PHF1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC63338101533381015+Missense_MutationSNPGGCTCGA-OR-A5KB-01A-11D-A30A-10TCGA-OR-A5KB-11A-11D-A30A-10g.chr6:33381015G>Cc.380G>Cc.(379-381)gGa>gCap.G127A
BLCA63338005033380050+Frame_Shift_DelDELCC-TCGA-XF-A9SZ-01A-11D-A391-08TCGA-XF-A9SZ-10A-01D-A394-08g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
BLCA63338011933380119+Missense_MutationSNPCCATCGA-FD-A6TD-01A-51D-A339-08TCGA-FD-A6TD-10A-21D-A339-08g.chr6:33380119C>Ac.79C>Ac.(79-81)Ccc>Accp.P27T
BLCA63338012833380128+Missense_MutationSNPCCTTCGA-GV-A3JZ-01A-11D-A21A-08TCGA-GV-A3JZ-10A-01D-A21A-08g.chr6:33380128C>Tc.88C>Tc.(88-90)Cgg>Tggp.R30W
BLCA63338056033380560+SilentSNPGGATCGA-G2-A2EO-01A-11D-A17V-08TCGA-G2-A2EO-11A-21D-A17V-08g.chr6:33380560G>Ac.327G>Ac.(325-327)aaG>aaAp.K109K
BLCA63338101533381015+Missense_MutationSNPGGCTCGA-XF-A9SK-01A-11D-A42E-08TCGA-XF-A9SK-10A-01D-A42H-08g.chr6:33381015G>Cc.380G>Cc.(379-381)gGa>gCap.G127A
BLCA63338107333381073+Splice_SiteSNPGGATCGA-E5-A4TZ-01A-11D-A31L-08TCGA-E5-A4TZ-10B-01D-A31J-08g.chr6:33381073G>Ac.438G>Ac.(436-438)aaG>aaAp.K146K
BLCA63338129033381290+SilentSNPGGATCGA-XF-A9T0-01A-11D-A391-08TCGA-XF-A9T0-10A-01D-A394-08g.chr6:33381290G>Ac.543G>Ac.(541-543)ctG>ctAp.L181L
BLCA63338211433382114+Missense_MutationSNPGGCTCGA-BT-A42F-01A-11D-A23U-08TCGA-BT-A42F-10A-01D-A23U-08g.chr6:33382114G>Cc.847G>Cc.(847-849)Gag>Cagp.E283Q
BLCA63338361433383614+SilentSNPCCTTCGA-S5-AA26-01A-11D-A38G-08TCGA-S5-AA26-10A-01D-A38J-08g.chr6:33383614C>Tc.1443C>Tc.(1441-1443)ttC>ttTp.F481F
BLCA63338364733383647+SilentSNPGGCTCGA-G2-A2EO-01A-11D-A17V-08TCGA-G2-A2EO-11A-21D-A17V-08g.chr6:33383647G>Cc.1476G>Cc.(1474-1476)tcG>tcCp.S492S
BLCA63338367333383673+Missense_MutationSNPCCTTCGA-S5-AA26-01A-11D-A38G-08TCGA-S5-AA26-10A-01D-A38J-08g.chr6:33383673C>Tc.1502C>Tc.(1501-1503)tCa>tTap.S501L
BLCA63338368233383682+Missense_MutationSNPCCTTCGA-XF-AAN0-01A-11D-A42E-08TCGA-XF-AAN0-10A-01D-A42H-08g.chr6:33383682C>Tc.1511C>Tc.(1510-1512)tCc>tTcp.S504F
BLCA63338374333383743+SilentSNPGGATCGA-G2-A2EO-01A-11D-A17V-08TCGA-G2-A2EO-11A-21D-A17V-08g.chr6:33383743G>Ac.1572G>Ac.(1570-1572)ggG>ggAp.G524G
BLCA63338375433383754+Missense_MutationSNPGGCTCGA-G2-A2EO-01A-11D-A17V-08TCGA-G2-A2EO-11A-21D-A17V-08g.chr6:33383754G>Cc.1583G>Cc.(1582-1584)gGa>gCap.G528A
BLCA63338378433383784+Missense_MutationSNPGGATCGA-XF-A9T5-01A-11D-A42E-08TCGA-XF-A9T5-10A-01D-A42H-08g.chr6:33383784G>Ac.1613G>Ac.(1612-1614)cGa>cAap.R538Q
BRCA63338004933380050+Frame_Shift_InsINS--CTCGA-E9-A1NI-01A-11W-A16H-09TCGA-E9-A1NI-10A-01D-A17G-09g.chr6:33380049_33380050insCc.9_10insCc.(10-12)cccfsp.P4fs
BRCA63338188233381882+Missense_MutationSNPCCTTCGA-AC-A3W6-01A-12D-A228-09TCGA-AC-A3W6-10A-01D-A22A-09g.chr6:33381882C>Tc.748C>Tc.(748-750)Cgc>Tgcp.R250C
BRCA63338231533382315+Missense_MutationSNPAAGTCGA-A7-A4SE-01A-11D-A25Q-09TCGA-A7-A4SE-10A-01D-A25Q-09g.chr6:33382315A>Gc.938A>Gc.(937-939)aAg>aGgp.K313R
CESC63338374333383743+SilentSNPGGTTCGA-EK-A2RK-01A-11D-A18J-09TCGA-EK-A2RK-10A-01D-A18J-09g.chr6:33383743G>Tc.1572G>Tc.(1570-1572)ggG>ggTp.G524G
COAD63338005033380050+Frame_Shift_DelDELCC-TCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
COAD63338005033380050+Frame_Shift_DelDELCC-TCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
COAD63338005033380050+Frame_Shift_DelDELCC-TCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
COAD63338009433380094+SilentSNPAAGTCGA-DM-A1HB-01A-21D-A183-10TCGA-DM-A1HB-10A-01D-A183-10g.chr6:33380094A>Gc.54A>Gc.(52-54)ccA>ccGp.P18P
COAD63338014033380140+Missense_MutationSNPGGATCGA-G4-6315-01A-11D-1719-10TCGA-G4-6315-10A-01D-1720-10g.chr6:33380140G>Ac.100G>Ac.(100-102)Ggt>Agtp.G34S
COAD63338152533381525+Missense_MutationSNPAACTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr6:33381525A>Cc.600A>Cc.(598-600)aaA>aaCp.K200N
COAD63338339933383399+Missense_MutationSNPCCATCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr6:33383399C>Ac.1367C>Ac.(1366-1368)cCt>cAtp.P456H
COADREAD63338005033380050+Frame_Shift_DelDELCC-TCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
COADREAD63338005033380050+Frame_Shift_DelDELCC-TCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
COADREAD63338005033380050+Frame_Shift_DelDELCC-TCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
COADREAD63338009433380094+SilentSNPAAGTCGA-DM-A1HB-01A-21D-A183-10TCGA-DM-A1HB-10A-01D-A183-10g.chr6:33380094A>Gc.54A>Gc.(52-54)ccA>ccGp.P18P
COADREAD63338014033380140+Missense_MutationSNPGGATCGA-G4-6315-01A-11D-1719-10TCGA-G4-6315-10A-01D-1720-10g.chr6:33380140G>Ac.100G>Ac.(100-102)Ggt>Agtp.G34S
COADREAD63338152533381525+Missense_MutationSNPAACTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr6:33381525A>Cc.600A>Cc.(598-600)aaA>aaCp.K200N
COADREAD63338339933383399+Missense_MutationSNPCCATCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr6:33383399C>Ac.1367C>Ac.(1366-1368)cCt>cAtp.P456H
COADREAD63338379933383799+Missense_MutationSNPGGATCGA-AG-A014-01A-02W-A00K-09TCGA-AG-A014-10A-01W-A00K-09g.chr6:33383799G>Ac.1628G>Ac.(1627-1629)cGg>cAgp.R543Q
ESCA63338005033380050+Frame_Shift_DelDELCC-TCGA-L5-A8NM-01A-11D-A37C-09TCGA-L5-A8NM-11A-12D-A37F-09g.chr6:33380050delCc.10delCc.(10-12)cccfsp.P5fs
ESCA63338009633380097+Frame_Shift_InsINS--TTCGA-2H-A9GI-01A-11D-A37C-09TCGA-2H-A9GI-11A-11D-A37F-09g.chr6:33380096_33380097insTc.56_57insTc.(55-60)gcttctfsp.S20fs
ESCA63338213733382137+SilentSNPGGTTCGA-JY-A6FG-01A-11D-A33E-09TCGA-JY-A6FG-10A-01D-A33H-09g.chr6:33382137G>Tc.870G>Tc.(868-870)ctG>ctTp.L290L
ESCA63338256633382566+Frame_Shift_DelDELCC-TCGA-L5-A43J-01A-12D-A247-09TCGA-L5-A43J-11A-11D-A247-09g.chr6:33382566delCc.1009delCc.(1009-1011)cccfsp.P338fs
GBM63338005933380059+SilentSNPCCTTCGA-08-0386-01A-01D-1492-08TCGA-08-0386-11A-01D-1492-08g.chr6:33380059C>Tc.19C>Tc.(19-21)Ctg>Ttgp.L7L
GBM63338259533382595+SilentSNPAAGTCGA-06-5417-01A-01D-1486-08TCGA-06-5417-10A-01D-1486-08g.chr6:33382595A>Gc.1038A>Gc.(1036-1038)ggA>ggGp.G346G
GBM63338287133382871+Frame_Shift_DelDELCC-TCGA-32-1977-01A-01D-1353-08TCGA-32-1977-10C-01D-1353-08g.chr6:33382871delCc.1189delCc.(1189-1191)cccfsp.P397fs
