OPTN
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC101315241913152419+Missense_MutationSNPTTATCGA-OR-A5JI-01A-11D-A29I-10TCGA-OR-A5JI-10A-01D-A29L-10g.chr10:13152419T>Ac.312T>Ac.(310-312)aaT>aaAp.N104K
BLCA101315113813151138+Missense_MutationSNPCCTTCGA-LT-A5Z6-01A-11D-A289-08TCGA-LT-A5Z6-10A-01D-A289-08g.chr10:13151138C>Tc.16C>Tc.(16-18)Ctc>Ttcp.L6F
BLCA101315115313151153+Missense_MutationSNPGGATCGA-E7-A7XN-01A-11D-A34U-08TCGA-E7-A7XN-10A-01D-A34X-08g.chr10:13151153G>Ac.31G>Ac.(31-33)Gaa>Aaap.E11K
BLCA101315127213151272+Missense_MutationSNPGGTTCGA-ZF-AA58-01A-12D-A42E-08TCGA-ZF-AA58-10A-01D-A42H-08g.chr10:13151272G>Tc.150G>Tc.(148-150)gaG>gaTp.E50D
BLCA101315241413152414+Missense_MutationSNPGGATCGA-XF-A9SY-01A-21D-A42E-08TCGA-XF-A9SY-10A-01D-A42H-08g.chr10:13152414G>Ac.307G>Ac.(307-309)Gag>Aagp.E103K
BLCA101315458113154581+SilentSNPCCGTCGA-G2-A2EO-01A-11D-A17V-08TCGA-G2-A2EO-11A-21D-A17V-08g.chr10:13154581C>Gc.498C>Gc.(496-498)ctC>ctGp.L166L
BLCA101316093913160939+SilentSNPCCTTCGA-DK-A6AW-01A-11D-A30E-08TCGA-DK-A6AW-10A-01D-A30H-08g.chr10:13160939C>Tc.678C>Tc.(676-678)ttC>ttTp.F226F
BLCA101316100513161005+SilentSNPGGATCGA-E5-A4U1-01A-11D-A31L-08TCGA-E5-A4U1-10B-01D-A31J-08g.chr10:13161005G>Ac.744G>Ac.(742-744)gaG>gaAp.E248E
BLCA101316444013164440+Missense_MutationSNPGGCTCGA-DK-A3IN-01A-11D-A20D-08TCGA-DK-A3IN-10A-01D-A20D-08g.chr10:13164440G>Cc.835G>Cc.(835-837)Gag>Cagp.E279Q
BLCA101316445413164454+SilentSNPGGATCGA-FD-A62O-01A-11D-A30E-08TCGA-FD-A62O-10A-01D-A30H-08g.chr10:13164454G>Ac.849G>Ac.(847-849)gaG>gaAp.E283E
BLCA101316448213164482+Missense_MutationSNPGGATCGA-FD-A6TC-01A-21D-A339-08TCGA-FD-A6TC-10A-21D-A339-08g.chr10:13164482G>Ac.877G>Ac.(877-879)Gag>Aagp.E293K
BLCA101316599913165999+Missense_MutationSNPGGATCGA-XF-AAN0-01A-11D-A42E-08TCGA-XF-AAN0-10A-01D-A42H-08g.chr10:13165999G>Ac.887G>Ac.(886-888)gGa>gAap.G296E
BLCA101316752813167528+Nonsense_MutationSNPCCGTCGA-K4-A54R-01A-11D-A26M-08TCGA-K4-A54R-10A-01D-A26K-08g.chr10:13167528C>Gc.1109C>Gc.(1108-1110)tCa>tGap.S370*
BRCA101315119213151192+Frame_Shift_DelDELCC-TCGA-D8-A1XQ-01A-11D-A14K-09TCGA-D8-A1XQ-10A-01D-A14K-09g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
BRCA101316448213164482+Missense_MutationSNPGGCTCGA-AO-A03M-01B-11D-A10M-09TCGA-AO-A03M-10A-01D-A10M-09g.chr10:13164482G>Cc.877G>Cc.(877-879)Gag>Cagp.E293Q
BRCA101316605513166055+Missense_MutationSNPGGATCGA-BH-A0HN-01A-11D-A099-09TCGA-BH-A0HN-10A-01D-A099-09g.chr10:13166055G>Ac.943G>Ac.(943-945)Gag>Aagp.E315K
BRCA101316975913169759+SilentSNPCCTTCGA-D8-A1Y1-01A-21D-A14K-09TCGA-D8-A1Y1-10A-01D-A14K-09g.chr10:13169759C>Tc.1257C>Tc.(1255-1257)gaC>gaTp.D419D
BRCA101317412913174129+SilentSNPAAGTCGA-E9-A243-01A-21D-A167-09TCGA-E9-A243-10A-01D-A17G-09g.chr10:13174129A>Gc.1464A>Gc.(1462-1464)gaA>gaGp.E488E
CESC101315229413152294+Missense_MutationSNPCCGTCGA-JW-A5VL-01A-11D-A28B-09TCGA-JW-A5VL-10A-01D-A28E-09g.chr10:13152294C>Gc.187C>Gc.(187-189)Caa>Gaap.Q63E
CESC101316981413169814+Missense_MutationSNPGGTTCGA-EA-A3Y4-01A-51D-A243-09TCGA-EA-A3Y4-10A-01D-A243-09g.chr10:13169814G>Tc.1312G>Tc.(1312-1314)Gct>Tctp.A438S
COAD101315116613151166+Missense_MutationSNPGGTTCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr10:13151166G>Tc.44G>Tc.(43-45)aGc>aTcp.S15I
COAD101315119213151192+Frame_Shift_DelDELCC-TCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
COAD101315119213151192+Frame_Shift_DelDELCC-TCGA-D5-6540-01A-11D-1719-10TCGA-D5-6540-10A-01D-1719-10g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
COAD101315235513152355+Missense_MutationSNPGGATCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr10:13152355G>Ac.248G>Ac.(247-249)cGc>cAcp.R83H
COAD101315453813154538+Missense_MutationSNPCCTTCGA-AU-6004-01A-11D-1719-10TCGA-AU-6004-10A-01D-1719-10g.chr10:13154538C>Tc.455C>Tc.(454-456)gCa>gTap.A152V
COAD101315463313154633+Missense_MutationSNPGGTTCGA-CM-6674-01A-11D-1835-10TCGA-CM-6674-10A-01D-1835-10g.chr10:13154633G>Tc.550G>Tc.(550-552)Gct>Tctp.A184S
COAD101316093913160939+SilentSNPCCTTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr10:13160939C>Tc.678C>Tc.(676-678)ttC>ttTp.F226F
COAD101316751513167515+Nonsense_MutationSNPGGTTCGA-DM-A1DA-01A-11D-A152-10TCGA-DM-A1DA-10A-01D-A152-10g.chr10:13167515G>Tc.1096G>Tc.(1096-1098)Gaa>Taap.E366*
COAD101316753013167530+Missense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr10:13167530G>Ac.1111G>Ac.(1111-1113)Gaa>Aaap.E371K
COAD101316799113167991+SilentSNPAAGTCGA-DM-A1D4-01A-21D-A152-10TCGA-DM-A1D4-10A-01D-A152-10g.chr10:13167991A>Gc.1194A>Gc.(1192-1194)caA>caGp.Q398Q
COAD101316799113167991+SilentSNPAAGTCGA-DM-A1D6-01A-21D-A152-10TCGA-DM-A1D6-10A-01D-A152-10g.chr10:13167991A>Gc.1194A>Gc.(1192-1194)caA>caGp.Q398Q
COAD101316799613167996+Missense_MutationSNPAAGTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr10:13167996A>Gc.1199A>Gc.(1198-1200)cAt>cGtp.H400R
COAD101317418313174183+SilentSNPCCTTCGA-CM-5348-01A-21D-1719-10TCGA-CM-5348-10A-01D-1719-10g.chr10:13174183C>Tc.1518C>Tc.(1516-1518)ttC>ttTp.F506F
COAD101317418913174189+SilentSNPCCTTCGA-AA-3710-01A-01W-0995-10TCGA-AA-3710-10A-01W-0995-10g.chr10:13174189C>Tc.1524C>Tc.(1522-1524)gaC>gaTp.D508D
COADREAD101315116613151166+Missense_MutationSNPGGTTCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr10:13151166G>Tc.44G>Tc.(43-45)aGc>aTcp.S15I
COADREAD101315119213151192+Frame_Shift_DelDELCC-TCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
COADREAD101315119213151192+Frame_Shift_DelDELCC-TCGA-D5-6540-01A-11D-1719-10TCGA-D5-6540-10A-01D-1719-10g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
COADREAD101315235513152355+Missense_MutationSNPGGATCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr10:13152355G>Ac.248G>Ac.(247-249)cGc>cAcp.R83H
COADREAD101315453813154538+Missense_MutationSNPCCTTCGA-AU-6004-01A-11D-1719-10TCGA-AU-6004-10A-01D-1719-10g.chr10:13154538C>Tc.455C>Tc.(454-456)gCa>gTap.A152V
COADREAD101315463313154633+Missense_MutationSNPGGTTCGA-CM-6674-01A-11D-1835-10TCGA-CM-6674-10A-01D-1835-10g.chr10:13154633G>Tc.550G>Tc.(550-552)Gct>Tctp.A184S
COADREAD101316093913160939+SilentSNPCCTTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr10:13160939C>Tc.678C>Tc.(676-678)ttC>ttTp.F226F
COADREAD101316094013160940+Missense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr10:13160940G>Ac.679G>Ac.(679-681)Gaa>Aaap.E227K
COADREAD101316751513167515+Nonsense_MutationSNPGGTTCGA-DM-A1DA-01A-11D-A152-10TCGA-DM-A1DA-10A-01D-A152-10g.chr10:13167515G>Tc.1096G>Tc.(1096-1098)Gaa>Taap.E366*
COADREAD101316753013167530+Missense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr10:13167530G>Ac.1111G>Ac.(1111-1113)Gaa>Aaap.E371K
COADREAD101316799113167991+SilentSNPAAGTCGA-DM-A1D4-01A-21D-A152-10TCGA-DM-A1D4-10A-01D-A152-10g.chr10:13167991A>Gc.1194A>Gc.(1192-1194)caA>caGp.Q398Q
COADREAD101316799113167991+SilentSNPAAGTCGA-DM-A1D6-01A-21D-A152-10TCGA-DM-A1D6-10A-01D-A152-10g.chr10:13167991A>Gc.1194A>Gc.(1192-1194)caA>caGp.Q398Q
COADREAD101316799613167996+Missense_MutationSNPAAGTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr10:13167996A>Gc.1199A>Gc.(1198-1200)cAt>cGtp.H400R
COADREAD101317418313174183+SilentSNPCCTTCGA-CM-5348-01A-21D-1719-10TCGA-CM-5348-10A-01D-1719-10g.chr10:13174183C>Tc.1518C>Tc.(1516-1518)ttC>ttTp.F506F
COADREAD101317418913174189+SilentSNPCCTTCGA-AA-3710-01A-01W-0995-10TCGA-AA-3710-10A-01W-0995-10g.chr10:13174189C>Tc.1524C>Tc.(1522-1524)gaC>gaTp.D508D
DLBC101316799713167997+Missense_MutationSNPTTGTCGA-GS-A9TW-01A-11D-A382-10TCGA-GS-A9TW-10A-01D-A385-10g.chr10:13167997T>Gc.1200T>Gc.(1198-1200)caT>caGp.H400Q
DLBC101316802513168025+Missense_MutationSNPCCATCGA-G8-6906-01A-11D-2210-10TCGA-G8-6906-14A-01D-2210-10g.chr10:13168025C>Ac.1228C>Ac.(1228-1230)Cta>Atap.L410I
ESCA101315119213151192+Frame_Shift_DelDELCC-TCGA-L5-A4OI-01A-11D-A27G-09TCGA-L5-A4OI-11A-11D-A27G-09g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
ESCA101315128413151284+SilentSNPGGATCGA-LN-A49L-01A-11D-A247-09TCGA-LN-A49L-10A-01D-A247-09g.chr10:13151284G>Ac.162G>Ac.(160-162)ctG>ctAp.L54L
ESCA101316101813161018+Missense_MutationSNPGGATCGA-IC-A6RE-01A-11D-A33E-09TCGA-IC-A6RE-10A-01D-A33H-09g.chr10:13161018G>Ac.757G>Ac.(757-759)Gca>Acap.A253T
ESCA101316440313164403+Missense_MutationSNPGGCTCGA-LN-A9FO-01A-11D-A387-09TCGA-LN-A9FO-10A-01D-A38A-09g.chr10:13164403G>Cc.798G>Cc.(796-798)aaG>aaCp.K266N
ESCA101317416613174166+Missense_MutationSNPAAGTCGA-IG-A5B8-01A-11D-A28B-09TCGA-IG-A5B8-10A-01D-A28E-09g.chr10:13174166A>Gc.1501A>Gc.(1501-1503)Aaa>Gaap.K501E
GBM101317413113174131+Missense_MutationSNPAAGTCGA-76-6660-01A-11D-1845-08TCGA-76-6660-10A-01D-1845-08g.chr10:13174131A>Gc.1466A>Gc.(1465-1467)aAg>aGgp.K489R
GBMLGG101317413113174131+Missense_MutationSNPAAGTCGA-76-6660-01A-11D-1845-08TCGA-76-6660-10A-01D-1845-08g.chr10:13174131A>Gc.1466A>Gc.(1465-1467)aAg>aGgp.K489R
HNSC101315119213151192+Frame_Shift_DelDELCC-TCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr10:13151192delCc.70delCc.(70-72)cccfsp.P25fs
