.2156A>Cp.K719TSubstitution - Missense6:96552652-96552652+
SC_9072COSM5571281c.1033G>Cp.V345LSubstitution - Missense6:96538685-96538685+
53MCOSM5595532c.5C>Gp.A2GSubstitution - Missense6:96521878-96521878+
PCSI_0608_Pa_P_526COSM5761959c.894_908del15p.A299_Q303delACVGQDeletion - In frame6:96537465-96537479+
TCGA-AG-A002-01COSM261559c.1374T>Gp.S458RSubstitution - Missense6:96542988-96542988+
TCGA-B5-A0JV-01COSM1082701c.691C>Tp.R231*Substitution - Nonsense6:96536279-96536279+
HCT-15COSM1672630c.2342A>Tp.D781VSubstitution - Missense6:96553460-96553460+
134413COSM325614c.1118C>Tp.T373ISubstitution - Missense6:96538770-96538770+
TCGA-EJ-7792-01COSM1471965c.1271A>Gp.K424RSubstitution - Missense6:96540647-96540647+
Pat_76_BCOSM5871260c.2161C>Tp.P721SSubstitution - Missense6:96552657-96552657+
TCGA-18-3411-01COSM743793c.702G>Tp.V234VSubstitution - coding silent6:96536290-96536290+
LUAD-S01381COSM398622c.2248G>Tp.D750YSubstitution - Missense6:96553366-96553366+
CSCC-29-TCOSM4531780c.1823G>Ap.R608KSubstitution - Missense6:96551437-96551437+
SNU-175COSM3179017c.1175C>Tp.P392LSubstitution - Missense6:96540551-96540551+
CHC892TCOSM4794963c.1546G>Ap.V516MSubstitution - Missense6:96549437-96549437+
S00944COSM312273c.1150G>Tp.A384SSubstitution - Missense6:96538802-96538802+
YUHEFCOSM1697657c.2128C>Tp.P710SSubstitution - Missense6:96552624-96552624+
CSCC-27-TCOSM4476637c.2083C>Tp.Q695*Substitution - Nonsense6:96552579-96552579+
BD124TCOSM5079744c.465+4delTp.?Unknown6:96526439-96526439+
ACINAR06COSM1735655c.1567T>Cp.S523PSubstitution - Missense6:96549458-96549458+
TCGA-A2-A04P-01COSM451948c.1609A>Gp.I537VSubstitution - Missense6:96549500-96549500+
TCGA-AX-A05Z-01COSM1082702c.860G>Tp.R287ISubstitution - Missense6:96537431-96537431+
OSCC-GB_01360111COSM5955548c.2224C>Tp.Q742*Substitution - Nonsense6:96553342-96553342+
HN_62506COSM123920c.1597A>Gp.R533GSubstitution - Missense6:96549488-96549488+
TCGA-AG-A002-01COSM261560c.1786G>Ap.A596TSubstitution - Missense6:96549767-96549767+
ESO-717COSM1242424c.537G>Ap.T179TSubstitution - coding silent6:96528573-96528573+
3206A7_017_TCOSM5043062c.724G>Tp.A242SSubstitution - Missense6:96536312-96536312+
cSCCP4COSM138581c.1709C>Tp.T570ISubstitution - Missense6:96549690-96549690+
PD22355aCOSM5797618c.978+5G>Tp.?Unknown6:96537554-96537554+
TCGA-EW-A1P8-01COSM1488000c.223+1G>Ap.?Unknown6:96523292-96523292+
587376COSM1211995c.2320G>Tp.E774*Substitution - Nonsense6:96553438-96553438+
PD6410aCOSM5785444c.1782G>Cp.M594ISubstitution - Missense6:96549763-96549763+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.149361;Hs.149363;Hs.1493676q16.16133721511233|dbSNP|BC028608|G/T|non-coding||3449|Validated;
1511233|dbSNP|BC036379|G/T|non-coding||3443|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.I490Mc.1470A>G696996107BRCA
AGMissensep.I537Vc.1609A>G696997376BRCA
AGMissensep.K424Rc.1271A>G696988523PRAD
AGMissensep.R533Gc.1597A>G696997364HNSC
AGSynonymousp.A562Ac.1686A>G696997453RCCC
A-IntronicDeletion.c.1159-17delA696988388STAD
ATIntronicSNV.c.465+49A>T696974360NSCLC
ATMissensep.S350Cc.1048A>T696986576LUSC
CAMissensep.P327Hc.980C>A696986508UCEC
CAMissensep.Q695Kc.2083C>A697000455BLCA
C-Frameshiftp.R377Vfs*3c.1129delC696986656STAD
CGMissensep.N628Kc.1884C>G696999374BRCA
CTMissensep.L148Fc.442C>T696974288UCEC
CTMissensep.P710Lc.2129C>T697000501LUAD
CTMissensep.R535Cc.1603C>T696997370COREAD
CTMissensep.S778Fc.2333C>T697001327CM
CTMissensep.S790Fc.2369C>T697001363UCEC
CTMissensep.T373Ic.1118C>T696986646SCLC
CTMissensep.T531Mc.1592C>T696997359UCEC
GAMissensep.E461Kc.1381G>A696990871BLCA
GAMissensep.G437Rc.1309G>A696990799BRCA
GAMissensep.R185Qc.554G>A696976466LUAD
GAMissensep.R441Kc.1322G>A696990812HNSC
GAMissensep.R769Hc.2306G>A697001300UCEC
GAMissensep.V110Mc.328G>A696973248LUSC
GASpliceDonorSNV.c.223+1G>A696971168BRCA
GCMissensep.K744Nc.2232G>C697001226BRCA
GGTTMissensep.D592Yc.1773_1774delinsTT696997630LUAD
GTMissensep.A384Sc.1150G>T696986678SCLC
GTNonsensep.E794*c.2380G>T697001374LUSC
GTSynonymousp.V234Vc.702G>T696984166LUSC
TCSynonymousp.L39Lc.115T>C696971059HNSC
TCSynonymousp.S413Sc.1239T>C696988491OV
TGMissensep.I101Sc.302T>G696973222STAD
-TIntronicInsertion.c.350+57dupT696973320ESCA