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 2 37096725 37096725 + Missense_Mutation SNP T T A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:37096725T>A c.1471A>T c.(1471-1473)Aat>Tat p.N491Y BLCA 2 37105153 37105153 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:37105153G>A c.1204C>T c.(1204-1206)Cct>Tct p.P402S BLCA 2 37113903 37113903 + Missense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:37113903T>A c.998A>T c.(997-999)aAg>aTg p.K333M BLCA 2 37121047 37121047 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr2:37121047C>T c.925G>A c.(925-927)Gac>Aac p.D309N BLCA 2 37129860 37129860 + Missense_Mutation SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:37129860G>C c.526C>G c.(526-528)Cta>Gta p.L176V BRCA 2 37076895 37076895 + Frame_Shift_Del DEL A A - TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr2:37076895delA c.2135delT c.(2134-2136)ttafs p.L712fs BRCA 2 37085129 37085129 + Silent SNP C C T TCGA-AN-A0FY-01A-11W-A050-09 TCGA-AN-A0FY-10A-01D-A047-09 g.chr2:37085129C>T c.1707G>A c.(1705-1707)acG>acA p.T569T BRCA 2 37111155 37111155 + Missense_Mutation SNP G G A TCGA-BH-A0BP-01A-11D-A10Y-09 TCGA-BH-A0BP-10A-01D-A110-09 g.chr2:37111155G>A c.1106C>T c.(1105-1107)tCa>tTa p.S369L BRCA 2 37121173 37121173 + Missense_Mutation SNP C C T TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr2:37121173C>T c.799G>A c.(799-801)Gtt>Att p.V267I BRCA 2 37129876 37129876 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:37129876A>G c.510T>C c.(508-510)ggT>ggC p.G170G BRCA 2 37129880 37129880 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:37129880A>C c.506T>G c.(505-507)gTg>gGg p.V169G BRCA 2 37193534 37193535 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 g.chr2:37193534_37193535insG c.72_73insC c.(70-75)ctcgggfs p.G25fs CESC 2 37082431 37082431 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr2:37082431G>A c.1902C>T c.(1900-1902)ttC>ttT p.F634F CESC 2 37096817 37096817 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr2:37096817C>T c.1379G>A c.(1378-1380)aGa>aAa p.R460K CESC 2 37152346 37152346 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:37152346C>G c.240G>C c.(238-240)caG>caC p.Q80H CESC 2 37193479 37193480 + Frame_Shift_Ins INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 g.chr2:37193479_37193480insC c.127_128insG c.(127-129)gccfs p.A43fs CHOL 2 37084999 37084999 + Splice_Site SNP C C G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:37084999C>G c.1837G>C c.(1837-1839)Gaa>Caa p.E613Q COAD 2 37078159 37078159 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr2:37078159G>T c.2070C>A c.(2068-2070)ttC>ttA p.F690L COAD 2 37096762 37096762 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:37096762C>A c.1434G>T c.(1432-1434)ttG>ttT p.L478F COAD 2 37113865 37113865 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:37113865delC c.1036delG c.(1036-1038)gtgfs p.V346fs COAD 2 37113913 37113913 + Missense_Mutation SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr2:37113913T>C c.988A>G c.(988-990)Acc>Gcc p.T330A COAD 2 37126774 37126774 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:37126774G>A c.687C>T c.(685-687)tcC>tcT p.S229S COAD 2 37129804 37129804 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:37129804C>T c.582G>A c.(580-582)acG>acA p.T194T COADREAD 2 37078159 37078159 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr2:37078159G>T c.2070C>A c.(2068-2070)ttC>ttA p.F690L COADREAD 2 37085086 37085086 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:37085086A>C c.1750T>G c.(1750-1752)Ttg>Gtg p.L584V COADREAD 2 37096762 37096762 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:37096762C>A c.1434G>T c.(1432-1434)ttG>ttT p.L478F COADREAD 2 37113865 37113865 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:37113865delC c.1036delG c.(1036-1038)gtgfs p.V346fs COADREAD 2 37113913 37113913 + Missense_Mutation SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr2:37113913T>C c.988A>G c.(988-990)Acc>Gcc p.T330A COADREAD 2 37126774 37126774 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:37126774G>A c.687C>T c.(685-687)tcC>tcT p.S229S COADREAD 2 37129804 37129804 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:37129804C>T c.582G>A c.(580-582)acG>acA p.T194T DLBC 2 37193498 37193498 + Missense_Mutation SNP C C T TCGA-FF-A7CX-01A-12D-A382-10 TCGA-FF-A7CX-10A-01D-A385-10 g.chr2:37193498C>T c.109G>A c.(109-111)Gcg>Acg p.A37T GBM 2 37078198 37078198 + Silent SNP C C T TCGA-06-5408-01A-01D-1696-08 TCGA-06-5408-10A-01D-1696-08 g.chr2:37078198C>T c.2031G>A c.(2029-2031)ccG>ccA p.P677P GBM 2 37121134 37121153 + Frame_Shift_Del DEL CTCGATCTTCACCGCTGTCA CTCGATCTTCACCGCTGTCA - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA c.819_838delTGACAGCGGTGAAGATCGAG c.(817-840)cctgacagcggtgaagatcgagatfs p.DSGEDRD274fs GBM 2 37152302 37152302 + Missense_Mutation SNP T T C TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr2:37152302T>C c.284A>G c.(283-285)aAg>aGg p.K95R GBMLGG 2 37078198 37078198 + Silent SNP C C T TCGA-06-5408-01A-01D-1696-08 TCGA-06-5408-10A-01D-1696-08 g.chr2:37078198C>T c.2031G>A c.(2029-2031)ccG>ccA p.P677P GBMLGG 2 37121134 37121153 + Frame_Shift_Del DEL CTCGATCTTCACCGCTGTCA CTCGATCTTCACCGCTGTCA - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA c.819_838delTGACAGCGGTGAAGATCGAG c.(817-840)cctgacagcggtgaagatcgagatfs p.DSGEDRD274fs GBMLGG 2 37152302 37152302 + Missense_Mutation SNP T T C TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr2:37152302T>C c.284A>G c.(283-285)aAg>aGg p.K95R GBMLGG 2 37152312 37152312 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:37152312C>T c.274G>A c.(274-276)Gaa>Aaa p.E92K HNSC 2 37078179 37078179 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr2:37078179C>T c.2050G>A c.(2050-2052)Gaa>Aaa p.E684K HNSC 2 37126701 37126701 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr2:37126701C>T c.760G>A c.(760-762)Gat>Aat p.D254N HNSC 2 37152277 37152277 + Silent SNP T T C TCGA-CN-A642-01A-12D-A30E-08 TCGA-CN-A642-10A-01D-A30H-08 g.chr2:37152277T>C c.309A>G c.(307-309)aaA>aaG p.K103K KICH 2 37094995 37094995 + Silent SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr2:37094995A>G c.1509T>C c.(1507-1509)tcT>tcC p.S503S KIPAN 2 37088370 37088370 + Missense_Mutation SNP C C T TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr2:37088370C>T c.1574G>A c.(1573-1575)aGc>aAc p.S525N KIPAN 2 37094995 37094995 + Silent SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr2:37094995A>G c.1509T>C c.(1507-1509)tcT>tcC p.S503S KIPAN 2 37126774 37126774 + Silent SNP G G A TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr2:37126774G>A c.687C>T c.(685-687)tcC>tcT p.S229S KIPAN 2 37129786 37129786 + Missense_Mutation SNP T T G TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chr2:37129786T>G c.600A>C c.(598-600)aaA>aaC p.K200N KIPAN 2 37193392 37193392 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:37193392A>G c.215T>C c.(214-216)gTg>gCg p.V72A KIRC 2 37088370 37088370 + Missense_Mutation SNP C C T TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr2:37088370C>T c.1574G>A c.(1573-1575)aGc>aAc p.S525N KIRC 2 37126774 37126774 + Silent SNP G G A TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr2:37126774G>A c.687C>T c.(685-687)tcC>tcT p.S229S KIRC 2 37193392 37193392 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:37193392A>G c.215T>C c.(214-216)gTg>gCg p.V72A KIRP 2 37129786 37129786 + Missense_Mutation SNP T T G TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chr2:37129786T>G c.600A>C c.(598-600)aaA>aaC p.K200N LAML 2 37143244 37143244 + Missense_Mutation SNP A A T TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 g.chr2:37143244A>T c.389T>A c.(388-390)aTg>aAg p.M130K LGG 2 37152312 37152312 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:37152312C>T c.274G>A c.(274-276)Gaa>Aaa p.E92K LIHC 2 37094974 37094974 + Nonsense_Mutation SNP A A T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr2:37094974A>T c.1530T>A c.(1528-1530)taT>taA p.Y510* LIHC 2 37129784 37129784 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr2:37129784delT c.602delA c.(601-603)aatfs p.N201fs LIHC 2 37129895 37129895 + Splice_Site SNP C C A TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr2:37129895C>A c.e5-1 LUAD 2 37076763 37076763 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:37076763C>T c.2179G>A c.(2179-2181)Gac>Aac p.D727N LUAD 2 37088298 37088298 + Missense_Mutation SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 g.chr2:37088298T>C c.1646A>G c.(1645-1647)aAc>aGc p.N549S LUAD 2 37088301 37088301 + Missense_Mutation SNP G G T TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr2:37088301G>T c.1643C>A c.(1642-1644)cCc>cAc p.P548H LUAD 2 37088314 37088314 + Missense_Mutation SNP T T A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr2:37088314T>A c.1630A>T c.(1630-1632)Aat>Tat p.N544Y LUAD 2 37096801 37096801 + Silent SNP G G C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:37096801G>C c.1395C>G c.(1393-1395)ggC>ggG p.G465G LUAD 2 37111118 37111118 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr2:37111118G>T c.1143C>A c.(1141-1143)agC>agA p.S381R LUAD 2 37121062 37121062 + Missense_Mutation SNP C C A TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr2:37121062C>A c.910G>T c.(910-912)Gca>Tca p.A304S LUAD 2 37126778 37126778 + Missense_Mutation SNP G G A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr2:37126778G>A c.683C>T c.(682-684)gCc>gTc p.A228V LUAD 2 37129805 37129805 + Missense_Mutation SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:37129805G>A c.581C>T c.(580-582)aCg>aTg p.T194M LUAD 2 37132762 37132762 + Splice_Site SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr2:37132762C>A c.e4-1 LUAD 2 37143295 37143295 + Splice_Site SNP C C G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:37143295C>G c.e3-1 LUAD 2 37152290 37152290 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr2:37152290A>T c.296T>A c.(295-297)gTg>gAg p.V99E LUSC 2 37085108 37085108 + Silent SNP A A T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr2:37085108A>T c.1728T>A c.(1726-1728)gcT>gcA p.A576A LUSC 2 37096816 37096816 + Missense_Mutation SNP T T G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr2:37096816T>G c.1380A>C c.(1378-1380)agA>agC p.R460S LUSC 2 37121150 37121150 + Missense_Mutation SNP G G C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr2:37121150G>C c.822C>G c.(820-822)gaC>gaG p.D274E LUSC 2 37126694 37126694 + Missense_Mutation SNP C C G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr2:37126694C>G c.767G>C c.(766-768)aGa>aCa p.R256T LUSC 2 37143248 37143248 + Missense_Mutation SNP C C A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr2:37143248C>A c.385G>T c.(385-387)Gat>Tat p.D129Y PAAD 2 37082439 37082439 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:37082439C>T c.1894G>A c.(1894-1896)Gca>Aca p.A632T PRAD 2 37076751 37076751 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:37076751G>A c.2191C>T c.(2191-2193)Cgt>Tgt p.R731C PRAD 2 37078199 37078199 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:37078199G>A c.2030C>T c.(2029-2031)cCg>cTg p.P677L READ 2 37085086 37085086 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:37085086A>C c.1750T>G c.(1750-1752)Ttg>Gtg p.L584V SARC 2 37126759 37126759 + Silent SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 g.chr2:37126759G>A c.702C>T c.(700-702)ttC>ttT p.F234F SKCM 2 37076662 37076662 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:37076662G>A c.2280C>T c.(2278-2280)ttC>ttT p.F760F SKCM 2 37076681 37076681 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr2:37076681G>A c.2261C>T c.(2260-2262)tCg>tTg p.S754L SKCM 2 37085021 37085021 + Silent SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:37085021T>A c.1815A>T c.(1813-1815)ctA>ctT p.L605L SKCM 2 37085036 37085036 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr2:37085036C>T c.1800G>A c.(1798-1800)gaG>gaA p.E600E SKCM 2 37096793 37096793 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr2:37096793G>A c.1403C>T c.(1402-1404)gCc>gTc p.A468V SKCM 2 37105036 37105036 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:37105036C>T c.1321G>A c.(1321-1323)Gat>Aat p.D441N SKCM 2 37105106 37105106 + Silent SNP A A T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr2:37105106A>T c.1251T>A c.(1249-1251)ctT>ctA p.L417L SKCM 2 37105142 37105144 + In_Frame_Del DEL AGA AGA - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr2:37105142_37105144delAGA c.1213_1215delTCT c.(1213-1215)tctdel p.S405del SKCM 2 37111138 37111138 + Missense_Mutation SNP C C A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr2:37111138C>A c.1123G>T c.(1123-1125)Ggt>Tgt p.G375C SKCM 2 37111155 37111155 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 g.chr2:37111155G>A c.1106C>T c.(1105-1107)tCa>tTa p.S369L SKCM 2 37111159 37111159 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr2:37111159G>A c.1102C>T c.(1102-1104)Cct>Tct p.P368S SKCM 2 37152297 37152297 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr2:37152297C>T c.289G>A c.(289-291)Gat>Aat p.D97N

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 2 37105154 37105154 single base substitution A T exon_variant BLCA-CN 2 37105154 37105154 single base substitution A T missense_variant F352L 1056T>A BLCA-CN 2 37105154 37105154 single base substitution A T missense_variant F401L 1203T>A BLCA-US 2 37105140 37105140 single base substitution C G exon_variant BLCA-US 2 37105140 37105140 single base substitution C G missense_variant G357A 1070G>C BLCA-US 2 37105140 37105140 single base substitution C G missense_variant G406A 1217G>C BLCA-US 2 37113903 37113903 single base substitution T A exon_variant BLCA-US 2 37113903 37113903 single base substitution T A intron_variant BLCA-US 2 37113903 37113903 single base substitution T A missense_variant K333M 998A>T BOCA-FR 2 37174660 37174660 single base substitution T C intron_variant BRCA-EU 2 37066382 37066382 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 37066788 37066788 single base substitution C G downstream_gene_variant BRCA-EU 2 37066837 37066837 single base substitution C G downstream_gene_variant BRCA-EU 2 37067444 37067444 single base substitution C T downstream_gene_variant BRCA-EU 2 37068198 37068198 single base substitution C T downstream_gene_variant BRCA-EU 2 37070735 37070735 deletion of <=200bp C - downstream_gene_variant BRCA-EU 2 37071520 37071520 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 37071520 37071520 single base substitution G A downstream_gene_variant BRCA-EU 2 37072082 37072082 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 37072082 37072082 single base substitution A C downstream_gene_variant BRCA-EU 2 37073670 37073670 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 37073670 37073670 single base substitution C T downstream_gene_variant BRCA-EU 2 37074426 37074426 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 37074426 37074426 single base substitution C G downstream_gene_variant BRCA-EU 2 37075175 37075175 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 37075175 37075175 single base substitution G C downstream_gene_variant BRCA-EU 2 37079698 37079698 single base substitution T C intron_variant BRCA-EU 2 37082965 37082965 single base substitution C T intron_variant BRCA-EU 2 37083838 37083838 single base substitution A C intron_variant BRCA-EU 2 37084759 37084759 single base substitution C T intron_variant BRCA-EU 2 37085915 37085915 single base substitution G A intron_variant BRCA-EU 2 37089654 37089654 single base substitution G A intron_variant BRCA-EU 2 37090206 37090206 single base substitution C G intron_variant BRCA-EU 2 37091019 37091019 single base substitution A G intron_variant BRCA-EU 2 37091573 37091573 single base substitution C G intron_variant BRCA-EU 2 37092348 37092348 single base substitution T C downstream_gene_variant BRCA-EU 2 37092348 37092348 single base substitution T C intron_variant BRCA-EU 2 37092372 37092372 single base substitution T C downstream_gene_variant BRCA-EU 2 37092372 37092372 single base substitution T C intron_variant BRCA-EU 2 37093867 37093867 single base substitution T G downstream_gene_variant BRCA-EU 2 37093867 37093867 single base substitution T G intron_variant BRCA-EU 2 37094101 37094101 single base substitution G A downstream_gene_variant BRCA-EU 2 37094101 37094101 single base substitution G A intron_variant BRCA-EU 2 37095287 37095287 single base substitution T C downstream_gene_variant BRCA-EU 2 37095287 37095287 single base substitution T C intron_variant BRCA-EU 2 37096011 37096011 single base