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 1 46195375 46195375 + Missense_Mutation SNP T T C TCGA-P6-A5OF-01A-11D-A29I-10 TCGA-P6-A5OF-10A-01D-A29L-10 g.chr1:46195375T>C c.791A>G c.(790-792)aAa>aGa p.K264R BLCA 1 46182626 46182626 + Nonsense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:46182626C>T c.1250G>A c.(1249-1251)tGg>tAg p.W417* BLCA 1 46182672 46182672 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr1:46182672C>T c.1204G>A c.(1204-1206)Gag>Aag p.E402K BLCA 1 46206708 46206708 + Missense_Mutation SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr1:46206708C>T c.589G>A c.(589-591)Gaa>Aaa p.E197K BLCA 1 46211827 46211827 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:46211827C>A c.257G>T c.(256-258)gGa>gTa p.G86V BLCA 1 46212053 46212053 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr1:46212053C>T c.31G>A c.(31-33)Gat>Aat p.D11N BRCA 1 46180091 46180091 + Frame_Shift_Del DEL G G - TCGA-A1-A0SN-01A-11D-A142-09 TCGA-A1-A0SN-10B-01D-A142-09 g.chr1:46180091delG c.1357delC c.(1357-1359)cgtfs p.R453fs BRCA 1 46195372 46195372 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:46195372G>C c.794C>G c.(793-795)tCt>tGt p.S265C BRCA 1 46206690 46206690 + Missense_Mutation SNP C C A TCGA-A7-A0CE-01A-11W-A019-09 TCGA-A7-A0CE-10A-01W-A021-09 g.chr1:46206690C>A c.607G>T c.(607-609)Gct>Tct p.A203S BRCA 1 46206927 46206927 + Missense_Mutation SNP G G A TCGA-BH-A1FN-01A-11D-A13L-09 TCGA-BH-A1FN-11A-34D-A13O-09 g.chr1:46206927G>A c.370C>T c.(370-372)Cat>Tat p.H124Y CESC 1 46211870 46211870 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:46211870C>T c.214G>A c.(214-216)Gag>Aag p.E72K COAD 1 46160173 46160173 + IGR SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:46160173C>T COAD 1 46179967 46179967 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:46179967T>C c.1481A>G c.(1480-1482)aAt>aGt p.N494S COAD 1 46180035 46180035 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:46180035C>T c.1413G>A c.(1411-1413)atG>atA p.M471I COAD 1 46180035 46180035 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:46180035C>T c.1413G>A c.(1411-1413)atG>atA p.M471I COAD 1 46195291 46195291 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:46195291G>A c.875C>T c.(874-876)gCa>gTa p.A292V COAD 1 46206873 46206873 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr1:46206873T>C c.424A>G c.(424-426)Att>Gtt p.I142V COAD 1 46212041 46212041 + Missense_Mutation SNP A A T TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr1:46212041A>T c.43T>A c.(43-45)Tca>Aca p.S15T COADREAD 1 46160173 46160173 + IGR SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:46160173C>T COADREAD 1 46179967 46179967 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:46179967T>C c.1481A>G c.(1480-1482)aAt>aGt p.N494S COADREAD 1 46180035 46180035 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:46180035C>T c.1413G>A c.(1411-1413)atG>atA p.M471I COADREAD 1 46180035 46180035 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:46180035C>T c.1413G>A c.(1411-1413)atG>atA p.M471I COADREAD 1 46180131 46180131 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:46180131A>C c.1317T>G c.(1315-1317)atT>atG p.I439M COADREAD 1 46193353 46193353 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:46193353C>T c.998G>A c.(997-999)cGa>cAa p.R333Q COADREAD 1 46195291 46195291 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:46195291G>A c.875C>T c.(874-876)gCa>gTa p.A292V COADREAD 1 46206618 46206618 + Nonsense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:46206618G>A c.679C>T c.(679-681)Cga>Tga p.R227* COADREAD 1 46206666 46206666 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:46206666C>A c.631G>T c.(631-633)Gat>Tat p.D211Y COADREAD 1 46206743 46206743 + Missense_Mutation SNP T T A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr1:46206743T>A c.554A>T c.(553-555)aAa>aTa p.K185I COADREAD 1 46206873 46206873 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr1:46206873T>C c.424A>G c.(424-426)Att>Gtt p.I142V COADREAD 1 46211843 46211843 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:46211843G>T c.241C>A c.(241-243)Cta>Ata p.L81I COADREAD 1 46212041 46212041 + Missense_Mutation SNP A A T TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr1:46212041A>T c.43T>A c.(43-45)Tca>Aca p.S15T ESCA 1 46165855 46165855 + Nonsense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr1:46165855C>T c.1538G>A c.(1537-1539)tGg>tAg p.W513* ESCA 1 46179999 46179999 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr1:46179999G>T c.1449C>A c.(1447-1449)ctC>ctA p.L483L ESCA 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs ESCA 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs ESCA 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs ESCA 1 46193360 46193360 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr1:46193360G>A c.991C>T c.(991-993)Cag>Tag p.Q331* ESCA 1 46193439 46193439 + Nonsense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr1:46193439C>T c.912G>A c.(910-912)tgG>tgA p.W304* GBM 1 46165793 46165793 + Missense_Mutation SNP G G C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr1:46165793G>C c.1600C>G c.(1600-1602)Ctt>Gtt p.L534V GBMLGG 1 46165793 46165793 + Missense_Mutation SNP G G C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr1:46165793G>C c.1600C>G c.(1600-1602)Ctt>Gtt p.L534V GBMLGG 1 46179946 46179946 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 g.chr1:46179946T>C c.1502A>G c.(1501-1503)cAt>cGt p.H501R GBMLGG 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs HNSC 1 46206694 46206694 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr1:46206694G>C c.603C>G c.(601-603)ttC>ttG p.F201L HNSC 1 46206708 46206708 + Missense_Mutation SNP C C T TCGA-CV-7425-01A-11D-2078-08 TCGA-CV-7425-10A-01D-2078-08 g.chr1:46206708C>T c.589G>A c.(589-591)Gaa>Aaa p.E197K HNSC 1 46206944 46206944 + Missense_Mutation SNP T T A TCGA-CX-A4AQ-01A-11D-A25D-08 TCGA-CX-A4AQ-10A-01D-A25E-08 g.chr1:46206944T>A c.353A>T c.(352-354)cAg>cTg p.Q118L HNSC 1 46211901 46211901 + Nonsense_Mutation SNP G G T TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr1:46211901G>T c.183C>A c.(181-183)taC>taA p.Y61* KIPAN 1 46184982 46184983 + Missense_Mutation DNP GT GT CA TCGA-BP-5180-01A-01D-1429-08 TCGA-BP-5180-11A-01D-1429-08 g.chr1:46184982_46184983GT>CA c.1078_1079AC>TG c.(1078-1080)ACt>TGt p.T360C KIPAN 1 46206791 46206792 + Frame_Shift_Ins INS - - CC TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr1:46206791_46206792insCC c.505_506insGG c.(505-507)gttfs p.V169fs KIPAN 1 46212019 46212019 + Missense_Mutation SNP A A T TCGA-B0-5711-01A-11D-1669-08 TCGA-B0-5711-11A-01D-1669-08 g.chr1:46212019A>T c.65T>A c.(64-66)cTc>cAc p.L22H KIRC 1 46184982 46184983 + Missense_Mutation DNP GT GT CA TCGA-BP-5180-01A-01D-1429-08 TCGA-BP-5180-11A-01D-1429-08 g.chr1:46184982_46184983GT>CA c.1078_1079AC>TG c.(1078-1080)ACt>TGt p.T360C KIRC 1 46212019 46212019 + Missense_Mutation SNP A A T TCGA-B0-5711-01A-11D-1669-08 TCGA-B0-5711-11A-01D-1669-08 g.chr1:46212019A>T c.65T>A c.(64-66)cTc>cAc p.L22H KIRP 1 46206791 46206792 + Frame_Shift_Ins INS - - CC TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr1:46206791_46206792insCC c.505_506insGG c.(505-507)gttfs p.V169fs LGG 1 46179946 46179946 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 g.chr1:46179946T>C c.1502A>G c.(1501-1503)cAt>cGt p.H501R LGG 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs LIHC 1 46165836 46165836 + Missense_Mutation SNP C C A TCGA-DD-A4NQ-01A-21D-A28X-10 TCGA-DD-A4NQ-10A-01D-A28X-10 g.chr1:46165836C>A c.1557G>T c.(1555-1557)atG>atT p.M519I LIHC 1 46184955 46184955 + Missense_Mutation SNP T T G TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr1:46184955T>G c.1106A>C c.(1105-1107)cAg>cCg p.Q369P LIHC 1 46195357 46195357 + Missense_Mutation SNP T T G TCGA-WQ-AB4B-01A-11D-A40P-10 TCGA-WQ-AB4B-10A-01D-A40P-10 g.chr1:46195357T>G c.809A>C c.(808-810)aAg>aCg p.K270T LIHC 1 46211836 46211836 + Missense_Mutation SNP A A G TCGA-G3-AAV7-01A-11D-A382-10 TCGA-G3-AAV7-10A-01D-A385-10 g.chr1:46211836A>G c.248T>C c.(247-249)aTt>aCt p.I83T LUAD 1 46179937 46179937 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chr1:46179937T>C c.1511A>G c.(1510-1512)gAa>gGa p.E504G LUAD 1 46179938 46179938 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chr1:46179938C>A c.1510G>T c.(1510-1512)Gaa>Taa p.E504* LUAD 1 46182672 46182672 + Missense_Mutation SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:46182672C>T c.1204G>A c.(1204-1206)Gag>Aag p.E402K LUAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs LUAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs LUAD 1 46193421 46193421 + Silent SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:46193421G>A c.930C>T c.(928-930)ctC>ctT p.L310L LUAD 1 46206597 46206597 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr1:46206597G>C c.700C>G c.(700-702)Cag>Gag p.Q234E LUAD 1 46206734 46206734 + Missense_Mutation SNP C C T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr1:46206734C>T c.563G>A c.(562-564)cGa>cAa p.R188Q LUAD 1 46206826 46206826 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr1:46206826G>A c.471C>T c.(469-471)ttC>ttT p.F157F LUAD 1 46206837 46206837 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr1:46206837G>C c.460C>G c.(460-462)Ctc>Gtc p.L154V LUAD 1 46211802 46211802 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr1:46211802G>A c.282C>T c.(280-282)ttC>ttT p.F94F LUSC 1 46180008 46180008 + Silent SNP C C A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr1:46180008C>A c.1440G>T c.