KIPAN101316099413160994+Nonsense_MutationSNPCCTTCGA-P4-A5EB-01A-11D-A28G-10TCGA-P4-A5EB-11A-11D-A28G-10g.chr10:13160994C>Tc.733C>Tc.(733-735)Cag>Tagp.Q245*
KIPAN101316796313167963+Missense_MutationSNPTTATCGA-P4-AAVL-01A-11D-A42J-10TCGA-P4-AAVL-11A-11D-A42M-10g.chr10:13167963T>Ac.1166T>Ac.(1165-1167)cTa>cAap.L389Q
KIRP101316099413160994+Nonsense_MutationSNPCCTTCGA-P4-A5EB-01A-11D-A28G-10TCGA-P4-A5EB-11A-11D-A28G-10g.chr10:13160994C>Tc.733C>Tc.(733-735)Cag>Tagp.Q245*
KIRP101316796313167963+Missense_MutationSNPTTATCGA-P4-AAVL-01A-11D-A42J-10TCGA-P4-AAVL-11A-11D-A42M-10g.chr10:13167963T>Ac.1166T>Ac.(1165-1167)cTa>cAap.L389Q
LIHC101315240113152401+Missense_MutationSNPGGATCGA-DD-A39Y-01A-11D-A20W-10TCGA-DD-A39Y-11A-11D-A20W-10g.chr10:13152401G>Ac.294G>Ac.(292-294)atG>atAp.M98I
LIHC101315462013154620+SilentSNPTTGTCGA-2Y-A9H6-01A-11D-A38X-10TCGA-2Y-A9H6-10A-01D-A38X-10g.chr10:13154620T>Gc.537T>Gc.(535-537)gtT>gtGp.V179V
LUAD101315121613151216+Missense_MutationSNPCCGTCGA-83-5908-01A-21D-2284-08TCGA-83-5908-10A-01D-2284-08g.chr10:13151216C>Gc.94C>Gc.(94-96)Ctg>Gtgp.L32V
LUAD101315240113152401+Missense_MutationSNPGGATCGA-05-4405-01A-21D-1855-08TCGA-05-4405-10A-01D-1855-08g.chr10:13152401G>Ac.294G>Ac.(292-294)atG>atAp.M98I
LUAD101315460813154608+SilentSNPAAGTCGA-78-7535-01A-11D-2063-08TCGA-78-7535-10A-01D-2063-08g.chr10:13154608A>Gc.525A>Gc.(523-525)gaA>gaGp.E175E
LUAD101315460913154609+Missense_MutationSNPGGTTCGA-05-4397-01A-01D-1265-08TCGA-05-4397-10A-01D-1265-08g.chr10:13154609G>Tc.526G>Tc.(526-528)Gat>Tatp.D176Y
LUAD101316091913160919+Missense_MutationSNPGGATCGA-93-A4JP-01A-11D-A24P-08TCGA-93-A4JP-10A-01D-A24P-08g.chr10:13160919G>Ac.658G>Ac.(658-660)Gat>Aatp.D220N
LUAD101316604613166046+Missense_MutationSNPGGATCGA-50-6590-01A-12D-1855-08TCGA-50-6590-11A-01D-1855-08g.chr10:13166046G>Ac.934G>Ac.(934-936)Gag>Aagp.E312K
LUAD101316974813169748+Missense_MutationSNPGGATCGA-44-8120-01A-11D-2238-08TCGA-44-8120-10A-01D-2238-08g.chr10:13169748G>Ac.1246G>Ac.(1246-1248)Gaa>Aaap.E416K
LUAD101317553813175538+SilentSNPGGTTCGA-44-3918-01A-01D-1105-08TCGA-44-3918-11A-01D-1105-08g.chr10:13175538G>Tc.1569G>Tc.(1567-1569)gcG>gcTp.A523A
LUSC101316800213168002+Missense_MutationSNPAACTCGA-63-5128-01A-01D-1441-08TCGA-63-5128-10A-01D-1441-08g.chr10:13168002A>Cc.1205A>Cc.(1204-1206)aAt>aCtp.N402T
OV101315118313151183+Missense_MutationSNPGGCTCGA-29-1693-01A-01W-0633-09TCGA-29-1693-10A-01W-0633-09g.chr10:13151183G>Cc.61G>Cc.(61-63)Gga>Cgap.G21R
OV101316608213166082+Missense_MutationSNPGGCTCGA-25-1631-01A-01W-0615-10TCGA-25-1631-10A-01W-0615-10g.chr10:13166082G>Cc.970G>Cc.(970-972)Gag>Cagp.E324Q
OV101316799013167990+Missense_MutationSNPAACTCGA-30-1853-01A-02W-0699-08TCGA-30-1853-10A-01W-0699-08g.chr10:13167990A>Cc.1193A>Cc.(1192-1194)cAa>cCap.Q398P
READ101316094013160940+Missense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr10:13160940G>Ac.679G>Ac.(679-681)Gaa>Aaap.E227K
SARC101316749713167509+Frame_Shift_DelDELAAGTTAGAGCTACAAGTTAGAGCTAC-TCGA-DX-AB2W-01A-11D-A38Z-09TCGA-DX-AB2W-10A-01D-A38Z-09g.chr10:13167497_13167509delAAGTTAGAGCTACc.1078_1090delAAGTTAGAGCTACc.(1078-1092)aagttagagctacaafsp.KLELQ360fs
SKCM101315126813151268+Missense_MutationSNPCCTTCGA-D3-A3ML-06A-11D-A21A-08TCGA-D3-A3ML-10A-01D-A21A-08g.chr10:13151268C>Tc.146C>Tc.(145-147)aCc>aTcp.T49I
SKCM101315126913151269+SilentSNPCCTTCGA-D3-A3ML-06A-11D-A21A-08TCGA-D3-A3ML-10A-01D-A21A-08g.chr10:13151269C>Tc.147C>Tc.(145-147)acC>acTp.T49T
SKCM101315231313152313+Missense_MutationSNPTTGTCGA-D9-A6EC-06A-11D-A30X-08TCGA-D9-A6EC-10A-01D-A30X-08g.chr10:13152313T>Gc.206T>Gc.(205-207)tTt>tGtp.F69C
SKCM101316742813167428+Missense_MutationSNPCCTTCGA-GF-A6C9-06A-11D-A30X-08TCGA-GF-A6C9-10A-01D-A30X-08g.chr10:13167428C>Tc.1009C>Tc.(1009-1011)Ctt>Tttp.L337F
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US101315458113154581single base substitutionCGdownstream_gene_variant
BLCA-US101315458113154581single base substitutionCGexon_variant
BLCA-US101315458113154581single base substitutionCGsynonymous_variantL109L327C>G
BLCA-US101315458113154581single base substitutionCGsynonymous_variantL166L498C>G
BLCA-US101315458113154581single base substitutionCGupstream_gene_variant
BLCA-US101316444013164440single base substitutionGCdownstream_gene_variant
BLCA-US101316444013164440single base substitutionGCmissense_variantE273Q817G>C
BLCA-US101316444013164440single base substitutionGCmissense_variantE279Q835G>C
BLCA-US101316444013164440single base substitutionGCmissense_variantE94Q280G>C
BRCA-EU101313721013137210single base substitutionCTupstream_gene_variant
BRCA-EU101313787013137870single base substitutionATupstream_gene_variant
BRCA-EU101313803013138030single base substitutionCTupstream_gene_variant
BRCA-EU101313808913138089single base substitutionATupstream_gene_variant
BRCA-EU101313940213139402single base substitutionATupstream_gene_variant
BRCA-EU101313967113139671single base substitutionCTupstream_gene_variant
BRCA-EU101314322213143222single base substitutionGCintron_variant
BRCA-EU101314421213144212single base substitutionAGintron_variant
BRCA-EU101314522613145226single base substitutionGAintron_variant
BRCA-EU101314668213146682single base substitutionGCintron_variant
BRCA-EU101314675513146755single base substitutionCTintron_variant
BRCA-EU101314704013147040single base substitutionTCintron_variant
BRCA-EU101314830313148303deletion of <=200bpA-intron_variant
BRCA-EU101314836513148365single base substitutionGAintron_variant
BRCA-EU101314956713149567single base substitutionGCintron_variant
BRCA-EU101314956713149567single base substitutionGCupstream_gene_variant
BRCA-EU101315007413150074single base substitutionAGintron_variant
BRCA-EU101315007413150074single base substitutionAGupstream_gene_variant
BRCA-EU101315079913150799single base substitutionGAintron_variant
BRCA-EU101315079913150799single base substitutionGAupstream_gene_variant
BRCA-EU101315231813152318single base substitutionGCdownstream_gene_variant
BRCA-EU101315231813152318single base substitutionGCintron_variant
BRCA-EU101315231813152318single base substitutionGCmissense_variantE14Q40G>C
BRCA-EU101315231813152318single base substitutionGCmissense_variantE71Q211G>C
BRCA-EU101315231813152318single base substitutionGCupstream_gene_variant
BRCA-EU101315278913152789single base substitutionAGdownstream_gene_variant
BRCA-EU101315278913152789single base substitutionAGintron_variant
BRCA-EU101315278913152789single base substitutionAGupstream_gene_variant
BRCA-EU101315320613153206single base substitutionGAdownstream_gene_variant
BRCA-EU101315320613153206single base substitutionGAintron_variant
BRCA-EU101315320613153206single base substitutionGAupstream_gene_variant
BRCA-EU101315320713153207deletion of <=200bpT-downstream_gene_variant
BRCA-EU101315320713153207deletion of <=200bpT-intron_variant
BRCA-EU101315320713153207deletion of <=200bpT-upstream_gene_variant
BRCA-EU101315348213153482single base substitutionGCdownstream_gene_variant
BRCA-EU101315348213153482single base substitutionGCintron_variant
BRCA-EU101315348213153482single base substitutionGCupstream_gene_variant
BRCA-EU101315371813153718single base substitutionAGdownstream_gene_variant
BRCA-EU101315371813153718single base substitutionAGintron_variant
BRCA-EU101315371813153718single base substitutionAGupstream_gene_variant
BRCA-EU101315602513156025single base substitutionCTdownstream_gene_variant
BRCA-EU101315602513156025single base substitutionCTintron_variant
BRCA-EU101315602513156025single base substitutionCTupstream_gene_variant
BRCA-EU101315782813157828single base substitutionGCintron_variant
BRCA-EU101315782813157828single base substitutionGCupstream_gene_variant
BRCA-EU101315877913158779single base substitutionAGdownstream_gene_variant
BRCA-EU101315877913158779single base substitutionAGintron_variant
BRCA-EU101315960813159608single base substitutionGTdownstream_gene_variant
BRCA-EU101315960813159608single base substitutionGTintron_variant
BRCA-EU101315964213159642single base substitutionTGdownstream_gene_variant
BRCA-EU101315964213159642single base substitutionTGintron_variant
BRCA-EU101315965213159652single base substitutionGCdownstream_gene_variant
BRCA-EU101315965213159652single base substitutionGCintron_variant
BRCA-EU101316197213161972deletion of <=200bpA-downstream_gene_variant
BRCA-EU101316197213161972deletion of <=200bpA-intron_variant
BRCA-EU101316250913162509single base substitutionGAdownstream_gene_variant
BRCA-EU101316250913162509single base substitutionGAintron_variant
BRCA-EU101316300213163011deletion of <=200bpCTCATGAGAA-downstream_gene_variant
BRCA-EU101316300213163011deletion of <=200bpCTCATGAGAA-intron_variant
BRCA-EU101316438113164381single base substitutionCTdownstream_gene_variant
BRCA-EU101316438113164381single base substitutionCTsplice_region_variant
BRCA-EU101316495213164952single base substitutionGA3_prime_UTR_variant
BRCA-EU101316495213164952single base substitutionGAdownstream_gene_variant
BRCA-EU101316495213164952single base substitutionGAintron_variant
BRCA-EU101316504513165045single base substitutionCT3_prime_UTR_variant