GBMLGG63338005933380059+SilentSNPCCTTCGA-08-0386-01A-01D-1492-08TCGA-08-0386-11A-01D-1492-08g.chr6:33380059C>Tc.19C>Tc.(19-21)Ctg>Ttgp.L7L
GBMLGG63338230433382304+SilentSNPTTGTCGA-FG-A87Q-01A-11D-A36O-08TCGA-FG-A87Q-10A-01D-A367-08g.chr6:33382304T>Gc.927T>Gc.(925-927)ctT>ctGp.L309L
GBMLGG63338259533382595+SilentSNPAAGTCGA-06-5417-01A-01D-1486-08TCGA-06-5417-10A-01D-1486-08g.chr6:33382595A>Gc.1038A>Gc.(1036-1038)ggA>ggGp.G346G
GBMLGG63338287133382871+Frame_Shift_DelDELCC-TCGA-32-1977-01A-01D-1353-08TCGA-32-1977-10C-01D-1353-08g.chr6:33382871delCc.1189delCc.(1189-1191)cccfsp.P397fs
GBMLGG63338371033383710+SilentSNPCCATCGA-DB-5277-01A-01D-1468-08TCGA-DB-5277-10A-01D-1468-08g.chr6:33383710C>Ac.1539C>Ac.(1537-1539)ccC>ccAp.P513P
HNSC63338052133380521+Missense_MutationSNPGGCTCGA-CV-A45Q-01A-11D-A24D-08TCGA-CV-A45Q-10A-01D-A24F-08g.chr6:33380521G>Cc.288G>Cc.(286-288)gaG>gaCp.E96D
HNSC63338185833381858+Missense_MutationSNPGGATCGA-MT-A51W-01A-21D-A25Y-08TCGA-MT-A51W-10A-01D-A25Y-08g.chr6:33381858G>Ac.724G>Ac.(724-726)Gag>Aagp.E242K
HNSC63338252233382522+Missense_MutationSNPTTCTCGA-UF-A71D-01A-12D-A34J-08TCGA-UF-A71D-10B-01D-A34M-08g.chr6:33382522T>Cc.965T>Cc.(964-966)aTt>aCtp.I322T
HNSC63338253633382536+Missense_MutationSNPTTATCGA-CQ-5334-01A-01D-1683-08TCGA-CQ-5334-10A-01D-1683-08g.chr6:33382536T>Ac.979T>Ac.(979-981)Tgt>Agtp.C327S
HNSC63338366333383663+Missense_MutationSNPTTCTCGA-P3-A6T4-01A-11D-A34J-08TCGA-P3-A6T4-10A-01D-A34M-08g.chr6:33383663T>Cc.1492T>Cc.(1492-1494)Tcc>Cccp.S498P
HNSC63338378433383784+Missense_MutationSNPGGTTCGA-P3-A5Q5-01A-11D-A28R-08TCGA-P3-A5Q5-10A-01D-A28U-08g.chr6:33383784G>Tc.1613G>Tc.(1612-1614)cGa>cTap.R538L
KIPAN63338032533380325+Missense_MutationSNPAATTCGA-BQ-7051-01A-12D-1961-08TCGA-BQ-7051-11A-02D-1961-08g.chr6:33380325A>Tc.200A>Tc.(199-201)gAt>gTtp.D67V
KIPAN63338250633382507+Frame_Shift_InsINS--TTCGA-BP-5000-01A-01D-1462-08TCGA-BP-5000-11A-01D-1462-08g.chr6:33382506_33382507insTc.949_950insTc.(949-951)attfsp.I317fs
KIPAN63338256533382565+SilentSNPTTCTCGA-BP-5181-01A-01D-1429-08TCGA-BP-5181-11A-01D-1429-08g.chr6:33382565T>Cc.1008T>Cc.(1006-1008)ccT>ccCp.P336P
KIRC63338250633382507+Frame_Shift_InsINS--TTCGA-BP-5000-01A-01D-1462-08TCGA-BP-5000-11A-01D-1462-08g.chr6:33382506_33382507insTc.949_950insTc.(949-951)attfsp.I317fs
KIRC63338256533382565+SilentSNPTTCTCGA-BP-5181-01A-01D-1429-08TCGA-BP-5181-11A-01D-1429-08g.chr6:33382565T>Cc.1008T>Cc.(1006-1008)ccT>ccCp.P336P
KIRP63338032533380325+Missense_MutationSNPAATTCGA-BQ-7051-01A-12D-1961-08TCGA-BQ-7051-11A-02D-1961-08g.chr6:33380325A>Tc.200A>Tc.(199-201)gAt>gTtp.D67V
LGG63338230433382304+SilentSNPTTGTCGA-FG-A87Q-01A-11D-A36O-08TCGA-FG-A87Q-10A-01D-A367-08g.chr6:33382304T>Gc.927T>Gc.(925-927)ctT>ctGp.L309L
LGG63338371033383710+SilentSNPCCATCGA-DB-5277-01A-01D-1468-08TCGA-DB-5277-10A-01D-1468-08g.chr6:33383710C>Ac.1539C>Ac.(1537-1539)ccC>ccAp.P513P
LIHC63338258133382581+Missense_MutationSNPCCTTCGA-DD-AADS-01A-11D-A40R-10TCGA-DD-AADS-10A-01D-A40U-10g.chr6:33382581C>Tc.1024C>Tc.(1024-1026)Cct>Tctp.P342S
LUAD63338055333380553+Missense_MutationSNPGGATCGA-38-4627-01A-01D-1553-08TCGA-38-4627-11A-01D-1553-08g.chr6:33380553G>Ac.320G>Ac.(319-321)tGt>tAtp.C107Y
LUAD63338211233382112+Missense_MutationSNPCCGTCGA-78-7539-01A-11D-2063-08TCGA-78-7539-10A-01D-2063-08g.chr6:33382112C>Gc.845C>Gc.(844-846)tCt>tGtp.S282C
LUAD63338212633382126+Missense_MutationSNPAATTCGA-MP-A4TC-01A-11D-A24P-08TCGA-MP-A4TC-10A-01D-A24P-08g.chr6:33382126A>Tc.859A>Tc.(859-861)Agt>Tgtp.S287C
LUAD63338286433382864+SilentSNPCCTTCGA-17-Z020-01A-01W-0746-08TCGA-17-Z020-11A-01W-0746-08g.chr6:33382864C>Tc.1182C>Tc.(1180-1182)cgC>cgTp.R394R
LUAD63338363633383636+Missense_MutationSNPGGATCGA-MP-A4T4-01A-11D-A25L-08TCGA-MP-A4T4-10A-01D-A25L-08g.chr6:33383636G>Ac.1465G>Ac.(1465-1467)Gcc>Accp.A489T
LUAD63338364633383646+Missense_MutationSNPCCTTCGA-78-7147-01A-11D-2036-08TCGA-78-7147-10A-01D-2036-08g.chr6:33383646C>Tc.1475C>Tc.(1474-1476)tCg>tTgp.S492L
LUSC63338129433381294+Missense_MutationSNPAAGTCGA-60-2715-01A-01D-1522-08TCGA-60-2715-11A-01D-1522-08g.chr6:33381294A>Gc.547A>Gc.(547-549)Aac>Gacp.N183D
OV63338213733382137+SilentSNPGGATCGA-36-2533-01A-01D-1526-09TCGA-36-2533-10A-01D-1526-09g.chr6:33382137G>Ac.870G>Ac.(868-870)ctG>ctAp.L290L
PAAD63338206233382062+SilentSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr6:33382062C>Tc.795C>Tc.(793-795)tgC>tgTp.C265C
PAAD63338213433382134+SilentSNPCCATCGA-2L-AAQA-01A-21D-A38G-08TCGA-2L-AAQA-11A-11D-A38J-08g.chr6:33382134C>Ac.867C>Ac.(865-867)ctC>ctAp.L289L
PAAD63338291433382914+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr6:33382914C>Tc.1232C>Tc.(1231-1233)gCa>gTap.A411V
PRAD63338102533381025+Missense_MutationSNPGGTTCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr6:33381025G>Tc.390G>Tc.(388-390)gaG>gaTp.E130D
PRAD63338381033383810+Missense_MutationSNPCCTTCGA-J9-A52C-01A-11D-A26M-08TCGA-J9-A52C-10A-01D-A26K-08g.chr6:33383810C>Tc.1639C>Tc.(1639-1641)Cgg>Tggp.R547W
READ63338379933383799+Missense_MutationSNPGGATCGA-AG-A014-01A-02W-A00K-09TCGA-AG-A014-10A-01W-A00K-09g.chr6:33383799G>Ac.1628G>Ac.(1627-1629)cGg>cAgp.R543Q
SKCM63338009733380097+SilentSNPTTGTCGA-EE-A29N-06A-12D-A197-08TCGA-EE-A29N-10A-01D-A199-08g.chr6:33380097T>Gc.57T>Gc.(55-57)gcT>gcGp.A19A
SKCM63338206633382066+Nonsense_MutationSNPAATTCGA-EE-A2GH-06A-11D-A196-08TCGA-EE-A2GH-10A-01D-A198-08g.chr6:33382066A>Tc.799A>Tc.(799-801)Aag>Tagp.K267*
SKCM63338258233382582+Missense_MutationSNPCCTTCGA-EE-A3JA-06A-11D-A20D-08TCGA-EE-A3JA-10A-01D-A20D-08g.chr6:33382582C>Tc.1025C>Tc.(1024-1026)cCt>cTtp.P342L
SKCM63338301733383017+SilentSNPAAGTCGA-EE-A2MJ-06A-11D-A197-08TCGA-EE-A2MJ-10A-01D-A199-08g.chr6:33383017A>Gc.1245A>Gc.(1243-1245)tcA>tcGp.S415S
SKCM63338303333383033+Missense_MutationSNPCCTTCGA-EE-A29M-06A-11D-A196-08TCGA-EE-A29M-10A-01D-A198-08g.chr6:33383033C>Tc.1261C>Tc.(1261-1263)Ccc>Tccp.P421S
SKCM63338337333383373+SilentSNPCCTTCGA-EE-A2GJ-06A-11D-A196-08TCGA-EE-A2GJ-10A-01D-A198-08g.chr6:33383373C>Tc.1341C>Tc.(1339-1341)ccC>ccTp.P447P
