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 12 95911959 95911959 + Missense_Mutation SNP C C T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr12:95911959C>T c.2110G>A c.(2110-2112)Gat>Aat p.D704N BLCA 12 95918479 95918479 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr12:95918479G>C c.1710C>G c.(1708-1710)ctC>ctG p.L570L BLCA 12 95926706 95926706 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr12:95926706C>T c.1327G>A c.(1327-1329)Ggt>Agt p.G443S BLCA 12 95926831 95926831 + Nonsense_Mutation SNP G G T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr12:95926831G>T c.1202C>A c.(1201-1203)tCa>tAa p.S401* BRCA 12 95926683 95926683 + Silent SNP G G T TCGA-A2-A4S0-01A-21D-A25Q-09 TCGA-A2-A4S0-10A-01D-A25Q-09 g.chr12:95926683G>T c.1350C>A c.(1348-1350)atC>atA p.I450I CESC 12 95912058 95912058 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr12:95912058A>G c.2011T>C c.(2011-2013)Tat>Cat p.Y671H COAD 12 95912009 95912009 + Missense_Mutation SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:95912009A>G c.2060T>C c.(2059-2061)cTt>cCt p.L687P COAD 12 95914893 95914893 + Missense_Mutation SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr12:95914893C>T c.1819G>A c.(1819-1821)Gag>Aag p.E607K COAD 12 95918457 95918457 + Splice_Site SNP T T C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr12:95918457T>C c.1732A>G c.(1732-1734)Agg>Ggg p.R578G COAD 12 95922601 95922601 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:95922601C>T c.1606G>A c.(1606-1608)Gta>Ata p.V536I COAD 12 95922631 95922631 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:95922631C>A c.1576G>T c.(1576-1578)Gaa>Taa p.E526* COAD 12 95926798 95926798 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:95926798A>G c.1235T>C c.(1234-1236)cTc>cCc p.L412P COAD 12 95927023 95927026 + Frame_Shift_Del DEL CATT CATT - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:95927023_95927026delCATT c.1007_1010delAATG c.(1006-1011)gaatgtfs p.EC336fs COAD 12 95927076 95927076 + Silent SNP T T C TCGA-AA-A00W-01A-01W-A005-10 TCGA-AA-A00W-10A-01W-A005-10 g.chr12:95927076T>C c.957A>G c.(955-957)agA>agG p.R319R COAD 12 95927076 95927076 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:95927076T>C c.957A>G c.(955-957)agA>agG p.R319R COAD 12 95927078 95927078 + Missense_Mutation SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr12:95927078T>C c.955A>G c.(955-957)Aga>Gga p.R319G COAD 12 95927078 95927078 + Missense_Mutation SNP T T C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr12:95927078T>C c.955A>G c.(955-957)Aga>Gga p.R319G COAD 12 95927078 95927078 + Missense_Mutation SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr12:95927078T>C c.955A>G c.(955-957)Aga>Gga p.R319G COAD 12 95927116 95927116 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:95927116A>G c.917T>C c.(916-918)cTg>cCg p.L306P COAD 12 95927201 95927201 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:95927201A>C c.832T>G c.(832-834)Ttg>Gtg p.L278V COAD 12 95927206 95927206 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:95927206C>T c.827G>A c.(826-828)aGa>aAa p.R276K COAD 12 95927298 95927298 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:95927298T>C c.735A>G c.(733-735)gtA>gtG p.V245V COAD 12 95927367 95927367 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:95927367C>T c.666G>A c.(664-666)tcG>tcA p.S222S COAD 12 95927429 95927429 + Missense_Mutation SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:95927429T>C c.604A>G c.(604-606)Aaa>Gaa p.K202E COAD 12 95927486 95927486 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:95927486T>G c.547A>C c.(547-549)Aaa>Caa p.K183Q COAD 12 95927545 95927545 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:95927545C>T c.488G>A c.(487-489)cGa>cAa p.R163Q COAD 12 95927655 95927655 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr12:95927655A>G c.378T>C c.(376-378)ggT>ggC p.G126G COAD 12 95927672 95927672 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:95927672G>A c.361C>T c.(361-363)Cgg>Tgg p.R121W COADREAD 12 95912009 95912009 + Missense_Mutation SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:95912009A>G c.2060T>C c.(2059-2061)cTt>cCt p.L687P COADREAD 12 95914893 95914893 + Missense_Mutation SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr12:95914893C>T c.1819G>A c.(1819-1821)Gag>Aag p.E607K COADREAD 12 95918457 95918457 + Splice_Site SNP T T C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr12:95918457T>C c.1732A>G c.(1732-1734)Agg>Ggg p.R578G COADREAD 12 95922601 95922601 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:95922601C>T c.1606G>A c.(1606-1608)Gta>Ata p.V536I COADREAD 12 95922631 95922631 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:95922631C>A c.1576G>T c.(1576-1578)Gaa>Taa p.E526* COADREAD 12 95926798 95926798 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:95926798A>G c.1235T>C c.(1234-1236)cTc>cCc p.L412P COADREAD 12 95927023 95927026 + Frame_Shift_Del DEL CATT CATT - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:95927023_95927026delCATT c.1007_1010delAATG c.(1006-1011)gaatgtfs p.EC336fs COADREAD 12 95927076 95927076 + Silent SNP T T C TCGA-AA-A00W-01A-01W-A005-10 TCGA-AA-A00W-10A-01W-A005-10 g.chr12:95927076T>C c.957A>G c.(955-957)agA>agG p.R319R COADREAD 12 95927076 95927076 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:95927076T>C c.957A>G c.(955-957)agA>agG p.R319R COADREAD 12 95927078 95927078 + Missense_Mutation SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr12:95927078T>C c.955A>G c.(955-957)Aga>Gga p.R319G COADREAD 12 95927078 95927078 + Missense_Mutation SNP T T C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr12:95927078T>C c.955A>G c.(955-957)Aga>Gga p.R319G COADREAD 12 95927078 95927078 + Missense_Mutation SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr12:95927078T>C c.955A>G c.(955-957)Aga>Gga p.R319G COADREAD 12 95927116 95927116 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:95927116A>G c.917T>C c.(916-918)cTg>cCg p.L306P COADREAD 12 95927201 95927201 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:95927201A>C c.832T>G c.(832-834)Ttg>Gtg p.L278V COADREAD 12 95927206 95927206 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:95927206C>T c.827G>A c.(826-828)aGa>aAa p.R276K COADREAD 12 95927298 95927298 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:95927298T>C c.735A>G c.(733-735)gtA>gtG p.V245V COADREAD 12 95927367 95927367 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:95927367C>T c.666G>A c.(664-666)tcG>tcA p.S222S COADREAD 12 95927429 95927429 + Missense_Mutation SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:95927429T>C c.604A>G c.(604-606)Aaa>Gaa p.K202E COADREAD 12 95927486 95927486 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:95927486T>G c.547A>C c.(547-549)Aaa>Caa p.K183Q COADREAD 12 95927545 95927545 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:95927545C>T c.488G>A c.(487-489)cGa>cAa p.R163Q COADREAD 12 95927655 95927655 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr12:95927655A>G c.378T>C c.(376-378)ggT>ggC p.G126G COADREAD 12 95927672 95927672 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:95927672G>A c.361C>T c.(361-363)Cgg>Tgg p.R121W COADREAD 12 95927737 95927737 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:95927737C>T c.296G>A c.(295-297)cGa>cAa p.R99Q DLBC 12 95926864 95926864 + Missense_Mutation SNP T T C TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr12:95926864T>C c.1169A>G c.(1168-1170)cAa>cGa p.Q390R DLBC 12 95927087 95927087 + Missense_Mutation SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:95927087C>G c.946G>C c.(946-948)Gag>Cag p.E316Q DLBC 12 95927172 95927172 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:95927172A>G c.861T>C c.(859-861)gtT>gtC p.V287V ESCA 12 95927822 95927822 + Missense_Mutation SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr12:95927822C>G c.211G>C c.(211-213)Gag>Cag p.E71Q GBMLGG 12 95914946 95914946 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:95914946C>T c.1766G>A c.(1765-1767)gGt>gAt p.G589D GBMLGG 12 95914959 95914959 + Nonsense_Mutation SNP G G A TCGA-HT-A618-01A-11D-A29Q-08 TCGA-HT-A618-10A-01D-A29Q-08 g.chr12:95914959G>A c.1753C>T c.(1753-1755)Cga>Tga p.R585* GBMLGG 12 95918498 95918498 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:95918498C>T c.1691G>A c.(1690-1692)tGc>tAc p.C564Y GBMLGG 12 95926723 95926723 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr12:95926723C>T c.1310G>A c.(1309-1311)cGt>cAt p.R437H GBMLGG 12 95927508 95927508 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:95927508C>T c.525G>A c.(523-525)aaG>aaA p.K175K HNSC 12 95927270 95927270 + Nonsense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr12:95927270G>A c.763C>T c.(763-765)Caa>Taa p.Q255* HNSC 12 95927582 95927582 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr12:95927582A>G c.451T>C c.(451-453)Tgg>Cgg p.W151R HNSC 12 95927813 95927813 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:95927813C>T c.220G>A c.(220-222)Gag>Aag p.E74K HNSC 12 95927971 95927971 + Missense_Mutation SNP C C G TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr12:95927971C>G c.62G>C c.(61-63)aGc>aCc p.S21T KIPAN 12 95911974 95911974 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chr12:95911974G>C c.2095C>G c.(2095-2097)Ccc>Gcc p.P699A KIPAN 12 95922715 95922716 + Missense_Mutation DNP CC CC TA TCGA-2Z-A9JP-01A-11D-A42J-10 TCGA-2Z-A9JP-10A-01D-A42M-10 g.chr12:95922715_95922716CC>TA c.1491_1492GG>TA c.(1489-1494)ttGGag>ttTAag p.497_498LE>FK KIRC 12 95911974 95911974 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chr12:95911974G>C c.2095C>G c.(2095-2097)Ccc>Gcc p.P699A KIRP 12 95922715 95922716 + Missense_Mutation DNP CC CC TA TCGA-2Z-A9JP-01A-11D-A42J-10 TCGA-2Z-A9JP-10A-01D-A42M-10 g.chr12:95922715_95922716CC>TA c.1491_1492GG>TA c.(1489-1494)ttGGag>ttTAag p.497_498LE>FK LAML 12 95926872 95926872 + Silent SNP A A G TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 g.chr12:95926872A>G c.1161T>C c.(1159-1161)acT>acC p.T387T LGG 12 95914946 95914946 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:95914946C>T c.1766G>A c.(1765-1767)gGt>gAt p.G589D LGG 12 95914959 95914959 + Nonsense_Mutation SNP G G A TCGA-HT-A618-01A-11D-A29Q-08 TCGA-HT-A618-10A-01D-A29Q-08 g.chr12:95914959G>A c.1753C>T c.(1753-1755)Cga>Tga p.R585* LGG 12 95918498 95918498 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:95918498C>T c.1691G>A c.(1690-1692)tGc>tAc p.C564Y LGG 12 95926723 95926723 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr12:95926723C>T c.1310G>A c.(1309-1311)cGt>cAt p.R437H LGG 12 95927508 95927508 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:95927508C>T c.525G>A c.(523-525)aaG>aaA p.K175K LIHC 12 95922582 95922582 + Splice_Site SNP C C T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr12:95922582C>T c.e3+1 LIHC 12 95927304 95927304 + Missense_Mutation SNP A A T TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr12:95927304A>T c.729T>A c.(727-729)gaT>gaA p.D243E LIHC 12 95927482 95927483 + Frame_Shift_Ins INS - - T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr12:95927482_95927483insT c.550_551insA c.(550-552)atafs p.I184fs LIHC 12 95927545 95927545 + Missense_Mutation SNP C C A TCGA-DD-AADN-01A-11D-A40R-10 TCGA-DD-AADN-10A-01D-A40U-10 g.chr12:95927545C>A c.488G>T c.(487-489)cGa>cTa p.R163L LUAD 12 95912001 95912001 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr12:95912001G>C c.2068C>G c.(2068-2070)Cca>Gca p.P690A LUAD 12 95914952 95914952 + Missense_Mutation SNP T T G TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr12:95914952T>G c.1760A>C c.(1759-1761)aAg>aCg p.K587T LUAD 12 95922617 95922617 + Silent SNP T T C TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr12:95922617T>C c.1590A>G c.(1588-1590)ttA>ttG p.L530L LUAD 12 95927518 95927518 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr12:95927518C>T c.515G>A c.(514-516)gGa>gAa p.G172E LUAD 12 95927532 95927532 + Silent SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr12:95927532T>C c.501A>G c.(499-501)gaA>gaG p.E167E LUAD 12 95927783 95927783 + Missense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 g.chr12:95927783C>A c.250G>T c.(250-252)Gat>Tat p.D84Y LUAD 12 95927916 95927916 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr12:95927916C>A c.117G>T c.(115-117)tgG>tgT p.W39C LUAD 12 95927967 95927967 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr12:95927967G>C c.66C>G c.(64-66)ctC>ctG p.L22L PAAD 12 95922666 95922666 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr12:95922666G>A c.1541C>T c.(1540-1542)cCa>cTa p.P514L PAAD 12 95922698 95922698 + Nonsense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:95922698A>C c.1509T>G c.(1507-1509)taT>taG p.Y503* PRAD 12 95914854 95914854 + Missense_Mutation SNP C C A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 g.chr12:95914854C>A c.1858G>T c.(1858-1860)Gac>Tac p.D620Y READ 12 95927737 95927737 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:95927737C>T c.296G>A c.(295-297)cGa>cAa p.R99Q SARC 12 95927128 95927128 + Frame_Shift_Del DEL A A - TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 g.chr12:95927128delA c.905delT c.(904-906)ttafs p.L302fs SKCM 12 95914826 95914826 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:95914826C>T c.1886G>A c.(1885-1887)gGg>gAg p.G629E SKCM 12 95914926 95914926 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr12:95914926C>T c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K SKCM 12 95918458 95918458 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:95918458G>A c.1731C>T c.(1729-1731)ttC>ttT p.F577F SKCM 12 95926668 95926668 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr12:95926668C>T c.1365G>A c.(1363-1365)agG>agA p.R455R SKCM 12 95926702 95926702 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr12:95926702G>A c.1331C>T c.(1330-1332)aCc>aTc p.T444I SKCM 12 95926868 95926868 + Missense_Mutation SNP A A G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr12:95926868A>G c.1165T>C c.