BRCA-EU101316504513165045single base substitutionCTdownstream_gene_variant
BRCA-EU101316504513165045single base substitutionCTintron_variant
BRCA-EU101316594813165948single base substitutionGAdownstream_gene_variant
BRCA-EU101316594813165948single base substitutionGAintron_variant
BRCA-EU101316627513166275single base substitutionGAdownstream_gene_variant
BRCA-EU101316627513166275single base substitutionGAintron_variant
BRCA-EU101316726913167269single base substitutionGTdownstream_gene_variant
BRCA-EU101316726913167269single base substitutionGTintron_variant
BRCA-EU101316773513167735single base substitutionTCdownstream_gene_variant
BRCA-EU101316773513167735single base substitutionTCintron_variant
BRCA-EU101316886813168868single base substitutionACdownstream_gene_variant
BRCA-EU101316886813168868single base substitutionACintron_variant
BRCA-EU101316886813168868single base substitutionACupstream_gene_variant
BRCA-EU101316908513169085single base substitutionAGdownstream_gene_variant
BRCA-EU101316908513169085single base substitutionAGintron_variant
BRCA-EU101316908513169085single base substitutionAGupstream_gene_variant
BRCA-EU101316950213169502single base substitutionTAdownstream_gene_variant
BRCA-EU101316950213169502single base substitutionTAintron_variant
BRCA-EU101316950213169502single base substitutionTAupstream_gene_variant
BRCA-EU101317254313172543single base substitutionGCintron_variant
BRCA-EU101317254313172543single base substitutionGCupstream_gene_variant
BRCA-EU101317261013172610single base substitutionGTintron_variant
BRCA-EU101317261013172610single base substitutionGTupstream_gene_variant
BRCA-EU101317282913172833deletion of <=200bpACTCA-intron_variant
BRCA-EU101317282913172833deletion of <=200bpACTCA-upstream_gene_variant
BRCA-EU101317283413172834single base substitutionAGintron_variant
BRCA-EU101317283413172834single base substitutionAGupstream_gene_variant
BRCA-EU101317358513173585single base substitutionGCintron_variant
BRCA-EU101317637513176375single base substitutionTGintron_variant
BRCA-EU101317772313177723single base substitutionGAintron_variant
BRCA-EU101317835413178354deletion of <=200bpA-intron_variant
BRCA-EU101317919113179191single base substitutionAG3_prime_UTR_variant
BRCA-EU101317919113179191single base substitutionAGdownstream_gene_variant
BRCA-EU101317925213179252single base substitutionCT3_prime_UTR_variant
BRCA-EU101317925213179252single base substitutionCTdownstream_gene_variant
BRCA-EU101317995513179955single base substitutionGA3_prime_UTR_variant
BRCA-EU101317995513179955single base substitutionGAdownstream_gene_variant
BRCA-EU101317995613179956single base substitutionCA3_prime_UTR_variant
BRCA-EU101317995613179956single base substitutionCAdownstream_gene_variant
BRCA-EU101318034313180344deletion of <=200bpTA-downstream_gene_variant
BRCA-EU101318136913181370deletion of <=200bpGA-downstream_gene_variant
BRCA-EU101318166713181667single base substitutionCGdownstream_gene_variant
BRCA-EU101318207213182072deletion of <=200bpT-downstream_gene_variant
BRCA-EU101318228213182282single base substitutionCGdownstream_gene_variant
BRCA-EU101318229513182295single base substitutionCAdownstream_gene_variant
BRCA-EU101318250613182506single base substitutionCTdownstream_gene_variant
BRCA-EU101318283413182834single base substitutionGAdownstream_gene_variant
BRCA-EU101318400913184009single base substitutionTAdownstream_gene_variant
BRCA-EU101318447613184476single base substitutionGTdownstream_gene_variant
BRCA-FR101314421213144212single base substitutionAGintron_variant
BRCA-FR101314675513146755single base substitutionCTintron_variant
BRCA-FR101314836513148365single base substitutionGAintron_variant
BRCA-FR101315079913150799single base substitutionGAintron_variant
BRCA-FR101315079913150799single base substitutionGAupstream_gene_variant
BRCA-FR101317925213179252single base substitutionCT3_prime_UTR_variant
BRCA-FR101317925213179252single base substitutionCTdownstream_gene_variant
BRCA-FR101318250613182506single base substitutionCTdownstream_gene_variant
BRCA-FR101318447613184476single base substitutionGTdownstream_gene_variant
BRCA-UK101314704013147040single base substitutionTCintron_variant
BRCA-UK101315829413158294single base substitutionGCexon_variant
BRCA-UK101315829413158294single base substitutionGCmissense_variantE137Q409G>C
BRCA-UK101315829413158294single base substitutionGCmissense_variantE194Q580G>C
BRCA-UK101315829413158294single base substitutionGCmissense_variantE9Q25G>C
BRCA-UK101316908513169085single base substitutionAGdownstream_gene_variant
BRCA-UK101316908513169085single base substitutionAGintron_variant
BRCA-UK101316908513169085single base substitutionAGupstream_gene_variant
BRCA-US101315119213151192deletion of <=200bpC-5_prime_UTR_variant
BRCA-US101315119213151192deletion of <=200bpC-exon_variant
BRCA-US101315119213151192deletion of <=200bpC-frameshift_variantP24
BRCA-US101315119213151192deletion of <=200bpC-upstream_gene_variant
BRCA-US101315844413158444single base substitutionCAdownstream_gene_variant
BRCA-US101315844413158444single base substitutionCAexon_variant
BRCA-US101315844413158444single base substitutionCAintron_variant
BRCA-US101316448213164482single base substitutionGCdownstream_gene_variant
BRCA-US101316448213164482single base substitutionGCmissense_variantE108Q322G>C
BRCA-US101316448213164482single base substitutionGCmissense_variantE287Q859G>C
BRCA-US101316448213164482single base substitutionGCmissense_variantE293Q877G>C
BRCA-US101316605513166055single base substitutionGAdownstream_gene_variant
BRCA-US101316605513166055single base substitutionGAmissense_variantE309K925G>A
BRCA-US101316605513166055single base substitutionGAmissense_variantE315K943G>A
BRCA-US101316975913169759single base substitutionCTdownstream_gene_variant
BRCA-US101316975913169759single base substitutionCTsynonymous_variantD413D1239C>T
BRCA-US101316975913169759single base substitutionCTsynonymous_variantD419D1257C>T
BRCA-US101316975913169759single base substitutionCTupstream_gene_variant
BRCA-US101317412913174129single base substitutionAGexon_variant
BRCA-US101317412913174129single base substitutionAGsynonymous_variantE482E1446A>G
BRCA-US101317412913174129single base substitutionAGsynonymous_variantE488E1464A>G
BTCA-JP101315119213151192deletion of <=200bpC-5_prime_UTR_variant
BTCA-JP101315119213151192deletion of <=200bpC-exon_variant
BTCA-JP101315119213151192deletion of <=200bpC-frameshift_variantP24
BTCA-JP101315119213151192deletion of <=200bpC-upstream_gene_variant
BTCA-JP101315467113154671single base substitutionTAdownstream_gene_variant
BTCA-JP101315467113154671single base substitutionTAintron_variant
BTCA-JP101315467113154671single base substitutionTAupstream_gene_variant
BTCA-JP101316739913167399single base substitutionACdownstream_gene_variant
BTCA-JP101316739913167399single base substitutionACintron_variant
CESC-US101315229413152294single base substitutionCGdownstream_gene_variant
CESC-US101315229413152294single base substitutionCGintron_variant
CESC-US101315229413152294single base substitutionCGmissense_variantQ63E187C>G
CESC-US101315229413152294single base substitutionCGmissense_variantQ6E16C>G
CESC-US101315229413152294single base substitutionCGupstream_gene_variant
CESC-US101316981413169814single base substitutionGTdownstream_gene_variant
CESC-US101316981413169814single base substitutionGTmissense_variantA432S1294G>T
CESC-US101316981413169814single base substitutionGTmissense_variantA438S1312G>T
CESC-US101316981413169814single base substitutionGTupstream_gene_variant
CLLE-ES101314417013144170single base substitutionCTintron_variant
CLLE-ES101315610413156104single base substitutionCAdownstream_gene_variant
CLLE-ES101315610413156104single base substitutionCAintron_variant
CLLE-ES101315610413156104single base substitutionCAupstream_gene_variant
CLLE-ES101315981413159814single base substitutionCAdownstream_gene_variant
CLLE-ES101315981413159814single base substitutionCAintron_variant
CLLE-ES101316098113160981single base substitutionAGdownstream_gene_variant
CLLE-ES101316098113160981single base substitutionAGsynonymous_variantL234L702A>G
CLLE-ES101316098113160981single base substitutionAGsynonymous_variantL240L720A>G
CLLE-ES101316098113160981single base substitutionAGsynonymous_variantL55L165A>G
CLLE-ES101316595613165956single base substitutionATdownstream_gene_variant
CLLE-ES101316595613165956single base substitutionATintron_variant
CLLE-ES101318107913181079single base substitutionCTdownstream_gene_variant
COAD-US101315116613151166single base substitutionGT5_prime_UTR_variant
COAD-US101315116613151166single base substitutionGTexon_variant
COAD-US101315116613151166single base substitutionGTmissense_variantS15I44G>T
COAD-US101315116613151166single base substitutionGTupstream_gene_variant
COAD-US101315119113151191insertion of <=200bp-C5_prime_UTR_variant
COAD-US101315119113151191insertion of <=200bp-Cexon_variant
COAD-US101315119113151191insertion of <=200bp-Cframeshift_variantG23G?
