Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs BLCA 23 56590553 56590553 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chrX:56590553G>C c.247G>C c.(247-249)Gat>Cat p.D83H BLCA 23 56590641 56590641 + Missense_Mutation SNP C C G TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chrX:56590641C>G c.335C>G c.(334-336)tCc>tGc p.S112C BLCA 23 56590814 56590814 + Missense_Mutation SNP C C G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chrX:56590814C>G c.508C>G c.(508-510)Cag>Gag p.Q170E BLCA 23 56590882 56590882 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chrX:56590882G>C c.576G>C c.(574-576)caG>caC p.Q192H BLCA 23 56590917 56590917 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chrX:56590917T>C c.611T>C c.(610-612)cTc>cCc p.L204P BLCA 23 56591017 56591017 + Missense_Mutation SNP T T G TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chrX:56591017T>G c.711T>G c.(709-711)atT>atG p.I237M BLCA 23 56591246 56591246 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chrX:56591246G>A c.940G>A c.(940-942)Gat>Aat p.D314N BLCA 23 56591564 56591564 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chrX:56591564C>G c.1258C>G c.(1258-1260)Cct>Gct p.P420A BLCA 23 56591910 56591910 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 g.chrX:56591910G>A c.1604G>A c.(1603-1605)gGg>gAg p.G535E BRCA 23 56590878 56590878 + Missense_Mutation SNP T T G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 g.chrX:56590878T>G c.572T>G c.(571-573)gTt>gGt p.V191G BRCA 23 56591370 56591370 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:56591370C>A c.1064C>A c.(1063-1065)gCt>gAt p.A355D CESC 23 56590601 56590601 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 g.chrX:56590601C>T c.295C>T c.(295-297)Cac>Tac p.H99Y COAD 23 56590913 56590913 + Nonsense_Mutation SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chrX:56590913C>T c.607C>T c.(607-609)Cag>Tag p.Q203* COAD 23 56591117 56591117 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:56591117A>G c.811A>G c.(811-813)Atg>Gtg p.M271V COAD 23 56591146 56591158 + Frame_Shift_Del DEL GAATGCCGCACAA GAATGCCGCACAA - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:56591146_56591158delGAATGCCGCACAA c.840_852delGAATGCCGCACAA c.(838-852)ctgaatgccgcacaafs p.LNAAQ280fs COAD 23 56591152 56591152 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chrX:56591152C>T c.846C>T c.(844-846)gcC>gcT p.A282A COAD 23 56591172 56591172 + Missense_Mutation SNP G G T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chrX:56591172G>T c.866G>T c.(865-867)gGt>gTt p.G289V COAD 23 56591232 56591232 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:56591232G>A c.926G>A c.(925-927)cGc>cAc p.R309H COAD 23 56591458 56591458 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:56591458G>A c.1152G>A c.(1150-1152)caG>caA p.Q384Q COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56590491 56590491 + Missense_Mutation SNP C C T TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chrX:56590491C>T c.185C>T c.(184-186)tCg>tTg p.S62L COADREAD 23 56590913 56590913 + Nonsense_Mutation SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chrX:56590913C>T c.607C>T c.(607-609)Cag>Tag p.Q203* COADREAD 23 56591117 56591117 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:56591117A>G c.811A>G c.(811-813)Atg>Gtg p.M271V COADREAD 23 56591146 56591158 + Frame_Shift_Del DEL GAATGCCGCACAA GAATGCCGCACAA - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:56591146_56591158delGAATGCCGCACAA c.840_852delGAATGCCGCACAA c.(838-852)ctgaatgccgcacaafs p.LNAAQ280fs COADREAD 23 56591152 56591152 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chrX:56591152C>T c.846C>T c.(844-846)gcC>gcT p.A282A COADREAD 23 56591172 56591172 + Missense_Mutation SNP G G T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chrX:56591172G>T c.866G>T c.(865-867)gGt>gTt p.G289V COADREAD 23 56591232 56591232 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:56591232G>A c.926G>A c.(925-927)cGc>cAc p.R309H COADREAD 23 56591458 56591458 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:56591458G>A c.1152G>A c.(1150-1152)caG>caA p.Q384Q COADREAD 23 56591723 56591724 + Frame_Shift_Ins INS - - T TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chrX:56591723_56591724insT c.1417_1418insT c.(1417-1419)attfs p.I473fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs COADREAD 23 56591890 56591890 + Silent SNP C C T TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chrX:56591890C>T c.1584C>T c.(1582-1584)acC>acT p.T528T DLBC 23 56591532 56591532 + Missense_Mutation SNP T T C TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chrX:56591532T>C c.1226T>C c.(1225-1227)aTg>aCg p.M409T ESCA 23 56590987 56590987 + Frame_Shift_Del DEL C C - TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chrX:56590987delC c.681delC c.