substitution G C downstream_gene_variant BRCA-EU 2 37096011 37096011 single base substitution G C intron_variant BRCA-EU 2 37096377 37096377 single base substitution C G downstream_gene_variant BRCA-EU 2 37096377 37096377 single base substitution C G intron_variant BRCA-EU 2 37096631 37096631 single base substitution T C downstream_gene_variant BRCA-EU 2 37096631 37096631 single base substitution T C intron_variant BRCA-EU 2 37096642 37096642 single base substitution C G downstream_gene_variant BRCA-EU 2 37096642 37096642 single base substitution C G intron_variant BRCA-EU 2 37098258 37098262 deletion of <=200bp TAAAG - intron_variant BRCA-EU 2 37098497 37098497 single base substitution C T intron_variant BRCA-EU 2 37099156 37099156 single base substitution C G intron_variant BRCA-EU 2 37099514 37099514 single base substitution G T intron_variant BRCA-EU 2 37101510 37101510 deletion of <=200bp A - intron_variant BRCA-EU 2 37101845 37101845 single base substitution T C intron_variant BRCA-EU 2 37102706 37102706 single base substitution C G intron_variant BRCA-EU 2 37104777 37104777 single base substitution C G intron_variant BRCA-EU 2 37106218 37106218 insertion of <=200bp - T intron_variant BRCA-EU 2 37106685 37106685 single base substitution T C intron_variant BRCA-EU 2 37106934 37106934 single base substitution C T intron_variant BRCA-EU 2 37106950 37106950 single base substitution C T intron_variant BRCA-EU 2 37107986 37107986 single base substitution C T intron_variant BRCA-EU 2 37109679 37109679 single base substitution G A intron_variant BRCA-EU 2 37110479 37110479 single base substitution A C intron_variant BRCA-EU 2 37110568 37110568 single base substitution C G intron_variant BRCA-EU 2 37110607 37110607 deletion of <=200bp A - intron_variant BRCA-EU 2 37110670 37110670 single base substitution T C intron_variant BRCA-EU 2 37112199 37112199 deletion of <=200bp A - intron_variant BRCA-EU 2 37112805 37112805 single base substitution T C intron_variant BRCA-EU 2 37113879 37113879 single base substitution T C exon_variant BRCA-EU 2 37113879 37113879 single base substitution T C intron_variant BRCA-EU 2 37113879 37113879 single base substitution T C missense_variant K341R 1022A>G BRCA-EU 2 37114614 37114614 insertion of <=200bp - A intron_variant BRCA-EU 2 37116001 37116001 single base substitution A T intron_variant BRCA-EU 2 37116226 37116226 insertion of <=200bp - TT intron_variant BRCA-EU 2 37117888 37117891 deletion of <=200bp AAGT - intron_variant BRCA-EU 2 37119510 37119510 single base substitution T C intron_variant BRCA-EU 2 37119761 37119761 single base substitution T A intron_variant BRCA-EU 2 37120446 37120446 deletion of <=200bp C - intron_variant BRCA-EU 2 37120506 37120506 deletion of <=200bp T - intron_variant BRCA-EU 2 37122424 37122424 single base substitution C T intron_variant BRCA-EU 2 37123660 37123660 single base substitution C T intron_variant BRCA-EU 2 37124423 37124423 single base substitution C G intron_variant BRCA-EU 2 37124746 37124746 deletion of <=200bp T - intron_variant BRCA-EU 2 37124827 37124827 single base substitution G A intron_variant BRCA-EU 2 37125007 37125007 single base substitution T A intron_variant BRCA-EU 2 37126031 37126031 single base substitution G A intron_variant BRCA-EU 2 37126307 37126307 single base substitution C G intron_variant BRCA-EU 2 37128004 37128004 single base substitution C T intron_variant BRCA-EU 2 37128257 37128257 single base substitution C A intron_variant BRCA-EU 2 37128426 37128426 single base substitution G T intron_variant BRCA-EU 2 37128790 37128790 single base substitution A G intron_variant BRCA-EU 2 37129744 37129744 insertion of <=200bp - T exon_variant BRCA-EU 2 37129744 37129744 insertion of <=200bp - T frameshift_variant K202K? BRCA-EU 2 37129744 37129744 insertion of <=200bp - T frameshift_variant K214K? BRCA-EU 2 37130232 37130232 single base substitution G C intron_variant BRCA-EU 2 37130232 37130232 single base substitution G C upstream_gene_variant BRCA-EU 2 37135067 37135067 single base substitution G C intron_variant BRCA-EU 2 37135067 37135067 single base substitution G C upstream_gene_variant BRCA-EU 2 37139787 37139787 single base substitution C A intron_variant BRCA-EU 2 37143511 37143522 deletion of <=200bp GGAATAACTCTG - intron_variant BRCA-EU 2 37148658 37148658 single base substitution T C intron_variant BRCA-EU 2 37149237 37149237 single base substitution A T intron_variant BRCA-EU 2 37150982 37150982 insertion of <=200bp - A intron_variant BRCA-EU 2 37151730 37151730 single base substitution A G intron_variant BRCA-EU 2 37152903 37152903 single base substitution G A intron_variant BRCA-EU 2 37153490 37153490 single base substitution C G intron_variant BRCA-EU 2 37154408 37154408 single base substitution T G intron_variant BRCA-EU 2 37154668 37154668 single base substitution G A intron_variant BRCA-EU 2 37154740 37154740 single base substitution G C intron_variant BRCA-EU 2 37155243 37155243 single base substitution A T intron_variant BRCA-EU 2 37155400 37155400 single base substitution T C intron_variant BRCA-EU 2 37155428 37155428 single base substitution C T intron_variant BRCA-EU 2 37155429 37155429 single base substitution G A intron_variant BRCA-EU 2 37156443 37156443 insertion of <=200bp - TATT intron_variant BRCA-EU 2 37156489 37156489 single base substitution A G intron_variant BRCA-EU 2 37156561 37156561 single base substitution C G intron_variant BRCA-EU 2 37158114 37158114 single base substitution T G intron_variant BRCA-EU 2 37158344 37158344 single base substitution G A intron_variant BRCA-EU 2 37158646 37158646 single base substitution C T intron_variant BRCA-EU 2 37159309 37159309 deletion of <=200bp T - intron_variant BRCA-EU 2 37159322 37159322 single base substitution C G intron_variant BRCA-EU 2 37160100 37160103 deletion of <=200bp TCAG - intron_variant BRCA-EU 2 37161256 37161256 single base substitution G C intron_variant BRCA-EU 2 37162578 37162578 single base substitution C G intron_variant BRCA-EU 2 37163054 37163054 single base substitution T C intron_variant BRCA-EU 2 37164114 37164114 single base substitution G C intron_variant BRCA-EU 2 37165271 37165271 deletion of <=200bp A - intron_variant BRCA-EU 2 37166176 37166176 single base substitution T C intron_variant BRCA-EU 2 37167234 37167234 single base substitution A C intron_variant BRCA-EU 2 37167257 37167257 single base substitution G A intron_variant BRCA-EU 2 37170144 37170144 deletion of <=200bp T - intron_variant BRCA-EU 2 37170947 37170947 deletion of <=200bp A - intron_variant BRCA-EU 2 37170956 37170956 single base substitution C T intron_variant BRCA-EU 2 37171572 37171572 single base substitution A C intron_variant BRCA-EU 2 37171584 37171584 single base substitution G C intron_variant BRCA-EU 2 37173106 37173106 deletion of <=200bp T - intron_variant BRCA-EU 2 37173432 37173432 single base substitution G C intron_variant BRCA-EU 2 37174134 37174134 single base substitution G A intron_variant BRCA-EU 2 37177210 37177210 deletion of <=200bp A - intron_variant BRCA-EU 2 37177475 37177475 single base substitution C T intron_variant BRCA-EU 2 37177534 37177534 single base substitution T G intron_variant BRCA-EU 2 37178317 37178318 deletion of <=200bp TT - intron_variant BRCA-EU 2 37178442 37178442 single base substitution C G intron_variant BRCA-EU 2 37178809 37178809 single base substitution A G intron_variant BRCA-EU 2 37179347 37179347 single base substitution T C intron_variant BRCA-EU 2 37179592 37179592 single base substitution G C intron_variant BRCA-EU 2 37181556 37181556 single base substitution G A intron_variant BRCA-EU 2 37182818 37182818 single base substitution C G intron_variant BRCA-EU 2 37183761 37183761 single base substitution C T intron_variant BRCA-EU 2 37183962 37183962 single base substitution C A intron_variant BRCA-EU 2 37185605 37185605 single base substitution C T intron_variant BRCA-EU 2 37185899 37185899 single base substitution G T intron_variant BRCA-EU 2 37185905 37185905 single base substitution T A intron_variant BRCA-EU 2 37186398 37186398 deletion of <=200bp A - intron_variant BRCA-EU 2 37187710 37187710 single base substitution C A intron_variant BRCA-EU 2 37188592 37188592 single base substitution C T intron_variant BRCA-EU 2 37189195 37189195 single base substitution C G intron_variant BRCA-EU 2 37189391 37189391 single base substitution C G intron_variant BRCA-EU 2 37189695 37189695 single base substitution G C intron_variant BRCA-EU 2 37190165 37190165 deletion of <=200bp T - intron_variant BRCA-EU 2 37190237 37190237 single base substitution G A intron_variant BRCA-EU 2 37191170 37191170 single base substitution A G intron_variant BRCA-EU 2 37191246 37191246 single base substitution G A intron_variant BRCA-EU 2 37192288 37192288 insertion of <=200bp - A intron_variant BRCA-EU 2 37194849 37194849 single base substitution G A upstream_gene_variant BRCA-EU 2 37195324 37195324 single base substitution G A upstream_gene_variant BRCA-EU 2 37195880 37195880 single base substitution G T upstream_gene_variant BRCA-EU 2 37196245 37196245 single base substitution C A upstream_gene_variant BRCA-EU 2 37197823 37197823 single base substitution C T upstream_gene_variant BRCA-FR 2 37066788 37066788 single base substitution C G downstream_gene_variant BRCA-FR 2 37068198 37068198 single base substitution C T downstream_gene_variant BRCA-FR 2 37069024 37069024 single base substitution G T downstream_gene_variant BRCA-FR 2 37090663 37090663 single base substitution A T intron_variant BRCA-FR 2 37095363 37095363 single base substitution C T downstream_gene_variant BRCA-FR 2 37095363 37095363 single base substitution C T intron_variant BRCA-FR 2 37096642 37096642 single base substitution C G downstream_gene_variant BRCA-FR 2 37096642 37096642 single base substitution C G intron_variant BRCA-FR 2 37106950 37106950 single base substitution C T intron_variant BRCA-FR 2 37113879 37113879 single base substitution T C exon_variant BRCA-FR 2 37113879 37113879 single base substitution T C intron_variant BRCA-FR 2 37113879 37113879 single base substitution T C missense_variant K341R 1022A>G BRCA-FR 2 37124427 37124427 single base substitution G T intron_variant BRCA-FR 2 37131423 37131423 single base substitution C T intron_variant BRCA-FR 2 37131423 37131423 single base substitution C T upstream_gene_variant BRCA-FR 2 37135958 37135958 single base substitution A C intron_variant BRCA-FR 2 37156530 37156530 single base substitution C T intron_variant BRCA-FR 2 37158646 37158646 single base substitution C T intron_variant BRCA-FR 2 37167257 37167257 single base substitution G A intron_variant BRCA-FR 2 37173432 37173432 single base substitution G C intron_variant BRCA-FR 2 37175279 37175279 single base substitution C T intron_variant BRCA-FR 2 37177475 37177475 single base substitution C T intron_variant BRCA-FR 2 37178442 37178442 single base substitution C G intron_variant BRCA-FR 2 37179592 37179592 single base substitution G C intron_variant BRCA-FR 2 37181298 37181298 single base substitution A G intron_variant BRCA-FR 2 37191170 37191170 single base substitution A G intron_variant BRCA-FR 2 37194225 37194225 single base substitution C G upstream_gene_variant BRCA-FR 2 37195880 37195880 single base substitution G T upstream_gene_variant BRCA-UK 2 37113905 37113905 single base substitution G C exon_variant BRCA-UK 2 37113905 37113905 single base substitution G C intron_variant BRCA-UK 2 37113905 37113905 single base substitution G C synonymous_variant L332L 996C>G BRCA-UK 2 37128579 37128579 single base substitution C A intron_variant BRCA-UK 2 37139787 37139787 single base substitution C A intron_variant BRCA-UK 2 37154740 37154740 single base substitution G C intron_variant BRCA-UK 2 37155428 37155428 single base substitution C T intron_variant BRCA-UK 2 37158344 37158344 single base substitution G A intron_variant BRCA-UK 2 37166759 37166759 single base substitution C G intron_variant BRCA-UK 2 37183761 37183761 single base substitution C T intron_variant BRCA-UK 2 37197603 37197603 single base substitution C T upstream_gene_variant BRCA-US 2 37076895 37076895 deletion of <=200bp A - frameshift_variant L663 BRCA-US 2 37076895 37076895 deletion of <=200bp A - frameshift_variant L712 BRCA-US 2 37085129 37085129 single base substitution C T synonymous_variant T520T 1560G>A BRCA-US 2 37085129 37085129 single base substitution C T synonymous_variant T569T 1707G>A BRCA-US 2 37111155 37111155 single base substitution G A exon_variant BRCA-US 2 37111155 37111155 single base substitution G A missense_variant S320L 959C>T BRCA-US 2 37111155 37111155 single base substitution G A missense_variant S369L 1106C>T BRCA-US 2 37121173 37121173 single base substitution C T exon_variant BRCA-US 2 37121173 37121173 single base substitution C T missense_variant V255I 763G>A BRCA-US 2 37121173 37121173 single base substitution C T missense_variant V267I 799G>A BRCA-US 2 37129876 37129876 single base substitution A G exon_variant BRCA-US 2 37129876 37129876 single base substitution A G synonymous_variant G158G 474T>C BRCA-US 2 37129876 37129876 single base substitution A G synonymous_variant G170G 510T>C BRCA-US 2 37129880 37129880 single base substitution A C exon_variant BRCA-US 2 37129880 37129880 single base substitution A C missense_variant V157G 470T>G BRCA-US 2 37129880 37129880 single base substitution A C missense_variant V169G 506T>G BRCA-US 2 37193534 37193534 insertion of <=200bp - G frameshift_variant G25A? BTCA-JP 2 37111225 37111225 deletion of <=200bp A - intron_variant BTCA-JP 2 37111225 37111225 deletion of <=200bp A - splice_region_variant BTCA-JP 2 37111337 37111337 single base substitution T C intron_variant BTCA-JP 2 37132622 37132622 single base substitution T G intron_variant BTCA-JP 2 37132622 37132622 single base substitution T G upstream_gene_variant CESC-US 2 37082431 37082431 single base substitution G A synonymous_variant F585F 1755C>T CESC-US 2 37082431 37082431 single base substitution G A synonymous_variant F634F 1902C>T CESC-US 2 37096817 37096817 single base substitution C T downstream_gene_variant CESC-US 2 37096817 37096817 single base substitution C T missense_variant R411K 1232G>A CESC-US 2 37096817 37096817 single base substitution C T missense_variant R460K 1379G>A CESC-US 2 37152346 37152346 single base substitution C G missense_variant Q68H 204G>C CESC-US 2 37152346 37152346 single base substitution C G missense_variant Q80H 240G>C CESC-US 2 37193479 37193479 insertion of <=200bp - C frameshift_variant A31A? CESC-US 2 37193479 37193479 insertion of <=200bp - C frameshift_variant A43A? CLLE-ES 2 37075726 37075726 single base substitution G T 3_prime_UTR_variant CLLE-ES 2 37109030 37109030 single base substitution T A intron_variant CLLE-ES 2 37116065 37116065 single base substitution A C intron_variant CLLE-ES 2 37123118 37123118 single base substitution C A intron_variant CLLE-ES 2 37127815 37127815 single base substitution C T intron_variant CLLE-ES 2 37136209 37136209 single base substitution G C intron_variant CLLE-ES 2 37143802 37143802 single base substitution A C intron_variant CLLE-ES 2 37188428 37188428 single base substitution A T intron_variant CLLE-ES 2 37190879 37190879 single base substitution T C intron_variant COAD-US 2 37085069 37085069 single base substitution T C synonymous_variant A540A 1620A>G COAD-US 2 37085069 37085069 single base substitution T C synonymous_variant A589A 1767A>G COAD-US 2 37096762 37096762 single base substitution C A downstream_gene_variant COAD-US 2 37096762 37096762 single base substitution C A missense_variant L429F 1287G>T COAD-US 2 37096762 37096762 single base substitution C A missense_variant L478F 1434G>T COAD-US 2 37113865 37113865 deletion of <=200bp C - exon_variant COAD-US 2 37113865 37113865 deletion of <=200bp C - frameshift_variant V346 COAD-US 2 37113865 37113865 deletion of <=200bp C - intron_variant COAD-US 2 37121059 37121059 single base substitution C A exon_variant COAD-US 2 37121059 37121059 single base substitution C A missense_variant G293C 877G>T COAD-US 2 37121059 37121059 single base substitution C A missense_variant G305C 913G>T COAD-US 2 37129726 37129726 single base substitution C T splice_donor_variant COAD-US 2 37129804 37129804 single base substitution C T exon_variant COAD-US 2 37129804 37129804 single base substitution C T synonymous_variant T182T 546G>A COAD-US 2 37129804 37129804 single base substitution C T synonymous_variant T194T 582G>A COCA-CN 2 37082298 37082298 single base substitution G A intron_variant COCA-CN 2 37088522 37088522 single base