COAD-US101315119113151191insertion of <=200bp-Cupstream_gene_variant
COAD-US101315119213151192deletion of <=200bpC-5_prime_UTR_variant
COAD-US101315119213151192deletion of <=200bpC-exon_variant
COAD-US101315119213151192deletion of <=200bpC-frameshift_variantP24
COAD-US101315119213151192deletion of <=200bpC-upstream_gene_variant
COAD-US101315453813154538single base substitutionCTdownstream_gene_variant
COAD-US101315453813154538single base substitutionCTexon_variant
COAD-US101315453813154538single base substitutionCTmissense_variantA152V455C>T
COAD-US101315453813154538single base substitutionCTmissense_variantA95V284C>T
COAD-US101315453813154538single base substitutionCTupstream_gene_variant
COAD-US101316093913160939single base substitutionCTdownstream_gene_variant
COAD-US101316093913160939single base substitutionCTexon_variant
COAD-US101316093913160939single base substitutionCTsynonymous_variantF220F660C>T
COAD-US101316093913160939single base substitutionCTsynonymous_variantF226F678C>T
COAD-US101316093913160939single base substitutionCTsynonymous_variantF41F123C>T
COAD-US101316751513167515single base substitutionGTdownstream_gene_variant
COAD-US101316751513167515single base substitutionGTstop_gainedE360*1078G>T
COAD-US101316751513167515single base substitutionGTstop_gainedE366*1096G>T
COAD-US101317418313174183single base substitutionCTexon_variant
COAD-US101317418313174183single base substitutionCTsynonymous_variantF500F1500C>T
COAD-US101317418313174183single base substitutionCTsynonymous_variantF506F1518C>T
COCA-CN101314078113140781single base substitutionAGupstream_gene_variant
COCA-CN101315249813152498single base substitutionGTdownstream_gene_variant
COCA-CN101315249813152498single base substitutionGTintron_variant
COCA-CN101315249813152498single base substitutionGTupstream_gene_variant
COCA-CN101315446613154466single base substitutionAGdownstream_gene_variant
COCA-CN101315446613154466single base substitutionAGexon_variant
COCA-CN101315446613154466single base substitutionAGmissense_variantD128G383A>G
COCA-CN101315446613154466single base substitutionAGmissense_variantD71G212A>G
COCA-CN101315446613154466single base substitutionAGupstream_gene_variant
COCA-CN101316198613161986single base substitutionTCdownstream_gene_variant
COCA-CN101316198613161986single base substitutionTCintron_variant
COCA-CN101316592613165926single base substitutionCAdownstream_gene_variant
COCA-CN101316592613165926single base substitutionCAintron_variant
COCA-CN101316600413166004single base substitutionGAdownstream_gene_variant
COCA-CN101316600413166004single base substitutionGAmissense_variantE292K874G>A
COCA-CN101316600413166004single base substitutionGAmissense_variantE298K892G>A
COCA-CN101316786013167860single base substitutionGTdownstream_gene_variant
COCA-CN101316786013167860single base substitutionGTintron_variant
COCA-CN101316790713167907single base substitutionTGdownstream_gene_variant
COCA-CN101316790713167907single base substitutionTGintron_variant
COCA-CN101316828413168284single base substitutionTCdownstream_gene_variant
COCA-CN101316828413168284single base substitutionTCintron_variant
COCA-CN101317553713175537single base substitutionCTexon_variant
COCA-CN101317553713175537single base substitutionCTmissense_variantA517V1550C>T
COCA-CN101317553713175537single base substitutionCTmissense_variantA523V1568C>T
COCA-CN101317568213175682single base substitutionACintron_variant
EOPC-DE101314340213143402single base substitutionCTintron_variant
EOPC-DE101315024913150249single base substitutionGC5_prime_UTR_variant
EOPC-DE101315024913150249single base substitutionGCintron_variant
EOPC-DE101315024913150249single base substitutionGCupstream_gene_variant
ESAD-UK101313658713136587single base substitutionGAupstream_gene_variant
ESAD-UK101313879513138795single base substitutionGTupstream_gene_variant
ESAD-UK101314307313143073single base substitutionGCintron_variant
ESAD-UK101314488413144884single base substitutionAGintron_variant
ESAD-UK101314523013145230single base substitutionGCintron_variant
ESAD-UK101314557713145577single base substitutionGCintron_variant
ESAD-UK101314564113145641single base substitutionCGintron_variant
ESAD-UK101314660313146603single base substitutionCAintron_variant
ESAD-UK101314900313149003single base substitutionCTintron_variant
ESAD-UK101315005613150056single base substitutionTCintron_variant
ESAD-UK101315005613150056single base substitutionTCupstream_gene_variant
ESAD-UK101315230113152301single base substitutionTCdownstream_gene_variant
ESAD-UK101315230113152301single base substitutionTCintron_variant
ESAD-UK101315230113152301single base substitutionTCmissense_variantM65T194T>C
ESAD-UK101315230113152301single base substitutionTCmissense_variantM8T23T>C
ESAD-UK101315230113152301single base substitutionTCupstream_gene_variant
ESAD-UK101315239413152394single base substitutionGAdownstream_gene_variant
ESAD-UK101315239413152394single base substitutionGAintron_variant
ESAD-UK101315239413152394single base substitutionGAmissense_variantR39H116G>A
ESAD-UK101315239413152394single base substitutionGAmissense_variantR96H287G>A
ESAD-UK101315239413152394single base substitutionGAupstream_gene_variant
ESAD-UK101315451013154510single base substitutionCAdownstream_gene_variant
ESAD-UK101315451013154510single base substitutionCAexon_variant
ESAD-UK101315451013154510single base substitutionCAmissense_variantL143I427C>A
ESAD-UK101315451013154510single base substitutionCAmissense_variantL86I256C>A
ESAD-UK101315451013154510single base substitutionCAupstream_gene_variant
ESAD-UK101315542013155420single base substitutionTCdownstream_gene_variant
ESAD-UK101315542013155420single base substitutionTCintron_variant
ESAD-UK101315542013155420single base substitutionTCupstream_gene_variant
ESAD-UK101315572713155727single base substitutionGAdownstream_gene_variant
ESAD-UK101315572713155727single base substitutionGAintron_variant
ESAD-UK101315572713155727single base substitutionGAupstream_gene_variant
ESAD-UK101315608913156089single base substitutionGAdownstream_gene_variant
ESAD-UK101315608913156089single base substitutionGAintron_variant
ESAD-UK101315608913156089single base substitutionGAupstream_gene_variant
ESAD-UK101316384013163840single base substitutionGCdownstream_gene_variant
ESAD-UK101316384013163840single base substitutionGCintron_variant
ESAD-UK101316437213164372single base substitutionTAdownstream_gene_variant
ESAD-UK101316437213164372single base substitutionTAintron_variant
ESAD-UK101316462913164629single base substitutionTGdownstream_gene_variant
ESAD-UK101316462913164629single base substitutionTGintron_variant
ESAD-UK101316528013165280single base substitutionACdownstream_gene_variant
ESAD-UK101316528013165280single base substitutionACintron_variant
ESAD-UK101316685313166853single base substitutionAGdownstream_gene_variant
ESAD-UK101316685313166853single base substitutionAGintron_variant
ESAD-UK101316688213166882single base substitutionTAdownstream_gene_variant
ESAD-UK101316688213166882single base substitutionTAintron_variant
ESAD-UK101316779113167791deletion of <=200bpT-downstream_gene_variant
ESAD-UK101316779113167791deletion of <=200bpT-intron_variant
ESAD-UK101316889113168891single base substitutionGAdownstream_gene_variant
ESAD-UK101316889113168891single base substitutionGAintron_variant
ESAD-UK101316889113168891single base substitutionGAupstream_gene_variant
ESAD-UK101316944413169444insertion of <=200bp-Tdownstream_gene_variant
ESAD-UK101316944413169444insertion of <=200bp-Tintron_variant
ESAD-UK101316944413169444insertion of <=200bp-Tupstream_gene_variant
ESAD-UK101317045613170456single base substitutionTGintron_variant
ESAD-UK101317045613170456single base substitutionTGupstream_gene_variant
ESAD-UK101317325813173258single base substitutionCTintron_variant
ESAD-UK101317325813173258single base substitutionCTupstream_gene_variant
ESAD-UK101317545513175455single base substitutionTGintron_variant
ESAD-UK101317558413175584single base substitutionGAsplice_region_variant
ESAD-UK101317784213177842single base substitutionTCintron_variant
ESAD-UK101317877513178775single base substitutionGAexon_variant
ESAD-UK101317877513178775single base substitutionGAmissense_variantR542Q1625G>A
ESAD-UK101317877513178775single base substitutionGAmissense_variantR548Q1643G>A
ESAD-UK101318109513181095single base substitutionCAdownstream_gene_variant
ESAD-UK101318266313182663single base substitutionCAdownstream_gene_variant
ESAD-UK101318447913184479single base substitutionGAdownstream_gene_variant
ESCA-CN101316986213169862single base substitutionCTdownstream_gene_variant
ESCA-CN101316986213169862single base substitutionCTstop_gainedQ448*1342C>T
ESCA-CN101316986213169862single base substitutionCTstop_gainedQ454*1360C>T
ESCA-CN101316986213169862single base substitutionCTupstream_gene_variant
KIRP-US101316099413160994single base substitutionCTdownstream_gene_variant
KIRP-US101316099413160994single base substitutionCTstop_gainedQ239*715C>T
KIRP-US101316099413160994single base substitutionCTstop_gainedQ245*733C>T
KIRP-US101316099413160994single base substitutionCTstop_gainedQ60*178C>T
LAML-KR101315936013159360single base substitutionAGdownstream_gene_variant
LAML-KR101315936013159360single base substitutionAGintron_variant
LICA-FR101313833513138335single base substitutionCAupstream_gene_variant
LICA-FR101314804713148047single base substitutionTGintron_variant
LICA-FR101315990813159908single base substitutionGTdownstream_gene_variant
LICA-FR101315990813159908single base substitutionGTintron_variant
LICA-FR101317097713170977insertion of <=200bp-ATCAintron_variant
LICA-FR101317097713170977insertion of <=200bp-ATCAupstream_gene_variant
LINC-JP101313678813136788single base substitutionCTupstream_gene_variant
LINC-JP101313706413137064single base substitutionTCupstream_gene_variant
LINC-JP101315266413152664single base substitutionTAdownstream_gene_variant
LINC-JP101315266413152664single base substitutionTAintron_variant
LINC-JP101315266413152664single base substitutionTAupstream_gene_variant
LINC-JP101315808313158083single base substitutionGTintron_variant
LINC-JP101315808313158083single base substitutionGTupstream_gene_variant
LINC-JP101315878313158783single base substitutionCGdownstream_gene_variant
LINC-JP101315878313158783single base substitutionCGintron_variant
LINC-JP101315941713159417deletion of <=200bpT-downstream_gene_variant
LINC-JP101315941713159417deletion of <=200bpT-intron_variant
LINC-JP101315943813159438single base substitutionAGdownstream_gene_variant
LINC-JP101315943813159438single base substitutionAGintron_variant
LINC-JP101316087313160873single base substitutionCTdownstream_gene_variant
LINC-JP101316087313160873single base substitutionCTintron_variant
LINC-JP101316501613165016single base substitutionAG3_prime_UTR_variant
LINC-JP101316501613165016single base substitutionAGdownstream_gene_variant
LINC-JP101316501613165016single base substitutionAGintron_variant
LINC-JP101317383213173832single base substitutionAGintron_variant
LINC-JP101317393613173936single base substitutionCGintron_variant
LINC-JP101317426813174268single base substitutionCTintron_variant
LINC-JP101317536713175367single base substitutionAGintron_variant
LINC-JP101317583013175830single base substitutionATintron_variant
LINC-JP101318206313182063single base substitutionGAdownstream_gene_variant
LIRI-JP101313692913136929single base substitutionAGupstream_gene_variant
LIRI-JP101313840513138405single base substitutionGAupstream_gene_variant
LIRI-JP101313868113138681single base substitutionCAupstream_gene_variant
LIRI-JP101314273513142735single base substitutionGAintron_variant
LIRI-JP101314434513144345single base substitutionCAintron_variant
LIRI-JP101314435713144357single base substitutionGAintron_variant
LIRI-JP101314844413148444single base substitutionGAintron_variant
LIRI-JP101315186813151868single base substitutionAGdownstream_gene_variant