(679-681)aacfs p.N227fs ESCA 23 56591114 56591114 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chrX:56591114C>T c.808C>T c.(808-810)Cgc>Tgc p.R270C ESCA 23 56591387 56591387 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chrX:56591387G>T c.1081G>T c.(1081-1083)Gcc>Tcc p.A361S ESCA 23 56591895 56591895 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chrX:56591895C>G c.1589C>G c.(1588-1590)tCt>tGt p.S530C GBM 23 56590893 56590893 + Missense_Mutation SNP C C T TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chrX:56590893C>T c.587C>T c.(586-588)tCg>tTg p.S196L GBM 23 56592046 56592046 + Silent SNP C C T TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:56592046C>T c.1740C>T c.(1738-1740)gtC>gtT p.V580V GBMLGG 23 56590705 56590705 + Silent SNP C C T TCGA-HW-A5KL-01A-11D-A27K-08 TCGA-HW-A5KL-10A-01D-A27N-08 g.chrX:56590705C>T c.399C>T c.(397-399)tcC>tcT p.S133S GBMLGG 23 56590893 56590893 + Missense_Mutation SNP C C T TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chrX:56590893C>T c.587C>T c.(586-588)tCg>tTg p.S196L GBMLGG 23 56590893 56590893 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:56590893C>T c.587C>T c.(586-588)tCg>tTg p.S196L GBMLGG 23 56592046 56592046 + Silent SNP C C T TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:56592046C>T c.1740C>T c.(1738-1740)gtC>gtT p.V580V HNSC 23 56590909 56590909 + Missense_Mutation SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chrX:56590909G>T c.603G>T c.(601-603)atG>atT p.M201I HNSC 23 56591210 56591210 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chrX:56591210G>A c.904G>A c.(904-906)Ggg>Agg p.G302R HNSC 23 56591223 56591223 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chrX:56591223A>T c.917A>T c.(916-918)cAg>cTg p.Q306L HNSC 23 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chrX:56591874delC c.1568delC c.(1567-1569)gccfs p.A523fs KIPAN 23 56592091 56592092 + Frame_Shift_Del DEL AA AA - TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chrX:56592091_56592092delAA c.1785_1786delAA c.(1783-1788)ttaaacfs p.N596fs KIRP 23 56592091 56592092 + Frame_Shift_Del DEL AA AA - TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chrX:56592091_56592092delAA c.1785_1786delAA c.(1783-1788)ttaaacfs p.N596fs LGG 23 56590705 56590705 + Silent SNP C C T TCGA-HW-A5KL-01A-11D-A27K-08 TCGA-HW-A5KL-10A-01D-A27N-08 g.chrX:56590705C>T c.399C>T c.(397-399)tcC>tcT p.S133S LGG 23 56590893 56590893 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:56590893C>T c.587C>T c.(586-588)tCg>tTg p.S196L LIHC 23 56590709 56590709 + Missense_Mutation SNP C C G TCGA-CC-A5UC-01A-11D-A28X-10 TCGA-CC-A5UC-10A-01D-A28X-10 g.chrX:56590709C>G c.403C>G c.(403-405)Cct>Gct p.P135A LUAD 23 56590574 56590574 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chrX:56590574C>A c.268C>A c.(268-270)Cat>Aat p.H90N LUAD 23 56590789 56590789 + Silent SNP G G T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chrX:56590789G>T c.483G>T c.(481-483)tcG>tcT p.S161S LUAD 23 56591011 56591011 + Silent SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chrX:56591011C>A c.705C>A c.(703-705)ctC>ctA p.L235L LUAD 23 56591074 56591074 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chrX:56591074C>G c.768C>G c.(766-768)agC>agG p.S256R LUAD 23 56591111 56591111 + Missense_Mutation SNP C C T TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chrX:56591111C>T c.805C>T c.(805-807)Cgg>Tgg p.R269W LUAD 23 56591133 56591133 + Missense_Mutation SNP A A C TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chrX:56591133A>C c.827A>C c.(826-828)cAa>cCa p.Q276P LUAD 23 56591151 56591151 + Missense_Mutation SNP C C T TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chrX:56591151C>T c.845C>T c.(844-846)gCc>gTc p.A282V LUAD 23 56591287 56591287 + Missense_Mutation SNP G G T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chrX:56591287G>T c.981G>T c.(979-981)caG>caT p.Q327H LUAD 23 56591354 56591354 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 g.chrX:56591354A>G c.1048A>G c.(1048-1050)Act>Gct p.T350A LUAD 23 56591547 56591547 + Missense_Mutation SNP C C G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chrX:56591547C>G c.1241C>G c.(1240-1242)cCg>cGg p.P414R LUAD 23 56591554 56591554 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 g.chrX:56591554T>C c.1248T>C c.(1246-1248)ttT>ttC p.F416F LUAD 23 56591627 56591627 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chrX:56591627G>T c.1321G>T c.(1321-1323)Gac>Tac p.D441Y LUAD 23 56591819 56591819 + Missense_Mutation SNP G G T TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chrX:56591819G>T c.1513G>T c.(1513-1515)Gtc>Ttc p.V505F LUAD 23 56591882 56591882 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chrX:56591882G>T c.1576G>T c.