substitution A G intron_variant COCA-CN 2 37096915 37096915 single base substitution G A intron_variant COCA-CN 2 37120994 37120994 single base substitution C A intron_variant COCA-CN 2 37129619 37129619 insertion of <=200bp - TAAT intron_variant COCA-CN 2 37129804 37129804 single base substitution C T exon_variant COCA-CN 2 37129804 37129804 single base substitution C T synonymous_variant T182T 546G>A COCA-CN 2 37129804 37129804 single base substitution C T synonymous_variant T194T 582G>A COCA-CN 2 37143370 37143370 single base substitution G T intron_variant COCA-CN 2 37152372 37152372 single base substitution A C intron_variant EOPC-DE 2 37121173 37121173 single base substitution C A exon_variant EOPC-DE 2 37121173 37121173 single base substitution C A missense_variant V255F 763G>T EOPC-DE 2 37121173 37121173 single base substitution C A missense_variant V267F 799G>T ESAD-UK 2 37073947 37073947 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 37073947 37073947 single base substitution A G downstream_gene_variant ESAD-UK 2 37077130 37077130 single base substitution C A intron_variant ESAD-UK 2 37080886 37080886 single base substitution T A intron_variant ESAD-UK 2 37081355 37081355 single base substitution G C intron_variant ESAD-UK 2 37083483 37083483 single base substitution T A intron_variant ESAD-UK 2 37086250 37086250 single base substitution G C intron_variant ESAD-UK 2 37086492 37086497 deletion of <=200bp AAAAGT - intron_variant ESAD-UK 2 37086518 37086518 single base substitution G T intron_variant ESAD-UK 2 37089388 37089388 single base substitution G C intron_variant ESAD-UK 2 37090864 37090864 single base substitution A G intron_variant ESAD-UK 2 37091269 37091269 single base substitution T G intron_variant ESAD-UK 2 37091465 37091465 single base substitution A T intron_variant ESAD-UK 2 37091600 37091600 single base substitution T A intron_variant ESAD-UK 2 37094237 37094237 single base substitution T G downstream_gene_variant ESAD-UK 2 37094237 37094237 single base substitution T G intron_variant ESAD-UK 2 37095296 37095296 single base substitution A T downstream_gene_variant ESAD-UK 2 37095296 37095296 single base substitution A T intron_variant ESAD-UK 2 37103210 37103210 single base substitution G A intron_variant ESAD-UK 2 37103964 37103964 single base substitution C G intron_variant ESAD-UK 2 37105905 37105905 insertion of <=200bp - T intron_variant ESAD-UK 2 37106218 37106218 deletion of <=200bp T - intron_variant ESAD-UK 2 37107083 37107083 single base substitution G A intron_variant ESAD-UK 2 37107591 37107591 single base substitution A T intron_variant ESAD-UK 2 37114561 37114561 single base substitution C T intron_variant ESAD-UK 2 37114925 37114925 single base substitution A G intron_variant ESAD-UK 2 37115781 37115781 insertion of <=200bp - TGTGTGTG intron_variant ESAD-UK 2 37116423 37116423 single base substitution C A intron_variant ESAD-UK 2 37117201 37117201 single base substitution T G intron_variant ESAD-UK 2 37124857 37124857 single base substitution G A intron_variant ESAD-UK 2 37125006 37125006 single base substitution A T intron_variant ESAD-UK 2 37125006 37125007 deletion of <=200bp AT - intron_variant ESAD-UK 2 37127077 37127077 single base substitution C G intron_variant ESAD-UK 2 37129205 37129205 single base substitution T C intron_variant ESAD-UK 2 37131619 37131619 single base substitution G A intron_variant ESAD-UK 2 37131619 37131619 single base substitution G A upstream_gene_variant ESAD-UK 2 37133277 37133277 insertion of <=200bp - AT intron_variant ESAD-UK 2 37133277 37133277 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 2 37136467 37136467 single base substitution A T intron_variant ESAD-UK 2 37137527 37137527 deletion of <=200bp A - intron_variant ESAD-UK 2 37140236 37140236 single base substitution G C intron_variant ESAD-UK 2 37140271 37140271 single base substitution C T intron_variant ESAD-UK 2 37141946 37141946 single base substitution A G intron_variant ESAD-UK 2 37142870 37142870 single base substitution T A intron_variant ESAD-UK 2 37142934 37142934 single base substitution C A intron_variant ESAD-UK 2 37144007 37144007 single base substitution G C intron_variant ESAD-UK 2 37146634 37146634 insertion of <=200bp - C intron_variant ESAD-UK 2 37149657 37149657 deletion of <=200bp G - intron_variant ESAD-UK 2 37154471 37154471 single base substitution C T intron_variant ESAD-UK 2 37158389 37158389 single base substitution G C intron_variant ESAD-UK 2 37158556 37158556 single base substitution G T intron_variant ESAD-UK 2 37158937 37158937 single base substitution C T intron_variant ESAD-UK 2 37160229 37160229 insertion of <=200bp - AT intron_variant ESAD-UK 2 37160851 37160851 single base substitution G A intron_variant ESAD-UK 2 37161287 37161287 single base substitution T A intron_variant ESAD-UK 2 37161665 37161665 single base substitution A T intron_variant ESAD-UK 2 37165114 37165114 single base substitution C A intron_variant ESAD-UK 2 37166320 37166320 single base substitution C T intron_variant ESAD-UK 2 37166400 37166400 single base substitution C T intron_variant ESAD-UK 2 37167247 37167247 single base substitution C A intron_variant ESAD-UK 2 37169060 37169060 single base substitution C T intron_variant ESAD-UK 2 37173052 37173052 single base substitution T C intron_variant ESAD-UK 2 37174355 37174355 single base substitution A T intron_variant ESAD-UK 2 37177497 37177497 single base substitution T C intron_variant ESAD-UK 2 37179870 37179870 single base substitution T G intron_variant ESAD-UK 2 37180407 37180407 insertion of <=200bp - TC intron_variant ESAD-UK 2 37181705 37181705 single base substitution T A intron_variant ESAD-UK 2 37184819 37184819 single base substitution A C intron_variant ESAD-UK 2 37185148 37185148 single base substitution C T intron_variant ESAD-UK 2 37185352 37185352 single base substitution C T intron_variant ESAD-UK 2 37185482 37185482 single base substitution G A intron_variant ESAD-UK 2 37186108 37186108 single base substitution A C intron_variant ESAD-UK 2 37186332 37186332 single base substitution T G intron_variant ESAD-UK 2 37187756 37187756 single base substitution T C intron_variant ESAD-UK 2 37189468 37189468 single base substitution C T intron_variant ESAD-UK 2 37190299 37190299 single base substitution T C intron_variant ESAD-UK 2 37192100 37192100 single base substitution A T intron_variant ESAD-UK 2 37192101 37192101 single base substitution A T intron_variant ESAD-UK 2 37197200 37197200 single base substitution G A upstream_gene_variant ESAD-UK 2 37197494 37197494 single base substitution A C upstream_gene_variant ESCA-CN 2 37076020 37076020 single base substitution C T 3_prime_UTR_variant ESCA-CN 2 37076643 37076643 single base substitution T C missense_variant I718V 2152A>G ESCA-CN 2 37076643 37076643 single base substitution T C missense_variant I767V 2299A>G ESCA-CN 2 37078196 37078196 single base substitution A C missense_variant I629S 1886T>G ESCA-CN 2 37078196 37078196 single base substitution A C missense_variant I678S 2033T>G ESCA-CN 2 37126681 37126681 single base substitution G C exon_variant ESCA-CN 2 37126681 37126681 single base substitution G C synonymous_variant V248V 744C>G ESCA-CN 2 37126681 37126681 single base substitution G C synonymous_variant V260V 780C>G ESCA-CN 2 37126753 37126753 single base substitution G C exon_variant ESCA-CN 2 37126753 37126753 single base substitution G C missense_variant F224L 672C>G ESCA-CN 2 37126753 37126753 single base substitution G C missense_variant F236L 708C>G ESCA-CN 2 37143098 37143098 single base substitution C G intron_variant GBM-US 2 37078198 37078198 single base substitution C T synonymous_variant P628P 1884G>A GBM-US 2 37078198 37078198 single base substitution C T synonymous_variant P677P 2031G>A GBM-US 2 37121134 37121153 deletion of <=200bp CTCGATCTTCACCGCTGTCA - exon_variant GBM-US 2 37121134 37121153 deletion of <=200bp CTCGATCTTCACCGCTGTCA - frameshift_variant PDSGEDRD261 GBM-US 2 37121134 37121153 deletion of <=200bp CTCGATCTTCACCGCTGTCA - frameshift_variant PDSGEDRD273 GBM-US 2 37152302 37152302 single base substitution T C missense_variant K83R 248A>G GBM-US 2 37152302 37152302 single base substitution T C missense_variant K95R 284A>G KIRC-US 2 37088370 37088370 single base substitution C T missense_variant S476N 1427G>A KIRC-US 2 37088370 37088370 single base substitution C T missense_variant S525N 1574G>A KIRC-US 2 37126774 37126774 single base substitution G A exon_variant KIRC-US 2 37126774 37126774 single base substitution G A synonymous_variant S217S 651C>T KIRC-US 2 37126774 37126774 single base substitution G A synonymous_variant S229S 687C>T KIRP-US 2 37129786 37129786 single base substitution T G exon_variant KIRP-US 2 37129786 37129786 single base substitution T G missense_variant K188N 564A>C KIRP-US 2 37129786 37129786 single base substitution T G missense_variant K200N 600A>C LAML-KR 2 37076498 37076498 single base substitution A C 3_prime_UTR_variant LAML-KR 2 37089846 37089846 single base substitution C T intron_variant LAML-KR 2 37089849 37089849 single base substitution C T intron_variant LAML-KR 2 37154388 37154388 single base substitution C T intron_variant LAML-KR 2 37154609 37154609 single base substitution A G intron_variant LAML-KR 2 37155826 37155826 single base substitution T A intron_variant LAML-KR 2 37155840 37155840 single base substitution C A intron_variant LAML-KR 2 37196968 37196968 single base substitution G A upstream_gene_variant LAML-KR 2 37197236 37197236 single base substitution G A upstream_gene_variant LICA-CN 2 37152334 37152334 single base substitution C T synonymous_variant L72L 216G>A LICA-CN 2 37152334 37152334 single base substitution C T synonymous_variant L84L 252G>A LICA-FR 2 37074434 37074434 single base substitution A T 3_prime_UTR_variant LICA-FR 2 37074434 37074434 single base substitution A T downstream_gene_variant LICA-FR 2 37082481 37082481 single base substitution C T missense_variant A569T 1705G>A LICA-FR 2 37082481 37082481 single base substitution C T missense_variant A618T 1852G>A LICA-FR 2 37088288 37088288 single base substitution G A synonymous_variant P503P 1509C>T LICA-FR 2 37088288 37088288 single base substitution G A synonymous_variant P552P 1656C>T LICA-FR 2 37088360 37088360 single base substitution A G synonymous_variant G479G 1437T>C LICA-FR 2 37088360 37088360 single base substitution A G synonymous_variant G528G 1584T>C LICA-FR 2 37103428 37103428 single base substitution A T intron_variant LICA-FR 2 37111116 37111116 single base substitution C T exon_variant LICA-FR 2 37111116 37111116 single base substitution C T missense_variant S333N 998G>A LICA-FR 2 37111116 37111116 single base substitution C T missense_variant S382N 1145G>A LICA-FR 2 37112709 37112709 single base substitution C A intron_variant LICA-FR 2 37155932 37155932 insertion of <=200bp - A intron_variant LICA-FR 2 37156729 37156729 single base substitution T C intron_variant LICA-FR 2 37157372 37157372 single base substitution C T intron_variant LICA-FR 2 37157748 37157748 single base substitution T C intron_variant LICA-FR 2 37157913 37157913 single base substitution G C intron_variant LICA-FR 2 37157990 37157990 single base substitution A T intron_variant LICA-FR 2 37159400 37159400 single base substitution C A intron_variant LICA-FR 2 37163692 37163692 single base substitution T C intron_variant LICA-FR 2 37172086 37172086 single base substitution C T intron_variant LICA-FR 2 37180546 37180546 deletion of <=200bp T - intron_variant LICA-FR 2 37187203 37187203 single base substitution A C intron_variant LINC-JP 2 37066994 37066994 single base substitution T C downstream_gene_variant LINC-JP 2 37072351 37072351 single base substitution T C 3_prime_UTR_variant LINC-JP 2 37072351 37072351 single base substitution T C downstream_gene_variant LINC-JP 2 37076889 37076900 deletion of <=200bp ACTGCTAAACTT - disruptive_inframe_deletion TSLAV661T LINC-JP 2 37076889 37076900 deletion of <=200bp ACTGCTAAACTT - disruptive_inframe_deletion TSLAV710T LINC-JP 2 37078618 37078618 single base substitution T C intron_variant LINC-JP 2 37080678 37080678 single base substitution G A intron_variant LINC-JP 2 37106181 37106181 single base substitution C A intron_variant LINC-JP 2 37107964 37107964 single base substitution A G intron_variant LINC-JP 2 37121732 37121732 single base substitution C T intron_variant LINC-JP 2 37125540 37125540 single base substitution A T intron_variant LINC-JP 2 37140693 37140693 single base substitution C T intron_variant LINC-JP 2 37142713 37142713 single base substitution G T intron_variant LINC-JP 2 37165614 37165614 single base substitution C T intron_variant LINC-JP 2 37165619 37165619 single base substitution G T intron_variant LINC-JP 2 37182025 37182025 single base substitution G C intron_variant LINC-JP 2 37186073 37186073 single base substitution C T intron_variant LINC-JP 2 37193533 37193533 single base substitution C A missense_variant G25V 74G>T LIRI-JP 2 37067105 37067105 single base substitution T C downstream_gene_variant LIRI-JP 2 37067611 37067611 single base substitution C A downstream_gene_variant LIRI-JP 2 37071378 37071378 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 37071378 37071378 single base substitution T C downstream_gene_variant LIRI-JP 2 37073368 37073368 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 37073368 37073368 single base substitution T C downstream_gene_variant LIRI-JP 2 37074337 37074337 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 37074337 37074337 single base substitution G A downstream_gene_variant LIRI-JP 2 37076723 37076723 single base substitution C T missense_variant C691Y 2072G>A LIRI-JP 2 37076723 37076723 single base substitution C T missense_variant C740Y 2219G>A LIRI-JP 2 37077051 37077051 single base substitution A C intron_variant LIRI-JP 2 37077875 37077875 single base substitution C T intron_variant LIRI-JP 2 37077916 37077916 single base substitution T A intron_variant LIRI-JP 2 37078133 37078134 deletion of <=200bp AA - intron_variant LIRI-JP 2 37078193 37078193 single base substitution C A missense_variant S630I 1889G>T LIRI-JP 2 37078193 37078193 single base substitution C A missense_variant S679I 2036G>T LIRI-JP 2 37078581 37078581 single base substitution G A intron_variant LIRI-JP 2 37079570 37079570 single base substitution C T intron_variant LIRI-JP 2 37081723 37081723 single base substitution C T intron_variant LIRI-JP 2 37082003 37082003 single base substitution A C intron_variant LIRI-JP 2 37085644 37085644 single base substitution A G intron_variant LIRI-JP 2 37085849 37085849 single base substitution T C intron_variant LIRI-JP 2 37086726 37086726 single base substitution A G intron_variant LIRI-JP 2 37086742 37086742 single base substitution A C intron_variant LIRI-JP 2 37086849 37086849 single base substitution A C intron_variant LIRI-JP 2 37087494 37087494 single base substitution T C intron_variant LIRI-JP 2 37087644 37087644 single base substitution T C intron_variant LIRI-JP 2 37088250 37088250 single base substitution T A intron_variant LIRI-JP 2 37088655 37088655 single base substitution T G intron_variant LIRI-JP 2 37090695 37090695 single base substitution C A intron_variant LIRI-JP 2 37097661 37097661 single base substitution A G intron_variant LIRI-JP 2 37103867 37103867 single base substitution T G intron_variant LIRI-JP 2 37106504 37106504 single base substitution C T intron_variant LIRI-JP 2 37108074 37108074 single base substitution A G intron_variant LIRI-JP 2 37112625 37112625 single base substitution T C intron_variant LIRI-JP 2 37113320 37113320 single base substitution T C intron_variant LIRI-JP 2 37114111 37114111 single base substitution T A intron_variant LIRI-JP 2 37115571 37115571 single base substitution T C intron_variant LIRI-JP 2 37117103 37117103 single base substitution T C intron_variant LIRI-JP 2 37120750 37120750 single base substitution C A intron_variant LIRI-JP 2 37122062 37122062 single base substitution T C intron_variant LIRI-JP 2 37123341 37123341 single base substitution T G intron_variant LIRI-JP 2 37124113 37124113 single base substitution C G intron_variant LIRI-JP 2 37126869 37126869 single base substitution T C intron_variant LIRI-JP 2 37128032 37128032 single base substitution T C intron_variant LIRI-JP 2 37129077 37129077 single base substitution T C intron_variant LIRI-JP 2 37129664 37129671 deletion of <=200bp AAAACCAA - intron_variant LIRI-JP 2 37130039 37130039 single base substitution A C exon_variant LIRI-JP 2 37130039 37130039 single base substitution