LIRI-JP101315186813151868single base substitutionAGintron_variant
LIRI-JP101315186813151868single base substitutionAGupstream_gene_variant
LIRI-JP101315292213152922single base substitutionACdownstream_gene_variant
LIRI-JP101315292213152922single base substitutionACintron_variant
LIRI-JP101315292213152922single base substitutionACupstream_gene_variant
LIRI-JP101315421913154219single base substitutionTCdownstream_gene_variant
LIRI-JP101315421913154219single base substitutionTCintron_variant
LIRI-JP101315421913154219single base substitutionTCupstream_gene_variant
LIRI-JP101315448813154488single base substitutionAGdownstream_gene_variant
LIRI-JP101315448813154488single base substitutionAGexon_variant
LIRI-JP101315448813154488single base substitutionAGsynonymous_variantE135E405A>G
LIRI-JP101315448813154488single base substitutionAGsynonymous_variantE78E234A>G
LIRI-JP101315448813154488single base substitutionAGupstream_gene_variant
LIRI-JP101315634113156341single base substitutionGAdownstream_gene_variant
LIRI-JP101315634113156341single base substitutionGAintron_variant
LIRI-JP101315634113156341single base substitutionGAupstream_gene_variant
LIRI-JP101315834913158349single base substitutionAGdownstream_gene_variant
LIRI-JP101315834913158349single base substitutionAGexon_variant
LIRI-JP101315834913158349single base substitutionAGintron_variant
LIRI-JP101315842013158420single base substitutionTCdownstream_gene_variant
LIRI-JP101315842013158420single base substitutionTCexon_variant
LIRI-JP101315842013158420single base substitutionTCintron_variant
LIRI-JP101315858113158597deletion of <=200bpACCTCCAGCAGATGAAA-downstream_gene_variant
LIRI-JP101315858113158597deletion of <=200bpACCTCCAGCAGATGAAA-intron_variant
LIRI-JP101316033413160334single base substitutionAGdownstream_gene_variant
LIRI-JP101316033413160334single base substitutionAGintron_variant
LIRI-JP101316162413161624single base substitutionGAdownstream_gene_variant
LIRI-JP101316162413161624single base substitutionGAintron_variant
LIRI-JP101316165913161659single base substitutionAGdownstream_gene_variant
LIRI-JP101316165913161659single base substitutionAGintron_variant
LIRI-JP101316368713163687single base substitutionTCdownstream_gene_variant
LIRI-JP101316368713163687single base substitutionTCintron_variant
LIRI-JP101316564213165642single base substitutionGAdownstream_gene_variant
LIRI-JP101316564213165642single base substitutionGAintron_variant
LIRI-JP101317134913171349single base substitutionCGintron_variant
LIRI-JP101317134913171349single base substitutionCGupstream_gene_variant
LIRI-JP101317175613171756single base substitutionAGintron_variant
LIRI-JP101317175613171756single base substitutionAGupstream_gene_variant
LIRI-JP101317233813172338single base substitutionTCintron_variant
LIRI-JP101317233813172338single base substitutionTCupstream_gene_variant
LIRI-JP101317317913173179single base substitutionGTintron_variant
LIRI-JP101317317913173179single base substitutionGTupstream_gene_variant
LIRI-JP101317370313173703single base substitutionAGintron_variant
LIRI-JP101317383213173832single base substitutionAGintron_variant
LIRI-JP101317608013176080single base substitutionATintron_variant
LIRI-JP101317633313176333single base substitutionAGintron_variant
LIRI-JP101317828713178287single base substitutionAGintron_variant
LIRI-JP101317863413178634single base substitutionGAintron_variant
LIRI-JP101317898613178986single base substitutionAG3_prime_UTR_variant
LIRI-JP101317898613178986single base substitutionAGdownstream_gene_variant
LIRI-JP101318001313180013single base substitutionAG3_prime_UTR_variant
LIRI-JP101318001313180013single base substitutionAGdownstream_gene_variant
LIRI-JP101318449813184498single base substitutionTCdownstream_gene_variant
LIRI-JP101318477513184775single base substitutionAGdownstream_gene_variant
LIRI-JP101318485413184854single base substitutionCAdownstream_gene_variant
LIRI-JP101318527913185279single base substitutionCTdownstream_gene_variant
LUSC-KR101315026513150265single base substitutionGA5_prime_UTR_variant
LUSC-KR101315026513150265single base substitutionGAintron_variant
LUSC-KR101315026513150265single base substitutionGAupstream_gene_variant
LUSC-KR101315085513150855single base substitutionCGintron_variant
LUSC-KR101315085513150855single base substitutionCGupstream_gene_variant
LUSC-KR101316306213163062single base substitutionAGdownstream_gene_variant
LUSC-KR101316306213163062single base substitutionAGintron_variant
LUSC-KR101316394913163949single base substitutionTCdownstream_gene_variant
LUSC-KR101316394913163949single base substitutionTCintron_variant
LUSC-KR101316729913167299single base substitutionCTdownstream_gene_variant
LUSC-KR101316729913167299single base substitutionCTintron_variant
LUSC-KR101316760913167609single base substitutionGTdownstream_gene_variant
LUSC-KR101316760913167609single base substitutionGTintron_variant
LUSC-KR101316761013167610single base substitutionGTdownstream_gene_variant
LUSC-KR101316761013167610single base substitutionGTintron_variant
LUSC-KR101316834313168343single base substitutionCGdownstream_gene_variant
LUSC-KR101316834313168343single base substitutionCGintron_variant
LUSC-KR101316834313168343single base substitutionCGupstream_gene_variant
LUSC-KR101316834713168347single base substitutionCTdownstream_gene_variant
LUSC-KR101316834713168347single base substitutionCTintron_variant
LUSC-KR101316834713168347single base substitutionCTupstream_gene_variant
LUSC-KR101316845513168455single base substitutionTCdownstream_gene_variant
LUSC-KR101316845513168455single base substitutionTCintron_variant
LUSC-KR101316845513168455single base substitutionTCupstream_gene_variant
LUSC-KR101316848213168482single base substitutionTGdownstream_gene_variant
LUSC-KR101316848213168482single base substitutionTGintron_variant
LUSC-KR101316848213168482single base substitutionTGupstream_gene_variant
LUSC-KR101316942613169426single base substitutionGAdownstream_gene_variant
LUSC-KR101316942613169426single base substitutionGAintron_variant
LUSC-KR101316942613169426single base substitutionGAupstream_gene_variant
LUSC-KR101317426913174269single base substitutionGAintron_variant
LUSC-KR101317555413175554single base substitutionGTexon_variant
LUSC-KR101317555413175554single base substitutionGTmissense_variantD523Y1567G>T
LUSC-KR101317555413175554single base substitutionGTmissense_variantD529Y1585G>T
LUSC-KR101317869713178697single base substitutionCAintron_variant
LUSC-KR101318091213180912single base substitutionTAdownstream_gene_variant
LUSC-KR101318405113184051single base substitutionGAdownstream_gene_variant
LUSC-US101316800213168002single base substitutionACdownstream_gene_variant
LUSC-US101316800213168002single base substitutionACmissense_variantN396T1187A>C
LUSC-US101316800213168002single base substitutionACmissense_variantN402T1205A>C
MALY-DE101313854413138544single base substitutionGAupstream_gene_variant
MALY-DE101314052613140526single base substitutionGAupstream_gene_variant
MALY-DE101314069713140697single base substitutionATupstream_gene_variant
MALY-DE101314340213143402single base substitutionCTintron_variant
MALY-DE101315448813154507deletion of <=200bpAGCGGAGCAGGAAAAGGACC-downstream_gene_variant
MALY-DE101315448813154507deletion of <=200bpAGCGGAGCAGGAAAAGGACC-exon_variant
MALY-DE101315448813154507deletion of <=200bpAGCGGAGCAGGAAAAGGACC-frameshift_variantEAEQEKDQ135
MALY-DE101315448813154507deletion of <=200bpAGCGGAGCAGGAAAAGGACC-frameshift_variantEAEQEKDQ78
MALY-DE101315448813154507deletion of <=200bpAGCGGAGCAGGAAAAGGACC-upstream_gene_variant
MALY-DE101315952113159521single base substitutionCTdownstream_gene_variant
MALY-DE101315952113159521single base substitutionCTintron_variant
MALY-DE101316120313161203deletion of <=200bpT-downstream_gene_variant
MALY-DE101316120313161203deletion of <=200bpT-intron_variant
MALY-DE101316918513169185single base substitutionTGdownstream_gene_variant
MALY-DE101316918513169185single base substitutionTGintron_variant
MALY-DE101316918513169185single base substitutionTGupstream_gene_variant
MALY-DE101317057813170578single base substitutionTGintron_variant
MALY-DE101317057813170578single base substitutionTGupstream_gene_variant
MELA-AU101313666713136667single base substitutionCAupstream_gene_variant
MELA-AU101313677113136771single base substitutionGAupstream_gene_variant
MELA-AU101313679613136796single base substitutionCTupstream_gene_variant
MELA-AU101313688113136881single base substitutionGAupstream_gene_variant
MELA-AU101313716613137166single base substitutionGAupstream_gene_variant
MELA-AU101313717113137171single base substitutionGAupstream_gene_variant
MELA-AU101313721513137215single base substitutionGAupstream_gene_variant
MELA-AU101313784113137841single base substitutionTCupstream_gene_variant
MELA-AU101313790813137908single base substitutionCTupstream_gene_variant
MELA-AU101313851013138510single base substitutionGAupstream_gene_variant
MELA-AU101313851113138511single base substitutionGAupstream_gene_variant
MELA-AU101313876013138760single base substitutionGAupstream_gene_variant
MELA-AU101313885713138857single base substitutionGAupstream_gene_variant
MELA-AU101313893113138932multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU101313933213139332single base substitutionCTupstream_gene_variant
MELA-AU101313970713139707single base substitutionGAupstream_gene_variant
MELA-AU101314066513140665single base substitutionTGupstream_gene_variant
MELA-AU101314203413142034single base substitutionGAintron_variant
MELA-AU101314203413142034single base substitutionGAupstream_gene_variant
MELA-AU101314602413146024single base substitutionCAintron_variant
MELA-AU101314683513146835single base substitutionCTintron_variant
MELA-AU101314807013148070single base substitutionATintron_variant
MELA-AU101314825213148253multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU101314887013148870single base substitutionTAintron_variant
MELA-AU101314896213148962single base substitutionAGintron_variant
MELA-AU101314913913149139single base substitutionCTintron_variant
MELA-AU101314929813149299multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU101314984413149844single base substitutionAGintron_variant
MELA-AU101314984413149844single base substitutionAGupstream_gene_variant
MELA-AU101315021413150215multiple base substitution (>=2bp and <=200bp)CCTT5_prime_UTR_variant
MELA-AU101315021413150215multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU101315021413150215multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU101315138413151384single base substitutionCTintron_variant
MELA-AU101315138413151384single base substitutionCTupstream_gene_variant
MELA-AU101315195313151953single base substitutionCTdownstream_gene_variant
MELA-AU101315195313151953single base substitutionCTintron_variant
MELA-AU101315195313151953single base substitutionCTupstream_gene_variant
MELA-AU101315291313152913single base substitutionCTdownstream_gene_variant
MELA-AU101315291313152913single base substitutionCTintron_variant
MELA-AU101315291313152913single base substitutionCTupstream_gene_variant
MELA-AU101315331713153317single base substitutionTAdownstream_gene_variant
MELA-AU101315331713153317single base substitutionTAintron_variant
MELA-AU101315331713153317single base substitutionTAupstream_gene_variant
MELA-AU101315338413153384single base substitutionCTdownstream_gene_variant
MELA-AU101315338413153384single base substitutionCTintron_variant
MELA-AU101315338413153384single base substitutionCTupstream_gene_variant
MELA-AU101315341213153412single base substitutionCTdownstream_gene_variant
MELA-AU101315341213153412single base substitutionCTintron_variant
MELA-AU101315341213153412single base substitutionCTupstream_gene_variant
MELA-AU101315384313153843single base substitutionTGdownstream_gene_variant
MELA-AU101315384313153843single base substitutionTGintron_variant
