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 BLCA 9 100888882 100888882 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr9:100888882C>G c.1395G>C c.(1393-1395)ctG>ctC p.L465L BLCA 9 100890904 100890904 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr9:100890904C>T c.1065G>A c.(1063-1065)atG>atA p.M355I BLCA 9 100890922 100890922 + Silent SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr9:100890922G>A c.1047C>T c.(1045-1047)ctC>ctT p.L349L BLCA 9 100892140 100892140 + Silent SNP G G A TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr9:100892140G>A c.903C>T c.(901-903)agC>agT p.S301S BLCA 9 100895394 100895394 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr9:100895394C>T c.574G>A c.(574-576)Ggc>Agc p.G192S BLCA 9 100899883 100899883 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr9:100899883C>G c.289G>C c.(289-291)Gag>Cag p.E97Q BRCA 9 100887118 100887118 + Missense_Mutation SNP C C T TCGA-E2-A14Q-01A-11D-A12B-09 TCGA-E2-A14Q-10A-01D-A12B-09 g.chr9:100887118C>T c.1516G>A c.(1516-1518)Gtc>Atc p.V506I BRCA 9 100888910 100888910 + Missense_Mutation SNP T T G TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 g.chr9:100888910T>G c.1367A>C c.(1366-1368)cAc>cCc p.H456P BRCA 9 100890527 100890527 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 g.chr9:100890527C>T c.1096G>A c.(1096-1098)Gag>Aag p.E366K BRCA 9 100895427 100895427 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr9:100895427C>G c.541G>C c.(541-543)Gat>Cat p.D181H CESC 9 100889065 100889065 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr9:100889065C>T c.1212G>A c.(1210-1212)ctG>ctA p.L404L CESC 9 100890986 100890986 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr9:100890986C>G c.983G>C c.(982-984)aGa>aCa p.R328T CESC 9 100892173 100892173 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr9:100892173C>G c.e8-1 CESC 9 100897207 100897207 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr9:100897207G>T c.349C>A c.(349-351)Ctg>Atg p.L117M COAD 9 100887058 100887058 + Nonstop_Mutation SNP A A T TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr9:100887058A>T c.1576T>A c.(1576-1578)Tga>Aga p.*526R COAD 9 100888861 100888861 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:100888861G>A c.1416C>T c.(1414-1416)ttC>ttT p.F472F COAD 9 100888881 100888881 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:100888881T>C c.1396A>G c.(1396-1398)Aca>Gca p.T466A COAD 9 100889003 100889003 + Missense_Mutation SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr9:100889003C>A c.1274G>T c.(1273-1275)cGg>cTg p.R425L COAD 9 100890978 100890978 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:100890978C>T c.991G>A c.(991-993)Gac>Aac p.D331N COAD 9 100894473 100894473 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr9:100894473C>A c.759G>T c.(757-759)tgG>tgT p.W253C COAD 9 100894538 100894538 + Missense_Mutation SNP C C G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr9:100894538C>G c.694G>C c.(694-696)Ggg>Cgg p.G232R COAD 9 100897160 100897160 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr9:100897160C>T c.396G>A c.(394-396)gcG>gcA p.A132A COAD 9 100899934 100899934 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:100899934C>T c.238G>A c.(238-240)Ggg>Agg p.G80R COAD 9 100919823 100919823 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:100919823G>T c.120C>A c.(118-120)ttC>ttA p.F40L COADREAD 9 100887058 100887058 + Nonstop_Mutation SNP A A T TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr9:100887058A>T c.1576T>A c.(1576-1578)Tga>Aga p.*526R COADREAD 9 100888861 100888861 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:100888861G>A c.1416C>T c.(1414-1416)ttC>ttT p.F472F COADREAD 9 100888881 100888881 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:100888881T>C c.1396A>G c.(1396-1398)Aca>Gca p.T466A COADREAD 9 100889003 100889003 + Missense_Mutation SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr9:100889003C>A c.1274G>T c.(1273-1275)cGg>cTg p.R425L COADREAD 9 100890958 100890958 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:100890958G>T c.1011C>A c.(1009-1011)atC>atA p.I337I COADREAD 9 100890978 100890978 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:100890978C>T c.991G>A c.(991-993)Gac>Aac p.D331N COADREAD 9 100894473 100894473 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr9:100894473C>A c.759G>T c.(757-759)tgG>tgT p.W253C COADREAD 9 100894538 100894538 + Missense_Mutation SNP C C G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr9:100894538C>G c.694G>C c.(694-696)Ggg>Cgg p.G232R COADREAD 9 100897160 100897160 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr9:100897160C>T c.396G>A c.(394-396)gcG>gcA p.A132A COADREAD 9 100899934 100899934 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:100899934C>T c.238G>A c.(238-240)Ggg>Agg p.G80R COADREAD 9 100919823 100919823 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:100919823G>T c.120C>A c.(118-120)ttC>ttA p.F40L ESCA 9 100887124 100887124 + Nonsense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr9:100887124G>A c.1510C>T c.(1510-1512)Cga>Tga p.R504* ESCA 9 100892121 100892121 + Missense_Mutation SNP T T A TCGA-LN-A49U-01A-31D-A27G-09 TCGA-LN-A49U-10A-01D-A27G-09 g.chr9:100892121T>A c.922A>T c.(922-924)Agc>Tgc p.S308C ESCA 9 100895438 100895438 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr9:100895438C>T c.530G>A c.(529-531)aGc>aAc p.S177N GBM 9 100897128 100897128 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr9:100897128G>A c.428C>T c.(427-429)aCg>aTg p.T143M GBMLGG 9 100897128 100897128 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr9:100897128G>A c.428C>T c.(427-429)aCg>aTg p.T143M GBMLGG 9 100897160 100897160 + Silent SNP C C T TCGA-HT-7695-01A-11D-2253-08 TCGA-HT-7695-10A-01D-2253-08 g.chr9:100897160C>T c.396G>A c.(394-396)gcG>gcA p.A132A GBMLGG 9 100897184 100897184 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:100897184G>A c.372C>T c.(370-372)taC>taT p.Y124Y GBMLGG 9 100897226 100897226 + Missense_Mutation SNP C C A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr9:100897226C>A c.330G>T c.(328-330)tgG>tgT p.W110C HNSC 9 100888996 100888996 + Missense_Mutation SNP C C G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr9:100888996C>G c.1281G>C c.(1279-1281)ttG>ttC p.L427F HNSC 9 100892109 100892109 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr9:100892109C>T c.934G>A c.(934-936)Gag>Aag p.E312K HNSC 9 100893279 100893279 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr9:100893279G>A c.828C>T c.(826-828)ccC>ccT p.P276P HNSC 9 100895440 100895440 + Silent SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr9:100895440A>G c.528T>C c.(526-528)atT>atC p.I176I HNSC 9 100899882 100899882 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr9:100899882T>A c.290A>T c.(289-291)gAg>gTg p.E97V HNSC 9 100899883 100899883 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr9:100899883C>G c.289G>C c.(289-291)Gag>Cag p.E97Q KICH 9 100888937 100888937 + Missense_Mutation SNP T T C TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr9:100888937T>C c.1340A>G c.(1339-1341)gAg>gGg p.E447G KIPAN 9 100888937 100888937 + Missense_Mutation SNP T T C TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr9:100888937T>C c.1340A>G c.(1339-1341)gAg>gGg p.E447G KIPAN 9 100899899 100899899 + Missense_Mutation SNP G G C TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr9:100899899G>C c.273C>G c.(271-273)aaC>aaG p.N91K KIPAN 9 100919886 100919887 + Frame_Shift_Ins INS - - G TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr9:100919886_100919887insG c.56_57insC c.(55-57)ccafs p.P19fs KIRC 9 100899899 100899899 + Missense_Mutation SNP G G C TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr9:100899899G>C c.273C>G c.(271-273)aaC>aaG p.N91K KIRC 9 100919886 100919887 + Frame_Shift_Ins INS - - G TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr9:100919886_100919887insG c.56_57insC c.(55-57)ccafs p.P19fs LGG 9 100897160 100897160 + Silent SNP C C T TCGA-HT-7695-01A-11D-2253-08 TCGA-HT-7695-10A-01D-2253-08 g.chr9:100897160C>T c.396G>A c.(394-396)gcG>gcA p.A132A LGG 9 100897184 100897184 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:100897184G>A c.372C>T c.(370-372)taC>taT p.Y124Y LGG 9 100897226 100897226 + Missense_Mutation SNP C C A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr9:100897226C>A c.330G>T c.(328-330)tgG>tgT p.W110C LIHC 9 100889088 100889088 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr9:100889088delG c.1189delC c.(1189-1191)cttfs p.L397fs LIHC 9 100890927 100890927 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr9:100890927delT c.1042delA c.(1042-1044)agcfs p.S348fs LUAD 9 100889046 100889046 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr9:100889046C>A c.1231G>T c.(1231-1233)Gca>Tca p.A411S LUAD 9 100892076 100892076 + Splice_Site SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr9:100892076C>A c.967G>T c.(967-969)Ggt>Tgt p.G323C LUAD 9 100893269 100893269 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 g.chr9:100893269C>G c.838G>C c.(838-840)Gcg>Ccg p.A280P LUAD 9 100893276 100893276 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr9:100893276G>A c.831C>T c.(829-831)ttC>ttT p.F277F LUAD 9 100893318 100893318 + Missense_Mutation SNP C C G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr9:100893318C>G c.789G>C c.(787-789)atG>atC p.M263I LUAD 9 100895494 100895494 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr9:100895494C>T c.474G>A c.(472-474)atG>atA p.M158I LUAD 9 100899883 100899883 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr9:100899883C>T c.289G>A c.(289-291)Gag>Aag p.E97K LUSC 9 100888860 100888860 + Missense_Mutation SNP C C T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr9:100888860C>T c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K OV 9 100888858 100888858 + Missense_Mutation SNP T T A TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 g.chr9:100888858T>A c.1419A>T c.(1417-1419)gaA>gaT p.E473D OV 9 100919860 100919860 + Missense_Mutation SNP G G A TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr9:100919860G>A c.83C>T c.(82-84)tCc>tTc p.S28F PAAD 9 100895363 100895363 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr9:100895363C>T c.605G>A c.(604-606)cGc>cAc p.R202H PAAD 9 100895437 100895437 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 g.chr9:100895437G>A c.531C>T c.(529-531)agC>agT p.S177S PRAD 9 100897161 100897161 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:100897161G>A c.395C>T c.(394-396)gCg>gTg p.A132V READ 9 100890958 100890958 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:100890958G>T c.1011C>A c.(1009-1011)atC>atA p.I337I SKCM 9 100888860 100888860 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr9:100888860C>T c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K SKCM 9 100888950 100888950 + Missense_Mutation SNP A A T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr9:100888950A>T c.1327T>A c.