(1165-1167)Ttc>Ctc p.F389L SKCM 12 95926931 95926931 + Missense_Mutation SNP G G C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 g.chr12:95926931G>C c.1102C>G c.(1102-1104)Ctt>Gtt p.L368V SKCM 12 95927181 95927181 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr12:95927181C>T c.852G>A c.(850-852)atG>atA p.M284I SKCM 12 95927253 95927253 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr12:95927253G>A c.780C>T c.(778-780)tcC>tcT p.S260S SKCM 12 95927254 95927254 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:95927254G>A c.779C>T c.(778-780)tCc>tTc p.S260F SKCM 12 95927347 95927347 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:95927347G>A c.686C>T c.(685-687)tCt>tTt p.S229F SKCM 12 95927357 95927357 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:95927357C>T c.676G>A c.(676-678)Gaa>Aaa p.E226K SKCM 12 95927372 95927372 + Nonsense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr12:95927372G>A c.661C>T c.(661-663)Cag>Tag p.Q221* SKCM 12 95928001 95928001 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr12:95928001C>T c.32G>A c.(31-33)gGg>gAg p.G11E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 95922653 95922653 single base substitution A T downstream_gene_variant BLCA-CN 12 95922653 95922653 single base substitution A T exon_variant BLCA-CN 12 95922653 95922653 single base substitution A T intron_variant BLCA-CN 12 95922653 95922653 single base substitution A T synonymous_variant T518T 1554T>A BLCA-US 12 95907493 95907493 single base substitution G A downstream_gene_variant BLCA-US 12 95918479 95918479 single base substitution G C 3_prime_UTR_variant BLCA-US 12 95918479 95918479 single base substitution G C exon_variant BLCA-US 12 95918479 95918479 single base substitution G C synonymous_variant L570L 1710C>G BLCA-US 12 95926706 95926706 single base substitution C T downstream_gene_variant BLCA-US 12 95926706 95926706 single base substitution C T missense_variant G443S 1327G>A BLCA-US 12 95926706 95926706 single base substitution C T upstream_gene_variant BOCA-UK 12 95907481 95907481 single base substitution T C downstream_gene_variant BRCA-EU 12 95906176 95906176 single base substitution G A downstream_gene_variant BRCA-EU 12 95906701 95906701 single base substitution C T downstream_gene_variant BRCA-EU 12 95906778 95906815 multiple base substitution (>=2bp and <=200bp) AAAATAGTATATTCATGAATGTAGAGTTCTGTAGCCCA ATACAT downstream_gene_variant BRCA-EU 12 95908103 95908103 single base substitution G C downstream_gene_variant BRCA-EU 12 95911354 95911354 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 95911354 95911354 single base substitution G A downstream_gene_variant BRCA-EU 12 95912464 95912464 single base substitution C T intron_variant BRCA-EU 12 95914967 95914967 single base substitution C T downstream_gene_variant BRCA-EU 12 95914967 95914967 single base substitution C T intron_variant BRCA-EU 12 95914967 95914967 single base substitution C T missense_variant R582H 1745G>A BRCA-EU 12 95916506 95916506 single base substitution A G downstream_gene_variant BRCA-EU 12 95916506 95916506 single base substitution A G intron_variant BRCA-EU 12 95917320 95917320 single base substitution G C downstream_gene_variant BRCA-EU 12 95917320 95917320 single base substitution G C intron_variant BRCA-EU 12 95917393 95917393 single base substitution G C downstream_gene_variant BRCA-EU 12 95917393 95917393 single base substitution G C intron_variant BRCA-EU 12 95917588 95917588 single base substitution G T downstream_gene_variant BRCA-EU 12 95917588 95917588 single base substitution G T intron_variant BRCA-EU 12 95918428 95918428 single base substitution T G exon_variant BRCA-EU 12 95918428 95918428 single base substitution T G intron_variant BRCA-EU 12 95920944 95920944 single base substitution C G intron_variant BRCA-EU 12 95922061 95922061 single base substitution C A intron_variant BRCA-EU 12 95922444 95922444 single base substitution G T intron_variant BRCA-EU 12 95923886 95923886 single base substitution G C downstream_gene_variant BRCA-EU 12 95923886 95923886 single base substitution G C intron_variant BRCA-EU 12 95923886 95923886 single base substitution G C upstream_gene_variant BRCA-EU 12 95924670 95924670 single base substitution G C downstream_gene_variant BRCA-EU 12 95924670 95924670 single base substitution G C intron_variant BRCA-EU 12 95924670 95924670 single base substitution G C upstream_gene_variant BRCA-EU 12 95924707 95924707 single base substitution G A downstream_gene_variant BRCA-EU 12 95924707 95924707 single base substitution G A intron_variant BRCA-EU 12 95924707 95924707 single base substitution G A upstream_gene_variant BRCA-EU 12 95925408 95925408 single base substitution C G downstream_gene_variant BRCA-EU 12 95925408 95925408 single base substitution C G intron_variant BRCA-EU 12 95925408 95925408 single base substitution C G upstream_gene_variant BRCA-EU 12 95925863 95925863 single base substitution G C downstream_gene_variant BRCA-EU 12 95925863 95925863 single base substitution G C intron_variant BRCA-EU 12 95925863 95925863 single base substitution G C upstream_gene_variant BRCA-EU 12 95926705 95926705 single base substitution C T downstream_gene_variant BRCA-EU 12 95926705 95926705 single base substitution C T missense_variant G443D 1328G>A BRCA-EU 12 95926705 95926705 single base substitution C T upstream_gene_variant BRCA-EU 12 95927027 95927027 single base substitution C T downstream_gene_variant BRCA-EU 12 95927027 95927027 single base substitution C T missense_variant E336K 1006G>A BRCA-EU 12 95927027 95927027 single base substitution C T upstream_gene_variant BRCA-EU 12 95927158 95927158 single base substitution C T downstream_gene_variant BRCA-EU 12 95927158 95927158 single base substitution C T missense_variant S292N 875G>A BRCA-EU 12 95927158 95927158 single base substitution C T upstream_gene_variant BRCA-EU 12 95927877 95927877 single base substitution A G synonymous_variant Y52Y 156T>C BRCA-EU 12 95929008 95929008 single base substitution G C intron_variant BRCA-EU 12 95929008 95929008 single base substitution G C upstream_gene_variant BRCA-EU 12 95930102 95930102 single base substitution A G intron_variant BRCA-EU 12 95930102 95930102 single base substitution A G upstream_gene_variant BRCA-EU 12 95930813 95930813 single base substitution A G intron_variant BRCA-EU 12 95930813 95930813 single base substitution A G upstream_gene_variant BRCA-EU 12 95931125 95931125 single base substitution C T intron_variant BRCA-EU 12 95931125 95931125 single base substitution C T upstream_gene_variant BRCA-EU 12 95932698 95932698 single base substitution G A intron_variant BRCA-EU 12 95932698 95932698 single base substitution G A upstream_gene_variant BRCA-EU 12 95932699 95932699 single base substitution C A intron_variant BRCA-EU 12 95932699 95932699 single base substitution C A upstream_gene_variant BRCA-EU 12 95932897 95932897 single base substitution C G intron_variant BRCA-EU 12 95932897 95932897 single base substitution C G upstream_gene_variant BRCA-EU 12 95933742 95933742 single base substitution G A intron_variant BRCA-EU 12 95935369 95935369 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 95935369 95935369 deletion of <=200bp A - intron_variant BRCA-EU 12 95936735 95936735 single base substitution G T downstream_gene_variant BRCA-EU 12 95936735 95936735 single base substitution G T intron_variant BRCA-EU 12 95937547 95937547 single base substitution C A downstream_gene_variant BRCA-EU 12 95937547 95937547 single base substitution C A intron_variant BRCA-EU 12 95937547 95937547 single base substitution C T downstream_gene_variant BRCA-EU 12 95937547 95937547 single base substitution C T intron_variant BRCA-EU 12 95939342 95939342 single base substitution T A downstream_gene_variant BRCA-EU 12 95939342 95939342 single base substitution T A intron_variant BRCA-EU 12 95939902 95939902 single base substitution C A downstream_gene_variant BRCA-EU 12 95939902 95939902 single base substitution C A intron_variant BRCA-EU 12 95940566 95940566 single base substitution A G exon_variant BRCA-EU 12 95940566 95940566 single base substitution A G intron_variant BRCA-EU 12 95940572 95940572 single base substitution G T exon_variant BRCA-EU 12 95940572 95940572 single base substitution G T intron_variant BRCA-EU 12 95940861 95940861 single base substitution A C intron_variant BRCA-EU 12 95940868 95940868 single base substitution C T intron_variant BRCA-EU 12 95941739 95941739 single base substitution G T intron_variant BRCA-EU 12 95942527 95942527 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 95942527 95942527 single base substitution G A intron_variant BRCA-EU 12 95942527 95942527 single base substitution G A upstream_gene_variant BRCA-EU 12 95942998 95942998 single base substitution C G intron_variant BRCA-EU 12 95942998 95942998 single base substitution C G upstream_gene_variant BRCA-EU 12 95943622 95943622 single base substitution C T intron_variant BRCA-EU 12 95943622 95943622 single base substitution C T upstream_gene_variant BRCA-EU 12 95944064 95944064 single base substitution A G intron_variant BRCA-EU 12 95944064 95944064 single base substitution A G upstream_gene_variant BRCA-EU 12 95944079 95944079 single base substitution C T intron_variant BRCA-EU 12 95944079 95944079 single base substitution C T upstream_gene_variant BRCA-EU 12 95945714 95945714 single base substitution G T upstream_gene_variant BRCA-EU 12 95947505 95947505 single base substitution G C upstream_gene_variant BRCA-EU 12 95947616 95947616 single base substitution T C upstream_gene_variant BRCA-EU 12 95947703 95947703 single base substitution T G upstream_gene_variant BRCA-EU 12 95948262 95948262 single base substitution A T upstream_gene_variant BRCA-EU 12 95948301 95948301 single base substitution C G upstream_gene_variant BRCA-EU 12 95948480 95948480 single base substitution T G upstream_gene_variant BRCA-EU 12 95948879 95948879 single base substitution G T upstream_gene_variant BRCA-EU 12 95949458 95949458 deletion of <=200bp G - upstream_gene_variant BRCA-FR 12 95906176 95906176 single base substitution G A downstream_gene_variant BRCA-FR 12 95909453 95909453 single base substitution A T downstream_gene_variant BRCA-FR 12 95917393 95917393 single base substitution G C downstream_gene_variant BRCA-FR 12 95917393 95917393 single base substitution G C intron_variant BRCA-FR 12 95920944 95920944 single base substitution C G intron_variant BRCA-FR 12 95929008 95929008 single base substitution G C intron_variant BRCA-FR 12 95929008 95929008 single base substitution G C upstream_gene_variant BRCA-FR 12 95931125 95931125 single base substitution C T intron_variant BRCA-FR 12 95931125 95931125 single base substitution C T upstream_gene_variant BRCA-FR 12 95932897 95932897 single base substitution C G intron_variant BRCA-FR 12 95932897 95932897 single base substitution C G upstream_gene_variant BRCA-FR 12 95941739 95941739 single base substitution G T intron_variant BRCA-FR 12 95944509 95944509 single base substitution C T intron_variant BRCA-FR 12 95944509 95944509 single base substitution C T upstream_gene_variant BRCA-UK 12 95927768 95927768 single base substitution C T missense_variant D89N 265G>A BRCA-UK 12 95927768 95927768 single base substitution C T upstream_gene_variant BRCA-US 12 95905673 95905673 single base substitution A T downstream_gene_variant BRCA-US 12 95926683 95926683 single base substitution G T downstream_gene_variant BRCA-US 12 95926683 95926683 single base substitution G T synonymous_variant I450I 1350C>A BRCA-US 12 95926683 95926683 single base substitution G T upstream_gene_variant BTCA-JP 12 95918464 95918464 single base substitution T C 3_prime_UTR_variant BTCA-JP 12 95918464 95918464 single base substitution T C exon_variant BTCA-JP 12 95918464 95918464 single base substitution T C synonymous_variant K575K 1725A>G CESC-US 12 95912058 95912058 single base substitution A G 3_prime_UTR_variant CESC-US 12 95912058 95912058 single base substitution A G missense_variant Y671H 2011T>C CLLE-ES 12 95916750 95916750 single base substitution G A downstream_gene_variant CLLE-ES 12 95916750 95916750 single base substitution G A intron_variant CLLE-ES 12 95925090 95925090 single base substitution A G downstream_gene_variant CLLE-ES 12 95925090 95925090 single base substitution A G intron_variant CLLE-ES 12 95925090 95925090 single base substitution A G upstream_gene_variant CLLE-ES 12 95927453 95927453 single base substitution G A downstream_gene_variant CLLE-ES 12 95927453 95927453 single base substitution G A missense_variant R194W 580C>T CLLE-ES 12 95927453 95927453 single base substitution G A upstream_gene_variant CLLE-ES 12 95930991 95930991 single base substitution G A intron_variant CLLE-ES 12 95930991 95930991 single base substitution G A upstream_gene_variant COAD-US 12 95905701 95905701 single base substitution C A downstream_gene_variant COAD-US 12 95907611 95907611 single base substitution G A downstream_gene_variant COAD-US 12 95912009 95912009 single base substitution A G 3_prime_UTR_variant COAD-US 12 95912009 95912009 single base substitution A G missense_variant L687P 2060T>C COAD-US 12 95914893 95914893 single base substitution C T downstream_gene_variant COAD-US 12 95914893 95914893 single base substitution C T intron_variant COAD-US 12 95914893 95914893 single base substitution C T missense_variant E607K 1819G>A COAD-US 12 95927023 95927026 deletion of <=200bp CATT - downstream_gene_variant COAD-US 12 95927023 95927026 deletion of <=200bp CATT - frameshift_variant EC336 COAD-US 12 95927023 95927026 deletion of <=200bp CATT - upstream_gene_variant COAD-US 12 95927116 95927116 single base substitution A G downstream_gene_variant COAD-US 12 95927116 95927116 single base substitution A G missense_variant L306P 917T>C COAD-US 12 95927116 95927116 single base substitution A G upstream_gene_variant COAD-US 12 95927298 95927298 