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN63338536233385362single base substitutionGAdownstream_gene_variant
BLCA-US63338012833380128single base substitutionCTexon_variant
BLCA-US63338012833380128single base substitutionCTmissense_variantR30W88C>T
BLCA-US63338012833380128single base substitutionCTupstream_gene_variant
BLCA-US63338056033380560single base substitutionGAdownstream_gene_variant
BLCA-US63338056033380560single base substitutionGAexon_variant
BLCA-US63338056033380560single base substitutionGAsynonymous_variantK109K327G>A
BLCA-US63338056033380560single base substitutionGAupstream_gene_variant
BLCA-US63338364733383647single base substitutionGC3_prime_UTR_variant
BLCA-US63338364733383647single base substitutionGCdownstream_gene_variant
BLCA-US63338364733383647single base substitutionGCexon_variant
BLCA-US63338364733383647single base substitutionGCmissense_variantR457P1370G>C
BLCA-US63338364733383647single base substitutionGCsynonymous_variantS106S318G>C
BLCA-US63338364733383647single base substitutionGCsynonymous_variantS492S1476G>C
BLCA-US63338374333383743single base substitutionGA3_prime_UTR_variant
BLCA-US63338374333383743single base substitutionGAdownstream_gene_variant
BLCA-US63338374333383743single base substitutionGAexon_variant
BLCA-US63338374333383743single base substitutionGAsynonymous_variantG138G414G>A
BLCA-US63338374333383743single base substitutionGAsynonymous_variantG524G1572G>A
BLCA-US63338375433383754single base substitutionGC3_prime_UTR_variant
BLCA-US63338375433383754single base substitutionGCdownstream_gene_variant
BLCA-US63338375433383754single base substitutionGCexon_variant
BLCA-US63338375433383754single base substitutionGCmissense_variantG142A425G>C
BLCA-US63338375433383754single base substitutionGCmissense_variantG528A1583G>C
BLCA-US63338531133385311single base substitutionGAdownstream_gene_variant
BRCA-EU63337359233373592single base substitutionCTupstream_gene_variant
BRCA-EU63337363733373637single base substitutionCTupstream_gene_variant
BRCA-EU63337364433373644single base substitutionCAupstream_gene_variant
BRCA-EU63337374233373742single base substitutionTCupstream_gene_variant
BRCA-EU63337409733374097single base substitutionGAupstream_gene_variant
BRCA-EU63337474433374744single base substitutionCTupstream_gene_variant
BRCA-EU63337535833375358single base substitutionGAupstream_gene_variant
BRCA-EU63337590533375905single base substitutionCTupstream_gene_variant
BRCA-EU63337607633376076single base substitutionCAupstream_gene_variant
BRCA-EU63337608933376089single base substitutionGTupstream_gene_variant
BRCA-EU63337636833376368single base substitutionCTupstream_gene_variant
BRCA-EU63337657733376577single base substitutionGAupstream_gene_variant
BRCA-EU63337701833377018single base substitutionCTupstream_gene_variant
BRCA-EU63337770433377748deletion of <=200bpGGGAGCTGTGATCTGTACCCTCTGCCAAACGTTTACGTGGGAGGC-upstream_gene_variant
BRCA-EU63337834433378344single base substitutionAGintron_variant
BRCA-EU63337834433378344single base substitutionAGupstream_gene_variant
BRCA-EU63338010133380101single base substitutionCTexon_variant
BRCA-EU63338010133380101single base substitutionCTmissense_variantP21S61C>T
BRCA-EU63338010133380101single base substitutionCTupstream_gene_variant
BRCA-EU63338205333382053single base substitutionCTdownstream_gene_variant
BRCA-EU63338205333382053single base substitutionCTexon_variant
BRCA-EU63338205333382053single base substitutionCTsynonymous_variantL262L786C>T
BRCA-EU63338205333382053single base substitutionCTupstream_gene_variant
BRCA-EU63338232233382322single base substitutionGCdownstream_gene_variant
BRCA-EU63338232233382322single base substitutionGCsplice_donor_variant
BRCA-EU63338232233382322single base substitutionGCupstream_gene_variant
BRCA-EU63338342333383423single base substitutionCG3_prime_UTR_variant
BRCA-EU63338342333383423single base substitutionCGdownstream_gene_variant
BRCA-EU63338342333383423single base substitutionCGexon_variant
BRCA-EU63338342333383423single base substitutionCGmissense_variantL429V1285C>G
BRCA-EU63338342333383423single base substitutionCGmissense_variantS464C1391C>G
BRCA-EU63338342333383423single base substitutionCGmissense_variantS78C233C>G
BRCA-EU63338423933384239single base substitutionGAdownstream_gene_variant
BRCA-EU63338519333385193single base substitutionCGdownstream_gene_variant
BRCA-EU63338555333385553single base substitutionCGdownstream_gene_variant
BRCA-EU63338619333386193single base substitutionCAdownstream_gene_variant
BRCA-EU63338619633386196single base substitutionCTdownstream_gene_variant
BRCA-EU63338638533386385single base substitutionGTdownstream_gene_variant
BRCA-EU63338693733386937single base substitutionGAdownstream_gene_variant
BRCA-EU63338772033387720single base substitutionGCdownstream_gene_variant
BRCA-EU63338803733388037single base substitutionGCdownstream_gene_variant
BRCA-EU63338816833388168single base substitutionCGdownstream_gene_variant
BRCA-FR63338082833380828single base substitutionCTdownstream_gene_variant
BRCA-FR63338082833380828single base substitutionCTexon_variant
BRCA-FR63338082833380828single base substitutionCTintron_variant
BRCA-FR63338082833380828single base substitutionCTupstream_gene_variant
BRCA-FR63338519333385193single base substitutionCGdownstream_gene_variant
BRCA-FR63338555333385553single base substitutionCGdownstream_gene_variant
BRCA-FR63338772033387720single base substitutionGCdownstream_gene_variant
BRCA-KR63337455433374554single base substitutionTCupstream_gene_variant
BRCA-UK63338442533384425single base substitutionCTdownstream_gene_variant
BRCA-US63337417033374170single base substitutionCTupstream_gene_variant
BRCA-US63337426533374265single base substitutionTGupstream_gene_variant
BRCA-US63337463933374639single base substitutionGAupstream_gene_variant
BRCA-US63337464833374648single base substitutionCTupstream_gene_variant
BRCA-US63337746633377466single base substitutionGTupstream_gene_variant
BRCA-US63338004933380049insertion of <=200bp-Cexon_variant
BRCA-US63338004933380049insertion of <=200bp-Cframeshift_variantQ3H?