(1438-1440)gtG>gtT p.V480V LUSC 1 46193388 46193388 + Missense_Mutation SNP C C A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr1:46193388C>A c.963G>T c.(961-963)caG>caT p.Q321H LUSC 1 46211819 46211819 + Nonsense_Mutation SNP G G A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr1:46211819G>A c.265C>T c.(265-267)Cag>Tag p.Q89* OV 1 46180037 46180037 + Missense_Mutation SNP T T C TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 g.chr1:46180037T>C c.1411A>G c.(1411-1413)Atg>Gtg p.M471V OV 1 46193309 46193309 + Missense_Mutation SNP T T C TCGA-36-2545-01A-01D-1526-09 TCGA-36-2545-10A-01D-1526-09 g.chr1:46193309T>C c.1042A>G c.(1042-1044)Att>Gtt p.I348V OV 1 46212055 46212055 + Missense_Mutation SNP G G C TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr1:46212055G>C c.29C>G c.(28-30)gCt>gGt p.A10G PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs PAAD 1 46206618 46206618 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:46206618G>A c.679C>T c.(679-681)Cga>Tga p.R227* PRAD 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs READ 1 46180131 46180131 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:46180131A>C c.1317T>G c.(1315-1317)atT>atG p.I439M READ 1 46193353 46193353 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:46193353C>T c.998G>A c.(997-999)cGa>cAa p.R333Q READ 1 46206618 46206618 + Nonsense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:46206618G>A c.679C>T c.(679-681)Cga>Tga p.R227* READ 1 46206666 46206666 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:46206666C>A c.631G>T c.(631-633)Gat>Tat p.D211Y READ 1 46206743 46206743 + Missense_Mutation SNP T T A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr1:46206743T>A c.554A>T c.(553-555)aAa>aTa p.K185I READ 1 46211843 46211843 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:46211843G>T c.241C>A c.(241-243)Cta>Ata p.L81I SKCM 1 46180064 46180064 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr1:46180064A>G c.1384T>C c.(1384-1386)Tct>Cct p.S462P SKCM 1 46180070 46180070 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr1:46180070G>A c.1378C>T c.(1378-1380)Cca>Tca p.P460S SKCM 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr1:46184897_46184898delAC c.1163_1164delGT c.(1162-1164)tgtfs p.C388fs SKCM 1 46195343 46195343 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr1:46195343G>A c.823C>T c.(823-825)Ctg>Ttg p.L275L

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 1 46159475 46159475 single base substitution G T downstream_gene_variant BLCA-US 1 46182672 46182672 single base substitution C T missense_variant E402K 1204G>A BLCA-US 1 46182672 46182672 single base substitution C T upstream_gene_variant BLCA-US 1 46211827 46211827 single base substitution C A missense_variant G86V 257G>T BLCA-US 1 46212053 46212053 single base substitution C T missense_variant D11N 31G>A BRCA-EU 1 46155072 46155072 single base substitution C T downstream_gene_variant BRCA-EU 1 46157688 46157688 single base substitution C T downstream_gene_variant BRCA-EU 1 46157813 46157813 single base substitution G T downstream_gene_variant BRCA-EU 1 46160676 46160676 single base substitution G T downstream_gene_variant BRCA-EU 1 46160676 46160676 single base substitution G T intron_variant BRCA-EU 1 46162450 46162450 single base substitution C T downstream_gene_variant BRCA-EU 1 46162450 46162450 single base substitution C T intron_variant BRCA-EU 1 46163079 46163079 single base substitution C G downstream_gene_variant BRCA-EU 1 46163079 46163079 single base substitution C G intron_variant BRCA-EU 1 46163090 46163090 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 46163090 46163090 deletion of <=200bp T - intron_variant BRCA-EU 1 46164991 46164991 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 46164991 46164991 single base substitution T C intron_variant BRCA-EU 1 46164991 46164991 single base substitution T C upstream_gene_variant BRCA-EU 1 46165259 46165259 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 46165259 46165259 single base substitution C A intron_variant BRCA-EU 1 46165259 46165259 single base substitution C A upstream_gene_variant BRCA-EU 1 46168563 46168563 single base substitution A T intron_variant BRCA-EU 1 46168563 46168563 single base substitution A T upstream_gene_variant BRCA-EU 1 46170067 46170067 single base substitution G A intron_variant BRCA-EU 1 46170981 46170981 single base substitution A C intron_variant BRCA-EU 1 46171049 46171049 single base substitution C G intron_variant BRCA-EU 1 46171277 46171277 single base substitution G C intron_variant BRCA-EU 1 46171714 46171714 single base substitution G C intron_variant BRCA-EU 1 46172964 46172964 single base substitution G A intron_variant BRCA-EU 1 46172992 46172992 single base substitution G A intron_variant BRCA-EU 1 46174345 46174345 single base substitution C T intron_variant BRCA-EU 1 46174885 46174885 single base substitution C G intron_variant BRCA-EU 1 46174902 46174902 single base substitution G A intron_variant BRCA-EU 1 46175892 46175892 single base substitution T C intron_variant BRCA-EU 1 46177712 46177712 single base substitution G C intron_variant BRCA-EU 1 46178029 46178029 single base substitution C T intron_variant BRCA-EU 1 46179477 46179477 single base substitution C T intron_variant BRCA-EU 1 46179806 46179806 deletion of <=200bp A - intron_variant BRCA-EU 1 46181879 46181879 deletion of <=200bp A - intron_variant BRCA-EU 1 46181879 46181879 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 46186468 46186468 deletion of <=200bp G - intron_variant BRCA-EU 1 46188371 46188371 single base substitution A C intron_variant BRCA-EU 1 46189924 46189924 single base substitution G A intron_variant BRCA-EU 1 46190716 46190716 single base substitution C T intron_variant BRCA-EU 1 46193389 46193389 single base substitution T A missense_variant Q321L 962A>T BRCA-EU 1 46194793 46194793 single base substitution G T intron_variant BRCA-EU 1 46195309 46195309 single base substitution G T missense_variant A286E 857C>A BRCA-EU 1 46196987 46196987 single base substitution C G intron_variant BRCA-EU 1 46197032 46197032 single base substitution G C intron_variant BRCA-EU 1 46198777 46198778 deletion of <=200bp AG - intron_variant BRCA-EU 1 46199086 46199086 single base substitution G C intron_variant BRCA-EU 1 46199668 46199668 deletion of <=200bp A - intron_variant BRCA-EU 1 46200843 46200843 single base substitution C A intron_variant BRCA-EU 1 46203317 46203317 single base substitution G C intron_variant BRCA-EU 1 46205382 46205382 single base substitution A C intron_variant BRCA-EU 1 46206041 46206041 single base substitution G C intron_variant BRCA-EU 1 46206909 46206909 single base substitution G A synonymous_variant L130L 388C>T BRCA-EU 1 46207461 46207461 single base substitution C T intron_variant BRCA-EU 1 46209531 46209531 single base substitution A T intron_variant BRCA-EU 1 46210150 46210150 single base substitution G T intron_variant BRCA-EU 1 46210176 46210176 single base substitution G C intron_variant BRCA-EU 1 46210988 46210988 single base substitution A C intron_variant BRCA-EU 1 46211307 46211307 single base substitution G A intron_variant BRCA-EU 1 46213045 46213045 single base substitution G A intron_variant BRCA-EU 1 46213367 46213367 single base substitution G T intron_variant BRCA-EU 1 46213449 46213449 single base substitution G C intron_variant BRCA-EU 1 46213983 46213983 single base substitution C T intron_variant BRCA-EU 1 46214160 46214170 deletion of <=200bp CTAAACCCTGT - intron_variant BRCA-EU 1 46214371 46214371 single base substitution C T intron_variant BRCA-EU 1 46214379 46214379 single base substitution C G intron_variant BRCA-EU 1 46214656 46214656 deletion of <=200bp A - intron_variant BRCA-EU 1 46215564 46215564 single base substitution A C intron_variant BRCA-EU 1 46216309 46216309 single base substitution C A 5_prime_UTR_variant BRCA-EU 1 46216413 46216413 single base substitution G A upstream_gene_variant BRCA-EU 1 46217694 46217694 single base substitution A G upstream_gene_variant BRCA-EU 1 46217768 46217768 single base substitution A G upstream_gene_variant BRCA-EU 1 46218429 46218429 single base substitution A T upstream_gene_variant BRCA-EU 1 46219304 46219304 single base substitution G C upstream_gene_variant BRCA-EU 1 46219953 46219953 single base substitution T C upstream_gene_variant BRCA-FR 1 46157813 46157813 single base substitution G T downstream_gene_variant BRCA-FR 1 46180161 46180161 single base substitution C G intron_variant BRCA-FR 1 46180161 46180161 single base substitution C G upstream_gene_variant BRCA-FR 1 46184029 46184029 single base substitution G A intron_variant BRCA-FR 1 46184029 46184029 single base substitution G A upstream_gene_variant BRCA-FR 1 46199086 46199086 single base substitution G C intron_variant BRCA-FR 1 46199436 46199436 single base substitution G A intron_variant BRCA-FR 1 46211307 46211307 single base substitution G A intron_variant BRCA-FR 1 46213045 46213045 single base substitution G A intron_variant BRCA-FR 1 46215063 46215063 single base substitution C T intron_variant BRCA-UK 1 46196987 46196987 single base substitution C G intron_variant BRCA-US 1 46156753 46156753 single base substitution A C downstream_gene_variant BRCA-US 1 46180091 46180091 deletion of <=200bp G - frameshift_variant R453 BRCA-US 1 46180091 46180091 deletion of <=200bp G - upstream_gene_variant BRCA-US 1 46195372 46195372 single base substitution G C missense_variant S265C 794C>G BRCA-US 1 46206690 46206690 single base substitution C A missense_variant A203S 607G>T BRCA-US 1 46206927 46206927 single base