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 5 10390534 10390534 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr5:10390534G>C c.498G>C c.(496-498)caG>caC p.Q166H BLCA 5 10391786 10391786 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr5:10391786G>C c.709G>C c.(709-711)Gag>Cag p.E237Q BLCA 5 10391798 10391798 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr5:10391798G>A c.721G>A c.(721-723)Gac>Aac p.D241N BLCA 5 10402508 10402508 + Missense_Mutation SNP C C G TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr5:10402508C>G c.1066C>G c.(1066-1068)Ctt>Gtt p.L356V BLCA 5 10402684 10402684 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr5:10402684C>G c.1162C>G c.(1162-1164)Ctc>Gtc p.L388V BLCA 5 10403539 10403539 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr5:10403539G>C c.1218G>C c.(1216-1218)ctG>ctC p.L406L BLCA 5 10403647 10403647 + Silent SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 g.chr5:10403647G>C c.1326G>C c.(1324-1326)ctG>ctC p.L442L BLCA 5 10417470 10417470 + Missense_Mutation SNP C C T TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr5:10417470C>T c.2237C>T c.(2236-2238)cCc>cTc p.P746L BRCA 5 10390504 10390504 + Silent SNP A A C TCGA-BH-A1FC-01A-11D-A13L-09 TCGA-BH-A1FC-11A-32D-A188-09 g.chr5:10390504A>C c.468A>C c.(466-468)gcA>gcC p.A156A BRCA 5 10394874 10394874 + Missense_Mutation SNP C C G TCGA-AR-A251-01A-12D-A167-09 TCGA-AR-A251-10A-01D-A167-09 g.chr5:10394874C>G c.838C>G c.(838-840)Ctt>Gtt p.L280V BRCA 5 10410284 10410284 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr5:10410284G>A c.1587G>A c.(1585-1587)ctG>ctA p.L529L BRCA 5 10430051 10430052 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr5:10430051_10430052insT c.2553_2554insT c.(2554-2556)tttfs p.F852fs CESC 5 10377945 10377945 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 g.chr5:10377945G>A c.55G>A c.(55-57)Gag>Aag p.E19K CESC 5 10377945 10377945 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr5:10377945G>C c.55G>C c.(55-57)Gag>Cag p.E19Q CESC 5 10394201 10394201 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:10394201G>A c.774G>A c.(772-774)atG>atA p.M258I CESC 5 10415612 10415612 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr5:10415612G>A c.1979G>A c.(1978-1980)cGt>cAt p.R660H CESC 5 10417496 10417496 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr5:10417496C>G c.2263C>G c.(2263-2265)Cct>Gct p.P755A CHOL 5 10402698 10402698 + Nonsense_Mutation SNP G G A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:10402698G>A c.1176G>A c.(1174-1176)tgG>tgA p.W392* CHOL 5 10411446 10411446 + Splice_Site SNP G G T TCGA-W5-AA2O-01A-11D-A417-09 TCGA-W5-AA2O-10A-01D-A41A-09 g.chr5:10411446G>T c.1693G>T c.(1693-1695)Gat>Tat p.D565Y CHOL 5 10415711 10415711 + Missense_Mutation SNP C C T TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr5:10415711C>T c.2078C>T c.(2077-2079)aCg>aTg p.T693M CHOL 5 10433774 10433774 + Missense_Mutation SNP C C T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:10433774C>T c.2711C>T c.(2710-2712)cCt>cTt p.P904L COAD 5 10378902 10378902 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:10378902G>T c.148G>T c.(148-150)Gaa>Taa p.E50* COAD 5 10378927 10378927 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:10378927G>T c.173G>T c.(172-174)aGa>aTa p.R58I COAD 5 10378928 10378928 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:10378928A>C c.174A>C c.(172-174)agA>agC p.R58S COAD 5 10391660 10391660 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr5:10391660G>A c.583G>A c.(583-585)Gca>Aca p.A195T COAD 5 10400942 10400942 + Silent SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:10400942A>G c.960A>G c.(958-960)ggA>ggG p.G320G COAD 5 10402530 10402530 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:10402530G>A c.1088G>A c.(1087-1089)cGt>cAt p.R363H COAD 5 10402702 10402702 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:10402702C>T c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L COAD 5 10411625 10411625 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:10411625C>T c.1872C>T c.(1870-1872)cgC>cgT p.R624R COAD 5 10415633 10415633 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:10415633C>T c.2000C>T c.(1999-2001)aCg>aTg p.T667M COAD 5 10430065 10430065 + Missense_Mutation SNP T T A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:10430065T>A c.2567T>A c.(2566-2568)gTc>gAc p.V856D COADREAD 5 10378902 10378902 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:10378902G>T c.148G>T c.(148-150)Gaa>Taa p.E50* COADREAD 5 10378927 10378927 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:10378927G>T c.173G>T c.(172-174)aGa>aTa p.R58I COADREAD 5 10378928 10378928 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:10378928A>C c.174A>C c.(172-174)agA>agC p.R58S COADREAD 5 10390608 10390608 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:10390608A>G c.572A>G c.(571-573)aAt>aGt p.N191S COADREAD 5 10391660 10391660 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr5:10391660G>A c.583G>A c.(583-585)Gca>Aca p.A195T COADREAD 5 10400942 10400942 + Silent SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:10400942A>G c.960A>G c.(958-960)ggA>ggG p.G320G COADREAD 5 10402530 10402530 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:10402530G>A c.1088G>A c.(1087-1089)cGt>cAt p.R363H COADREAD 5 10402702 10402702 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:10402702C>T c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L COADREAD 5 10411625 10411625 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:10411625C>T c.1872C>T c.(1870-1872)cgC>cgT p.R624R COADREAD 5 10415633 10415633 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:10415633C>T c.2000C>T c.(1999-2001)aCg>aTg p.T667M COADREAD 5 10430065 10430065 + Missense_Mutation SNP T T A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:10430065T>A c.2567T>A c.(2566-2568)gTc>gAc p.V856D COADREAD 5 10433737 10433737 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:10433737G>A c.2674G>A c.(2674-2676)Gaa>Aaa p.E892K ESCA 5 10382027 10382027 + Silent SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr5:10382027A>G c.306A>G c.(304-306)gcA>gcG p.A102A ESCA 5 10402530 10402530 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr5:10402530G>A c.1088G>A c.(1087-1089)cGt>cAt p.R363H ESCA 5 10403651 10403651 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr5:10403651G>C c.1330G>C c.(1330-1332)Gag>Cag p.E444Q ESCA 5 10405769 10405769 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr5:10405769C>A c.1432C>A c.(1432-1434)Cga>Aga p.R478R ESCA 5 10410318 10410318 + Nonsense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr5:10410318G>T c.1621G>T c.(1621-1623)Gaa>Taa p.E541* ESCA 5 10410323 10410323 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr5:10410323G>T c.1626G>T c.(1624-1626)caG>caT p.Q542H ESCA 5 10411602 10411602 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr5:10411602C>T c.1849C>T c.(1849-1851)Cct>Tct p.P617S GBM 5 10387160 10387160 + Missense_Mutation SNP C C G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 g.chr5:10387160C>G c.389C>G c.(388-390)cCa>cGa p.P130R GBM 5 10394249 10394249 + Nonsense_Mutation SNP G G A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr5:10394249G>A c.822G>A c.(820-822)tgG>tgA p.W274* GBM 5 10423856 10423857 + Frame_Shift_Ins INS - - T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr5:10423856_10423857insT c.2293_2294insT c.(2293-2295)cttfs p.L765fs GBMLGG 5 10387155 10387155 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:10387155G>A c.384G>A c.(382-384)acG>acA p.T128T GBMLGG 5 10387160 10387160 + Missense_Mutation SNP C C G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 g.chr5:10387160C>G c.389C>G c.(388-390)cCa>cGa p.P130R GBMLGG 5 10394249 10394249 + Nonsense_Mutation SNP G G A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr5:10394249G>A c.822G>A c.(820-822)tgG>tgA p.W274* GBMLGG 5 10411624 10411624 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:10411624G>A c.1871G>A c.(1870-1872)cGc>cAc p.R624H GBMLGG 5 10423856 10423857 + Frame_Shift_Ins INS - - T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr5:10423856_10423857insT c.2293_2294insT c.(2293-2295)cttfs p.L765fs GBMLGG 5 10426541 10426541 + Missense_Mutation SNP A A T TCGA-HT-7875-01A-11D-2395-08 TCGA-HT-7875-10A-01D-2396-08 g.chr5:10426541A>T c.2413A>T c.(2413-2415)Att>Ttt p.I805F HNSC 5 10400928 10400928 + Missense_Mutation SNP C C T TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr5:10400928C>T c.946C>T c.(946-948)Ctt>Ttt p.L316F HNSC 5 10405687 10405687 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr5:10405687C>T c.1350C>T c.(1348-1350)gtC>gtT p.V450V HNSC 5 10407240 10407240 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr5:10407240G>A c.1479G>A c.(1477-1479)ctG>ctA p.L493L HNSC 5 10411555 10411555 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr5:10411555G>A c.1802G>A c.(1801-1803)gGa>gAa p.G601E HNSC 5 10414543 10414543 + Splice_Site SNP A A T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr5:10414543A>T c.e20-1 HNSC 5 10415698 10415698 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chr5:10415698A>G c.2065A>G c.(2065-2067)Ata>Gta p.I689V HNSC 5 10415712 10415712 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr5:10415712G>A c.2079G>A c.(2077-2079)acG>acA p.T693T HNSC 5 10423860 10423860 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 g.chr5:10423860G>C c.2297G>C c.(2296-2298)gGa>gCa p.G766A HNSC 5 10423871 10423871 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr5:10423871G>T c.2308G>T c.(2308-2310)Gcc>Tcc p.A770S HNSC 5 10433762 10433762 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr5:10433762C>T c.2699C>T c.(2698-2700)tCa>tTa p.S900L KIPAN 5 10407230 10407230 + Missense_Mutation SNP T T C TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr5:10407230T>C c.1469T>C c.(1468-1470)aTt>aCt p.I490T KIPAN 5 10417514 10417514 + Missense_Mutation SNP C C A TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr5:10417514C>A c.2281C>A c.(2281-2283)Cag>Aag p.Q761K KIRC 5 10407230 10407230 + Missense_Mutation SNP T T C TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr5:10407230T>C c.1469T>C c.(1468-1470)aTt>aCt p.I490T KIRC 5 10417514 10417514 + Missense_Mutation SNP C C A TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr5:10417514C>A c.2281C>A c.(2281-2283)Cag>Aag p.Q761K LGG 5 10387155 10387155 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:10387155G>A c.384G>A c.(382-384)acG>acA p.T128T LGG 5 10411624 10411624 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:10411624G>A c.1871G>A c.(1870-1872)cGc>cAc p.R624H LGG 5 10426541 10426541 + Missense_Mutation SNP A A T TCGA-HT-7875-01A-11D-2395-08 TCGA-HT-7875-10A-01D-2396-08 g.chr5:10426541A>T c.2413A>T c.(2413-2415)Att>Ttt p.I805F LIHC 5 10391780 10391780 + Missense_Mutation SNP G G C TCGA-DD-A4NN-01A-11D-A28X-10 TCGA-DD-A4NN-10A-01D-A28X-10 g.chr5:10391780G>C c.703G>C c.(703-705)Gac>Cac p.D235H LIHC 5 10403536 10403536 + Silent SNP T T A TCGA-DD-A4NI-01A-11D-A27I-10 TCGA-DD-A4NI-10A-01D-A27I-10 g.chr5:10403536T>A c.1215T>A c.(1213-1215)acT>acA p.T405T LUAD 5 10381944 10381944 + Missense_Mutation SNP A A T TCGA-75-6206-01A-11D-1753-08 TCGA-75-6206-10A-01D-1753-08 g.chr5:10381944A>T c.223A>T c.(223-225)Att>Ttt p.I75F LUAD 5 10382001 10382001 + Missense_Mutation SNP T T A TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr5:10382001T>A c.280T>A c.(280-282)Ttt>Att p.F94I LUAD 5 10382003 10382003 + Missense_Mutation SNP T T A TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr5:10382003T>A c.282T>A c.(280-282)ttT>ttA p.F94L LUAD 5 10402501 10402501 + Missense_Mutation SNP G G T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr5:10402501G>T c.1059G>T c.(1057-1059)ttG>ttT p.L353F LUAD 5 10402693 10402693 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr5:10402693G>A c.1171G>A c.