(1576-1578)Ggc>Tgc p.G526C LUSC 23 56590724 56590724 + Missense_Mutation SNP A A T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chrX:56590724A>T c.418A>T c.(418-420)Agc>Tgc p.S140C LUSC 23 56591546 56591546 + Missense_Mutation SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chrX:56591546C>T c.1240C>T c.(1240-1242)Ccg>Tcg p.P414S LUSC 23 56591637 56591637 + Missense_Mutation SNP C C T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chrX:56591637C>T c.1331C>T c.(1330-1332)tCa>tTa p.S444L OV 23 56591172 56591172 + Missense_Mutation SNP G G T TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 g.chrX:56591172G>T c.866G>T c.(865-867)gGt>gTt p.G289V PRAD 23 56591153 56591153 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chrX:56591153G>A c.847G>A c.(847-849)Gca>Aca p.A283T READ 23 56590491 56590491 + Missense_Mutation SNP C C T TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chrX:56590491C>T c.185C>T c.(184-186)tCg>tTg p.S62L READ 23 56591723 56591724 + Frame_Shift_Ins INS - - T TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chrX:56591723_56591724insT c.1417_1418insT c.(1417-1419)attfs p.I473fs READ 23 56591890 56591890 + Silent SNP C C T TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chrX:56591890C>T c.1584C>T c.(1582-1584)acC>acT p.T528T SARC 23 56590841 56590841 + Missense_Mutation SNP C C A TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 g.chrX:56590841C>A c.535C>A c.(535-537)Cct>Act p.P179T SARC 23 56592114 56592114 + Missense_Mutation SNP C C G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 g.chrX:56592114C>G c.1808C>G c.(1807-1809)gCc>gGc p.A603G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 56590553 56590553 single base substitution G C missense_variant D83H 247G>C BLCA-US X 56590882 56590882 single base substitution G C missense_variant Q192H 576G>C BLCA-US X 56590917 56590917 single base substitution T C missense_variant L204P 611T>C BLCA-US X 56591246 56591246 single base substitution G A missense_variant D314N 940G>A BLCA-US X 56591564 56591564 single base substitution C G missense_variant P420A 1258C>G BLCA-US X 56591910 56591910 single base substitution G A missense_variant G535E 1604G>A BRCA-EU X 56585140 56585140 single base substitution G T upstream_gene_variant BRCA-EU X 56585212 56585212 single base substitution C G upstream_gene_variant BRCA-EU X 56585939 56585939 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 56586303 56586303 single base substitution G A upstream_gene_variant BRCA-EU X 56587519 56587519 single base substitution T C upstream_gene_variant BRCA-EU X 56588685 56588685 single base substitution C T upstream_gene_variant BRCA-EU X 56589171 56589171 single base substitution G A upstream_gene_variant BRCA-EU X 56589281 56589281 single base substitution A G upstream_gene_variant BRCA-EU X 56589409 56589409 single base substitution G C upstream_gene_variant BRCA-EU X 56589863 56589863 single base substitution C A upstream_gene_variant BRCA-EU X 56589932 56589932 single base substitution C A upstream_gene_variant BRCA-EU X 56590705 56590705 single base substitution C A synonymous_variant S133S 399C>A BRCA-EU X 56590800 56590800 single base substitution C G missense_variant S165C 494C>G BRCA-EU X 56591366 56591366 single base substitution G A missense_variant V354I 1060G>A BRCA-EU X 56592085 56592085 single base substitution G C synonymous_variant G593G 1779G>C BRCA-EU X 56593593 56593593 insertion of <=200bp - TCCC downstream_gene_variant BRCA-EU X 56595367 56595367 single base substitution G A downstream_gene_variant BRCA-FR X 56585140 56585140 single base substitution G T upstream_gene_variant BRCA-FR X 56586891 56586891 single base substitution G A upstream_gene_variant BRCA-FR X 56589281 56589281 single base substitution A G upstream_gene_variant BRCA-FR X 56589409 56589409 single base substitution G C upstream_gene_variant BRCA-FR X 56591366 56591366 single base substitution G A missense_variant V354I 1060G>A BRCA-FR X 56592085 56592085 single base substitution G C synonymous_variant G593G 1779G>C BRCA-FR X 56595367 56595367 single base substitution G A downstream_gene_variant BRCA-UK X 56589171 56589171 single base substitution G A upstream_gene_variant BRCA-UK X 56590794 56590794 single base substitution A T missense_variant N163I 488A>T BRCA-US X 56590878 56590878 single base substitution T G missense_variant V191G 572T>G BRCA-US X 56591370 56591370 single base substitution C A missense_variant A355D 1064C>A BTCA-JP X 56590486 56590486 single base substitution G T synonymous_variant A60A 180G>T BTCA-JP X 56591035 56591035 single base substitution G A missense_variant M243I 729G>A BTCA-JP X 56591484 56591484 single base substitution G A missense_variant R393K 1178G>A BTCA-JP