single base substitution T C downstream_gene_variant COAD-US 12 95927298 95927298 single base substitution T C synonymous_variant V245V 735A>G COAD-US 12 95927298 95927298 single base substitution T C upstream_gene_variant COAD-US 12 95927367 95927367 single base substitution C T downstream_gene_variant COAD-US 12 95927367 95927367 single base substitution C T synonymous_variant S222S 666G>A COAD-US 12 95927367 95927367 single base substitution C T upstream_gene_variant COAD-US 12 95927513 95927513 single base substitution T A downstream_gene_variant COAD-US 12 95927513 95927513 single base substitution T A stop_gained K174* 520A>T COAD-US 12 95927513 95927513 single base substitution T A upstream_gene_variant COAD-US 12 95927672 95927672 single base substitution G A downstream_gene_variant COAD-US 12 95927672 95927672 single base substitution G A missense_variant R121W 361C>T COAD-US 12 95927672 95927672 single base substitution G A upstream_gene_variant COCA-CN 12 95906588 95906588 single base substitution A G downstream_gene_variant COCA-CN 12 95909892 95909892 single base substitution T G downstream_gene_variant COCA-CN 12 95912105 95912105 single base substitution G A 3_prime_UTR_variant COCA-CN 12 95912105 95912105 single base substitution G A missense_variant S655F 1964C>T COCA-CN 12 95912108 95912108 single base substitution T G 3_prime_UTR_variant COCA-CN 12 95912108 95912108 single base substitution T G missense_variant D654A 1961A>C COCA-CN 12 95922782 95922782 single base substitution C T downstream_gene_variant COCA-CN 12 95922782 95922782 single base substitution C T intron_variant COCA-CN 12 95922782 95922782 single base substitution C T splice_region_variant COCA-CN 12 95922782 95922782 single base substitution C T upstream_gene_variant COCA-CN 12 95922835 95922835 single base substitution C A downstream_gene_variant COCA-CN 12 95922835 95922835 single base substitution C A intron_variant COCA-CN 12 95922835 95922835 single base substitution C A upstream_gene_variant ESAD-UK 12 95905558 95905558 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 95907555 95907555 single base substitution T A downstream_gene_variant ESAD-UK 12 95910123 95910123 single base substitution A C downstream_gene_variant ESAD-UK 12 95913031 95913031 single base substitution T G intron_variant ESAD-UK 12 95914477 95914477 single base substitution G C downstream_gene_variant ESAD-UK 12 95914477 95914477 single base substitution G C intron_variant ESAD-UK 12 95915958 95915958 single base substitution G A downstream_gene_variant ESAD-UK 12 95915958 95915958 single base substitution G A intron_variant ESAD-UK 12 95916221 95916221 single base substitution C G downstream_gene_variant ESAD-UK 12 95916221 95916221 single base substitution C G intron_variant ESAD-UK 12 95916605 95916605 single base substitution C T downstream_gene_variant ESAD-UK 12 95916605 95916605 single base substitution C T intron_variant ESAD-UK 12 95917611 95917611 single base substitution T C downstream_gene_variant ESAD-UK 12 95917611 95917611 single base substitution T C intron_variant ESAD-UK 12 95918372 95918372 single base substitution A G exon_variant ESAD-UK 12 95918372 95918372 single base substitution A G intron_variant ESAD-UK 12 95918994 95918994 single base substitution C T intron_variant ESAD-UK 12 95922465 95922465 single base substitution G C intron_variant ESAD-UK 12 95923041 95923041 single base substitution A C downstream_gene_variant ESAD-UK 12 95923041 95923041 single base substitution A C intron_variant ESAD-UK 12 95923041 95923041 single base substitution A C upstream_gene_variant ESAD-UK 12 95923385 95923385 single base substitution C T downstream_gene_variant ESAD-UK 12 95923385 95923385 single base substitution C T intron_variant ESAD-UK 12 95923385 95923385 single base substitution C T upstream_gene_variant ESAD-UK 12 95923510 95923510 single base substitution T C downstream_gene_variant ESAD-UK 12 95923510 95923510 single base substitution T C intron_variant ESAD-UK 12 95923510 95923510 single base substitution T C upstream_gene_variant ESAD-UK 12 95924998 95924998 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 95924998 95924998 insertion of <=200bp - A intron_variant ESAD-UK 12 95924998 95924998 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 95925836 95925836 single base substitution G C downstream_gene_variant ESAD-UK 12 95925836 95925836 single base substitution G C intron_variant ESAD-UK 12 95925836 95925836 single base substitution G C upstream_gene_variant ESAD-UK 12 95929921 95929921 single base substitution C T intron_variant ESAD-UK 12 95929921 95929921 single base substitution C T upstream_gene_variant ESAD-UK 12 95930049 95930049 single base substitution C A intron_variant ESAD-UK 12 95930049 95930049 single base substitution C A upstream_gene_variant ESAD-UK 12 95933240 95933240 single base substitution G A intron_variant ESAD-UK 12 95934580 95934580 single base substitution T C intron_variant ESAD-UK 12 95934627 95934627 single base substitution C G intron_variant ESAD-UK 12 95935369 95935369 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 95935369 95935369 deletion of <=200bp A - intron_variant ESAD-UK 12 95937029 95937029 single base substitution T C downstream_gene_variant ESAD-UK 12 95937029 95937029 single base substitution T C intron_variant ESAD-UK 12 95940187 95940187 single base substitution G T downstream_gene_variant ESAD-UK 12 95940187 95940187 single base substitution G T intron_variant ESAD-UK 12 95941527 95941527 single base substitution C A intron_variant ESAD-UK 12 95941571 95941571 single base substitution C T intron_variant ESAD-UK 12 95942082 95942082 single base substitution G A intron_variant ESAD-UK 12 95942082 95942082 single base substitution G A upstream_gene_variant ESAD-UK 12 95942668 95942668 single base substitution C A intron_variant ESAD-UK 12 95942668 95942668 single base substitution C A upstream_gene_variant ESAD-UK 12 95942789 95942789 single base substitution G A intron_variant ESAD-UK 12 95942789 95942789 single base substitution G A upstream_gene_variant ESAD-UK 12 95944134 95944134 single base substitution A G intron_variant ESAD-UK 12 95944134 95944134 single base substitution A G upstream_gene_variant ESAD-UK 12 95944666 95944666 single base substitution C A intron_variant ESAD-UK 12 95944666 95944666 single base substitution C A upstream_gene_variant ESAD-UK 12 95946281 95946281 single base substitution A T upstream_gene_variant ESAD-UK 12 95946448 95946448 single base substitution T G upstream_gene_variant ESAD-UK 12 95948118 95948118 single base substitution C T upstream_gene_variant ESAD-UK 12 95948262 95948262 single base substitution A T upstream_gene_variant ESCA-CN 12 95927842 95927842 single base substitution C A missense_variant S64I 191G>T ESCA-CN 12 95945172 95945172 single base substitution G C 5_prime_UTR_variant ESCA-CN 12 95945172 95945172 single base substitution G C upstream_gene_variant KIRP-US 12 95907438 95907438 single base substitution A G downstream_gene_variant LAML-KR 12 95914908 95914908 single base substitution G A downstream_gene_variant LAML-KR 12 95914908 95914908 single base substitution G A intron_variant LAML-KR 12 95914908 95914908 single base substitution G A missense_variant P602S 1804C>T LAML-KR 12 95926559 95926559 single base substitution T A downstream_gene_variant LAML-KR 12 95926559 95926559 single base substitution T A intron_variant LAML-KR 12 95926559 95926559 single base substitution T A upstream_gene_variant LAML-KR 12 95946565 95946565 single base substitution T C upstream_gene_variant LGG-US 12 95914959 95914959 single base substitution G A downstream_gene_variant LGG-US 12 95914959 95914959 single base substitution G A intron_variant LGG-US 12 95914959 95914959 single base substitution G A stop_gained R585* 1753C>T LGG-US 12 95926723 95926723 single base substitution C T downstream_gene_variant LGG-US 12 95926723 95926723 single base substitution C T missense_variant R437H 1310G>A LGG-US 12 95926723 95926723 single base substitution C T upstream_gene_variant LICA-FR 12 95926604 95926604 single base substitution C T downstream_gene_variant LICA-FR 12 95926604 95926604 single base substitution C T splice_donor_variant LICA-FR 12 95926604 95926604 single base substitution C T upstream_gene_variant LICA-FR 12 95926899 95926899 single base substitution G A downstream_gene_variant LICA-FR 12 95926899 95926899 single base substitution G A synonymous_variant Y378Y 1134C>T LICA-FR 12 95926899 95926899 single base substitution G A upstream_gene_variant LICA-FR 12 95926911 95926911 single base substitution T A downstream_gene_variant LICA-FR 12 95926911 95926911 single base substitution T A synonymous_variant P374P 1122A>T LICA-FR 12 95926911 95926911 single base substitution T A upstream_gene_variant LICA-FR 12 95937766 95937766 single base substitution G A downstream_gene_variant LICA-FR 12 95937766 95937766 single base substitution G A intron_variant LIHC-US 12 95905678 95905678 single base substitution A C downstream_gene_variant LIHC-US 12 95922582 95922582 single base substitution C T downstream_gene_variant LIHC-US 12 95922582 95922582 single base substitution C T intron_variant LIHC-US 12 95922582 95922582 single base substitution C T splice_donor_variant LINC-JP 12 95907256 95907256 single base substitution A G downstream_gene_variant LINC-JP 12 95908573 95908573 single base substitution C A downstream_gene_variant LINC-JP 12 95912007 95912007 single base substitution A C 3_prime_UTR_variant LINC-JP 12 95912007 95912007 single base substitution A C missense_variant L688V 2062T>G LINC-JP 12 95918573 95918573 single base substitution T A intron_variant LINC-JP 12 95920573 95920573 single base substitution T C intron_variant LINC-JP 12 95948260 95948260 single base substitution T A upstream_gene_variant LIRI-JP 12 95905364 95905364 single base substitution C T downstream_gene_variant LIRI-JP 12 95905832 95905832 single base substitution A G downstream_gene_variant LIRI-JP 12 95907854 95907854 single base substitution C G downstream_gene_variant LIRI-JP 12 95908291 95908291 single base substitution C T downstream_gene_variant LIRI-JP 12 95908916 95908916 single base substitution G A downstream_gene_variant LIRI-JP 12 95911057 95911058 deletion of <=200bp CT - 3_prime_UTR_variant LIRI-JP 12 95911057 95911058 deletion of <=200bp CT - downstream_gene_variant LIRI-JP 12 95912576 95912576 single base substitution G A intron_variant LIRI-JP 12 95916049 95916049 single base substitution A T downstream_gene_variant LIRI-JP 12 95916049 95916049 single base substitution A T intron_variant LIRI-JP 12 95917076 95917076 single base substitution A G downstream_gene_variant LIRI-JP 12 95917076 95917076 single base substitution A G intron_variant LIRI-JP 12 95919793 95919793 single base substitution A G intron_variant LIRI-JP 12 95920382 95920382 single base substitution G T intron_variant LIRI-JP 12 95922364 95922364 single base substitution A G intron_variant LIRI-JP 12 95924656 95924656 single base substitution T A downstream_gene_variant LIRI-JP 12 95924656 95924656 single base substitution T A intron_variant LIRI-JP 12 95924656 95924656 single base substitution T A upstream_gene_variant LIRI-JP 12 95926137 95926137 single base substitution T G downstream_gene_variant LIRI-JP 12 95926137 95926137 single base substitution T G intron_variant LIRI-JP 12 95926137 95926137 single base substitution T G upstream_gene_variant LIRI-JP 12 95926246 95926246 single base substitution G A downstream_gene_variant LIRI-JP 12 95926246 95926246 single base substitution G A intron_variant LIRI-JP 12 95926246 95926246 single base substitution G A upstream_gene_variant LIRI-JP 12 95927128 95927128 deletion of <=200bp A - downstream_gene_variant LIRI-JP 12 95927128 95927128 deletion of <=200bp A - frameshift_variant L302 LIRI-JP 12 95927128 95927128 deletion of <=200bp A - upstream_gene_variant LIRI-JP 12 95927207 95927207 single base substitution T G downstream_gene_variant LIRI-JP 12 95927207 95927207 single base substitution T G synonymous_variant R276R 826A>C LIRI-JP 12 95927207 95927207 single base substitution T G upstream_gene_variant LIRI-JP 12 95927265 95927265 single base substitution T C downstream_gene_variant LIRI-JP 12 95927265 95927265 single base substitution T C synonymous_variant K256K 768A>G LIRI-JP 12 95927265 95927265 single base substitution T C upstream_gene_variant LIRI-JP 12 95927679 95927679 single base substitution C T downstream_gene_variant LIRI-JP 12 95927679 95927679 single base substitution C T synonymous_variant R118R 354G>A LIRI-JP 12 95927679 95927679 single base substitution C T upstream_gene_variant LIRI-JP 12 95928361 95928361 single base substitution A T intron_variant LIRI-JP 12 95928361 95928361 single base substitution A T upstream_gene_variant LIRI-JP 12 95929399 95929399 single base substitution A G intron_variant LIRI-JP 12 95929399 95929399 single base substitution A G upstream_gene_variant LIRI-JP 12 95932741 95932741 single base substitution A G intron_variant LIRI-JP 12 95932741 95932741 single base substitution A G upstream_gene_variant LIRI-JP 12 95932880 95932883 deletion of <=200bp CTAT - intron_variant LIRI-JP 12 95932880 95932883 deletion of <=200bp CTAT - upstream_gene_variant LIRI-JP 12 95933689 95933689 single base substitution T C intron_variant LIRI-JP 12 95934831 95934831 single base substitution G T intron_variant LIRI-JP 12 95936155 95936155 single base substitution A G downstream_gene_variant LIRI-JP 12 95936155 95936155 single base substitution A G intron_variant LIRI-JP 12 95937870 95937870 single base substitution G A downstream_gene_variant LIRI-JP 12 95937870 95937870 single base substitution G A intron_variant LIRI-JP 12 95938838 95938838 single base substitution C T downstream_gene_variant LIRI-JP 12 95938838 95938838 single base substitution C T intron_variant LIRI-JP 12 95941043 95941043 single base substitution A