MELA-AU101315384313153843single base substitutionTGupstream_gene_variant
MELA-AU101315467213154672single base substitutionATdownstream_gene_variant
MELA-AU101315467213154672single base substitutionATintron_variant
MELA-AU101315467213154672single base substitutionATupstream_gene_variant
MELA-AU101315509113155091single base substitutionGAdownstream_gene_variant
MELA-AU101315509113155091single base substitutionGAintron_variant
MELA-AU101315509113155091single base substitutionGAupstream_gene_variant
MELA-AU101315511013155110single base substitutionCTdownstream_gene_variant
MELA-AU101315511013155110single base substitutionCTintron_variant
MELA-AU101315511013155110single base substitutionCTupstream_gene_variant
MELA-AU101315520413155204single base substitutionATdownstream_gene_variant
MELA-AU101315520413155204single base substitutionATintron_variant
MELA-AU101315520413155204single base substitutionATupstream_gene_variant
MELA-AU101315583813155838single base substitutionCTdownstream_gene_variant
MELA-AU101315583813155838single base substitutionCTintron_variant
MELA-AU101315583813155838single base substitutionCTupstream_gene_variant
MELA-AU101315598813155988single base substitutionCTdownstream_gene_variant
MELA-AU101315598813155988single base substitutionCTintron_variant
MELA-AU101315598813155988single base substitutionCTupstream_gene_variant
MELA-AU101315603613156036single base substitutionCTdownstream_gene_variant
MELA-AU101315603613156036single base substitutionCTintron_variant
MELA-AU101315603613156036single base substitutionCTupstream_gene_variant
MELA-AU101315608913156089single base substitutionGAdownstream_gene_variant
MELA-AU101315608913156089single base substitutionGAintron_variant
MELA-AU101315608913156089single base substitutionGAupstream_gene_variant
MELA-AU101315610413156105multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU101315610413156105multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU101315610413156105multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU101315807113158071insertion of <=200bp-AGGGCGTGintron_variant
MELA-AU101315807113158071insertion of <=200bp-AGGGCGTGupstream_gene_variant
MELA-AU101315976713159767single base substitutionCTdownstream_gene_variant
MELA-AU101315976713159767single base substitutionCTintron_variant
MELA-AU101316139713161397single base substitutionCTdownstream_gene_variant
MELA-AU101316139713161397single base substitutionCTintron_variant
MELA-AU101316199113161991single base substitutionTCdownstream_gene_variant
MELA-AU101316199113161991single base substitutionTCintron_variant
MELA-AU101316201413162014single base substitutionGAdownstream_gene_variant
MELA-AU101316201413162014single base substitutionGAintron_variant
MELA-AU101316238813162388single base substitutionCTdownstream_gene_variant
MELA-AU101316238813162388single base substitutionCTintron_variant
MELA-AU101316260113162601single base substitutionCTdownstream_gene_variant
MELA-AU101316260113162601single base substitutionCTintron_variant
MELA-AU101316271413162714single base substitutionCTdownstream_gene_variant
MELA-AU101316271413162714single base substitutionCTintron_variant
MELA-AU101316305213163052single base substitutionCTdownstream_gene_variant
MELA-AU101316305213163052single base substitutionCTintron_variant
MELA-AU101316324613163246single base substitutionAGdownstream_gene_variant
MELA-AU101316324613163246single base substitutionAGintron_variant
MELA-AU101316360013163600single base substitutionCTdownstream_gene_variant
MELA-AU101316360013163600single base substitutionCTintron_variant
MELA-AU101316360013163601multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU101316360013163601multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU101316377513163775single base substitutionCTdownstream_gene_variant
MELA-AU101316377513163775single base substitutionCTintron_variant
MELA-AU101316509513165095single base substitutionTC3_prime_UTR_variant
MELA-AU101316509513165095single base substitutionTCdownstream_gene_variant
MELA-AU101316509513165095single base substitutionTCintron_variant
MELA-AU101316614113166141single base substitutionTAdownstream_gene_variant
MELA-AU101316614113166141single base substitutionTAintron_variant
MELA-AU101316619313166193single base substitutionATdownstream_gene_variant
MELA-AU101316619313166193single base substitutionATintron_variant
MELA-AU101316623113166231single base substitutionAGdownstream_gene_variant
MELA-AU101316623113166231single base substitutionAGintron_variant
MELA-AU101316654713166547single base substitutionTAdownstream_gene_variant
MELA-AU101316654713166547single base substitutionTAintron_variant
MELA-AU101316700413167004single base substitutionCTdownstream_gene_variant
MELA-AU101316700413167004single base substitutionCTintron_variant
MELA-AU101316889413168894single base substitutionCTdownstream_gene_variant
MELA-AU101316889413168894single base substitutionCTintron_variant
MELA-AU101316889413168894single base substitutionCTupstream_gene_variant
MELA-AU101316915613169174deletion of <=200bpTTTTCTTTTAAAGAGGAGG-downstream_gene_variant
MELA-AU101316915613169174deletion of <=200bpTTTTCTTTTAAAGAGGAGG-intron_variant
MELA-AU101316915613169174deletion of <=200bpTTTTCTTTTAAAGAGGAGG-upstream_gene_variant
MELA-AU101316951113169511single base substitutionCTdownstream_gene_variant
MELA-AU101316951113169511single base substitutionCTintron_variant
MELA-AU101316951113169511single base substitutionCTupstream_gene_variant
MELA-AU101316979813169798single base substitutionGAdownstream_gene_variant
MELA-AU101316979813169798single base substitutionGAsynonymous_variantL426L1278G>A
MELA-AU101316979813169798single base substitutionGAsynonymous_variantL432L1296G>A
MELA-AU101316979813169798single base substitutionGAupstream_gene_variant
MELA-AU101317041513170415single base substitutionCTintron_variant
MELA-AU101317041513170415single base substitutionCTupstream_gene_variant
MELA-AU101317054213170542single base substitutionTCintron_variant
MELA-AU101317054213170542single base substitutionTCupstream_gene_variant
MELA-AU101317093013170930single base substitutionGCintron_variant
MELA-AU101317093013170930single base substitutionGCupstream_gene_variant
MELA-AU101317144613171446single base substitutionGAintron_variant
MELA-AU101317144613171446single base substitutionGAupstream_gene_variant
MELA-AU101317148613171486single base substitutionGTintron_variant
MELA-AU101317148613171486single base substitutionGTupstream_gene_variant
MELA-AU101317219113172192multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU101317219113172192multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU101317234713172347single base substitutionCTintron_variant
MELA-AU101317234713172347single base substitutionCTupstream_gene_variant
MELA-AU101317298613172986single base substitutionCTintron_variant
MELA-AU101317298613172986single base substitutionCTupstream_gene_variant
MELA-AU101317422113174221single base substitutionCTintron_variant
MELA-AU101317453013174530single base substitutionTAintron_variant
MELA-AU101317498913174989single base substitutionTAintron_variant
MELA-AU101317499113174991single base substitutionCTintron_variant
MELA-AU101317505513175055single base substitutionTCintron_variant
MELA-AU101317577313175773single base substitutionCTintron_variant
MELA-AU101317583913175839single base substitutionCTintron_variant
MELA-AU101317618913176189single base substitutionCTintron_variant
MELA-AU101317623213176232single base substitutionCTintron_variant
MELA-AU101317901413179014single base substitutionTC3_prime_UTR_variant
MELA-AU101317901413179014single base substitutionTCdownstream_gene_variant
MELA-AU101317954313179543single base substitutionAG3_prime_UTR_variant
MELA-AU101317954313179543single base substitutionAGdownstream_gene_variant
MELA-AU101318031413180314single base substitutionCTdownstream_gene_variant
MELA-AU101318059013180590single base substitutionATdownstream_gene_variant
MELA-AU101318062413180624single base substitutionGAdownstream_gene_variant
MELA-AU101318232913182329single base substitutionTCdownstream_gene_variant
MELA-AU101318255513182555single base substitutionCTdownstream_gene_variant
MELA-AU101318288313182883single base substitutionTCdownstream_gene_variant
MELA-AU101318350813183508single base substitutionCTdownstream_gene_variant
MELA-AU101318352313183523single base substitutionCTdownstream_gene_variant
MELA-AU101318378513183785single base substitutionCTdownstream_gene_variant
MELA-AU101318446413184464single base substitutionATdownstream_gene_variant
MELA-AU101318488713184887single base substitutionCTdownstream_gene_variant
ORCA-IN101314430513144305single base substitutionGCintron_variant
ORCA-IN101316554313165543single base substitutionGAdownstream_gene_variant
ORCA-IN101316554313165543single base substitutionGAintron_variant
OV-AU101314053413140534single base substitutionCTupstream_gene_variant
OV-AU101314109213141092single base substitutionACupstream_gene_variant
OV-AU101315034213150342single base substitutionTAintron_variant
OV-AU101315034213150342single base substitutionTAupstream_gene_variant
OV-AU101315037013150370single base substitutionTCintron_variant
OV-AU101315037013150370single base substitutionTCupstream_gene_variant
OV-AU101315157913151579single base substitutionAGexon_variant
OV-AU101315157913151579single base substitutionAGintron_variant
OV-AU101315157913151579single base substitutionAGupstream_gene_variant
OV-AU101315284813152848single base substitutionATdownstream_gene_variant
OV-AU101315284813152848single base substitutionATintron_variant
OV-AU101315284813152848single base substitutionATupstream_gene_variant
OV-AU101315440213154402single base substitutionGCdownstream_gene_variant
OV-AU101315440213154402single base substitutionGCintron_variant
OV-AU101315440213154402single base substitutionGCupstream_gene_variant
OV-AU101315749213157492single base substitutionTAintron_variant
OV-AU101315749213157492single base substitutionTAupstream_gene_variant
OV-AU101316035513160355single base substitutionGAdownstream_gene_variant
OV-AU101316035513160355single base substitutionGAintron_variant
OV-AU101316716213167162single base substitutionATdownstream_gene_variant
OV-AU101316716213167162single base substitutionATintron_variant
PACA-AU101313826113138261single base substitutionGAupstream_gene_variant
PACA-AU101314648813146488single base substitutionGAintron_variant
PACA-AU101315231013152310single base substitutionGAdownstream_gene_variant
PACA-AU101315231013152310single base substitutionGAintron_variant
PACA-AU101315231013152310single base substitutionGAmissense_variantR11K32G>A
PACA-AU101315231013152310single base substitutionGAmissense_variantR68K203G>A
PACA-AU101315231013152310single base substitutionGAupstream_gene_variant
PACA-AU101315648313156483single base substitutionGAdownstream_gene_variant
PACA-AU101315648313156483single base substitutionGAintron_variant
PACA-AU101315648313156483single base substitutionGAupstream_gene_variant
PACA-AU101315684013156840single base substitutionAGintron_variant
PACA-AU101315684013156840single base substitutionAGupstream_gene_variant
PACA-AU101316416913164169deletion of <=200bpT-downstream_gene_variant
PACA-AU101316416913164169deletion of <=200bpT-intron_variant
PACA-AU101316971413169714single base substitutionACdownstream_gene_variant
PACA-AU101316971413169714single base substitutionACintron_variant
PACA-AU101316971413169714single base substitutionACupstream_gene_variant
PACA-AU101317151013171510single base substitutionGAintron_variant
PACA-AU101317151013171510single base substitutionGAupstream_gene_variant
PACA-AU101317244413172444single base substitutionATintron_variant
PACA-AU101317244413172444single base substitutionATupstream_gene_variant
PACA-AU101318303913183039single base substitutionTCdownstream_gene_variant
PACA-AU101318389413183894single base substitutionTAdownstream_gene_variant