(1171-1173)Ggt>Agt p.G391S LUAD 5 10403613 10403613 + Missense_Mutation SNP A A G TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr5:10403613A>G c.1292A>G c.(1291-1293)tAt>tGt p.Y431C LUAD 5 10407232 10407232 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr5:10407232G>T c.1471G>T c.(1471-1473)Gtc>Ttc p.V491F LUAD 5 10410252 10410252 + Splice_Site SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr5:10410252G>A c.1555G>A c.(1555-1557)Gat>Aat p.D519N LUAD 5 10411648 10411648 + Splice_Site SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr5:10411648G>A c.1895G>A c.(1894-1896)aGg>aAg p.R632K LUAD 5 10415612 10415612 + Missense_Mutation SNP G G T TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr5:10415612G>T c.1979G>T c.(1978-1980)cGt>cTt p.R660L LUAD 5 10415713 10415713 + Missense_Mutation SNP G G T TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr5:10415713G>T c.2080G>T c.(2080-2082)Gtg>Ttg p.V694L LUAD 5 10415778 10415778 + Silent SNP C C T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr5:10415778C>T c.2145C>T c.(2143-2145)ctC>ctT p.L715L LUAD 5 10417474 10417474 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr5:10417474G>A c.2241G>A c.(2239-2241)ctG>ctA p.L747L LUAD 5 10417481 10417481 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr5:10417481C>T c.2248C>T c.(2248-2250)Ccc>Tcc p.P750S LUAD 5 10423937 10423937 + Splice_Site SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr5:10423937G>T c.e23+1 LUAD 5 10426547 10426547 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 g.chr5:10426547C>T c.2419C>T c.(2419-2421)Cgt>Tgt p.R807C LUAD 5 10426634 10426634 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr5:10426634G>C c.2506G>C c.(2506-2508)Ggt>Cgt p.G836R LUSC 5 10382034 10382034 + Nonsense_Mutation SNP G G T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr5:10382034G>T c.313G>T c.(313-315)Gga>Tga p.G105* LUSC 5 10390501 10390501 + Silent SNP T T C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr5:10390501T>C c.465T>C c.(463-465)tgT>tgC p.C155C LUSC 5 10391811 10391811 + Missense_Mutation SNP A A G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 g.chr5:10391811A>G c.734A>G c.(733-735)gAg>gGg p.E245G LUSC 5 10402206 10402206 + Silent SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr5:10402206C>T c.1008C>T c.(1006-1008)acC>acT p.T336T LUSC 5 10402650 10402650 + Silent SNP T T C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr5:10402650T>C c.1128T>C c.(1126-1128)tcT>tcC p.S376S LUSC 5 10403543 10403543 + Missense_Mutation SNP G G C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr5:10403543G>C c.1222G>C c.(1222-1224)Gat>Cat p.D408H LUSC 5 10405729 10405729 + Silent SNP A A T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr5:10405729A>T c.1392A>T c.(1390-1392)ccA>ccT p.P464P LUSC 5 10405769 10405769 + Nonsense_Mutation SNP C C T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr5:10405769C>T c.1432C>T c.(1432-1434)Cga>Tga p.R478* LUSC 5 10410360 10410360 + Missense_Mutation SNP G G T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr5:10410360G>T c.1663G>T c.(1663-1665)Gcg>Tcg p.A555S LUSC 5 10410379 10410379 + Missense_Mutation SNP G G C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr5:10410379G>C c.1682G>C c.(1681-1683)gGa>gCa p.G561A LUSC 5 10411539 10411539 + Missense_Mutation SNP G G A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr5:10411539G>A c.1786G>A c.(1786-1788)Gct>Act p.A596T LUSC 5 10411627 10411627 + Missense_Mutation SNP G G T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr5:10411627G>T c.1874G>T c.(1873-1875)cGa>cTa p.R625L LUSC 5 10414598 10414598 + Silent SNP C C T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr5:10414598C>T c.1950C>T c.(1948-1950)atC>atT p.I650I LUSC 5 10417441 10417441 + Silent SNP G G C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr5:10417441G>C c.2208G>C c.(2206-2208)ggG>ggC p.G736G LUSC 5 10426588 10426588 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:10426588C>T c.2460C>T c.(2458-2460)tcC>tcT p.S820S OV 5 10415676 10415676 + Silent SNP T T G TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 g.chr5:10415676T>G c.2043T>G c.(2041-2043)ggT>ggG p.G681G PAAD 5 10391791 10391791 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:10391791G>T c.714G>T c.(712-714)gaG>gaT p.E238D PAAD 5 10426548 10426548 + Missense_Mutation SNP G G A TCGA-IB-A5SO-01A-11D-A32N-08 TCGA-IB-A5SO-10A-01D-A32N-08 g.chr5:10426548G>A c.2420G>A c.(2419-2421)cGt>cAt p.R807H PAAD 5 10426548 10426548 + Missense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr5:10426548G>A c.2420G>A c.(2419-2421)cGt>cAt p.R807H PRAD 5 10414606 10414606 + Missense_Mutation SNP C C G TCGA-J4-AAU2-01A-11D-A41K-08 TCGA-J4-AAU2-10A-01D-A41N-08 g.chr5:10414606C>G c.1958C>G c.(1957-1959)aCt>aGt p.T653S PRAD 5 10426565 10426565 + Missense_Mutation SNP G G A TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 g.chr5:10426565G>A c.2437G>A c.(2437-2439)Gtg>Atg p.V813M READ 5 10390608 10390608 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:10390608A>G c.572A>G c.(571-573)aAt>aGt p.N191S READ 5 10433737 10433737 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:10433737G>A c.2674G>A c.(2674-2676)Gaa>Aaa p.E892K SARC 5 10403604 10403604 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 g.chr5:10403604G>A c.1283G>A c.(1282-1284)gGa>gAa p.G428E SKCM 5 10381949 10381949 + Silent SNP A A G TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:10381949A>G c.228A>G c.(226-228)caA>caG p.Q76Q SKCM 5 10382043 10382043 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:10382043C>T c.322C>T c.(322-324)Cct>Tct p.P108S SKCM 5 10390517 10390517 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr5:10390517G>C c.481G>C c.(481-483)Gtg>Ctg p.V161L SKCM 5 10402676 10402676 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr5:10402676T>C c.1154T>C c.(1153-1155)gTa>gCa p.V385A SKCM 5 10403570 10403570 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr5:10403570C>T c.1249C>T c.(1249-1251)Cca>Tca p.P417S SKCM 5 10405768 10405768 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:10405768C>T c.1431C>T c.(1429-1431)ctC>ctT p.L477L SKCM 5 10415637 10415637 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr5:10415637G>A c.2004G>A c.(2002-2004)ggG>ggA p.G668G SKCM 5 10426508 10426508 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr5:10426508G>A c.2380G>A c.(2380-2382)Gca>Aca p.A794T SKCM 5 10426588 10426588 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:10426588C>T c.2460C>T c.(2458-2460)tcC>tcT p.S820S SKCM 5 10426625 10426625 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr5:10426625C>T c.2497C>T c.(2497-2499)Cct>Tct p.P833S SKCM 5 10430029 10430029 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr5:10430029T>A c.2531T>A c.(2530-2532)tTa>tAa p.L844*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 5 10415741 10415741 single base substitution G A exon_variant ALL-US 5 10415741 10415741 single base substitution G A missense_variant R401H 1202G>A ALL-US 5 10415741 10415741 single base substitution G A missense_variant R598H 1793G>A ALL-US 5 10415741 10415741 single base substitution G A missense_variant R655H 1964G>A ALL-US 5 10415741 10415741 single base substitution G A missense_variant R703H 2108G>A BLCA-CN 5 10382036 10382036 single base substitution A T exon_variant BLCA-CN 5 10382036 10382036 single base substitution A T intron_variant BLCA-CN 5 10382036 10382036 single base substitution A T synonymous_variant G105G 315A>T BLCA-CN 5 10411456 10411456 single base substitution C T exon_variant BLCA-CN 5 10411456 10411456 single base substitution C T missense_variant S266F 797C>T BLCA-CN 5 10411456 10411456 single base substitution C T missense_variant S463F 1388C>T BLCA-CN 5 10411456 10411456 single base substitution C T missense_variant S520F 1559C>T BLCA-CN 5 10411456 10411456 single base substitution C T missense_variant S568F 1703C>T BLCA-CN 5 10411456 10411456 single base substitution C T upstream_gene_variant BLCA-CN 5 10426597 10426597 single base substitution A T downstream_gene_variant BLCA-CN 5 10426597 10426597 single base substitution A T exon_variant BLCA-CN 5 10426597 10426597 single base substitution A T synonymous_variant V521V 1563A>T BLCA-CN 5 10426597 10426597 single base substitution A T synonymous_variant V718V 2154A>T BLCA-CN 5 10426597 10426597 single base substitution A T synonymous_variant V775V 2325A>T BLCA-CN 5 10426597 10426597 single base substitution A T synonymous_variant V823V 2469A>T BLCA-CN 5 10430067 10430067 single base substitution G A exon_variant BLCA-CN 5 10430067 10430067 single base substitution G A missense_variant V555M 1663G>A BLCA-CN 5 10430067 10430067 single base substitution G A missense_variant V752M 2254G>A BLCA-CN 5 10430067 10430067 single base substitution G A missense_variant V809M 2425G>A BLCA-CN 5 10430067 10430067 single base substitution G A missense_variant V857M 2569G>A BLCA-CN 5 10430067 10430067 single base substitution G A upstream_gene_variant BLCA-US 5 10390534 10390534 single base substitution G C 3_prime_UTR_variant BLCA-US 5 10390534 10390534 single base substitution G C exon_variant BLCA-US 5 10390534 10390534 single base substitution G C missense_variant Q118H 354G>C BLCA-US 5 10390534 10390534 single base substitution G C missense_variant Q166H 498G>C BLCA-US 5 10390534 10390534 single base substitution G C missense_variant Q61H 183G>C BLCA-US 5 10391786 10391786 single base substitution G C downstream_gene_variant BLCA-US 5 10391786 10391786 single base substitution G C exon_variant BLCA-US 5 10391786 10391786 single base substitution G C missense_variant E132Q 394G>C BLCA-US 5 10391786 10391786 single base substitution G C missense_variant E189Q 565G>C BLCA-US 5 10391786 10391786 single base substitution G C missense_variant E237Q 709G>C BLCA-US 5 10391798 10391798 single base substitution G A downstream_gene_variant BLCA-US 5 10391798 10391798 single base substitution G A exon_variant BLCA-US 5 10391798 10391798 single base substitution G A missense_variant D136N 406G>A BLCA-US 5 10391798 10391798 single base substitution G A missense_variant D193N 577G>A BLCA-US 5 10391798 10391798 single base substitution G A missense_variant D241N 721G>A BLCA-US 5 10402684 10402684 single base substitution C G downstream_gene_variant BLCA-US 5 10402684 10402684 single base substitution C G exon_variant BLCA-US 5 10402684 10402684 single base substitution C G missense_variant L283V 847C>G BLCA-US 5 10402684 10402684 single base substitution C G missense_variant L340V 1018C>G BLCA-US 5 10402684 10402684 single base substitution C G missense_variant L388V 1162C>G BLCA-US 5 10402684 10402684 single base substitution C G missense_variant L86V 256C>G BLCA-US 5 10403539 10403539 single base substitution G C downstream_gene_variant BLCA-US 5 10403539 10403539 single base substitution G C exon_variant BLCA-US 5 10403539 10403539 single base substitution G C synonymous_variant L104L 312G>C BLCA-US 5 10403539 10403539 single base substitution G C synonymous_variant L301L 903G>C BLCA-US 5 10403539 10403539 single base substitution G C synonymous_variant L358L 1074G>C BLCA-US 5 10403539 10403539 single base substitution G C synonymous_variant L406L 1218G>C BOCA-FR 5 10357430 10357430 single base substitution A G intron_variant BOCA-FR 5 10399626 10399626 single base substitution A T intron_variant BOCA-FR 5 10399626 10399626 single base substitution A T upstream_gene_variant BRCA-EU 5 10349809 10349809 single base substitution A T upstream_gene_variant BRCA-EU 5 10350028 10350028 insertion of <=200bp - C upstream_gene_variant BRCA-EU 5 10352008 10352008 single base substitution C A upstream_gene_variant BRCA-EU 5 10352009 10352009 single base substitution C A upstream_gene_variant BRCA-EU 5 10352678 10352679 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 5 10352790 10352790 single base substitution C T upstream_gene_variant