(1327-1329)Tcc>Acc p.S443T SKCM 9 100888952 100888952 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr9:100888952G>A c.1325C>T c.(1324-1326)tCc>tTc p.S442F SKCM 9 100890474 100890474 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:100890474C>T c.1149G>A c.(1147-1149)gaG>gaA p.E383E SKCM 9 100890913 100890913 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr9:100890913G>A c.1056C>T c.(1054-1056)ccC>ccT p.P352P SKCM 9 100890919 100890919 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr9:100890919G>A c.1050C>T c.(1048-1050)atC>atT p.I350I SKCM 9 100892098 100892098 + Silent SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr9:100892098G>A c.945C>T c.(943-945)tcC>tcT p.S315S SKCM 9 100892099 100892099 + Missense_Mutation SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr9:100892099G>A c.944C>T c.(943-945)tCc>tTc p.S315F SKCM 9 100892148 100892148 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr9:100892148C>T c.895G>A c.(895-897)Gag>Aag p.E299K SKCM 9 100895494 100895494 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr9:100895494C>T c.474G>A c.(472-474)atG>atA p.M158I SKCM 9 100897142 100897142 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr9:100897142C>T c.414G>A c.(412-414)gtG>gtA p.V138V SKCM 9 100897173 100897173 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr9:100897173A>C c.383T>G c.(382-384)cTc>cGc p.L128R SKCM 9 100897189 100897189 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr9:100897189C>T c.367G>A c.(367-369)Gcc>Acc p.A123T SKCM 9 100897226 100897226 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr9:100897226C>T c.330G>A c.(328-330)tgG>tgA p.W110* SKCM 9 100899903 100899903 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr9:100899903C>T c.269G>A c.(268-270)tGg>tAg p.W90* SKCM 9 100919753 100919753 + Missense_Mutation SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr9:100919753G>A c.190C>T c.(190-192)Ccc>Tcc p.P64S SKCM 9 100919807 100919807 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr9:100919807G>A c.136C>T c.(136-138)Cac>Tac p.H46Y SKCM 9 100919812 100919812 + Missense_Mutation SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr9:100919812T>C c.131A>G c.(130-132)aAc>aGc p.N44S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 9 100888882 100888882 single base substitution C G synonymous_variant L465L 1395G>C BOCA-FR 9 100919817 100919817 single base substitution G A synonymous_variant A42A 126C>T BRCA-EU 9 100878434 100878434 single base substitution A T downstream_gene_variant BRCA-EU 9 100878709 100878709 single base substitution A G downstream_gene_variant BRCA-EU 9 100878904 100878922 deletion of <=200bp AGCCCAGGAATTCTAGACC - downstream_gene_variant BRCA-EU 9 100879873 100879873 single base substitution G C downstream_gene_variant BRCA-EU 9 100880444 100880444 single base substitution C A downstream_gene_variant BRCA-EU 9 100881021 100881021 single base substitution T G downstream_gene_variant BRCA-EU 9 100881915 100881915 single base substitution C G downstream_gene_variant BRCA-EU 9 100883410 100883410 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 100884077 100884077 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 100884340 100884340 single base substitution C A 3_prime_UTR_variant BRCA-EU 9 100885639 100885639 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 9 100885780 100885780 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 100885781 100885781 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 100886125 100886125 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 100886547 100886547 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 100887309 100887309 single base substitution G A intron_variant BRCA-EU 9 100888375 100888375 single base substitution T C intron_variant BRCA-EU 9 100892376 100892376 single base substitution C G intron_variant BRCA-EU 9 100892380 100892380 deletion of <=200bp T - intron_variant BRCA-EU 9 100892744 100892744 single base substitution C G intron_variant BRCA-EU 9 100893899 100893899 single base substitution C A intron_variant BRCA-EU 9 100893900 100893900 single base substitution C T intron_variant BRCA-EU 9 100898281 100898281 single base substitution C A intron_variant BRCA-EU 9 100898560 100898560 single base substitution C A intron_variant BRCA-EU 9 100899513 100899513 single base substitution G C intron_variant BRCA-EU 9 100899913 100899913 single base substitution C T missense_variant D87N 259G>A BRCA-EU 9 100901017 100901017 single base substitution C T intron_variant BRCA-EU 9 100901108 100901108 single base substitution A T intron_variant BRCA-EU 9 100901518 100901518 single base substitution C T intron_variant BRCA-EU 9 100903173 100903173 single base substitution G A intron_variant BRCA-EU 9 100903541 100903541 single base substitution C A intron_variant BRCA-EU 9 100903597 100903597 single base substitution G C intron_variant BRCA-EU 9 100903759 100903759 single base substitution T A intron_variant BRCA-EU 9 100907969 100907969 single base substitution G C intron_variant BRCA-EU 9 100908547 100908547 single base substitution C T intron_variant BRCA-EU 9 100910031 100910031 single base substitution C A intron_variant BRCA-EU 9 100910690 100910690 single base substitution A T intron_variant BRCA-EU 9 100910945 100910945 single base substitution G A intron_variant BRCA-EU 9 100912338 100912338 single base substitution C A intron_variant BRCA-EU 9 100912568 100912568 single base substitution G C intron_variant BRCA-EU 9 100914033 100914033 single base substitution C G intron_variant BRCA-EU 9 100914191 100914191 single base substitution C T intron_variant BRCA-EU 9 100918069 100918069 single base substitution T A intron_variant BRCA-EU 9 100918499 100918499 single base substitution T C intron_variant BRCA-EU 9 100918685 100918685 single base substitution A T intron_variant BRCA-EU 9 100922338 100922338 single base substitution C T intron_variant BRCA-EU 9 100922625 100922625 single base substitution G A intron_variant BRCA-EU 9 100924065 100924065 single base substitution C T intron_variant BRCA-EU 9 100924104 100924104 single base substitution T C intron_variant BRCA-EU 9 100925504 100925504 single base substitution C G intron_variant BRCA-EU 9 100926410 100926410 single base substitution C A intron_variant BRCA-EU 9 100926492 100926492 single base substitution A C intron_variant BRCA-EU 9 100926716 100926716 single base substitution C T intron_variant BRCA-EU 9 100927197 100927197 single base substitution A T intron_variant BRCA-EU 9 100927485 100927489 deletion of <=200bp CACAC - intron_variant BRCA-EU 9 100929221 100929221 single base substitution A G intron_variant BRCA-EU 9 100930001 100930001 single base substitution G A intron_variant BRCA-EU 9 100930994 100930994 single base substitution A G intron_variant BRCA-EU 9 100931913 100931913 single base substitution G C intron_variant BRCA-EU 9 100931924 100931924 single base substitution C G intron_variant BRCA-EU 9 100937092 100937092 single base substitution T A intron_variant BRCA-EU 9 100937092 100937092 single base substitution T A upstream_gene_variant BRCA-EU 9 100940883 100940883 single base substitution C A intron_variant BRCA-EU 9 100940965 100940965 single base substitution C T intron_variant BRCA-EU 9 100941970 100941970 single base substitution C G intron_variant BRCA-EU 9 100942782 100942782 single base substitution C A intron_variant BRCA-EU 9 100943482 100943482 single base substitution A C intron_variant BRCA-EU 9 100945345 100945345 single base substitution T C intron_variant BRCA-EU 9 100945412 100945412 single base substitution C T intron_variant BRCA-EU 9 100946637 100946637 single base substitution T A intron_variant BRCA-EU 9 100947055 100947055 single base substitution T C intron_variant BRCA-EU 9 100947471 100947471 single base substitution T A intron_variant BRCA-EU 9 100947529 100947529 single base substitution C T intron_variant BRCA-EU 9 100949207 100949207 single base substitution C G intron_variant BRCA-EU 9 100950917 100950917 single base substitution G A intron_variant BRCA-EU 9 100952490 100952490 single base substitution C G intron_variant BRCA-EU 9 100952735 100952735 deletion of <=200bp T - intron_variant BRCA-EU 9 100954901 100954901 single base substitution C T 5_prime_UTR_variant BRCA-EU 9 100955889 100955889 single base substitution C A upstream_gene_variant BRCA-EU 9 100956056 100956056 single base substitution C G upstream_gene_variant BRCA-EU 9 100957010 100957010 single base substitution G C upstream_gene_variant BRCA-EU 9 100957098 100957098 single base substitution C T upstream_gene_variant BRCA-EU 9 100957415 100957415 single base substitution C T upstream_gene_variant BRCA-EU 9 100959056 100959056 single base substitution C G upstream_gene_variant BRCA-FR 9 100878709 100878709 single base substitution A G downstream_gene_variant BRCA-FR 9 100887554 100887554 single base substitution G A intron_variant BRCA-FR 9 100892376 100892376 single base substitution C G intron_variant BRCA-FR 9 100892744 100892744 single base substitution C G intron_variant BRCA-FR 9 100901017 100901017 single base substitution C T intron_variant BRCA-FR 9 100901277 100901277 single base substitution C T intron_variant BRCA-FR 9 100907969 100907969 single base substitution G C intron_variant BRCA-FR 9 100910031 100910031 single base substitution C A intron_variant BRCA-FR 9 100914438 100914438 single base substitution C G intron_variant BRCA-FR 9 100922338 100922338 single base substitution C T intron_variant BRCA-FR 9 100929221 100929221 single base substitution A G intron_variant BRCA-FR 9 100930001 100930001 single base substitution G A intron_variant BRCA-FR 9 100931913 100931913 single base substitution G C intron_variant BRCA-FR 9 100941970 100941970 single base substitution C G intron_variant BRCA-FR 9 100954901 100954901 single base substitution C T 5_prime_UTR_variant BRCA-UK 9 100886547 100886547 single base substitution C T 3_prime_UTR_variant BRCA-UK 9 100916605 100916605 single base substitution T G intron_variant BRCA-UK 9 100918438 100918438 single base substitution C T intron_variant BRCA-UK 9 100947055 100947055 single base substitution T C intron_variant BRCA-UK 9 100949207 100949207 single base substitution C G intron_variant BRCA-UK 9 100959056 100959056 single base substitution C G upstream_gene_variant BRCA-US 9 100887118 100887118 single base substitution C T missense_variant V506I 1516G>A BRCA-US 9 100888910 100888910 single base substitution T G missense_variant H456P 1367A>C BRCA-US 9 100890527 100890527 single base substitution C T missense_variant E366K 1096G>A BRCA-US 9 100895427 100895427 single base substitution C G missense_variant D181H 541G>C BTCA-JP 9 100893403 100893403 single base substitution C A intron_variant BTCA-JP 9 100893487 100893487 deletion of <=200bp G - intron_variant BTCA-JP 9 100895488 100895488 single base substitution C T stop_gained W160* 480G>A BTCA-JP 9 100897123 100897123 