substitution G A missense_variant H124Y 370C>T BTCA-JP 1 46159271 46159271 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 46166967 46166967 single base substitution G T intron_variant BTCA-JP 1 46166967 46166967 single base substitution G T upstream_gene_variant CESC-US 1 46165596 46165596 single base substitution G T 3_prime_UTR_variant CESC-US 1 46165596 46165596 single base substitution G T exon_variant CESC-US 1 46165596 46165596 single base substitution G T intron_variant CESC-US 1 46165596 46165596 single base substitution G T upstream_gene_variant CESC-US 1 46211870 46211870 single base substitution C T missense_variant E72K 214G>A CLLE-ES 1 46173387 46173387 single base substitution A G intron_variant CLLE-ES 1 46186889 46186889 insertion of <=200bp - T intron_variant CLLE-ES 1 46215174 46215174 single base substitution T G intron_variant COAD-US 1 46160173 46160173 single base substitution C T downstream_gene_variant COAD-US 1 46160173 46160173 single base substitution C T missense_variant E556K 1666G>A COAD-US 1 46195375 46195375 single base substitution T C missense_variant K264R 791A>G COAD-US 1 46206873 46206873 single base substitution T C missense_variant I142V 424A>G COCA-CN 1 46156923 46156923 single base substitution A C downstream_gene_variant COCA-CN 1 46159561 46159561 single base substitution G T downstream_gene_variant COCA-CN 1 46166383 46166383 single base substitution C T intron_variant COCA-CN 1 46166383 46166383 single base substitution C T upstream_gene_variant COCA-CN 1 46166881 46166881 single base substitution C A intron_variant COCA-CN 1 46166881 46166881 single base substitution C A upstream_gene_variant COCA-CN 1 46179927 46179927 single base substitution G T synonymous_variant S507S 1521C>A COCA-CN 1 46179927 46179927 single base substitution G T upstream_gene_variant COCA-CN 1 46180221 46180221 single base substitution T C intron_variant COCA-CN 1 46180221 46180221 single base substitution T C upstream_gene_variant COCA-CN 1 46195214 46195214 single base substitution C T intron_variant COCA-CN 1 46195268 46195268 single base substitution T G intron_variant COCA-CN 1 46206960 46206960 single base substitution C T missense_variant A113T 337G>A COCA-CN 1 46212173 46212173 single base substitution T G intron_variant EOPC-DE 1 46164252 46164252 single base substitution A T downstream_gene_variant EOPC-DE 1 46164252 46164252 single base substitution A T intron_variant EOPC-DE 1 46164252 46164252 single base substitution A T upstream_gene_variant EOPC-DE 1 46178139 46178139 single base substitution A T intron_variant EOPC-DE 1 46200671 46200671 single base substitution A C intron_variant EOPC-DE 1 46205540 46205540 single base substitution T C intron_variant EOPC-DE 1 46208756 46208756 single base substitution C T intron_variant EOPC-DE 1 46211235 46211235 single base substitution T C intron_variant ESAD-UK 1 46155614 46155614 single base substitution C T downstream_gene_variant ESAD-UK 1 46155951 46155951 single base substitution A C downstream_gene_variant ESAD-UK 1 46159750 46159750 single base substitution T C downstream_gene_variant ESAD-UK 1 46160435 46160435 single base substitution T C downstream_gene_variant ESAD-UK 1 46160435 46160435 single base substitution T C intron_variant ESAD-UK 1 46161692 46161692 single base substitution C G downstream_gene_variant ESAD-UK 1 46161692 46161692 single base substitution C G intron_variant ESAD-UK 1 46161899 46161912 deletion of <=200bp TTAAGTACATTTGA - downstream_gene_variant ESAD-UK 1 46161899 46161912 deletion of <=200bp TTAAGTACATTTGA - intron_variant ESAD-UK 1 46164614 46164614 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 46164614 46164614 single base substitution G A intron_variant ESAD-UK 1 46164614 46164614 single base substitution G A upstream_gene_variant ESAD-UK 1 46166064 46166064 single base substitution A G intron_variant ESAD-UK 1 46166064 46166064 single base substitution A G upstream_gene_variant ESAD-UK 1 46166138 46166138 single base substitution T C intron_variant ESAD-UK 1 46166138 46166138 single base substitution T C upstream_gene_variant ESAD-UK 1 46166575 46166575 single base substitution G T intron_variant ESAD-UK 1 46166575 46166575 single base substitution G T upstream_gene_variant ESAD-UK 1 46172213 46172213 single base substitution C T intron_variant ESAD-UK 1 46173669 46173669 single base substitution G A intron_variant ESAD-UK 1 46173805 46173805 single base substitution C A intron_variant ESAD-UK 1 46177198 46177198 single base substitution G A intron_variant ESAD-UK 1 46177861 46177861 single base substitution G A intron_variant ESAD-UK 1 46179628 46179628 single base substitution G C intron_variant ESAD-UK 1 46184714 46184714 single base substitution G C intron_variant ESAD-UK 1 46184714 46184714 single base substitution G C upstream_gene_variant ESAD-UK 1 46185316 46185316 single base substitution T C intron_variant ESAD-UK 1 46185833 46185833 single base substitution A G intron_variant ESAD-UK 1 46189669 46189669 single base substitution C T intron_variant ESAD-UK 1 46195324 46195324 single base substitution C T missense_variant R281Q 842G>A ESAD-UK 1 46196864 46196864 single base substitution G T intron_variant ESAD-UK 1 46196986 46196986 single base substitution A C intron_variant ESAD-UK 1 46197587 46197587 single base substitution T G intron_variant ESAD-UK 1 46199105 46199108 deletion of <=200bp ATAA - intron_variant ESAD-UK 1 46199224 46199224 single base substitution A T intron_variant ESAD-UK 1 46201454 46201454 single base substitution A G intron_variant ESAD-UK 1 46209562 46209562 single base substitution G A intron_variant ESAD-UK 1 46215557 46215557 insertion of <=200bp - A intron_variant ESAD-UK 1 46215755 46215755 single base substitution A G intron_variant ESAD-UK 1 46217365 46217365 single base substitution C T upstream_gene_variant ESAD-UK 1 46218630 46218630 single base substitution G T upstream_gene_variant GACA-CN 1 46165796 46165796 single base substitution C A exon_variant GACA-CN 1 46165796 46165796 single base substitution C A missense_variant G533C 1597G>T GACA-CN 1 46165796 46165796 single base substitution C A upstream_gene_variant GBM-US 1 46159245 46159245 single base substitution T C downstream_gene_variant KIRC-US 1 46156752 46156752 single base substitution C T downstream_gene_variant KIRC-US 1 46159076 46159076 single base substitution C A downstream_gene_variant KIRC-US 1 46184982 46184982 single base substitution G C missense_variant T360S 1079C>G KIRC-US 1 46184983 46184983 single base substitution T A missense_variant T360S 1078A>T KIRC-US 1 46211923 46211923 insertion of <=200bp - C frameshift_variant V54V? KIRC-US 1 46212019 46212019 single base substitution A T missense_variant L22H 65T>A KIRP-US 1 46159260 46159260 single base substitution A G downstream_gene_variant KIRP-US 1 46184897 46184898 deletion of <=200bp AC - frameshift_variant C388 KIRP-US 1 46184897 46184898 deletion of <=200bp AC - upstream_gene_variant KIRP-US 1 46206860 46206860 single base substitution G A missense_variant S146F 437C>T LAML-KR 1 46160246 46160246 single base substitution G C downstream_gene_variant LAML-KR 1 46160246 46160246 single base substitution G C intron_variant LAML-KR 1 46175372 46175372 single base substitution A G intron_variant LAML-KR 1 46175402 46175402 single base substitution G A intron_variant LAML-KR 1 46188109 46188109 single base substitution G A intron_variant LAML-KR 1 46190127 46190127 single base substitution A G intron_variant LAML-KR 1 46190342 46190342 single base substitution A C intron_variant LAML-KR 1 46190903 46190903 single base substitution T C intron_variant LAML-KR 1 46191142 46191142 single base substitution T G intron_variant LAML-KR 1 46205518 46205518 single base substitution G T intron_variant LAML-KR 1 46205991 46205991 single base substitution T G intron_variant LICA-CN 1 46206685 46206685 single base substitution T A synonymous_variant A204A 612A>T LICA-FR 1 46176166 46176166 single base substitution A G intron_variant LICA-FR 1 46181126 46181126 single base substitution A C intron_variant LICA-FR 1 46181126 46181126 single base substitution A C upstream_gene_variant LICA-FR 1 46191776 46191776 single base substitution A C intron_variant LICA-FR 1 46196564 46196564 single base substitution A T intron_variant LICA-FR 1 46201453 46201453 insertion of <=200bp - CACCACACCAGGCCACCACACCAGGC intron_variant LICA-FR 1 46202715 46202715 insertion of <=200bp - A intron_variant LICA-FR 1 46212780 46212791 deletion of <=200bp GCGCGCACACGA - intron_variant LICA-FR 1 46212798 46212798 single base substitution G T intron_variant LICA-FR 1 46212801 46212801 single base substitution C T intron_variant LIHC-US 1 46165836 46165836 single base substitution C A exon_variant LIHC-US 1 46165836 46165836 single base substitution C A missense_variant M519I 1557G>T LIHC-US 1 46165836 46165836 single base substitution C A upstream_gene_variant LIHC-US 1 46184955 46184955 single base substitution T G missense_variant Q369P 1106A>C LINC-JP 1 46158294 46158294 single base substitution A T downstream_gene_variant LINC-JP 1 46159188 46159188 single base substitution A C downstream_gene_variant LINC-JP 1 46168448 46168448 single base substitution T A intron_variant LINC-JP 1 46168448 46168448 single base substitution T A upstream_gene_variant LINC-JP 1 46179735 46179735 single base substitution T C intron_variant LINC-JP 1 46187533 46187533 single base substitution A C intron_variant LINC-JP 1 46200355 46200355 single base substitution G A intron_variant LINC-JP 1 46206978 