G intron_variant LIRI-JP 12 95941122 95941122 single base substitution A G intron_variant LIRI-JP 12 95941553 95941553 single base substitution T C intron_variant LIRI-JP 12 95941929 95941929 insertion of <=200bp - TG 5_prime_UTR_variant LIRI-JP 12 95941929 95941929 insertion of <=200bp - TG intron_variant LIRI-JP 12 95943309 95943309 single base substitution C A intron_variant LIRI-JP 12 95943309 95943309 single base substitution C A upstream_gene_variant LIRI-JP 12 95943310 95943310 single base substitution C G intron_variant LIRI-JP 12 95943310 95943310 single base substitution C G upstream_gene_variant LIRI-JP 12 95943941 95943941 single base substitution G T intron_variant LIRI-JP 12 95943941 95943941 single base substitution G T upstream_gene_variant LIRI-JP 12 95944515 95944515 single base substitution C G intron_variant LIRI-JP 12 95944515 95944515 single base substitution C G upstream_gene_variant LIRI-JP 12 95945777 95945777 single base substitution A G upstream_gene_variant LIRI-JP 12 95946417 95946417 single base substitution C T upstream_gene_variant LIRI-JP 12 95946632 95946632 single base substitution T C upstream_gene_variant LIRI-JP 12 95948583 95948583 single base substitution A G upstream_gene_variant LIRI-JP 12 95949703 95949703 single base substitution A G upstream_gene_variant LIRI-JP 12 95949966 95949966 single base substitution C T upstream_gene_variant LUSC-KR 12 95909895 95909895 single base substitution T G downstream_gene_variant LUSC-KR 12 95912699 95912699 single base substitution G C intron_variant LUSC-KR 12 95915636 95915636 single base substitution C G downstream_gene_variant LUSC-KR 12 95915636 95915636 single base substitution C G intron_variant LUSC-KR 12 95919528 95919528 single base substitution G C intron_variant LUSC-KR 12 95920101 95920101 single base substitution C T intron_variant LUSC-KR 12 95921635 95921635 single base substitution G T intron_variant LUSC-KR 12 95927032 95927032 single base substitution A T downstream_gene_variant LUSC-KR 12 95927032 95927032 single base substitution A T missense_variant M334K 1001T>A LUSC-KR 12 95927032 95927032 single base substitution A T upstream_gene_variant LUSC-KR 12 95932719 95932719 single base substitution G C intron_variant LUSC-KR 12 95932719 95932719 single base substitution G C upstream_gene_variant LUSC-KR 12 95936662 95936662 single base substitution A G downstream_gene_variant LUSC-KR 12 95936662 95936662 single base substitution A G intron_variant LUSC-KR 12 95937040 95937040 single base substitution G T downstream_gene_variant LUSC-KR 12 95937040 95937040 single base substitution G T intron_variant LUSC-KR 12 95939353 95939353 single base substitution C G downstream_gene_variant LUSC-KR 12 95939353 95939353 single base substitution C G intron_variant LUSC-KR 12 95939940 95939940 single base substitution C T downstream_gene_variant LUSC-KR 12 95939940 95939940 single base substitution C T intron_variant LUSC-KR 12 95943340 95943340 single base substitution C G intron_variant LUSC-KR 12 95943340 95943340 single base substitution C G upstream_gene_variant LUSC-US 12 95907432 95907432 single base substitution C T downstream_gene_variant LUSC-US 12 95907481 95907481 single base substitution T C downstream_gene_variant MALY-DE 12 95909790 95909790 deletion of <=200bp C - downstream_gene_variant MALY-DE 12 95920359 95920359 deletion of <=200bp A - intron_variant MALY-DE 12 95924651 95924651 single base substitution T G downstream_gene_variant MALY-DE 12 95924651 95924651 single base substitution T G intron_variant MALY-DE 12 95924651 95924651 single base substitution T G upstream_gene_variant MALY-DE 12 95925818 95925818 single base substitution A C downstream_gene_variant MALY-DE 12 95925818 95925818 single base substitution A C intron_variant MALY-DE 12 95925818 95925818 single base substitution A C upstream_gene_variant MALY-DE 12 95934083 95934083 single base substitution C A intron_variant MALY-DE 12 95937806 95937806 single base substitution A C downstream_gene_variant MALY-DE 12 95937806 95937806 single base substitution A C intron_variant MALY-DE 12 95944134 95944134 single base substitution A G intron_variant MALY-DE 12 95944134 95944134 single base substitution A G upstream_gene_variant MALY-DE 12 95950002 95950002 single base substitution A T upstream_gene_variant MELA-AU 12 95905518 95905518 single base substitution C T downstream_gene_variant MELA-AU 12 95905852 95905852 single base substitution A G downstream_gene_variant MELA-AU 12 95908085 95908085 single base substitution C T downstream_gene_variant MELA-AU 12 95908437 95908437 single base substitution G A downstream_gene_variant MELA-AU 12 95908621 95908621 single base substitution C T downstream_gene_variant MELA-AU 12 95908762 95908762 single base substitution A T downstream_gene_variant MELA-AU 12 95909926 95909926 single base substitution C T downstream_gene_variant MELA-AU 12 95910119 95910119 single base substitution C T downstream_gene_variant MELA-AU 12 95910371 95910371 single base substitution A G 3_prime_UTR_variant MELA-AU 12 95910371 95910371 single base substitution A G downstream_gene_variant MELA-AU 12 95911496 95911496 single base substitution C T 3_prime_UTR_variant MELA-AU 12 95911496 95911496 single base substitution C T downstream_gene_variant MELA-AU 12 95911659 95911659 single base substitution C T 3_prime_UTR_variant MELA-AU 12 95911659 95911659 single base substitution C T downstream_gene_variant MELA-AU 12 95911851 95911851 single base substitution A G 3_prime_UTR_variant MELA-AU 12 95911851 95911851 single base substitution A G downstream_gene_variant MELA-AU 12 95912568 95912568 single base substitution C T intron_variant MELA-AU 12 95912682 95912682 single base substitution C T intron_variant MELA-AU 12 95913365 95913365 single base substitution C A downstream_gene_variant MELA-AU 12 95913365 95913365 single base substitution C A intron_variant MELA-AU 12 95914124 95914124 single base substitution C T downstream_gene_variant MELA-AU 12 95914124 95914124 single base substitution C T intron_variant MELA-AU 12 95914826 95914826 single base substitution C T downstream_gene_variant MELA-AU 12 95914826 95914826 single base substitution C T intron_variant MELA-AU 12 95914826 95914826 single base substitution C T missense_variant G629E 1886G>A MELA-AU 12 95914927 95914927 single base substitution C T downstream_gene_variant MELA-AU 12 95914927 95914927 single base substitution C T intron_variant MELA-AU 12 95914927 95914927 single base substitution C T synonymous_variant E595E 1785G>A MELA-AU 12 95915074 95915074 single base substitution G A downstream_gene_variant MELA-AU 12 95915074 95915074 single base substitution G A intron_variant MELA-AU 12 95915105 95915105 single base substitution G A downstream_gene_variant MELA-AU 12 95915105 95915105 single base substitution G A intron_variant MELA-AU 12 95915264 95915265 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 95915264 95915265 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 95915302 95915302 single base substitution G A downstream_gene_variant MELA-AU 12 95915302 95915302 single base substitution G A intron_variant MELA-AU 12 95915341 95915341 single base substitution G A downstream_gene_variant MELA-AU 12 95915341 95915341 single base substitution G A intron_variant MELA-AU 12 95915531 95915531 single base substitution G A downstream_gene_variant MELA-AU 12 95915531 95915531 single base substitution G A intron_variant MELA-AU 12 95916467 95916467 single base substitution T C downstream_gene_variant MELA-AU 12 95916467 95916467 single base substitution T C intron_variant MELA-AU 12 95916473 95916473 single base substitution G A downstream_gene_variant MELA-AU 12 95916473 95916473 single base substitution G A intron_variant MELA-AU 12 95916649 95916649 single base substitution C T downstream_gene_variant MELA-AU 12 95916649 95916649 single base substitution C T intron_variant MELA-AU 12 95917018 95917018 single base substitution G A downstream_gene_variant MELA-AU 12 95917018 95917018 single base substitution G A intron_variant MELA-AU 12 95917284 95917284 single base substitution C T downstream_gene_variant MELA-AU 12 95917284 95917284 single base substitution C T intron_variant MELA-AU 12 95917383 95917383 single base substitution T C downstream_gene_variant MELA-AU 12 95917383 95917383 single base substitution T C intron_variant MELA-AU 12 95917787 95917787 single base substitution G A downstream_gene_variant MELA-AU 12 95917787 95917787 single base substitution G A intron_variant MELA-AU 12 95918127 95918127 single base substitution G A downstream_gene_variant MELA-AU 12 95918127 95918127 single base substitution G A intron_variant MELA-AU 12 95918135 95918136 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 12 95918135 95918136 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 12 95918211 95918211 single base substitution C T downstream_gene_variant MELA-AU 12 95918211 95918211 single base substitution C T intron_variant MELA-AU 12 95918376 95918376 single base substitution A C exon_variant MELA-AU 12 95918376 95918376 single base substitution A C intron_variant MELA-AU 12 95918499 95918499 single base substitution A T 3_prime_UTR_variant MELA-AU 12 95918499 95918499 single base substitution A T exon_variant MELA-AU 12 95918499 95918499 single base substitution A T missense_variant C564S 1690T>A MELA-AU 12 95918557 95918557 single base substitution A T exon_variant MELA-AU 12 95918557 95918557 single base substitution A T missense_variant V479E 1436T>A MELA-AU 12 95918557 95918557 single base substitution A T synonymous_variant R544R 1632T>A MELA-AU 12 95918963 95918963 single base substitution T G intron_variant MELA-AU 12 95919067 95919067 single base substitution C T intron_variant MELA-AU 12 95919299 95919299 single base substitution C T intron_variant MELA-AU 12 95919496 95919496 single base substitution G A intron_variant MELA-AU 12 95919523 95919523 single base substitution C T intron_variant MELA-AU 12 95919711 95919711 single base substitution C T intron_variant MELA-AU 12 95919725 95919725 single base substitution A G intron_variant MELA-AU 12 95920269 95920269 single base substitution A G intron_variant MELA-AU 12 95920477 95920477 single base substitution G A intron_variant MELA-AU 12 95921141 95921141 single base substitution G A intron_variant MELA-AU 12 95921177 95921177 single base substitution C T intron_variant MELA-AU 12 95921289 95921289 single base substitution C T intron_variant MELA-AU 12 95921529 95921529 single base substitution A T intron_variant MELA-AU 12 95921864 95921864 single base substitution C T intron_variant MELA-AU 12 95921968 95921968 single base substitution C T intron_variant MELA-AU 12 95921981 95921981 single base substitution C T intron_variant MELA-AU 12 95922949 95922949 single base substitution C T downstream_gene_variant MELA-AU 12 95922949 95922949 single base substitution C T intron_variant MELA-AU 12 95922949 95922949 single base substitution C T upstream_gene_variant MELA-AU 12 95923592 95923592 single base substitution C T downstream_gene_variant MELA-AU 12 95923592 95923592 single base substitution C T intron_variant MELA-AU 12 95923592 95923592 single base substitution C T upstream_gene_variant MELA-AU 12 95924056 95924056 single base substitution T G downstream_gene_variant MELA-AU 12 95924056 95924056 single base substitution T G intron_variant MELA-AU 12 95924056 95924056 single base substitution T G upstream_gene_variant MELA-AU 12 95924403 95924403 single base substitution A G downstream_gene_variant MELA-AU 12 95924403 95924403 single base substitution A G intron_variant MELA-AU 12 95924403 95924403 single base substitution A G upstream_gene_variant MELA-AU 12 95924731 95924731 single base substitution G A downstream_gene_variant MELA-AU 12 95924731 95924731 single base substitution G A intron_variant MELA-AU 12 95924731 95924731 single base substitution G A upstream_gene_variant MELA-AU 12 95924762 95924762 single base substitution A G downstream_gene_variant MELA-AU 12 95924762 95924762 single base substitution A G intron_variant MELA-AU 12 95924762 95924762 single base substitution A G upstream_gene_variant MELA-AU 12 95924803 95924803 single base substitution G A downstream_gene_variant MELA-AU 12 95924803 95924803 single base substitution G A intron_variant MELA-AU 12 95924803 95924803 single base substitution G A upstream_gene_variant MELA-AU 12 95924835 95924835 single base substitution G A downstream_gene_variant MELA-AU 12 95924835 95924835 single base substitution G A intron_variant MELA-AU 12 95924835 95924835 single base substitution G A upstream_gene_variant MELA-AU 12 95925128 95925128 single base substitution G A downstream_gene_variant MELA-AU 12 95925128 95925128 single base substitution G A intron_variant MELA-AU 12 95925128 95925128 single base substitution G A upstream_gene_variant MELA-AU 12 95925218 95925218 single base substitution G A downstream_gene_variant MELA-AU 12 95925218 95925218 single base substitution G A intron_variant MELA-AU 12 95925218 95925218 single base substitution G A upstream_gene_variant MELA-AU 12 95925229 95925229 single base substitution G A downstream_gene_variant MELA-AU 12 95925229 95925229 single base substitution G A intron_variant MELA-AU 12 95925229 95925229 single base substitution G A upstream_gene_variant MELA-AU 12 95925484 95925484 single base substitution G A downstream_gene_variant MELA-AU 12 95925484 95925484 single base substitution G A intron_variant MELA-AU 12 95925484 95925484 single base substitution G A upstream_gene_variant MELA-AU 12 95925544 95925544 single base substitution G A downstream_gene_variant MELA-AU 12 95925544 95925544 single base substitution G A intron_variant MELA-AU 12 95925544 95925544 single base substitution G A upstream_gene_variant MELA-AU 12 95925582 95925582 single base substitution C T downstream_gene_variant MELA-AU 12 95925582 95925582 