BRCA-US63338004933380049insertion of <=200bp-Cupstream_gene_variant
BRCA-US63338188233381882single base substitutionCTdownstream_gene_variant
BRCA-US63338188233381882single base substitutionCTexon_variant
BRCA-US63338188233381882single base substitutionCTmissense_variantR250C748C>T
BRCA-US63338188233381882single base substitutionCTupstream_gene_variant
BRCA-US63338231533382315single base substitutionAGdownstream_gene_variant
BRCA-US63338231533382315single base substitutionAGexon_variant
BRCA-US63338231533382315single base substitutionAGmissense_variantK313R938A>G
BRCA-US63338231533382315single base substitutionAGupstream_gene_variant
BRCA-US63338445733384457single base substitutionTCdownstream_gene_variant
BTCA-JP63337400633374006single base substitutionCAupstream_gene_variant
BTCA-JP63338221033382210single base substitutionGCdownstream_gene_variant
BTCA-JP63338221033382210single base substitutionGCintron_variant
BTCA-JP63338221033382210single base substitutionGCupstream_gene_variant
BTCA-JP63338250033382500single base substitutionACdownstream_gene_variant
BTCA-JP63338250033382500single base substitutionACsplice_acceptor_variant
BTCA-JP63338250033382500single base substitutionACupstream_gene_variant
BTCA-JP63338388433383884single base substitutionCT3_prime_UTR_variant
BTCA-JP63338388433383884single base substitutionCTdownstream_gene_variant
BTCA-JP63338388433383884single base substitutionCTexon_variant
CESC-US63337317833373178single base substitutionCTupstream_gene_variant
CESC-US63338374333383743single base substitutionGT3_prime_UTR_variant
CESC-US63338374333383743single base substitutionGTdownstream_gene_variant
CESC-US63338374333383743single base substitutionGTexon_variant
CESC-US63338374333383743single base substitutionGTsynonymous_variantG138G414G>T
CESC-US63338374333383743single base substitutionGTsynonymous_variantG524G1572G>T
CESC-US63338474033384740single base substitutionTGdownstream_gene_variant
CESC-US63338593733385937single base substitutionGAdownstream_gene_variant
CLLE-ES63338056333380563single base substitutionTAdownstream_gene_variant
CLLE-ES63338056333380563single base substitutionTAexon_variant
CLLE-ES63338056333380563single base substitutionTAstop_gainedC110*330T>A
CLLE-ES63338056333380563single base substitutionTAupstream_gene_variant
COAD-US63337325133373251single base substitutionGTupstream_gene_variant
COAD-US63337403633374036single base substitutionCTupstream_gene_variant
COAD-US63338005033380050deletion of <=200bpC-exon_variant
COAD-US63338005033380050deletion of <=200bpC-frameshift_variantP4
COAD-US63338005033380050deletion of <=200bpC-upstream_gene_variant
COAD-US63338014033380140single base substitutionGAexon_variant
COAD-US63338014033380140single base substitutionGAmissense_variantG34S100G>A
COAD-US63338014033380140single base substitutionGAupstream_gene_variant
COAD-US63338152533381525single base substitutionACdownstream_gene_variant
COAD-US63338152533381525single base substitutionACexon_variant
COAD-US63338152533381525single base substitutionACmissense_variantK200N600A>C
COAD-US63338152533381525single base substitutionACupstream_gene_variant
COAD-US63338339933383399single base substitutionCA3_prime_UTR_variant
COAD-US63338339933383399single base substitutionCAdownstream_gene_variant
COAD-US63338339933383399single base substitutionCAexon_variant
COAD-US63338339933383399single base substitutionCAmissense_variantL421I1261C>A
COAD-US63338339933383399single base substitutionCAmissense_variantP456H1367C>A
COAD-US63338339933383399single base substitutionCAmissense_variantP70H209C>A
COAD-US63338343633383436insertion of <=200bp-C3_prime_UTR_variant
COAD-US63338343633383436insertion of <=200bp-Cdownstream_gene_variant
COAD-US63338343633383436insertion of <=200bp-Cexon_variant
COAD-US63338343633383436insertion of <=200bp-Cframeshift_variantD433A?
COAD-US63338343633383436insertion of <=200bp-Cframeshift_variantG468G?
COAD-US63338343633383436insertion of <=200bp-Cframeshift_variantG82G?
COAD-US63338595333385953single base substitutionAGdownstream_gene_variant
COCA-CN63337447933374479single base substitutionAGupstream_gene_variant
COCA-CN63337748433377484single base substitutionGCupstream_gene_variant
COCA-CN63338009933380099single base substitutionCTexon_variant
COCA-CN63338009933380099single base substitutionCTmissense_variantS20F59C>T
COCA-CN63338009933380099single base substitutionCTupstream_gene_variant
COCA-CN63338024733380247single base substitutionCAintron_variant
COCA-CN63338024733380247single base substitutionCAupstream_gene_variant
COCA-CN63338056433380564single base substitutionCTdownstream_gene_variant
COCA-CN63338056433380564single base substitutionCTexon_variant
COCA-CN63338056433380564single base substitutionCTmissense_variantR111C331C>T
COCA-CN63338056433380564single base substitutionCTupstream_gene_variant
COCA-CN63338121733381217single base substitutionCTdownstream_gene_variant
COCA-CN63338121733381217single base substitutionCTexon_variant
COCA-CN63338121733381217single base substitutionCTmissense_variantA157V470C>T
COCA-CN63338121733381217single base substitutionCTupstream_gene_variant
COCA-CN63338123933381239single base substitutionGAdownstream_gene_variant
COCA-CN63338123933381239single base substitutionGAexon_variant
COCA-CN63338123933381239single base substitutionGAsynonymous_variantK164K492G>A
COCA-CN63338123933381239single base substitutionGAupstream_gene_variant
ESAD-UK63337321133373211single base substitutionGCupstream_gene_variant
ESAD-UK63337582233375822single base substitutionCTupstream_gene_variant
ESAD-UK63337654833376548single base substitutionCAupstream_gene_variant
ESAD-UK63337656633376566single base substitutionCTupstream_gene_variant
ESAD-UK63338109633381096single base substitutionCTdownstream_gene_variant
ESAD-UK63338109633381096single base substitutionCTintron_variant
ESAD-UK63338109633381096single base substitutionCTupstream_gene_variant
ESAD-UK63338129833381298single base substitutionGAdownstream_gene_variant
ESAD-UK63338129833381298single base substitutionGAexon_variant
ESAD-UK63338129833381298single base substitutionGAmissense_variantR184Q551G>A
ESAD-UK63338129833381298single base substitutionGAupstream_gene_variant
ESAD-UK63338137033381370single base substitutionTCdownstream_gene_variant
ESAD-UK63338137033381370single base substitutionTCexon_variant
ESAD-UK63338137033381370single base substitutionTCintron_variant
ESAD-UK63338137033381370single base substitutionTCupstream_gene_variant
ESAD-UK63338220033382200single base substitutionGAdownstream_gene_variant
ESAD-UK63338220033382200single base substitutionGAintron_variant
ESAD-UK63338220033382200single base substitutionGAupstream_gene_variant
ESAD-UK63338437633384376single base substitutionACdownstream_gene_variant
ESAD-UK63338668633386686single base substitutionCTdownstream_gene_variant
ESAD-UK63338688333386883single base substitutionGAdownstream_gene_variant
GBM-US63338005933380059single base substitutionCTexon_variant
GBM-US63338005933380059single base substitutionCTsynonymous_variantL7L19C>T
GBM-US63338005933380059single base substitutionCTupstream_gene_variant
GBM-US63338259533382595single base substitutionAGdownstream_gene_variant
GBM-US63338259533382595single base substitutionAGexon_variant
GBM-US63338259533382595single base substitutionAGsynonymous_variantG346G1038A>G
GBM-US63338259533382595single base substitutionAGupstream_gene_variant
GBM-US63338287133382871deletion of <=200bpC-downstream_gene_variant
GBM-US63338287133382871deletion of <=200bpC-exon_variant
GBM-US63338287133382871deletion of <=200bpC-frameshift_variantA393
GBM-US63338287133382871deletion of <=200bpC-frameshift_variantP397
GBM-US63338287133382871deletion of <=200bpC-frameshift_variantS10
GBM-US63338287133382871deletion of <=200bpC-intron_variant
GBM-US63338287133382871deletion of <=200bpC-upstream_gene_variant
KIRC-US63338250633382506insertion of <=200bp-Tdownstream_gene_variant
KIRC-US63338250633382506insertion of <=200bp-Texon_variant
KIRC-US63338250633382506insertion of <=200bp-Tframeshift_variantI317Y?