A C intron_variant LIRI-JP 2 37130044 37130044 single base substitution T G exon_variant LIRI-JP 2 37130044 37130044 single base substitution T G intron_variant LIRI-JP 2 37130557 37130557 single base substitution T G intron_variant LIRI-JP 2 37130557 37130557 single base substitution T G upstream_gene_variant LIRI-JP 2 37131258 37131258 single base substitution T G intron_variant LIRI-JP 2 37131258 37131258 single base substitution T G upstream_gene_variant LIRI-JP 2 37131296 37131296 single base substitution G A intron_variant LIRI-JP 2 37131296 37131296 single base substitution G A upstream_gene_variant LIRI-JP 2 37131688 37131688 single base substitution G A intron_variant LIRI-JP 2 37131688 37131688 single base substitution G A upstream_gene_variant LIRI-JP 2 37132906 37132906 single base substitution T G intron_variant LIRI-JP 2 37132906 37132906 single base substitution T G upstream_gene_variant LIRI-JP 2 37134405 37134405 single base substitution T C intron_variant LIRI-JP 2 37134405 37134405 single base substitution T C upstream_gene_variant LIRI-JP 2 37136016 37136016 single base substitution C G intron_variant LIRI-JP 2 37136570 37136570 single base substitution C T intron_variant LIRI-JP 2 37138435 37138435 single base substitution T C intron_variant LIRI-JP 2 37138549 37138549 single base substitution G C intron_variant LIRI-JP 2 37140512 37140512 single base substitution T C intron_variant LIRI-JP 2 37140998 37140998 single base substitution A T intron_variant LIRI-JP 2 37141547 37141547 single base substitution A G intron_variant LIRI-JP 2 37144027 37144027 single base substitution T C intron_variant LIRI-JP 2 37145358 37145358 single base substitution T G intron_variant LIRI-JP 2 37145406 37145406 single base substitution C A intron_variant LIRI-JP 2 37146720 37146720 single base substitution G A intron_variant LIRI-JP 2 37148619 37148619 single base substitution T C intron_variant LIRI-JP 2 37148981 37148981 single base substitution C T intron_variant LIRI-JP 2 37150751 37150751 single base substitution C G intron_variant LIRI-JP 2 37151281 37151281 single base substitution C T intron_variant LIRI-JP 2 37153835 37153835 single base substitution G A intron_variant LIRI-JP 2 37153848 37153848 single base substitution T C intron_variant LIRI-JP 2 37153880 37153880 single base substitution C T intron_variant LIRI-JP 2 37153944 37153944 single base substitution A T intron_variant LIRI-JP 2 37154336 37154336 single base substitution T A intron_variant LIRI-JP 2 37154788 37154788 single base substitution T C intron_variant LIRI-JP 2 37158441 37158441 single base substitution G A intron_variant LIRI-JP 2 37160911 37160911 single base substitution C T intron_variant LIRI-JP 2 37162447 37162447 single base substitution T C intron_variant LIRI-JP 2 37162962 37162962 single base substitution C G intron_variant LIRI-JP 2 37164873 37164873 single base substitution T C intron_variant LIRI-JP 2 37165555 37165555 single base substitution C T intron_variant LIRI-JP 2 37166698 37166698 single base substitution T C intron_variant LIRI-JP 2 37167127 37167127 single base substitution C T intron_variant LIRI-JP 2 37167176 37167176 single base substitution T C intron_variant LIRI-JP 2 37167339 37167339 single base substitution G C intron_variant LIRI-JP 2 37167427 37167427 single base substitution G T intron_variant LIRI-JP 2 37167728 37167728 single base substitution T C intron_variant LIRI-JP 2 37168103 37168103 single base substitution C T intron_variant LIRI-JP 2 37171428 37171428 single base substitution T C intron_variant LIRI-JP 2 37172626 37172626 single base substitution T C intron_variant LIRI-JP 2 37178110 37178110 single base substitution T C intron_variant LIRI-JP 2 37178470 37178470 single base substitution C T intron_variant LIRI-JP 2 37179323 37179323 single base substitution T C intron_variant LIRI-JP 2 37179777 37179777 single base substitution C T intron_variant LIRI-JP 2 37179814 37179814 single base substitution T C intron_variant LIRI-JP 2 37179957 37179957 single base substitution G T intron_variant LIRI-JP 2 37180019 37180019 single base substitution C T intron_variant LIRI-JP 2 37180991 37180991 single base substitution T C intron_variant LIRI-JP 2 37185348 37185348 single base substitution C A intron_variant LIRI-JP 2 37185786 37185786 single base substitution A C intron_variant LIRI-JP 2 37185851 37185851 single base substitution A G intron_variant LIRI-JP 2 37186071 37186071 single base substitution G A intron_variant LIRI-JP 2 37187958 37187958 single base substitution T C intron_variant LIRI-JP 2 37188735 37188735 single base substitution C T intron_variant LIRI-JP 2 37189825 37189825 single base substitution T C intron_variant LIRI-JP 2 37190150 37190150 single base substitution T C intron_variant LIRI-JP 2 37191638 37191638 single base substitution T C intron_variant LIRI-JP 2 37192068 37192068 single base substitution A C intron_variant LIRI-JP 2 37194118 37194118 single base substitution G T upstream_gene_variant LUSC-KR 2 37066747 37066747 single base substitution T C downstream_gene_variant LUSC-KR 2 37070458 37070458 single base substitution G A downstream_gene_variant LUSC-KR 2 37075366 37075366 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 37075366 37075366 single base substitution G A downstream_gene_variant LUSC-KR 2 37075397 37075397 single base substitution T G 3_prime_UTR_variant LUSC-KR 2 37075397 37075397 single base substitution T G downstream_gene_variant LUSC-KR 2 37089989 37089989 single base substitution T G intron_variant LUSC-KR 2 37093412 37093412 single base substitution C A downstream_gene_variant LUSC-KR 2 37093412 37093412 single base substitution C A intron_variant LUSC-KR 2 37094368 37094368 single base substitution C T downstream_gene_variant LUSC-KR 2 37094368 37094368 single base substitution C T intron_variant LUSC-KR 2 37103428 37103428 single base substitution A T intron_variant LUSC-KR 2 37103459 37103459 single base substitution T G intron_variant LUSC-KR 2 37117175 37117175 single base substitution G C intron_variant LUSC-KR 2 37117747 37117747 single base substitution C A intron_variant LUSC-KR 2 37120521 37120521 single base substitution G A intron_variant LUSC-KR 2 37124548 37124548 single base substitution G C intron_variant LUSC-KR 2 37124647 37124647 single base substitution C T intron_variant LUSC-KR 2 37128786 37128786 single base substitution C A intron_variant LUSC-KR 2 37131681 37131681 single base substitution G C intron_variant LUSC-KR 2 37131681 37131681 single base substitution G C upstream_gene_variant LUSC-KR 2 37135466 37135466 single base substitution T C intron_variant LUSC-KR 2 37144237 37144237 single base substitution T C intron_variant LUSC-KR 2 37148200 37148200 single base substitution G C intron_variant LUSC-KR 2 37151423 37151423 single base substitution C A intron_variant LUSC-KR 2 37151801 37151801 single base substitution C A intron_variant LUSC-KR 2 37152171 37152171 single base substitution C T intron_variant LUSC-KR 2 37153944 37153944 single base substitution A T intron_variant LUSC-KR 2 37154220 37154220 single base substitution C T intron_variant LUSC-KR 2 37155162 37155162 single base substitution G A intron_variant LUSC-KR 2 37160070 37160070 single base substitution G T intron_variant LUSC-KR 2 37163509 37163509 single base substitution C G intron_variant LUSC-KR 2 37166754 37166754 single base substitution G C intron_variant LUSC-KR 2 37167295 37167295 single base substitution C G intron_variant LUSC-KR 2 37167330 37167330 single base substitution T A intron_variant LUSC-KR 2 37172697 37172697 single base substitution C G intron_variant LUSC-KR 2 37176314 37176314 single base substitution C A intron_variant LUSC-KR 2 37177579 37177579 single base substitution G A intron_variant LUSC-KR 2 37180496 37180496 single base substitution C G intron_variant LUSC-KR 2 37183041 37183041 single base substitution T C intron_variant LUSC-KR 2 37184787 37184787 single base substitution G C intron_variant LUSC-KR 2 37185588 37185588 single base substitution T C intron_variant LUSC-KR 2 37188037 37188037 single base substitution T C intron_variant LUSC-KR 2 37188178 37188178 single base substitution C A intron_variant LUSC-KR 2 37188933 37188933 single base substitution G T intron_variant LUSC-KR 2 37194446 37194446 single base substitution T C upstream_gene_variant LUSC-KR 2 37197846 37197846 single base substitution G A upstream_gene_variant LUSC-US 2 37085108 37085108 single base substitution A T synonymous_variant A527A 1581T>A LUSC-US 2 37085108 37085108 single base substitution A T synonymous_variant A576A 1728T>A LUSC-US 2 37096816 37096816 single base substitution T G downstream_gene_variant LUSC-US 2 37096816 37096816 single base substitution T G missense_variant R411S 1233A>C LUSC-US 2 37096816 37096816 single base substitution T G missense_variant R460S 1380A>C LUSC-US 2 37121150 37121150 single base substitution G C exon_variant LUSC-US 2 37121150 37121150 single base substitution G C missense_variant D262E 786C>G LUSC-US 2 37121150 37121150 single base substitution G C missense_variant D274E 822C>G LUSC-US 2 37126694 37126694 single base substitution C G exon_variant LUSC-US 2 37126694 37126694 single base substitution C G missense_variant R244T 731G>C LUSC-US 2 37126694 37126694 single base substitution C G missense_variant R256T 767G>C LUSC-US 2 37143248 37143248 single base substitution C A missense_variant D117Y 349G>T LUSC-US 2 37143248 37143248 single base substitution C A missense_variant D129Y 385G>T MALY-DE 2 37075019 37075019 single base substitution A C 3_prime_UTR_variant MALY-DE 2 37075019 37075019 single base substitution A C downstream_gene_variant MALY-DE 2 37076172 37076172 single base substitution T G 3_prime_UTR_variant MALY-DE 2 37081915 37081915 deletion of <=200bp C - intron_variant MALY-DE 2 37107346 37107346 single base substitution A C intron_variant MALY-DE 2 37113549 37113549 single base substitution T A intron_variant MALY-DE 2 37116816 37116816 single base substitution G A intron_variant MALY-DE 2 37143852 37143852 deletion of <=200bp T - intron_variant MALY-DE 2 37144199 37144199 single base substitution A T intron_variant MALY-DE 2 37146633 37146633 single base substitution A C intron_variant MALY-DE 2 37150945 37150945 single base substitution G C intron_variant MALY-DE 2 37169848 37169848 insertion of <=200bp - T intron_variant MALY-DE 2 37175084 37175084 single base substitution T G intron_variant MALY-DE 2 37194042 37194043 deletion of <=200bp AC - upstream_gene_variant MALY-DE 2 37194788 37194788 single base substitution G A upstream_gene_variant MELA-AU 2 37065809 37065809 single base substitution T A downstream_gene_variant MELA-AU 2 37065893 37065893 single base substitution G A downstream_gene_variant MELA-AU 2 37065938 37065938 single base substitution G A downstream_gene_variant MELA-AU 2 37066858 37066858 single base substitution G A downstream_gene_variant MELA-AU 2 37066939 37066939 single base substitution A T downstream_gene_variant MELA-AU 2 37067104 37067104 single base substitution C T downstream_gene_variant MELA-AU 2 37067179 37067179 single base substitution G A downstream_gene_variant MELA-AU 2 37067411 37067412 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 37067944 37067944 single base substitution G A downstream_gene_variant MELA-AU 2 37068913 37068913 single base substitution G A downstream_gene_variant MELA-AU 2 37070052 37070052 single base substitution G A downstream_gene_variant MELA-AU 2 37070167 37070167 single base substitution G A downstream_gene_variant MELA-AU 2 37070306 37070306 single base substitution G A downstream_gene_variant MELA-AU 2 37070547 37070547 single base substitution G A downstream_gene_variant MELA-AU 2 37071112 37071112 single base substitution C T 3_prime_UTR_variant MELA-AU 2 37071112 37071112 single base substitution C T downstream_gene_variant MELA-AU 2 37071243 37071243 single base substitution A G 3_prime_UTR_variant MELA-AU 2 37071243 37071243 single base substitution A G downstream_gene_variant MELA-AU 2 37071346 37071346 single base substitution G A 3_prime_UTR_variant MELA-AU 2 37071346 37071346 single base substitution G A downstream_gene_variant MELA-AU 2 37071813 37071827 deletion of <=200bp TTGTTTTTTTTAGAA - 3_prime_UTR_variant MELA-AU 2 37071813 37071827 deletion of <=200bp TTGTTTTTTTTAGAA - downstream_gene_variant MELA-AU 2 37071855 37071855 single base substitution G A 3_prime_UTR_variant MELA-AU 2 37071855 37071855 single base substitution G A downstream_gene_variant MELA-AU 2 37072180 37072180 single base substitution A G 3_prime_UTR_variant MELA-AU 2 37072180 37072180 single base substitution A G downstream_gene_variant MELA-AU 2 37072673 37072673 single base substitution T C 3_prime_UTR_variant MELA-AU 2 37072673 37072673 single base substitution T C downstream_gene_variant MELA-AU 2 37074391 37074391 single base substitution G A 3_prime_UTR_variant MELA-AU 2 37074391 37074391 single base substitution G A downstream_gene_variant MELA-AU 2 37074532 37074532 single base substitution C T 3_prime_UTR_variant MELA-AU 2 37074532 37074532 single base substitution C T downstream_gene_variant MELA-AU 2 37076287 37076287 single base substitution G A 3_prime_UTR_variant MELA-AU 2 37076518 37076518 single base substitution G A 3_prime_UTR_variant MELA-AU 2 37076794 37076794 single base substitution G A intron_variant MELA-AU 2 37076837 37076837 single base substitution T G intron_variant MELA-AU 2 37077337 37077337 single base substitution G A intron_variant MELA-AU 2 37077710 37077710 single base substitution G A intron_variant MELA-AU 2 37077993 37077993 single base substitution G A intron_variant MELA-AU 2 37078346 37078346 single base substitution G T intron_variant MELA-AU 2 37078354 37078354 single base substitution G A intron_variant MELA-AU 2 37078534 37078534 single base substitution G A intron_variant MELA-AU 2 37078613 37078613 single base substitution G A intron_variant MELA-AU 2 37078981 37078981 single base substitution G A intron_variant MELA-AU 2 37080972 37080972 single base substitution C A intron_variant MELA-AU 2 37081167 37081167 single base substitution G A intron_variant MELA-AU 2 37081487 37081487 single base substitution C T intron_variant MELA-AU 2 37081510 37081510 single base substitution C T intron_variant MELA-AU 2 37082485 37082485 single base substitution G A synonymous_variant I567I 1701C>T MELA-AU 2 37082485 37082485 single base substitution G A synonymous_variant I616I 1848C>T MELA-AU 2 37083472 37083472 single base substitution T C intron_variant MELA-AU 2 37083613 37083613 single base substitution A C intron_variant MELA-AU 2 37083809 37083809 single base substitution G A intron_variant MELA-AU 2 37084219 37084219 single base substitution G A intron_variant MELA-AU 2 37084989 37084989 single base substitution A G intron_variant MELA-AU 2 37085021 37085021 single base substitution T A synonymous_variant L556L 1668A>T MELA-AU 2 37085021 37085021 single base substitution T A synonymous_variant L605L 1815A>T MELA-AU 2 37087260 37087260 single base substitution G A intron_variant MELA-AU 2 37087647 37087647 single base substitution T C intron_variant MELA-AU 2 37087845 37087845 single base substitution G A intron_variant MELA-AU 2 37089233 37089233 single base substitution G A intron_variant MELA-AU 2 37090571 37090571 single base substitution G A intron_variant MELA-AU 2 37091825 37091825 single base substitution G A intron_variant MELA-AU 2 37091921 37091921 single base substitution T C downstream_gene_variant MELA-AU 2 37091921 37091921 single base substitution T C intron_variant MELA-AU 2 37093210 37093210 single base substitution G A downstream_gene_variant MELA-AU 2 37093210 37093210 single base substitution G A intron_variant MELA-AU 2 37093327 37093327 single base substitution C A downstream_gene_variant MELA-AU 2 37093327 37093327 single base substitution C A intron_variant MELA-AU 2 37093375 37093375 single base substitution T A downstream_gene_variant MELA-AU 2 37093375 37093375 single base substitution T A intron_variant MELA-AU 2 37094377 37094377 single base substitution G A downstream_gene_variant MELA-AU 2 37094377 37094377 single base substitution G A intron_variant MELA-AU 2 37094424 37094424 single base substitution A C downstream_gene_variant MELA-AU 2 37094424 37094424 single base substitution A C intron_variant MELA-AU 2 37094610 37094610 single base substitution C T downstream_gene_variant MELA-AU 2 37094610 37094610 single base substitution C T intron_variant MELA-AU 2 37094671 