single base substitution C T intron_variant MELA-AU 12 95925582 95925582 single base substitution C T upstream_gene_variant MELA-AU 12 95925741 95925741 single base substitution G A downstream_gene_variant MELA-AU 12 95925741 95925741 single base substitution G A intron_variant MELA-AU 12 95925741 95925741 single base substitution G A upstream_gene_variant MELA-AU 12 95925750 95925750 single base substitution G A downstream_gene_variant MELA-AU 12 95925750 95925750 single base substitution G A intron_variant MELA-AU 12 95925750 95925750 single base substitution G A upstream_gene_variant MELA-AU 12 95925824 95925824 single base substitution C T downstream_gene_variant MELA-AU 12 95925824 95925824 single base substitution C T intron_variant MELA-AU 12 95925824 95925824 single base substitution C T upstream_gene_variant MELA-AU 12 95926264 95926264 single base substitution G A downstream_gene_variant MELA-AU 12 95926264 95926264 single base substitution G A intron_variant MELA-AU 12 95926264 95926264 single base substitution G A upstream_gene_variant MELA-AU 12 95926425 95926425 single base substitution A C downstream_gene_variant MELA-AU 12 95926425 95926425 single base substitution A C intron_variant MELA-AU 12 95926425 95926425 single base substitution A C upstream_gene_variant MELA-AU 12 95926546 95926546 single base substitution T C downstream_gene_variant MELA-AU 12 95926546 95926546 single base substitution T C intron_variant MELA-AU 12 95926546 95926546 single base substitution T C upstream_gene_variant MELA-AU 12 95927181 95927181 single base substitution C T downstream_gene_variant MELA-AU 12 95927181 95927181 single base substitution C T missense_variant M284I 852G>A MELA-AU 12 95927181 95927181 single base substitution C T upstream_gene_variant MELA-AU 12 95927470 95927470 single base substitution C T downstream_gene_variant MELA-AU 12 95927470 95927470 single base substitution C T missense_variant R188K 563G>A MELA-AU 12 95927470 95927470 single base substitution C T upstream_gene_variant MELA-AU 12 95928451 95928451 insertion of <=200bp - C intron_variant MELA-AU 12 95928451 95928451 insertion of <=200bp - C upstream_gene_variant MELA-AU 12 95928454 95928454 single base substitution T C intron_variant MELA-AU 12 95928454 95928454 single base substitution T C upstream_gene_variant MELA-AU 12 95929307 95929307 single base substitution G A intron_variant MELA-AU 12 95929307 95929307 single base substitution G A upstream_gene_variant MELA-AU 12 95929353 95929353 single base substitution G A intron_variant MELA-AU 12 95929353 95929353 single base substitution G A upstream_gene_variant MELA-AU 12 95929375 95929375 single base substitution A T intron_variant MELA-AU 12 95929375 95929375 single base substitution A T upstream_gene_variant MELA-AU 12 95929402 95929402 single base substitution G A intron_variant MELA-AU 12 95929402 95929402 single base substitution G A upstream_gene_variant MELA-AU 12 95929770 95929770 single base substitution C T intron_variant MELA-AU 12 95929770 95929770 single base substitution C T upstream_gene_variant MELA-AU 12 95929813 95929813 single base substitution T C intron_variant MELA-AU 12 95929813 95929813 single base substitution T C upstream_gene_variant MELA-AU 12 95930064 95930064 single base substitution C T intron_variant MELA-AU 12 95930064 95930064 single base substitution C T upstream_gene_variant MELA-AU 12 95930845 95930845 single base substitution G A intron_variant MELA-AU 12 95930845 95930845 single base substitution G A upstream_gene_variant MELA-AU 12 95931034 95931034 single base substitution A G intron_variant MELA-AU 12 95931034 95931034 single base substitution A G upstream_gene_variant MELA-AU 12 95931281 95931281 single base substitution G A intron_variant MELA-AU 12 95931281 95931281 single base substitution G A upstream_gene_variant MELA-AU 12 95931435 95931435 single base substitution G A intron_variant MELA-AU 12 95931435 95931435 single base substitution G A upstream_gene_variant MELA-AU 12 95931564 95931564 single base substitution A G intron_variant MELA-AU 12 95931564 95931564 single base substitution A G upstream_gene_variant MELA-AU 12 95931732 95931732 single base substitution A G intron_variant MELA-AU 12 95931732 95931732 single base substitution A G upstream_gene_variant MELA-AU 12 95931746 95931746 single base substitution C T intron_variant MELA-AU 12 95931746 95931746 single base substitution C T upstream_gene_variant MELA-AU 12 95931805 95931805 single base substitution G A intron_variant MELA-AU 12 95931805 95931805 single base substitution G A upstream_gene_variant MELA-AU 12 95932061 95932061 single base substitution G A intron_variant MELA-AU 12 95932061 95932061 single base substitution G A upstream_gene_variant MELA-AU 12 95932289 95932289 single base substitution G A intron_variant MELA-AU 12 95932289 95932289 single base substitution G A upstream_gene_variant MELA-AU 12 95932597 95932597 single base substitution G A intron_variant MELA-AU 12 95932597 95932597 single base substitution G A upstream_gene_variant MELA-AU 12 95932608 95932608 single base substitution G A intron_variant MELA-AU 12 95932608 95932608 single base substitution G A upstream_gene_variant MELA-AU 12 95932788 95932788 single base substitution C T intron_variant MELA-AU 12 95932788 95932788 single base substitution C T upstream_gene_variant MELA-AU 12 95933223 95933223 single base substitution C T intron_variant MELA-AU 12 95933379 95933379 single base substitution C A intron_variant MELA-AU 12 95933662 95933662 single base substitution C T intron_variant MELA-AU 12 95933868 95933868 single base substitution G A intron_variant MELA-AU 12 95934163 95934163 single base substitution G A intron_variant MELA-AU 12 95934314 95934314 single base substitution C G intron_variant MELA-AU 12 95934530 95934530 single base substitution G A intron_variant MELA-AU 12 95935060 95935060 single base substitution A T intron_variant MELA-AU 12 95935959 95935959 single base substitution C T downstream_gene_variant MELA-AU 12 95935959 95935959 single base substitution C T intron_variant MELA-AU 12 95936131 95936131 single base substitution C T downstream_gene_variant MELA-AU 12 95936131 95936131 single base substitution C T intron_variant MELA-AU 12 95936818 95936818 single base substitution C T downstream_gene_variant MELA-AU 12 95936818 95936818 single base substitution C T intron_variant MELA-AU 12 95937295 95937295 single base substitution G A downstream_gene_variant MELA-AU 12 95937295 95937295 single base substitution G A intron_variant MELA-AU 12 95937697 95937697 single base substitution C T downstream_gene_variant MELA-AU 12 95937697 95937697 single base substitution C T intron_variant MELA-AU 12 95938143 95938143 single base substitution C T downstream_gene_variant MELA-AU 12 95938143 95938143 single base substitution C T intron_variant MELA-AU 12 95938182 95938182 single base substitution A G downstream_gene_variant MELA-AU 12 95938182 95938182 single base substitution A G intron_variant MELA-AU 12 95938228 95938228 single base substitution G A downstream_gene_variant MELA-AU 12 95938228 95938228 single base substitution G A intron_variant MELA-AU 12 95938253 95938253 single base substitution C T downstream_gene_variant MELA-AU 12 95938253 95938253 single base substitution C T intron_variant MELA-AU 12 95938449 95938449 single base substitution G A downstream_gene_variant MELA-AU 12 95938449 95938449 single base substitution G A intron_variant MELA-AU 12 95938921 95938921 single base substitution G A downstream_gene_variant MELA-AU 12 95938921 95938921 single base substitution G A intron_variant MELA-AU 12 95938981 95938981 single base substitution T C downstream_gene_variant MELA-AU 12 95938981 95938981 single base substitution T C intron_variant MELA-AU 12 95939162 95939162 single base substitution A T downstream_gene_variant MELA-AU 12 95939162 95939162 single base substitution A T intron_variant MELA-AU 12 95940090 95940090 single base substitution C T downstream_gene_variant MELA-AU 12 95940090 95940090 single base substitution C T intron_variant MELA-AU 12 95940996 95940996 single base substitution T G intron_variant MELA-AU 12 95941180 95941180 single base substitution C T intron_variant MELA-AU 12 95941421 95941421 single base substitution G A intron_variant MELA-AU 12 95941528 95941528 single base substitution C T intron_variant MELA-AU 12 95941573 95941573 single base substitution G A intron_variant MELA-AU 12 95942552 95942552 single base substitution C T 5_prime_UTR_variant MELA-AU 12 95942552 95942552 single base substitution C T intron_variant MELA-AU 12 95942552 95942552 single base substitution C T upstream_gene_variant MELA-AU 12 95942901 95942901 single base substitution G A intron_variant MELA-AU 12 95942901 95942901 single base substitution G A upstream_gene_variant MELA-AU 12 95942914 95942914 single base substitution C T intron_variant MELA-AU 12 95942914 95942914 single base substitution C T upstream_gene_variant MELA-AU 12 95942932 95942932 single base substitution G A intron_variant MELA-AU 12 95942932 95942932 single base substitution G A upstream_gene_variant MELA-AU 12 95943219 95943219 single base substitution G A intron_variant MELA-AU 12 95943219 95943219 single base substitution G A upstream_gene_variant MELA-AU 12 95943619 95943619 single base substitution G A intron_variant MELA-AU 12 95943619 95943619 single base substitution G A upstream_gene_variant MELA-AU 12 95943951 95943952 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 95943951 95943952 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 95944422 95944422 single base substitution C T intron_variant MELA-AU 12 95944422 95944422 single base substitution C T upstream_gene_variant MELA-AU 12 95944522 95944522 single base substitution G A intron_variant MELA-AU 12 95944522 95944522 single base substitution G A upstream_gene_variant MELA-AU 12 95944721 95944721 single base substitution A C intron_variant MELA-AU 12 95944721 95944721 single base substitution A C upstream_gene_variant MELA-AU 12 95944856 95944856 single base substitution C G intron_variant MELA-AU 12 95944856 95944856 single base substitution C G upstream_gene_variant MELA-AU 12 95945130 95945130 single base substitution C T 5_prime_UTR_variant MELA-AU 12 95945130 95945130 single base substitution C T upstream_gene_variant MELA-AU 12 95945199 95945199 single base substitution C T 5_prime_UTR_variant MELA-AU 12 95945199 95945199 single base substitution C T upstream_gene_variant MELA-AU 12 95945258 95945258 single base substitution C T 5_prime_UTR_variant MELA-AU 12 95945258 95945258 single base substitution C T upstream_gene_variant MELA-AU 12 95945782 95945782 single base substitution C T upstream_gene_variant MELA-AU 12 95945800 95945800 single base substitution G A upstream_gene_variant MELA-AU 12 95945805 95945805 single base substitution G A upstream_gene_variant MELA-AU 12 95945808 95945808 single base substitution G A upstream_gene_variant MELA-AU 12 95945856 95945856 single base substitution G A upstream_gene_variant MELA-AU 12 95946132 95946132 single base substitution G A upstream_gene_variant MELA-AU 12 95946851 95946851 single base substitution C A upstream_gene_variant MELA-AU 12 95947336 95947336 single base substitution G A upstream_gene_variant MELA-AU 12 95947942 95947942 single base substitution C T upstream_gene_variant MELA-AU 12 95948068 95948068 single base substitution G A upstream_gene_variant MELA-AU 12 95948329 95948329 single base substitution C T upstream_gene_variant MELA-AU 12 95948401 95948401 single base substitution G A upstream_gene_variant MELA-AU 12 95948442 95948442 single base substitution G A upstream_gene_variant MELA-AU 12 95948659 95948659 single base substitution G A upstream_gene_variant MELA-AU 12 95948690 95948690 single base substitution G A upstream_gene_variant MELA-AU 12 95949384 95949384 single base substitution G A upstream_gene_variant MELA-AU 12 95949385 95949385 single base substitution G A upstream_gene_variant MELA-AU 12 95949575 95949575 single base substitution G A upstream_gene_variant MELA-AU 12 95949826 95949826 single base substitution A T upstream_gene_variant ORCA-IN 12 95927960 95927960 single base substitution G C missense_variant Q25E 73C>G ORCA-IN 12 95944604 95944604 single base substitution G C intron_variant ORCA-IN 12 95944604 95944604 single base substitution G C upstream_gene_variant ORCA-IN 12 95949464 95949464 insertion of <=200bp - A upstream_gene_variant OV-AU 12 95912274 95912274 single base substitution G T intron_variant OV-AU 12 95914990 95914990 single base substitution C A downstream_gene_variant OV-AU 12 95914990 95914990 single base substitution C A intron_variant OV-AU 12 95921423 95921423 single base substitution G T intron_variant OV-AU 12 95926399 95926399 single base substitution C A downstream_gene_variant OV-AU 12 95926399 95926399 single base substitution C A intron_variant OV-AU 12 95926399 95926399 single base substitution C A upstream_gene_variant OV-AU 12 95931961 95931961 single base substitution G C intron_variant OV-AU 12 95931961 95931961 single base substitution G C upstream_gene_variant OV-AU 12 95934658 95934658 single base substitution A G intron_variant OV-AU 12 95941367 95941367 single base substitution T C intron_variant OV-AU 12 95943359 95943359 single base substitution C A intron_variant OV-AU 12 95943359 95943359 single base substitution C A upstream_gene_variant OV-AU 12 95948134 95948134 single base substitution C G upstream_gene_variant OV-AU 12 95949270 95949270 single base substitution G T upstream_gene_variant OV-AU 12 95950142 95950142 single base substitution T C upstream_gene_variant PACA-AU 12 95909538 95909538 single base substitution C T downstream_gene_variant PACA-AU 12 95918511 95918511 single base substitution G A exon_variant PACA-AU 12 95918511 95918511 single base substitution G A stop_gained Q560* 1678C>T PACA-AU 12 95918511 