X 56591759 56591759 single base substitution C A missense_variant L485M 1453C>A CESC-US X 56590601 56590601 single base substitution C T missense_variant H99Y 295C>T CLLE-ES X 56592726 56592726 single base substitution G A 3_prime_UTR_variant CLLE-ES X 56594120 56594120 single base substitution A G downstream_gene_variant CLLE-ES X 56597381 56597381 single base substitution G A downstream_gene_variant COAD-US X 56590913 56590913 single base substitution C T stop_gained Q203* 607C>T COAD-US X 56591146 56591158 deletion of <=200bp GAATGCCGCACAA - frameshift_variant LNAAQ280 COAD-US X 56591152 56591152 single base substitution C T synonymous_variant A282A 846C>T COAD-US X 56591874 56591874 deletion of <=200bp C - frameshift_variant A523 COAD-US X 56592162 56592162 single base substitution T C missense_variant L619P 1856T>C COCA-CN X 56590421 56590421 single base substitution A G missense_variant T39A 115A>G COCA-CN X 56590764 56590764 single base substitution G A missense_variant G153D 458G>A COCA-CN X 56590813 56590813 single base substitution C T synonymous_variant S169S 507C>T COCA-CN X 56591006 56591006 single base substitution A C missense_variant T234P 700A>C COCA-CN X 56591172 56591172 single base substitution G A missense_variant G289D 866G>A COCA-CN X 56591189 56591189 single base substitution G A missense_variant V295M 883G>A COCA-CN X 56591586 56591586 single base substitution G A missense_variant R427Q 1280G>A ESCA-CN X 56590643 56590643 single base substitution A C missense_variant T113P 337A>C ESCA-CN X 56590872 56590872 single base substitution C G missense_variant P189R 566C>G ESCA-CN X 56593630 56593630 single base substitution T C downstream_gene_variant GBM-US X 56590893 56590893 single base substitution C T missense_variant S196L 587C>T GBM-US X 56592046 56592046 single base substitution C T synonymous_variant V580V 1740C>T KIRP-US X 56592091 56592092 deletion of <=200bp AA - frameshift_variant LN595 LAML-KR X 56586421 56586421 single base substitution T C upstream_gene_variant LAML-KR X 56586597 56586597 single base substitution C T upstream_gene_variant LAML-KR X 56590536 56590536 single base substitution C T missense_variant A77V 230C>T LICA-FR X 56590885 56590885 single base substitution C T synonymous_variant S193S 579C>T LICA-FR X 56591839 56591839 deletion of <=200bp C - frameshift_variant G511 LIHC-US X 56590709 56590709 single base substitution C G missense_variant P135A 403C>G LINC-JP X 56590522 56590522 single base substitution A T synonymous_variant L72L 216A>T LINC-JP X 56592499 56592499 single base substitution A G 3_prime_UTR_variant LINC-JP X 56597620 56597620 single base substitution G A downstream_gene_variant LIRI-JP X 56587579 56587579 single base substitution G A upstream_gene_variant LIRI-JP X 56588226 56588226 single base substitution A C upstream_gene_variant LIRI-JP X 56588343 56588343 single base substitution A G upstream_gene_variant LIRI-JP X 56589447 56589447 single base substitution T C upstream_gene_variant LIRI-JP X 56592842 56592842 single base substitution A G 3_prime_UTR_variant LIRI-JP X 56593001 56593001 single base substitution A G 3_prime_UTR_variant LIRI-JP X 56593972 56593972 single base substitution A G downstream_gene_variant LIRI-JP X 56594134 56594134 single base substitution A G downstream_gene_variant LIRI-JP X 56594898 56594898 single base substitution T C downstream_gene_variant LIRI-JP X 56594910 56594910 single base substitution A T downstream_gene_variant LIRI-JP X 56595161 56595161 single base substitution G T downstream_gene_variant LIRI-JP X 56595545 56595545 single base substitution C T downstream_gene_variant LUSC-US X 56590724 56590724 single base substitution A T missense_variant S140C 418A>T LUSC-US X 56591546 56591546 single base substitution C T missense_variant P414S 1240C>T LUSC-US X 56591637 56591637 single base substitution C T missense_variant S444L 1331C>T MALY-DE X 56587052 56587052 single base substitution C T upstream_gene_variant MALY-DE X 56590641 56590641 single base substitution C T missense_variant S112F 335C>T MALY-DE X 56593362 56593362 insertion of <=200bp - A 3_prime_UTR_variant MALY-DE X 56595396 56595396 single base substitution A T downstream_gene_variant MELA-AU X 56585037 56585037 single base substitution G A upstream_gene_variant MELA-AU X 56585234 56585234 single base substitution C T upstream_gene_variant MELA-AU X 56585262 56585262 single base substitution C T upstream_gene_variant MELA-AU X 56585321 56585321 single base substitution G A upstream_gene_variant MELA-AU X 56585354 56585354 single base substitution G A upstream_gene_variant MELA-AU X 56585753 56585753 single base substitution G A upstream_gene_variant MELA-AU X 56586162 56586162 single base substitution C T upstream_gene_variant