KIRC-US63338250633382506insertion of <=200bp-Tupstream_gene_variant
KIRC-US63338450333384503single base substitutionTCdownstream_gene_variant
KIRP-US63338032533380325single base substitutionATexon_variant
KIRP-US63338032533380325single base substitutionATmissense_variantD67V200A>T
KIRP-US63338032533380325single base substitutionATupstream_gene_variant
LAML-KR63337748433377484single base substitutionGCupstream_gene_variant
LICA-CN63338531933385319single base substitutionCAdownstream_gene_variant
LICA-FR63337438733374387single base substitutionCAupstream_gene_variant
LINC-JP63337836033378360single base substitutionGTintron_variant
LINC-JP63337836033378360single base substitutionGTupstream_gene_variant
LINC-JP63337836133378361single base substitutionCGintron_variant
LINC-JP63337836133378361single base substitutionCGupstream_gene_variant
LINC-JP63338112133381121single base substitutionAGdownstream_gene_variant
LINC-JP63338112133381121single base substitutionAGintron_variant
LINC-JP63338112133381121single base substitutionAGupstream_gene_variant
LINC-JP63338131533381315single base substitutionTGdownstream_gene_variant
LINC-JP63338131533381315single base substitutionTGexon_variant
LINC-JP63338131533381315single base substitutionTGmissense_variantY190D568T>G
LINC-JP63338131533381315single base substitutionTGupstream_gene_variant
LINC-JP63338278433382784single base substitutionCTdownstream_gene_variant
LINC-JP63338278433382784single base substitutionCTexon_variant
LINC-JP63338278433382784single base substitutionCTmissense_variantA364V1091C>T
LINC-JP63338278433382784single base substitutionCTmissense_variantR368C1102C>T
LINC-JP63338278433382784single base substitutionCTupstream_gene_variant
LINC-JP63338445733384457single base substitutionTCdownstream_gene_variant
LINC-JP63338499233384992single base substitutionTAdownstream_gene_variant
LIRI-JP63337391933373919single base substitutionTCupstream_gene_variant
LIRI-JP63337937433379374single base substitutionGAintron_variant
LIRI-JP63337937433379374single base substitutionGAupstream_gene_variant
LIRI-JP63338169933381699single base substitutionCGdownstream_gene_variant
LIRI-JP63338169933381699single base substitutionCGexon_variant
LIRI-JP63338169933381699single base substitutionCGintron_variant
LIRI-JP63338169933381699single base substitutionCGupstream_gene_variant
LIRI-JP63338205833382058single base substitutionTCdownstream_gene_variant
LIRI-JP63338205833382058single base substitutionTCexon_variant
LIRI-JP63338205833382058single base substitutionTCmissense_variantV264A791T>C
LIRI-JP63338205833382058single base substitutionTCupstream_gene_variant
LIRI-JP63338593633385936single base substitutionACdownstream_gene_variant
LIRI-JP63338691933386919single base substitutionCAdownstream_gene_variant
LUSC-KR63337362033373620single base substitutionGTupstream_gene_variant
LUSC-KR63337805433378054single base substitutionCGupstream_gene_variant
LUSC-US63337339533373395single base substitutionCTupstream_gene_variant
LUSC-US63338129433381294single base substitutionAGdownstream_gene_variant
LUSC-US63338129433381294single base substitutionAGexon_variant
LUSC-US63338129433381294single base substitutionAGmissense_variantN183D547A>G
LUSC-US63338129433381294single base substitutionAGupstream_gene_variant
LUSC-US63338534533385345single base substitutionGAdownstream_gene_variant
MALY-DE63337482933374829single base substitutionTAupstream_gene_variant
MALY-DE63338056433380564single base substitutionCTdownstream_gene_variant
MALY-DE63338056433380564single base substitutionCTexon_variant
MALY-DE63338056433380564single base substitutionCTmissense_variantR111C331C>T
MALY-DE63338056433380564single base substitutionCTupstream_gene_variant
MALY-DE63338420033384200single base substitutionAG3_prime_UTR_variant
MALY-DE63338420033384200single base substitutionAGdownstream_gene_variant
MELA-AU63337373533373735single base substitutionGAupstream_gene_variant
MELA-AU63337378233373782single base substitutionCTupstream_gene_variant
MELA-AU63337411433374114single base substitutionCTupstream_gene_variant
MELA-AU63337473833374738single base substitutionGAupstream_gene_variant
MELA-AU63337498933374989single base substitutionCTupstream_gene_variant
MELA-AU63337522133375222multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU63337522233375222single base substitutionCTupstream_gene_variant
MELA-AU63337530233375302single base substitutionCTupstream_gene_variant
MELA-AU63337598333375983single base substitutionCTupstream_gene_variant
MELA-AU63337647633376476single base substitutionGAupstream_gene_variant
MELA-AU63337680233376802single base substitutionGAupstream_gene_variant
MELA-AU63337694233376942single base substitutionCGupstream_gene_variant
MELA-AU63337716933377169single base substitutionGAupstream_gene_variant
MELA-AU63337830033378300single base substitutionGAintron_variant
MELA-AU63337830033378300single base substitutionGAupstream_gene_variant
MELA-AU63337834033378340single base substitutionCTintron_variant
MELA-AU63337834033378340single base substitutionCTupstream_gene_variant
MELA-AU63338089433380894single base substitutionGAdownstream_gene_variant
MELA-AU63338089433380894single base substitutionGAexon_variant
MELA-AU63338089433380894single base substitutionGAintron_variant
MELA-AU63338089433380894single base substitutionGAupstream_gene_variant
MELA-AU63338262333382624multiple base substitution (>=2bp and <=200bp)GGATdownstream_gene_variant
MELA-AU63338262333382624multiple base substitution (>=2bp and <=200bp)GGATexon_variant
MELA-AU63338262333382624multiple base substitution (>=2bp and <=200bp)GGATintron_variant
MELA-AU63338262333382624multiple base substitution (>=2bp and <=200bp)GGATupstream_gene_variant
MELA-AU63338268933382689single base substitutionGCdownstream_gene_variant
MELA-AU63338268933382689single base substitutionGCexon_variant
MELA-AU63338268933382689single base substitutionGCintron_variant
MELA-AU63338268933382689single base substitutionGCupstream_gene_variant
MELA-AU63338317933383179single base substitutionGTdownstream_gene_variant
MELA-AU63338317933383179single base substitutionGTexon_variant
MELA-AU63338317933383179single base substitutionGTintron_variant
MELA-AU63338331333383313single base substitutionGAdownstream_gene_variant
MELA-AU63338331333383313single base substitutionGAexon_variant
MELA-AU63338331333383313single base substitutionGAintron_variant
MELA-AU63338482633384826single base substitutionGAdownstream_gene_variant
MELA-AU63338493533384935single base substitutionGAdownstream_gene_variant
MELA-AU63338571033385710single base substitutionGAdownstream_gene_variant
MELA-AU63338571133385711single base substitutionGAdownstream_gene_variant
MELA-AU63338599033385990single base substitutionGAdownstream_gene_variant
MELA-AU63338600333386003single base substitutionGAdownstream_gene_variant
MELA-AU63338604833386048single base substitutionTCdownstream_gene_variant
MELA-AU63338622433386224single base substitutionCTdownstream_gene_variant
MELA-AU63338692033386921multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU63338714533387145single base substitutionATdownstream_gene_variant
MELA-AU63338715833387158single base substitutionGAdownstream_gene_variant
MELA-AU63338716133387161single base substitutionGAdownstream_gene_variant
MELA-AU63338727233387272single base substitutionCTdownstream_gene_variant