BRCA-EU 5 10353324 10353324 single base substitution C T upstream_gene_variant BRCA-EU 5 10353777 10353777 single base substitution C T upstream_gene_variant BRCA-EU 5 10358384 10358384 single base substitution A T intron_variant BRCA-EU 5 10358401 10358401 single base substitution A G intron_variant BRCA-EU 5 10359896 10359896 single base substitution C T intron_variant BRCA-EU 5 10360118 10360118 deletion of <=200bp A - intron_variant BRCA-EU 5 10363014 10363014 deletion of <=200bp T - intron_variant BRCA-EU 5 10363771 10363771 single base substitution C T intron_variant BRCA-EU 5 10364199 10364199 single base substitution T C intron_variant BRCA-EU 5 10364571 10364571 single base substitution C G intron_variant BRCA-EU 5 10365663 10365663 single base substitution C G intron_variant BRCA-EU 5 10366277 10366277 single base substitution C G intron_variant BRCA-EU 5 10367640 10367640 single base substitution C T intron_variant BRCA-EU 5 10370071 10370071 single base substitution G C intron_variant BRCA-EU 5 10371108 10371108 single base substitution G A intron_variant BRCA-EU 5 10372388 10372388 single base substitution T G intron_variant BRCA-EU 5 10374399 10374399 single base substitution C G intron_variant BRCA-EU 5 10375385 10375385 single base substitution C T intron_variant BRCA-EU 5 10375458 10375458 single base substitution C G intron_variant BRCA-EU 5 10376017 10376017 single base substitution C T intron_variant BRCA-EU 5 10376597 10376597 single base substitution G A intron_variant BRCA-EU 5 10376916 10376916 single base substitution G C intron_variant BRCA-EU 5 10377118 10377118 single base substitution T C intron_variant BRCA-EU 5 10377324 10377324 single base substitution C T intron_variant BRCA-EU 5 10378880 10378880 single base substitution A G exon_variant BRCA-EU 5 10378880 10378880 single base substitution A G intron_variant BRCA-EU 5 10378880 10378880 single base substitution A G synonymous_variant Q42Q 126A>G BRCA-EU 5 10379178 10379178 deletion of <=200bp T - intron_variant BRCA-EU 5 10379334 10379334 deletion of <=200bp T - intron_variant BRCA-EU 5 10381974 10381974 single base substitution A T exon_variant BRCA-EU 5 10381974 10381974 single base substitution A T intron_variant BRCA-EU 5 10381974 10381974 single base substitution A T missense_variant S85C 253A>T BRCA-EU 5 10382750 10382750 single base substitution C A intron_variant BRCA-EU 5 10382750 10382750 single base substitution C A upstream_gene_variant BRCA-EU 5 10382926 10382926 single base substitution G T intron_variant BRCA-EU 5 10382926 10382926 single base substitution G T upstream_gene_variant BRCA-EU 5 10383615 10383615 single base substitution C T intron_variant BRCA-EU 5 10383615 10383615 single base substitution C T upstream_gene_variant BRCA-EU 5 10383749 10383749 single base substitution C G intron_variant BRCA-EU 5 10383749 10383749 single base substitution C G upstream_gene_variant BRCA-EU 5 10383880 10383880 single base substitution T G intron_variant BRCA-EU 5 10383880 10383880 single base substitution T G upstream_gene_variant BRCA-EU 5 10384971 10384971 single base substitution A G intron_variant BRCA-EU 5 10384971 10384971 single base substitution A G upstream_gene_variant BRCA-EU 5 10386977 10386977 single base substitution G C intron_variant BRCA-EU 5 10386977 10386977 single base substitution G C upstream_gene_variant BRCA-EU 5 10387473 10387473 single base substitution G T intron_variant BRCA-EU 5 10390529 10390529 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 10390529 10390529 single base substitution G C exon_variant BRCA-EU 5 10390529 10390529 single base substitution G C missense_variant E117Q 349G>C BRCA-EU 5 10390529 10390529 single base substitution G C missense_variant E165Q 493G>C BRCA-EU 5 10390529 10390529 single base substitution G C missense_variant E60Q 178G>C BRCA-EU 5 10393178 10393178 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 10393178 10393178 deletion of <=200bp T - intron_variant BRCA-EU 5 10393649 10393649 single base substitution C A downstream_gene_variant BRCA-EU 5 10393649 10393649 single base substitution C A intron_variant BRCA-EU 5 10394793 10394793 single base substitution G T downstream_gene_variant BRCA-EU 5 10394793 10394793 single base substitution G T intron_variant BRCA-EU 5 10395206 10395206 single base substitution C T downstream_gene_variant BRCA-EU 5 10395206 10395206 single base substitution C T intron_variant BRCA-EU 5 10396569 10396569 single base substitution G T downstream_gene_variant BRCA-EU 5 10396569 10396569 single base substitution G T intron_variant BRCA-EU 5 10396569 10396569 single base substitution G T upstream_gene_variant BRCA-EU 5 10397299 10397299 single base substitution C G intron_variant BRCA-EU 5 10397299 10397299 single base substitution C G upstream_gene_variant BRCA-EU 5 10397664 10397664 single base substitution A G intron_variant BRCA-EU 5 10397664 10397664 single base substitution A G upstream_gene_variant BRCA-EU 5 10398955 10398955 single base substitution A G intron_variant BRCA-EU 5 10398955 10398955 single base substitution A G upstream_gene_variant BRCA-EU 5 10399418 10399418 single base substitution C T intron_variant BRCA-EU 5 10399418 10399418 single base substitution C T upstream_gene_variant BRCA-EU 5 10400969 10400969 single base substitution T A exon_variant BRCA-EU 5 10400969 10400969 single base substitution T A intron_variant BRCA-EU 5 10400969 10400969 single base substitution T A upstream_gene_variant BRCA-EU 5 10401377 10401377 single base substitution G C exon_variant BRCA-EU 5 10401377 10401377 single base substitution G C intron_variant BRCA-EU 5 10401377 10401377 single base substitution G C upstream_gene_variant BRCA-EU 5 10401704 10401704 single base substitution T C exon_variant BRCA-EU 5 10401704 10401704 single base substitution T C intron_variant BRCA-EU 5 10401704 10401704 single base substitution T C upstream_gene_variant BRCA-EU 5 10402086 10402086 single base substitution G C 5_prime_UTR_variant BRCA-EU 5 10402086 10402086 single base substitution G C exon_variant BRCA-EU 5 10402086 10402086 single base substitution G C intron_variant BRCA-EU 5 10402177 10402177 single base substitution G A exon_variant BRCA-EU 5 10402177 10402177 single base substitution G A missense_variant A222T 664G>A BRCA-EU 5 10402177 10402177 single base substitution G A missense_variant A25T 73G>A BRCA-EU 5 10402177 10402177 single base substitution G A missense_variant A279T 835G>A BRCA-EU 5 10402177 10402177 single base substitution G A missense_variant A327T 979G>A BRCA-EU 5 10404604 10404604 single base substitution T G downstream_gene_variant BRCA-EU 5 10404604 10404604 single base substitution T G intron_variant BRCA-EU 5 10405439 10405439 deletion of <=200bp C - downstream_gene_variant BRCA-EU 5 10405439 10405439 deletion of <=200bp C - intron_variant BRCA-EU 5 10405439 10405439 deletion of <=200bp C - upstream_gene_variant BRCA-EU 5 10406383 10406383 single base substitution C T downstream_gene_variant BRCA-EU 5 10406383 10406383 single base substitution C T intron_variant BRCA-EU 5 10406383 10406383 single base substitution C T upstream_gene_variant BRCA-EU 5 10406453 10406453 single base substitution C G downstream_gene_variant BRCA-EU 5 10406453 10406453 single base substitution C G intron_variant BRCA-EU 5 10406453 10406453 single base substitution C G upstream_gene_variant BRCA-EU 5 10408503 10408503 single base substitution A G intron_variant BRCA-EU 5 10408503 10408503 single base substitution A G upstream_gene_variant BRCA-EU 5 10408933 10408933 single base substitution G C intron_variant BRCA-EU 5 10408933 10408933 single base substitution G C upstream_gene_variant BRCA-EU 5 10409892 10409892 single base substitution G A intron_variant BRCA-EU 5 10409892 10409892 single base substitution G A upstream_gene_variant BRCA-EU 5 10410529 10410529 single base substitution T G intron_variant BRCA-EU 5 10410529 10410529 single base substitution T G upstream_gene_variant BRCA-EU 5 10410638 10410638 single base substitution G T intron_variant BRCA-EU 5 10410638 10410638 single base substitution G T upstream_gene_variant BRCA-EU 5 10410788 10410788 deletion of <=200bp T - intron_variant BRCA-EU 5 10410788 10410788 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 10411614 10411614 single base substitution C T exon_variant BRCA-EU 5 10411614 10411614 single base substitution C T stop_gained Q319* 955C>T BRCA-EU 5 10411614 10411614 single base substitution C T stop_gained Q516* 1546C>T BRCA-EU 5 10411614 10411614 single base substitution C T stop_gained Q573* 1717C>T BRCA-EU 5 10411614 10411614 single base substitution C T stop_gained Q621* 1861C>T BRCA-EU 5 10411614 10411614 single base substitution C T upstream_gene_variant BRCA-EU 5 10412225 10412225 single base substitution A T intron_variant BRCA-EU 5 10412225 10412225 single base substitution A T upstream_gene_variant BRCA-EU 5 10412367 10412367 single base substitution C T intron_variant BRCA-EU 5 10412367 10412367 single base substitution C T upstream_gene_variant BRCA-EU 5 10412900 10412900 single base substitution C G intron_variant BRCA-EU 5 10412900 10412900 single base substitution C G upstream_gene_variant BRCA-EU 5 10414415 10414415 single base substitution G A intron_variant BRCA-EU 5 10414415 10414415 single base substitution G A upstream_gene_variant BRCA-EU 5 10414474 10414474 single base substitution T C intron_variant BRCA-EU 5 10414474 10414474 single base substitution T C upstream_gene_variant BRCA-EU 5 10417387 10417387 single base substitution G A exon_variant BRCA-EU 5 10417387 10417387 single base substitution G A missense_variant M416I 1248G>A BRCA-EU 5 10417387 10417387 single base substitution G A missense_variant M613I 1839G>A BRCA-EU 5 10417387 10417387 single base substitution G A missense_variant M670I 2010G>A BRCA-EU 5 10417387 10417387 single base substitution G A missense_variant M718I 2154G>A BRCA-EU 5 10418553 10418553 single base substitution C G downstream_gene_variant BRCA-EU 5 10418553 10418553 single base substitution C G intron_variant BRCA-EU 5 10418924 10418924 single base substitution C T downstream_gene_variant BRCA-EU 5 10418924 10418924 single base substitution C T intron_variant BRCA-EU 5 10419152 10419152 single base substitution C T downstream_gene_variant BRCA-EU 5 10419152 10419152 single base substitution C T intron_variant BRCA-EU 5 10419912 10419912 single base substitution C T downstream_gene_variant BRCA-EU 5 10419912 10419912 single base substitution C T intron_variant BRCA-EU 5 10420767 10420767 single base substitution C G downstream_gene_variant BRCA-EU 5 10420767 10420767 single base substitution C G intron_variant BRCA-EU 5 10421523 10421523 single base substitution G C downstream_gene_variant BRCA-EU 5 10421523 10421523 single base substitution G C intron_variant BRCA-EU 5 10422464 10422464 single base substitution A C downstream_gene_variant BRCA-EU 5 10422464 10422464 single base substitution A C intron_variant BRCA-EU 5 10424084 10424084 single base substitution A T downstream_gene_variant BRCA-EU 5 10424084 10424084 single base substitution A T intron_variant BRCA-EU 5 10425525 10425527 deletion of <=200bp CAT - downstream_gene_variant BRCA-EU 5 10425525 10425527 deletion of <=200bp CAT - intron_variant BRCA-EU 5 10427666 10427666 single base substitution C T downstream_gene_variant BRCA-EU 5 10427666 10427666 single base substitution C T intron_variant BRCA-EU 5 10429840 10429840 single base substitution G A intron_variant BRCA-EU 5 10429840 10429840 single base substitution G A upstream_gene_variant BRCA-EU 5 10431493 10431493 single base substitution T C intron_variant BRCA-EU 5 10431493 10431493 single base substitution T C upstream_gene_variant BRCA-EU 5 10432407 10432407 single base substitution C T intron_variant BRCA-EU 5 10432407 10432407 single base substitution C T upstream_gene_variant