MELA-AU X 56586846 56586846 single base substitution G A upstream_gene_variant MELA-AU X 56587789 56587789 single base substitution C T upstream_gene_variant MELA-AU X 56588085 56588085 single base substitution G C upstream_gene_variant MELA-AU X 56588116 56588116 single base substitution C T upstream_gene_variant MELA-AU X 56588876 56588876 single base substitution G A upstream_gene_variant MELA-AU X 56589606 56589606 single base substitution C T upstream_gene_variant MELA-AU X 56589806 56589806 single base substitution C T upstream_gene_variant MELA-AU X 56590852 56590852 single base substitution G A missense_variant M182I 546G>A MELA-AU X 56592193 56592193 single base substitution T A 3_prime_UTR_variant MELA-AU X 56592411 56592411 single base substitution C T 3_prime_UTR_variant MELA-AU X 56592888 56592888 single base substitution A G 3_prime_UTR_variant MELA-AU X 56593190 56593190 single base substitution G A 3_prime_UTR_variant MELA-AU X 56593648 56593648 single base substitution C A downstream_gene_variant MELA-AU X 56594293 56594293 single base substitution G C downstream_gene_variant MELA-AU X 56594351 56594351 single base substitution C T downstream_gene_variant MELA-AU X 56595352 56595352 single base substitution G A downstream_gene_variant MELA-AU X 56595407 56595407 single base substitution C T downstream_gene_variant MELA-AU X 56595582 56595582 single base substitution C T downstream_gene_variant MELA-AU X 56595751 56595751 single base substitution C T downstream_gene_variant MELA-AU X 56596827 56596827 single base substitution C T downstream_gene_variant MELA-AU X 56596921 56596921 single base substitution C T downstream_gene_variant MELA-AU X 56597524 56597524 single base substitution T C downstream_gene_variant MELA-AU X 56597531 56597531 single base substitution A T downstream_gene_variant ORCA-IN X 56587754 56587754 single base substitution C A upstream_gene_variant OV-AU X 56585117 56585117 single base substitution C A upstream_gene_variant OV-AU X 56591355 56591355 single base substitution C G missense_variant T350S 1049C>G OV-AU X 56592710 56592710 single base substitution C G 3_prime_UTR_variant OV-AU X 56593563 56593563 single base substitution G C downstream_gene_variant OV-AU X 56595117 56595117 single base substitution A G downstream_gene_variant OV-AU X 56596129 56596129 single base substitution G T downstream_gene_variant OV-AU X 56596421 56596421 single base substitution G T downstream_gene_variant OV-US X 56591172 56591172 single base substitution G T missense_variant G289V 866G>T PACA-AU X 56591163 56591163 single base substitution A G missense_variant Q286R 857A>G PACA-AU X 56591295 56591295 single base substitution C T missense_variant A330V 989C>T PACA-AU X 56592710 56592710 single base substitution C A 3_prime_UTR_variant PACA-AU X 56592711 56592711 single base substitution G A 3_prime_UTR_variant PACA-AU X 56594005 56594005 single base substitution A G downstream_gene_variant PACA-AU X 56597625 56597625 single base substitution C T downstream_gene_variant PACA-CA X 56586053 56586053 single base substitution G A upstream_gene_variant PACA-CA X 56586566 56586566 single base substitution A G upstream_gene_variant PACA-CA X 56589388 56589388 single base substitution A G upstream_gene_variant PACA-CA X 56589492 56589492 single base substitution A G upstream_gene_variant PACA-CA X 56594000 56594000 single base substitution A T downstream_gene_variant PACA-CA X 56597296 56597296 single base substitution C G downstream_gene_variant PAEN-AU X 56597463 56597463 single base substitution A G downstream_gene_variant PBCA-DE X 56590278 56590278 single base substitution C T 5_prime_UTR_variant PRAD-UK X 56587906 56587906 single base substitution T A upstream_gene_variant PRAD-UK X 56588403 56588403 single base substitution G C upstream_gene_variant PRAD-UK X 56594469 56594469 insertion of <=200bp - T downstream_gene_variant PRAD-US X 56591153 56591153 single base substitution G A missense_variant A283T 847G>A READ-US X 56590420 56590420 single base substitution G T missense_variant K38N 114G>T READ-US X 56590491 56590491 single base substitution C T missense_variant S62L 185C>T READ-US X 56591723 56591723 insertion of <=200bp - T frameshift_variant I473Y? READ-US X 56591890 56591890 single base substitution C T synonymous_variant T528T 1584C>T RECA-EU X 56596371 56596371 single base substitution G T downstream_gene_variant SKCA-BR X 56586846 56586846 single base substitution G A upstream_gene_variant SKCA-BR X 56587011 56587012 deletion of <=200bp CT - upstream_gene_variant SKCA-BR X 56587623 56587623 single base substitution A G upstream_gene_variant SKCA-BR X 56589463 56589463 single base substitution C T upstream_gene_variant SKCA-BR X 56591027 56591027 single base substitution