single base substitution C T missense_variant A145T 433G>A CESC-US 9 100889065 100889065 single base substitution C T synonymous_variant L404L 1212G>A CESC-US 9 100890986 100890986 single base substitution C G missense_variant R328T 983G>C CESC-US 9 100892173 100892173 single base substitution C G splice_acceptor_variant CESC-US 9 100897207 100897207 single base substitution G T missense_variant L117M 349C>A CLLE-ES 9 100906125 100906125 single base substitution G T intron_variant CLLE-ES 9 100922549 100922549 single base substitution G C intron_variant CLLE-ES 9 100941816 100941816 single base substitution C T intron_variant CLLE-ES 9 100950331 100950331 single base substitution C T intron_variant CLLE-ES 9 100953206 100953206 single base substitution G A intron_variant COAD-US 9 100889003 100889003 single base substitution C A missense_variant R425L 1274G>T COAD-US 9 100899934 100899934 single base substitution C T missense_variant G80R 238G>A COCA-CN 9 100888838 100888838 single base substitution T G missense_variant E480A 1439A>C COCA-CN 9 100890979 100890979 single base substitution G A synonymous_variant L330L 990C>T COCA-CN 9 100899190 100899190 single base substitution C T intron_variant COCA-CN 9 100907070 100907070 single base substitution C T intron_variant COCA-CN 9 100926027 100926027 single base substitution A T intron_variant COCA-CN 9 100926050 100926050 single base substitution G A intron_variant COCA-CN 9 100943397 100943397 single base substitution A C intron_variant COCA-CN 9 100943745 100943745 single base substitution T A intron_variant COCA-CN 9 100952174 100952174 single base substitution T A intron_variant COCA-CN 9 100956295 100956295 single base substitution C T upstream_gene_variant EOPC-DE 9 100893880 100893880 single base substitution C T intron_variant EOPC-DE 9 100921332 100921332 single base substitution A C intron_variant EOPC-DE 9 100932464 100932464 single base substitution A C intron_variant EOPC-DE 9 100934816 100934816 single base substitution T C intron_variant EOPC-DE 9 100936136 100936136 single base substitution C T intron_variant EOPC-DE 9 100936136 100936136 single base substitution C T upstream_gene_variant EOPC-DE 9 100938326 100938326 single base substitution C T intron_variant EOPC-DE 9 100938326 100938326 single base substitution C T upstream_gene_variant ESAD-UK 9 100880827 100880827 single base substitution G T downstream_gene_variant ESAD-UK 9 100881162 100881162 single base substitution A G downstream_gene_variant ESAD-UK 9 100882265 100882265 single base substitution T A downstream_gene_variant ESAD-UK 9 100883078 100883078 single base substitution T A downstream_gene_variant ESAD-UK 9 100885645 100885645 single base substitution A T 3_prime_UTR_variant ESAD-UK 9 100888293 100888293 single base substitution C G intron_variant ESAD-UK 9 100888620 100888620 single base substitution A G intron_variant ESAD-UK 9 100889830 100889830 single base substitution G A intron_variant ESAD-UK 9 100892583 100892583 single base substitution G A intron_variant ESAD-UK 9 100895734 100895734 single base substitution G A intron_variant ESAD-UK 9 100897332 100897332 single base substitution G T intron_variant ESAD-UK 9 100902011 100902011 single base substitution G A intron_variant ESAD-UK 9 100904813 100904813 single base substitution T A intron_variant ESAD-UK 9 100906189 100906190 deletion of <=200bp AG - intron_variant ESAD-UK 9 100909821 100909821 single base substitution G T intron_variant ESAD-UK 9 100911511 100911511 single base substitution A G intron_variant ESAD-UK 9 100911937 100911939 deletion of <=200bp GGA - intron_variant ESAD-UK 9 100911942 100911942 single base substitution G C intron_variant ESAD-UK 9 100912305 100912305 single base substitution C T intron_variant ESAD-UK 9 100913345 100913345 single base substitution C A intron_variant ESAD-UK 9 100919207 100919207 single base substitution A G intron_variant ESAD-UK 9 100919387 100919387 single base substitution G T intron_variant ESAD-UK 9 100921968 100921968 single base substitution G A intron_variant ESAD-UK 9 100926580 100926580 single base substitution T C intron_variant ESAD-UK 9 100926585 100926585 single base substitution C A intron_variant ESAD-UK 9 100926751 100926751 single base substitution C T intron_variant ESAD-UK 9 100928013 100928013 single base substitution C T intron_variant ESAD-UK 9 100929707 100929707 single base substitution G T intron_variant ESAD-UK 9 100936428 100936428 single base substitution A C intron_variant ESAD-UK 9 100936428 100936428 single base substitution A C upstream_gene_variant ESAD-UK 9 100937743 100937743 single base substitution A T intron_variant ESAD-UK 9 100937743 100937743 single base substitution A T upstream_gene_variant ESAD-UK 9 100937746 100937746 single base substitution T C intron_variant ESAD-UK 9 100937746 100937746 single base substitution T C upstream_gene_variant ESAD-UK 9 100940517 100940517 single base substitution C T intron_variant ESAD-UK 9 100942217 100942217 single base substitution G A intron_variant ESAD-UK 9 100945559 100945559 single base substitution C A intron_variant ESAD-UK 9 100949932 100949932 single base substitution C G intron_variant ESAD-UK 9 100951760 100951760 single base substitution G C intron_variant ESAD-UK 9 100956843 100956843 single base substitution A C upstream_gene_variant GBM-US 9 100897128 100897128 single base substitution G A missense_variant T143M 428C>T KIRC-US 9 100899899 100899899 single base substitution G C missense_variant N91K 273C>G KIRC-US 9 100919886 100919886 insertion of <=200bp - G frameshift_variant P19P? KIRP-US 9 100899870 100899870 single base substitution C A missense_variant C101F 302G>T LAML-KR 9 100881364 100881364 single base substitution C A downstream_gene_variant LGG-US 9 100897160 100897160 single base substitution C T synonymous_variant A132A 396G>A LGG-US 9 100897226 100897226 single base substitution C A missense_variant W110C 330G>T LICA-CN 9 100893274 100893274 single base substitution T A missense_variant Y278F 833A>T LICA-FR 9 100903632 100903632 deletion of <=200bp T - intron_variant LICA-FR 9 100906211 100906211 single base substitution T C intron_variant LICA-FR 9 100908084 100908084 single base substitution T A intron_variant LICA-FR 9 100915689 100915689 deletion of <=200bp T - intron_variant LICA-FR 9 100918332 100918333 deletion of <=200bp TT - intron_variant LICA-FR 9 100940528 100940528 single base substitution T C intron_variant LICA-FR 9 100947663 100947663 single base substitution T C intron_variant LICA-FR 9 100950308 100950308 single base substitution T C intron_variant LICA-FR 9 100956271 100956271 single base substitution G C upstream_gene_variant LINC-JP 9 100893189 100893189 single base substitution G A intron_variant LINC-JP 9 100893274 100893274 single base substitution T C missense_variant Y278C 833A>G LINC-JP 9 100913314 100913314 single base substitution G A intron_variant LINC-JP 9 100914421 100914421 single base substitution G T intron_variant LINC-JP 9 100918382 100918382 single base substitution G C intron_variant LINC-JP 9 100926933 100926933 single base substitution C T intron_variant LINC-JP 9 100931046 100931046 single base substitution C G intron_variant LINC-JP 9 100955052 100955052 single base substitution C G upstream_gene_variant LINC-JP 9 100955880 100955880 single base substitution G C upstream_gene_variant LIRI-JP 9 100880834 100880834 deletion of <=200bp G - downstream_gene_variant LIRI-JP 9 100887756 100887756 single base substitution A C intron_variant LIRI-JP 9 100889070 100889070 single base substitution G T missense_variant L403M 1207C>A LIRI-JP 9 100894003 100894003 single base substitution G A intron_variant LIRI-JP 9 100894278 100894278 single base substitution G A intron_variant LIRI-JP 9 100896623 100896623 single base substitution T A intron_variant LIRI-JP 9 100899865 100899865 single base substitution C T missense_variant E103K 307G>A LIRI-JP 9 100901292 100901292 single base substitution G T intron_variant LIRI-JP 9 100902545 100902545 single base substitution G C intron_variant LIRI-JP 9 100904465 100904465 single base substitution G T intron_variant LIRI-JP 9 100906327 100906327 single base substitution C A intron_variant LIRI-JP 9 100907577 100907577 single base substitution G T intron_variant LIRI-JP 9 100909371 100909371 single base substitution A T intron_variant LIRI-JP 9 100914681 100914681 single base substitution C T intron_variant LIRI-JP 9 100916348 100916348 single base substitution A G intron_variant LIRI-JP 9 100918081 100918081 single base substitution T G intron_variant LIRI-JP 9 100921296 100921296 single base substitution C T intron_variant LIRI-JP 9 100923819 100923819 single base substitution G C intron_variant LIRI-JP 9 100924470 100924470 single base substitution C T intron_variant LIRI-JP 9 100926897 100926898 deletion of <=200bp TG - intron_variant LIRI-JP 9 100927389 100927389 single base substitution C A intron_variant LIRI-JP 9 100933381 100933381 single base substitution G A intron_variant LIRI-JP 9 100937734 100937734 single base substitution A T intron_variant LIRI-JP 9 100937734 100937734 single base substitution A T upstream_gene_variant LIRI-JP 9 100939217 100939217 deletion of <=200bp C - intron_variant LIRI-JP 9 100939217 100939217 deletion of <=200bp C - upstream_gene_variant LIRI-JP 9 100939399 100939399 single base substitution G T intron_variant LIRI-JP 9 100939399 100939399 single base substitution G T upstream_gene_variant LIRI-JP 9 100941649 100941649 single base substitution G A intron_variant LIRI-JP 9 100942463 100942463 single base substitution T C intron_variant LIRI-JP 9 100943254 100943254 single base substitution C T intron_variant LIRI-JP 9 100945259 100945259 single base substitution T C intron_variant LIRI-JP 9 100945607 100945607 single base substitution A G intron_variant LIRI-JP 9 100946415 100946415 single base substitution G A intron_variant LIRI-JP 9 100952551 100952551 single base substitution G C intron_variant LIRI-JP 9 100956296 100956296 single base substitution G A upstream_gene_variant LIRI-JP 9 100959773 100959773 single base substitution G C upstream_gene_variant LUSC-CN 9 100894596 100894596 single base substitution G A intron_variant LUSC-KR 9 100880859 100880859 single base substitution T C downstream_gene_variant LUSC-KR 9 100882098 100882098 single base substitution T G downstream_gene_variant LUSC-KR 9 100885779 100885779 single base substitution T C 3_prime_UTR_variant LUSC-KR 9 100886313 100886313 single base substitution G T 3_prime_UTR_variant LUSC-KR 9 100891618 100891618 single base substitution C A intron_variant LUSC-KR 9 100891619 100891619 single base substitution C A intron_variant LUSC-KR 9 100891993 100891993 single base substitution C T intron_variant LUSC-KR 9 100895443 100895443 single base substitution C T synonymous_variant T175T 525G>A LUSC-KR 9 100899519 100899519 single base substitution C A intron_variant LUSC-KR 