BRCA-EU 5 10437215 10437215 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 10437215 10437215 single base substitution C T downstream_gene_variant BRCA-EU 5 10437215 10437215 single base substitution C T exon_variant BRCA-EU 5 10437243 10437243 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 10437243 10437243 single base substitution C G downstream_gene_variant BRCA-EU 5 10437243 10437243 single base substitution C G exon_variant BRCA-EU 5 10438339 10438339 single base substitution G T 3_prime_UTR_variant BRCA-EU 5 10438339 10438339 single base substitution G T downstream_gene_variant BRCA-EU 5 10438847 10438847 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 10438847 10438847 single base substitution G A downstream_gene_variant BRCA-EU 5 10439319 10439319 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 10439319 10439319 single base substitution G C downstream_gene_variant BRCA-EU 5 10441594 10441594 single base substitution G T downstream_gene_variant BRCA-EU 5 10441772 10441772 single base substitution G T downstream_gene_variant BRCA-EU 5 10443873 10443873 single base substitution G A downstream_gene_variant BRCA-FR 5 10351312 10351312 single base substitution G A upstream_gene_variant BRCA-FR 5 10365663 10365663 single base substitution C G intron_variant BRCA-FR 5 10366277 10366277 single base substitution C G intron_variant BRCA-FR 5 10368700 10368700 single base substitution C T intron_variant BRCA-FR 5 10376597 10376597 single base substitution G A intron_variant BRCA-FR 5 10376916 10376916 single base substitution G C intron_variant BRCA-FR 5 10377118 10377118 single base substitution T C intron_variant BRCA-FR 5 10377443 10377443 single base substitution G T intron_variant BRCA-FR 5 10410520 10410520 single base substitution G T intron_variant BRCA-FR 5 10410520 10410520 single base substitution G T upstream_gene_variant BRCA-FR 5 10418924 10418924 single base substitution C T downstream_gene_variant BRCA-FR 5 10418924 10418924 single base substitution C T intron_variant BRCA-FR 5 10427666 10427666 single base substitution C T downstream_gene_variant BRCA-FR 5 10427666 10427666 single base substitution C T intron_variant BRCA-FR 5 10439319 10439319 single base substitution G C 3_prime_UTR_variant BRCA-FR 5 10439319 10439319 single base substitution G C downstream_gene_variant BRCA-UK 5 10365000 10365000 single base substitution C T intron_variant BRCA-UK 5 10365446 10365446 single base substitution C T intron_variant BRCA-UK 5 10374047 10374047 single base substitution C A intron_variant BRCA-US 5 10390504 10390504 single base substitution A C 3_prime_UTR_variant BRCA-US 5 10390504 10390504 single base substitution A C exon_variant BRCA-US 5 10390504 10390504 single base substitution A C synonymous_variant A108A 324A>C BRCA-US 5 10390504 10390504 single base substitution A C synonymous_variant A156A 468A>C BRCA-US 5 10390504 10390504 single base substitution A C synonymous_variant A51A 153A>C BRCA-US 5 10394874 10394874 single base substitution C G downstream_gene_variant BRCA-US 5 10394874 10394874 single base substitution C G exon_variant BRCA-US 5 10394874 10394874 single base substitution C G missense_variant L175V 523C>G BRCA-US 5 10394874 10394874 single base substitution C G missense_variant L232V 694C>G BRCA-US 5 10394874 10394874 single base substitution C G missense_variant L280V 838C>G BRCA-US 5 10410284 10410284 single base substitution G A exon_variant BRCA-US 5 10410284 10410284 single base substitution G A synonymous_variant L227L 681G>A BRCA-US 5 10410284 10410284 single base substitution G A synonymous_variant L424L 1272G>A BRCA-US 5 10410284 10410284 single base substitution G A synonymous_variant L481L 1443G>A BRCA-US 5 10410284 10410284 single base substitution G A synonymous_variant L529L 1587G>A BRCA-US 5 10410284 10410284 single base substitution G A upstream_gene_variant BRCA-US 5 10430051 10430051 insertion of <=200bp - T exon_variant BRCA-US 5 10430051 10430051 insertion of <=200bp - T frameshift_variant P549P? BRCA-US 5 10430051 10430051 insertion of <=200bp - T frameshift_variant P746P? BRCA-US 5 10430051 10430051 insertion of <=200bp - T frameshift_variant P803P? BRCA-US 5 10430051 10430051 insertion of <=200bp - T frameshift_variant P851P? BRCA-US 5 10430051 10430051 insertion of <=200bp - T upstream_gene_variant BTCA-JP 5 10391718 10391718 single base substitution A G downstream_gene_variant BTCA-JP 5 10391718 10391718 single base substitution A G exon_variant BTCA-JP 5 10391718 10391718 single base substitution A G missense_variant E109G 326A>G BTCA-JP 5 10391718 10391718 single base substitution A G missense_variant E166G 497A>G BTCA-JP 5 10391718 10391718 single base substitution A G missense_variant E214G 641A>G BTCA-JP 5 10402152 10402152 single base substitution A C exon_variant BTCA-JP 5 10402152 10402152 single base substitution A C intron_variant BTCA-JP 5 10402152 10402152 single base substitution A C missense_variant L16F 48A>C BTCA-JP 5 10407072 10407072 single base substitution A G downstream_gene_variant BTCA-JP 5 10407072 10407072 single base substitution A G intron_variant BTCA-JP 5 10407072 10407072 single base substitution A G upstream_gene_variant BTCA-JP 5 10415853 10415853 single base substitution T G intron_variant BTCA-JP 5 10426507 10426507 single base substitution C T downstream_gene_variant BTCA-JP 5 10426507 10426507 single base substitution C T exon_variant BTCA-JP 5 10426507 10426507 single base substitution C T synonymous_variant Y491Y 1473C>T BTCA-JP 5 10426507 10426507 single base substitution C T synonymous_variant Y688Y 2064C>T BTCA-JP 5 10426507 10426507 single base substitution C T synonymous_variant Y745Y 2235C>T BTCA-JP 5 10426507 10426507 single base substitution C T synonymous_variant Y793Y 2379C>T BTCA-JP 5 10433774 10433774 single base substitution C T exon_variant BTCA-JP 5 10433774 10433774 single base substitution C T missense_variant P602L 1805C>T BTCA-JP 5 10433774 10433774 single base substitution C T missense_variant P799L 2396C>T BTCA-JP 5 10433774 10433774 single base substitution C T missense_variant P856L 2567C>T BTCA-JP 5 10433774 10433774 single base substitution C T missense_variant P904L 2711C>T BTCA-JP 5 10433774 10433774 single base substitution C T upstream_gene_variant CESC-US 5 10377945 10377945 single base substitution G A exon_variant CESC-US 5 10377945 10377945 single base substitution G A intron_variant CESC-US 5 10377945 10377945 single base substitution G A missense_variant E19K 55G>A CESC-US 5 10377945 10377945 single base substitution G C exon_variant CESC-US 5 10377945 10377945 single base substitution G C intron_variant CESC-US 5 10377945 10377945 single base substitution G C missense_variant E19Q 55G>C CESC-US 5 10394201 10394201 single base substitution G A downstream_gene_variant CESC-US 5 10394201 10394201 single base substitution G A exon_variant CESC-US 5 10394201 10394201 single base substitution G A missense_variant M153I 459G>A CESC-US 5 10394201 10394201 single base substitution G A missense_variant M210I 630G>A CESC-US 5 10394201 10394201 single base substitution G A missense_variant M258I 774G>A CESC-US 5 10415612 10415612 single base substitution G A exon_variant CESC-US 5 10415612 10415612 single base substitution G A missense_variant R358H 1073G>A CESC-US 5 10415612 10415612 single base substitution G A missense_variant R555H 1664G>A CESC-US 5 10415612 10415612 single base substitution G A missense_variant R612H 1835G>A CESC-US 5 10415612 10415612 single base substitution G A missense_variant R660H 1979G>A CESC-US 5 10415612 10415612 single base substitution G A upstream_gene_variant CESC-US 5 10417496 10417496 single base substitution C G exon_variant CESC-US 5 10417496 10417496 single base substitution C G missense_variant P453A 1357C>G CESC-US 5 10417496 10417496 single base substitution C G missense_variant P650A 1948C>G CESC-US 5 10417496 10417496 single base substitution C G missense_variant P707A 2119C>G CESC-US 5 10417496 10417496 single base substitution C G missense_variant P755A 2263C>G CLLE-ES 5 10369972 10369972 single base substitution A G intron_variant CLLE-ES 5 10385176 10385176 single base substitution T C intron_variant CLLE-ES 5 10385176 10385176 single base substitution T C upstream_gene_variant CLLE-ES 5 10389825 10389825 deletion of <=200bp T - intron_variant CLLE-ES 5 10396710 10396710 single base substitution G T intron_variant CLLE-ES 5 10396710 10396710 single base substitution G T upstream_gene_variant CLLE-ES 5 10405091 10405091 single base substitution T C downstream_gene_variant CLLE-ES 5 10405091 10405091 single base substitution T C intron_variant CLLE-ES 5 10415792 10415792 single base substitution G A intron_variant COAD-US 5 10378902 10378902 single base substitution G T exon_variant COAD-US 5 10378902 10378902 single base substitution G T intron_variant COAD-US 5 10378902 10378902 single base substitution G T stop_gained E50* 148G>T COAD-US 5 10378928 10378928 single base substitution A C exon_variant COAD-US 5 10378928 10378928 single base substitution A C intron_variant COAD-US 5 10378928 10378928 single base substitution A C missense_variant R58S 174A>C COAD-US 5 10391660 10391660 single base substitution G A 3_prime_UTR_variant COAD-US 5 10391660 10391660 single base substitution G A downstream_gene_variant COAD-US 5 10391660 10391660 single base substitution G A exon_variant COAD-US 5 10391660 10391660 single base substitution G A missense_variant A147T 439G>A COAD-US 5 10391660 10391660 single base substitution G A missense_variant A195T 583G>A COAD-US 5 10391660 10391660 single base substitution G A missense_variant A90T 268G>A COAD-US 5 10402702 10402702 single base substitution C T downstream_gene_variant COAD-US 5 10402702 10402702 single base substitution C T exon_variant COAD-US 5 10402702 10402702 single base substitution C T synonymous_variant L289L 865C>T COAD-US 5 10402702 10402702 single base substitution C T synonymous_variant L346L 1036C>T COAD-US 5 10402702 10402702 single base substitution C T synonymous_variant L394L 1180C>T COAD-US 5 10402702 10402702 single base substitution C T synonymous_variant L92L 274C>T COAD-US 5 10411625 10411625 single base substitution C T exon_variant COAD-US 5 10411625 10411625 single base substitution C T synonymous_variant R322R 966C>T COAD-US 5 10411625 10411625 single base substitution C T synonymous_variant R519R 1557C>T COAD-US 5 10411625 10411625 single base substitution C T synonymous_variant R576R 1728C>T COAD-US 5 10411625 10411625 single base substitution C T synonymous_variant R624R 1872C>T COAD-US 5 10411625 10411625 single base substitution C T upstream_gene_variant COCA-CN 5 10352445 10352445 single base substitution C G upstream_gene_variant COCA-CN 5 10386746 10386746 single base substitution G A intron_variant COCA-CN 5 10386746 10386746 single base substitution G A upstream_gene_variant COCA-CN 5 10391576 10391576 single base substitution T A downstream_gene_variant COCA-CN 5 10391576 10391576 single base substitution T A intron_variant COCA-CN 5 10400862 10400862 single base substitution C T intron_variant COCA-CN 5 10400862 10400862 single base substitution C T upstream_gene_variant COCA-CN 5 10407259 10407259 single base substitution C T downstream_gene_variant COCA-CN 5 10407259 10407259 single base substitution C T exon_variant COCA-CN 5 10407259 10407259 single base substitution C T missense_variant R198C 592C>T COCA-CN 5 10407259 10407259 single base substitution C T missense_variant R395C 1183C>T COCA-CN 5 10407259 10407259 single base substitution C T missense_variant R452C 1354C>T COCA-CN 5 10407259 10407259 single base substitution C T missense_variant R500C 1498C>T COCA-CN 5 10407259 10407259 single base substitution C T upstream_gene_variant COCA-CN 5 10408077 10408077 single base substitution C A intron_variant COCA-CN 5 10408077 10408077 