95918511 single base substitution G A synonymous_variant N494N 1482C>T PACA-AU 12 95919621 95919621 single base substitution G T intron_variant PACA-AU 12 95919895 95919895 single base substitution T G intron_variant PACA-AU 12 95937201 95937201 single base substitution A G downstream_gene_variant PACA-AU 12 95937201 95937201 single base substitution A G intron_variant PACA-AU 12 95940567 95940567 single base substitution C T exon_variant PACA-AU 12 95940567 95940567 single base substitution C T intron_variant PACA-AU 12 95942562 95942562 single base substitution C T 5_prime_UTR_variant PACA-AU 12 95942562 95942562 single base substitution C T intron_variant PACA-AU 12 95942562 95942562 single base substitution C T upstream_gene_variant PACA-AU 12 95947181 95947181 single base substitution A G upstream_gene_variant PACA-CA 12 95906358 95906358 single base substitution C T downstream_gene_variant PACA-CA 12 95909128 95909128 single base substitution G C downstream_gene_variant PACA-CA 12 95911468 95911468 single base substitution G A 3_prime_UTR_variant PACA-CA 12 95911468 95911468 single base substitution G A downstream_gene_variant PACA-CA 12 95912814 95912815 deletion of <=200bp TT - intron_variant PACA-CA 12 95914229 95914229 single base substitution C A downstream_gene_variant PACA-CA 12 95914229 95914229 single base substitution C A intron_variant PACA-CA 12 95916112 95916112 single base substitution G A downstream_gene_variant PACA-CA 12 95916112 95916112 single base substitution G A intron_variant PACA-CA 12 95919795 95919795 single base substitution C T intron_variant PACA-CA 12 95921970 95921970 single base substitution G A intron_variant PACA-CA 12 95922761 95922761 single base substitution A G downstream_gene_variant PACA-CA 12 95922761 95922761 single base substitution A G exon_variant PACA-CA 12 95922761 95922761 single base substitution A G intron_variant PACA-CA 12 95922761 95922761 single base substitution A G synonymous_variant C482C 1446T>C PACA-CA 12 95929873 95929873 single base substitution C A intron_variant PACA-CA 12 95929873 95929873 single base substitution C A upstream_gene_variant PACA-CA 12 95931220 95931220 single base substitution G A intron_variant PACA-CA 12 95931220 95931220 single base substitution G A upstream_gene_variant PACA-CA 12 95936796 95936796 single base substitution G A downstream_gene_variant PACA-CA 12 95936796 95936796 single base substitution G A intron_variant PACA-CA 12 95936892 95936892 single base substitution T C downstream_gene_variant PACA-CA 12 95936892 95936892 single base substitution T C intron_variant PACA-CA 12 95937199 95937199 single base substitution A G downstream_gene_variant PACA-CA 12 95937199 95937199 single base substitution A G intron_variant PACA-CA 12 95940056 95940056 single base substitution C G downstream_gene_variant PACA-CA 12 95940056 95940056 single base substitution C G intron_variant PACA-CA 12 95940195 95940195 single base substitution C T downstream_gene_variant PACA-CA 12 95940195 95940195 single base substitution C T intron_variant PACA-CA 12 95942819 95942819 single base substitution G A intron_variant PACA-CA 12 95942819 95942819 single base substitution G A upstream_gene_variant PAEN-AU 12 95913932 95913932 single base substitution T G downstream_gene_variant PAEN-AU 12 95913932 95913932 single base substitution T G intron_variant PAEN-IT 12 95923292 95923292 single base substitution T C downstream_gene_variant PAEN-IT 12 95923292 95923292 single base substitution T C intron_variant PAEN-IT 12 95923292 95923292 single base substitution T C upstream_gene_variant PAEN-IT 12 95939932 95939932 single base substitution C A downstream_gene_variant PAEN-IT 12 95939932 95939932 single base substitution C A intron_variant PBCA-DE 12 95909174 95909174 single base substitution C T downstream_gene_variant PBCA-DE 12 95911779 95911779 single base substitution T G 3_prime_UTR_variant PBCA-DE 12 95911779 95911779 single base substitution T G downstream_gene_variant PBCA-DE 12 95919247 95919247 insertion of <=200bp - AGCTGT intron_variant PBCA-DE 12 95930066 95930066 single base substitution G A intron_variant PBCA-DE 12 95930066 95930066 single base substitution G A upstream_gene_variant PBCA-DE 12 95941335 95941335 single base substitution C T intron_variant PBCA-DE 12 95943550 95943550 single base substitution C G intron_variant PBCA-DE 12 95943550 95943550 single base substitution C G upstream_gene_variant PBCA-DE 12 95946591 95946591 single base substitution G A upstream_gene_variant PBCA-DE 12 95947420 95947420 single base substitution T G upstream_gene_variant PBCA-DE 12 95947537 95947538 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 12 95949989 95949989 deletion of <=200bp A - upstream_gene_variant PRAD-CA 12 95912225 95912225 single base substitution T A intron_variant PRAD-CA 12 95919280 95919280 single base substitution G C intron_variant PRAD-CA 12 95929363 95929363 single base substitution G A intron_variant PRAD-CA 12 95929363 95929363 single base substitution G A upstream_gene_variant PRAD-CA 12 95933412 95933412 single base substitution A G intron_variant PRAD-CA 12 95936469 95936469 single base substitution C T downstream_gene_variant PRAD-CA 12 95936469 95936469 single base substitution C T intron_variant PRAD-CA 12 95947048 95947048 single base substitution G A upstream_gene_variant PRAD-UK 12 95924070 95924070 insertion of <=200bp - A downstream_gene_variant PRAD-UK 12 95924070 95924070 insertion of <=200bp - A intron_variant PRAD-UK 12 95924070 95924070 insertion of <=200bp - A upstream_gene_variant PRAD-UK 12 95924078 95924078 insertion of <=200bp - A downstream_gene_variant PRAD-UK 12 95924078 95924078 insertion of <=200bp - A intron_variant PRAD-UK 12 95924078 95924078 insertion of <=200bp - A upstream_gene_variant PRAD-UK 12 95925775 95925775 single base substitution T C downstream_gene_variant PRAD-UK 12 95925775 95925775 single base substitution T C intron_variant PRAD-UK 12 95925775 95925775 single base substitution T C upstream_gene_variant PRAD-UK 12 95926409 95926409 single base substitution T C downstream_gene_variant PRAD-UK 12 95926409 95926409 single base substitution T C intron_variant PRAD-UK 12 95926409 95926409 single base substitution T C upstream_gene_variant PRAD-UK 12 95937524 95937524 single base substitution C T downstream_gene_variant PRAD-UK 12 95937524 95937524 single base substitution C T intron_variant PRAD-UK 12 95939592 95939592 single base substitution C T downstream_gene_variant PRAD-UK 12 95939592 95939592 single base substitution C T intron_variant READ-US 12 95927171 95927171 single base substitution G T downstream_gene_variant READ-US 12 95927171 95927171 single base substitution G T missense_variant L288I 862C>A READ-US 12 95927171 95927171 single base substitution G T upstream_gene_variant READ-US 12 95927451 95927451 single base substitution C T downstream_gene_variant READ-US 12 95927451 95927451 single base substitution C T synonymous_variant R194R 582G>A READ-US 12 95927451 95927451 single base substitution C T upstream_gene_variant READ-US 12 95927460 95927460 single base substitution C A downstream_gene_variant READ-US 12 95927460 95927460 single base substitution C A missense_variant K191N 573G>T READ-US 12 95927460 95927460 single base substitution C A upstream_gene_variant READ-US 12 95927550 95927550 single base substitution G T downstream_gene_variant READ-US 12 95927550 95927550 single base substitution G T synonymous_variant I161I 483C>A READ-US 12 95927550 95927550 single base substitution G T upstream_gene_variant RECA-EU 12 95913209 95913209 single base substitution T C intron_variant RECA-EU 12 95918293 95918293 single base substitution C A downstream_gene_variant RECA-EU 12 95918293 95918293 single base substitution C A intron_variant RECA-EU 12 95921615 95921615 single base substitution T C intron_variant RECA-EU 12 95927767 95927767 single base substitution T G missense_variant D89A 266A>C RECA-EU 12 95927767 95927767 single base substitution T G upstream_gene_variant RECA-EU 12 95930418 95930418 single base substitution C G intron_variant RECA-EU 12 95930418 95930418 single base substitution C G upstream_gene_variant RECA-EU 12 95934704 95934704 single base substitution A C intron_variant RECA-EU 12 95943057 95943057 single base substitution G A intron_variant RECA-EU 12 95943057 95943057 single base substitution G A upstream_gene_variant RECA-EU 12 95945664 95945664 single base substitution C G upstream_gene_variant RECA-EU 12 95946160 95946160 single base substitution A C upstream_gene_variant SKCA-BR 12 95905653 95905653 single base substitution C T downstream_gene_variant SKCA-BR 12 95906996 95906996 single base substitution T C downstream_gene_variant SKCA-BR 12 95909625 95909625 single base substitution T A downstream_gene_variant SKCA-BR 12 95911112 95911112 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 95911112 95911112 single base substitution C T downstream_gene_variant SKCA-BR 12 95911265 95911266 deletion of <=200bp AT - 3_prime_UTR_variant SKCA-BR 12 95911265 95911266 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 12 95913562 95913562 single base substitution A T downstream_gene_variant SKCA-BR 12 95913562 95913562 single base substitution A T intron_variant SKCA-BR 12 95913867 95913867 single base substitution C T downstream_gene_variant SKCA-BR 12 95913867 95913867 single base substitution C T intron_variant SKCA-BR 12 95914195 95914195 single base substitution G A downstream_gene_variant SKCA-BR 12 95914195 95914195 single base substitution G A intron_variant SKCA-BR 12 95915259 95915259 single base substitution G A downstream_gene_variant SKCA-BR 12 95915259 95915259 single base substitution G A intron_variant SKCA-BR 12 95917947 95917947 single base substitution C T downstream_gene_variant SKCA-BR 12 95917947 95917947 single base substitution C T intron_variant SKCA-BR 12 95918168 95918168 single base substitution G A downstream_gene_variant SKCA-BR 12 95918168 95918168 single base substitution G A intron_variant SKCA-BR 12 95919370 95919370 single base substitution C T intron_variant SKCA-BR 12 95921614 95921614 insertion of <=200bp - TC intron_variant SKCA-BR 12 95921615 95921615 single base substitution T C intron_variant SKCA-BR 12 95921616 95921616 single base substitution T C intron_variant SKCA-BR 12 95924422 95924438 deletion of <=200bp TATAGATAGATAGATAG - downstream_gene_variant SKCA-BR 12 95924422 95924438 deletion of <=200bp TATAGATAGATAGATAG - intron_variant SKCA-BR 12 95924422 95924438 deletion of <=200bp TATAGATAGATAGATAG - upstream_gene_variant SKCA-BR 12 95925776 95925776 single base substitution C T downstream_gene_variant SKCA-BR 12 95925776 95925776 single base substitution C T intron_variant SKCA-BR 12 95925776 95925776 single base substitution C T upstream_gene_variant SKCA-BR 12 95928654 95928654 single base substitution G T intron_variant SKCA-BR 12 95928654 95928654 single base substitution G T upstream_gene_variant SKCA-BR 12 95928700 95928700 single base substitution A C intron_variant SKCA-BR 12 95928700 95928700 single base substitution A C upstream_gene_variant SKCA-BR 12 95928975 95928975 single base substitution G A intron_variant SKCA-BR 12 95928975 95928975 single base substitution G A upstream_gene_variant SKCA-BR 12 95929812 95929815 deletion of <=200bp TTCC - intron_variant SKCA-BR 12 95929812 95929815 deletion of <=200bp TTCC - upstream_gene_variant SKCA-BR 12 95931119 95931119 single base substitution G A intron_variant SKCA-BR 12 95931119 95931119 single base substitution G A upstream_gene_variant SKCA-BR 12 95931523 95931523 single base substitution G A intron_variant SKCA-BR 12 95931523 95931523 single base substitution G A upstream_gene_variant SKCA-BR 12 95931864 95931864 single base substitution G A intron_variant SKCA-BR 12 95931864 95931864 single base substitution G A upstream_gene_variant SKCA-BR 12 95933608 95933608 single base substitution G A intron_variant SKCA-BR 12 95934054 95934054 single base substitution A T intron_variant SKCA-BR 12 95936302 95936302 single base substitution G A downstream_gene_variant SKCA-BR 12 95936302 95936302 single base substitution G A intron_variant SKCA-BR 12 95937205 95937205 single base substitution G A downstream_gene_variant SKCA-BR 12 95937205 95937205 single base substitution G A intron_variant SKCA-BR 12 95937991 95937991 single base substitution C T downstream_gene_variant SKCA-BR 12 95937991 95937991 single base substitution C T intron_variant SKCA-BR 12 95938348 95938348 single base substitution C T downstream_gene_variant SKCA-BR 12 95938348 95938348 single base substitution C T intron_variant SKCA-BR 12 95938504 95938504 single base substitution G A downstream_gene_variant SKCA-BR 12 95938504 95938504 single base substitution G A intron_variant SKCA-BR 12 95938514 95938514 single base substitution G A downstream_gene_variant SKCA-BR 12 95938514 95938514 single base substitution G A intron_variant SKCA-BR 12 95938582 95938582 single base substitution T C downstream_gene_variant SKCA-BR 12 95938582 95938582 single base substitution T C intron_variant SKCA-BR 12 95939276 95939276 single base substitution G A downstream_gene_variant SKCA-BR 12 95939276 95939276 single base substitution G A intron_variant SKCA-BR 12 95942667 95942667 single base substitution T C intron_variant SKCA-BR 12 95942667 95942667 single base substitution T C upstream_gene_variant SKCA-BR 12 95942679 95942679 single base substitution A C intron_variant SKCA-BR 12 95942679 95942679 single base substitution A C upstream_gene_variant SKCA-BR 12 95942711 95942711 single base substitution A C intron_variant SKCA-BR 12 95942711 95942711 single base substitution A C upstream_gene_variant SKCA-BR 12 95943959 95943961 deletion of <=200bp GAA - intron_variant SKCA-BR 12 95943959 95943961 deletion of <=200bp GAA - upstream_gene_variant SKCA-BR 12 95945514 95945514 single base substitution A G upstream_gene_variant