9 100903974 100903974 single base substitution C A intron_variant LUSC-KR 9 100906080 100906080 single base substitution T C intron_variant LUSC-KR 9 100907830 100907830 single base substitution G A intron_variant LUSC-KR 9 100910379 100910379 single base substitution G A intron_variant LUSC-KR 9 100915947 100915947 single base substitution C T intron_variant LUSC-KR 9 100919754 100919754 single base substitution G T synonymous_variant I63I 189C>A LUSC-KR 9 100926027 100926027 single base substitution A T intron_variant LUSC-KR 9 100928180 100928180 single base substitution C G intron_variant LUSC-KR 9 100934616 100934616 single base substitution C G intron_variant LUSC-KR 9 100937805 100937805 single base substitution T A intron_variant LUSC-KR 9 100937805 100937805 single base substitution T A upstream_gene_variant LUSC-US 9 100881413 100881413 single base substitution A G downstream_gene_variant LUSC-US 9 100888860 100888860 single base substitution C T missense_variant E473K 1417G>A MALY-DE 9 100879559 100879559 insertion of <=200bp - TTTA downstream_gene_variant MALY-DE 9 100885646 100885646 single base substitution T A 3_prime_UTR_variant MALY-DE 9 100889660 100889660 single base substitution G C intron_variant MALY-DE 9 100895623 100895623 single base substitution G T intron_variant MALY-DE 9 100900889 100900889 single base substitution G T intron_variant MALY-DE 9 100904382 100904382 single base substitution G T intron_variant MALY-DE 9 100914225 100914225 single base substitution T C intron_variant MALY-DE 9 100914529 100914529 single base substitution C T intron_variant MALY-DE 9 100914587 100914587 single base substitution T G intron_variant MALY-DE 9 100917809 100917809 single base substitution A C intron_variant MALY-DE 9 100921119 100921120 deletion of <=200bp AC - intron_variant MELA-AU 9 100878898 100878898 single base substitution C T downstream_gene_variant MELA-AU 9 100878911 100878911 single base substitution G A downstream_gene_variant MELA-AU 9 100879559 100879559 insertion of <=200bp - TTTA downstream_gene_variant MELA-AU 9 100880246 100880246 single base substitution G A downstream_gene_variant MELA-AU 9 100881520 100881520 single base substitution G A downstream_gene_variant MELA-AU 9 100881564 100881564 single base substitution C T downstream_gene_variant MELA-AU 9 100882220 100882220 single base substitution C G downstream_gene_variant MELA-AU 9 100882705 100882705 single base substitution A G downstream_gene_variant MELA-AU 9 100883072 100883072 single base substitution C T downstream_gene_variant MELA-AU 9 100883073 100883073 single base substitution C T downstream_gene_variant MELA-AU 9 100883105 100883106 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 100883454 100883454 single base substitution C T 3_prime_UTR_variant MELA-AU 9 100883522 100883522 single base substitution G A 3_prime_UTR_variant MELA-AU 9 100883751 100883751 single base substitution C T 3_prime_UTR_variant MELA-AU 9 100884600 100884600 single base substitution G A 3_prime_UTR_variant MELA-AU 9 100884734 100884734 single base substitution C T 3_prime_UTR_variant MELA-AU 9 100885395 100885395 single base substitution A T 3_prime_UTR_variant MELA-AU 9 100885702 100885702 single base substitution G A 3_prime_UTR_variant MELA-AU 9 100885873 100885873 single base substitution T C 3_prime_UTR_variant MELA-AU 9 100886263 100886263 single base substitution G A 3_prime_UTR_variant MELA-AU 9 100886389 100886389 single base substitution G A 3_prime_UTR_variant MELA-AU 9 100886628 100886628 single base substitution C T 3_prime_UTR_variant MELA-AU 9 100886848 100886848 single base substitution A T 3_prime_UTR_variant MELA-AU 9 100886909 100886909 single base substitution G A 3_prime_UTR_variant MELA-AU 9 100888049 100888049 single base substitution G A intron_variant MELA-AU 9 100888293 100888293 single base substitution C T intron_variant MELA-AU 9 100888416 100888416 single base substitution C T intron_variant MELA-AU 9 100888617 100888617 single base substitution C T intron_variant MELA-AU 9 100888860 100888860 single base substitution C T missense_variant E473K 1417G>A MELA-AU 9 100889462 100889462 single base substitution A C intron_variant MELA-AU 9 100889467 100889467 single base substitution C T intron_variant MELA-AU 9 100889472 100889472 single base substitution A G intron_variant MELA-AU 9 100889583 100889583 single base substitution G A intron_variant MELA-AU 9 100889614 100889614 single base substitution C T intron_variant MELA-AU 9 100889657 100889657 single base substitution G A intron_variant MELA-AU 9 100889765 100889765 single base substitution G A intron_variant MELA-AU 9 100889860 100889860 single base substitution G A intron_variant MELA-AU 9 100889870 100889870 single base substitution G A intron_variant MELA-AU 9 100890076 100890076 single base substitution G A intron_variant MELA-AU 9 100890157 100890157 single base substitution G A intron_variant MELA-AU 9 100890163 100890163 single base substitution G A intron_variant MELA-AU 9 100890390 100890391 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 100890437 100890437 single base substitution C T intron_variant MELA-AU 9 100890596 100890596 single base substitution G A intron_variant MELA-AU 9 100890662 100890662 single base substitution C T intron_variant MELA-AU 9 100890740 100890740 single base substitution C T intron_variant MELA-AU 9 100890853 100890853 single base substitution C T intron_variant MELA-AU 9 100891243 100891243 single base substitution C T intron_variant MELA-AU 9 100892075 100892075 single base substitution C T splice_donor_variant MELA-AU 9 100892077 100892077 single base substitution G A splice_region_variant MELA-AU 9 100892190 100892190 single base substitution G A intron_variant MELA-AU 9 100892195 100892195 single base substitution G A intron_variant MELA-AU 9 100892758 100892758 single base substitution C T intron_variant MELA-AU 9 100893119 100893119 single base substitution G A intron_variant MELA-AU 9 100893279 100893279 single base substitution G A synonymous_variant P276P 828C>T MELA-AU 9 100893349 100893349 single base substitution G A splice_region_variant MELA-AU 9 100893350 100893350 single base substitution G A intron_variant MELA-AU 9 100893367 100893367 single base substitution G A intron_variant MELA-AU 9 100893380 100893380 single base substitution C T intron_variant MELA-AU 9 100893838 100893838 single base substitution T G intron_variant MELA-AU 9 100893995 100893995 single base substitution G A intron_variant MELA-AU 9 100894265 100894265 single base substitution C T intron_variant MELA-AU 9 100894278 100894278 single base substitution G A intron_variant MELA-AU 9 100894344 100894344 single base substitution G A intron_variant MELA-AU 9 100894491 100894491 single base substitution G A synonymous_variant N247N 741C>T MELA-AU 9 100894536 100894536 single base substitution C T synonymous_variant G232G 696G>A MELA-AU 9 100894640 100894640 single base substitution G A intron_variant MELA-AU 9 100894762 100894762 single base substitution G A intron_variant MELA-AU 9 100894871 100894871 single base substitution G A intron_variant MELA-AU 9 100894876 100894876 single base substitution G A intron_variant MELA-AU 9 100895134 100895134 single base substitution C T intron_variant MELA-AU 9 100895147 100895147 single base substitution G A intron_variant MELA-AU 9 100895342 100895342 single base substitution G A missense_variant P209L 626C>T MELA-AU 9 100895676 100895676 single base substitution G A intron_variant MELA-AU 9 100896071 100896071 single base substitution G A intron_variant MELA-AU 9 100896251 100896251 single base substitution C T intron_variant MELA-AU 9 100896402 100896402 single base substitution G A intron_variant MELA-AU 9 100896616 100896616 single base substitution G A intron_variant MELA-AU 9 100896680 100896681 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 100896731 100896732 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 100896823 100896823 single base substitution G A intron_variant MELA-AU 9 100897189 100897189 single base substitution C T missense_variant A123T 367G>A MELA-AU 9 100897238 100897238 single base substitution C T splice_acceptor_variant MELA-AU 9 100897350 100897350 single base substitution C T intron_variant MELA-AU 9 100897557 100897557 single base substitution C T intron_variant MELA-AU 9 100897600 100897600 single base substitution C T intron_variant MELA-AU 9 100897641 100897641 single base substitution G A intron_variant MELA-AU 9 100897958 100897958 single base substitution C T intron_variant MELA-AU 9 100898142 100898142 single base substitution C T intron_variant MELA-AU 9 100898192 100898192 single base substitution C T intron_variant MELA-AU 9 100898432 100898432 single base substitution G A intron_variant MELA-AU 9 100898547 100898547 single base substitution G A intron_variant MELA-AU 9 100898654 100898654 single base substitution C T intron_variant MELA-AU 9 100898807 100898807 single base substitution G C intron_variant MELA-AU 9 100899038 100899038 single base substitution G A intron_variant MELA-AU 9 100899073 100899073 single base substitution G A intron_variant MELA-AU 9 100899141 100899141 single base substitution T A intron_variant MELA-AU 9 100899215 100899215 single base substitution C T intron_variant MELA-AU 9 100899658 100899658 single base substitution G A intron_variant MELA-AU 9 100899660 100899661 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 100899937 100899937 single base substitution A G missense_variant C79R 235T>C MELA-AU 9 100900218 100900218 single base substitution G A intron_variant MELA-AU 9 100900358 100900358 single base substitution T G intron_variant MELA-AU 9 100900421 100900421 single base substitution C T intron_variant MELA-AU 9 100900752 100900752 single base substitution C T intron_variant MELA-AU 9 100901567 100901567 single base substitution G A intron_variant MELA-AU 9 100901903 100901903 single base substitution C T intron_variant MELA-AU 9 100902175 100902175 single base substitution A G intron_variant MELA-AU 9 100902400 100902400 single base substitution C T intron_variant MELA-AU 9 100902445 100902445 single base substitution A T intron_variant MELA-AU 9 100902851 100902851 single base substitution C T intron_variant MELA-AU 9 100903156 100903156 single base substitution C T intron_variant MELA-AU 9 100903416 100903416 single base substitution G A intron_variant MELA-AU 9 100903572 100903572 single base substitution G A intron_variant MELA-AU 9 100903582 100903582 single base substitution G A intron_variant MELA-AU 9 100903664 100903664 single base substitution C T intron_variant MELA-AU 9 100903697 100903697 single base substitution G A intron_variant MELA-AU 9 100903909 100903909 single base substitution T G intron_variant MELA-AU 9 100903997 100903997 single base substitution G A intron_variant MELA-AU 9 100904711 100904711 single base substitution C T intron_variant