PACA-AU101318510313185103single base substitutionGTdownstream_gene_variant
PACA-CA101313761113137611insertion of <=200bp-Cupstream_gene_variant
PACA-CA101314001013140010single base substitutionTCupstream_gene_variant
PACA-CA101314094313140943single base substitutionCTupstream_gene_variant
PACA-CA101314362513143625single base substitutionATintron_variant
PACA-CA101314986313149863single base substitutionTAintron_variant
PACA-CA101314986313149863single base substitutionTAupstream_gene_variant
PACA-CA101315265613152656single base substitutionGAdownstream_gene_variant
PACA-CA101315265613152656single base substitutionGAintron_variant
PACA-CA101315265613152656single base substitutionGAupstream_gene_variant
PACA-CA101315271813152718single base substitutionGAdownstream_gene_variant
PACA-CA101315271813152718single base substitutionGAintron_variant
PACA-CA101315271813152718single base substitutionGAupstream_gene_variant
PACA-CA101315683713156837insertion of <=200bp-CGintron_variant
PACA-CA101315683713156837insertion of <=200bp-CGupstream_gene_variant
PACA-CA101315683813156838insertion of <=200bp-Aintron_variant
PACA-CA101315683813156838insertion of <=200bp-Aupstream_gene_variant
PACA-CA101315915913159159single base substitutionCTdownstream_gene_variant
PACA-CA101315915913159159single base substitutionCTintron_variant
PACA-CA101316216213162162single base substitutionGTdownstream_gene_variant
PACA-CA101316216213162162single base substitutionGTintron_variant
PACA-CA101317114613171146single base substitutionAGintron_variant
PACA-CA101317114613171146single base substitutionAGupstream_gene_variant
PACA-CA101317137213171372single base substitutionGTintron_variant
PACA-CA101317137213171372single base substitutionGTupstream_gene_variant
PACA-CA101317511413175114single base substitutionCTintron_variant
PACA-CA101317610513176105single base substitutionGAintron_variant
PACA-CA101317819213178192deletion of <=200bpA-intron_variant
PAEN-AU101315150513151505single base substitutionGTexon_variant
PAEN-AU101315150513151505single base substitutionGTintron_variant
PAEN-AU101315150513151505single base substitutionGTupstream_gene_variant
PAEN-IT101315373613153736single base substitutionTCdownstream_gene_variant
PAEN-IT101315373613153736single base substitutionTCintron_variant
PAEN-IT101315373613153736single base substitutionTCupstream_gene_variant
PAEN-IT101317861713178617single base substitutionTCintron_variant
PBCA-DE101313844813138448single base substitutionATupstream_gene_variant
PBCA-DE101315205713152057single base substitutionCTdownstream_gene_variant
PBCA-DE101315205713152057single base substitutionCTintron_variant
PBCA-DE101315205713152057single base substitutionCTupstream_gene_variant
PBCA-DE101316243813162438single base substitutionCGdownstream_gene_variant
PBCA-DE101316243813162438single base substitutionCGintron_variant
PBCA-DE101316924513169245single base substitutionGAdownstream_gene_variant
PBCA-DE101316924513169245single base substitutionGAintron_variant
PBCA-DE101316924513169245single base substitutionGAupstream_gene_variant
PRAD-CA101315399313153993single base substitutionGAdownstream_gene_variant
PRAD-CA101315399313153993single base substitutionGAintron_variant
PRAD-CA101315399313153993single base substitutionGAupstream_gene_variant
PRAD-CA101316212813162128single base substitutionGAdownstream_gene_variant
PRAD-CA101316212813162128single base substitutionGAintron_variant
PRAD-CA101316212813162128single base substitutionGCdownstream_gene_variant
PRAD-CA101316212813162128single base substitutionGCintron_variant
PRAD-CA101316306213163062single base substitutionAGdownstream_gene_variant
PRAD-CA101316306213163062single base substitutionAGintron_variant
PRAD-UK101315696413156999deletion of <=200bpTATATATATTTATATATAGATATATCTATATTTATA-intron_variant
PRAD-UK101315696413156999deletion of <=200bpTATATATATTTATATATAGATATATCTATATTTATA-upstream_gene_variant
PRAD-UK101316337913163379single base substitutionGCdownstream_gene_variant
PRAD-UK101316337913163379single base substitutionGCintron_variant
READ-US101315242213152422single base substitutionGTdownstream_gene_variant
READ-US101315242213152422single base substitutionGTintron_variant
READ-US101315242213152422single base substitutionGTmissense_variantE105D315G>T
READ-US101315242213152422single base substitutionGTmissense_variantE48D144G>T
READ-US101315242213152422single base substitutionGTupstream_gene_variant
READ-US101316093013160930single base substitutionGTdownstream_gene_variant
READ-US101316093013160930single base substitutionGTexon_variant
READ-US101316093013160930single base substitutionGTmissense_variantK217N651G>T
READ-US101316093013160930single base substitutionGTmissense_variantK223N669G>T
READ-US101316093013160930single base substitutionGTmissense_variantK38N114G>T
RECA-EU101316161313161613single base substitutionCGdownstream_gene_variant
RECA-EU101316161313161613single base substitutionCGintron_variant
RECA-EU101316224813162248single base substitutionAGdownstream_gene_variant
RECA-EU101316224813162248single base substitutionAGintron_variant
RECA-EU101316271813162718single base substitutionCTdownstream_gene_variant
RECA-EU101316271813162718single base substitutionCTintron_variant
RECA-EU101316335613163356single base substitutionGAdownstream_gene_variant
RECA-EU101316335613163356single base substitutionGAintron_variant
RECA-EU101316348613163486single base substitutionGCdownstream_gene_variant
RECA-EU101316348613163486single base substitutionGCintron_variant
RECA-EU101316368113163681single base substitutionCTdownstream_gene_variant
RECA-EU101316368113163681single base substitutionCTintron_variant
RECA-EU101318488013184880single base substitutionGAdownstream_gene_variant
SKCA-BR101313717113137171single base substitutionGAupstream_gene_variant
SKCA-BR101314625113146254deletion of <=200bpTTTC-intron_variant
SKCA-BR101314625413146256deletion of <=200bpCTT-intron_variant
SKCA-BR101314938713149388deletion of <=200bpCT-intron_variant
SKCA-BR101315090913150909single base substitutionTCintron_variant
SKCA-BR101315090913150909single base substitutionTCupstream_gene_variant
SKCA-BR101315167113151671insertion of <=200bp-TAdownstream_gene_variant
SKCA-BR101315167113151671insertion of <=200bp-TAintron_variant
SKCA-BR101315167113151671insertion of <=200bp-TAupstream_gene_variant
SKCA-BR101315414113154141single base substitutionGAdownstream_gene_variant
SKCA-BR101315414113154141single base substitutionGAintron_variant
SKCA-BR101315414113154141single base substitutionGAupstream_gene_variant
SKCA-BR101315747013157470single base substitutionAGintron_variant
SKCA-BR101315747013157470single base substitutionAGupstream_gene_variant
SKCA-BR101315830913158309single base substitutionCTexon_variant
SKCA-BR101315830913158309single base substitutionCTmissense_variantP142S424C>T
SKCA-BR101315830913158309single base substitutionCTmissense_variantP14S40C>T
SKCA-BR101315830913158309single base substitutionCTmissense_variantP199S595C>T
SKCA-BR101315846213158462single base substitutionGAdownstream_gene_variant
SKCA-BR101315846213158462single base substitutionGAexon_variant
SKCA-BR101315846213158462single base substitutionGAintron_variant
SKCA-BR101316450213164502single base substitutionTCdownstream_gene_variant
SKCA-BR101316450213164502single base substitutionTCintron_variant
SKCA-BR101316828313168283insertion of <=200bp-CCTTTTTTTdownstream_gene_variant
SKCA-BR101316828313168283insertion of <=200bp-CCTTTTTTTintron_variant
SKCA-BR101316828313168283single base substitutionCTdownstream_gene_variant
SKCA-BR101316828313168283single base substitutionCTintron_variant
SKCA-BR101317323813173238single base substitutionCTintron_variant
SKCA-BR101317323813173238single base substitutionCTupstream_gene_variant
SKCA-BR101317850513178505insertion of <=200bp-CAintron_variant
SKCA-BR101318193813181972deletion of <=200bpCATGACAAGTTGCTTTTTGATTTTAAAATGACTCA-downstream_gene_variant
SKCA-BR101318271113182711single base substitutionCTdownstream_gene_variant
SKCA-BR101318316313183163single base substitutionCTdownstream_gene_variant
SKCA-BR101318382013183820single base substitutionAGdownstream_gene_variant
SKCM-US101315231313152313single base substitutionTGdownstream_gene_variant
SKCM-US101315231313152313single base substitutionTGintron_variant
SKCM-US101315231313152313single base substitutionTGmissense_variantF12C35T>G
SKCM-US101315231313152313single base substitutionTGmissense_variantF69C206T>G
SKCM-US101315231313152313single base substitutionTGupstream_gene_variant
SKCM-US101316742813167428single base substitutionCTdownstream_gene_variant
SKCM-US101316742813167428single base substitutionCTmissense_variantL331F991C>T
SKCM-US101316742813167428single base substitutionCTmissense_variantL337F1009C>T
STAD-US101315119213151192deletion of <=200bpC-5_prime_UTR_variant
STAD-US101315119213151192deletion of <=200bpC-exon_variant
STAD-US101315119213151192deletion of <=200bpC-frameshift_variantP24
STAD-US101315119213151192deletion of <=200bpC-upstream_gene_variant
STAD-US101315460613154606single base substitutionGCdownstream_gene_variant
STAD-US101315460613154606single base substitutionGCexon_variant
STAD-US101315460613154606single base substitutionGCmissense_variantE118Q352G>C
STAD-US101315460613154606single base substitutionGCmissense_variantE175Q523G>C
STAD-US101315460613154606single base substitutionGCupstream_gene_variant
STAD-US101315461513154615single base substitutionTGdownstream_gene_variant
STAD-US101315461513154615single base substitutionTGexon_variant
STAD-US101315461513154615single base substitutionTGmissense_variantF121V361T>G
STAD-US101315461513154615single base substitutionTGmissense_variantF178V532T>G
STAD-US101315461513154615single base substitutionTGupstream_gene_variant
STAD-US101316605713166057single base substitutionGTdownstream_gene_variant
STAD-US101316605713166057single base substitutionGTmissense_variantE309D927G>T
STAD-US101316605713166057single base substitutionGTmissense_variantE315D945G>T
STAD-US101316801013168010deletion of <=200bpA-downstream_gene_variant
STAD-US101316801013168010deletion of <=200bpA-frameshift_variantK399
STAD-US101316801013168010deletion of <=200bpA-frameshift_variantK405
STAD-US101316977713169777single base substitutionAGdownstream_gene_variant
STAD-US101316977713169777single base substitutionAGsynonymous_variantE419E1257A>G
STAD-US101316977713169777single base substitutionAGsynonymous_variantE425E1275A>G
STAD-US101316977713169777single base substitutionAGupstream_gene_variant
STAD-US101317416013174160single base substitutionCTexon_variant
STAD-US101317416013174160single base substitutionCTsynonymous_variantL493L1477C>T
STAD-US101317416013174160single base substitutionCTsynonymous_variantL499L1495C>T
STAD-US101317876513178765single base substitutionCTexon_variant
STAD-US101317876513178765single base substitutionCTmissense_variantR539W1615C>T
STAD-US101317876513178765single base substitutionCTmissense_variantR545W1633C>T
STAD-US101317876713178767single base substitutionGAexon_variant
STAD-US101317876713178767single base substitutionGAsynonymous_variantR539R1617G>A
STAD-US101317876713178767single base substitutionGAsynonymous_variantR545R1635G>A
THCA-SA101315240013152400single base substitutionTAdownstream_gene_variant
THCA-SA101315240013152400single base substitutionTAintron_variant
THCA-SA101315240013152400single base substitutionTAmissense_variantM41K122T>A
THCA-SA101315240013152400single base substitutionTAmissense_variantM98K293T>A
THCA-SA101315240013152400single base substitutionTAupstream_gene_variant
UCEC-US101315232513152325single base substitutionCTdownstream_gene_variant
UCEC-US101315232513152325single base substitutionCTintron_variant
UCEC-US101315232513152325single base substitutionCTmissense_variantS16L47C>T
UCEC-US101315232513152325single base substitutionCTmissense_variantS73L218C>T