MELA-AU63338757933387579single base substitutionCTdownstream_gene_variant
MELA-AU63338784133387841single base substitutionCTdownstream_gene_variant
MELA-AU63338896433388964single base substitutionCTdownstream_gene_variant
MELA-AU63338902933389029single base substitutionCTdownstream_gene_variant
ORCA-IN63337364433373644single base substitutionCGupstream_gene_variant
ORCA-IN63338188233381882single base substitutionCTdownstream_gene_variant
ORCA-IN63338188233381882single base substitutionCTexon_variant
ORCA-IN63338188233381882single base substitutionCTmissense_variantR250C748C>T
ORCA-IN63338188233381882single base substitutionCTupstream_gene_variant
ORCA-IN63338665433386654single base substitutionGAdownstream_gene_variant
OV-AU63337796533377965single base substitutionTGupstream_gene_variant
OV-AU63338143233381432single base substitutionGCdownstream_gene_variant
OV-AU63338143233381432single base substitutionGCexon_variant
OV-AU63338143233381432single base substitutionGCintron_variant
OV-AU63338143233381432single base substitutionGCupstream_gene_variant
OV-AU63338589633385896single base substitutionCGdownstream_gene_variant
OV-AU63338602433386024single base substitutionCTdownstream_gene_variant
PACA-AU63337318433373184single base substitutionCTupstream_gene_variant
PACA-AU63337789033377890single base substitutionCAupstream_gene_variant
PACA-AU63338004533380045single base substitutionCTexon_variant
PACA-AU63338004533380045single base substitutionCTmissense_variantA2V5C>T
PACA-AU63338004533380045single base substitutionCTupstream_gene_variant
PACA-AU63338309333383093single base substitutionCT3_prime_UTR_variant
PACA-AU63338309333383093single base substitutionCTdownstream_gene_variant
PACA-AU63338309333383093single base substitutionCTexon_variant
PACA-AU63338309333383093single base substitutionCTintron_variant
PACA-AU63338309333383093single base substitutionCTmissense_variantR441C1321C>T
PACA-AU63338309333383093single base substitutionCTsynonymous_variantP54P162C>T
PACA-AU63338802833388028single base substitutionTCdownstream_gene_variant
PAEN-AU63338259933382599single base substitutionCGdownstream_gene_variant
PAEN-AU63338259933382599single base substitutionCGexon_variant
PAEN-AU63338259933382599single base substitutionCGmissense_variantL348V1042C>G
PAEN-AU63338259933382599single base substitutionCGupstream_gene_variant
PAEN-IT63337388633373886single base substitutionGAupstream_gene_variant
PBCA-DE63338125833381258single base substitutionCAdownstream_gene_variant
PBCA-DE63338125833381258single base substitutionCAexon_variant
PBCA-DE63338125833381258single base substitutionCAmissense_variantL171M511C>A
PBCA-DE63338125833381258single base substitutionCAupstream_gene_variant
PBCA-DE63338890333388903single base substitutionACdownstream_gene_variant
PRAD-US63337745033377450single base substitutionCTupstream_gene_variant
PRAD-US63338381033383810single base substitutionCT3_prime_UTR_variant
PRAD-US63338381033383810single base substitutionCTdownstream_gene_variant
PRAD-US63338381033383810single base substitutionCTexon_variant
PRAD-US63338381033383810single base substitutionCTmissense_variantR161W481C>T
PRAD-US63338381033383810single base substitutionCTmissense_variantR547W1639C>T
PRAD-US63338448633384486single base substitutionGAdownstream_gene_variant
PRAD-US63338508333385083single base substitutionCTdownstream_gene_variant
RECA-EU63337539933375399single base substitutionTGupstream_gene_variant
RECA-EU63337928433379284single base substitutionATintron_variant
RECA-EU63337928433379284single base substitutionATupstream_gene_variant
RECA-EU63337988433379884single base substitutionATintron_variant
RECA-EU63337988433379884single base substitutionATupstream_gene_variant
SKCA-BR63337468533374685single base substitutionCTupstream_gene_variant
SKCA-BR63337512533375125single base substitutionGTupstream_gene_variant
SKCA-BR63337748233377482insertion of <=200bp-CTCTGTGTGTGTGTGTGupstream_gene_variant
SKCA-BR63337748433377484single base substitutionGCupstream_gene_variant
SKCA-BR63337834733378347insertion of <=200bp-GGGAGGGCGGGGCTGGGGCTAACAGCGAGTintron_variant
SKCA-BR63337834733378347insertion of <=200bp-GGGAGGGCGGGGCTGGGGCTAACAGCGAGTupstream_gene_variant
SKCA-BR63338406133384061single base substitutionGC3_prime_UTR_variant
SKCA-BR63338406133384061single base substitutionGCdownstream_gene_variant
SKCA-BR63338406133384061single base substitutionGCexon_variant
SKCA-BR63338727233387272single base substitutionCAdownstream_gene_variant
SKCA-BR63338864633388646single base substitutionTGdownstream_gene_variant
SKCA-BR63338878033388780single base substitutionGAdownstream_gene_variant
SKCA-BR63338921433389214single base substitutionTCdownstream_gene_variant
SKCM-US63337328033373280single base substitutionCTupstream_gene_variant
SKCM-US63337403333374033single base substitutionGAupstream_gene_variant
SKCM-US63337411433374114single base substitutionCTupstream_gene_variant
SKCM-US63337415833374158single base substitutionCTupstream_gene_variant
SKCM-US63337438133374381single base substitutionCTupstream_gene_variant
SKCM-US63337464933374649single base substitutionCTupstream_gene_variant
SKCM-US63338005033380050deletion of <=200bpC-exon_variant
SKCM-US63338005033380050deletion of <=200bpC-frameshift_variantP4
SKCM-US63338005033380050deletion of <=200bpC-upstream_gene_variant
SKCM-US63338009733380097single base substitutionTGexon_variant
SKCM-US63338009733380097single base substitutionTGsynonymous_variantA19A57T>G
SKCM-US63338009733380097single base substitutionTGupstream_gene_variant
SKCM-US63338206633382066single base substitutionATdownstream_gene_variant
SKCM-US63338206633382066single base substitutionATexon_variant
SKCM-US63338206633382066single base substitutionATstop_gainedK267*799A>T
SKCM-US63338206633382066single base substitutionATupstream_gene_variant
SKCM-US63338258233382582single base substitutionCTdownstream_gene_variant
SKCM-US63338258233382582single base substitutionCTexon_variant
SKCM-US63338258233382582single base substitutionCTmissense_variantP342L1025C>T
SKCM-US63338258233382582single base substitutionCTupstream_gene_variant
SKCM-US63338301733383017single base substitutionAGdownstream_gene_variant
SKCM-US63338301733383017single base substitutionAGexon_variant
SKCM-US63338301733383017single base substitutionAGintron_variant
SKCM-US63338301733383017single base substitutionAGmissense_variantQ29R86A>G
SKCM-US63338301733383017single base substitutionAGsynonymous_variantS415S1245A>G
SKCM-US63338301733383017single base substitutionAGupstream_gene_variant
SKCM-US63338303333383033single base substitutionCTdownstream_gene_variant
SKCM-US63338303333383033single base substitutionCTexon_variant
SKCM-US63338303333383033single base substitutionCTintron_variant
SKCM-US63338303333383033single base substitutionCTmissense_variantP421S1261C>T
SKCM-US63338303333383033single base substitutionCTsplice_region_variant
SKCM-US63338303333383033single base substitutionCTsynonymous_variantP34P102C>T
SKCM-US63338337333383373single base substitutionCT3_prime_UTR_variant
SKCM-US63338337333383373single base substitutionCTdownstream_gene_variant
SKCM-US63338337333383373single base substitutionCTexon_variant
SKCM-US63338337333383373single base substitutionCTmissense_variantP412L1235C>T
SKCM-US63338337333383373single base substitutionCTsynonymous_variantP447P1341C>T