SKCA-BR 12 95946215 95946215 single base substitution C T upstream_gene_variant SKCA-BR 12 95946756 95946756 single base substitution C T upstream_gene_variant SKCA-BR 12 95948732 95948732 single base substitution C G upstream_gene_variant SKCA-BR 12 95949457 95949458 deletion of <=200bp AG - upstream_gene_variant SKCM-US 12 95907507 95907507 single base substitution C T downstream_gene_variant SKCM-US 12 95914825 95914825 single base substitution C T downstream_gene_variant SKCM-US 12 95914825 95914825 single base substitution C T intron_variant SKCM-US 12 95914825 95914825 single base substitution C T synonymous_variant G629G 1887G>A SKCM-US 12 95914826 95914826 single base substitution C T downstream_gene_variant SKCM-US 12 95914826 95914826 single base substitution C T intron_variant SKCM-US 12 95914826 95914826 single base substitution C T missense_variant G629E 1886G>A SKCM-US 12 95914926 95914926 single base substitution C T downstream_gene_variant SKCM-US 12 95914926 95914926 single base substitution C T intron_variant SKCM-US 12 95914926 95914926 single base substitution C T missense_variant E596K 1786G>A SKCM-US 12 95918458 95918458 single base substitution G A exon_variant SKCM-US 12 95918458 95918458 single base substitution G A splice_region_variant SKCM-US 12 95926668 95926668 single base substitution C T downstream_gene_variant SKCM-US 12 95926668 95926668 single base substitution C T synonymous_variant R455R 1365G>A SKCM-US 12 95926668 95926668 single base substitution C T upstream_gene_variant SKCM-US 12 95926868 95926868 single base substitution A G downstream_gene_variant SKCM-US 12 95926868 95926868 single base substitution A G missense_variant F389L 1165T>C SKCM-US 12 95926868 95926868 single base substitution A G upstream_gene_variant SKCM-US 12 95926931 95926931 single base substitution G C downstream_gene_variant SKCM-US 12 95926931 95926931 single base substitution G C missense_variant L368V 1102C>G SKCM-US 12 95926931 95926931 single base substitution G C upstream_gene_variant SKCM-US 12 95927181 95927181 single base substitution C T downstream_gene_variant SKCM-US 12 95927181 95927181 single base substitution C T missense_variant M284I 852G>A SKCM-US 12 95927181 95927181 single base substitution C T upstream_gene_variant SKCM-US 12 95927253 95927253 single base substitution G A downstream_gene_variant SKCM-US 12 95927253 95927253 single base substitution G A synonymous_variant S260S 780C>T SKCM-US 12 95927253 95927253 single base substitution G A upstream_gene_variant SKCM-US 12 95927254 95927254 single base substitution G A downstream_gene_variant SKCM-US 12 95927254 95927254 single base substitution G A missense_variant S260F 779C>T SKCM-US 12 95927254 95927254 single base substitution G A upstream_gene_variant SKCM-US 12 95927347 95927347 single base substitution G A downstream_gene_variant SKCM-US 12 95927347 95927347 single base substitution G A missense_variant S229F 686C>T SKCM-US 12 95927347 95927347 single base substitution G A upstream_gene_variant SKCM-US 12 95927357 95927357 single base substitution C T downstream_gene_variant SKCM-US 12 95927357 95927357 single base substitution C T missense_variant E226K 676G>A SKCM-US 12 95927357 95927357 single base substitution C T upstream_gene_variant SKCM-US 12 95927372 95927372 single base substitution G A downstream_gene_variant SKCM-US 12 95927372 95927372 single base substitution G A stop_gained Q221* 661C>T SKCM-US 12 95927372 95927372 single base substitution G A upstream_gene_variant SKCM-US 12 95927690 95927690 single base substitution G A downstream_gene_variant SKCM-US 12 95927690 95927690 single base substitution G A missense_variant R115C 343C>T SKCM-US 12 95927690 95927690 single base substitution G A upstream_gene_variant SKCM-US 12 95927909 95927909 single base substitution G A missense_variant L42F 124C>T SKCM-US 12 95928001 95928001 single base substitution C T missense_variant G11E 32G>A STAD-US 12 95906667 95906667 single base substitution T G downstream_gene_variant STAD-US 12 95918558 95918558 single base substitution C T exon_variant STAD-US 12 95918558 95918558 single base substitution C T missense_variant R544H 1631G>A STAD-US 12 95918558 95918558 single base substitution C T missense_variant V479I 1435G>A STAD-US 12 95926835 95926835 single base substitution C A downstream_gene_variant STAD-US 12 95926835 95926835 single base substitution C A missense_variant V400F 1198G>T STAD-US 12 95926835 95926835 single base substitution C A upstream_gene_variant STAD-US 12 95926869 95926869 single base substitution C T downstream_gene_variant STAD-US 12 95926869 95926869 single base substitution C T synonymous_variant L388L 1164G>A STAD-US 12 95926869 95926869 single base substitution C T upstream_gene_variant STAD-US 12 95927128 95927128 deletion of <=200bp A - downstream_gene_variant STAD-US 12 95927128 95927128 deletion of <=200bp A - frameshift_variant L302 STAD-US 12 95927128 95927128 deletion of <=200bp A - upstream_gene_variant STAD-US 12 95927368 95927368 single base substitution G A downstream_gene_variant STAD-US 12 95927368 95927368 single base substitution G A missense_variant S222L 665C>T STAD-US 12 95927368 95927368 single base substitution G A upstream_gene_variant STAD-US 12 95927656 95927656 single base substitution C T downstream_gene_variant STAD-US 12 95927656 95927656 single base substitution C T missense_variant G126D 377G>A STAD-US 12 95927656 95927656 single base substitution C T upstream_gene_variant STAD-US 12 95927734 95927734 single base substitution C T missense_variant R100H 299G>A STAD-US 12 95927734 95927734 single base substitution C T upstream_gene_variant STAD-US 12 95927797 95927797 insertion of <=200bp - A frameshift_variant C79C? STAD-US 12 95927798 95927798 insertion of <=200bp - A frameshift_variant C79L? UCEC-US 12 95905696 95905696 single base substitution A G downstream_gene_variant UCEC-US 12 95906632 95906632 single base substitution A G downstream_gene_variant UCEC-US 12 95906658 95906658 single base substitution A G downstream_gene_variant UCEC-US 12 95911951 95911951 deletion of <=200bp C - 3_prime_UTR_variant UCEC-US 12 95911951 95911951 deletion of <=200bp C - frameshift_variant S706 UCEC-US 12 95911962 95911962 single base substitution C T 3_prime_UTR_variant UCEC-US 12 95911962 95911962 single base substitution C T missense_variant A703T 2107G>A UCEC-US 12 95912036 95912036 single base substitution C T 3_prime_UTR_variant UCEC-US 12 95912036 95912036 single base substitution C T missense_variant R678Q 2033G>A UCEC-US 12 95922631 95922631 single base substitution C A downstream_gene_variant UCEC-US 12 95922631 95922631 single base substitution C A exon_variant UCEC-US 12 95922631 95922631 single base substitution C A intron_variant UCEC-US 12 95922631 95922631 single base substitution C A stop_gained E526* 1576G>T UCEC-US 12 95922739 95922739 single base substitution C A downstream_gene_variant UCEC-US 12 95922739 95922739 single base substitution C A exon_variant UCEC-US 12 95922739 95922739 single base substitution C A intron_variant UCEC-US 12 95922739 95922739 single base substitution C A stop_gained E490* 1468G>T UCEC-US 12 95926990 95926990 single base substitution C A downstream_gene_variant UCEC-US 12 95926990 95926990 single base substitution C A missense_variant R348I 1043G>T UCEC-US 12 95926990 95926990 single base substitution C A upstream_gene_variant UCEC-US 12 95927036 95927036 single base substitution G A downstream_gene_variant UCEC-US 12 95927036 95927036 single base substitution G A stop_gained Q333* 997C>T UCEC-US 12 95927036 95927036 single base substitution G A upstream_gene_variant UCEC-US 12 95927102 95927102 single base substitution C T downstream_gene_variant UCEC-US 12 95927102 95927102 single base substitution C T missense_variant A311T 931G>A UCEC-US 12 95927102 95927102 single base substitution C T upstream_gene_variant UCEC-US 12 95927124 95927124 single base substitution C A downstream_gene_variant UCEC-US 12 95927124 95927124 single base substitution C A missense_variant K303N 909G>T UCEC-US 12 95927124 95927124 single base substitution C A upstream_gene_variant UCEC-US 12 95927233 95927233 single base substitution A G downstream_gene_variant UCEC-US 12 95927233 95927233 single base substitution A G missense_variant I267T 800T>C UCEC-US 12 95927233 95927233 single base substitution A G upstream_gene_variant UCEC-US 12 95927367 95927367 single base substitution C T downstream_gene_variant UCEC-US 12 95927367 95927367 single base substitution C T synonymous_variant S222S 666G>A UCEC-US 12 95927367 95927367 single base substitution C T upstream_gene_variant UCEC-US 12 95927554 95927554 single base substitution T G downstream_gene_variant UCEC-US 12 95927554 95927554 single base substitution T G missense_variant K160T 479A>C UCEC-US 12 95927554 95927554 single base substitution T G upstream_gene_variant UCEC-US 12 95927584 95927584 single base substitution A C downstream_gene_variant UCEC-US 12 95927584 95927584 single base substitution A C missense_variant L150R 449T>G UCEC-US 12 95927584 95927584 single base substitution A C upstream_gene_variant UCEC-US 12 95927652 95927652 single base substitution A G downstream_gene_variant UCEC-US 12 95927652 95927652 single base substitution A G synonymous_variant D127D 381T>C UCEC-US 12 95927652 95927652 single base substitution A G upstream_gene_variant UCEC-US 12 95927822 95927822 single base substitution C T missense_variant E71K 211G>A UCEC-US 12 95927846 95927846 single base substitution C A stop_gained E63* 187G>T UCEC-US 12 95927893 95927893 single base substitution A G missense_variant V47A 140T>C UCEC-US 12 95927919 95927919 single base substitution A G synonymous_variant I38I 114T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DM-A1DA-01 COSM1364974 c.1819G>A p.E607K Substitution - Missense 12:95521117-95521117 - TCGA-EE-A2MJ-06 COSM3466603 c.686C>T p.S229F Substitution - Missense 12:95533571-95533571 - T2197 COSM4739862 c.524delA p.K175fs*10 Deletion - Frameshift 12:95533733-95533733 - TCGA-AA-A00N-01 COSM278047 c.488G>A p.R163Q Substitution - Missense 12:95533769-95533769 - TCGA-EB-A41A-01 COSM3466607 c.124C>T p.L42F Substitution - Missense 12:95534133-95534133 - TCGA-DB-A4XD-01 COSM3968502 c.1310G>A p.R437H Substitution - Missense 12:95532947-95532947 - TCGA-AP-A051-01 COSM944673 c.1043G>T p.R348I Substitution - Missense 12:95533214-95533214 - CSCC-11-T COSM4551961 c.544G>A p.E182K Substitution - Missense 12:95533713-95533713 - B78 COSM1747304 c.1554T>A p.T518T Substitution - coding silent 12:95528877-95528877 - TCGA-AP-A0LP-01 COSM944678 c.773G>A p.S258N Substitution - Missense 12:95533484-95533484 - TCGA-B5-A0JY-01 COSM944672 c.1468G>T p.E490* Substitution - Nonsense 12:95528963-95528963 - TCGA-HU-8604-01 COSM4045507 c.377G>A p.G126D Substitution - Missense 12:95533880-95533880 - HCC78T COSM1606772 c.2062T>G p.L688V Substitution - Missense 12:95518231-95518231 - T578 COSM4739861 c.547A>G p.K183E Substitution - Missense 12:95533710-95533710 - YUGURT COSM5376226 c.1288G>A p.E430K Substitution - Missense 12:95532969-95532969 - CHC433T COSM3667231 c.1122A>T p.P374P Substitution - coding silent 12:95533135-95533135 - TCGA-FU-A40J-01 COSM4843973 c.2011T>C p.Y671H Substitution - Missense 12:95518282-95518282 - SC_9008 COSM5573976 c.892_893insT p.R298fs*8 Insertion - Frameshift 12:95533364-95533365 - TCGA-EE-A2MR-06 COSM3466604 c.676G>A p.E226K Substitution - Missense 12:95533581-95533581 - CSCC-29-T COSM4452568 c.1968A>T p.K656N Substitution - Missense 12:95518325-95518325 - LUAD-VUMN6 COSM347838 c.1619G>T p.C540F Substitution - Missense 12:95528812-95528812 - TCGA-FW-A3R5-06 COSM3872736 c.779C>T p.S260F Substitution - Missense 12:95533478-95533478 - SC_9104 COSM4601472 c.542A>G p.Q181R Substitution - Missense 12:95533715-95533715 - HCC5 COSM3704469 c.1625-9A>T p.? Unknown 12:95524797-95524797 - SW1417 COSM2046335 c.1726C>T p.R576* Substitution - Nonsense 12:95524687-95524687 - T3058 COSM4739859 c.2117C>T p.S706L Substitution - Missense 12:95518176-95518176 - HN_00313 COSM130125 c.191G>C p.S64T Substitution - Missense 12:95534066-95534066 - EGC15 COSM5052004 c.1764T>C p.I588I Substitution - coding silent 12:95521172-95521172 - PT42 COSM5925735 c.365C>T p.S122F Substitution - Missense 12:95533892-95533892 - TCGA-CJ-4900-01 COSM1493060 c.2095C>G p.P699A Substitution - Missense 12:95518198-95518198 - 1_PRE-TREATMENT COSM1720953 c.1595G>A p.G532E Substitution - Missense 12:95528836-95528836 - RK221_C01 COSM4945523 c.826A>C p.R276R Substitution - coding silent 12:95533431-95533431 - 522_T COSM3955319 c.443C>A p.T148N Substitution - Missense 12:95533814-95533814 - TCGA-CG-5721-01 COSM4045506 c.665C>T p.S222L Substitution - Missense 12:95533592-95533592 - TCGA-AP-A0LM-01 COSM944679 c.666G>A p.S222S Substitution - coding silent 12:95533591-95533591 - HCT-15 COSM1677254 c.1691G>A p.C564Y Substitution - Missense 12:95524722-95524722 - TCGA-EI-6882-01 COSM3417291 c.582G>A p.R194R Substitution - coding silent 12:95533675-95533675 - PT14_1 COSM5897052 c.1364G>A p.R455K Substitution - Missense 12:95532893-95532893 - 103862 COSM96271 c.582G>T p.R194R Substitution - coding silent 12:95533675-95533675 - PT08_1 COSM5893711 c.49C>T p.Q17* Substitution - Nonsense 12:95534208-95534208 - TCGA-D3-A3BZ-06 COSM3466600 c.1102C>G p.L368V Substitution - Missense 12:95533155-95533155 - TCGA-AA-3713-01 COSM1364973 c.2060T>C p.L687P Substitution - Missense 12:95518233-95518233 - TCGA-D3-A51E-06 COSM3466599 c.1165T>C p.F389L Substitution - Missense 12:95533092-95533092 - NCI-H2126 COSM24325 c.956G>T p.R319I Substitution - Missense 12:95533301-95533301 - HCC2998 COSM2046337 c.1676A>G p.K559R Substitution - Missense 12:95524737-95524737 - TCGA-D3-A2JG-06 COSM3466596 c.1786G>A p.E596K Substitution - Missense 12:95521150-95521150 - ESCC-205T COSM3936215 c.191G>T p.S64I Substitution - Missense 12:95534066-95534066 - KM12 COSM1677256 c.355T>G p.F119V