single base substitution C A upstream_gene_variant COCA-CN 5 10410209 10410209 single base substitution T C intron_variant COCA-CN 5 10410209 10410209 single base substitution T C upstream_gene_variant COCA-CN 5 10410357 10410357 single base substitution C T exon_variant COCA-CN 5 10410357 10410357 single base substitution C T stop_gained R252* 754C>T COCA-CN 5 10410357 10410357 single base substitution C T stop_gained R449* 1345C>T COCA-CN 5 10410357 10410357 single base substitution C T stop_gained R506* 1516C>T COCA-CN 5 10410357 10410357 single base substitution C T stop_gained R554* 1660C>T COCA-CN 5 10410357 10410357 single base substitution C T upstream_gene_variant COCA-CN 5 10424022 10424022 single base substitution C T downstream_gene_variant COCA-CN 5 10424022 10424022 single base substitution C T intron_variant COCA-CN 5 10428540 10428540 single base substitution A G downstream_gene_variant COCA-CN 5 10428540 10428540 single base substitution A G intron_variant COCA-CN 5 10435430 10435430 single base substitution C T 3_prime_UTR_variant COCA-CN 5 10435430 10435430 single base substitution C T downstream_gene_variant COCA-CN 5 10435430 10435430 single base substitution C T intron_variant EOPC-DE 5 10354511 10354511 single base substitution C G intron_variant EOPC-DE 5 10354511 10354511 single base substitution C G upstream_gene_variant EOPC-DE 5 10362488 10362488 single base substitution C T intron_variant EOPC-DE 5 10384083 10384083 single base substitution A C intron_variant EOPC-DE 5 10384083 10384083 single base substitution A C upstream_gene_variant EOPC-DE 5 10397280 10397280 single base substitution A G intron_variant EOPC-DE 5 10397280 10397280 single base substitution A G upstream_gene_variant EOPC-DE 5 10408980 10408980 single base substitution C T intron_variant EOPC-DE 5 10408980 10408980 single base substitution C T upstream_gene_variant EOPC-DE 5 10437240 10437240 single base substitution G A 3_prime_UTR_variant EOPC-DE 5 10437240 10437240 single base substitution G A downstream_gene_variant EOPC-DE 5 10437240 10437240 single base substitution G A exon_variant EOPC-DE 5 10444935 10444935 single base substitution C T downstream_gene_variant ESAD-UK 5 10349909 10349909 single base substitution A G upstream_gene_variant ESAD-UK 5 10354485 10354485 single base substitution C G intron_variant ESAD-UK 5 10354485 10354485 single base substitution C G upstream_gene_variant ESAD-UK 5 10355563 10355563 single base substitution T G intron_variant ESAD-UK 5 10358630 10358630 single base substitution T C intron_variant ESAD-UK 5 10358736 10358736 single base substitution T G intron_variant ESAD-UK 5 10360623 10360623 single base substitution G A intron_variant ESAD-UK 5 10362000 10362000 single base substitution C T intron_variant ESAD-UK 5 10362707 10362707 single base substitution T C intron_variant ESAD-UK 5 10364150 10364150 single base substitution G A intron_variant ESAD-UK 5 10364906 10364906 single base substitution C A intron_variant ESAD-UK 5 10366937 10366937 single base substitution A G intron_variant ESAD-UK 5 10367868 10367868 single base substitution T C intron_variant ESAD-UK 5 10367875 10367875 insertion of <=200bp - T intron_variant ESAD-UK 5 10368801 10368801 single base substitution C T intron_variant ESAD-UK 5 10370513 10370513 single base substitution C T intron_variant ESAD-UK 5 10370585 10370585 single base substitution T C intron_variant ESAD-UK 5 10371295 10371295 single base substitution T G intron_variant ESAD-UK 5 10373180 10373180 single base substitution A C intron_variant ESAD-UK 5 10373577 10373577 single base substitution C T intron_variant ESAD-UK 5 10378889 10378890 deletion of <=200bp AC - exon_variant ESAD-UK 5 10378889 10378890 deletion of <=200bp AC - frameshift_variant KH45 ESAD-UK 5 10378889 10378890 deletion of <=200bp AC - intron_variant ESAD-UK 5 10382021 10382021 single base substitution C A exon_variant ESAD-UK 5 10382021 10382021 single base substitution C A intron_variant ESAD-UK 5 10382021 10382021 single base substitution C A synonymous_variant A100A 300C>A ESAD-UK 5 10384505 10384505 single base substitution T G intron_variant ESAD-UK 5 10384505 10384505 single base substitution T G upstream_gene_variant ESAD-UK 5 10389917 10389917 single base substitution C G intron_variant ESAD-UK 5 10390392 10390392 single base substitution C T intron_variant ESAD-UK 5 10390919 10390919 single base substitution C T downstream_gene_variant ESAD-UK 5 10390919 10390919 single base substitution C T intron_variant ESAD-UK 5 10391152 10391152 single base substitution G A downstream_gene_variant ESAD-UK 5 10391152 10391152 single base substitution G A intron_variant ESAD-UK 5 10391164 10391164 single base substitution G C downstream_gene_variant ESAD-UK 5 10391164 10391164 single base substitution G C intron_variant ESAD-UK 5 10393445 10393445 single base substitution C T downstream_gene_variant ESAD-UK 5 10393445 10393445 single base substitution C T intron_variant ESAD-UK 5 10395850 10395850 single base substitution T C downstream_gene_variant ESAD-UK 5 10395850 10395850 single base substitution T C intron_variant ESAD-UK 5 10399048 10399048 single base substitution T G intron_variant ESAD-UK 5 10399048 10399048 single base substitution T G upstream_gene_variant ESAD-UK 5 10401099 10401099 single base substitution A T exon_variant ESAD-UK 5 10401099 10401099 single base substitution A T intron_variant ESAD-UK 5 10401099 10401099 single base substitution A T upstream_gene_variant ESAD-UK 5 10403923 10403923 single base substitution C T downstream_gene_variant ESAD-UK 5 10403923 10403923 single base substitution C T intron_variant ESAD-UK 5 10404188 10404188 insertion of <=200bp - C downstream_gene_variant ESAD-UK 5 10404188 10404188 insertion of <=200bp - C intron_variant ESAD-UK 5 10404376 10404376 single base substitution C T downstream_gene_variant ESAD-UK 5 10404376 10404376 single base substitution C T intron_variant ESAD-UK 5 10408075 10408078 deletion of <=200bp CCCA - intron_variant ESAD-UK 5 10408075 10408078 deletion of <=200bp CCCA - upstream_gene_variant ESAD-UK 5 10412195 10412195 single base substitution A G intron_variant ESAD-UK 5 10412195 10412195 single base substitution A G upstream_gene_variant ESAD-UK 5 10415399 10415399 single base substitution T G intron_variant ESAD-UK 5 10415399 10415399 single base substitution T G upstream_gene_variant ESAD-UK 5 10416298 10416298 deletion of <=200bp A - intron_variant ESAD-UK 5 10419188 10419188 single base substitution G A downstream_gene_variant ESAD-UK 5 10419188 10419188 single base substitution G A intron_variant ESAD-UK 5 10422152 10422152 single base substitution C T downstream_gene_variant ESAD-UK 5 10422152 10422152 single base substitution C T intron_variant ESAD-UK 5 10427740 10427740 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 10427740 10427740 deletion of <=200bp A - intron_variant ESAD-UK 5 10427797 10427797 single base substitution T A downstream_gene_variant ESAD-UK 5 10427797 10427797 single base substitution T A intron_variant ESAD-UK 5 10428719 10428719 single base substitution G A downstream_gene_variant ESAD-UK 5 10428719 10428719 single base substitution G A intron_variant ESAD-UK 5 10429660 10429660 single base substitution C T intron_variant ESAD-UK 5 10429660 10429660 single base substitution C T upstream_gene_variant ESAD-UK 5 10431148 10431148 single base substitution T C intron_variant ESAD-UK 5 10431148 10431148 single base substitution T C upstream_gene_variant ESAD-UK 5 10431202 10431202 single base substitution T G intron_variant ESAD-UK 5 10431202 10431202 single base substitution T G upstream_gene_variant ESAD-UK 5 10434041 10434041 single base substitution A T 3_prime_UTR_variant ESAD-UK 5 10434041 10434041 single base substitution A T downstream_gene_variant ESAD-UK 5 10434041 10434041 single base substitution A T exon_variant ESAD-UK 5 10435288 10435288 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 10435288 10435288 single base substitution T G downstream_gene_variant ESAD-UK 5 10435288 10435288 single base substitution T G intron_variant ESAD-UK 5 10436194 10436194 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 10436194 10436194 single base substitution A G downstream_gene_variant ESAD-UK 5 10436194 10436194 single base substitution A G intron_variant ESAD-UK 5 10437534 10437534 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 10437534 10437534 single base substitution T C downstream_gene_variant ESAD-UK 5 10437534 10437534 single base substitution T C exon_variant ESAD-UK 5 10442348 10442348 single base substitution G C downstream_gene_variant ESAD-UK 5 10443303 10443303 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 10443334 10443334 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 10444970 10444970 single base substitution C A downstream_gene_variant ESAD-UK 5 10445373 10445373 single base substitution G A downstream_gene_variant ESCA-CN 5 10403715 10403715 single base substitution C T downstream_gene_variant ESCA-CN 5 10403715 10403715 single base substitution C T intron_variant ESCA-CN 5 10417575 10417575 single base substitution C G downstream_gene_variant ESCA-CN 5 10417575 10417575 single base substitution C G intron_variant ESCA-CN 5 10434600 10434600 single base substitution G C 3_prime_UTR_variant ESCA-CN 5 10434600 10434600 single base substitution G C downstream_gene_variant ESCA-CN 5 10434600 10434600 single base substitution G C intron_variant GBM-US 5 10387160 10387160 single base substitution C G exon_variant GBM-US 5 10387160 10387160 single base substitution C G intron_variant GBM-US 5 10387160 10387160 single base substitution C G missense_variant P130R 389C>G GBM-US 5 10387160 10387160 single base substitution C G missense_variant P25R 74C>G GBM-US 5 10387160 10387160 single base substitution C G missense_variant P82R 245C>G GBM-US 5 10394249 10394249 single base substitution G A downstream_gene_variant GBM-US 5 10394249 10394249 single base substitution G A exon_variant GBM-US 5 10394249 10394249 single base substitution G A stop_gained W169* 507G>A GBM-US 5 10394249 10394249 single base substitution G A stop_gained W226* 678G>A GBM-US 5 10394249 10394249 single base substitution G A stop_gained W274* 822G>A GBM-US 5 10423856 10423856 insertion of <=200bp - T downstream_gene_variant GBM-US 5 10423856 10423856 insertion of <=200bp - T exon_variant GBM-US 5 10423856 10423856 insertion of <=200bp - T frameshift_variant L463S? GBM-US 5 10423856 10423856 insertion of <=200bp - T frameshift_variant L660S? GBM-US 5 10423856 10423856 insertion of <=200bp - T frameshift_variant L717S? GBM-US 5 10423856 10423856 insertion of <=200bp - T frameshift_variant L765S? KIRC-US 5 10407230 10407230 single base substitution T C downstream_gene_variant KIRC-US 5 10407230 10407230 single base substitution T C exon_variant KIRC-US 5 10407230 10407230 single base substitution T C missense_variant I188T 563T>C KIRC-US 5 10407230 10407230 single base substitution T C missense_variant I385T 1154T>C KIRC-US 5 10407230 10407230 single base substitution T C missense_variant I442T 1325T>C KIRC-US 5 10407230 10407230 single base substitution T C missense_variant I490T 1469T>C KIRC-US 5 10407230 10407230 single base substitution T C upstream_gene_variant KIRC-US 5 10437892 10437892 deletion of <=200bp T - 3_prime_UTR_variant KIRC-US 5 10437892 10437892 deletion of <=200bp T - downstream_gene_variant KIRC-US 5 10437892 10437892 deletion of <=200bp T - exon_variant KIRP-US 5 10411600 10411600 single base substitution G A exon_variant KIRP-US 5 10411600 10411600 single base substitution G A missense_variant G314E 941G>A KIRP-US 5 10411600 10411600 single base substitution G A missense_variant G511E 1532G>A KIRP-US 5 10411600 10411600 single base substitution G A missense_variant G568E 1703G>A KIRP-US 5 10411600 10411600 single base substitution