46206978 single base substitution C A missense_variant V107F 319G>T LINC-JP 1 46210524 46210524 single base substitution A T intron_variant LINC-JP 1 46211021 46211021 single base substitution T C intron_variant LIRI-JP 1 46155493 46155493 single base substitution G A downstream_gene_variant LIRI-JP 1 46158839 46158839 single base substitution T C downstream_gene_variant LIRI-JP 1 46159390 46159390 single base substitution T C downstream_gene_variant LIRI-JP 1 46159512 46159512 single base substitution A G downstream_gene_variant LIRI-JP 1 46160689 46160689 single base substitution A T downstream_gene_variant LIRI-JP 1 46160689 46160689 single base substitution A T intron_variant LIRI-JP 1 46161487 46161487 single base substitution A C downstream_gene_variant LIRI-JP 1 46161487 46161487 single base substitution A C intron_variant LIRI-JP 1 46161655 46161655 single base substitution A T downstream_gene_variant LIRI-JP 1 46161655 46161655 single base substitution A T intron_variant LIRI-JP 1 46162666 46162666 single base substitution A G downstream_gene_variant LIRI-JP 1 46162666 46162666 single base substitution A G intron_variant LIRI-JP 1 46164046 46164046 single base substitution C T downstream_gene_variant LIRI-JP 1 46164046 46164046 single base substitution C T intron_variant LIRI-JP 1 46164046 46164046 single base substitution C T upstream_gene_variant LIRI-JP 1 46164161 46164161 single base substitution G T downstream_gene_variant LIRI-JP 1 46164161 46164161 single base substitution G T intron_variant LIRI-JP 1 46164161 46164161 single base substitution G T upstream_gene_variant LIRI-JP 1 46170469 46170469 single base substitution G C intron_variant LIRI-JP 1 46171068 46171068 single base substitution G A intron_variant LIRI-JP 1 46178403 46178403 single base substitution C G intron_variant LIRI-JP 1 46181868 46181868 single base substitution G C intron_variant LIRI-JP 1 46181868 46181868 single base substitution G C upstream_gene_variant LIRI-JP 1 46182999 46182999 single base substitution T C intron_variant LIRI-JP 1 46182999 46182999 single base substitution T C upstream_gene_variant LIRI-JP 1 46188591 46188591 single base substitution G C intron_variant LIRI-JP 1 46188845 46188845 single base substitution T C intron_variant LIRI-JP 1 46192182 46192182 single base substitution T C intron_variant LIRI-JP 1 46193196 46193196 single base substitution G A intron_variant LIRI-JP 1 46194077 46194077 single base substitution C A intron_variant LIRI-JP 1 46195170 46195170 single base substitution T C intron_variant LIRI-JP 1 46204447 46204447 single base substitution G C intron_variant LIRI-JP 1 46205930 46205930 single base substitution A G intron_variant LIRI-JP 1 46212095 46212095 deletion of <=200bp A - 5_prime_UTR_variant LIRI-JP 1 46212268 46212268 single base substitution T C intron_variant LIRI-JP 1 46212755 46212755 single base substitution C T intron_variant LIRI-JP 1 46213093 46213093 single base substitution T C intron_variant LIRI-JP 1 46213646 46213646 single base substitution T G intron_variant LIRI-JP 1 46215889 46215889 single base substitution T C intron_variant LIRI-JP 1 46218102 46218102 single base substitution A T upstream_gene_variant LIRI-JP 1 46219890 46219890 single base substitution A G upstream_gene_variant LUSC-KR 1 46176406 46176406 single base substitution A G intron_variant LUSC-KR 1 46178537 46178537 single base substitution G A intron_variant LUSC-KR 1 46184250 46184250 single base substitution C A intron_variant LUSC-KR 1 46184250 46184250 single base substitution C A upstream_gene_variant LUSC-KR 1 46187310 46187310 single base substitution G A intron_variant LUSC-KR 1 46188677 46188677 single base substitution T C intron_variant LUSC-KR 1 46190041 46190041 single base substitution A T intron_variant LUSC-KR 1 46190224 46190224 single base substitution G A intron_variant LUSC-KR 1 46190347 46190347 single base substitution T C intron_variant LUSC-KR 1 46190598 46190598 single base substitution C T intron_variant LUSC-KR 1 46190680 46190680 single base substitution T A intron_variant LUSC-KR 1 46190903 46190903 single base substitution T C intron_variant LUSC-KR 1 46190917 46190917 single base substitution G A intron_variant LUSC-KR 1 46190972 46190972 single base substitution C T intron_variant LUSC-KR 1 46191076 46191076 single base substitution G T intron_variant LUSC-KR 1 46191474 46191474 single base substitution C T intron_variant LUSC-KR 1 46191486 46191486 single base substitution T C intron_variant LUSC-KR 1 46191733 46191733 single base substitution C T intron_variant LUSC-KR 1 46192413 46192413 single base substitution G T intron_variant LUSC-KR 1 46203151 46203151 single base substitution G T intron_variant LUSC-KR 1 46207820 46207820 single base substitution A C intron_variant LUSC-KR 1 46219986 46219986 single base substitution C A upstream_gene_variant LUSC-KR 1 46220070 46220070 single base substitution C A upstream_gene_variant LUSC-US 1 46180008 46180008 single base substitution C A synonymous_variant V480V 1440G>T LUSC-US 1 46180008 46180008 single base substitution C A upstream_gene_variant LUSC-US 1 46193388 46193388 single base substitution C A missense_variant Q321H 963G>T LUSC-US 1 46211819 46211819 single base substitution G A stop_gained Q89* 265C>T MALY-DE 1 46157545 46157545 insertion of <=200bp - AT downstream_gene_variant MALY-DE 1 46178271 46178271 deletion of <=200bp T - intron_variant MALY-DE 1 46181879 46181879 insertion of <=200bp - A intron_variant MALY-DE 1 46181879 46181879 insertion of <=200bp - A upstream_gene_variant MALY-DE 1 46184909 46184909 single base substitution T C synonymous_variant G384G 1152A>G MALY-DE 1 46184909 46184909 single base substitution T C upstream_gene_variant MALY-DE 1 46186645 46186645 single base substitution A G intron_variant MALY-DE 1 46187143 46187143 single base substitution T A intron_variant MALY-DE 1 46194640 46194641 deletion of <=200bp AT - intron_variant MALY-DE 1 46195226 46195226 single base substitution A T intron_variant MALY-DE 1 46197383 46197383 single base substitution G C intron_variant MALY-DE 1 46197441 46197441 single base substitution T C intron_variant MALY-DE 1 46199668 46199668 insertion of <=200bp - A intron_variant MALY-DE 1 46219462 46219462 single base substitution G A upstream_gene_variant MELA-AU 1 46156970 46156970 single base substitution C T downstream_gene_variant MELA-AU 1 46157152 46157152 single base substitution C T downstream_gene_variant MELA-AU 1 46157345 46157346 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 46158278 46158278 single base substitution A T downstream_gene_variant MELA-AU 1 46159688 46159688 single base substitution C A downstream_gene_variant MELA-AU 1 46160106 46160106 single base substitution C T downstream_gene_variant MELA-AU 1 46160106 46160106 single base substitution C T missense_variant G578E 1733G>A MELA-AU 1 46160908 46160908 single base substitution C T downstream_gene_variant MELA-AU 1 46160908 46160908 single base substitution C T intron_variant MELA-AU 1 46160960 46160960 single base substitution C T downstream_gene_variant MELA-AU 1 46160960 46160960 single base substitution C T intron_variant MELA-AU 1 46161272 46161272 single base substitution G A downstream_gene_variant MELA-AU 1 46161272 46161272 single base substitution G A intron_variant MELA-AU 1 46161629 46161629 single base substitution C T downstream_gene_variant MELA-AU 1 46161629 46161629 single base substitution C T intron_variant MELA-AU 1 46162174 46162174 single base substitution C T downstream_gene_variant MELA-AU 1 46162174 46162174 single base substitution C T intron_variant MELA-AU 1 46162396 46162396 single base substitution G A downstream_gene_variant MELA-AU 1 46162396 46162396 single base substitution G A intron_variant MELA-AU 1 46163874 46163874 single base substitution G T downstream_gene_variant MELA-AU 1 46163874 46163874 single base substitution G T intron_variant MELA-AU 1 46163874 46163874 single base substitution G T upstream_gene_variant MELA-AU 1 46164374 46164374 single base substitution G A downstream_gene_variant MELA-AU 1 46164374 46164374 single base substitution G A intron_variant MELA-AU 1 46164374 46164374 single base substitution G A upstream_gene_variant MELA-AU 1 46164667 46164667 single base substitution G A 3_prime_UTR_variant MELA-AU 1 46164667 46164667 single base substitution G A intron_variant MELA-AU 1 46164667 46164667 single base substitution G A upstream_gene_variant MELA-AU 1 46165629 46165629 single base substitution C T 3_prime_UTR_variant MELA-AU 1 46165629 46165629 single base substitution C T exon_variant MELA-AU 1 46165629 46165629 single base substitution C T intron_variant MELA-AU 1 46165629 46165629 single base substitution C T upstream_gene_variant MELA-AU 1 46166428 46166428 single base substitution G A intron_variant MELA-AU 1 46166428 46166428 single base substitution G A upstream_gene_variant MELA-AU 1 46166557 46166557 single base substitution A G intron_variant MELA-AU 1 46166557 46166557 single base substitution A G upstream_gene_variant MELA-AU 1 46166866 46166866 single base substitution T C intron_variant MELA-AU 1 46166866 46166866 single base substitution T C upstream_gene_variant MELA-AU 1 46167216 46167217 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 46167216 46167217 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 46167969 46167969 single base substitution C T intron_variant MELA-AU 1 46167969 46167969 single base substitution C T upstream_gene_variant MELA-AU 1 46168150 46168150 single base substitution G A