37094671 single base substitution G A downstream_gene_variant MELA-AU 2 37094671 37094671 single base substitution G A intron_variant MELA-AU 2 37094683 37094683 single base substitution G A downstream_gene_variant MELA-AU 2 37094683 37094683 single base substitution G A intron_variant MELA-AU 2 37095250 37095250 single base substitution G A downstream_gene_variant MELA-AU 2 37095250 37095250 single base substitution G A intron_variant MELA-AU 2 37095405 37095405 single base substitution G A downstream_gene_variant MELA-AU 2 37095405 37095405 single base substitution G A intron_variant MELA-AU 2 37095531 37095531 single base substitution G A downstream_gene_variant MELA-AU 2 37095531 37095531 single base substitution G A intron_variant MELA-AU 2 37095812 37095812 single base substitution G A downstream_gene_variant MELA-AU 2 37095812 37095812 single base substitution G A intron_variant MELA-AU 2 37095866 37095866 single base substitution A G downstream_gene_variant MELA-AU 2 37095866 37095866 single base substitution A G intron_variant MELA-AU 2 37096054 37096054 single base substitution G A downstream_gene_variant MELA-AU 2 37096054 37096054 single base substitution G A intron_variant MELA-AU 2 37096608 37096608 single base substitution G A downstream_gene_variant MELA-AU 2 37096608 37096608 single base substitution G A intron_variant MELA-AU 2 37097027 37097027 single base substitution G A intron_variant MELA-AU 2 37097546 37097547 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant MELA-AU 2 37097670 37097670 single base substitution A T intron_variant MELA-AU 2 37097687 37097687 single base substitution C T intron_variant MELA-AU 2 37098051 37098051 single base substitution G A intron_variant MELA-AU 2 37098627 37098627 single base substitution C G intron_variant MELA-AU 2 37099458 37099458 single base substitution G A intron_variant MELA-AU 2 37099513 37099513 single base substitution G A intron_variant MELA-AU 2 37099517 37099517 single base substitution G A intron_variant MELA-AU 2 37099559 37099559 single base substitution G A intron_variant MELA-AU 2 37099893 37099893 single base substitution G A intron_variant MELA-AU 2 37100007 37100007 single base substitution A T intron_variant MELA-AU 2 37100771 37100771 single base substitution G A intron_variant MELA-AU 2 37100790 37100790 single base substitution C T intron_variant MELA-AU 2 37101628 37101628 single base substitution G A intron_variant MELA-AU 2 37101715 37101715 single base substitution G A intron_variant MELA-AU 2 37101716 37101716 single base substitution G A intron_variant MELA-AU 2 37101725 37101725 single base substitution C T intron_variant MELA-AU 2 37102241 37102241 single base substitution G A intron_variant MELA-AU 2 37103120 37103120 single base substitution C T intron_variant MELA-AU 2 37103428 37103428 single base substitution A T intron_variant MELA-AU 2 37103749 37103749 single base substitution G A intron_variant MELA-AU 2 37104507 37104507 single base substitution A G intron_variant MELA-AU 2 37104829 37104829 single base substitution C T intron_variant MELA-AU 2 37105036 37105036 single base substitution C T missense_variant D392N 1174G>A MELA-AU 2 37105036 37105036 single base substitution C T missense_variant D441N 1321G>A MELA-AU 2 37105036 37105036 single base substitution C T splice_region_variant MELA-AU 2 37105073 37105073 single base substitution G A exon_variant MELA-AU 2 37105073 37105073 single base substitution G A synonymous_variant G379G 1137C>T MELA-AU 2 37105073 37105073 single base substitution G A synonymous_variant G428G 1284C>T MELA-AU 2 37105190 37105190 single base substitution G A intron_variant MELA-AU 2 37105322 37105322 single base substitution C T intron_variant MELA-AU 2 37106238 37106238 single base substitution G A intron_variant MELA-AU 2 37107071 37107071 single base substitution G A intron_variant MELA-AU 2 37107850 37107850 single base substitution G A intron_variant MELA-AU 2 37107955 37107955 single base substitution G T intron_variant MELA-AU 2 37108133 37108133 single base substitution G A intron_variant MELA-AU 2 37109213 37109213 single base substitution C T intron_variant MELA-AU 2 37109565 37109566 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 37110244 37110244 single base substitution T C intron_variant MELA-AU 2 37110644 37110644 single base substitution G A intron_variant MELA-AU 2 37111138 37111138 single base substitution C A exon_variant MELA-AU 2 37111138 37111138 single base substitution C A missense_variant G326C 976G>T MELA-AU 2 37111138 37111138 single base substitution C A missense_variant G375C 1123G>T MELA-AU 2 37111216 37111216 single base substitution G A missense_variant P300S 898C>T MELA-AU 2 37111216 37111216 single base substitution G A missense_variant P349S 1045C>T MELA-AU 2 37111216 37111216 single base substitution G A splice_region_variant MELA-AU 2 37112149 37112149 single base substitution G A intron_variant MELA-AU 2 37112208 37112208 single base substitution C T intron_variant MELA-AU 2 37114231 37114231 single base substitution G A intron_variant MELA-AU 2 37114493 37114493 single base substitution A C intron_variant MELA-AU 2 37114909 37114909 single base substitution C T intron_variant MELA-AU 2 37115782 37115782 single base substitution A G intron_variant MELA-AU 2 37116877 37116877 single base substitution G A intron_variant MELA-AU 2 37117576 37117576 single base substitution G A intron_variant MELA-AU 2 37118124 37118124 single base substitution G A intron_variant MELA-AU 2 37118274 37118274 single base substitution G A intron_variant MELA-AU 2 37120096 37120096 single base substitution G A intron_variant MELA-AU 2 37120466 37120466 single base substitution G A intron_variant MELA-AU 2 37120522 37120522 single base substitution G A intron_variant MELA-AU 2 37121161 37121161 single base substitution C T exon_variant MELA-AU 2 37121161 37121161 single base substitution C T missense_variant A259T 775G>A MELA-AU 2 37121161 37121161 single base substitution C T missense_variant A271T 811G>A MELA-AU 2 37121206 37121206 single base substitution A T intron_variant MELA-AU 2 37121658 37121658 single base substitution G A intron_variant MELA-AU 2 37121665 37121665 single base substitution C T intron_variant MELA-AU 2 37121752 37121752 single base substitution A T intron_variant MELA-AU 2 37121992 37121992 single base substitution G A intron_variant MELA-AU 2 37121996 37121996 single base substitution G A intron_variant MELA-AU 2 37122193 37122193 single base substitution G A intron_variant MELA-AU 2 37122663 37122663 single base substitution G A intron_variant MELA-AU 2 37122837 37122837 single base substitution G A intron_variant MELA-AU 2 37123014 37123014 single base substitution C G intron_variant MELA-AU 2 37123360 37123360 single base substitution G A intron_variant MELA-AU 2 37125997 37125997 single base substitution G A intron_variant MELA-AU 2 37126002 37126002 single base substitution G A intron_variant MELA-AU 2 37126560 37126560 single base substitution G A intron_variant MELA-AU 2 37126729 37126729 single base substitution G A exon_variant MELA-AU 2 37126729 37126729 single base substitution G A synonymous_variant F232F 696C>T MELA-AU 2 37126729 37126729 single base substitution G A synonymous_variant F244F 732C>T MELA-AU 2 37127355 37127355 single base substitution A G intron_variant MELA-AU 2 37127894 37127894 single base substitution G A intron_variant MELA-AU 2 37128009 37128010 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 37128056 37128056 single base substitution T C intron_variant MELA-AU 2 37128267 37128267 single base substitution A T intron_variant MELA-AU 2 37129249 37129249 single base substitution A G intron_variant MELA-AU 2 37129389 37129389 single base substitution G A intron_variant MELA-AU 2 37131736 37131736 single base substitution G A intron_variant MELA-AU 2 37131736 37131736 single base substitution G A upstream_gene_variant MELA-AU 2 37131738 37131738 single base substitution G A intron_variant MELA-AU 2 37131738 37131738 single base substitution G A upstream_gene_variant MELA-AU 2 37132048 37132048 single base substitution A C intron_variant MELA-AU 2 37132048 37132048 single base substitution A C upstream_gene_variant MELA-AU 2 37132049 37132049 single base substitution A T intron_variant MELA-AU 2 37132049 37132049 single base substitution A T upstream_gene_variant MELA-AU 2 37133432 37133432 single base substitution A G intron_variant MELA-AU 2 37133432 37133432 single base substitution A G upstream_gene_variant MELA-AU 2 37133588 37133588 single base substitution G A intron_variant MELA-AU 2 37133588 37133588 single base substitution G A upstream_gene_variant MELA-AU 2 37133665 37133665 single base substitution G T intron_variant MELA-AU 2 37133665 37133665 single base substitution G T upstream_gene_variant MELA-AU 2 37133835 37133835 single base substitution G A intron_variant MELA-AU 2 37133835 37133835 single base substitution G A upstream_gene_variant MELA-AU 2 37134079 37134079 single base substitution A G intron_variant MELA-AU 2 37134079 37134079 single base substitution A G upstream_gene_variant MELA-AU 2 37134410 37134410 single base substitution G A intron_variant MELA-AU 2 37134410 37134410 single base substitution G A upstream_gene_variant MELA-AU 2 37135187 37135187 single base substitution G A intron_variant MELA-AU 2 37135706 37135706 single base substitution G A intron_variant MELA-AU 2 37136050 37136050 single base substitution G A intron_variant MELA-AU 2 37136557 37136557 single base substitution G A intron_variant MELA-AU 2 37136735 37136735 single base substitution G A intron_variant MELA-AU 2 37136814 37136814 single base substitution G A intron_variant MELA-AU 2 37137079 37137079 single base substitution G A intron_variant MELA-AU 2 37137116 37137116 single base substitution G A intron_variant MELA-AU 2 37137423 37137423 single base substitution G A intron_variant MELA-AU 2 37138043 37138043 single base substitution C T intron_variant MELA-AU 2 37138288 37138288 single base substitution C T intron_variant MELA-AU 2 37139393 37139394 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 2 37141082 37141082 single base substitution A C intron_variant MELA-AU 2 37141407 37141407 single base substitution A G intron_variant MELA-AU 2 37141603 37141603 single base substitution A C intron_variant MELA-AU 2 37141805 37141805 single base substitution G A intron_variant MELA-AU 2 37142108 37142108 single base substitution G A intron_variant MELA-AU 2 37142490 37142490 single base substitution G A intron_variant MELA-AU 2 37143896 37143896 single base substitution G A intron_variant MELA-AU 2 37144181 37144181 single base substitution G A intron_variant MELA-AU 2 37144801 37144801 single base substitution G A intron_variant MELA-AU 2 37144825 37144825 single base substitution G A intron_variant MELA-AU 2 37144969 37144969 single base substitution G T intron_variant MELA-AU 2 37145706 37145706 single base substitution G A intron_variant MELA-AU 2 37146704 37146704 single base substitution G A intron_variant MELA-AU 2 37146778 37146778 single base substitution G A intron_variant MELA-AU 2 37147132 37147133 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 37147244 37147244 single base substitution G A intron_variant MELA-AU 2 37147374 37147376 multiple base substitution (>=2bp and <=200bp) AAA TTT intron_variant MELA-AU 2 37147542 37147542 single base substitution G T intron_variant MELA-AU 2 37147601 37147601 single base substitution G A intron_variant MELA-AU 2 37147730 37147730 single base substitution G A intron_variant MELA-AU 2 37148706 37148706 single base substitution G A intron_variant MELA-AU 2 37148739 37148739 single base substitution G A intron_variant MELA-AU 2 37149174 37149174 single base substitution G A intron_variant MELA-AU 2 37150106 37150106 single base substitution G A intron_variant MELA-AU 2 37150527 37150527 single base substitution G A intron_variant MELA-AU 2 37151273 37151273 single base substitution G A intron_variant MELA-AU 2 37151546 37151546 single base substitution G A intron_variant MELA-AU 2 37151606 37151606 single base substitution G A intron_variant MELA-AU 2 37151617 37151617 single base substitution G A intron_variant MELA-AU 2 37151715 37151715 single base substitution G A intron_variant MELA-AU 2 37153230 37153230 single base substitution G A intron_variant MELA-AU 2 37154058 37154058 single base substitution G A intron_variant MELA-AU 2 37154366 37154366 single base substitution G A intron_variant MELA-AU 2 37154427 37154427 single base substitution G A intron_variant MELA-AU 2 37154609 37154609 single base substitution A G intron_variant MELA-AU 2 37154731 37154731 single base substitution G A intron_variant MELA-AU 2 37154794 37154794 single base substitution G C intron_variant MELA-AU 2 37155056 37155056 single base substitution A G intron_variant MELA-AU 2 37155241 37155241 single base substitution A T intron_variant MELA-AU 2 37155287 37155287 single base substitution G A intron_variant MELA-AU 2 37155451 37155451 single base substitution G A intron_variant MELA-AU 2 37155482 37155482 single base substitution G A intron_variant MELA-AU 2 37155620 37155620 single base substitution C T intron_variant MELA-AU 2 37155864 37155864 single base substitution G A intron_variant MELA-AU 2 37156249 37156249 single base substitution G A intron_variant MELA-AU 2 37156551 37156551 single base substitution G A intron_variant MELA-AU 2 37156870 37156870 single base substitution G A intron_variant MELA-AU 2 37157393 37157393 single base substitution G A intron_variant MELA-AU 2 37157582 37157582 single base substitution A C intron_variant MELA-AU 2 37159060 37159060 single base substitution C G intron_variant MELA-AU 2 37159533 37159533 single base substitution G A intron_variant MELA-AU 2 37159729 37159729 single base substitution G A intron_variant MELA-AU 2 37159794 37159794 single base substitution G A intron_variant MELA-AU 2 37160617 37160617 single base substitution G A intron_variant MELA-AU 2 37160875 37160876 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 37161017 37161017 single base substitution C T intron_variant MELA-AU 2 37161154 37161154 single base substitution C T intron_variant MELA-AU 2 37161473 37161473 single base substitution G A intron_variant MELA-AU 2 37161991 37161991 single base substitution G A intron_variant MELA-AU 2 37161996 37161996 single base substitution G A intron_variant MELA-AU 2 37162207 37162207 single base substitution G A intron_variant MELA-AU 2 37162475 37162475 single base substitution C G intron_variant MELA-AU 2 37162710 37162710 single base substitution G A intron_variant MELA-AU 2 37163254 37163254 single base substitution C T intron_variant MELA-AU 2 37163263 37163263 single base substitution A T intron_variant MELA-AU 2 37164382 37164382 single base substitution G T intron_variant MELA-AU 2 37164561 37164561 single base substitution T C intron_variant MELA-AU 2 37164864 37164864 single base substitution G A intron_variant MELA-AU 2 37165071 37165072 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 37165229 37165229 single base substitution G A intron_variant MELA-AU 2 37165513 37165513 single base substitution G A intron_variant MELA-AU 2 37165903 37165903 single base substitution G A intron_variant MELA-AU 2 37166110 37166110 single base substitution A T intron_variant MELA-AU 2 37166643 37166643 single base substitution C A intron_variant MELA-AU 2 37166663 37166663 single base substitution A C intron_variant MELA-AU 2 37167226 37167226 single base substitution A G intron_variant MELA-AU 2 37167588 37167588 single base substitution A C intron_variant MELA-AU 2 37167907 37167907 single base substitution G A intron_variant MELA-AU 2 37168065 37168065 single base substitution G A intron_variant MELA-AU 2 37168205 37168205 single base substitution G A intron_variant MELA-AU 2 37168309 37168309 single base substitution G A intron_variant MELA-AU 2 37169128 37169128 single base substitution A G intron_variant MELA-AU 2 37169286 37169286 single base substitution G A intron_variant MELA-AU 2 37169933 37169933 single base substitution G A intron_variant MELA-AU 2 37170179 37170179 single base substitution G A intron_variant MELA-AU 2 37170288 37170288 single base substitution G A intron_variant MELA-AU 2 37171207 37171207 single base substitution G A intron_variant MELA-AU 2 37171398 37171398 single base substitution G A intron_variant MELA-AU 2 37171940 37171940 single base substitution C A intron_variant MELA-AU 2 37172073 37172073 