MELA-AU 9 100905401 100905401 single base substitution C T intron_variant MELA-AU 9 100905410 100905411 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 100905458 100905458 single base substitution C T intron_variant MELA-AU 9 100905581 100905581 single base substitution G A intron_variant MELA-AU 9 100905805 100905805 single base substitution C T intron_variant MELA-AU 9 100906683 100906683 single base substitution G A intron_variant MELA-AU 9 100906746 100906746 single base substitution C T intron_variant MELA-AU 9 100906794 100906794 single base substitution G A intron_variant MELA-AU 9 100906939 100906939 single base substitution G A intron_variant MELA-AU 9 100906999 100906999 single base substitution G A intron_variant MELA-AU 9 100907306 100907306 single base substitution G A intron_variant MELA-AU 9 100907357 100907357 single base substitution C T intron_variant MELA-AU 9 100907425 100907425 single base substitution C T intron_variant MELA-AU 9 100907433 100907433 single base substitution G A intron_variant MELA-AU 9 100907847 100907847 single base substitution C T intron_variant MELA-AU 9 100908340 100908340 single base substitution C T intron_variant MELA-AU 9 100908448 100908448 single base substitution C T intron_variant MELA-AU 9 100909107 100909107 single base substitution C T intron_variant MELA-AU 9 100909630 100909631 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 9 100909863 100909863 single base substitution G A intron_variant MELA-AU 9 100909993 100909993 single base substitution A C intron_variant MELA-AU 9 100910033 100910033 single base substitution T C intron_variant MELA-AU 9 100910350 100910350 single base substitution G A intron_variant MELA-AU 9 100910697 100910697 single base substitution A T intron_variant MELA-AU 9 100910801 100910801 single base substitution C T intron_variant MELA-AU 9 100911716 100911716 single base substitution A G intron_variant MELA-AU 9 100911815 100911815 single base substitution G A intron_variant MELA-AU 9 100912337 100912337 single base substitution C T intron_variant MELA-AU 9 100912448 100912448 single base substitution C T intron_variant MELA-AU 9 100912544 100912544 single base substitution C T intron_variant MELA-AU 9 100912892 100912892 single base substitution C T intron_variant MELA-AU 9 100912972 100912972 single base substitution G A intron_variant MELA-AU 9 100913022 100913022 single base substitution C T intron_variant MELA-AU 9 100913701 100913701 single base substitution C T intron_variant MELA-AU 9 100914007 100914007 single base substitution C T intron_variant MELA-AU 9 100914206 100914206 single base substitution C T intron_variant MELA-AU 9 100914974 100914974 single base substitution G A intron_variant MELA-AU 9 100915370 100915370 single base substitution C T intron_variant MELA-AU 9 100915628 100915628 single base substitution C T intron_variant MELA-AU 9 100915683 100915683 single base substitution G A intron_variant MELA-AU 9 100915779 100915779 single base substitution C T intron_variant MELA-AU 9 100916200 100916200 single base substitution G A intron_variant MELA-AU 9 100917020 100917020 single base substitution C T intron_variant MELA-AU 9 100917095 100917095 single base substitution G A intron_variant MELA-AU 9 100917215 100917215 single base substitution G A intron_variant MELA-AU 9 100917607 100917607 single base substitution G A intron_variant MELA-AU 9 100917709 100917709 single base substitution A G intron_variant MELA-AU 9 100917780 100917780 single base substitution C A intron_variant MELA-AU 9 100917955 100917955 single base substitution G T intron_variant MELA-AU 9 100918136 100918136 single base substitution G A intron_variant MELA-AU 9 100918592 100918592 single base substitution G A intron_variant MELA-AU 9 100919072 100919072 single base substitution C T intron_variant MELA-AU 9 100919255 100919256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 100919446 100919446 single base substitution C T intron_variant MELA-AU 9 100920288 100920288 single base substitution C T intron_variant MELA-AU 9 100920501 100920501 single base substitution G A intron_variant MELA-AU 9 100921186 100921186 single base substitution G A intron_variant MELA-AU 9 100921319 100921319 single base substitution C T intron_variant MELA-AU 9 100921817 100921817 single base substitution C T intron_variant MELA-AU 9 100921906 100921906 single base substitution C T intron_variant MELA-AU 9 100922064 100922064 single base substitution C T intron_variant MELA-AU 9 100922129 100922129 single base substitution C T intron_variant MELA-AU 9 100922234 100922234 single base substitution G A intron_variant MELA-AU 9 100922550 100922550 single base substitution G A intron_variant MELA-AU 9 100922589 100922589 single base substitution G A intron_variant MELA-AU 9 100922855 100922855 single base substitution G A intron_variant MELA-AU 9 100922937 100922938 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 9 100923013 100923013 single base substitution T C intron_variant MELA-AU 9 100923062 100923062 single base substitution C T intron_variant MELA-AU 9 100923790 100923790 single base substitution C T intron_variant MELA-AU 9 100923805 100923805 single base substitution C T intron_variant MELA-AU 9 100924147 100924147 single base substitution C T intron_variant MELA-AU 9 100924784 100924784 single base substitution C T intron_variant MELA-AU 9 100924797 100924797 single base substitution C T intron_variant MELA-AU 9 100924805 100924805 single base substitution G A intron_variant MELA-AU 9 100925226 100925226 single base substitution C T intron_variant MELA-AU 9 100925342 100925342 single base substitution C T intron_variant MELA-AU 9 100925416 100925416 single base substitution C T intron_variant MELA-AU 9 100925519 100925519 single base substitution G A intron_variant MELA-AU 9 100926012 100926012 single base substitution A G intron_variant MELA-AU 9 100926091 100926091 single base substitution G A intron_variant MELA-AU 9 100926585 100926586 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 100926818 100926818 single base substitution C T intron_variant MELA-AU 9 100927228 100927228 single base substitution C T intron_variant MELA-AU 9 100927831 100927831 single base substitution T C intron_variant MELA-AU 9 100927887 100927887 single base substitution G A intron_variant MELA-AU 9 100928165 100928165 single base substitution G A intron_variant MELA-AU 9 100928717 100928717 single base substitution G A intron_variant MELA-AU 9 100928747 100928747 single base substitution G A intron_variant MELA-AU 9 100929162 100929162 single base substitution C T intron_variant MELA-AU 9 100929404 100929404 single base substitution A T intron_variant MELA-AU 9 100931185 100931185 single base substitution C T intron_variant MELA-AU 9 100931798 100931798 single base substitution C T intron_variant MELA-AU 9 100932658 100932659 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 9 100933061 100933062 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 9 100933346 100933346 single base substitution C T intron_variant MELA-AU 9 100933360 100933360 single base substitution T A intron_variant MELA-AU 9 100933623 100933623 single base substitution C T intron_variant MELA-AU 9 100933656 100933656 single base substitution G A intron_variant MELA-AU 9 100934336 100934336 single base substitution A T intron_variant MELA-AU 9 100934809 100934809 single base substitution G A intron_variant MELA-AU 9 100935968 100935968 single base substitution C T intron_variant MELA-AU 9 100935968 100935968 single base substitution C T upstream_gene_variant MELA-AU 9 100936093 100936093 single base substitution G A intron_variant MELA-AU 9 100936093 100936093 single base substitution G A upstream_gene_variant MELA-AU 9 100936170 100936170 single base substitution G A intron_variant MELA-AU 9 100936170 100936170 single base substitution G A upstream_gene_variant MELA-AU 9 100936388 100936388 single base substitution C T intron_variant MELA-AU 9 100936388 100936388 single base substitution C T upstream_gene_variant MELA-AU 9 100936520 100936520 single base substitution C T intron_variant MELA-AU 9 100936520 100936520 single base substitution C T upstream_gene_variant MELA-AU 9 100936590 100936590 single base substitution G A intron_variant MELA-AU 9 100936590 100936590 single base substitution G A upstream_gene_variant MELA-AU 9 100936857 100936857 single base substitution G A intron_variant MELA-AU 9 100936857 100936857 single base substitution G A upstream_gene_variant MELA-AU 9 100936968 100936968 single base substitution C T intron_variant MELA-AU 9 100936968 100936968 single base substitution C T upstream_gene_variant MELA-AU 9 100937095 100937095 single base substitution C T intron_variant MELA-AU 9 100937095 100937095 single base substitution C T upstream_gene_variant MELA-AU 9 100937426 100937426 single base substitution G A intron_variant MELA-AU 9 100937426 100937426 single base substitution G A upstream_gene_variant MELA-AU 9 100937589 100937589 single base substitution G A intron_variant MELA-AU 9 100937589 100937589 single base substitution G A upstream_gene_variant MELA-AU 9 100937853 100937853 single base substitution G A intron_variant MELA-AU 9 100937853 100937853 single base substitution G A upstream_gene_variant MELA-AU 9 100938086 100938086 single base substitution C T intron_variant MELA-AU 9 100938086 100938086 single base substitution C T upstream_gene_variant MELA-AU 9 100938305 100938305 single base substitution G A intron_variant MELA-AU 9 100938305 100938305 single base substitution G A upstream_gene_variant MELA-AU 9 100938639 100938639 single base substitution C T intron_variant MELA-AU 9 100938639 100938639 single base substitution C T upstream_gene_variant MELA-AU 9 100938674 100938674 single base substitution C G intron_variant MELA-AU 9 100938674 100938674 single base substitution C G upstream_gene_variant MELA-AU 9 100938707 100938707 single base substitution G A intron_variant MELA-AU 9 100938707 100938707 single base substitution G A upstream_gene_variant MELA-AU 9 100938893 100938893 single base substitution T C intron_variant MELA-AU 9 100938893 100938893 single base substitution T C upstream_gene_variant MELA-AU 9 100939013 100939013 single base substitution G A intron_variant MELA-AU 9 100939013 100939013 single base substitution G A upstream_gene_variant MELA-AU 9 100939030 100939030 single base substitution G A intron_variant MELA-AU 9 100939030 100939030 single base substitution G A upstream_gene_variant MELA-AU 9 100939099 100939099 single base substitution G A intron_variant MELA-AU 9 100939099 100939099 single base substitution G A upstream_gene_variant MELA-AU 9 100939118 100939118 single base substitution C A intron_variant MELA-AU 9 100939118 100939118 single base substitution C A upstream_gene_variant MELA-AU 9 100939144 100939144 single base substitution C T intron_variant MELA-AU 9 100939144 100939144 single