intron_variant MELA-AU 1 46168150 46168150 single base substitution G A upstream_gene_variant MELA-AU 1 46168566 46168566 single base substitution G A intron_variant MELA-AU 1 46168566 46168566 single base substitution G A upstream_gene_variant MELA-AU 1 46168690 46168690 single base substitution G A intron_variant MELA-AU 1 46168690 46168690 single base substitution G A upstream_gene_variant MELA-AU 1 46168709 46168709 single base substitution G A intron_variant MELA-AU 1 46168709 46168709 single base substitution G A upstream_gene_variant MELA-AU 1 46169031 46169031 single base substitution G A intron_variant MELA-AU 1 46169084 46169084 single base substitution C T intron_variant MELA-AU 1 46169237 46169237 single base substitution A G intron_variant MELA-AU 1 46169702 46169702 single base substitution C T intron_variant MELA-AU 1 46169751 46169751 single base substitution G A intron_variant MELA-AU 1 46169896 46169896 single base substitution G A intron_variant MELA-AU 1 46170725 46170725 single base substitution C G intron_variant MELA-AU 1 46170774 46170774 single base substitution T A intron_variant MELA-AU 1 46170967 46170967 single base substitution T A intron_variant MELA-AU 1 46171117 46171117 single base substitution A G intron_variant MELA-AU 1 46171453 46171453 single base substitution G A intron_variant MELA-AU 1 46171673 46171673 single base substitution G A intron_variant MELA-AU 1 46172482 46172482 single base substitution A C intron_variant MELA-AU 1 46172616 46172616 single base substitution G A intron_variant MELA-AU 1 46172792 46172792 single base substitution G A intron_variant MELA-AU 1 46173108 46173108 single base substitution A T intron_variant MELA-AU 1 46173712 46173712 single base substitution C T intron_variant MELA-AU 1 46173800 46173800 single base substitution G A intron_variant MELA-AU 1 46174161 46174161 single base substitution G A intron_variant MELA-AU 1 46174607 46174607 single base substitution G T intron_variant MELA-AU 1 46174888 46174888 single base substitution G A intron_variant MELA-AU 1 46176767 46176767 single base substitution G A intron_variant MELA-AU 1 46176932 46176932 single base substitution G A intron_variant MELA-AU 1 46176940 46176940 single base substitution G A intron_variant MELA-AU 1 46177413 46177413 single base substitution A G intron_variant MELA-AU 1 46177580 46177580 single base substitution G A intron_variant MELA-AU 1 46178007 46178007 single base substitution G A intron_variant MELA-AU 1 46178200 46178200 single base substitution A G intron_variant MELA-AU 1 46178213 46178213 single base substitution G A intron_variant MELA-AU 1 46178445 46178445 single base substitution G A intron_variant MELA-AU 1 46178506 46178507 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46178809 46178809 single base substitution G A intron_variant MELA-AU 1 46178837 46178837 single base substitution G A intron_variant MELA-AU 1 46179155 46179155 single base substitution C T intron_variant MELA-AU 1 46179295 46179296 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46179696 46179696 single base substitution A C intron_variant MELA-AU 1 46179804 46179804 single base substitution G A intron_variant MELA-AU 1 46179927 46179927 single base substitution G A synonymous_variant S507S 1521C>T MELA-AU 1 46179927 46179927 single base substitution G A upstream_gene_variant MELA-AU 1 46179929 46179929 single base substitution A G missense_variant S507P 1519T>C MELA-AU 1 46179929 46179929 single base substitution A G upstream_gene_variant MELA-AU 1 46180093 46180093 single base substitution A T missense_variant L452H 1355T>A MELA-AU 1 46180093 46180093 single base substitution A T upstream_gene_variant MELA-AU 1 46180172 46180172 single base substitution G A intron_variant MELA-AU 1 46180172 46180172 single base substitution G A upstream_gene_variant MELA-AU 1 46180192 46180192 single base substitution G A intron_variant MELA-AU 1 46180192 46180192 single base substitution G A upstream_gene_variant MELA-AU 1 46180314 46180315 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 46180314 46180315 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 1 46180608 46180608 single base substitution A T intron_variant MELA-AU 1 46180608 46180608 single base substitution A T upstream_gene_variant MELA-AU 1 46180994 46180995 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46180994 46180995 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 46181131 46181131 single base substitution G A intron_variant MELA-AU 1 46181131 46181131 single base substitution G A upstream_gene_variant MELA-AU 1 46181320 46181320 single base substitution A G intron_variant MELA-AU 1 46181320 46181320 single base substitution A G upstream_gene_variant MELA-AU 1 46181531 46181531 single base substitution A T intron_variant MELA-AU 1 46181531 46181531 single base substitution A T upstream_gene_variant MELA-AU 1 46181541 46181541 single base substitution G A intron_variant MELA-AU 1 46181541 46181541 single base substitution G A upstream_gene_variant MELA-AU 1 46183015 46183015 single base substitution G A intron_variant MELA-AU 1 46183015 46183015 single base substitution G A upstream_gene_variant MELA-AU 1 46183743 46183743 single base substitution T C intron_variant MELA-AU 1 46183743 46183743 single base substitution T C upstream_gene_variant MELA-AU 1 46184034 46184034 single base substitution T C intron_variant MELA-AU 1 46184034 46184034 single base substitution T C upstream_gene_variant MELA-AU 1 46184061 46184061 single base substitution C T intron_variant MELA-AU 1 46184061 46184061 single base substitution C T upstream_gene_variant MELA-AU 1 46184501 46184501 single base substitution G A intron_variant MELA-AU 1 46184501 46184501 single base substitution G A upstream_gene_variant MELA-AU 1 46184924 46184924 single base substitution G A synonymous_variant P379P 1137C>T MELA-AU 1 46184924 46184924 single base substitution G A upstream_gene_variant MELA-AU 1 46185909 46185910 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 1 46186005 46186005 single base substitution G A intron_variant MELA-AU 1 46186598 46186598 single base substitution G A intron_variant MELA-AU 1 46186644 46186644 single base substitution G A intron_variant MELA-AU 1 46186967 46186967 single base substitution C T intron_variant MELA-AU 1 46187006 46187006 single base substitution C T intron_variant MELA-AU 1 46188643 46188643 single base substitution G A intron_variant MELA-AU 1 46188707 46188707 single base substitution G A intron_variant MELA-AU 1 46189375 46189375 single base substitution G A intron_variant MELA-AU 1 46189640 46189640 insertion of <=200bp - CTCCCC intron_variant MELA-AU 1 46191049 46191049 single base substitution G A intron_variant MELA-AU 1 46192007 46192007 single base substitution G A intron_variant MELA-AU 1 46192459 46192459 single base substitution G A intron_variant MELA-AU 1 46192832 46192832 single base substitution C T intron_variant MELA-AU 1 46192918 46192918 single base substitution C T intron_variant MELA-AU 1 46193418 46193418 single base substitution G A synonymous_variant S311S 933C>T MELA-AU 1 46193481 46193481 single base substitution G A intron_variant MELA-AU 1 46193549 46193549 single base substitution G A intron_variant MELA-AU 1 46193915 46193915 single base substitution G A intron_variant MELA-AU 1 46193931 46193931 single base substitution C T intron_variant MELA-AU 1 46194069 46194070 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46195087 46195087 single base substitution G A intron_variant MELA-AU 1 46195191 46195191 single base substitution T C intron_variant MELA-AU 1 46195362 46195362 single base substitution C T synonymous_variant E268E 804G>A MELA-AU 1 46195421 46195421 single base substitution G A missense_variant R249C 745C>T MELA-AU 1 46195434 46195434 single base substitution G A synonymous_variant S244S 732C>T MELA-AU 1 46195812 46195812 single base substitution G A intron_variant MELA-AU 1 46195999 46195999 single base substitution G A intron_variant MELA-AU 1 46196832 46196832 single base substitution G A intron_variant MELA-AU 1 46196936 46196936 single base substitution A C intron_variant MELA-AU 1 46197421 46197421 single base substitution A G intron_variant MELA-AU 1 46197428 46197428 single base substitution G A intron_variant MELA-AU 1 46197597 46197597 single base substitution A G intron_variant MELA-AU 1 46197613 46197613 single base substitution G A intron_variant MELA-AU 1 46197850 46197850 single base substitution G A intron_variant MELA-AU 1 46198251 46198251 single base substitution A G intron_variant MELA-AU 1 46198639 46198639 single base substitution G A intron_variant MELA-AU 1 46199189 46199189 single base substitution G A intron_variant MELA-AU 1 46199280 46199280 single base substitution G A intron_variant MELA-AU 1 46199849 46199849 single base substitution C T intron_variant MELA-AU 1 46201208 46201208 single base substitution G A intron_variant MELA-AU 1 46202158 46202158 single base substitution C T intron_variant MELA-AU 1 46202548 46202548 deletion of <=200bp A - intron_variant MELA-AU 1 46203804 46203805 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 46203805 46203805 single base substitution G A intron_variant MELA-AU 1 46203859 46203859 single base substitution G A intron_variant MELA-AU 1 46204044 46204044 single base substitution A G intron_variant MELA-AU 1 46204628 46204628 single base substitution C T intron_variant MELA-AU 1 46205338 46205338 single base substitution G A intron_variant MELA-AU 1 46205547 46205547 single base substitution