single base substitution G A intron_variant MELA-AU 2 37172228 37172228 single base substitution G A intron_variant MELA-AU 2 37172274 37172274 single base substitution G A intron_variant MELA-AU 2 37172319 37172319 single base substitution G A intron_variant MELA-AU 2 37173059 37173059 single base substitution T A intron_variant MELA-AU 2 37173118 37173118 single base substitution G A intron_variant MELA-AU 2 37174021 37174021 single base substitution A C intron_variant MELA-AU 2 37174410 37174410 single base substitution A T intron_variant MELA-AU 2 37175294 37175294 single base substitution G A intron_variant MELA-AU 2 37175564 37175564 single base substitution A G intron_variant MELA-AU 2 37176891 37176891 single base substitution G A intron_variant MELA-AU 2 37178280 37178280 single base substitution G A intron_variant MELA-AU 2 37178323 37178323 single base substitution G A intron_variant MELA-AU 2 37179237 37179237 single base substitution A T intron_variant MELA-AU 2 37179248 37179248 single base substitution G A intron_variant MELA-AU 2 37181549 37181549 single base substitution G A intron_variant MELA-AU 2 37182085 37182085 single base substitution G A intron_variant MELA-AU 2 37182170 37182170 single base substitution C T intron_variant MELA-AU 2 37182481 37182481 single base substitution G A intron_variant MELA-AU 2 37183931 37183931 single base substitution G A intron_variant MELA-AU 2 37184385 37184385 single base substitution C T intron_variant MELA-AU 2 37185910 37185910 single base substitution A G intron_variant MELA-AU 2 37187618 37187618 single base substitution G A intron_variant MELA-AU 2 37188571 37188571 single base substitution C T intron_variant MELA-AU 2 37189524 37189524 single base substitution G A intron_variant MELA-AU 2 37190819 37190819 single base substitution G A intron_variant MELA-AU 2 37191325 37191325 single base substitution G A intron_variant MELA-AU 2 37191764 37191764 single base substitution G A intron_variant MELA-AU 2 37192614 37192614 single base substitution C T intron_variant MELA-AU 2 37192784 37192784 single base substitution G A intron_variant MELA-AU 2 37194973 37194973 single base substitution G A upstream_gene_variant MELA-AU 2 37195649 37195649 single base substitution G A upstream_gene_variant MELA-AU 2 37195965 37195965 single base substitution G A upstream_gene_variant MELA-AU 2 37196268 37196268 single base substitution G A upstream_gene_variant MELA-AU 2 37196301 37196301 single base substitution A T upstream_gene_variant MELA-AU 2 37196735 37196735 single base substitution A C upstream_gene_variant MELA-AU 2 37197151 37197151 single base substitution A T upstream_gene_variant MELA-AU 2 37197494 37197494 single base substitution A C upstream_gene_variant MELA-AU 2 37197903 37197903 single base substitution G A upstream_gene_variant MELA-AU 2 37198393 37198393 single base substitution G A upstream_gene_variant MELA-AU 2 37198491 37198491 single base substitution C T upstream_gene_variant MELA-AU 2 37198501 37198501 single base substitution A T upstream_gene_variant ORCA-IN 2 37082404 37082404 single base substitution G T missense_variant N594K 1782C>A ORCA-IN 2 37082404 37082404 single base substitution G T missense_variant N643K 1929C>A ORCA-IN 2 37084616 37084616 single base substitution C A intron_variant ORCA-IN 2 37084710 37084710 single base substitution G A intron_variant ORCA-IN 2 37114197 37114197 single base substitution C G intron_variant ORCA-IN 2 37177127 37177127 single base substitution G A intron_variant ORCA-IN 2 37181659 37181659 insertion of <=200bp - G intron_variant ORCA-IN 2 37186266 37186266 single base substitution G C intron_variant ORCA-IN 2 37191032 37191032 single base substitution T G intron_variant OV-AU 2 37071105 37071105 single base substitution A T 3_prime_UTR_variant OV-AU 2 37071105 37071105 single base substitution A T downstream_gene_variant OV-AU 2 37080817 37080817 single base substitution C G intron_variant OV-AU 2 37083493 37083493 single base substitution T C intron_variant OV-AU 2 37089699 37089699 single base substitution A C intron_variant OV-AU 2 37091753 37091753 single base substitution A G intron_variant OV-AU 2 37093244 37093244 single base substitution C A downstream_gene_variant OV-AU 2 37093244 37093244 single base substitution C A intron_variant OV-AU 2 37097033 37097033 single base substitution A C intron_variant OV-AU 2 37106330 37106330 single base substitution C G intron_variant OV-AU 2 37110467 37110467 single base substitution G T intron_variant OV-AU 2 37122575 37122575 single base substitution T C intron_variant OV-AU 2 37125813 37125813 single base substitution G A intron_variant OV-AU 2 37131357 37131357 single base substitution G C intron_variant OV-AU 2 37131357 37131357 single base substitution G C upstream_gene_variant OV-AU 2 37134866 37134866 single base substitution T C intron_variant OV-AU 2 37134866 37134866 single base substitution T C upstream_gene_variant OV-AU 2 37135097 37135097 single base substitution A C intron_variant OV-AU 2 37138456 37138456 single base substitution C G intron_variant OV-AU 2 37138897 37138897 single base substitution C T intron_variant OV-AU 2 37139889 37139889 single base substitution G C intron_variant OV-AU 2 37146464 37146464 single base substitution T C intron_variant OV-AU 2 37149043 37149043 single base substitution A G intron_variant OV-AU 2 37156145 37156145 single base substitution T C intron_variant OV-AU 2 37160228 37160228 single base substitution C T intron_variant OV-AU 2 37167712 37167712 single base substitution T A intron_variant OV-AU 2 37178117 37178117 single base substitution A T intron_variant OV-AU 2 37180665 37180665 single base substitution C T intron_variant OV-AU 2 37186483 37186483 single base substitution G C intron_variant OV-AU 2 37188854 37188854 single base substitution C T intron_variant OV-AU 2 37188990 37188990 single base substitution C T intron_variant PACA-AU 2 37075381 37075381 single base substitution G A 3_prime_UTR_variant PACA-AU 2 37075381 37075381 single base substitution G A downstream_gene_variant PACA-AU 2 37075602 37075605 deletion of <=200bp AAGA - 3_prime_UTR_variant PACA-AU 2 37076751 37076751 single base substitution G T missense_variant R682S 2044C>A PACA-AU 2 37076751 37076751 single base substitution G T missense_variant R731S 2191C>A PACA-AU 2 37077306 37077306 single base substitution C G intron_variant PACA-AU 2 37081707 37081707 single base substitution C T intron_variant PACA-AU 2 37084211 37084211 single base substitution G A intron_variant PACA-AU 2 37087566 37087566 insertion of <=200bp - T intron_variant PACA-AU 2 37088131 37088131 single base substitution G T intron_variant PACA-AU 2 37089008 37089008 single base substitution C T intron_variant PACA-AU 2 37090832 37090832 single base substitution T C intron_variant PACA-AU 2 37105051 37105051 single base substitution C T exon_variant PACA-AU 2 37105051 37105051 single base substitution C T missense_variant D387N 1159G>A PACA-AU 2 37105051 37105051 single base substitution C T missense_variant D436N 1306G>A PACA-AU 2 37105745 37105745 single base substitution T C intron_variant PACA-AU 2 37106304 37106304 single base substitution C A intron_variant PACA-AU 2 37106305 37106305 single base substitution C A intron_variant PACA-AU 2 37107381 37107381 single base substitution G A intron_variant PACA-AU 2 37109672 37109672 single base substitution G C intron_variant PACA-AU 2 37109679 37109679 single base substitution G A intron_variant PACA-AU 2 37109961 37109961 single base substitution C A intron_variant PACA-AU 2 37120695 37120695 single base substitution A T intron_variant PACA-AU 2 37129010 37129010 single base substitution G C intron_variant PACA-AU 2 37129726 37129726 single base substitution C T splice_donor_variant PACA-AU 2 37139441 37139441 single base substitution G C intron_variant PACA-AU 2 37142509 37142509 single base substitution C T intron_variant PACA-AU 2 37144974 37144974 deletion of <=200bp A - intron_variant PACA-AU 2 37145703 37145703 single base substitution A G intron_variant PACA-AU 2 37149373 37149373 deletion of <=200bp T - intron_variant PACA-AU 2 37151546 37151546 single base substitution G A intron_variant PACA-AU 2 37166927 37166927 single base substitution A T intron_variant PACA-AU 2 37167810 37167810 single base substitution A C intron_variant PACA-AU 2 37167906 37167906 single base substitution C T intron_variant PACA-AU 2 37168064 37168064 single base substitution G T intron_variant PACA-AU 2 37172734 37172734 single base substitution A G intron_variant PACA-AU 2 37183720 37183720 single base substitution A C intron_variant PACA-AU 2 37185689 37185689 single base substitution C G intron_variant PACA-AU 2 37191421 37191421 single base substitution T G intron_variant PACA-AU 2 37192095 37192113 deletion of <=200bp AGGTTAAAGGATTTCCTCA - intron_variant PACA-AU 2 37193563 37193563 single base substitution T G missense_variant H15P 44A>C PACA-CA 2 37072521 37072521 single base substitution A T 3_prime_UTR_variant PACA-CA 2 37072521 37072521 single base substitution A T downstream_gene_variant PACA-CA 2 37081185 37081185 single base substitution C T intron_variant PACA-CA 2 37083176 37083176 single base substitution G A intron_variant PACA-CA 2 37088517 37088517 single base substitution T A intron_variant PACA-CA 2 37090436 37090436 insertion of <=200bp - T intron_variant PACA-CA 2 37092971 37092971 single base substitution G A downstream_gene_variant PACA-CA 2 37092971 37092971 single base substitution G A intron_variant PACA-CA 2 37095909 37095909 single base substitution T C downstream_gene_variant PACA-CA 2 37095909 37095909 single base substitution T C intron_variant PACA-CA 2 37099895 37099895 single base substitution G T intron_variant PACA-CA 2 37103046 37103046 single base substitution C T intron_variant PACA-CA 2 37105679 37105679 single base substitution G A intron_variant PACA-CA 2 37106597 37106597 single base substitution C A intron_variant PACA-CA 2 37108356 37108356 single base substitution C T intron_variant PACA-CA 2 37108717 37108717 insertion of <=200bp - T intron_variant PACA-CA 2 37109794 37109794 single base substitution C A intron_variant PACA-CA 2 37112052 37112052 single base substitution G C intron_variant PACA-CA 2 37114453 37114453 single base substitution T A intron_variant PACA-CA 2 37114647 37114647 single base substitution C T intron_variant PACA-CA 2 37115219 37115219 single base substitution C T intron_variant PACA-CA 2 37117195 37117195 single base substitution C T intron_variant PACA-CA 2 37118423 37118423 single base substitution G A intron_variant PACA-CA 2 37119514 37119514 single base substitution G A intron_variant PACA-CA 2 37124745 37124745 insertion of <=200bp - T intron_variant PACA-CA 2 37125583 37125583 single base substitution A G intron_variant PACA-CA 2 37125993 37125993 single base substitution G C intron_variant PACA-CA 2 37126235 37126235 insertion of <=200bp - T intron_variant PACA-CA 2 37127315 37127315 single base substitution G A intron_variant PACA-CA 2 37129388 37129388 single base substitution C T intron_variant PACA-CA 2 37129804 37129804 single base substitution C T exon_variant PACA-CA 2 37129804 37129804 single base substitution C T synonymous_variant T182T 546G>A PACA-CA 2 37129804 37129804 single base substitution C T synonymous_variant T194T 582G>A PACA-CA 2 37134632 37134632 single base substitution A T intron_variant PACA-CA 2 37134632 37134632 single base substitution A T upstream_gene_variant PACA-CA 2 37137526 37137526 insertion of <=200bp - A intron_variant PACA-CA 2 37144989 37144989 single base substitution T C intron_variant PACA-CA 2 37148660 37148660 single base substitution T G intron_variant PACA-CA 2 37151331 37151331 single base substitution C T intron_variant PACA-CA 2 37151546 37151546 single base substitution G A intron_variant PACA-CA 2 37151561 37151561 single base substitution T A intron_variant PACA-CA 2 37153389 37153389 single base substitution G T intron_variant PACA-CA 2 37156620 37156620 single base substitution A G intron_variant PACA-CA 2 37157044 37157044 single base substitution T C intron_variant PACA-CA 2 37160228 37160228 single base substitution C T intron_variant PACA-CA 2 37160229 37160230 deletion of <=200bp AT - intron_variant PACA-CA 2 37162257 37162257 single base substitution A T intron_variant PACA-CA 2 37166700 37166700 single base substitution A T intron_variant PACA-CA 2 37169966 37169966 single base substitution G A intron_variant PACA-CA 2 37170329 37170329 deletion of <=200bp A - intron_variant PACA-CA 2 37170808 37170810 deletion of <=200bp GTG - intron_variant PACA-CA 2 37177579 37177579 single base substitution G A intron_variant PACA-CA 2 37182764 37182764 single base substitution G T intron_variant PACA-CA 2 37183881 37183881 single base substitution A C intron_variant PACA-CA 2 37189684 37189684 single base substitution T C intron_variant PACA-CA 2 37196878 37196878 single base substitution C T upstream_gene_variant PACA-CA 2 37197637 37197637 insertion of <=200bp - TATA upstream_gene_variant PACA-CA 2 37198583 37198583 single base substitution G A upstream_gene_variant PAEN-AU 2 37078661 37078661 single base substitution T C intron_variant PAEN-AU 2 37112339 37112339 single base substitution T C intron_variant PAEN-AU 2 37156682 37156682 single base substitution C T intron_variant PAEN-IT 2 37082613 37082613 single base substitution T C intron_variant PBCA-DE 2 37066382 37066382 deletion of <=200bp T - downstream_gene_variant PBCA-DE 2 37070808 37070808 single base substitution C A 3_prime_UTR_variant PBCA-DE 2 37070808 37070808 single base substitution C A downstream_gene_variant PBCA-DE 2 37071667 37071667 single base substitution G C 3_prime_UTR_variant PBCA-DE 2 37071667 37071667 single base substitution G C downstream_gene_variant PBCA-DE 2 37107110 37107110 deletion of <=200bp A - intron_variant PBCA-DE 2 37107349 37107349 single base substitution G A intron_variant PBCA-DE 2 37117973 37117973 single base substitution C A intron_variant PBCA-DE 2 37121972 37121972 insertion of <=200bp - G intron_variant PBCA-DE 2 37123995 37123995 single base substitution G A intron_variant PBCA-DE 2 37144107 37144109 deletion of <=200bp CTA - intron_variant PBCA-DE 2 37167589 37167589 single base substitution A G intron_variant PBCA-DE 2 37179199 37179200 deletion of <=200bp CA - intron_variant PBCA-DE 2 37185783 37185783 deletion of <=200bp A - intron_variant PBCA-DE 2 37186920 37186920 insertion of <=200bp - A intron_variant PBCA-DE 2 37190574 37190574 single base substitution T C intron_variant PBCA-DE 2 37191142 37191142 deletion of <=200bp A - intron_variant PBCA-DE 2 37193733 37193733 single base substitution G T upstream_gene_variant PBCA-DE 2 37194042 37194043 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 2 37196543 37196543 single base substitution G T upstream_gene_variant PBCA-DE 2 37197782 37197782 single base substitution G A upstream_gene_variant PBCA-DE 2 37198175 37198175 insertion of <=200bp - TT upstream_gene_variant PRAD-CA 2 37103428 37103428 single base substitution A T intron_variant PRAD-CA 2 37121703 37121703 single base substitution A C intron_variant PRAD-CA 2 37124037 37124037 single base substitution G A intron_variant PRAD-CA 2 37124588 37124588 single base substitution A T intron_variant PRAD-CA 2 37154609 37154609 single base substitution A G intron_variant PRAD-CA 2 37168205 37168205 single base substitution G A intron_variant PRAD-CA 2 37185871 37185871 single base substitution C A intron_variant PRAD-CA 2 37190505 37190505 single base substitution T A intron_variant PRAD-CA 2 37197095 37197095 single base substitution G A upstream_gene_variant PRAD-UK 2 37078116 37078116 single base substitution A G intron_variant PRAD-UK 2 37100363 37100363 deletion of <=200bp A - intron_variant PRAD-UK 2 37121972 37121972 insertion of <=200bp - G intron_variant PRAD-UK 2 37124512 37124512 single base substitution A C intron_variant PRAD-UK 2 37131776 37131776 deletion of <=200bp C - intron_variant PRAD-UK 2 37131776 37131776 deletion of <=200bp C - upstream_gene_variant PRAD-UK 2 37132745 37132745 single base substitution T A synonymous_variant T131T 393A>T PRAD-UK 2 37132745 37132745 single base substitution T A synonymous_variant T143T 429A>T PRAD-UK 2 37132745 37132745 single base substitution T A upstream_gene_variant PRAD-UK 2 37154398 37154398 deletion of <=200bp A - intron_variant PRAD-UK 2 37154675 37154675 single base substitution G T intron_variant PRAD-UK 2 37156256 37156256 single base substitution