G A missense_variant G616E 1847G>A KIRP-US 5 10411600 10411600 single base substitution G A upstream_gene_variant LAML-KR 5 10360279 10360279 single base substitution G T intron_variant LAML-KR 5 10408077 10408077 single base substitution C A intron_variant LAML-KR 5 10408077 10408077 single base substitution C A upstream_gene_variant LGG-US 5 10426541 10426541 single base substitution A T downstream_gene_variant LGG-US 5 10426541 10426541 single base substitution A T exon_variant LGG-US 5 10426541 10426541 single base substitution A T missense_variant I503F 1507A>T LGG-US 5 10426541 10426541 single base substitution A T missense_variant I700F 2098A>T LGG-US 5 10426541 10426541 single base substitution A T missense_variant I757F 2269A>T LGG-US 5 10426541 10426541 single base substitution A T missense_variant I805F 2413A>T LICA-FR 5 10357326 10357328 deletion of <=200bp TTT - intron_variant LICA-FR 5 10357454 10357454 single base substitution A G intron_variant LICA-FR 5 10380268 10380268 insertion of <=200bp - TG intron_variant LICA-FR 5 10381039 10381039 deletion of <=200bp A - intron_variant LICA-FR 5 10393356 10393356 single base substitution T A downstream_gene_variant LICA-FR 5 10393356 10393356 single base substitution T A intron_variant LICA-FR 5 10411643 10411643 single base substitution A T exon_variant LICA-FR 5 10411643 10411643 single base substitution A T synonymous_variant P328P 984A>T LICA-FR 5 10411643 10411643 single base substitution A T synonymous_variant P525P 1575A>T LICA-FR 5 10411643 10411643 single base substitution A T synonymous_variant P582P 1746A>T LICA-FR 5 10411643 10411643 single base substitution A T synonymous_variant P630P 1890A>T LICA-FR 5 10411643 10411643 single base substitution A T upstream_gene_variant LICA-FR 5 10439209 10439209 single base substitution T C 3_prime_UTR_variant LICA-FR 5 10439209 10439209 single base substitution T C downstream_gene_variant LIHC-US 5 10391780 10391780 single base substitution G C downstream_gene_variant LIHC-US 5 10391780 10391780 single base substitution G C exon_variant LIHC-US 5 10391780 10391780 single base substitution G C missense_variant D130H 388G>C LIHC-US 5 10391780 10391780 single base substitution G C missense_variant D187H 559G>C LIHC-US 5 10391780 10391780 single base substitution G C missense_variant D235H 703G>C LIHC-US 5 10403536 10403536 single base substitution T A downstream_gene_variant LIHC-US 5 10403536 10403536 single base substitution T A exon_variant LIHC-US 5 10403536 10403536 single base substitution T A synonymous_variant T103T 309T>A LIHC-US 5 10403536 10403536 single base substitution T A synonymous_variant T300T 900T>A LIHC-US 5 10403536 10403536 single base substitution T A synonymous_variant T357T 1071T>A LIHC-US 5 10403536 10403536 single base substitution T A synonymous_variant T405T 1215T>A LIHC-US 5 10403615 10403615 single base substitution G T downstream_gene_variant LIHC-US 5 10403615 10403615 single base substitution G T exon_variant LIHC-US 5 10403615 10403615 single base substitution G T missense_variant V130F 388G>T LIHC-US 5 10403615 10403615 single base substitution G T missense_variant V327F 979G>T LIHC-US 5 10403615 10403615 single base substitution G T missense_variant V384F 1150G>T LIHC-US 5 10403615 10403615 single base substitution G T missense_variant V432F 1294G>T LIHC-US 5 10415698 10415698 single base substitution A G exon_variant LIHC-US 5 10415698 10415698 single base substitution A G missense_variant I387V 1159A>G LIHC-US 5 10415698 10415698 single base substitution A G missense_variant I584V 1750A>G LIHC-US 5 10415698 10415698 single base substitution A G missense_variant I641V 1921A>G LIHC-US 5 10415698 10415698 single base substitution A G missense_variant I689V 2065A>G LIHC-US 5 10415698 10415698 single base substitution A G upstream_gene_variant LINC-JP 5 10352646 10352646 single base substitution G A upstream_gene_variant LINC-JP 5 10363807 10363807 single base substitution A G intron_variant LINC-JP 5 10367883 10367883 single base substitution A C intron_variant LINC-JP 5 10369558 10369558 single base substitution C T intron_variant LINC-JP 5 10373661 10373661 single base substitution T C intron_variant LINC-JP 5 10379204 10379204 single base substitution A G intron_variant LINC-JP 5 10379821 10379821 single base substitution C A intron_variant LINC-JP 5 10383422 10383422 single base substitution A G intron_variant LINC-JP 5 10383422 10383422 single base substitution A G upstream_gene_variant LINC-JP 5 10392583 10392583 single base substitution C T downstream_gene_variant LINC-JP 5 10392583 10392583 single base substitution C T intron_variant LINC-JP 5 10394700 10394700 single base substitution A G downstream_gene_variant LINC-JP 5 10394700 10394700 single base substitution A G intron_variant LINC-JP 5 10397675 10397675 single base substitution T A intron_variant LINC-JP 5 10397675 10397675 single base substitution T A upstream_gene_variant LINC-JP 5 10400904 10400904 single base substitution C A exon_variant LINC-JP 5 10400904 10400904 single base substitution C A missense_variant P203T 607C>A LINC-JP 5 10400904 10400904 single base substitution C A missense_variant P260T 778C>A LINC-JP 5 10400904 10400904 single base substitution C A missense_variant P308T 922C>A LINC-JP 5 10400904 10400904 single base substitution C A upstream_gene_variant LINC-JP 5 10402288 10402288 single base substitution A G intron_variant LINC-JP 5 10402400 10402400 single base substitution A G intron_variant LINC-JP 5 10405429 10405429 insertion of <=200bp - T downstream_gene_variant LINC-JP 5 10405429 10405429 insertion of <=200bp - T intron_variant LINC-JP 5 10405429 10405429 insertion of <=200bp - T upstream_gene_variant LINC-JP 5 10405683 10405683 single base substitution G A downstream_gene_variant LINC-JP 5 10405683 10405683 single base substitution G A exon_variant LINC-JP 5 10405683 10405683 single base substitution G A missense_variant G147D 440G>A LINC-JP 5 10405683 10405683 single base substitution G A missense_variant G344D 1031G>A LINC-JP 5 10405683 10405683 single base substitution G A missense_variant G401D 1202G>A LINC-JP 5 10405683 10405683 single base substitution G A missense_variant G449D 1346G>A LINC-JP 5 10405683 10405683 single base substitution G A upstream_gene_variant LINC-JP 5 10408077 10408077 single base substitution C A intron_variant LINC-JP 5 10408077 10408077 single base substitution C A upstream_gene_variant LINC-JP 5 10414659 10414659 single base substitution A G intron_variant LINC-JP 5 10414659 10414659 single base substitution A G upstream_gene_variant LINC-JP 5 10415601 10415601 single base substitution A G exon_variant LINC-JP 5 10415601 10415601 single base substitution A G splice_region_variant LINC-JP 5 10415601 10415601 single base substitution A G upstream_gene_variant LINC-JP 5 10415612 10415612 single base substitution G A exon_variant LINC-JP 5 10415612 10415612 single base substitution G A missense_variant R358H 1073G>A LINC-JP 5 10415612 10415612 single base substitution G A missense_variant R555H 1664G>A LINC-JP 5 10415612 10415612 single base substitution G A missense_variant R612H 1835G>A LINC-JP 5 10415612 10415612 single base substitution G A missense_variant R660H 1979G>A LINC-JP 5 10415612 10415612 single base substitution G A upstream_gene_variant LINC-JP 5 10417603 10417603 single base substitution A T downstream_gene_variant LINC-JP 5 10417603 10417603 single base substitution A T intron_variant LINC-JP 5 10423831 10423831 single base substitution G T downstream_gene_variant LINC-JP 5 10423831 10423831 single base substitution G T intron_variant LINC-JP 5 10426298 10426298 single base substitution A G downstream_gene_variant LINC-JP 5 10426298 10426298 single base substitution A G intron_variant LINC-JP 5 10429961 10429961 single base substitution G A intron_variant LINC-JP 5 10429961 10429961 single base substitution G A upstream_gene_variant LINC-JP 5 10437112 10437112 single base substitution C T 3_prime_UTR_variant LINC-JP 5 10437112 10437112 single base substitution C T downstream_gene_variant LINC-JP 5 10437112 10437112 single base substitution C T exon_variant LINC-JP 5 10438967 10438967 single base substitution T C 3_prime_UTR_variant LINC-JP 5 10438967 10438967 single base substitution T C downstream_gene_variant LINC-JP 5 10440358 10440358 single base substitution C T 3_prime_UTR_variant LINC-JP 5 10440358 10440358 single base substitution C T downstream_gene_variant LINC-JP 5 10442104 10442104 single base substitution G T downstream_gene_variant LIRI-JP 5 10349249 10349256 deletion of <=200bp AAGTCTCC - upstream_gene_variant LIRI-JP 5 10349251 10349251 single base substitution G T upstream_gene_variant LIRI-JP 5 10351654 10351654 single base substitution C A upstream_gene_variant LIRI-JP 5 10351892 10351892 single base substitution A G upstream_gene_variant LIRI-JP 5 10352318 10352318 single base substitution T G upstream_gene_variant LIRI-JP 5 10355401 10355401 deletion of <=200bp T - intron_variant LIRI-JP 5 10355521 10355521 single base substitution A G intron_variant LIRI-JP 5 10355641 10355641 single base substitution A G intron_variant LIRI-JP 5 10356947 10356947 single base substitution A G intron_variant LIRI-JP 5 10357043 10357043 single base substitution C A intron_variant LIRI-JP 5 10357044 10357044 single base substitution T A intron_variant LIRI-JP 5 10357410 10357410 single base substitution A G intron_variant LIRI-JP 5 10357543 10357543 single base substitution A C intron_variant LIRI-JP 5 10358215 10358215 single base substitution A C intron_variant LIRI-JP 5 10358316 10358316 single base substitution A G intron_variant LIRI-JP 5 10360196 10360196 single base substitution T C intron_variant LIRI-JP 5 10361586 10361586 single base substitution T G intron_variant LIRI-JP 5 10362307 10362307 single base substitution A G intron_variant LIRI-JP 5 10362938 10362938 single base substitution T A intron_variant LIRI-JP 5 10364324 10364324 single base substitution C T intron_variant LIRI-JP 5 10364648 10364648 single base substitution A G intron_variant LIRI-JP 5 10364751 10364751 single base substitution A G intron_variant LIRI-JP 5 10365776 10365776 single base substitution G A intron_variant LIRI-JP 5 10366373 10366373 single base substitution A G intron_variant LIRI-JP 5 10367263 10367263 single base substitution A G intron_variant LIRI-JP 5 10367720 10367720 single base substitution C G intron_variant LIRI-JP 5 10370367 10370367 single base substitution C T intron_variant LIRI-JP 5 10373948 10373948 single base substitution T G intron_variant LIRI-JP 5 10374596 10374596 single base substitution T G intron_variant LIRI-JP 5 10377394 10377394 single base substitution G A intron_variant LIRI-JP 5 10377653 10377653 single base substitution A G intron_variant LIRI-JP 5 10380450 10380450 single base substitution T C intron_variant LIRI-JP 5 10381627 10381627 single base substitution C T intron_variant LIRI-JP 5 10383971 10383971 single base substitution G A intron_variant LIRI-JP 5 10383971 10383971 single base substitution G A upstream_gene_variant LIRI-JP 5 10384807 10384807 single base substitution G T intron_variant LIRI-JP 5 10384807 10384807 single base substitution G T upstream_gene_variant LIRI-JP 5 10384884 10384884 single base substitution A G intron_variant LIRI-JP 5 10384884 10384884 single base substitution A G upstream_gene_variant LIRI-JP 5 10386419 10386419 single base substitution A G intron_variant LIRI-JP 5 10386419 10386419 single base substitution A G upstream_gene_variant LIRI-JP 5 10386724 10386724 single base substitution C G intron_variant LIRI-JP 5 10386724 10386724 single base substitution C G upstream_gene_variant LIRI-JP 5 10387300 10387300 single base substitution A G intron_variant LIRI-JP 5 10389312 10389312 single base substitution A G intron_variant LIRI-JP 5 10389540 10389540 single base