SKCM-US63338337333383373single base substitutionCTsynonymous_variantP61P183C>T
SKCM-US63338442833384428single base substitutionCTdownstream_gene_variant
SKCM-US63338452133384521single base substitutionAGdownstream_gene_variant
STAD-US63337335733373357single base substitutionGTupstream_gene_variant
STAD-US63337399833373998single base substitutionGTupstream_gene_variant
STAD-US63337404533374045single base substitutionCTupstream_gene_variant
STAD-US63338002633380026deletion of <=200bpC-splice_region_variant
STAD-US63338002633380026deletion of <=200bpC-upstream_gene_variant
STAD-US63338015133380151single base substitutionGAexon_variant
STAD-US63338015133380151single base substitutionGAsynonymous_variantV37V111G>A
STAD-US63338015133380151single base substitutionGAupstream_gene_variant
STAD-US63338104533381045single base substitutionGAdownstream_gene_variant
STAD-US63338104533381045single base substitutionGAexon_variant
STAD-US63338104533381045single base substitutionGAmissense_variantR137H410G>A
STAD-US63338104533381045single base substitutionGAupstream_gene_variant
STAD-US63338363733383637deletion of <=200bpC-3_prime_UTR_variant
STAD-US63338363733383637deletion of <=200bpC-downstream_gene_variant
STAD-US63338363733383637deletion of <=200bpC-exon_variant
STAD-US63338363733383637deletion of <=200bpC-frameshift_variantA103
STAD-US63338363733383637deletion of <=200bpC-frameshift_variantA489
STAD-US63338363733383637deletion of <=200bpC-frameshift_variantP454
STAD-US63338374733383747deletion of <=200bpG-3_prime_UTR_variant
STAD-US63338374733383747deletion of <=200bpG-downstream_gene_variant
STAD-US63338374733383747deletion of <=200bpG-exon_variant
STAD-US63338374733383747deletion of <=200bpG-frameshift_variantG140
STAD-US63338374733383747deletion of <=200bpG-frameshift_variantG526
STAD-US63338380833383830deletion of <=200bpCTCGGAGAGTACGGCCTGATGGC-3_prime_UTR_variant
STAD-US63338380833383830deletion of <=200bpCTCGGAGAGTACGGCCTGATGGC-downstream_gene_variant
STAD-US63338380833383830deletion of <=200bpCTCGGAGAGTACGGCCTGATGGC-exon_variant
STAD-US63338380833383830deletion of <=200bpCTCGGAGAGTACGGCCTGATGGC-frameshift_variantARRVRPDG160
STAD-US63338380833383830deletion of <=200bpCTCGGAGAGTACGGCCTGATGGC-frameshift_variantARRVRPDG546
STAD-US63338529133385291single base substitutionCTdownstream_gene_variant
UCEC-US63337328033373280single base substitutionCTupstream_gene_variant
UCEC-US63337336033373360single base substitutionGAupstream_gene_variant
UCEC-US63337421733374217single base substitutionGAupstream_gene_variant
UCEC-US63337438733374387single base substitutionCTupstream_gene_variant
UCEC-US63337464433374644single base substitutionGAupstream_gene_variant
UCEC-US63337745033377450single base substitutionCTupstream_gene_variant
UCEC-US63338056433380564single base substitutionCTdownstream_gene_variant
UCEC-US63338056433380564single base substitutionCTexon_variant
UCEC-US63338056433380564single base substitutionCTmissense_variantR111C331C>T
UCEC-US63338056433380564single base substitutionCTupstream_gene_variant
UCEC-US63338125133381251single base substitutionAGdownstream_gene_variant
UCEC-US63338125133381251single base substitutionAGexon_variant
UCEC-US63338125133381251single base substitutionAGsynonymous_variantP168P504A>G
UCEC-US63338125133381251single base substitutionAGupstream_gene_variant
UCEC-US63338252033382520single base substitutionGAdownstream_gene_variant
UCEC-US63338252033382520single base substitutionGAexon_variant
UCEC-US63338252033382520single base substitutionGAsynonymous_variantE321E963G>A
UCEC-US63338252033382520single base substitutionGAupstream_gene_variant
UCEC-US63338341233383412single base substitutionCT3_prime_UTR_variant
UCEC-US63338341233383412single base substitutionCTdownstream_gene_variant
UCEC-US63338341233383412single base substitutionCTexon_variant
UCEC-US63338341233383412single base substitutionCTmissense_variantP425L1274C>T
UCEC-US63338341233383412single base substitutionCTsynonymous_variantT460T1380C>T
UCEC-US63338341233383412single base substitutionCTsynonymous_variantT74T222C>T
UCEC-US63338366133383661single base substitutionCT3_prime_UTR_variant
UCEC-US63338366133383661single base substitutionCTdownstream_gene_variant
UCEC-US63338366133383661single base substitutionCTexon_variant
UCEC-US63338366133383661single base substitutionCTmissense_variantS111F332C>T
UCEC-US63338366133383661single base substitutionCTmissense_variantS497F1490C>T
UCEC-US63338382033383820single base substitutionGT3_prime_UTR_variant
UCEC-US63338382033383820single base substitutionGTdownstream_gene_variant
UCEC-US63338382033383820single base substitutionGTexon_variant
UCEC-US63338382033383820single base substitutionGTmissense_variantR164L491G>T
UCEC-US63338382033383820single base substitutionGTmissense_variantR550L1649G>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
GC1_TCOSM150072c.519G>Cp.G173GSubstitution - coding silent6:33413489-33413489+
100COSM145776c.330T>Ap.C110*Substitution - Nonsense6:33412786-33412786+
TCGA-EK-A2RK-01COSM4829073c.1572G>Tp.G524GSubstitution - coding silent6:33415966-33415966+
PTC-7CCOSM4161071c.1686A>Gp.G562GSubstitution - coding silent6:33416080-33416080+
Pat_37_BCOSM253062c.1466delCp.H491fs*3Deletion - Frameshift6:33415860-33415860+
Pat_41_BCOSM5870397c.485G>Ap.G162DSubstitution - Missense6:33413455-33413455+
HCC2998COSM3349899c.748C>Tp.R250CSubstitution - Missense6:33414105-33414105+
CSCC-29-TCOSM4515444c.1111_1112CC>TTp.P371LSubstitution - Missense6:33415016-33415017+
CSCC-47-TCOSM3349889c.307C>Tp.R103WSubstitution - Missense6:33412763-33412763+
PM-1COSM5620059c.1005G>Tp.M335ISubstitution - Missense6:33414785-33414785+
TCGA-CA-6717-01COSM1443802c.600A>Cp.K200NSubstitution - Missense6:33413748-33413748+
TCGA-E9-A1NI-01COSM3349881c.9_10insCp.R6fs*38Insertion - Frameshift6:33412272-33412273+
T183MCOSM307525c.967_969delAAGp.K324delKDeletion - In frame6:33414747-33414749+
LUAD-S01315COSM385698c.127G>Cp.D43HSubstitution - Missense6:33412390-33412390+
HCT15COSM3349896c.575G>Ap.G192DSubstitution - Missense6:33413545-33413545+
SJDES013COSM4586657c.1490C>Gp.S497CSubstitution - Missense6:33415884-33415884+
TCGA-G2-A2EO-01COSM1312087c.1583G>Cp.G528ASubstitution - Missense6:33415977-33415977+
pfg016TCOSM1643030c.17G>Ap.R6QSubstitution - Missense6:33412280-33412280+
TCGA-60-2715-01COSM742330c.547A>Gp.N183DSubstitution - Missense6:33413517-33413517+
OV207COSM252715c.1466C>Tp.A489VSubstitution - Missense6:33415860-33415860+
RMS2054COSM5880750c.491A>Gp.K164RSubstitution - Missense6:33413461-33413461+
TCGA-A6-5665-01COSM1443803c.1367C>Ap.P456HSubstitution - Missense6:33415622-33415622+
sysucc-1317TCOSM5450240c.470C>Tp.A157VSubstitution - Missense6:33413440-33413440+
TCGA-J9-A52C-01COSM4877567c.1639C>Tp.R547WSubstitution - Missense6:33416033-33416033+
TCGA-B5-A0JY-01COSM1078042c.1380C>Tp.T460TSubstitution - coding silent6:33415635-33415635+
CSCC-38-TCOSM4506817c.72C>Tp.T24TSubstitution - coding silent6:33412335-33412335+
LS174TCOSM4614352c.715delGp.G240fs*137Deletion - Frameshift6:33414072-33414072+
CSCC-31-TCOSM4446810c.160-3C>Tp.?Unknown6:33412505-33412505+
8013222COSM3394127c.1321C>Tp.R441CSubstitution - Missense6:33415316-33415316+
TCGA-AP-A0LM-01COSM1078044c.1490C>Tp.S497FSubstitution - Missense6:33415884-33415884+
HCC98COSM1621518c.568T>Gp.Y190DSubstitution - Missense6:33413538-33413538+