base substitution C T upstream_gene_variant MELA-AU 9 100939586 100939586 single base substitution G A intron_variant MELA-AU 9 100939586 100939586 single base substitution G A upstream_gene_variant MELA-AU 9 100939635 100939635 single base substitution G A intron_variant MELA-AU 9 100939635 100939635 single base substitution G A upstream_gene_variant MELA-AU 9 100939994 100939994 single base substitution C T intron_variant MELA-AU 9 100939994 100939994 single base substitution C T upstream_gene_variant MELA-AU 9 100940353 100940353 single base substitution G A intron_variant MELA-AU 9 100940606 100940606 single base substitution G A intron_variant MELA-AU 9 100941107 100941107 single base substitution G A intron_variant MELA-AU 9 100941127 100941127 single base substitution G A intron_variant MELA-AU 9 100941147 100941147 single base substitution G A intron_variant MELA-AU 9 100941185 100941185 single base substitution G A intron_variant MELA-AU 9 100941500 100941500 single base substitution G A intron_variant MELA-AU 9 100942077 100942077 single base substitution G A intron_variant MELA-AU 9 100942239 100942239 single base substitution C T intron_variant MELA-AU 9 100942348 100942348 single base substitution G A intron_variant MELA-AU 9 100942485 100942485 single base substitution C T intron_variant MELA-AU 9 100942723 100942723 single base substitution G A intron_variant MELA-AU 9 100942737 100942737 single base substitution G A intron_variant MELA-AU 9 100942766 100942766 single base substitution G A intron_variant MELA-AU 9 100943298 100943298 single base substitution C T intron_variant MELA-AU 9 100943381 100943381 single base substitution G A intron_variant MELA-AU 9 100943491 100943491 single base substitution G A intron_variant MELA-AU 9 100943678 100943678 single base substitution G A intron_variant MELA-AU 9 100943813 100943813 single base substitution G A intron_variant MELA-AU 9 100944121 100944121 single base substitution G A intron_variant MELA-AU 9 100944319 100944319 single base substitution C T intron_variant MELA-AU 9 100944408 100944408 single base substitution C T intron_variant MELA-AU 9 100944841 100944841 single base substitution G A intron_variant MELA-AU 9 100944915 100944915 single base substitution A G intron_variant MELA-AU 9 100945001 100945001 single base substitution G A intron_variant MELA-AU 9 100945152 100945152 single base substitution C T intron_variant MELA-AU 9 100945382 100945382 single base substitution G A intron_variant MELA-AU 9 100945399 100945399 single base substitution G A intron_variant MELA-AU 9 100945726 100945726 single base substitution C T intron_variant MELA-AU 9 100945874 100945874 single base substitution A G intron_variant MELA-AU 9 100945906 100945906 single base substitution G A intron_variant MELA-AU 9 100946220 100946220 single base substitution G A intron_variant MELA-AU 9 100946411 100946411 single base substitution C T intron_variant MELA-AU 9 100946611 100946611 single base substitution C T intron_variant MELA-AU 9 100946806 100946806 single base substitution C T intron_variant MELA-AU 9 100947432 100947432 single base substitution G A intron_variant MELA-AU 9 100947737 100947738 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 100947938 100947938 single base substitution C T intron_variant MELA-AU 9 100948228 100948228 single base substitution G A intron_variant MELA-AU 9 100948265 100948265 single base substitution C T intron_variant MELA-AU 9 100948327 100948327 single base substitution C T intron_variant MELA-AU 9 100949010 100949010 single base substitution G A intron_variant MELA-AU 9 100949700 100949700 single base substitution C T intron_variant MELA-AU 9 100950844 100950844 single base substitution C T intron_variant MELA-AU 9 100950856 100950856 single base substitution G A intron_variant MELA-AU 9 100951265 100951265 single base substitution C T intron_variant MELA-AU 9 100951410 100951410 single base substitution G A intron_variant MELA-AU 9 100951482 100951482 single base substitution C T intron_variant MELA-AU 9 100951707 100951707 single base substitution A C intron_variant MELA-AU 9 100952164 100952164 single base substitution C T intron_variant MELA-AU 9 100952276 100952276 single base substitution C T intron_variant MELA-AU 9 100954006 100954006 single base substitution C T intron_variant MELA-AU 9 100954126 100954126 single base substitution C T intron_variant MELA-AU 9 100956903 100956903 single base substitution T A upstream_gene_variant MELA-AU 9 100957174 100957174 single base substitution G A upstream_gene_variant MELA-AU 9 100957415 100957415 single base substitution C T upstream_gene_variant MELA-AU 9 100957491 100957491 single base substitution C T upstream_gene_variant MELA-AU 9 100957492 100957492 single base substitution C T upstream_gene_variant MELA-AU 9 100957571 100957571 single base substitution G A upstream_gene_variant MELA-AU 9 100957617 100957617 single base substitution C T upstream_gene_variant MELA-AU 9 100957734 100957734 single base substitution G A upstream_gene_variant MELA-AU 9 100957769 100957769 single base substitution G A upstream_gene_variant MELA-AU 9 100957789 100957789 single base substitution G A upstream_gene_variant MELA-AU 9 100957833 100957833 single base substitution G A upstream_gene_variant MELA-AU 9 100958166 100958166 single base substitution G A upstream_gene_variant MELA-AU 9 100958176 100958177 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 9 100959569 100959569 single base substitution G A upstream_gene_variant MELA-AU 9 100959570 100959570 single base substitution G A upstream_gene_variant MELA-AU 9 100959868 100959868 single base substitution G A upstream_gene_variant MELA-AU 9 100959899 100959899 single base substitution G A upstream_gene_variant ORCA-IN 9 100884491 100884491 single base substitution C T 3_prime_UTR_variant ORCA-IN 9 100897159 100897159 single base substitution G A missense_variant R133C 397C>T ORCA-IN 9 100900871 100900871 single base substitution A G intron_variant ORCA-IN 9 100915929 100915929 single base substitution C A intron_variant ORCA-IN 9 100950259 100950259 single base substitution G C intron_variant OV-AU 9 100878272 100878272 single base substitution A C downstream_gene_variant OV-AU 9 100882108 100882108 single base substitution T G downstream_gene_variant OV-AU 9 100883737 100883737 single base substitution T C 3_prime_UTR_variant OV-AU 9 100888788 100888788 single base substitution C A intron_variant OV-AU 9 100893982 100893982 single base substitution A G intron_variant OV-AU 9 100894739 100894739 single base substitution C T intron_variant OV-AU 9 100896470 100896470 single base substitution C A intron_variant OV-AU 9 100896863 100896863 single base substitution A G intron_variant OV-AU 9 100911556 100911556 single base substitution C T intron_variant OV-AU 9 100912586 100912586 single base substitution C G intron_variant OV-AU 9 100915972 100915972 single base substitution A T intron_variant OV-AU 9 100920769 100920769 single base substitution C T intron_variant OV-AU 9 100931695 100931695 single base substitution G A intron_variant OV-AU 9 100933741 100933741 single base substitution C A intron_variant OV-AU 9 100937666 100937666 single base substitution G C intron_variant OV-AU 9 100937666 100937666 single base substitution G C upstream_gene_variant OV-AU 9 100938988 100938988 single base substitution G T intron_variant OV-AU 9 100938988 100938988 single base substitution G T upstream_gene_variant OV-AU 9 100945396 100945396 single base substitution C G intron_variant PACA-AU 9 100879559 100879562 deletion of <=200bp TTTA - downstream_gene_variant PACA-AU 9 100882849 100882849 deletion of <=200bp C - downstream_gene_variant PACA-AU 9 100893354 100893354 single base substitution G A intron_variant PACA-AU 9 100899750 100899750 single base substitution C T intron_variant PACA-AU 9 100906476 100906476 single base substitution A G intron_variant PACA-AU 9 100907346 100907346 single base substitution G T intron_variant PACA-AU 9 100909896 100909896 single base substitution G T intron_variant PACA-AU 9 100910345 100910345 single base substitution A T intron_variant PACA-AU 9 100913762 100913762 single base substitution C A intron_variant PACA-AU 9 100913867 100913867 single base substitution C T intron_variant PACA-AU 9 100916606 100916606 insertion of <=200bp - TG intron_variant PACA-AU 9 100930092 100930092 single base substitution C T intron_variant PACA-AU 9 100933368 100933368 single base substitution A C intron_variant PACA-AU 9 100942852 100942867 deletion of <=200bp TCTCCAAATACCCTCC - intron_variant PACA-AU 9 100959842 100959842 single base substitution G A upstream_gene_variant PACA-CA 9 100882068 100882068 single base substitution T G downstream_gene_variant PACA-CA 9 100887309 100887309 single base substitution G A intron_variant PACA-CA 9 100893148 100893148 single base substitution C T intron_variant PACA-CA 9 100901417 100901417 single base substitution G A intron_variant PACA-CA 9 100901571 100901571 single base substitution A C intron_variant PACA-CA 9 100901905 100901905 single base substitution T C intron_variant PACA-CA 9 100907242 100907242 single base substitution G A intron_variant PACA-CA 9 100919807 100919807 single base substitution G C missense_variant H46D 136C>G PACA-CA 9 100920179 100920179 single base substitution G A intron_variant PACA-CA 9 100920757 100920757 single base substitution C A intron_variant PACA-CA 9 100923489 100923489 single base substitution A G intron_variant PACA-CA 9 100932939 100932939 single base substitution T C intron_variant PACA-CA 9 100932964 100932964 single base substitution A G intron_variant PACA-CA 9 100940102 100940102 single base substitution G T intron_variant PACA-CA 9 100940102 100940102 single base substitution G T upstream_gene_variant PACA-CA 9 100947009 100947009 single base substitution G C intron_variant PACA-CA 9 100953070 100953070 single base substitution A T intron_variant PACA-CA 9 100954948 100954948 single base substitution C A upstream_gene_variant PACA-CA 9 100958931 100958931 single base substitution A G upstream_gene_variant PAEN-AU 9 100936334 100936334 single base substitution A G intron_variant PAEN-AU 9 100936334 100936334 single base substitution A G upstream_gene_variant PAEN-IT 9 100897479 100897479 single base substitution A G intron_variant PAEN-IT 9 100945152 100945152 single base substitution C G intron_variant PBCA-DE 9 100885142 100885142 single base substitution C T 3_prime_UTR_variant PBCA-DE 9 100888311 100888311 single base substitution A C intron_variant PBCA-DE 9 100888452 100888452 single base substitution G A intron_variant PBCA-DE 9 100889668 100889668 single base substitution G T intron_variant PBCA-DE 9 100890926 100890926 single base substitution C T missense_variant S348N 1043G>A PBCA-DE 9 100919233 100919233 single base substitution T C intron_variant PRAD-CA 9 100899476 100899476 single base substitution