UCEC-US101315232513152325single base substitutionCTupstream_gene_variant
UCEC-US101316093913160939single base substitutionCTdownstream_gene_variant
UCEC-US101316093913160939single base substitutionCTexon_variant
UCEC-US101316093913160939single base substitutionCTsynonymous_variantF220F660C>T
UCEC-US101316093913160939single base substitutionCTsynonymous_variantF226F678C>T
UCEC-US101316093913160939single base substitutionCTsynonymous_variantF41F123C>T
UCEC-US101316095613160956single base substitutionCTdownstream_gene_variant
UCEC-US101316095613160956single base substitutionCTexon_variant
UCEC-US101316095613160956single base substitutionCTmissense_variantT226I677C>T
UCEC-US101316095613160956single base substitutionCTmissense_variantT232I695C>T
UCEC-US101316095613160956single base substitutionCTmissense_variantT47I140C>T
UCEC-US101316097113160971single base substitutionTCdownstream_gene_variant
UCEC-US101316097113160971single base substitutionTCexon_variant
UCEC-US101316097113160971single base substitutionTCmissense_variantL231P692T>C
UCEC-US101316097113160971single base substitutionTCmissense_variantL237P710T>C
UCEC-US101316097113160971single base substitutionTCmissense_variantL52P155T>C
UCEC-US101316441813164418single base substitutionTCdownstream_gene_variant
UCEC-US101316441813164418single base substitutionTCsynonymous_variantR265R795T>C
UCEC-US101316441813164418single base substitutionTCsynonymous_variantR271R813T>C
UCEC-US101316441813164418single base substitutionTCsynonymous_variantR86R258T>C
UCEC-US101316600313166003single base substitutionCTdownstream_gene_variant
UCEC-US101316600313166003single base substitutionCTsynonymous_variantS291S873C>T
UCEC-US101316600313166003single base substitutionCTsynonymous_variantS297S891C>T
UCEC-US101316610613166106single base substitutionGTdownstream_gene_variant
UCEC-US101316610613166106single base substitutionGTstop_gainedE326*976G>T
UCEC-US101316610613166106single base substitutionGTstop_gainedE332*994G>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
S02299COSM1297072c.498C>Gp.L166LSubstitution - coding silent10:13112581-13112581+
SNUH_G10_S1COSM3997844c.293T>Ap.M98KSubstitution - Missense10:13110400-13110400+
TCGA-A6-5661-01COSM1346809c.44G>Tp.S15ISubstitution - Missense10:13109166-13109166+
TCGA-30-1853-01COSM71936c.1193A>Cp.Q398PSubstitution - Missense10:13125990-13125990+
TCGA-AP-A056-01COSM916184c.994G>Tp.E332*Substitution - Nonsense10:13124106-13124106+
113368COSM326000c.421G>Tp.D141YSubstitution - Missense10:13112504-13112504+
LUAD-S01302COSM395409c.883G>Cp.V295LSubstitution - Missense10:13123995-13123995+
LP6005500-DNA_C01COSM5952269c.1612+3G>Ap.?Unknown10:13133584-13133584+
TCGA-HU-A4GU-01COSM2022905c.1633C>Tp.R545WSubstitution - Missense10:13136765-13136765+
CSCC-15-TCOSM4501720c.596C>Gp.P199RSubstitution - Missense10:13116310-13116310+
RKOCOSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
sysucc-1163TCOSM5458111c.1568C>Tp.A523VSubstitution - Missense10:13133537-13133537+
TCGA-D1-A16J-01COSM916182c.813T>Cp.R271RSubstitution - coding silent10:13122418-13122418+
T660COSM4709571c.1459G>Tp.E487*Substitution - Nonsense10:13132124-13132124+
SW403COSM4655155c.1717A>Cp.M573LSubstitution - Missense10:13136849-13136849+
GC8_TCOSM146881c.102G>Ap.T34TSubstitution - coding silent10:13109224-13109224+
PA285COSM1162903c.72C>Ap.P24PSubstitution - coding silent10:13109194-13109194+
A9COSM5349544c.429C>Gp.L143LSubstitution - coding silent10:13112512-13112512+
TCGA-F5-6814-01COSM3414822c.669G>Tp.K223NSubstitution - Missense10:13118930-13118930+
BD236TCOSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
61COSM5738829c.1283A>Gp.E428GSubstitution - Missense10:13127785-13127785+
TCGA-25-1631-01COSM78226c.970G>Cp.E324QSubstitution - Missense10:13124082-13124082+
C135COSM1346810c.69_70insCp.H26fs*37Insertion - Frameshift10:13109191-13109192+
TCGA-BH-A0HN-01COSM427251c.943G>Ap.E315KSubstitution - Missense10:13124055-13124055+
TCGA-63-5128-01COSM684015c.1205A>Cp.N402TSubstitution - Missense10:13126002-13126002+
TCGA-AO-A03M-01COSM3806747c.877G>Cp.E293QSubstitution - Missense10:13122482-13122482+
433COSM4433605c.696T>Cp.T232TSubstitution - coding silent10:13118957-13118957+
TCGA-D8-A1Y1-01COSM1474475c.1257C>Tp.D419DSubstitution - coding silent10:13127759-13127759+
587222COSM1218485c.296C>Tp.A99VSubstitution - Missense10:13110403-13110403+
S01453COSM313472c.1387A>Cp.I463LSubstitution - Missense10:13127889-13127889+
C91COSM4444301c.257T>Ap.F86YSubstitution - Missense10:13110364-13110364+
TCGA-D7-5578-01COSM4012709c.1635G>Ap.R545RSubstitution - coding silent10:13136767-13136767+
TCGA-CD-8529-01COSM4012676c.523G>Cp.E175QSubstitution - Missense10:13112606-13112606+
ZZUFHECRKL-G067TCOSM5438565c.1360C>Tp.Q454*Substitution - Nonsense10:13127862-13127862+
RK219_C01COSM3741558c.405A>Gp.E135ESubstitution - coding silent10:13112488-13112488+
TCGA-BR-4361-01COSM4012688c.945G>Tp.E315DSubstitution - Missense10:13124057-13124057+
587278COSM1218486c.287G>Ap.R96HSubstitution - Missense10:13110394-13110394+
HT29COSM4638458c.110C>Tp.P37LSubstitution - Missense10:13109232-13109232+
TCGA-AD-5900-01COSM1346810c.69_70insCp.H26fs*37Insertion - Frameshift10:13109191-13109192+
HN_62854COSM78226c.970G>Cp.E324QSubstitution - Missense10:13124082-13124082+
TCGA-D8-A1XQ-01COSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
TCGA-AA-A010-01COSM283491c.1111G>Ap.E371KSubstitution - Missense10:13125530-13125530+
LUAD-S00484COSM342749c.1405G>Tp.E469*Substitution - Nonsense10:13132070-13132070+
TCGA-DM-A1DA-01COSM1346814c.1096G>Tp.E366*Substitution - Nonsense10:13125515-13125515+
RMS112_COSM3997844c.293T>Ap.M98KSubstitution - Missense10:13110400-13110400+
2734_TCOSM3978239c.10C>Tp.Q4*Substitution - Nonsense10:13109132-13109132+
TCGA-EJ-7125-01COSM3670486c.147C>Ap.T49TSubstitution - coding silent10:13109269-13109269+
TCGA-BS-A0UF-01COSM916168c.678C>Tp.F226FSubstitution - coding silent10:13118939-13118939+
TCGA-AP-A051-01COSM916183c.891C>Tp.S297SSubstitution - coding silent10:13124003-13124003+
415COSM4431282c.370-4C>Gp.?Unknown10:13112449-13112449+
LUAD-F00089COSM339553c.126G>Tp.Q42HSubstitution - Missense10:13109248-13109248+
pfg076TCOSM4750169c.812G>Ap.R271HSubstitution - Missense10:13122417-13122417+
J63_TCOSM3978242c.1585G>Tp.D529YSubstitution - Missense10:13133554-13133554+
TCGA-29-1693-01COSM1321465c.61G>Cp.G21RSubstitution - Missense10:13109183-13109183+
cSCCP6COSM136765c.1643G>Ap.R548QSubstitution - Missense10:13136775-13136775+
TCGA-CG-4465-01COSM4012697c.1275A>Gp.E425ESubstitution - coding silent10:13127777-13127777+
Gp2DCOSM2022843c.1571G>Ap.R524KSubstitution - Missense10:13133540-13133540+
SNUH_G76_S1COSM146881c.102G>Ap.T34TSubstitution - coding silent10:13109224-13109224+
YUPATCOSM1702067c.1447G>Ap.E483KSubstitution - Missense10:13132112-13132112+
8062296COSM3768999c.203G>Ap.R68KSubstitution - Missense10:13110310-13110310+
HF-11782COSM1192927c.1532+1_1532+2GT>ACp.?Unknown10:13132198-13132199+
PD18264aCOSM5794208c.780-4C>Tp.?Unknown10:13122381-13122381+
CT251COSM5044946c.423C>Ap.D141ESubstitution - Missense10:13112506-13112506+
TCGA-D5-6540-01COSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
T84COSM2022831c.1005G>Ap.Q335QSubstitution - coding silent10:13125424-13125424+
TCGA-AP-A056-01COSM916166c.218C>Tp.S73LSubstitution - Missense10:13110325-13110325+
I2L-P19Tb-Tumor-BiopsyCOSM5360051c.779G>Tp.R260ISubstitution - Missense10:13119040-13119040+
TCGA-G2-A2EO-01COSM1297072c.498C>Gp.L166LSubstitution - coding silent10:13112581-13112581+
277-01-3TDCOSM5417457c.720A>Gp.L240LSubstitution - coding silent10:13118981-13118981+
TCGA-D1-A15Z-01COSM916193c.1207G>Tp.A403SSubstitution - Missense10:13126004-13126004+
587400COSM1218487c.434C>Ap.T145NSubstitution - Missense10:13112517-13112517+
LC_C21COSM1187893c.706C>Ap.L236ISubstitution - Missense10:13118967-13118967+
LIM2405COSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
TCGA-D9-A6EC-06COSM4400787c.206T>Gp.F69CSubstitution - Missense10:13110313-13110313+
TCGA-CA-6717-01COSM916168c.678C>Tp.F226FSubstitution - coding silent10:13118939-13118939+
YUBERCOSM1702066c.875C>Gp.P292RSubstitution - Missense10:13122480-13122480+
LUAD-F00162COSM366019c.199G>Ap.G67RSubstitution - Missense10:13110306-13110306+
TCGA-DK-A3IN-01COSM3790600c.835G>Cp.E279QSubstitution - Missense10:13122440-13122440+
TCGA-F5-6814-01COSM3414821c.315G>Tp.E105DSubstitution - Missense10:13110422-13110422+
TCGA-E9-A243-01COSM1474476c.1464A>Gp.E488ESubstitution - coding silent10:13132129-13132129+
I2L-P19Tb-Tumor-OrganoidCOSM5360051c.779G>Tp.R260ISubstitution - Missense10:13119040-13119040+
TCGA-CM-5348-01COSM1346816c.1518C>Tp.F506FSubstitution - coding silent10:13132183-13132183+
TCGA-AA-A00N-01COSM276446c.248G>Ap.R83HSubstitution - Missense10:13110355-13110355+
Gp5DCOSM2022843c.1571G>Ap.R524KSubstitution - Missense10:13133540-13133540+
TCGA-F1-A448-01COSM4012698c.1495C>Tp.L499LSubstitution - coding silent10:13132160-13132160+
234COSM3731065c.1384A>Cp.T462PSubstitution - Missense10:13127886-13127886+
BHYCOSM2022832c.1044G>Tp.L348FSubstitution - Missense10:13125463-13125463+
TCGA-CM-5861-01COSM1346810c.69_70insCp.H26fs*37Insertion - Frameshift10:13109191-13109192+
Pat_26_ACOSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
SE1COSM1165669c.1149-1G>Tp.?Unknown10:13125945-13125945+
169COSM1346811c.70delCp.H26fs*19Deletion - Frameshift10:13109192-13109192+
A673COSM2022841c.1445_1447delGAGp.R482_E483>KComplex - deletion inframe10:13132110-13132112+
TCGA-P4-A5EB-01COSM3985499c.733C>Tp.Q245*Substitution - Nonsense10:13118994-13118994+
S01453COSM313472c.1387A>Cp.I463LSubstitution - Missense10:13127889-13127889+
QC2-34-T2COSM5654841c.1042T>Ap.L348MSubstitution - Missense10:13125461-13125461+
RK053_C01COSM3741559c.626+9A>Gp.?Unknown10:13116349-13116349+
C086COSM5535986c.14C>Tp.P5LSubstitution - Missense10:13109136-13109136+
TCGA-AU-6004-01COSM1346812c.455C>Tp.A152VSubstitution - Missense10:13112538-13112538+
TCGA-F1-6177-01COSM4012677c.532T>Gp.F178VSubstitution - Missense10:13112615-13112615+
C008COSM5523330c.297C>Tp.A99ASubstitution - coding silent10:13110404-13110404+
TCGA-D1-A16Y-01COSM916170c.710T>Cp.L237PSubstitution - Missense10:13118971-13118971+
SCMC_RM2_COSM3997844c.293T>Ap.M98KSubstitution - Missense10:13110400-13110400+
H2009COSM1193856c.1661C>Tp.S554FSubstitution - Missense10:13136793-13136793+
TCGA-GF-A6C9-06COSM4903428c.1009C>Tp.L337FSubstitution - Missense10:13125428-13125428+
TCGA-B5-A11N-01COSM916169c.695C>Tp.T232ISubstitution - Missense10:13118956-13118956+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.33270610p13602432
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.I463Lc.1387A>C1013169889SCLC
ACMissensep.N402Tc.1205A>C1013168002LUSC
ACMissensep.Q398Pc.1193A>C1013167990OV
AGMissensep.K489Rc.1466A>G1013174131GBM
AGSynonymousp.E425Ec.1275A>G1013169777STAD
AGSynonymousp.E488Ec.1464A>G1013174129BRCA
AGSynonymousp.L240Lc.720A>G1013160981CLL
-CACAIntronicInsertion.c.1-212_1-211insCACA1013150911CM
CAIntronicSNV.c.627-1074C>A1013159814CLL
CCTTMissensep.T49Ic.146_147delinsTT1013151268CM
C-Frameshiftp.H26Tfs*19c.76delC1013151192STAD
CGSynonymousp.L166Lc.498C>G1013154581BLCA
CTMissensep.P551Lc.1652C>T1013178784CM
CTNonsensep.Q84*c.250C>T1013152357CM
CTSynonymousp.D419Dc.1257C>T1013169759BRCA
GAMissensep.E312Kc.934G>A1013166046LUAD
GAMissensep.E315Kc.943G>A1013166055BRCA
GAMissensep.M98Ic.294G>A1013152401LUAD
GASynonymousp.R149Rc.447G>A1013154530STAD
GCMissensep.E279Qc.835G>C1013164440BLCA
GCMissensep.E324Qc.970G>C1013166082HNSC
GCMissensep.E324Qc.970G>C1013166082OV
GTMissensep.D141Yc.421G>T1013154504SCLC
GTMissensep.D176Yc.526G>T1013154609LUAD
GTMissensep.G21Vc.62G>T1013151184BRCA
GTSynonymousp.A136Ac.408G>T1013154491LUAD
GTSynonymousp.A523Ac.1569G>T1013175538LUAD
TCIntronicSNV.c.626+80T>C1013158420HC
TCMissensep.L237Pc.710T>C1013160971UCEC
TCSynonymousp.R271Rc.813T>C1013164418UCEC
TGMissensep.F178Vc.532T>G1013154615STAD