C T missense_variant P241S 721C>T STAD-US X 56591820 56591820 single base substitution T C missense_variant V505A 1514T>C STAD-US X 56591874 56591874 deletion of <=200bp C - frameshift_variant A523 THCA-US X 56592023 56592023 single base substitution C T missense_variant P573S 1717C>T UCEC-US X 56590436 56590436 single base substitution G T stop_gained E44* 130G>T UCEC-US X 56590444 56590444 single base substitution C T synonymous_variant F46F 138C>T UCEC-US X 56590464 56590464 single base substitution C T missense_variant S53L 158C>T UCEC-US X 56590846 56590846 single base substitution G T missense_variant E180D 540G>T UCEC-US X 56590893 56590893 single base substitution C T missense_variant S196L 587C>T UCEC-US X 56590894 56590894 single base substitution G A synonymous_variant S196S 588G>A UCEC-US X 56590956 56590956 single base substitution G T missense_variant R217I 650G>T UCEC-US X 56591086 56591086 single base substitution C T synonymous_variant S260S 780C>T UCEC-US X 56591127 56591127 single base substitution A C missense_variant D274A 821A>C UCEC-US X 56591329 56591329 single base substitution G A synonymous_variant G341G 1023G>A UCEC-US X 56591402 56591402 single base substitution A G missense_variant T366A 1096A>G UCEC-US X 56591469 56591469 single base substitution C T missense_variant S388L 1163C>T UCEC-US X 56592177 56592177 single base substitution C T missense_variant S624L 1871C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SW948 COSM4656747 c.35G>A p.R12H Substitution - Missense 23:56563908-56563908 + EGC15 COSM5064791 c.1059C>T p.T353T Substitution - coding silent 23:56564932-56564932 + sysucc-783T COSM5476921 c.1280G>A p.R427Q Substitution - Missense 23:56565153-56565153 + TCGA-B5-A0JY-01 COSM1123708 c.130G>T p.E44* Substitution - Nonsense 23:56564003-56564003 + TCGA-CM-6171-01 COSM1468790 c.846C>T p.A282A Substitution - coding silent 23:56564719-56564719 + LOVO COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + LS411 COSM3093408 c.665G>A p.S222N Substitution - Missense 23:56564538-56564538 + TCGA-AA-3672-01 COSM267717 c.926G>A p.R309H Substitution - Missense 23:56564799-56564799 + MZ7-mel COSM25499 c.1696G>A p.A566T Substitution - Missense 23:56565569-56565569 + QC2-40-T2 COSM5656149 c.283G>A p.G95R Substitution - Missense 23:56564156-56564156 + ER_3581 COSM5966984 c.1669_1676delCAGCAGTT p.Q557fs*39 Deletion - Frameshift 23:56565542-56565549 + TCGA-BS-A0UF-01 COSM1123720 c.650G>T p.R217I Substitution - Missense 23:56564523-56564523 + pfg008T COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-CM-5861-01 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + 261T COSM1727079 c.1637C>T p.T546I Substitution - Missense 23:56565510-56565510 + 65 COSM5742675 c.1846G>C p.E616Q Substitution - Missense 23:56565719-56565719 + HCC64 COSM1626013 c.216A>T p.L72L Substitution - coding silent 23:56564089-56564089 + TCGA-CC-A5UC-01 COSM4911992 c.403C>G p.P135A Substitution - Missense 23:56564276-56564276 + CRC-02T COSM5455907 c.866G>A p.G289D Substitution - Missense 23:56564739-56564739 + TCGA-06-0241 COSM2151183 c.1740C>T p.V580V Substitution - coding silent 23:56565613-56565613 + BD202T COSM5501412 c.1453C>A p.L485M Substitution - Missense 23:56565326-56565326 + TCGA-G2-A2EO-01 COSM1315621 c.247G>C p.D83H Substitution - Missense 23:56564120-56564120 + TCGA-BG-A0W1-01 COSM1123712 c.158C>T p.S53L Substitution - Missense 23:56564031-56564031 + Gp5D COSM3093404 c.182T>C p.I61T Substitution - Missense 23:56564055-56564055 + TCGA-G4-6586-01 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-D1-A17Q-01 COSM1123722 c.780C>T p.S260S Substitution - coding silent 23:56564653-56564653 + TCGA-60-2726-01 COSM757956 c.1331C>T p.S444L Substitution - Missense 23:56565204-56565204 + S02289 COSM5686316 c.1683G>T p.Q561H Substitution - Missense 23:56565556-56565556 + S00944 COSM316334 c.419G>A p.S140N Substitution - Missense 23:56564292-56564292 + LUAD-D01603 COSM363108 c.1442G>T p.G481V Substitution - Missense 23:56565315-56565315 + Patient_1 COSM5044565 c.1782_1783insT p.L595fs*4 Insertion - Frameshift 23:56565655-56565656 + TCGA-DK-A1A6-01 COSM1315622 c.576G>C p.Q192H Substitution - Missense 23:56564449-56564449 + T2269 COSM4738786 c.370A>G p.T124A Substitution - Missense 23:56564243-56564243 + BD189T COSM5508520 c.729G>A p.M243I Substitution - Missense 23:56564602-56564602 + TCGA-BG-A0MU-01 COSM1123730 c.1163C>T p.S388L Substitution - Missense 23:56565036-56565036 + Gp2D COSM3093404 c.182T>C p.I61T Substitution - Missense 23:56564055-56564055 + HCA7 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-G4-6586-01 COSM1468789 c.840_852del13 p.N281fs*92 Deletion - Frameshift 23:56564713-56564725 + TCGA-AX-A1CP-01 COSM1123732 c.1583C>G p.T528S Substitution - Missense 23:56565456-56565456 + TCGA-A6-6781-01 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + BD184T COSM5517735 c.180G>T p.A60A Substitution - coding silent 23:56564053-56564053 + sysucc-783T COSM5485174 c.883G>A p.V295M Substitution - Missense 23:56564756-56564756 + TCGA-D1-A15X-01 COSM1123728 c.1096A>G p.T366A Substitution - Missense 23:56564969-56564969 + TCGA-D1-A103-01 COSM1123734 c.1871C>T p.S624L Substitution - Missense 23:56565744-56565744 + T2939 COSM4738785 c.319C>T p.R107* Substitution - Nonsense 23:56564192-56564192 + AOCS-171-3-8 COSM4149136 c.1049C>G p.T350S Substitution - Missense 23:56564922-56564922 + TCGA-B5-A0JY-01 COSM1123716 c.587C>T p.S196L Substitution - Missense 23:56564460-56564460 + TCGA-D1-A17Q-01 COSM1123710 c.138C>T p.F46F Substitution - coding silent 23:56564011-56564011 + TCGA-AP-A0LM-01 COSM1123714 c.540G>T p.E180D Substitution - Missense 23:56564413-56564413 + TCGA-A6-6653-01 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-F5-6464-01 COSM1570104 c.1417_1418insT p.P474fs*71 Insertion - Frameshift 23:56565290-56565291 + 8058350 COSM3780529 c.989C>T p.A330V Substitution - Missense 23:56564862-56564862 + S00944 COSM316334 c.419G>A p.S140N Substitution - Missense 23:56564292-56564292 + PD4000a COSM165378 c.488A>T p.N163I Substitution - Missense 23:56564361-56564361 + TCGA-D5-6920-01 COSM1468788 c.607C>T p.Q203* Substitution - Nonsense 23:56564480-56564480 + TCGA-24-1470-01 COSM76932 c.866G>T p.G289V Substitution - Missense 23:56564739-56564739 + TCGA-BR-6802-01 COSM4110426 c.1514T>C p.V505A Substitution - Missense 23:56565387-56565387 + TCGA-F5-6814-01 COSM3424874 c.114G>T p.K38N Substitution - Missense 23:56563987-56563987 + TCGA-AQ-A54N-01 COSM3845139 c.572T>G p.V191G Substitution - Missense 23:56564445-56564445 + pfg011T COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + AOCS-171-1-0 COSM4149136 c.1049C>G p.T350S Substitution - Missense 23:56564922-56564922 + CSCC-27-T COSM4469111 c.1581C>T p.S527S Substitution - coding silent 23:56565454-56565454 + CHC892T COSM4961344 c.579C>T p.S193S Substitution - coding silent 23:56564452-56564452 + T3021 COSM4738787 c.1136A>C p.N379T Substitution - Missense 23:56565009-56565009 + TCGA-E7-A3Y1-01 COSM3800694 c.1604G>A p.G535E Substitution - Missense 23:56565477-56565477 + 587226 COSM1231596 c.136T>C p.F46L Substitution - Missense 23:56564009-56564009 + 19 COSM5748303 c.1546A>T p.I516L Substitution - Missense 23:56565419-56565419 + TCGA-13-1505-01 COSM118646 c.84T>G p.A28A Substitution - coding silent 23:56563957-56563957 + 51 COSM5734662 c.107C>T p.T36M Substitution - Missense 23:56563980-56563980 + CN-AML-CR-9-Dx COSM5427946 c.230C>T p.A77V Substitution - Missense 23:56564103-56564103 + TCGA-06-0241-01 COSM2151183 c.1740C>T p.V580V Substitution - coding silent 23:56565613-56565613 + PD7202a COSM5799431 c.1060G>A p.V354I Substitution - Missense 23:56564933-56564933 + LUAD-S01482 COSM388377 c.518A>T p.Q173L Substitution - Missense 23:56564391-56564391 + 61 COSM5742312 c.355G>A p.A119T Substitution - Missense 23:56564228-56564228 + TCGA-FD-A3SM-01 COSM3800693 c.1258C>G p.P420A Substitution - Missense 23:56565131-56565131 + ZZUFHECRKL-G067T COSM5438796 c.337A>C p.T113P Substitution - Missense 23:56564210-56564210 + TCGA-D1-A16Y-01 COSM1123716 c.587C>T p.S196L Substitution - Missense 23:56564460-56564460 + TCGA-AH-6544-01 COSM1570103 c.1584C>T p.T528T Substitution - coding silent 23:56565457-56565457 + TCGA-EJ-5521-01 COSM1132281 c.847G>A p.A283T Substitution - Missense 23:56564720-56564720 + TCGA-CK-5916-01 COSM3694784 c.1856T>C p.L619P Substitution - Missense 23:56565729-56565729 + TCGA-AP-A051-01 COSM1123724 c.821A>C p.D274A Substitution - Missense 23:56564694-56564694 + TCGA-JX-A5QV-01 COSM4824999 c.295C>T p.H99Y Substitution - Missense 23:56564168-56564168 + I2L-P7-Tumor-Organoid COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + T3024 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + 18 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-AA-3672-01 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + C086 COSM5541287 c.163C>T p.Q55* Substitution - Nonsense 23:56564036-56564036 + RKO COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + CNE1 COSM3093406 c.400A>G p.T134A Substitution - Missense 23:56564273-56564273 + S02093 COSM5673336 c.1789C>A p.R597S Substitution - Missense 23:56565662-56565662 + TCGA-AP-A059-01 COSM1123726 c.1023G>A p.G341G Substitution - coding silent 23:56564896-56564896 + ESCC-060T COSM3940063 c.566C>G p.P189R Substitution - Missense 23:56564439-56564439 + DN11120 COSM5780030 c.1779G>C p.G593G Substitution - coding silent 23:56565652-56565652 + YUSMI COSM5412904 c.937C>T p.R313C Substitution - Missense 23:56564810-56564810 + TCGA-43-2578-01 COSM757958 c.418A>T p.S140C Substitution - Missense 