G A intron_variant PRAD-CA 9 100906760 100906760 single base substitution A C intron_variant PRAD-CA 9 100921469 100921469 single base substitution T C intron_variant PRAD-CA 9 100925752 100925752 single base substitution G A intron_variant PRAD-UK 9 100895938 100895938 single base substitution A G intron_variant PRAD-UK 9 100907295 100907295 single base substitution A G intron_variant PRAD-UK 9 100920728 100920728 single base substitution T C intron_variant PRAD-UK 9 100920754 100920754 single base substitution T C intron_variant PRAD-UK 9 100927150 100927150 single base substitution G C intron_variant PRAD-UK 9 100928187 100928187 single base substitution A C intron_variant PRAD-UK 9 100935522 100935526 deletion of <=200bp TTCCC - intron_variant PRAD-UK 9 100935522 100935526 deletion of <=200bp TTCCC - upstream_gene_variant PRAD-UK 9 100946258 100946258 single base substitution C A intron_variant PRAD-UK 9 100946342 100946342 single base substitution G T intron_variant PRAD-UK 9 100948668 100948668 single base substitution A G intron_variant RECA-EU 9 100880504 100880504 single base substitution G T downstream_gene_variant RECA-EU 9 100885779 100885779 single base substitution T C 3_prime_UTR_variant RECA-EU 9 100889049 100889049 single base substitution G T missense_variant P410T 1228C>A RECA-EU 9 100892896 100892896 single base substitution G T intron_variant RECA-EU 9 100895476 100895476 single base substitution T A synonymous_variant T164T 492A>T RECA-EU 9 100897801 100897801 single base substitution T C intron_variant RECA-EU 9 100900796 100900796 single base substitution C T intron_variant RECA-EU 9 100901050 100901050 single base substitution G C intron_variant RECA-EU 9 100907299 100907299 single base substitution T A intron_variant RECA-EU 9 100910307 100910307 single base substitution T A intron_variant RECA-EU 9 100913412 100913412 single base substitution A T intron_variant RECA-EU 9 100919721 100919721 single base substitution T A intron_variant RECA-EU 9 100936793 100936793 single base substitution G C intron_variant RECA-EU 9 100936793 100936793 single base substitution G C upstream_gene_variant SKCA-BR 9 100879127 100879128 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 9 100881575 100881575 single base substitution T C downstream_gene_variant SKCA-BR 9 100882232 100882232 single base substitution G A downstream_gene_variant SKCA-BR 9 100883520 100883520 single base substitution T C 3_prime_UTR_variant SKCA-BR 9 100884084 100884084 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 100884902 100884902 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 100885292 100885292 single base substitution C G 3_prime_UTR_variant SKCA-BR 9 100886296 100886296 insertion of <=200bp - CT 3_prime_UTR_variant SKCA-BR 9 100887368 100887368 single base substitution G A intron_variant SKCA-BR 9 100887835 100887835 single base substitution G A intron_variant SKCA-BR 9 100889454 100889454 single base substitution C T intron_variant SKCA-BR 9 100891068 100891068 single base substitution C T intron_variant SKCA-BR 9 100892884 100892884 single base substitution G A intron_variant SKCA-BR 9 100893406 100893406 single base substitution G A intron_variant SKCA-BR 9 100894297 100894297 single base substitution C T intron_variant SKCA-BR 9 100895677 100895677 single base substitution A G intron_variant SKCA-BR 9 100895724 100895724 single base substitution A C intron_variant SKCA-BR 9 100899394 100899394 single base substitution C T intron_variant SKCA-BR 9 100900693 100900693 insertion of <=200bp - CA intron_variant SKCA-BR 9 100901149 100901149 single base substitution T G intron_variant SKCA-BR 9 100901327 100901327 insertion of <=200bp - CA intron_variant SKCA-BR 9 100903770 100903770 single base substitution G A intron_variant SKCA-BR 9 100905148 100905148 single base substitution G C intron_variant SKCA-BR 9 100906969 100906969 single base substitution G A intron_variant SKCA-BR 9 100908542 100908542 single base substitution A C intron_variant SKCA-BR 9 100908968 100908968 single base substitution T A intron_variant SKCA-BR 9 100910381 100910381 single base substitution A G intron_variant SKCA-BR 9 100910812 100910812 insertion of <=200bp - AG intron_variant SKCA-BR 9 100911033 100911033 insertion of <=200bp - CAAACAAAACAAAACA intron_variant SKCA-BR 9 100912386 100912386 single base substitution C T intron_variant SKCA-BR 9 100912990 100912990 single base substitution G A intron_variant SKCA-BR 9 100917125 100917125 single base substitution G A intron_variant SKCA-BR 9 100919251 100919251 single base substitution T C intron_variant SKCA-BR 9 100923708 100923708 single base substitution C T intron_variant SKCA-BR 9 100927376 100927376 single base substitution G A intron_variant SKCA-BR 9 100928614 100928614 single base substitution G A intron_variant SKCA-BR 9 100930369 100930369 single base substitution C T intron_variant SKCA-BR 9 100935552 100935552 single base substitution G A intron_variant SKCA-BR 9 100935552 100935552 single base substitution G A upstream_gene_variant SKCA-BR 9 100935553 100935553 single base substitution G A intron_variant SKCA-BR 9 100935553 100935553 single base substitution G A upstream_gene_variant SKCA-BR 9 100935675 100935675 single base substitution G C intron_variant SKCA-BR 9 100935675 100935675 single base substitution G C upstream_gene_variant SKCA-BR 9 100938765 100938765 single base substitution T C intron_variant SKCA-BR 9 100938765 100938765 single base substitution T C upstream_gene_variant SKCA-BR 9 100942348 100942348 single base substitution G A intron_variant SKCA-BR 9 100942834 100942834 single base substitution C T intron_variant SKCA-BR 9 100943003 100943003 single base substitution T A intron_variant SKCA-BR 9 100943397 100943397 single base substitution A C intron_variant SKCA-BR 9 100946887 100946887 single base substitution C T intron_variant SKCA-BR 9 100948134 100948134 single base substitution G A intron_variant SKCA-BR 9 100950241 100950241 single base substitution G A intron_variant SKCA-BR 9 100950570 100950570 single base substitution C T intron_variant SKCA-BR 9 100952173 100952173 single base substitution T A intron_variant SKCA-BR 9 100954285 100954285 single base substitution G A intron_variant SKCA-BR 9 100954368 100954368 single base substitution A C intron_variant SKCA-BR 9 100955008 100955008 single base substitution T C upstream_gene_variant SKCA-BR 9 100955010 100955010 single base substitution T C upstream_gene_variant SKCA-BR 9 100955782 100955782 single base substitution A C upstream_gene_variant SKCM-US 9 100888860 100888860 single base substitution C T missense_variant E473K 1417G>A SKCM-US 9 100888950 100888950 single base substitution A T missense_variant S443T 1327T>A SKCM-US 9 100888951 100888951 single base substitution G A synonymous_variant S442S 1326C>T SKCM-US 9 100888952 100888952 single base substitution G A missense_variant S442F 1325C>T SKCM-US 9 100890474 100890474 single base substitution C T synonymous_variant E383E 1149G>A SKCM-US 9 100890493 100890493 single base substitution G A missense_variant P377L 1130C>T SKCM-US 9 100890913 100890913 single base substitution G A synonymous_variant P352P 1056C>T SKCM-US 9 100890919 100890919 single base substitution G A synonymous_variant I350I 1050C>T SKCM-US 9 100892148 100892148 single base substitution C T missense_variant E299K 895G>A SKCM-US 9 100895494 100895494 single base substitution C T missense_variant M158I 474G>A SKCM-US 9 100897173 100897173 single base substitution A C missense_variant L128R 383T>G SKCM-US 9 100897189 100897189 single base substitution C T missense_variant A123T 367G>A SKCM-US 9 100897226 100897226 single base substitution C T stop_gained W110* 330G>A SKCM-US 9 100899903 100899903 single base substitution C T stop_gained W90* 269G>A SKCM-US 9 100919753 100919753 single base substitution G A missense_variant P64S 190C>T SKCM-US 9 100919807 100919807 single base substitution G A missense_variant H46Y 136C>T SKCM-US 9 100919812 100919812 single base substitution T C missense_variant N44S 131A>G STAD-US 9 100887136 100887136 single base substitution G A synonymous_variant L500L 1498C>T STAD-US 9 100890891 100890891 single base substitution G A missense_variant R360W 1078C>T STAD-US 9 100892136 100892136 single base substitution C T missense_variant D303N 907G>A STAD-US 9 100895424 100895424 single base substitution C T missense_variant V182M 544G>A STAD-US 9 100897159 100897159 single base substitution G A missense_variant R133C 397C>T STAD-US 9 100899955 100899955 single base substitution G A missense_variant P73S 217C>T THCA-SA 9 100884526 100884526 single base substitution C T 3_prime_UTR_variant THCA-US 9 100919655 100919655 single base substitution G A intron_variant THCA-US 9 100919704 100919704 single base substitution G A intron_variant UCEC-US 9 100888861 100888861 single base substitution G A synonymous_variant F472F 1416C>T UCEC-US 9 100889012 100889012 single base substitution G A missense_variant A422V 1265C>T UCEC-US 9 100892076 100892076 single base substitution C T missense_variant G323S 967G>A UCEC-US 9 100892140 100892140 single base substitution G A synonymous_variant S301S 903C>T UCEC-US 9 100895356 100895356 single base substitution A G synonymous_variant I204I 612T>C UCEC-US 9 100919841 100919841 single base substitution G A synonymous_variant S34S 102C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 19 COSM5747030 c.714G>A p.M238I Substitution - Missense 9:98132236-98132236 - BD49T COSM5497952 c.433G>A p.A145T Substitution - Missense 9:98134841-98134841 - TCGA-EB-A44O-01 COSM3652194 c.1326C>T p.S442S Substitution - coding silent 9:98126669-98126669 - WM3211 COSM1701396 c.1317G>A p.W439* Substitution - Nonsense 9:98126678-98126678 - TCGA-CD-A4MI-01 COSM2793316 c.544G>A p.V182M Substitution - Missense 9:98133142-98133142 - TCGA-HU-A4G8-01 COSM3902475 c.397C>T p.R133C Substitution - Missense 9:98134877-98134877 - TCGA-EE-A29D-06 COSM3652202 c.131A>G p.N44S Substitution - Missense 9:98157530-98157530 - DLBCL891 COSM1580736 c.98G>A p.R33H Substitution - Missense 9:98157563-98157563 - TCGA-24-1845-01 COSM1331419 c.83C>T p.S28F Substitution - Missense 9:98157578-98157578 - YUZINO COSM1701397 c.635G>A p.G212E Substitution - Missense 9:98133051-98133051 - LOVO COSM2793308 c.905C>T p.A302V Substitution - Missense 9:98129856-98129856 - 1N51-VS-1T51 COSM4976716 c.1304C>A p.A435E Substitution - Missense 9:98126691-98126691 - 2521259 COSM5890412 c.319-8C>A p.? Unknown 9:98134963-98134963 - TCGA-B7-5816-01 COSM3902476 c.217C>T p.P73S Substitution - Missense 9:98137673-98137673 - C008 COSM5215084 c.245G>A p.R82K Substitution - Missense 9:98137645-98137645 - TCGA-FW-A3R5-06 COSM3925758 c.1149G>A p.E383E Substitution - coding silent 9:98128192-98128192 - 1_RESISTANT COSM1718491 c.809C>T p.S270F Substitution - Missense 9:98131016-98131016 - TCGA-EE-A3AG-06 COSM3652198 c.330G>A p.W110* Substitution - Nonsense 