substitution A G intron_variant LIRI-JP 5 10389732 10389732 single base substitution C G intron_variant LIRI-JP 5 10391627 10391627 single base substitution A C downstream_gene_variant LIRI-JP 5 10391627 10391627 single base substitution A C intron_variant LIRI-JP 5 10393056 10393056 single base substitution A C downstream_gene_variant LIRI-JP 5 10393056 10393056 single base substitution A C intron_variant LIRI-JP 5 10393159 10393159 single base substitution A G downstream_gene_variant LIRI-JP 5 10393159 10393159 single base substitution A G intron_variant LIRI-JP 5 10396116 10396116 single base substitution A G downstream_gene_variant LIRI-JP 5 10396116 10396116 single base substitution A G intron_variant LIRI-JP 5 10396116 10396116 single base substitution A G upstream_gene_variant LIRI-JP 5 10401085 10401085 single base substitution T A exon_variant LIRI-JP 5 10401085 10401085 single base substitution T A intron_variant LIRI-JP 5 10401085 10401085 single base substitution T A upstream_gene_variant LIRI-JP 5 10401535 10401535 single base substitution G T exon_variant LIRI-JP 5 10401535 10401535 single base substitution G T intron_variant LIRI-JP 5 10401535 10401535 single base substitution G T upstream_gene_variant LIRI-JP 5 10403509 10403509 single base substitution T G downstream_gene_variant LIRI-JP 5 10403509 10403509 single base substitution T G intron_variant LIRI-JP 5 10403582 10403582 single base substitution A G downstream_gene_variant LIRI-JP 5 10403582 10403582 single base substitution A G exon_variant LIRI-JP 5 10403582 10403582 single base substitution A G missense_variant M119V 355A>G LIRI-JP 5 10403582 10403582 single base substitution A G missense_variant M316V 946A>G LIRI-JP 5 10403582 10403582 single base substitution A G missense_variant M373V 1117A>G LIRI-JP 5 10403582 10403582 single base substitution A G missense_variant M421V 1261A>G LIRI-JP 5 10403767 10403767 single base substitution T C downstream_gene_variant LIRI-JP 5 10403767 10403767 single base substitution T C intron_variant LIRI-JP 5 10405573 10405573 single base substitution A G downstream_gene_variant LIRI-JP 5 10405573 10405573 single base substitution A G intron_variant LIRI-JP 5 10405573 10405573 single base substitution A G upstream_gene_variant LIRI-JP 5 10406429 10406429 single base substitution A G downstream_gene_variant LIRI-JP 5 10406429 10406429 single base substitution A G intron_variant LIRI-JP 5 10406429 10406429 single base substitution A G upstream_gene_variant LIRI-JP 5 10407219 10407219 single base substitution C G downstream_gene_variant LIRI-JP 5 10407219 10407219 single base substitution C G exon_variant LIRI-JP 5 10407219 10407219 single base substitution C G synonymous_variant V184V 552C>G LIRI-JP 5 10407219 10407219 single base substitution C G synonymous_variant V381V 1143C>G LIRI-JP 5 10407219 10407219 single base substitution C G synonymous_variant V438V 1314C>G LIRI-JP 5 10407219 10407219 single base substitution C G synonymous_variant V486V 1458C>G LIRI-JP 5 10407219 10407219 single base substitution C G upstream_gene_variant LIRI-JP 5 10407423 10407423 single base substitution C T downstream_gene_variant LIRI-JP 5 10407423 10407423 single base substitution C T intron_variant LIRI-JP 5 10407423 10407423 single base substitution C T upstream_gene_variant LIRI-JP 5 10411754 10411754 single base substitution G A intron_variant LIRI-JP 5 10411754 10411754 single base substitution G A upstream_gene_variant LIRI-JP 5 10415647 10415647 single base substitution A C exon_variant LIRI-JP 5 10415647 10415647 single base substitution A C missense_variant I370L 1108A>C LIRI-JP 5 10415647 10415647 single base substitution A C missense_variant I567L 1699A>C LIRI-JP 5 10415647 10415647 single base substitution A C missense_variant I624L 1870A>C LIRI-JP 5 10415647 10415647 single base substitution A C missense_variant I672L 2014A>C LIRI-JP 5 10415647 10415647 single base substitution A C upstream_gene_variant LIRI-JP 5 10415669 10415669 single base substitution C G exon_variant LIRI-JP 5 10415669 10415669 single base substitution C G missense_variant A377G 1130C>G LIRI-JP 5 10415669 10415669 single base substitution C G missense_variant A574G 1721C>G LIRI-JP 5 10415669 10415669 single base substitution C G missense_variant A631G 1892C>G LIRI-JP 5 10415669 10415669 single base substitution C G missense_variant A679G 2036C>G LIRI-JP 5 10415669 10415669 single base substitution C G upstream_gene_variant LIRI-JP 5 10416257 10416257 single base substitution A G intron_variant LIRI-JP 5 10417077 10417077 single base substitution C A intron_variant LIRI-JP 5 10420311 10420311 single base substitution A G downstream_gene_variant LIRI-JP 5 10420311 10420311 single base substitution A G intron_variant LIRI-JP 5 10420369 10420369 single base substitution G T downstream_gene_variant LIRI-JP 5 10420369 10420369 single base substitution G T intron_variant LIRI-JP 5 10423353 10423353 single base substitution G T downstream_gene_variant LIRI-JP 5 10423353 10423353 single base substitution G T intron_variant LIRI-JP 5 10423386 10423393 deletion of <=200bp CAGTTCCC - downstream_gene_variant LIRI-JP 5 10423386 10423393 deletion of <=200bp CAGTTCCC - intron_variant LIRI-JP 5 10424383 10424383 single base substitution A G downstream_gene_variant LIRI-JP 5 10424383 10424383 single base substitution A G intron_variant LIRI-JP 5 10426666 10426666 single base substitution A G downstream_gene_variant LIRI-JP 5 10426666 10426666 single base substitution A G intron_variant LIRI-JP 5 10427652 10427652 single base substitution C G downstream_gene_variant LIRI-JP 5 10427652 10427652 single base substitution C G intron_variant LIRI-JP 5 10431108 10431108 single base substitution T G intron_variant LIRI-JP 5 10431108 10431108 single base substitution T G upstream_gene_variant LIRI-JP 5 10432532 10432532 single base substitution A G intron_variant LIRI-JP 5 10432532 10432532 single base substitution A G upstream_gene_variant LIRI-JP 5 10436002 10436002 single base substitution T G 3_prime_UTR_variant LIRI-JP 5 10436002 10436002 single base substitution T G downstream_gene_variant LIRI-JP 5 10436002 10436002 single base substitution T G intron_variant LIRI-JP 5 10437829 10437829 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 10437829 10437829 single base substitution A G downstream_gene_variant LIRI-JP 5 10437829 10437829 single base substitution A G exon_variant LIRI-JP 5 10439697 10439697 single base substitution T G 3_prime_UTR_variant LIRI-JP 5 10439697 10439697 single base substitution T G downstream_gene_variant LIRI-JP 5 10439749 10439749 single base substitution C G 3_prime_UTR_variant LIRI-JP 5 10439749 10439749 single base substitution C G downstream_gene_variant LIRI-JP 5 10440788 10440788 single base substitution G C downstream_gene_variant LIRI-JP 5 10441184 10441184 single base substitution C A downstream_gene_variant LIRI-JP 5 10443369 10443370 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 5 10444506 10444506 single base substitution G A downstream_gene_variant LUSC-KR 5 10349810 10349810 single base substitution T A upstream_gene_variant LUSC-KR 5 10354338 10354338 single base substitution G T intron_variant LUSC-KR 5 10354338 10354338 single base substitution G T upstream_gene_variant LUSC-KR 5 10364013 10364013 single base substitution A G intron_variant LUSC-KR 5 10368183 10368183 single base substitution T G intron_variant LUSC-KR 5 10374834 10374834 single base substitution G T intron_variant LUSC-KR 5 10375099 10375099 single base substitution C A intron_variant LUSC-KR 5 10377533 10377533 single base substitution C T intron_variant LUSC-KR 5 10378809 10378809 single base substitution G T intron_variant LUSC-KR 5 10379634 10379634 single base substitution G T intron_variant LUSC-KR 5 10379899 10379899 single base substitution A T intron_variant LUSC-KR 5 10380430 10380430 single base substitution A G intron_variant LUSC-KR 5 10389158 10389158 single base substitution A T intron_variant LUSC-KR 5 10390753 10390753 single base substitution G T downstream_gene_variant LUSC-KR 5 10390753 10390753 single base substitution G T intron_variant LUSC-KR 5 10393812 10393812 single base substitution G T downstream_gene_variant LUSC-KR 5 10393812 10393812 single base substitution G T intron_variant LUSC-KR 5 10400378 10400378 single base substitution C T intron_variant LUSC-KR 5 10400378 10400378 single base substitution C T upstream_gene_variant LUSC-KR 5 10401099 10401099 single base substitution A T exon_variant LUSC-KR 5 10401099 10401099 single base substitution A T intron_variant LUSC-KR 5 10401099 10401099 single base substitution A T upstream_gene_variant LUSC-KR 5 10401705 10401705 single base substitution A G exon_variant LUSC-KR 5 10401705 10401705 single base substitution A G intron_variant LUSC-KR 5 10401705 10401705 single base substitution A G upstream_gene_variant LUSC-KR 5 10404964 10404964 single base substitution A G downstream_gene_variant LUSC-KR 5 10404964 10404964 single base substitution A G intron_variant LUSC-KR 5 10406362 10406362 single base substitution A G downstream_gene_variant LUSC-KR 5 10406362 10406362 single base substitution A G intron_variant LUSC-KR 5 10406362 10406362 single base substitution A G upstream_gene_variant LUSC-KR 5 10408077 10408077 single base substitution C A intron_variant LUSC-KR 5 10408077 10408077 single base substitution C A upstream_gene_variant LUSC-KR 5 10408630 10408630 single base substitution A T intron_variant LUSC-KR 5 10408630 10408630 single base substitution A T upstream_gene_variant LUSC-KR 5 10411614 10411614 single base substitution C T exon_variant LUSC-KR 5 10411614 10411614 single base substitution C T stop_gained Q319* 955C>T LUSC-KR 5 10411614 10411614 single base substitution C T stop_gained Q516* 1546C>T LUSC-KR 5 10411614 10411614 single base substitution C T stop_gained Q573* 1717C>T LUSC-KR 5 10411614 10411614 single base substitution C T stop_gained Q621* 1861C>T LUSC-KR 5 10411614 10411614 single base substitution C T upstream_gene_variant LUSC-KR 5 10419864 10419864 single base substitution G T downstream_gene_variant LUSC-KR 5 10419864 10419864 single base substitution G T intron_variant LUSC-KR 5 10424894 10424894 single base substitution G T downstream_gene_variant LUSC-KR 5 10424894 10424894 single base substitution G T intron_variant LUSC-KR 5 10430638 10430638 single base substitution G T intron_variant LUSC-KR 5 10430638 10430638 single base substitution G T upstream_gene_variant LUSC-KR 5 10431705 10431705 single base substitution G A intron_variant LUSC-KR 5 10431705 10431705 single base substitution G A upstream_gene_variant LUSC-KR 5 10434244 10434244 single base substitution C G 3_prime_UTR_variant LUSC-KR 5 10434244 10434244 single base substitution C G downstream_gene_variant LUSC-KR 5 10434244 10434244 single base substitution C G exon_variant LUSC-KR 5 10443093 10443093 single base substitution G C downstream_gene_variant LUSC-KR 5 10444599 10444599 single base substitution C T downstream_gene_variant LUSC-KR 5 10445131 10445131 single base substitution G T downstream_gene_variant LUSC-US 5 10382034 10382034 single base substitution G T exon_variant LUSC-US 5 10382034 10382034 single base substitution G T intron_variant LUSC-US 5 10382034 10382034 single base substitution G T stop_gained G105* 313G>T LUSC-US 5 10390501 10390501 single base substitution T C 3_prime_UTR_variant LUSC-US 5 10390501 10390501 single base substitution T C exon_variant LUSC-US 5 10390501 10390501 single base substitution T C synonymous_variant C107C 321T>C LUSC-US 5 10390501 10390501 single base substitution T C synonymous_variant C155C 465T>C LUSC-US 5 10390501 10390501 single base substitution T C synonymous_variant C50C 150T>C LUSC-US 5 10391811 10391811 single base substitution A G downstream_gene_variant LUSC-US 5 10391811 10391811 single base