23:56564291-56564291 + TCGA-DY-A1DD-01 COSM1570105 c.185C>T p.S62L Substitution - Missense 23:56564058-56564058 + QC2-40-T2 COSM5656150 c.284G>T p.G95V Substitution - Missense 23:56564157-56564157 + 8047913 COSM3390731 c.857A>G p.Q286R Substitution - Missense 23:56564730-56564730 + pfg008T COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + pfg181T COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-AP-A056-01 COSM1123718 c.588G>A p.S196S Substitution - coding silent 23:56564461-56564461 + TCGA-DK-A2HX-01 COSM1315623 c.611T>C p.L204P Substitution - Missense 23:56564484-56564484 + CHC892T COSM4961344 c.579C>T p.S193S Substitution - coding silent 23:56564452-56564452 + sysucc-274T COSM5476921 c.1280G>A p.R427Q Substitution - Missense 23:56565153-56565153 + CHC896T COSM5348273 c.1536delC p.I513fs*4 Deletion - Frameshift 23:56565409-56565409 + T207 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + T3024 COSM4738788 c.1167G>A p.A389A Substitution - coding silent 23:56565040-56565040 + U2940 COSM5622099 c.1520T>C p.F507S Substitution - Missense 23:56565393-56565393 + C086 COSM5541286 c.482C>T p.S161L Substitution - Missense 23:56564355-56564355 + S01022 COSM5666258 c.1452G>T p.V484V Substitution - coding silent 23:56565325-56565325 + LUAD-S01409 COSM388239 c.1158G>C p.M386I Substitution - Missense 23:56565031-56565031 + TCGA-BT-A2LB-01 COSM3800692 c.940G>A p.D314N Substitution - Missense 23:56564813-56564813 + S00830 COSM318256 c.997A>G p.S333G Substitution - Missense 23:56564870-56564870 + HCC64T COSM1626013 c.216A>T p.L72L Substitution - coding silent 23:56564089-56564089 + SA224 COSM212563 c.1275G>C p.Q425H Substitution - Missense 23:56565148-56565148 + T263 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + DN110E8 COSM5799431 c.1060G>A p.V354I Substitution - Missense 23:56564933-56564933 + T1154 COSM267717 c.926G>A p.R309H Substitution - Missense 23:56564799-56564799 + TCGA-E8-A415-01 COSM3372310 c.1717C>T p.P573S Substitution - Missense 23:56565590-56565590 + EGC8 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + TCGA-AN-A046-01 COSM3845140 c.1064C>A p.A355D Substitution - Missense 23:56564937-56564937 + TCGA-G4-6588-01 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + Gp2D COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + sysucc-311T COSM5467906 c.115A>G p.T39A Substitution - Missense 23:56563988-56563988 + sysucc-2215T COSM5765682 c.458G>A p.G153D Substitution - Missense 23:56564331-56564331 + T2940 COSM267718 c.1568delC p.P525fs*71 Deletion - Frameshift 23:56565441-56565441 + CSCC-10-T COSM4485168 c.28C>T p.P10S Substitution - Missense 23:56563901-56563901 + 3101B7_032_T COSM5041033 c.1214T>C p.L405S Substitution - Missense 23:56565087-56565087 + PD13602a COSM5780030 c.1779G>C p.G593G Substitution - coding silent 23:56565652-56565652 + TCGA-AA-A00N-01 COSM277986 c.1152G>A p.Q384Q Substitution - coding silent 23:56565025-56565025 + S00830 COSM318256 c.997A>G p.S333G Substitution - Missense 23:56564870-56564870 + TCGA-18-3419-01 COSM757957 c.1240C>T p.P414S Substitution - Missense 23:56565113-56565113 + TCGA-74-6575-01 COSM1123716 c.587C>T p.S196L Substitution - Missense 23:56564460-56564460 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.179299;Hs.179309 Xp11.21 300264

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q276P c.827A>C X 56591133 LUAD A G 3-UTRSNV . c.1872+823A>G X 56593001 HC A G Missense p.S333G c.997A>G X 56591303 SCLC A G Missense p.T350A c.1048A>G X 56591354 LUAD A T Missense p.N163I c.488A>T X 56590794 BRCA A T Missense p.Q306L c.917A>T X 56591223 HNSC A T Missense p.S140C c.418A>T X 56590724 LUSC C - Frameshift p.P525Lfs*71 c.1574delC X 56591874 STAD C G Missense p.S256R c.768C>G X 56591074 LUAD C T Missense p.A118V c.353C>T X 56590659 CM C T Missense p.P414S c.1240C>T X 56591546 LUSC C T Missense p.S196L c.587C>T X 56590893 GBM C T Missense p.S196L c.587C>T X 56590893 UCEC C T Missense p.S388L c.1163C>T X 56591469 UCEC C T Missense p.S444L c.1331C>T X 56591637 LUSC C T Missense p.S53L c.158C>T X 56590464 UCEC C T Nonsense p.Q192* c.574C>T X 56590880 MM C T Synonymous p.S308S c.924C>T X 56591230 CM C T Synonymous p.V580V c.1740C>T X 56592046 GBM G A Missense p.A283T c.847G>A X 56591153 PRAD G A Missense p.D314N c.940G>A X 56591246 BLCA G A Missense p.G302R c.904G>A X 56591210 HNSC G A Missense p.S140N c.419G>A X 56590725 SCLC G C Missense p.D83H c.247G>C X 56590553 BLCA G C Missense p.Q192H c.576G>C X 56590882 BLCA G C Missense p.Q425H c.1275G>C X 56591581 BRCA G T Missense p.G289V c.866G>T X 56591172 OV G T Missense p.V505F c.1513G>T X 56591819 LUAD T C Missense p.L204P c.611T>C X 56590917 BLCA T C Missense p.V505A c.1514T>C X 56591820 STAD T C Synonymous p.F416F c.1248T>C X 56591554 LUAD T G Synonymous p.A28A c.84T>G X 56590390 OV