T A intron_variant PRAD-UK 2 37156284 37156284 insertion of <=200bp - TAGA intron_variant PRAD-UK 2 37156443 37156443 insertion of <=200bp - TATT intron_variant PRAD-UK 2 37156527 37156527 deletion of <=200bp C - intron_variant PRAD-UK 2 37158759 37158759 single base substitution A C intron_variant PRAD-UK 2 37166490 37166490 single base substitution C T intron_variant PRAD-UK 2 37176166 37176166 single base substitution A G intron_variant PRAD-UK 2 37177661 37177661 single base substitution T A intron_variant PRAD-UK 2 37178699 37178699 single base substitution G C intron_variant PRAD-UK 2 37182431 37182431 single base substitution C A intron_variant PRAD-UK 2 37195602 37195602 single base substitution C T upstream_gene_variant PRAD-UK 2 37198420 37198420 single base substitution G A upstream_gene_variant READ-US 2 37111091 37111091 single base substitution A C exon_variant READ-US 2 37111091 37111091 single base substitution A C missense_variant I341M 1023T>G READ-US 2 37111091 37111091 single base substitution A C missense_variant I390M 1170T>G RECA-EU 2 37070033 37070033 single base substitution T C downstream_gene_variant RECA-EU 2 37078036 37078036 single base substitution C T intron_variant RECA-EU 2 37081351 37081351 single base substitution T A intron_variant RECA-EU 2 37089702 37089702 single base substitution A C intron_variant RECA-EU 2 37123195 37123195 single base substitution C A intron_variant RECA-EU 2 37147974 37147974 single base substitution C T intron_variant RECA-EU 2 37149683 37149683 single base substitution A T intron_variant RECA-EU 2 37150867 37150867 single base substitution A T intron_variant RECA-EU 2 37153981 37153981 single base substitution G T intron_variant RECA-EU 2 37181477 37181477 single base substitution A T intron_variant RECA-EU 2 37190547 37190547 single base substitution C A intron_variant RECA-EU 2 37195397 37195397 single base substitution G T upstream_gene_variant RECA-EU 2 37196922 37196922 single base substitution C T upstream_gene_variant SKCA-BR 2 37068638 37068638 single base substitution G A downstream_gene_variant SKCA-BR 2 37068910 37068910 single base substitution G A downstream_gene_variant SKCA-BR 2 37071183 37071183 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 37071183 37071183 single base substitution G A downstream_gene_variant SKCA-BR 2 37076324 37076324 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 37082485 37082485 single base substitution G A synonymous_variant I567I 1701C>T SKCA-BR 2 37082485 37082485 single base substitution G A synonymous_variant I616I 1848C>T SKCA-BR 2 37088644 37088644 single base substitution G A intron_variant SKCA-BR 2 37095403 37095403 single base substitution T A downstream_gene_variant SKCA-BR 2 37095403 37095403 single base substitution T A intron_variant SKCA-BR 2 37100189 37100189 single base substitution A C intron_variant SKCA-BR 2 37101869 37101869 single base substitution A C intron_variant SKCA-BR 2 37102620 37102620 single base substitution T C intron_variant SKCA-BR 2 37102765 37102765 single base substitution G A intron_variant SKCA-BR 2 37111045 37111045 single base substitution T A intron_variant SKCA-BR 2 37112485 37112485 single base substitution C T intron_variant SKCA-BR 2 37123383 37123383 single base substitution T C intron_variant SKCA-BR 2 37124579 37124579 single base substitution T A intron_variant SKCA-BR 2 37128603 37128603 single base substitution G A intron_variant SKCA-BR 2 37133222 37133222 single base substitution G A intron_variant SKCA-BR 2 37133222 37133222 single base substitution G A upstream_gene_variant SKCA-BR 2 37134082 37134082 insertion of <=200bp - CA intron_variant SKCA-BR 2 37134082 37134082 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 37136141 37136141 insertion of <=200bp - GAAA intron_variant SKCA-BR 2 37138565 37138565 single base substitution C T intron_variant SKCA-BR 2 37141033 37141033 single base substitution G C intron_variant SKCA-BR 2 37144195 37144195 single base substitution T A intron_variant SKCA-BR 2 37152708 37152708 single base substitution T G intron_variant SKCA-BR 2 37152771 37152771 single base substitution T A intron_variant SKCA-BR 2 37154301 37154301 single base substitution A G intron_variant SKCA-BR 2 37154609 37154609 single base substitution A G intron_variant SKCA-BR 2 37154670 37154670 single base substitution G A intron_variant SKCA-BR 2 37155862 37155862 single base substitution T G intron_variant SKCA-BR 2 37156404 37156404 single base substitution G A intron_variant SKCA-BR 2 37161256 37161256 insertion of <=200bp - GA intron_variant SKCA-BR 2 37162968 37162968 single base substitution A G intron_variant SKCA-BR 2 37164804 37164804 single base substitution G A intron_variant SKCA-BR 2 37167306 37167306 single base substitution G A intron_variant SKCA-BR 2 37167979 37167990 deletion of <=200bp CAAAAAAAAAAA - intron_variant SKCA-BR 2 37168916 37168916 single base substitution G A intron_variant SKCA-BR 2 37171689 37171689 single base substitution C T intron_variant SKCA-BR 2 37172573 37172573 single base substitution G A intron_variant SKCA-BR 2 37174063 37174063 single base substitution G A intron_variant SKCA-BR 2 37177003 37177003 single base substitution G A intron_variant SKCA-BR 2 37177787 37177787 single base substitution A C intron_variant SKCA-BR 2 37181663 37181663 single base substitution G A intron_variant SKCA-BR 2 37184149 37184149 single base substitution G A intron_variant SKCA-BR 2 37184887 37184887 single base substitution C T intron_variant SKCA-BR 2 37188258 37188268 deletion of <=200bp CTTTTTTTTTT - intron_variant SKCA-BR 2 37188523 37188523 single base substitution A C intron_variant SKCA-BR 2 37189020 37189020 single base substitution A G intron_variant SKCA-BR 2 37191141 37191141 single base substitution G A intron_variant SKCA-BR 2 37193366 37193366 single base substitution T G intron_variant SKCA-BR 2 37193366 37193366 single base substitution T G splice_region_variant SKCA-BR 2 37193482 37193482 single base substitution G C missense_variant A30G 89C>G SKCA-BR 2 37193482 37193482 single base substitution G C missense_variant A42G 125C>G SKCA-BR 2 37196931 37196931 single base substitution G A upstream_gene_variant SKCM-US 2 37076662 37076662 single base substitution G A synonymous_variant F711F 2133C>T SKCM-US 2 37076662 37076662 single base substitution G A synonymous_variant F760F 2280C>T SKCM-US 2 37076681 37076681 single base substitution G A missense_variant S705L 2114C>T SKCM-US 2 37076681 37076681 single base substitution G A missense_variant S754L 2261C>T SKCM-US 2 37085021 37085021 single base substitution T A synonymous_variant L556L 1668A>T SKCM-US 2 37085021 37085021 single base substitution T A synonymous_variant L605L 1815A>T SKCM-US 2 37085036 37085036 single base substitution C T synonymous_variant E551E 1653G>A SKCM-US 2 37085036 37085036 single base substitution C T synonymous_variant E600E 1800G>A SKCM-US 2 37096793 37096793 single base substitution G A downstream_gene_variant SKCM-US 2 37096793 37096793 single base substitution G A missense_variant A419V 1256C>T SKCM-US 2 37096793 37096793 single base substitution G A missense_variant A468V 1403C>T SKCM-US 2 37105036 37105036 single base substitution C T missense_variant D392N 1174G>A SKCM-US 2 37105036 37105036 single base substitution C T missense_variant D441N 1321G>A SKCM-US 2 37105036 37105036 single base substitution C T splice_region_variant SKCM-US 2 37105106 37105106 single base substitution A T exon_variant SKCM-US 2 37105106 37105106 single base substitution A T synonymous_variant L368L 1104T>A SKCM-US 2 37105106 37105106 single base substitution A T synonymous_variant L417L 1251T>A SKCM-US 2 37105142 37105144 deletion of <=200bp AGA - exon_variant SKCM-US 2 37105142 37105144 deletion of <=200bp AGA - inframe_deletion S356 SKCM-US 2 37105142 37105144 deletion of <=200bp AGA - inframe_deletion S405 SKCM-US 2 37105146 37105146 single base substitution G A exon_variant SKCM-US 2 37105146 37105146 single base substitution G A missense_variant S355F 1064C>T SKCM-US 2 37105146 37105146 single base substitution G A missense_variant S404F 1211C>T SKCM-US 2 37111138 37111138 single base substitution C A exon_variant SKCM-US 2 37111138 37111138 single base substitution C A missense_variant G326C 976G>T SKCM-US 2 37111138 37111138 single base substitution C A missense_variant G375C 1123G>T SKCM-US 2 37111155 37111155 single base substitution G A exon_variant SKCM-US 2 37111155 37111155 single base substitution G A missense_variant S320L 959C>T SKCM-US 2 37111155 37111155 single base substitution G A missense_variant S369L 1106C>T SKCM-US 2 37111159 37111159 single base substitution G A exon_variant SKCM-US 2 37111159 37111159 single base substitution G A missense_variant P319S 955C>T SKCM-US 2 37111159 37111159 single base substitution G A missense_variant P368S 1102C>T SKCM-US 2 37152297 37152297 single base substitution C T missense_variant D85N 253G>A SKCM-US 2 37152297 37152297 single base substitution C T missense_variant D97N 289G>A SKCM-US 2 37152304 37152304 single base substitution C T synonymous_variant L82L 246G>A SKCM-US 2 37152304 37152304 single base substitution C T synonymous_variant L94L 282G>A STAD-US 2 37076751 37076751 single base substitution G A missense_variant R682C 2044C>T STAD-US 2 37076751 37076751 single base substitution G A missense_variant R731C 2191C>T STAD-US 2 37076914 37076914 single base substitution G T missense_variant L657I 1969C>A STAD-US 2 37076914 37076914 single base substitution G T missense_variant L706I 2116C>A STAD-US 2 37076928 37076928 single base substitution G A missense_variant S652L 1955C>T STAD-US 2 37076928 37076928 single base substitution G A missense_variant S701L 2102C>T STAD-US 2 37082457 37082457 single base substitution C T missense_variant D577N 1729G>A STAD-US 2 37082457 37082457 single base substitution C T missense_variant D626N 1876G>A STAD-US 2 37088308 37088308 single base substitution T A missense_variant T497S 1489A>T STAD-US 2 37088308 37088308 single base substitution T A missense_variant T546S 1636A>T STAD-US 2 37096829 37096829 single base substitution T G downstream_gene_variant STAD-US 2 37096829 37096829 single base substitution T G missense_variant K407T 1220A>C STAD-US 2 37096829 37096829 single base substitution T G missense_variant K456T 1367A>C STAD-US 2 37096869 37096872 deletion of <=200bp CTAT - frameshift_variant IA393 STAD-US 2 37096869 37096872 deletion of <=200bp CTAT - frameshift_variant IA442 STAD-US 2 37096869 37096872 deletion of <=200bp CTAT - splice_region_variant STAD-US 2 37113870 37113870 single base substitution T C exon_variant STAD-US 2 37113870 37113870 single base substitution T C intron_variant STAD-US 2 37113870 37113870 single base substitution T C missense_variant K344R 1031A>G STAD-US 2 37113874 37113874 single base substitution T C exon_variant STAD-US 2 37113874 37113874 single base substitution T C intron_variant STAD-US 2 37113874 37113874 single base substitution T C missense_variant K343E 1027A>G STAD-US 2 37126678 37126678 single base substitution A G exon_variant STAD-US 2 37126678 37126678 single base substitution A G synonymous_variant I249I 747T>C STAD-US 2 37126678 37126678 single base substitution A G synonymous_variant I261I 783T>C STAD-US 2 37129804 37129804 single base substitution C T exon_variant STAD-US 2 37129804 37129804 single base substitution C T synonymous_variant T182T 546G>A STAD-US 2 37129804 37129804 single base substitution C T synonymous_variant T194T 582G>A STAD-US 2 37132704 37132704 single base substitution T C missense_variant Q145R 434A>G STAD-US 2 37132704 37132704 single base substitution T C missense_variant Q157R 470A>G STAD-US 2 37132704 37132704 single base substitution T C upstream_gene_variant STAD-US 2 37152306 37152306 single base substitution A C missense_variant L82V 244T>G STAD-US 2 37152306 37152306 single base substitution A C missense_variant L94V 280T>G THCA-SA 2 37076474 37076474 single base substitution T C 3_prime_UTR_variant THCA-SA 2 37193438 37193438 deletion of <=200bp G - frameshift_variant Q45 THCA-SA 2 37193438 37193438 deletion of <=200bp G - frameshift_variant Q57 THCA-US 2 37088300 37088300 single base substitution G C synonymous_variant P499P 1497C>G THCA-US 2 37088300 37088300 single base substitution G C synonymous_variant P548P 1644C>G UCEC-US 2 37076610 37076610 single base substitution C A missense_variant V729F 2185G>T UCEC-US 2 37076610 37076610 single base substitution C A missense_variant V778F 2332G>T UCEC-US 2 37076644 37076644 single base substitution A C stop_gained Y717* 2151T>G UCEC-US 2 37076644 37076644 single base substitution A C stop_gained Y766* 2298T>G UCEC-US 2 37076705 37076705 single base substitution G T missense_variant A697D 2090C>A UCEC-US 2 37076705 37076705 single base substitution G T missense_variant A746D 2237C>A UCEC-US 2 37076877 37076877 single base substitution C T missense_variant G669D 2006G>A UCEC-US 2 37076877 37076877 single base substitution C T missense_variant G718D 2153G>A UCEC-US 2 37076884 37076884 single base substitution G A missense_variant P667S 1999C>T UCEC-US 2 37076884 37076884 single base substitution G A missense_variant P716S 2146C>T UCEC-US 2 37082373 37082373 single base substitution C A stop_gained E605* 1813G>T UCEC-US 2 37082373 37082373 single base substitution C A stop_gained E654* 1960G>T UCEC-US 2 37096755 37096755 single base substitution C A downstream_gene_variant UCEC-US 2 37096755 37096755 single base substitution C A missense_variant A432S 1294G>T UCEC-US 2 37096755 37096755 single base substitution C A missense_variant A481S 1441G>T UCEC-US 2 37105036 37105036 single base substitution C T missense_variant D392N 1174G>A UCEC-US 2 37105036 37105036 single base substitution C T missense_variant D441N 1321G>A UCEC-US 2 37105036 37105036 single base substitution C T splice_region_variant UCEC-US 2 37111077 37111077 single base substitution T C missense_variant E346G 1037A>G UCEC-US 2 37111077 37111077 single base substitution T C missense_variant E395G 1184A>G UCEC-US 2 37111077 37111077 single base substitution T C splice_region_variant UCEC-US 2 37126713 37126713 single base substitution C T exon_variant UCEC-US 2 37126713 37126713 single base substitution C T missense_variant D238N 712G>A UCEC-US 2 37126713 37126713 single base substitution C T missense_variant D250N 748G>A UCEC-US 2 37126772 37126772 single base substitution A G exon_variant UCEC-US 2 37126772 37126772 single base substitution A G missense_variant V218A 653T>C UCEC-US 2 37126772 37126772 single base substitution A G missense_variant V230A 689T>C UCEC-US 2 37152248 37152248 single base substitution C A missense_variant R101I 302G>T UCEC-US 2 37152248 37152248 single base substitution C A missense_variant R113I 338G>T UCEC-US 2 37193439 37193439 single base substitution C T synonymous_variant L44L 132G>A UCEC-US 2 37193439 37193439 single base substitution C T synonymous_variant L56L 168G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1725T COSM4800642 c.1656C>T p.P552P Substitution - coding silent 2:36861145-36861145 - T3058 COSM4730675 c.2103G>A p.S701S Substitution - coding silent 2:36849784-36849784 - T2269 COSM4730677 c.870C>A p.F290L Substitution - Missense 2:36893959-36893959 - CSCC-60-T COSM4553194 c.583G>A p.D195N Substitution - Missense 2:36902660-36902660 - TCGA-EB-A3Y6-01 COSM3581394 c.2261C>T p.S754L Substitution - Missense 2:36849538-36849538 - D28 COSM5545898 c.898G>A p.E300K Substitution - Missense 2:36893931-36893931 - TCGA-F5-6814-01 COSM3426414 c.1170T>G p.I390M Substitution - Missense 2:36883948-36883948 - 587376 COSM1227932 c.2236G>A p.A746T Substitution - Missense 2:36849563-36849563 - TCGA-B5-A11E-01 COSM1020643 c.689T>C p.V230A Substitution - Missense 2:36899629-36899629 - CHC1725T COSM4800642 c.1656C>T p.P552P Substitution - coding silent 2:36861145-36861145 - TCGA-D8-A1XK-01 COSM3839469 c.510T>C p.G170G Substitution - coding silent 2:36902733-36902733 - PCSI_0083_Pa_X COSM1407938 c.582G>A p.T194T Substitution - coding silent 2:36902661-36902661 - CSCC-10-T COSM4539389 c.267G>A p.K89K Substitution - coding silent 2:36925176-36925176 - T3225 COSM4730679 c.302G>T p.R101M Substitution - Missense 2:36925141-36925141 - CSCC-40-T COSM4519171 c.1174_1175AG>GA p.R392E Substitution - Missense 2:36883943-36883944 - TCGA-EE-A3JI-06 COSM3581393 c.2280C>T p.F760F Substitution - coding silent 2:36849519-36849519 - 587284 COSM1227930 c.1580A>G p.N527S Substitution - Missense 2:36861221-36861221 - HCC76T COSM1614817 c.74G>T