MO_1215COSM5566312c.1556G>Ap.R519HSubstitution - Missense6:33415950-33415950+
LIM1215COSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
TCGA-BP-5181-01COSM1496340c.1008T>Cp.P336PSubstitution - coding silent6:33414788-33414788+
TCGA-BQ-7051-01COSM3349885c.200A>Tp.D67VSubstitution - Missense6:33412548-33412548+
TCGA-08-0386-01COSM3411009c.19C>Tp.L7LSubstitution - coding silent6:33412282-33412282+
P122COSM1735912c.47delGp.D17fs*135Deletion - Frameshift6:33412310-33412310+
LS180COSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
WA46COSM241127c.751T>Ap.W251RSubstitution - Missense6:33414108-33414108+
TCGA-EE-A29M-06COSM3625727c.1261C>Tp.P421SSubstitution - Missense6:33415256-33415256+
WA14COSM241126c.667C>Tp.L223FSubstitution - Missense6:33413815-33413815+
Pat_32_ACOSM5870398c.797G>Ap.C266YSubstitution - Missense6:33414287-33414287+
ESCC_109COSM5191510c.89G>Ap.R30QSubstitution - Missense6:33412352-33412352+
SC_9107COSM5566312c.1556G>Ap.R519HSubstitution - Missense6:33415950-33415950+
TCGA-EE-A2GH-06COSM3625725c.799A>Tp.K267*Substitution - Nonsense6:33414289-33414289+
HCC98TCOSM1621518c.568T>Gp.Y190DSubstitution - Missense6:33413538-33413538+
TCGA-G4-6315-01COSM1443801c.100G>Ap.G34SSubstitution - Missense6:33412363-33412363+
S00539COSM5658885c.772G>Tp.V258FSubstitution - Missense6:33414262-33414262+
TCGA-BR-4184-01COSM3873185c.111G>Ap.V37VSubstitution - coding silent6:33412374-33412374+
HX13TCOSM1621519c.1102C>Tp.R368CSubstitution - Missense6:33415007-33415007+
LS180COSM4614352c.715delGp.G240fs*137Deletion - Frameshift6:33414072-33414072+
TCGA-G2-A2EO-01COSM1312084c.327G>Ap.K109KSubstitution - coding silent6:33412783-33412783+
DLD1COSM3349896c.575G>Ap.G192DSubstitution - Missense6:33413545-33413545+
PD22357aCOSM5784076c.786C>Tp.L262LSubstitution - coding silent6:33414276-33414276+
RK308_C01COSM3745193c.791T>Cp.V264ASubstitution - Missense6:33414281-33414281+
TCGA-D5-6928-01COSM5165386c.1404_1405insCp.D471fs*17Insertion - Frameshift6:33415659-33415660+
TCGA-36-2533-01COSM1329752c.870G>Ap.L290LSubstitution - coding silent6:33414360-33414360+
HN_62505COSM121538c.1662T>Cp.S554SSubstitution - coding silent6:33416056-33416056+
8051729COSM4139285c.1042C>Gp.L348VSubstitution - Missense6:33414822-33414822+
Gp2DCOSM3349897c.674A>Gp.Y225CSubstitution - Missense6:33413822-33413822+
OSCC-GB_01350111COSM3349899c.748C>Tp.R250CSubstitution - Missense6:33414105-33414105+
ME009TCOSM223079c.872G>Ap.G291ESubstitution - Missense6:33414362-33414362+
ccRCC-38COSM1663469c.789T>Ap.S263RSubstitution - Missense6:33414279-33414279+
TCGA-EE-A3JA-06COSM3625726c.1025C>Tp.P342LSubstitution - Missense6:33414805-33414805+
TCGA-AP-A059-01COSM1078040c.963G>Ap.E321ESubstitution - coding silent6:33414743-33414743+
TCGA-HU-A4G8-01COSM3873186c.410G>Ap.R137HSubstitution - Missense6:33413268-33413268+
UM-SCC-2COSM4599514c.322G>Cp.E108QSubstitution - Missense6:33412778-33412778+
LUAD-S01413COSM347330c.1459A>Gp.K487ESubstitution - Missense6:33415853-33415853+
TCGA-AP-A0LM-01COSM1078046c.1649G>Tp.R550LSubstitution - Missense6:33416043-33416043+
PTC-7CCOSM4161070c.844T>Gp.S282ASubstitution - Missense6:33414334-33414334+
C91COSM4445052c.902G>Ap.R301HSubstitution - Missense6:33414502-33414502+
SJRHB040COSM3737884c.538C>Tp.H180YSubstitution - Missense6:33413508-33413508+
TCGA-G2-A2EO-01COSM1312086c.1572G>Ap.G524GSubstitution - coding silent6:33415966-33415966+
8016470COSM3394126c.5C>Tp.A2VSubstitution - Missense6:33412268-33412268+
SW948COSM3349898c.734G>Ap.R245QSubstitution - Missense6:33414091-33414091+
RKOCOSM4648988c.749G>Ap.R250HSubstitution - Missense6:33414106-33414106+
tumor_4165379COSM1078036c.331C>Tp.R111CSubstitution - Missense6:33412787-33412787+
ESCC_76COSM5635244c.987T>Gp.F329LSubstitution - Missense6:33414767-33414767+
TCGA-A6-6781-01COSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
PD24337aCOSM5791146c.944+1G>Cp.?Unknown6:33414545-33414545+
CSCC-29-TCOSM4478090c.220C>Tp.L74LSubstitution - coding silent6:33412568-33412568+
Pat_59_ACOSM5870399c.1294G>Ap.G432SSubstitution - Missense6:33415289-33415289+
TCGA-EE-A29N-06COSM3625724c.57T>Gp.A19ASubstitution - coding silent6:33412320-33412320+
Pat_26_ACOSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
CAL27COSM3349886c.224delGp.W75fs*1Deletion - Frameshift6:33412572-33412572+
TCGA-06-5417-01COSM3411010c.1038A>Gp.G346GSubstitution - coding silent6:33414818-33414818+
TCGA-AX-A0J1-01COSM1078036c.331C>Tp.R111CSubstitution - Missense6:33412787-33412787+
XHDG08COSM4768504c.210G>Ap.Q70QSubstitution - coding silent6:33412558-33412558+
T183COSM307525c.967_969delAAGp.K324delKDeletion - In frame6:33414747-33414749+
Gp5DCOSM3349897c.674A>Gp.Y225CSubstitution - Missense6:33413822-33413822+
sysucc-311TCOSM1078036c.331C>Tp.R111CSubstitution - Missense6:33412787-33412787+
TCGA-G2-A2EO-01COSM1312085c.1476G>Cp.S492SSubstitution - coding silent6:33415870-33415870+
TCGA-CZ-5453-01COSM483946c.835C>Tp.P279SSubstitution - Missense6:33414325-33414325+
UM-SCC-4COSM3349900c.820G>Ap.D274NSubstitution - Missense6:33414310-33414310+
TCGA-AZ-6598-01COSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
100-02-2TDCOSM145776c.330T>Ap.C110*Substitution - Nonsense6:33412786-33412786+
TCGA-A7-A4SE-01COSM3830264c.938A>Gp.K313RSubstitution - Missense6:33414538-33414538+
LS174TCOSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
TCGA-EE-A2GJ-06COSM3625728c.1341C>Tp.P447PSubstitution - coding silent6:33415596-33415596+
Pat_22_BCOSM1443800c.10delCp.R6fs*2Deletion - Frameshift6:33412273-33412273+
TCGA-AC-A3W6-01COSM3349899c.748C>Tp.R250CSubstitution - Missense6:33414105-33414105+
TCGA-D1-A176-01COSM1078038c.504A>Gp.P168PSubstitution - coding silent6:33413474-33413474+
CSCC-35-TCOSM4490425c.363C>Ap.P121PSubstitution - coding silent6:33413221-33413221+
sysucc-923TCOSM5463965c.492G>Ap.K164KSubstitution - coding silent6:33413462-33413462+
TCGA-GV-A3JZ-01COSM1312083c.88C>Tp.R30WSubstitution - Missense6:33412351-33412351+
TCGA-EE-A2MJ-06COSM3921529c.1245A>Gp.S415SSubstitution - coding silent6:33415240-33415240+
OV207COSM253062c.1466delCp.H491fs*3Deletion - Frameshift6:33415860-33415860+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.1662046p21.36028811528267|dbSNP|BC008834|C/G|non-coding||2006|Candidate
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.N183Dc.547A>G633381294LUSC
AGSynonymousp.G148Gc.444A>G633381191CM
AGSynonymousp.G346Gc.1038A>G633382595GBM
AGSynonymousp.P168Pc.504A>G633381251UCEC
AGSynonymousp.S415Sc.1245A>G633383017CM
ATNonsensep.K267*c.799A>T633382066CM
C-Frameshiftp.E398Sfs*96c.1191delC633382871GBM
CTIntronicSNV.c.338-53C>T633380920CM
CTMissensep.P342Lc.1025C>T633382582CM
CTMissensep.P421Sc.1261C>T633383033CM
CTMissensep.P486Sc.1456C>T633383627CM
CTMissensep.R30Wc.88C>T633380128BLCA
CTSynonymousp.L7Lc.19C>T633380059GBM
CTSynonymousp.P447Pc.1341C>T633383373CM
CTSynonymousp.R394Rc.1182C>T633382864LUAD
GAMissensep.C107Yc.320G>A633380553LUAD
GAMissensep.G291Ec.872G>A633382139CM
GAMissensep.R543Qc.1628G>A633383799COREAD
GAMissensep.R6Qc.17G>A633380057STAD
GASynonymousp.G524Gc.1572G>A633383743BLCA
GASynonymousp.K109Kc.327G>A633380560BLCA
GCMissensep.G528Ac.1583G>C633383754BLCA
GCSpliceAcceptorSNV.c.684-1G>C633381817STAD
GCSynonymousp.S492Sc.1476G>C633383647BLCA
TAMissensep.C327Sc.979T>A633382536HNSC
TCSynonymousp.S554Sc.1662T>C633383833HNSC
-TFrameshiftp.S318Ffs*6c.952dupT633382507RCCC
TGSynonymousp.A19Ac.57T>G633380097CM