G A intron_variant MELA-AU 1 46206114 46206114 single base substitution G C intron_variant MELA-AU 1 46206146 46206146 single base substitution G A intron_variant MELA-AU 1 46206552 46206552 single base substitution G A intron_variant MELA-AU 1 46206804 46206804 single base substitution G A missense_variant H165Y 493C>T MELA-AU 1 46207028 46207028 single base substitution G A intron_variant MELA-AU 1 46207170 46207170 single base substitution G A intron_variant MELA-AU 1 46207751 46207751 single base substitution G A intron_variant MELA-AU 1 46208363 46208363 single base substitution G A intron_variant MELA-AU 1 46209200 46209200 single base substitution A G intron_variant MELA-AU 1 46209203 46209203 single base substitution T A intron_variant MELA-AU 1 46209458 46209458 single base substitution G A intron_variant MELA-AU 1 46210295 46210295 single base substitution G A intron_variant MELA-AU 1 46212587 46212587 single base substitution T A intron_variant MELA-AU 1 46212920 46212920 single base substitution G A intron_variant MELA-AU 1 46213178 46213179 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 46213328 46213328 single base substitution C T intron_variant MELA-AU 1 46213737 46213737 single base substitution G A intron_variant MELA-AU 1 46214791 46214791 single base substitution G A intron_variant MELA-AU 1 46215077 46215077 single base substitution G A intron_variant MELA-AU 1 46218062 46218062 single base substitution C T upstream_gene_variant MELA-AU 1 46218394 46218394 single base substitution G A upstream_gene_variant MELA-AU 1 46218679 46218679 single base substitution A G upstream_gene_variant MELA-AU 1 46218735 46218735 single base substitution T C upstream_gene_variant MELA-AU 1 46218867 46218867 single base substitution A C upstream_gene_variant MELA-AU 1 46219419 46219419 single base substitution G A upstream_gene_variant MELA-AU 1 46219491 46219491 single base substitution C T upstream_gene_variant MELA-AU 1 46219778 46219778 single base substitution A G upstream_gene_variant MELA-AU 1 46219860 46219860 single base substitution C T upstream_gene_variant MELA-AU 1 46219861 46219861 single base substitution G A upstream_gene_variant MELA-AU 1 46219976 46219976 single base substitution C T upstream_gene_variant MELA-AU 1 46220158 46220158 single base substitution C T upstream_gene_variant MELA-AU 1 46220565 46220565 single base substitution G A upstream_gene_variant MELA-AU 1 46220586 46220586 single base substitution C T upstream_gene_variant MELA-AU 1 46220925 46220925 single base substitution C T upstream_gene_variant MELA-AU 1 46221105 46221106 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 1 46221121 46221121 single base substitution G A upstream_gene_variant MELA-AU 1 46221193 46221193 single base substitution C T upstream_gene_variant MELA-AU 1 46221302 46221302 single base substitution A G upstream_gene_variant ORCA-IN 1 46164548 46164548 single base substitution G T 3_prime_UTR_variant ORCA-IN 1 46164548 46164548 single base substitution G T intron_variant ORCA-IN 1 46164548 46164548 single base substitution G T upstream_gene_variant ORCA-IN 1 46171481 46171481 single base substitution A C intron_variant ORCA-IN 1 46189370 46189370 single base substitution C G intron_variant ORCA-IN 1 46216417 46216417 single base substitution C G upstream_gene_variant OV-AU 1 46157950 46157950 single base substitution C T downstream_gene_variant OV-AU 1 46161100 46161100 single base substitution T C downstream_gene_variant OV-AU 1 46161100 46161100 single base substitution T C intron_variant OV-AU 1 46161305 46161305 single base substitution A G downstream_gene_variant OV-AU 1 46161305 46161305 single base substitution A G intron_variant OV-AU 1 46163983 46163983 single base substitution C A downstream_gene_variant OV-AU 1 46163983 46163983 single base substitution C A intron_variant OV-AU 1 46163983 46163983 single base substitution C A upstream_gene_variant OV-AU 1 46182889 46182889 single base substitution T A intron_variant OV-AU 1 46182889 46182889 single base substitution T A upstream_gene_variant OV-AU 1 46185032 46185032 single base substitution C A intron_variant OV-AU 1 46189631 46189631 single base substitution C T intron_variant OV-AU 1 46191884 46191884 single base substitution A T intron_variant OV-AU 1 46192845 46192845 single base substitution T C intron_variant OV-AU 1 46193721 46193721 single base substitution G T intron_variant OV-AU 1 46202024 46202024 single base substitution C A intron_variant OV-AU 1 46202629 46202629 single base substitution G T intron_variant OV-AU 1 46207928 46207928 single base substitution A C intron_variant OV-AU 1 46210524 46210524 single base substitution A T intron_variant OV-AU 1 46213704 46213704 single base substitution C T intron_variant OV-AU 1 46219162 46219162 single base substitution C A upstream_gene_variant OV-AU 1 46219469 46219469 single base substitution C T upstream_gene_variant OV-AU 1 46220165 46220165 single base substitution A G upstream_gene_variant OV-AU 1 46220697 46220697 single base substitution C T upstream_gene_variant OV-AU 1 46221303 46221303 single base substitution G A upstream_gene_variant PACA-AU 1 46154999 46154999 single base substitution G A downstream_gene_variant PACA-AU 1 46155346 46155346 single base substitution T G downstream_gene_variant PACA-AU 1 46163872 46163872 single base substitution G A downstream_gene_variant PACA-AU 1 46163872 46163872 single base substitution G A intron_variant PACA-AU 1 46163872 46163872 single base substitution G A upstream_gene_variant PACA-AU 1 46168256 46168256 deletion of <=200bp A - intron_variant PACA-AU 1 46168256 46168256 deletion of <=200bp A - upstream_gene_variant PACA-AU 1 46169634 46169634 single base substitution G T intron_variant PACA-AU 1 46172364 46172364 single base substitution C T intron_variant PACA-AU 1 46174647 46174647 single base substitution A G intron_variant PACA-AU 1 46176830 46176830 single base substitution C T intron_variant PACA-AU 1 46176945 46176945 single base substitution G A intron_variant PACA-AU 1 46189640 46189640 insertion of <=200bp - CTCCCC intron_variant PACA-AU 1 46190528 46190528 single base substitution C T intron_variant PACA-AU 1 46192608 46192608 single base substitution G A intron_variant PACA-AU 1 46195898 46195898 single base substitution C T intron_variant PACA-AU 1 46203315 46203315 single base substitution T A intron_variant PACA-AU 1 46203451 46203451 single base substitution A C intron_variant PACA-AU 1 46205570 46205570 single base substitution A G intron_variant PACA-AU 1 46207648 46207648 single base substitution C A intron_variant PACA-AU 1 46213067 46213067 single base substitution G C intron_variant PACA-AU 1 46216308 46216308 single base substitution G A 5_prime_UTR_variant PACA-AU 1 46219948 46219948 single base substitution C T upstream_gene_variant PACA-AU 1 46220194 46220194 single base substitution G T upstream_gene_variant PACA-AU 1 46221189 46221189 single base substitution A C upstream_gene_variant PACA-CA 1 46157129 46157129 single base substitution C T downstream_gene_variant PACA-CA 1 46157545 46157545 deletion of <=200bp C - downstream_gene_variant PACA-CA 1 46157547 46157549 deletion of <=200bp CGG - downstream_gene_variant PACA-CA 1 46157550 46157550 insertion of <=200bp - TA downstream_gene_variant PACA-CA 1 46160089 46160095 deletion of <=200bp ATTAAAG - downstream_gene_variant PACA-CA 1 46160089 46160095 deletion of <=200bp ATTAAAG - frameshift_variant L*582 PACA-CA 1 46161184 46161184 single base substitution A G downstream_gene_variant PACA-CA 1 46161184 46161184 single base substitution A G intron_variant PACA-CA 1 46162189 46162189 single base substitution A G downstream_gene_variant PACA-CA 1 46162189 46162189 single base substitution A G intron_variant PACA-CA 1 46163678 46163678 single base substitution A C downstream_gene_variant PACA-CA 1 46163678 46163678 single base substitution A C exon_variant PACA-CA 1 46163678 46163678 single base substitution A C intron_variant PACA-CA 1 46165493 46165493 single base substitution G A 3_prime_UTR_variant PACA-CA 1 46165493 46165493 single base substitution G A exon_variant PACA-CA 1 46165493 46165493 single base substitution G A intron_variant PACA-CA 1 46165493 46165493 single base substitution G A upstream_gene_variant PACA-CA 1 46170206 46170206 single base substitution C A intron_variant PACA-CA 1 46175008 46175008 single base substitution G T intron_variant PACA-CA 1 46185391 46185392 deletion of <=200bp AG - intron_variant PACA-CA 1 46186395 46186395 single base substitution G T intron_variant PACA-CA 1 46187990 46187990 single base substitution A G intron_variant PACA-CA 1 46188400 46188400 single base substitution G C intron_variant PACA-CA 1 46188655 46188655 single base substitution G A intron_variant PACA-CA 1 46188774 46188774 single base substitution G C intron_variant PACA-CA 1 46189116 46189116 single base substitution G A intron_variant PACA-CA 1 46197212 46197212 single base substitution G T intron_variant PACA-CA 1 46199096 46199096 insertion of <=200bp - A intron_variant PACA-CA 1 46206226 46206226 deletion of <=200bp C - intron_variant PACA-CA 1 46206453 46206453 single base substitution A G intron_variant PACA-CA 1 46207710 46207710 insertion of <=200bp - A intron_variant PACA-CA 1 46208595 46208595 single base substitution T C intron_variant PACA-CA 1 46209050 46209050 single base substitution C T intron_variant PACA-CA 1 46211031 46211031 deletion of <=200bp T - intron_variant PACA-CA 1 46211231 46211231 single base substitution A G intron_variant