p.G25V Substitution - Missense 2:36966390-36966390 - CCK81 COSM2943559 c.2262G>A p.S754S Substitution - coding silent 2:36849537-36849537 - 2530678 COSM5885668 c.676G>C p.D226H Substitution - Missense 2:36899642-36899642 - PD9575a COSM5801073 c.641_642insA p.E215fs*9 Insertion - Frameshift 2:36902601-36902602 - 0038_CRUK_PC_0038_T1_DNA COSM5422999 c.429A>T p.T143T Substitution - coding silent 2:36905602-36905602 - Pat_45_B COSM5862482 c.1217G>A p.G406E Substitution - Missense 2:36877997-36877997 - TCGA-A8-A06X-01 COSM442866 c.799G>A p.V267I Substitution - Missense 2:36894030-36894030 - TCGA-AP-A051-01 COSM1020644 c.338G>T p.R113I Substitution - Missense 2:36925105-36925105 - ESO-0129 COSM1266979 c.189C>A p.F63L Substitution - Missense 2:36966275-36966275 - TCGA-FE-A23A-01 COSM3372769 c.1644C>G p.P548P Substitution - coding silent 2:36861157-36861157 - DU-145 COSM1668845 c.1706C>T p.T569M Substitution - Missense 2:36857987-36857987 - TCGA-AN-A0FY-01 COSM442864 c.1707G>A p.T569T Substitution - coding silent 2:36857986-36857986 - CHC892T COSM4959110 c.1852G>A p.A618T Substitution - Missense 2:36855338-36855338 - SCA14 COSM248692 c.244G>A p.A82T Substitution - Missense 2:36925199-36925199 - TCGA-D1-A17Q-01 COSM1020633 c.2332G>T p.V778F Substitution - Missense 2:36849467-36849467 - TCGA-34-5236-01 COSM721089 c.1380A>C p.R460S Substitution - Missense 2:36869673-36869673 - T3262 COSM4730676 c.1034G>T p.G345V Substitution - Missense 2:36886724-36886724 - PTC_355 COSM5958125 c.169delC p.Q57fs*38 Deletion - Frameshift 2:36966295-36966295 - TCGA-HU-A4GT-01 COSM4094052 c.2116C>A p.L706I Substitution - Missense 2:36849771-36849771 - CRC-02T COSM1407938 c.582G>A p.T194T Substitution - coding silent 2:36902661-36902661 - 585276 COSM323655 c.487A>G p.R163G Substitution - Missense 2:36905544-36905544 - 61 COSM5736011 c.2190A>G p.I730M Substitution - Missense 2:36849609-36849609 - TCGA-BR-8680-01 COSM4094061 c.280T>G p.L94V Substitution - Missense 2:36925163-36925163 - PACA70 COSM1158314 c.659+1G>A p.? Unknown 2:36902583-36902583 - TCGA-FD-A3B3-01 COSM1306771 c.1217G>C p.G406A Substitution - Missense 2:36877997-36877997 - CSCC-41-T COSM4532173 c.1861G>A p.D621N Substitution - Missense 2:36855329-36855329 - TCGA-BR-8486-01 COSM4094054 c.1876G>A p.D626N Substitution - Missense 2:36855314-36855314 - TCGA-DA-A1IC-06 COSM3910292 c.289G>A p.D97N Substitution - Missense 2:36925154-36925154 - TCGA-BS-A0UF-01 COSM1020637 c.2146C>T p.P716S Substitution - Missense 2:36849741-36849741 - TCGA-HU-A4G8-01 COSM4094051 c.2191C>T p.R731C Substitution - Missense 2:36849608-36849608 - ME100L COSM230909 c.1530T>A p.Y510* Substitution - Nonsense 2:36867831-36867831 - ESO01T COSM1172869 c.905_906delGA p.R302fs*18 Deletion - Frameshift 2:36893923-36893924 - LUAD-2GUGK COSM400566 c.1837+2T>C p.? Unknown 2:36857854-36857854 - TCGA-HF-7132-01 COSM4094058 c.1027A>G p.K343E Substitution - Missense 2:36886731-36886731 - LUAD-CHTN-3090346 COSM356899 c.1626C>T p.G542G Substitution - coding silent 2:36861175-36861175 - ccRCC-28 COSM1665784 c.731delT p.F244fs*42 Deletion - Frameshift 2:36899587-36899587 - HCC004T COSM4313016 c.252G>A p.L84L Substitution - coding silent 2:36925191-36925191 - CSCC-49-T COSM4468429 c.1543C>T p.H515Y Substitution - Missense 2:36867818-36867818 - TCGA-HU-A4H4-01 COSM4094059 c.783T>C p.I261I Substitution - coding silent 2:36899535-36899535 - ESCC_BICR_016T COSM5439565 c.2033T>G p.I678S Substitution - Missense 2:36851053-36851053 - HN_63081 COSM126945 c.550C>T p.R184* Substitution - Nonsense 2:36902693-36902693 - TCGA-G9-6332-01 COSM1130790 c.257G>A p.G86E Substitution - Missense 2:36925186-36925186 - TCGA-AB-2983-03 COSM166822 c.389T>A p.M130K Substitution - Missense 2:36916101-36916101 - ATL065 COSM5708201 c.1207C>T p.P403S Substitution - Missense 2:36878007-36878007 - TCGA-A2-A0EY-01 COSM442863 c.2135delT p.L712fs*1 Deletion - Frameshift 2:36849752-36849752 - BD236T COSM5518286 c.1043-7delT p.? Unknown 2:36884082-36884082 - TCGA-33-4586-01 COSM721087 c.822C>G p.D274E Substitution - Missense 2:36894007-36894007 - CSCC-11-T COSM1227932 c.2236G>A p.A746T Substitution - Missense 2:36849563-36849563 - EOPC-058_tumor_01 COSM5950737 c.799G>T p.V267F Substitution - Missense 2:36894030-36894030 - PT23_2 COSM5903431 c.1822T>A p.F608I Substitution - Missense 2:36857871-36857871 - CHC1534T COSM4955076 c.1584T>C p.G528G Substitution - coding silent 2:36861217-36861217 - LUAD-NYU201 COSM371378 c.1873A>G p.S625G Substitution - Missense 2:36855317-36855317 - I2L-P24Tb-Tumor-Biopsy COSM5354493 c.1066G>C p.D356H Substitution - Missense 2:36884052-36884052 - pfg057T COSM2943583 c.1031delA p.K344fs*3 Deletion - Frameshift 2:36886727-36886727 - TCGA-EE-A2MT-06 COSM3581394 c.2261C>T p.S754L Substitution - Missense 2:36849538-36849538 - 71M COSM5596069 c.709C>T p.L237F Substitution - Missense 2:36899609-36899609 - H1299 COSM1193493 c.2188A>G p.I730V Substitution - Missense 2:36849611-36849611 - TCGA-HU-A4H4-01 COSM4094055 c.1636A>T p.T546S Substitution - Missense 2:36861165-36861165 - TCGA-FS-A1YY-06 COSM442865 c.1106C>T p.S369L Substitution - Missense 2:36884012-36884012 - TCGA-FS-A1ZZ-06 COSM3581396 c.1800G>A p.E600E Substitution - coding silent 2:36857893-36857893 - TCGA-66-2756-01 COSM721085 c.385G>T p.D129Y Substitution - Missense 2:36916105-36916105 - CHC1534T COSM4955076 c.1584T>C p.G528G Substitution - coding silent 2:36861217-36861217 - T2940 COSM4730678 c.810delA p.A271fs*15 Deletion - Frameshift 2:36894019-36894019 - I2L-P24Tb-Tumor-Organoid COSM5354493 c.1066G>C p.D356H Substitution - Missense 2:36884052-36884052 - TCGA-G4-6302-01 COSM1158314 c.659+1G>A p.? Unknown 2:36902583-36902583 - 8044838 COSM1158314 c.659+1G>A p.? Unknown 2:36902583-36902583 - I2L-P19Ta-Tumor-Biopsy COSM5354216 c.977A>C p.Q326P Substitution - Missense 2:36886781-36886781 - 8061105 COSM3391717 c.2191C>A p.R731S Substitution - Missense 2:36849608-36849608 - RK047_C01 COSM1631999 c.2086+9_2086+10delTT p.? Unknown 2:36850990-36850991 - S00944 COSM315668 c.1136G>T p.R379I Substitution - Missense 2:36883982-36883982 - TCGA-EE-A20C-06 COSM1020640 c.1321G>A p.D441N Substitution - Missense 2:36877893-36877893 - TCGA-BR-8368-01 COSM4094060 c.470A>G p.Q157R Substitution - Missense 2:36905561-36905561 - TCGA-MY-A5BD-01 COSM4855531 c.1379G>A p.R460K Substitution - Missense 2:36869674-36869674 - TCGA-CG-5728-01 COSM1407938 c.582G>A p.T194T Substitution - coding silent 2:36902661-36902661 - HCC76 COSM1614817 c.74G>T p.G25V Substitution - Missense 2:36966390-36966390 - DN11153 COSM5769503 c.1022A>G p.K341R Substitution - Missense 2:36886736-36886736 - TCGA-D1-A17A-01 COSM1020645 c.168G>A p.L56L Substitution - coding silent 2:36966296-36966296 - TCGA-Q1-A73O-01 COSM4835581 c.240G>C p.Q80H Substitution - Missense 2:36925203-36925203 - JEKO-1 COSM1738749 c.824G>A p.S275N Substitution - Missense 2:36894005-36894005 - TCGA-BS-A0UF-01 COSM1020642 c.748G>A p.D250N Substitution - Missense 2:36899570-36899570 - LC_S23 COSM1185878 c.2243G>A p.R748Q Substitution - Missense 2:36849556-36849556 - I2L-P19Ta-Tumor-Organoid COSM5354216 c.977A>C p.Q326P Substitution - Missense 2:36886781-36886781 - TCGA-CJ-6033-01 COSM477371 c.1574G>A p.S525N Substitution - Missense 2:36861227-36861227 - TCGA-HF-7132-01 COSM4094057 c.1031A>G p.K344R Substitution - Missense 2:36886727-36886727 - 61 COSM1690474 c.2030C>T p.P677L Substitution - Missense 2:36851056-36851056 - TCGA-AP-A051-01 COSM1020635 c.2237C>A p.A746D Substitution - Missense 2:36849562-36849562 - TCGA-B0-5098-01 COSM1494911 c.215T>C p.V72A Substitution - Missense 2:36966249-36966249 - TCGA-06-5408-01 COSM3407846 c.2031G>A p.P677P Substitution - coding silent 2:36851055-36851055 - TCGA-B5-A11E-01 COSM1020639 c.1441G>T p.A481S Substitution - Missense 2:36869612-36869612 - TCGA-BH-A0BP-01 COSM442865 c.1106C>T p.S369L Substitution - Missense 2:36884012-36884012 - TCGA-AZ-4615-01 COSM3695490 c.1767A>G p.A589A Substitution - coding silent 2:36857926-36857926 - 8068976 COSM3771084 c.1306G>A p.D436N Substitution - Missense 2:36877908-36877908 - CHC892T COSM4959110 c.1852G>A p.A618T Substitution - Missense 2:36855338-36855338 - ESCC-123T COSM3939086 c.708C>G p.F236L Substitution - Missense 2:36899610-36899610 - 041T COSM1729226 c.471A>T p.Q157H Substitution - Missense 2:36905560-36905560 - Pat_60_A COSM2943583 c.1031delA p.K344fs*3 Deletion - Frameshift 2:36886727-36886727 - TCGA-DS-A1OD-01 COSM1293985 c.2274A>G p.V758V Substitution - coding silent 2:36849525-36849525 - PT36 COSM5915023 c.1548-4C>T p.? Unknown 2:36861257-36861257 - TCGA-ER-A194-01 COSM3581400 c.282G>A p.L94L Substitution - coding silent 2:36925161-36925161 - 2492729 COSM5726409 c.1033G>A p.G345R Substitution - Missense 2:36886725-36886725 - TCGA-FS-A1ZZ-06 COSM3581399 c.1102C>T p.P368S Substitution - Missense 2:36884016-36884016 - PD8997a COSM5769503 c.1022A>G p.K341R Substitution - Missense 2:36886736-36886736 - TCGA-EK-A2RD-01 COSM4820346 c.1902C>T p.F634F Substitution - coding silent 2:36855288-36855288 - 8069459 COSM4408305 c.44A>C p.H15P Substitution - Missense 2:36966420-36966420 - TCGA-B5-A0JY-01 COSM1020638 c.1960G>T p.E654* Substitution - Nonsense 2:36855230-36855230 - OSCC-GB_00930111 COSM4888282 c.1929C>A p.N643K Substitution - Missense 2:36855261-36855261 - TCGA-AN-A0FX-01 COSM5834445 c.72_73insC p.G25fs*86 Insertion - Frameshift 2:36966391-36966392 - TCGA-DK-A3WW-01 COSM3798985 c.998A>T p.K333M Substitution - Missense 2:36886760-36886760 - TCGA-AX-A0J1-01 COSM1020636 c.2153G>A p.G718D Substitution - Missense 2:36849734-36849734 - YUWAND COSM1690474 c.2030C>T p.P677L Substitution - Missense 2:36851056-36851056 - 587376 COSM1227933 c.338+2T>G p.? Unknown 2:36925103-36925103 - ESCC-123T COSM3939085 c.780C>G p.V260V Substitution - coding silent 2:36899538-36899538 - S02285 COSM5684761 c.18T>G p.G6G Substitution - coding silent 2:36966446-36966446 - TCGA-IH-A3EA-01 COSM2943577 c.1211C>T p.S404F Substitution - Missense 2:36878003-36878003 - B88-Tumor COSM3933640 c.1203T>A p.F401L Substitution - Missense 2:36878011-36878011 - TCGA-CA-6717-01 COSM1407936 c.1434G>T p.L478F Substitution - Missense 2:36869619-36869619 - TCGA-18-3419-01 COSM721086 c.767G>C p.R256T Substitution - Missense 2:36899551-36899551 - TCGA-A6-5661-01 COSM1407937 c.1036delG p.V346fs*1 Deletion - Frameshift 2:36886722-36886722 - TCGA-BS-A0UM-01 COSM1020634 c.2298T>G p.Y766* Substitution - Nonsense 2:36849501-36849501 - HCT15 COSM2943594 c.615T>C p.V205V Substitution - coding silent 2:36902628-36902628 - TCGA-AM-5820-01 COSM3695491 c.913G>T p.G305C Substitution - Missense 2:36893916-36893916 - RK117_C01 COSM3702185 c.2036G>T p.S679I Substitution - Missense 2:36851050-36851050 - TCGA-A8-A0A6-01 COSM3839470 c.506T>G p.V169G Substitution - Missense 2:36902737-36902737 - TCGA-EE-A2MF-06 COSM4892555 c.1123G>T p.G375C Substitution - Missense 2:36883995-36883995 - TCGA-G4-6588-01 COSM1407938 c.582G>A p.T194T Substitution - coding silent 2:36902661-36902661 - RK258_C01 COSM4779458 c.2219G>A p.C740Y Substitution - Missense 2:36849580-36849580 - 12T COSM106583 c.379C>T p.Q127* Substitution - Nonsense 2:36916111-36916111 - TCGA-AA-3966-01 COSM273313 c.988A>G p.T330A Substitution - Missense 2:36886770-36886770 - TCGA-AG-3892-01 COSM258108 c.1750T>G p.L584V Substitution - Missense 2:36857943-36857943 - TCGA-CD-8532-01 COSM4094053 c.2102C>T p.S701L Substitution - Missense 2:36849785-36849785 - CSCC-20-T COSM4521654 c.1122G>A p.V374V Substitution - coding silent 2:36883996-36883996 - S00944 COSM315668 c.1136G>T p.R379I Substitution - Missense 2:36883982-36883982 - LC_S6 COSM1190710 c.463delT p.W155fs*22 Deletion - Frameshift 2:36905568-36905568 - SNU-C4 COSM4094057 c.1031A>G p.K344R Substitution - Missense 2:36886727-36886727 - ZZUFHECRKL-G011T COSM5445250 c.2299A>G p.I767V Substitution - Missense 2:36849500-36849500 - TCGA-EE-A2A2-06 COSM3581398 c.1251T>A p.L417L Substitution - coding silent 2:36877963-36877963 - 587342 COSM1227931 c.245C>T p.A82V Substitution - Missense 2:36925198-36925198 - PD4120a COSM164669 c.996C>G p.L332L Substitution - coding silent 2:36886762-36886762 - CHC892T COSM4793832 c.1145G>A p.S382N Substitution - Missense 2:36883973-36883973 - TCGA-37-3783-01 COSM721090 c.1728T>A p.A576A Substitution - coding silent 2:36857965-36857965 - TCGA-EE-A2MD-06 COSM3581395 c.1815A>T p.L605L Substitution - coding silent 2:36857878-36857878 - TCGA-GL-7773-01 COSM3991287 c.600A>C p.K200N Substitution - Missense 2:36902643-36902643 - 61 COSM5736012 c.1850C>A p.P617H Substitution - Missense 2:36855340-36855340 - TCGA-AA-A010-01 COSM285429 c.1324-9C>A p.? Unknown 2:36869738-36869738 - TCGA-D3-A2JK-06 COSM3581397 c.1403C>T p.A468V Substitution - Missense 2:36869650-36869650 - LUAD-FH5PJ COSM394498 c.1892T>G p.V631G Substitution - Missense 2:36855298-36855298 - TCGA-D7-6528-01 COSM4094056 c.1367A>C p.K456T Substitution - Missense 2:36869686-36869686 - HN_62854 COSM129479 c.1798G>A p.E600K Substitution - Missense 2:36857895-36857895 - TCGA-AP-A0LD-01 COSM1020640 c.1321G>A p.D441N Substitution - Missense 2:36877893-36877893 - CHC892T COSM4793832 c.1145G>A p.S382N Substitution - Missense 2:36883973-36883973 - PT08_1 COSM5892790 c.2256A>T p.E752D Substitution - Missense 2:36849543-36849543 - 3030_T COSM3962816 c.1676C>A p.S559Y Substitution - Missense 2:36858017-36858017 - TCGA-BS-A0UF-01 COSM1020641 c.1184A>G p.E395G Substitution - Missense 2:36883934-36883934 - TCGA-B8-5553-01 COSM186793 c.687C>T p.S229S Substitution - coding silent 2:36899631-36899631 - TCGA-28-5207-01 COSM3407847 c.284A>G p.K95R Substitution - Missense 2:36925159-36925159 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.127481;Hs.127486 2p22.2 614765

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Nonsense p.Y766* c.2298T>G 2 37076644 UCEC A - Frameshift p.L712*fs*1 c.2135delT 2 37076895 BRCA AGA - InFrameDeletion p.S405delS c.1213_1215delTCT 2 37105142 CM AGA - InFrameDeletion p.S405delS c.1213_1215delTCT 2 37105143 AML A T Missense p.M130K c.389T>A 2 37143244 AML A T Nonsense p.Y510* c.1530T>A 2 37094974 CM A T Synonymous p.A576A c.1728T>A 2 37085108 LUSC A T Synonymous p.L417L c.1251T>A 2 37105106 CM C A Missense p.A304S c.910G>T 2 37121062 LUAD C A Missense p.D129Y c.385G>T 2 37143248 LUSC C A Missense p.E475D c.1425G>T 2 37096771 LUAD C A Missense p.G342W c.1024G>T 2 37113877 CM C A Missense p.G375C c.1123G>T 2 37111138 CM C A Missense p.R379I c.1136G>T 2 37111125 SCLC C A Synonymous p.T430T c.1290G>T 2 37105067 LUAD C G Missense p.G406A c.1217G>C 2 37105140 BLCA C G Missense p.R256T c.767G>C 2 37126694 LUSC CTCGATCTTCACCGCTGTCA - Frameshift p.D274Yfs*9 c.819_838delTGACAGCGGTGAAGATCGAG 2 37121134 GBM C T Missense p.D254N c.760G>A 2 37126701 HNSC C T Missense p.D441N c.1321G>A 2 37105036 CM C T Missense p.D441N c.1321G>A 2 37105036 UCEC C T Missense p.D727N c.2179G>A 2 37076763 LUAD C T Missense p.D97N c.289G>A 2 37152297 CM C T Missense p.E600K c.1798G>A 2 37085038 HNSC C T Missense p.E684K c.2050G>A 2 37078179 HNSC C T Missense p.S525N c.1574G>A 2 37088370 RCCC C T Missense p.V267I c.799G>A 2 37121173 BRCA C T Synonymous p.E600E c.1800G>A 2 37085036 CM C T Synonymous p.L56L c.168G>A 2 37193439 UCEC C T Synonymous p.L94L c.282G>A 2 37152304 CM C T Synonymous p.P677P c.2031G>A 2 37078198 GBM C T Synonymous p.Q111Q c.333G>A 2 37152253 CM C T Synonymous p.T194T c.582G>A 2 37129804 STAD C T Synonymous p.T569T c.1707G>A 2 37085129 BRCA G A Missense p.A468V c.1403C>T 2 37096793 CM G A Missense p.P368S c.1102C>T 2 37111159 CM G A Missense p.P386S c.1156C>T 2 37111105 CM G A Missense p.P617S c.1849C>T 2 37082484 CM G A Missense p.S369L c.1106C>T 2 37111155 BRCA G A Missense p.S369L c.1106C>T 2 37111155 CM G A Missense p.S404F c.1211C>T 2 37105146 CM G A Missense p.S664F c.1991C>T 2 37078238 CM G A Missense p.S754L c.2261C>T 2 37076681 CM G A Nonsense p.R184* c.550C>T 2 37129836 HNSC G A Synonymous p.F760F c.2280C>T 2 37076662 CM G A Synonymous p.S229S c.687C>T 2 37126774 RCCC G C 3-UTRSNV . c.2340+4935C>G 2 37071667 MB G C Missense p.D274E c.822C>G 2 37121150 LUSC G C Synonymous p.G465G c.1395C>G 2 37096801 LUAD G C Synonymous p.L332L c.996C>G 2 37113905 BRCA G C Synonymous p.P548P c.1644C>G 2 37088300 THCA G T 3-UTRSNV . c.2340+876C>A 2 37075726 CLL G T Missense p.F63L c.189C>A 2 37193418 ESCA G T Missense p.S381R c.1143C>A 2 37111118 LUAD T A Synonymous p.L605L c.1815A>T 2 37085021 CM T C 3-UTRSNV . c.2340+3234A>G 2 37073368 HC T C 3-UTRSNV . c.2340+5224A>G 2 37071378 HC T C Missense p.K110E c.328A>G 2 37152258 STAD T C Missense p.K95R c.284A>G 2 37152302 GBM T C Missense p.R163G c.487A>G 2 37132687 SCLC T G Missense p.K456T c.1367A>C 2 37096829 STAD T G Missense p.R460S c.1380A>C 2 37096816 LUSC