9:98134944-98134944 - TCGA-CG-4465-01 COSM3902474 c.907G>A p.D303N Substitution - Missense 9:98129854-98129854 - TCGA-BP-5198-01 COSM486816 c.273C>G p.N91K Substitution - Missense 9:98137617-98137617 - HCT15 COSM1674652 c.161G>A p.C54Y Substitution - Missense 9:98157500-98157500 - SJOS001118_D1 COSM5023985 c.515C>T p.P172L Substitution - Missense 9:98133171-98133171 - TCGA-GN-A266-06 COSM139794 c.1325C>T p.S442F Substitution - Missense 9:98126670-98126670 - YUPAER COSM5410017 c.1134C>T p.S378S Substitution - coding silent 9:98128207-98128207 - HCT116 COSM2793321 c.175G>T p.A59S Substitution - Missense 9:98157486-98157486 - TCGA-25-1630-01 COSM77512 c.1419A>T p.E473D Substitution - Missense 9:98126576-98126576 - TCGA-D9-A6EC-06 COSM4404605 c.383T>G p.L128R Substitution - Missense 9:98134891-98134891 - GHE0605 COSM5714074 c.337C>T p.P113S Substitution - Missense 9:98134937-98134937 - TCGA-EE-A29D-06 COSM3652196 c.1056C>T p.P352P Substitution - coding silent 9:98128631-98128631 - T368 COSM4674234 c.193_194insC p.L65fs*30 Insertion - Frameshift 9:98157467-98157468 - TCGA-AP-A051-01 COSM1103106 c.102C>T p.S34S Substitution - coding silent 9:98157559-98157559 - TCGA-BR-4201-01 COSM3902473 c.1498C>T p.L500L Substitution - coding silent 9:98124854-98124854 - BD114T COSM2793317 c.480G>A p.W160* Substitution - Nonsense 9:98133206-98133206 - 1_PRE-TREATMENT COSM1718491 c.809C>T p.S270F Substitution - Missense 9:98131016-98131016 - TCGA-EE-A3J5-06 COSM3652197 c.895G>A p.E299K Substitution - Missense 9:98129866-98129866 - TCGA-G4-6588-01 COSM1464349 c.238G>A p.G80R Substitution - Missense 9:98137652-98137652 - DLBCL705 COSM1580736 c.98G>A p.R33H Substitution - Missense 9:98157563-98157563 - sysucc-882T COSM2793306 c.990C>T p.L330L Substitution - coding silent 9:98128697-98128697 - TCGA-AA-A010-01 COSM280085 c.1396A>G p.T466A Substitution - Missense 9:98126599-98126599 - TCGA-EE-A2MD-06 COSM752333 c.1417G>A p.E473K Substitution - Missense 9:98126578-98126578 - CSCC-42-T COSM4510630 c.843C>T p.D281D Substitution - coding silent 9:98130982-98130982 - HCC160 COSM3663968 c.833A>G p.Y278C Substitution - Missense 9:98130992-98130992 - T3187 COSM4674233 c.395C>T p.A132V Substitution - Missense 9:98134879-98134879 - TCGA-EE-A3JD-06 COSM4394974 c.1327T>A p.S443T Substitution - Missense 9:98126668-98126668 - TCGA-BR-8286-01 COSM2793304 c.1078C>T p.R360W Substitution - Missense 9:98128609-98128609 - ACINAR03 COSM1103102 c.1051G>A p.E351K Substitution - Missense 9:98128636-98128636 - DLBCL787 COSM1580734 c.1555C>T p.R519W Substitution - Missense 9:98124797-98124797 - 12T COSM107822 c.1534G>A p.E512K Substitution - Missense 9:98124818-98124818 - TCGA-HT-7605-01 COSM3929695 c.330G>T p.W110C Substitution - Missense 9:98134944-98134944 - OSCC-GB_01390111 COSM3902475 c.397C>T p.R133C Substitution - Missense 9:98134877-98134877 - RK169_C01 COSM3703459 c.307G>A p.E103K Substitution - Missense 9:98137583-98137583 - HT COSM1580735 c.475A>C p.I159L Substitution - Missense 9:98133211-98133211 - T3202 COSM4674232 c.858C>T p.Y286Y Substitution - coding silent 9:98130967-98130967 - HCC2998 COSM199466 c.1416C>T p.F472F Substitution - coding silent 9:98126579-98126579 - TCGA-D3-A51J-06 COSM3652200 c.190C>T p.P64S Substitution - Missense 9:98157471-98157471 - TCGA-AA-A010-01 COSM280086 c.120C>A p.F40L Substitution - Missense 9:98157541-98157541 - TCGA-JW-A5VL-01 COSM4847410 c.871-1G>C p.? Unknown 9:98129891-98129891 - pfg181T COSM4759423 c.1232C>T p.A411V Substitution - Missense 9:98126763-98126763 - PTC-7C COSM4163153 c.691C>T p.L231L Substitution - coding silent 9:98132259-98132259 - YUGURT COSM5410016 c.1140G>C p.T380T Substitution - coding silent 9:98128201-98128201 - S00936 COSM310290 c.816C>T p.G272G Substitution - coding silent 9:98131009-98131009 - YUSWI COSM1701396 c.1317G>A p.W439* Substitution - Nonsense 9:98126678-98126678 - T155 COSM199466 c.1416C>T p.F472F Substitution - coding silent 9:98126579-98126579 - TCGA-AA-3819-01 COSM294012 c.694G>C p.G232R Substitution - Missense 9:98132256-98132256 - LUAD-CHTN-MAD08-00104 COSM361320 c.795G>A p.E265E Substitution - coding silent 9:98131030-98131030 - TCGA-27-2518 COSM2157294 c.428C>T p.T143M Substitution - Missense 9:98134846-98134846 - TCGA-FR-A3YN-06 COSM2793305 c.1050C>T p.I350I Substitution - coding silent 9:98128637-98128637 - PD18017a COSM5773766 c.259G>A p.D87N Substitution - Missense 9:98137631-98137631 - 1115244 COSM2793307 c.908A>G p.D303G Substitution - Missense 9:98129853-98129853 - TCGA-AN-A0FL-01 COSM455025 c.541G>C p.D181H Substitution - Missense 9:98133145-98133145 - 2250202 COSM5030328 c.126C>T p.A42A Substitution - coding silent 9:98157535-98157535 - 49M COSM5590346 c.1179C>T p.I393I Substitution - coding silent 9:98126816-98126816 - SNU-C4 COSM4654408 c.1330C>T p.L444L Substitution - coding silent 9:98126665-98126665 - TCGA-B5-A11E-01 COSM1103104 c.903C>T p.S301S Substitution - coding silent 9:98129858-98129858 - TCGA-DI-A0WH-01 COSM1103105 c.612T>C p.I204I Substitution - coding silent 9:98133074-98133074 - HCC063T COSM5812197 c.833A>T p.Y278F Substitution - Missense 9:98130992-98130992 - TCGA-ER-A3PL-06 COSM3652201 c.136C>T p.H46Y Substitution - Missense 9:98157525-98157525 - C0089T COSM4138774 c.1228C>A p.P410T Substitution - Missense 9:98126767-98126767 - CSCC-56-T COSM4510111 c.827C>T p.P276L Substitution - Missense 9:98130998-98130998 - HCT-15 COSM1674652 c.161G>A p.C54Y Substitution - Missense 9:98157500-98157500 - LIM1215 COSM4369024 c.604C>T p.R202C Substitution - Missense 9:98133082-98133082 - YUFARCI COSM1701398 c.367G>A p.A123T Substitution - Missense 9:98134907-98134907 - TCGA-AA-3558-01 COSM292385 c.1576T>A p.*526R Nonstop extension 9:98124776-98124776 - TCGA-AD-6895-01 COSM1464347 c.1274G>T p.R425L Substitution - Missense 9:98126721-98126721 - TCGA-AX-A0J1-01 COSM1103103 c.967G>A p.G323S Substitution - Missense 9:98129794-98129794 - pfg025T COSM1643681 c.784C>A p.L262M Substitution - Missense 9:98131041-98131041 - HCT116 COSM1580736 c.98G>A p.R33H Substitution - Missense 9:98157563-98157563 - SNU-C4 COSM4654409 c.417G>A p.E139E Substitution - coding silent 9:98134857-98134857 - T2269 COSM199466 c.1416C>T p.F472F Substitution - coding silent 9:98126579-98126579 - TCGA-D9-A3Z1-06 COSM1553875 c.474G>A p.M158I Substitution - Missense 9:98133212-98133212 - TCGA-GN-A266-06 COSM3652199 c.269G>A p.W90* Substitution - Nonsense 9:98137621-98137621 - TCGA-E2-A14Q-01 COSM455023 c.1516G>A p.V506I Substitution - Missense 9:98124836-98124836 - TCGA-C4-A0F6-01 COSM422021 c.1395G>C p.L465L Substitution - coding silent 9:98126600-98126600 - Pa10X COSM85171 c.1179C>A p.I393I Substitution - coding silent 9:98126816-98126816 - TCGA-EK-A2PM-01 COSM4831611 c.349C>A p.L117M Substitution - Missense 9:98134925-98134925 - cSCCP7 COSM139794 c.1325C>T p.S442F Substitution - Missense 9:98126670-98126670 - HCC160T COSM3663968 c.833A>G p.Y278C Substitution - Missense 9:98130992-98130992 - TCGA-E2-A159-01 COSM455024 c.1096G>A p.E366K Substitution - Missense 9:98128245-98128245 - TCGA-A2-A1G1-01 COSM1489512 c.1367A>C p.H456P Substitution - Missense 9:98126628-98126628 - TCGA-BQ-5883-01 COSM3996193 c.302G>T p.C101F Substitution - Missense 9:98137588-98137588 - LAU165 COSM233910 c.766-9C>T p.? Unknown 9:98131068-98131068 - Sample_1 COSM4997713 c.682G>C p.V228L Substitution - Missense 9:98132268-98132268 - TCGA-21-1076-01 COSM752333 c.1417G>A p.E473K Substitution - Missense 9:98126578-98126578 - RK004_C01 COSM1635935 c.1207C>A p.L403M Substitution - Missense 9:98126788-98126788 - TCGA-DA-A3F3-06 COSM1701398 c.367G>A p.A123T Substitution - Missense 9:98134907-98134907 - TCGA-AA-3672-01 COSM266297 c.396G>A p.A132A Substitution - coding silent 9:98134878-98134878 - 12T COSM108461 c.384C>T p.L128L Substitution - coding silent 9:98134890-98134890 - TCGA-EB-A41A-01 COSM3652195 c.1130C>T p.P377L Substitution - Missense 9:98128211-98128211 - DLD1 COSM1674652 c.161G>A p.C54Y Substitution - Missense 9:98157500-98157500 - C0031T COSM4138775 c.492A>T p.T164T Substitution - coding silent 9:98133194-98133194 - SW48 COSM1103104 c.903C>T p.S301S Substitution - coding silent 9:98129858-98129858 - TCGA-HT-7695-01 COSM266297 c.396G>A p.A132A Substitution - coding silent 9:98134878-98134878 - TCGA-D1-A17H-01 COSM1103102 c.1051G>A p.E351K Substitution - Missense 9:98128636-98128636 - TCGA-AX-A0J0-01 COSM199466 c.1416C>T p.F472F Substitution - coding silent 9:98126579-98126579 - TCGA-AP-A0LM-01 COSM1103101 c.1265C>T p.A422V Substitution - Missense 9:98126730-98126730 - T3080 COSM4674233 c.395C>T p.A132V Substitution - Missense 9:98134879-98134879 - TCGA-27-2518-01 COSM2157294 c.428C>T p.T143M Substitution - Missense 9:98134846-98134846 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.113094 9q22.3 602159 2435309|CGAP|BC000010|A/G|coding|Thr175Thr|528|Validated; 2435309|CGAP|BC011690|A/G|coding|Thr175Thr|606|Validated; 2435192|dbSNP|BC000010|A/T|non-coding||1812|Validated; 2435192|dbSNP|BC011690|A/T|non-coding||1890|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.I176I c.528T>C 9 100895440 HNSC A G Synonymous p.I204I c.612T>C 9 100895356 UCEC A T 3-UTRSNV . c.1575+1T>A 9 100887058 COREAD A T Missense p.S443T c.1327T>A 9 100888950 CM C A Missense p.G323C c.967G>T 9 100892076 LUAD C A Missense p.R296L c.887G>T 9 100892156 STAD C A Missense p.W110C c.330G>T 9 100897226 LGG C A Nonsense p.E459* c.1375G>T 9 100888902 LUAD C A Synonymous p.I393I c.1179C>A 9 100889098 PAAD C G Missense p.A280P c.838G>C 9 100893269 LUAD C G Missense p.D181H c.541G>C 9 100895427 BRCA C G Missense p.G232R c.694G>C 9 100894538 COREAD C G Synonymous p.L465L c.1395G>C 9 100888882 BLCA C T Missense p.A123T c.367G>A 9 100897189 CM C T Missense p.D303N c.907G>A 9 100892136 STAD C T Missense p.E299K c.895G>A 9 100892148 CM C T Missense p.E366K c.1096G>A 9 100890527 BRCA C T Missense p.E473K c.1417G>A 9 100888860 CM C T Missense p.E473K c.1417G>A 9 100888860 LUSC C T Missense p.V506I c.1516G>A 9 100887118 BRCA C T Nonsense p.W110* c.330G>A 9 100897226 CM C T Synonymous p.A132A c.396G>A 9 100897160 LGG C T Synonymous p.E312E c.936G>A 9 100892107 CM C T Synonymous p.K22K c.66G>A 9 100919877 CM G A Missense p.P276S c.826C>T 9 100893281 CM G A Missense p.P73S c.217C>T 9 100899955 STAD G A Missense p.T143M c.428C>T 9 100897128 GBM G A Nonsense p.R504* c.1510C>T 9 100887124 CM G A Synonymous p.F277F c.831C>T 9 100893276 LUAD G A Synonymous p.F60F c.180C>T 9 100919763 CM G A Synonymous p.G272G c.816C>T 9 100893291 SCLC G A Synonymous p.L215L c.645C>T 9 100895323 CM G A Synonymous p.L500L c.1498C>T 9 100887136 STAD G A Synonymous p.T32T c.96C>T 9 100919847 MM G C Missense p.N91K c.273C>G 9 100899899 RCCC - G Frameshift p.A20Sfs*34 c.56dupC 9 100919887 RCCC GG AA Missense p.S315F c.944_945delinsTT 9 100892098 CM G T Missense p.L262M c.784C>A 9 100893323 STAD G T Missense p.L403M c.1207C>A 9 100889070 HC T A Missense p.E473D c.1419A>T 9 100888858 OV T A Missense p.E97V c.290A>T 9 100899882 HNSC T G Missense p.H456P c.1367A>C 9 100888910 BRCA