PACA-CA 1 46212572 46212572 single base substitution G C intron_variant PACA-CA 1 46214517 46214517 single base substitution G A intron_variant PACA-CA 1 46220080 46220080 single base substitution A T upstream_gene_variant PACA-CA 1 46220081 46220081 single base substitution T A upstream_gene_variant PAEN-AU 1 46216212 46216212 single base substitution T G intron_variant PBCA-DE 1 46165466 46165466 single base substitution C A 3_prime_UTR_variant PBCA-DE 1 46165466 46165466 single base substitution C A exon_variant PBCA-DE 1 46165466 46165466 single base substitution C A intron_variant PBCA-DE 1 46165466 46165466 single base substitution C A upstream_gene_variant PBCA-DE 1 46180705 46180705 deletion of <=200bp A - intron_variant PBCA-DE 1 46180705 46180705 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 46184163 46184163 single base substitution C T intron_variant PBCA-DE 1 46184163 46184163 single base substitution C T upstream_gene_variant PBCA-DE 1 46193799 46193802 deletion of <=200bp TGTG - intron_variant PBCA-DE 1 46194640 46194641 deletion of <=200bp AT - intron_variant PBCA-DE 1 46199236 46199236 single base substitution C A intron_variant PBCA-DE 1 46199815 46199815 insertion of <=200bp - AAT intron_variant PBCA-DE 1 46203984 46203984 deletion of <=200bp T - intron_variant PBCA-DE 1 46207403 46207403 single base substitution C T intron_variant PBCA-DE 1 46213164 46213164 single base substitution T C intron_variant PBCA-DE 1 46219402 46219402 single base substitution G T upstream_gene_variant PRAD-CA 1 46162831 46162831 single base substitution G A downstream_gene_variant PRAD-CA 1 46162831 46162831 single base substitution G A exon_variant PRAD-CA 1 46162831 46162831 single base substitution G A intron_variant PRAD-CA 1 46178537 46178537 single base substitution G A intron_variant PRAD-CA 1 46215179 46215179 single base substitution G T intron_variant PRAD-UK 1 46204863 46204863 single base substitution T G intron_variant PRAD-US 1 46184897 46184898 deletion of <=200bp AC - frameshift_variant C388 PRAD-US 1 46184897 46184898 deletion of <=200bp AC - upstream_gene_variant READ-US 1 46159343 46159343 single base substitution C A downstream_gene_variant READ-US 1 46159524 46159524 single base substitution G T downstream_gene_variant READ-US 1 46180090 46180090 single base substitution C T missense_variant R453H 1358G>A READ-US 1 46180090 46180090 single base substitution C T upstream_gene_variant READ-US 1 46206743 46206743 single base substitution T A missense_variant K185I 554A>T RECA-EU 1 46193323 46193323 single base substitution C T missense_variant G343E 1028G>A RECA-EU 1 46198125 46198125 single base substitution T C intron_variant RECA-EU 1 46209565 46209565 single base substitution T A intron_variant RECA-EU 1 46221290 46221290 single base substitution G A upstream_gene_variant SKCA-BR 1 46157285 46157285 single base substitution T G downstream_gene_variant SKCA-BR 1 46159328 46159328 single base substitution T A downstream_gene_variant SKCA-BR 1 46159815 46159815 single base substitution T A downstream_gene_variant SKCA-BR 1 46160082 46160082 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 46160082 46160082 single base substitution C T downstream_gene_variant SKCA-BR 1 46161964 46161964 single base substitution G T downstream_gene_variant SKCA-BR 1 46161964 46161964 single base substitution G T intron_variant SKCA-BR 1 46162376 46162376 single base substitution C T downstream_gene_variant SKCA-BR 1 46162376 46162376 single base substitution C T intron_variant SKCA-BR 1 46170098 46170098 single base substitution T G intron_variant SKCA-BR 1 46171477 46171481 deletion of <=200bp CAACA - intron_variant SKCA-BR 1 46172337 46172337 single base substitution G A intron_variant SKCA-BR 1 46174705 46174705 insertion of <=200bp - CA intron_variant SKCA-BR 1 46178334 46178334 single base substitution C T intron_variant SKCA-BR 1 46178548 46178548 insertion of <=200bp - AT intron_variant SKCA-BR 1 46178549 46178549 single base substitution A T intron_variant SKCA-BR 1 46178550 46178550 single base substitution A T intron_variant SKCA-BR 1 46182137 46182137 single base substitution G A intron_variant SKCA-BR 1 46182137 46182137 single base substitution G A upstream_gene_variant SKCA-BR 1 46183202 46183202 single base substitution G A intron_variant SKCA-BR 1 46183202 46183202 single base substitution G A upstream_gene_variant SKCA-BR 1 46187853 46187853 single base substitution G A intron_variant SKCA-BR 1 46189625 46189625 single base substitution G A intron_variant SKCA-BR 1 46190650 46190650 single base substitution C T intron_variant SKCA-BR 1 46190785 46190785 single base substitution A G intron_variant SKCA-BR 1 46190882 46190882 single base substitution T G intron_variant SKCA-BR 1 46190903 46190903 single base substitution T C intron_variant SKCA-BR 1 46191095 46191095 single base substitution G C intron_variant SKCA-BR 1 46191188 46191188 single base substitution C T intron_variant SKCA-BR 1 46192396 46192396 insertion of <=200bp - CT intron_variant SKCA-BR 1 46193146 46193146 insertion of <=200bp - TTCCC intron_variant SKCA-BR 1 46194639 46194639 insertion of <=200bp - AAT intron_variant SKCA-BR 1 46195563 46195563 single base substitution G A intron_variant SKCA-BR 1 46199861 46199861 insertion of <=200bp - AGCAAAAAGTTGATACTG intron_variant SKCA-BR 1 46202733 46202733 single base substitution G A intron_variant SKCA-BR 1 46203983 46203983 insertion of <=200bp - AT intron_variant SKCA-BR 1 46204513 46204513 insertion of <=200bp - AAAACAAAAAAAAC intron_variant SKCA-BR 1 46204517 46204517 single base substitution A C intron_variant SKCA-BR 1 46205707 46205707 single base substitution T A intron_variant SKCA-BR 1 46209991 46209991 single base substitution T A intron_variant SKCA-BR 1 46210308 46210308 single base substitution C T intron_variant SKCA-BR 1 46210831 46210831 single base substitution G A intron_variant SKCA-BR 1 46211350 46211350 single base substitution G A intron_variant SKCA-BR 1 46215354 46215354 single base substitution G C intron_variant SKCA-BR 1 46217941 46217941 single base substitution T C upstream_gene_variant SKCA-BR 1 46220462 46220462 single base substitution C T upstream_gene_variant SKCM-US 1 46158923 46158923 single base substitution T A downstream_gene_variant SKCM-US 1 46180064 46180064 single base substitution A G missense_variant S462P 1384T>C SKCM-US 1 46180064 46180064 single base substitution A G upstream_gene_variant SKCM-US 1 46180070 46180070 single base substitution G A missense_variant P460S 1378C>T SKCM-US 1 46180070 46180070 single base substitution G A upstream_gene_variant SKCM-US 1 46195343 46195343 single base substitution G A synonymous_variant L275L 823C>T STAD-US 1 46159219 46159219 single base substitution A G downstream_gene_variant STAD-US 1 46193312 46193312 single base substitution C T missense_variant A347T 1039G>A STAD-US 1 46206587 46206587 deletion of <=200bp A - frameshift_variant L237 STAD-US 1 46211986 46211986 single base substitution C T missense_variant G33E 98G>A UCEC-US 1 46158902 46158902 single base substitution A G downstream_gene_variant UCEC-US 1 46159019 46159019 single base substitution G T downstream_gene_variant UCEC-US 1 46159189 46159189 single base substitution A C downstream_gene_variant UCEC-US 1 46159216 46159216 single base substitution C A downstream_gene_variant UCEC-US 1 46159231 46159231 single base substitution G T downstream_gene_variant UCEC-US 1 46159392 46159392 single base substitution G T downstream_gene_variant UCEC-US 1 46165666 46165666 single base substitution C T exon_variant UCEC-US 1 46165666 46165666 single base substitution C T intron_variant UCEC-US 1 46165666 46165666 single base substitution C T missense_variant R576H 1727G>A UCEC-US 1 46165666 46165666 single base substitution C T upstream_gene_variant UCEC-US 1 46184896 46184896 insertion of <=200bp - AC frameshift_variant Y389C? UCEC-US 1 46184896 46184896 insertion of <=200bp - AC upstream_gene_variant UCEC-US 1 46193313 46193313 single base substitution G A synonymous_variant Y346Y 1038C>T UCEC-US 1 46193353 46193353 single base substitution C T missense_variant R333Q 998G>A UCEC-US 1 46193465 46193465 single base substitution A G missense_variant Y296H 886T>C UCEC-US 1 46195400 46195400 single base substitution G T missense_variant L256M 766C>A UCEC-US 1 46206618 46206618 single base substitution G A stop_gained R227* 679C>T UCEC-US 1 46206708 46206708 single base substitution C A stop_gained E197* 589G>T UCEC-US 1 46211848 46211848 single base substitution G A missense_variant P79L 236C>T UCEC-US 1 46211964 46211964 single base substitution C A missense_variant Q40H 120G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand tumor_4176133 COSM3356594 c.1152A>G p.G384G Substitution - coding silent 1:45719237-45719237 - D-08 COSM4692856 c.1163_1164delGT p.C388fs*14 Deletion - Frameshift 1:45719225-45719226 - LP6005935-DNA_D01 COSM5034770 c.842G>A p.R281Q Substitution - Missense 1:45729652-45729652 - GC8_T COSM146501 c.791A>G p.K264R Substitution - Missense 1:45729703-45729703 - C0007T COSM4165215 c.1028G>A p.G343E Substitution - Missense 1:45727651-45727651 - TCGA-18-4086-01 COSM681141 c.963G>T p.Q321H Substitution - Missense 1:45727716-45727716 - T3262 COSM4692855 c.1721C>A p.T574N Substitution - Missense 1:45700000-45700000 - ESCC_14 COSM5625430 c.1025G>A p.G342E Substitution - Missense 1:45727654-45727654 - MD-331 COSM302425 c.959G>T p.S320I Substitution - Missense 1:45727720-45727720 - HCC2998 COSM1667531 c.739A>G p.N247D Substitution - Missense 