Substitution - Missense 12:95533902-95533902 - 1_RESISTANT COSM1720953 c.1595G>A p.G532E Substitution - Missense 12:95528836-95528836 - WSU-HN13 COSM4601472 c.542A>G p.Q181R Substitution - Missense 12:95533715-95533715 - HCC2998 COSM1677255 c.790C>T p.R264* Substitution - Nonsense 12:95533467-95533467 - TCGA-BR-8361-01 COSM4045505 c.1164G>A p.L388L Substitution - coding silent 12:95533093-95533093 - S02242 COSM5677112 c.666G>C p.S222S Substitution - coding silent 12:95533591-95533591 - TCGA-HT-A618-01 COSM4420629 c.1753C>T p.R585* Substitution - Nonsense 12:95521183-95521183 - DLD1 COSM1677254 c.1691G>A p.C564Y Substitution - Missense 12:95524722-95524722 - TCGA-BG-A0MQ-01 COSM944683 c.381T>C p.D127D Substitution - coding silent 12:95533876-95533876 - ME044T COSM229240 c.1643C>T p.S548F Substitution - Missense 12:95524770-95524770 - OSCC-GB_00980111 COSM4882028 c.73C>G p.Q25E Substitution - Missense 12:95534184-95534184 - CHC892T COSM4795032 c.1428+1G>A p.? Unknown 12:95532828-95532828 - CLL032 COSM1289869 c.1685T>C p.M562T Substitution - Missense 12:95524728-95524728 - PD11360a COSM5776266 c.1745G>A p.R582H Substitution - Missense 12:95521191-95521191 - C0017T COSM4422492 c.266A>C p.D89A Substitution - Missense 12:95533991-95533991 - TCGA-A2-A4S0-01 COSM3813241 c.1350C>A p.I450I Substitution - coding silent 12:95532907-95532907 - SW620 COSM2046359 c.629C>T p.P210L Substitution - Missense 12:95533628-95533628 - DLD1 COSM4622755 c.1334G>A p.S445N Substitution - Missense 12:95532923-95532923 - 6115227 COSM5558227 c.1966A>G p.K656E Substitution - Missense 12:95518327-95518327 - PD4944a COSM3719348 c.1774G>A p.V592I Substitution - Missense 12:95521162-95521162 - TCGA-BT-A3PK-01 COSM3793049 c.1327G>A p.G443S Substitution - Missense 12:95532930-95532930 - TCGA-EE-A2A2-06 COSM3466595 c.1886G>A p.G629E Substitution - Missense 12:95521050-95521050 - ATL058 COSM5704626 c.761C>A p.S254Y Substitution - Missense 12:95533496-95533496 - 530 COSM3724116 c.1643C>A p.S548Y Substitution - Missense 12:95524770-95524770 - TCGA-G4-6588-01 COSM1364977 c.917T>C p.L306P Substitution - Missense 12:95533340-95533340 - YUKAT COSM229240 c.1643C>T p.S548F Substitution - Missense 12:95524770-95524770 - TCGA-EE-A2GC-06 COSM3466594 c.1887G>A p.G629G Substitution - coding silent 12:95521049-95521049 - TCGA-D1-A103-01 COSM944676 c.909G>T p.K303N Substitution - Missense 12:95533348-95533348 - TCGA-AP-A0LM-01 COSM944682 c.449T>G p.L150R Substitution - Missense 12:95533808-95533808 - TCGA-25-2392-01 COSM111655 c.1982_1999del18 p.T661_C666delTMDEVC Deletion - In frame 12:95518294-95518311 - PD11760a COSM5798511 c.156T>C p.Y52Y Substitution - coding silent 12:95534101-95534101 - HDC54 COSM4636284 c.994T>C p.Y332H Substitution - Missense 12:95533263-95533263 - CHC433T COSM3667231 c.1122A>T p.P374P Substitution - coding silent 12:95533135-95533135 - T578 COSM24325 c.956G>T p.R319I Substitution - Missense 12:95533301-95533301 - Pat_34_A COSM5361363 c.1754G>A p.R585Q Substitution - Missense 12:95521182-95521182 - TCGA-D3-A1Q6-06 COSM3466598 c.1365G>A p.R455R Substitution - coding silent 12:95532892-95532892 - KM12 COSM1677256 c.355T>G p.F119V Substitution - Missense 12:95533902-95533902 - CN-AML-08-T COSM147578 c.1804C>T p.P602S Substitution - Missense 12:95521132-95521132 - TCGA-IH-A3EA-01 COSM3466606 c.343C>T p.R115C Substitution - Missense 12:95533914-95533914 - TCGA-AA-A00W-01 COSM299017 c.957A>G p.R319R Substitution - coding silent 12:95533300-95533300 - cSCCP4 COSM138893 c.1699C>T p.P567S Substitution - Missense 12:95524714-95524714 - LAU108 COSM235552 c.1821G>A p.E607E Substitution - coding silent 12:95521115-95521115 - HCC5T COSM3704469 c.1625-9A>T p.? Unknown 12:95524797-95524797 - S00932 COSM316417 c.1349T>C p.I450T Substitution - Missense 12:95532908-95532908 - AML6 COSM166874 c.1161T>C p.T387T Substitution - coding silent 12:95533096-95533096 - TCGA-BG-A0VX-01 COSM944685 c.187G>T p.E63* Substitution - Nonsense 12:95534070-95534070 - PD4127a COSM165448 c.265G>A p.D89N Substitution - Missense 12:95533992-95533992 - TCGA-CG-5733-01 COSM4045508 c.299G>A p.R100H Substitution - Missense 12:95533958-95533958 - sysucc-311T COSM5478415 c.1429-4G>A p.? Unknown 12:95529006-95529006 - TCGA-B5-A0K7-01 COSM944668 c.2118delG p.S707fs*>6 Deletion - Frameshift 12:95518175-95518175 - TCGA-AX-A05Z-01 COSM198632 c.1576G>T p.E526* Substitution - Nonsense 12:95528855-95528855 - GC8_T COSM147578 c.1804C>T p.P602S Substitution - Missense 12:95521132-95521132 - CSCC-31-T COSM4486994 c.312C>A p.A104A Substitution - coding silent 12:95533945-95533945 - TCGA-AP-A051-01 COSM944675 c.931G>A p.A311T Substitution - Missense 12:95533326-95533326 - TCGA-BS-A0UF-01 COSM944677 c.800T>C p.I267T Substitution - Missense 12:95533457-95533457 - 545 COSM2046346 c.1257C>T p.Y419Y Substitution - coding silent 12:95533000-95533000 - CSCC-54-T COSM4568446 c.1154T>C p.L385S Substitution - Missense 12:95533103-95533103 - BD173T COSM5500548 c.1725A>G p.K575K Substitution - coding silent 12:95524688-95524688 - CSCC-49-T COSM4552583 c.563G>A p.R188K Substitution - Missense 12:95533694-95533694 - TCGA-A5-A0G9-01 COSM944671 c.1808A>G p.Y603C Substitution - Missense 12:95521128-95521128 - TCGA-EE-A2MR-06 COSM3466597 c.1731C>T p.F577F Substitution - coding silent 12:95524682-95524682 - TCGA-B5-A11E-01 COSM944669 c.2107G>A p.A703T Substitution - Missense 12:95518186-95518186 - pfg043T COSM4759027 c.631A>T p.R211* Substitution - Nonsense 12:95533626-95533626 - TCGA-FP-8099-01 COSM2046347 c.1198G>T p.V400F Substitution - Missense 12:95533059-95533059 - 6 COSM4657576 c.945C>T p.S315S Substitution - coding silent 12:95533312-95533312 - TCGA-BR-8487-01 COSM4045504 c.1631G>A p.R544H Substitution - Missense 12:95524782-95524782 - Pat_11_A COSM5842061 c.1520G>A p.G507E Substitution - Missense 12:95528911-95528911 - YUKAT COSM5376227 c.441T>C p.Y147Y Substitution - coding silent 12:95533816-95533816 - TCGA-D1-A103-01 COSM944686 c.140T>C p.V47A Substitution - Missense 12:95534117-95534117 - CSCC-35-T COSM4514019 c.959C>T p.S320F Substitution - Missense 12:95533298-95533298 - TCGA-EI-6917-01 COSM3417292 c.573G>T p.K191N Substitution - Missense 12:95533684-95533684 - PD4874a COSM5787775 c.875G>A p.S292N Substitution - Missense 12:95533382-95533382 - YUQUEST COSM2046356 c.836G>A p.G279E Substitution - Missense 12:95533421-95533421 - TCGA-BT-A20T-01 COSM416453 c.1710C>G p.L570L Substitution - coding silent 12:95524703-95524703 - TCGA-F4-6461-01 COSM3688500 c.520A>T p.K174* Substitution - Nonsense 12:95533737-95533737 - SK-MEL-5 COSM229240 c.1643C>T p.S548F Substitution - Missense 12:95524770-95524770 - TCGA-EE-A2MD-06 COSM3466601 c.852G>A p.M284I Substitution - Missense 12:95533405-95533405 - TCGA-EE-A3AC-06 COSM3466605 c.661C>T p.Q221* Substitution - Nonsense 12:95533596-95533596 - sysucc-1370T COSM5470108 c.1964C>T p.S655F Substitution - Missense 12:95518329-95518329 - I2L-P10-Tumor-Organoid COSM5361363 c.1754G>A p.R585Q Substitution - Missense 12:95521182-95521182 - TCGA-B5-A11R-01 COSM944674 c.997C>T p.Q333* Substitution - Nonsense 12:95533260-95533260 - TCGA-D1-A0ZO-01 COSM944680 c.511A>G p.I171V Substitution - Missense 12:95533746-95533746 - RK048_C COSM1628941 c.768A>G p.K256K Substitution - coding silent 12:95533489-95533489 - TCGA-AA-3713-01 COSM1364975 c.1007_1010delAATG p.E336fs*20 Deletion - Frameshift 12:95533247-95533250 - TCGA-A3-3380-01 COSM1493059 c.557T>A p.V186E Substitution - Missense 12:95533700-95533700 - TCGA-D9-A1JW-06 COSM3466608 c.32G>A p.G11E Substitution - Missense 12:95534225-95534225 - 8044436 COSM3384690 c.1678C>T p.Q560* Substitution - Nonsense 12:95524735-95524735 - TCGA-AX-A0J0-01 COSM944687 c.114T>C p.I38I Substitution - coding silent 12:95534143-95534143 - YULAN COSM1706040 c.1796A>T p.N599I Substitution - Missense 12:95521140-95521140 - BCM735T COSM4790664 c.1134C>T p.Y378Y Substitution - coding silent 12:95533123-95533123 - TCGA-D9-A148-06 COSM3466602 c.780C>T p.S260S Substitution - coding silent 12:95533477-95533477 - TCGA-AA-3672-01 COSM267737 c.827G>A p.R276K Substitution - Missense 12:95533430-95533430 - TCGA-AA-3966-01 COSM273449 c.1235T>C p.L412P Substitution - Missense 12:95533022-95533022 - 9096_T COSM5040323 c.101C>T p.T34M Substitution - Missense 12:95534156-95534156 - TCGA-AB-3006-03 COSM166874 c.1161T>C p.T387T Substitution - coding silent 12:95533096-95533096 - HCC78 COSM1606772 c.2062T>G p.L688V Substitution - Missense 12:95518231-95518231 - B78-Tumor COSM1747304 c.1554T>A p.T518T Substitution - coding silent 12:95528877-95528877 - RK048_C01 COSM1628941 c.768A>G p.K256K Substitution - coding silent 12:95533489-95533489 - HCC2998 COSM1677255 c.790C>T p.R264* Substitution - Nonsense 12:95533467-95533467 - TCGA-D1-A103-01 COSM944684 c.211G>A p.E71K Substitution - Missense 12:95534046-95534046 - YUKADI COSM1706042 c.407C>T p.A136V Substitution - Missense 12:95533850-95533850 - YUSCA COSM5376225 c.1668A>G p.E556E Substitution - coding silent 12:95524745-95524745 - S00932 COSM316417 c.1349T>C p.I450T Substitution - Missense 12:95532908-95532908 - HN_00313 COSM130124 c.499G>C p.E167Q Substitution - Missense 12:95533758-95533758 - TCGA-AD-6889-01 COSM1364979 c.361C>T p.R121W Substitution - Missense 12:95533896-95533896 - T3064 COSM4739860 c.701C>T p.A234V Substitution - Missense 12:95533556-95533556 - TCGA-ES-A2HT-01 COSM4938819 c.1624+1G>A p.? Unknown 12:95528806-95528806 - PCSI_0090_Pa_P COSM3376409 c.1446T>C p.C482C Substitution - coding silent 12:95528985-95528985 - ESO-732 COSM1270095 c.702A>G p.A234A Substitution - coding silent 12:95533555-95533555 - 1353-01-01TD COSM5416651 c.580C>T p.R194W Substitution - Missense 12:95533677-95533677 - HT115 COSM2046343 c.1270G>A p.A424T Substitution - Missense 12:95532987-95532987 - TCGA-AA-A010-01 COSM286405 c.547A>C p.K183Q Substitution - Missense 12:95533710-95533710 - TCGA-AA-3510-01 COSM944679 c.666G>A p.S222S Substitution - coding silent 12:95533591-95533591 - TCGA-EI-6917-01 COSM3417293 c.483C>A p.I161I Substitution - coding silent 12:95533774-95533774 - BCM735T COSM4790664 c.1134C>T p.Y378Y Substitution - coding silent 12:95533123-95533123 - TCGA-BS-A0UF-01 COSM944670 c.2033G>A p.R678Q Substitution - Missense 12:95518260-95518260 - T578 COSM4739863 c.106G>A p.E36K Substitution - Missense 12:95534151-95534151 - T3498 COSM4739858 c.2137T>C p.*713R Nonstop extension 12:95518156-95518156 - ESO-874 COSM1270096 c.1063G>T p.G355* Substitution - Nonsense 12:95533194-95533194 - TCGA-CA-6718-01 COSM1364978 c.735A>G p.V245V Substitution - coding silent 12:95533522-95533522 - HCT15 COSM1677254 c.1691G>A p.C564Y Substitution - Missense 12:95524722-95524722 - PCSI_0090_Pa_X COSM3376409 c.1446T>C p.C482C Substitution - coding silent 12:95528985-95528985 - PT08_2 COSM5893711 c.49C>T p.Q17* Substitution - Nonsense 12:95534208-95534208 - GC8_T COSM147579 c.996T>C p.Y332Y Substitution - coding silent 12:95533261-95533261 - Pat_11_B COSM5842061 c.1520G>A p.G507E Substitution - Missense 12:95528911-95528911 - CHC892T COSM4795032 c.1428+1G>A p.? Unknown 12:95532828-95532828 - TCGA-AX-A05Z-01 COSM944681 c.479A>C p.K160T Substitution - Missense 12:95533778-95533778 - UM-SCC-2 COSM2046355 c.836delG p.G279fs*6 Deletion - Frameshift 12:95533421-95533421 - 06-P2007 COSM4575795 c.1164G>T p.L388F Substitution - Missense 12:95533093-95533093 - CN-AML-NR-08-Dx COSM147578 c.1804C>T p.P602S Substitution - Missense 12:95521132-95521132 - YUKLAB COSM1706041 c.1576G>A p.E526K Substitution - Missense 12:95528855-95528855 - HN_00313 COSM130123 c.676G>C p.E226Q Substitution - Missense 12:95533581-95533581 - MB106X COSM88040 c.1574C>G p.T525R Substitution - Missense 12:95528857-95528857 - TCGA-F5-6814-01 COSM3417290 c.862C>A p.L288I Substitution - Missense 12:95533395-95533395 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.646395;Hs.646397;Hs.646405;Hs.646412;Hs.646418;Hs.646419;Hs.646421 12q22 610993

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I450T c.1349T>C 12 95926684 SCLC A G Missense p.M562T c.1685T>C 12 95918504 CLL A G Synonymous p.D127D c.381T>C 12 95927652 UCEC A G Synonymous p.T387T c.1161T>C 12 95926872 AML C A Missense p.D84Y c.250G>T 12 95927783 LUAD C A Missense p.W39C c.117G>T 12 95927916 LUAD C A Nonsense p.E63* c.187G>T 12 95927846 UCEC C A Nonsense p.G355* c.1063G>T 12 95926970 ESCA C - Frameshift p.S707Lfs*10 c.2118delG 12 95911951 UCEC C G Missense p.E167Q c.499G>C 12 95927534 HNSC C G Missense p.E226Q c.676G>C 12 95927357 HNSC C G Missense p.S64T c.191G>C 12 95927842 HNSC C T Missense p.D89N c.265G>A 12 95927768 BRCA C T Missense p.E596K c.1786G>A 12 95914926 CM C T Missense p.G11E c.32G>A 12 95928001 CM C T Missense p.G172E c.515G>A 12 95927518 LUAD C T Missense p.G359R c.1075G>A 12 95926958 BRCA C T Missense p.G443S c.1327G>A 12 95926706 BLCA C T Missense p.G629E c.1886G>A 12 95914826 CM C T Missense p.M284I c.852G>A 12 95927181 CM C T Missense p.R100H c.299G>A 12 95927734 STAD C T Synonymous p.G629G c.1887G>A 12 95914825 CM C T Synonymous p.R455R c.1365G>A 12 95926668 CM G A IntronicSNV . c.1-2959C>T 12 95930991 CLL G A Missense p.R115C c.343C>T 12 95927690 CM G A Missense p.S229F c.686C>T 12 95927347 CM G A Nonsense p.Q221* c.661C>T 12 95927372 CM G A Nonsense p.Q255* c.763C>T 12 95927270 HNSC G A Nonsense p.Q333* c.997C>T 12 95927036 UCEC G A Synonymous p.N33N c.99C>T 12 95927934 CM G A Synonymous p.S260S c.780C>T 12 95927253 CM G C Missense p.L368V c.1102C>G 12 95926931 CM G C Synonymous p.L570L c.1710C>G 12 95918479 BLCA G T Synonymous p.R585R c.1753C>A 12 95914959 CM T A Synonymous p.T441T c.1323A>T 12 95926710 COREAD T C Missense p.R578G c.1732A>G 12 95918457 COREAD T C Missense p.Y332C c.995A>G 12 95927038 CM T C Synonymous p.A234A c.702A>G 12 95927331 ESCA T C Synonymous p.E167E c.501A>G 12 95927532 LUAD T C Synonymous p.K256K c.768A>G 12 95927265 HC T C Synonymous p.R319R c.957A>G 12 95927076 COREAD TGCATACTTCATCCATAG - InFrameDeletion p.T661_C666delTMDEVC c.1982_1999delCTATGGATGAAGTATGCA 12 95912070 OV T G Missense p.K587T c.1760A>C 12 95914952 LUAD