1:45729755-45729755 - TCGA-AG-3892-01 COSM257179 c.1317T>G p.I439M Substitution - Missense 1:45714459-45714459 - 08-P054 COSM4577406 c.315T>C p.N105N Substitution - coding silent 1:45741310-45741310 - TCGA-B0-5711-01 COSM464695 c.65T>A p.L22H Substitution - Missense 1:45746347-45746347 - HCC139T COSM1602482 c.319G>T p.V107F Substitution - Missense 1:45741306-45741306 - SNU-283 COSM2190807 c.849G>T p.R283R Substitution - coding silent 1:45729645-45729645 - LOVO COSM2190817 c.707T>G p.L236R Substitution - Missense 1:45740918-45740918 - 2492723 COSM5723463 c.685C>T p.P229S Substitution - Missense 1:45740940-45740940 - sysucc-834T COSM5485705 c.1521C>A p.S507S Substitution - coding silent 1:45714255-45714255 - ESO-S41 COSM1254900 c.552C>G p.I184M Substitution - Missense 1:45741073-45741073 - 3N51-VS-3T51 COSM4983212 c.643A>G p.R215G Substitution - Missense 1:45740982-45740982 - C008 COSM5522911 c.15C>A p.D5E Substitution - Missense 1:45746397-45746397 - LIM1215 COSM4238904 c.89T>A p.M30K Substitution - Missense 1:45746323-45746323 - HCC2998 COSM1667531 c.739A>G p.N247D Substitution - Missense 1:45729755-45729755 - TCGA-AP-A051-01 COSM910227 c.1038C>T p.Y346Y Substitution - coding silent 1:45727641-45727641 - LS174T COSM2190827 c.365T>C p.V122A Substitution - Missense 1:45741260-45741260 - TCGA-AP-A056-01 COSM257180 c.679C>T p.R227* Substitution - Nonsense 1:45740946-45740946 - TCGA-G3-A7M5-01 COSM4942030 c.1106A>C p.Q369P Substitution - Missense 1:45719283-45719283 - Pat_53_A COSM4692856 c.1163_1164delGT p.C388fs*14 Deletion - Frameshift 1:45719225-45719226 - TCGA-BP-5180-01 COSM464694 c.1078A>T p.T360S Substitution - Missense 1:45719311-45719311 - TCGA-A7-A0CE-01 COSM426371 c.607G>T p.A203S Substitution - Missense 1:45741018-45741018 - TCGA-36-2545-01 COSM1321026 c.1042A>G p.I348V Substitution - Missense 1:45727637-45727637 - 2492722 COSM5723463 c.685C>T p.P229S Substitution - Missense 1:45740940-45740940 - TCGA-D3-A1Q6-06 COSM3490254 c.1378C>T p.P460S Substitution - Missense 1:45714398-45714398 - SH-3979 COSM4692856 c.1163_1164delGT p.C388fs*14 Deletion - Frameshift 1:45719225-45719226 - CSCC-11-T COSM4498685 c.525C>T p.F175F Substitution - coding silent 1:45741100-45741100 - TCGA-A1-A0SN-01 COSM5832610 c.1357delC p.R453fs*51 Deletion - Frameshift 1:45714419-45714419 - Patient_2 COSM5414280 c.485T>G p.I162S Substitution - Missense 1:45741140-45741140 - TCGA-DK-A1AC-01 COSM1296503 c.257G>T p.G86V Substitution - Missense 1:45746155-45746155 - 587222 COSM257180 c.679C>T p.R227* Substitution - Nonsense 1:45740946-45740946 - TCGA-BP-5180-01 COSM1134916 c.1078_1079AC>TG p.T360C Substitution - Missense 1:45719310-45719311 - TCGA-DC-5337-01 COSM1560591 c.554A>T p.K185I Substitution - Missense 1:45741071-45741071 - H1155 COSM1195969 c.362A>G p.E121G Substitution - Missense 1:45741263-45741263 - TCGA-BT-A3PH-01 COSM1296504 c.31G>A p.D11N Substitution - Missense 1:45746381-45746381 - TCGA-B5-A0JY-01 COSM910230 c.589G>T p.E197* Substitution - Nonsense 1:45741036-45741036 - TCGA-CA-5797-01 COSM1343085 c.424A>G p.I142V Substitution - Missense 1:45741201-45741201 - TCGA-CG-5723-01 COSM2190797 c.1039G>A p.A347T Substitution - Missense 1:45727640-45727640 - ESO-114 COSM1254899 c.1144G>A p.G382S Substitution - Missense 1:45719245-45719245 - sysucc-834T COSM5485707 c.337G>A p.A113T Substitution - Missense 1:45741288-45741288 - TCGA-25-2392-01 COSM71181 c.1411A>G p.M471V Substitution - Missense 1:45714365-45714365 - PT21_1 COSM4692856 c.1163_1164delGT p.C388fs*14 Deletion - Frameshift 1:45719225-45719226 - TCGA-EE-A2MP-06 COSM3490252 c.1384T>C p.S462P Substitution - Missense 1:45714392-45714392 - LUAD-LC15C COSM341855 c.1468G>T p.V490F Substitution - Missense 1:45714308-45714308 - Pat_53_A COSM5846852 c.905delG p.G302fs*12 Deletion - Frameshift 1:45727774-45727774 - TCGA-29-1691-01 COSM1321025 c.29C>G p.A10G Substitution - Missense 1:45746383-45746383 - CSCC-7-T COSM4470224 c.1648C>T p.P550S Substitution - Missense 1:45700073-45700073 - 587222 COSM167035 c.998G>A p.R333Q Substitution - Missense 1:45727681-45727681 - LC_C29 COSM1185453 c.1698G>T p.W566C Substitution - Missense 1:45700023-45700023 - PD24186a COSM5780754 c.857C>A p.A286E Substitution - Missense 1:45729637-45729637 - TCGA-IZ-A6M8-01 COSM3985109 c.437C>T p.S146F Substitution - Missense 1:45741188-45741188 - CSCC-27-T COSM4505104 c.684C>T p.F228F Substitution - coding silent 1:45740941-45740941 - 2492721 COSM5723463 c.685C>T p.P229S Substitution - Missense 1:45740940-45740940 - T3079 COSM4692856 c.1163_1164delGT p.C388fs*14 Deletion - Frameshift 1:45719225-45719226 - PD9702a COSM5794020 c.962A>T p.Q321L Substitution - Missense 1:45727717-45727717 - 2492720 COSM5723463 c.685C>T p.P229S Substitution - Missense 1:45740940-45740940 - TCGA-F5-6814-01 COSM3419280 c.1358G>A p.R453H Substitution - Missense 1:45714418-45714418 - TCGA-JX-A3Q0-01 COSM4824001 c.214G>A p.E72K Substitution - Missense 1:45746198-45746198 - SC_9019 COSM5567516 c.47C>T p.S16L Substitution - Missense 1:45746365-45746365 - TCGA-BP-5180-01 COSM464692 c.1079C>G p.T360S Substitution - Missense 1:45719310-45719310 - GC1_T COSM146500 c.1597G>T p.G533C Substitution - Missense 1:45700124-45700124 - TCGA-BH-A1FN-01 COSM1474042 c.370C>T p.H124Y Substitution - Missense 1:45741255-45741255 - 10-P083 COSM4577402 c.1642T>C p.L548L Substitution - coding silent 1:45700079-45700079 - TCGA-AP-A056-01 COSM910228 c.886T>C p.Y296H Substitution - Missense 1:45727793-45727793 - TCGA-FD-A3SS-01 COSM3790082 c.1204G>A p.E402K Substitution - Missense 1:45717000-45717000 - TCGA-AM-5821-01 COSM146501 c.791A>G p.K264R Substitution - Missense 1:45729703-45729703 - CHEWS034 COSM4577404 c.1389G>C p.K463N Substitution - Missense 1:45714387-45714387 - TCGA-FS-A1ZQ-06 COSM3490256 c.823C>T p.L275L Substitution - coding silent 1:45729671-45729671 - SH-0622 COSM4692856 c.1163_1164delGT p.C388fs*14 Deletion - Frameshift 1:45719225-45719226 - TCGA-CD-A4MG-01 COSM4008536 c.98G>A p.G33E Substitution - Missense 1:45746314-45746314 - ESCC-D20 COSM5045831 c.250G>A p.E84K Substitution - Missense 1:45746162-45746162 - C086 COSM5532779 c.1176C>T p.I392I Substitution - coding silent 1:45719213-45719213 - TCGA-B5-A0JY-01 COSM167035 c.998G>A p.R333Q Substitution - Missense 1:45727681-45727681 - Pat_76_A COSM5846854 c.290C>T p.T97I Substitution - Missense 1:45746122-45746122 - TCGA-AP-A059-01 COSM910225 c.1727G>A p.R576H Substitution - Missense 1:45699994-45699994 - TCGA-AG-3892-01 COSM257180 c.679C>T p.R227* Substitution - Nonsense 1:45740946-45740946 - SNU-C4 COSM4652515 c.114T>C p.D38D Substitution - coding silent 1:45746298-45746298 - 28 COSM146501 c.791A>G p.K264R Substitution - Missense 1:45729703-45729703 - TCGA-21-5782-01 COSM681140 c.265C>T p.Q89* Substitution - Nonsense 1:45746147-45746147 - LUAD-F00089 COSM339740 c.566G>T p.S189I Substitution - Missense 1:45741059-45741059 - HCC066T COSM5821097 c.612A>T p.A204A Substitution - coding silent 1:45741013-45741013 - HCC139 COSM1602482 c.319G>T p.V107F Substitution - Missense 1:45741306-45741306 - PT25 COSM146501 c.791A>G p.K264R Substitution - Missense 1:45729703-45729703 - TCGA-D8-A27G-01 COSM3805418 c.794C>G p.S265C Substitution - Missense 1:45729700-45729700 - LS180 COSM2190827 c.365T>C p.V122A Substitution - Missense 1:45741260-45741260 - TCGA-BS-A0T9-01 COSM910231 c.236C>T p.P79L Substitution - Missense 1:45746176-45746176 - TCGA-B5-A11H-01 COSM910226 c.1164_1165insGT p.Y389fs*16 Insertion - Frameshift 1:45719224-45719225 - U87 COSM5711992 c.1143C>T p.C381C Substitution - coding silent 1:45719246-45719246 - TCGA-B5-A0JY-01 COSM910229 c.766C>A p.L256M Substitution - Missense 1:45729728-45729728 - TCGA-DD-A4NQ-01 COSM4941082 c.1557G>T p.M519I Substitution - Missense 1:45700164-45700164 - TCGA-34-5927-01 COSM681142 c.1440G>T p.V480V Substitution - coding silent 1:45714336-45714336 - T22 COSM146501 c.791A>G p.K264R Substitution - Missense 1:45729703-45729703 - TCGA-AP-A059-01 COSM910232 c.120G>T p.Q40H Substitution - Missense 1:45746292-45746292 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.699316;Hs.699340;Hs.699361;Hs.699366;Hs.699375;Hs.699381;Hs.699389;Hs.699398;Hs.699470;Hs.699474;Hs.699485;Hs.699486;Hs.699494;Hs.699514;Hs.699519;Hs.699526;Hs.699527;Hs.699535;Hs.699539;Hs.699543;Hs.699548 1p34-p32 147485

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC - Frameshift p.C388Lfs*14 c.1163_1164delGT 1 46184897 PRAD - AC Frameshift p.C388Wfs*17 c.1163_1164insGT 1 46184897 UCEC A G IntronicSNV . c.1530+6531T>C 1 46173387 CLL A G Missense p.S462P c.1384T>C 1 46180064 CM A T Missense p.L22H c.65T>A 1 46212019 RCCC ATTGCTGAT - InFrameDeletion p.I445_N447delISN c.1333_1341delATCAGCAAT 1 46180107 RCCC C A Missense p.A203S c.607G>T 1 46206690 BRCA C A Missense p.G570C c.1708G>T 1 46165685 LUAD C A Missense p.Q321H c.963G>T 1 46193388 LUSC C A Synonymous p.V480V c.1440G>T 1 46180008 LUSC - C Frameshift p.V54Gfs*31 c.160dupG 1 46211924 RCCC C T Missense p.D11N c.31G>A 1 46212053 BLCA C T Missense p.E197K c.589G>A 1 46206708 HNSC C T Missense p.R188Q c.563G>A 1 46206734 LUAD G A Missense p.H124Y c.370C>T 1 46206927 BRCA G A Missense p.P460S c.1378C>T 1 46180070 CM G A Missense p.P79L c.236C>T 1 46211848 UCEC G A Missense p.R453C c.1357C>T 1 46180091 CM G A Nonsense p.Q89* c.265C>T 1 46211819 LUSC G A Synonymous p.L275L c.823C>T 1 46195343 CM G C Missense p.I184M c.552C>G 1 46206745 ESCA G C Missense p.L534V c.1600C>G 1 46165793 GBM G C Missense p.T360S c.1079C>G 1 46184982 RCCC T A Missense p.T360S c.1078A>T 1 46184983 RCCC TC CA Missense p.E504* c.1510_1511delinsTG 1 46179937 LUAD T C Missense p.M471V c.1411A>G 1 46180037 OV