substitution A G exon_variant LUSC-US 5 10391811 10391811 single base substitution A G missense_variant E140G 419A>G LUSC-US 5 10391811 10391811 single base substitution A G missense_variant E197G 590A>G LUSC-US 5 10391811 10391811 single base substitution A G missense_variant E245G 734A>G LUSC-US 5 10402206 10402206 single base substitution C T exon_variant LUSC-US 5 10402206 10402206 single base substitution C T synonymous_variant T231T 693C>T LUSC-US 5 10402206 10402206 single base substitution C T synonymous_variant T288T 864C>T LUSC-US 5 10402206 10402206 single base substitution C T synonymous_variant T336T 1008C>T LUSC-US 5 10402206 10402206 single base substitution C T synonymous_variant T34T 102C>T LUSC-US 5 10402650 10402650 single base substitution T C downstream_gene_variant LUSC-US 5 10402650 10402650 single base substitution T C exon_variant LUSC-US 5 10402650 10402650 single base substitution T C synonymous_variant S271S 813T>C LUSC-US 5 10402650 10402650 single base substitution T C synonymous_variant S328S 984T>C LUSC-US 5 10402650 10402650 single base substitution T C synonymous_variant S376S 1128T>C LUSC-US 5 10402650 10402650 single base substitution T C synonymous_variant S74S 222T>C LUSC-US 5 10403543 10403543 single base substitution G C downstream_gene_variant LUSC-US 5 10403543 10403543 single base substitution G C exon_variant LUSC-US 5 10403543 10403543 single base substitution G C missense_variant D106H 316G>C LUSC-US 5 10403543 10403543 single base substitution G C missense_variant D303H 907G>C LUSC-US 5 10403543 10403543 single base substitution G C missense_variant D360H 1078G>C LUSC-US 5 10403543 10403543 single base substitution G C missense_variant D408H 1222G>C LUSC-US 5 10405729 10405729 single base substitution A T downstream_gene_variant LUSC-US 5 10405729 10405729 single base substitution A T exon_variant LUSC-US 5 10405729 10405729 single base substitution A T synonymous_variant P162P 486A>T LUSC-US 5 10405729 10405729 single base substitution A T synonymous_variant P359P 1077A>T LUSC-US 5 10405729 10405729 single base substitution A T synonymous_variant P416P 1248A>T LUSC-US 5 10405729 10405729 single base substitution A T synonymous_variant P464P 1392A>T LUSC-US 5 10405729 10405729 single base substitution A T upstream_gene_variant LUSC-US 5 10405769 10405769 single base substitution C T downstream_gene_variant LUSC-US 5 10405769 10405769 single base substitution C T exon_variant LUSC-US 5 10405769 10405769 single base substitution C T stop_gained R176* 526C>T LUSC-US 5 10405769 10405769 single base substitution C T stop_gained R373* 1117C>T LUSC-US 5 10405769 10405769 single base substitution C T stop_gained R430* 1288C>T LUSC-US 5 10405769 10405769 single base substitution C T stop_gained R478* 1432C>T LUSC-US 5 10405769 10405769 single base substitution C T upstream_gene_variant LUSC-US 5 10410360 10410360 single base substitution G T exon_variant LUSC-US 5 10410360 10410360 single base substitution G T missense_variant A253S 757G>T LUSC-US 5 10410360 10410360 single base substitution G T missense_variant A450S 1348G>T LUSC-US 5 10410360 10410360 single base substitution G T missense_variant A507S 1519G>T LUSC-US 5 10410360 10410360 single base substitution G T missense_variant A555S 1663G>T LUSC-US 5 10410360 10410360 single base substitution G T upstream_gene_variant LUSC-US 5 10410379 10410379 single base substitution G C exon_variant LUSC-US 5 10410379 10410379 single base substitution G C missense_variant G259A 776G>C LUSC-US 5 10410379 10410379 single base substitution G C missense_variant G456A 1367G>C LUSC-US 5 10410379 10410379 single base substitution G C missense_variant G513A 1538G>C LUSC-US 5 10410379 10410379 single base substitution G C missense_variant G561A 1682G>C LUSC-US 5 10410379 10410379 single base substitution G C upstream_gene_variant LUSC-US 5 10411539 10411539 single base substitution G A exon_variant LUSC-US 5 10411539 10411539 single base substitution G A missense_variant A294T 880G>A LUSC-US 5 10411539 10411539 single base substitution G A missense_variant A491T 1471G>A LUSC-US 5 10411539 10411539 single base substitution G A missense_variant A548T 1642G>A LUSC-US 5 10411539 10411539 single base substitution G A missense_variant A596T 1786G>A LUSC-US 5 10411539 10411539 single base substitution G A upstream_gene_variant LUSC-US 5 10411627 10411627 single base substitution G T exon_variant LUSC-US 5 10411627 10411627 single base substitution G T missense_variant R323L 968G>T LUSC-US 5 10411627 10411627 single base substitution G T missense_variant R520L 1559G>T LUSC-US 5 10411627 10411627 single base substitution G T missense_variant R577L 1730G>T LUSC-US 5 10411627 10411627 single base substitution G T missense_variant R625L 1874G>T LUSC-US 5 10411627 10411627 single base substitution G T upstream_gene_variant LUSC-US 5 10414598 10414598 single base substitution C T exon_variant LUSC-US 5 10414598 10414598 single base substitution C T synonymous_variant I348I 1044C>T LUSC-US 5 10414598 10414598 single base substitution C T synonymous_variant I545I 1635C>T LUSC-US 5 10414598 10414598 single base substitution C T synonymous_variant I602I 1806C>T LUSC-US 5 10414598 10414598 single base substitution C T synonymous_variant I650I 1950C>T LUSC-US 5 10414598 10414598 single base substitution C T upstream_gene_variant LUSC-US 5 10417441 10417441 single base substitution G C exon_variant LUSC-US 5 10417441 10417441 single base substitution G C synonymous_variant G434G 1302G>C LUSC-US 5 10417441 10417441 single base substitution G C synonymous_variant G631G 1893G>C LUSC-US 5 10417441 10417441 single base substitution G C synonymous_variant G688G 2064G>C LUSC-US 5 10417441 10417441 single base substitution G C synonymous_variant G736G 2208G>C LUSC-US 5 10426588 10426588 single base substitution C T downstream_gene_variant LUSC-US 5 10426588 10426588 single base substitution C T exon_variant LUSC-US 5 10426588 10426588 single base substitution C T synonymous_variant S518S 1554C>T LUSC-US 5 10426588 10426588 single base substitution C T synonymous_variant S715S 2145C>T LUSC-US 5 10426588 10426588 single base substitution C T synonymous_variant S772S 2316C>T LUSC-US 5 10426588 10426588 single base substitution C T synonymous_variant S820S 2460C>T MALY-DE 5 10357696 10357696 single base substitution T G intron_variant MALY-DE 5 10365749 10365749 single base substitution A C intron_variant MALY-DE 5 10371561 10371561 single base substitution A G intron_variant MALY-DE 5 10372234 10372234 single base substitution T G intron_variant MALY-DE 5 10372265 10372265 single base substitution T G intron_variant MALY-DE 5 10372273 10372273 single base substitution T A intron_variant MALY-DE 5 10372388 10372388 single base substitution T G intron_variant MALY-DE 5 10377856 10377856 single base substitution T A intron_variant MALY-DE 5 10386125 10386125 single base substitution T C intron_variant MALY-DE 5 10386125 10386125 single base substitution T C upstream_gene_variant MALY-DE 5 10387667 10387667 single base substitution G A intron_variant MALY-DE 5 10391455 10391455 single base substitution G A downstream_gene_variant MALY-DE 5 10391455 10391455 single base substitution G A intron_variant MALY-DE 5 10400779 10400779 single base substitution A G intron_variant MALY-DE 5 10400779 10400779 single base substitution A G upstream_gene_variant MALY-DE 5 10402878 10402878 single base substitution G A downstream_gene_variant MALY-DE 5 10402878 10402878 single base substitution G A intron_variant MALY-DE 5 10404184 10404184 single base substitution T C downstream_gene_variant MALY-DE 5 10404184 10404184 single base substitution T C intron_variant MALY-DE 5 10405597 10405597 single base substitution G T downstream_gene_variant MALY-DE 5 10405597 10405597 single base substitution G T intron_variant MALY-DE 5 10405597 10405597 single base substitution G T upstream_gene_variant MALY-DE 5 10412230 10412230 single base substitution G C intron_variant MALY-DE 5 10412230 10412230 single base substitution G C upstream_gene_variant MALY-DE 5 10420594 10420594 single base substitution C A downstream_gene_variant MALY-DE 5 10420594 10420594 single base substitution C A intron_variant MALY-DE 5 10433069 10433069 single base substitution C T intron_variant MALY-DE 5 10433069 10433069 single base substitution C T upstream_gene_variant MALY-DE 5 10433874 10433874 single base substitution G A 3_prime_UTR_variant MALY-DE 5 10433874 10433874 single base substitution G A downstream_gene_variant MALY-DE 5 10433874 10433874 single base substitution G A exon_variant MALY-DE 5 10433874 10433874 single base substitution G A upstream_gene_variant MALY-DE 5 10437434 10437434 single base substitution A C 3_prime_UTR_variant MALY-DE 5 10437434 10437434 single base substitution A C downstream_gene_variant MALY-DE 5 10437434 10437434 single base substitution A C exon_variant MALY-DE 5 10443824 10443824 single base substitution T G downstream_gene_variant MELA-AU 5 10349268 10349268 single base substitution G A upstream_gene_variant MELA-AU 5 10350076 10350077 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 10350570 10350570 single base substitution G A upstream_gene_variant MELA-AU 5 10350831 10350831 single base substitution G A upstream_gene_variant MELA-AU 5 10351532 10351532 single base substitution C T upstream_gene_variant MELA-AU 5 10351723 10351723 single base substitution G A upstream_gene_variant MELA-AU 5 10351890 10351890 single base substitution C A upstream_gene_variant MELA-AU 5 10352543 10352543 single base substitution T G upstream_gene_variant MELA-AU 5 10352610 10352610 single base substitution G A upstream_gene_variant MELA-AU 5 10353165 10353165 single base substitution C T upstream_gene_variant MELA-AU 5 10353767 10353767 single base substitution C T upstream_gene_variant MELA-AU 5 10353948 10353948 single base substitution C T 5_prime_UTR_variant MELA-AU 5 10353948 10353948 single base substitution C T exon_variant MELA-AU 5 10353948 10353948 single base substitution C T upstream_gene_variant MELA-AU 5 10355037 10355037 single base substitution A C intron_variant MELA-AU 5 10355442 10355442 single base substitution C T intron_variant MELA-AU 5 10356146 10356146 single base substitution C T intron_variant MELA-AU 5 10356814 10356814 single base substitution C T intron_variant MELA-AU 5 10356939 10356939 single base substitution T C intron_variant MELA-AU 5 10358173 10358173 single base substitution A C intron_variant MELA-AU 5 10359504 10359504 single base substitution A C intron_variant MELA-AU 5 10360111 10360111 single base substitution C T intron_variant MELA-AU 5 10360231 10360231 single base substitution G A intron_variant MELA-AU 5 10360303 10360303 single base substitution C T intron_variant MELA-AU 5 10360353 10360353 single base substitution C T intron_variant MELA-AU 5 10361138 10361138 single base substitution A G intron_variant MELA-AU 5 10361743 10361743 single base substitution G C intron_variant MELA-AU 5 10362794 10362794 single base substitution C T intron_variant MELA-AU 5 10363061 10363061 single base substitution C T intron_variant MELA-AU 5 10364898 10364898 single base substitution C T intron_variant MELA-AU 5 10365392 10365392 single base substitution C T intron_variant MELA-AU 5 10365745 10365745 single base substitution C T intron_variant MELA-AU 5 10366247 10366247 single base substitution T C intron_variant MELA-AU 5 10367944 10367944 single base substitution C T intron_variant MELA-AU 5 10368013 10368013 single base substitution C A intron_variant MELA-AU 5 10369846 10369846 single base substitution C T intron_variant MELA-AU 5 10370124 10370124 single base substitution G A intron_variant MELA-AU 5 10370560 10370561 deletion of <=200bp TA - intron_variant MELA-AU 5 10371352 10371352 single base substitution C T intron_variant MELA-AU 5 10371742 10371742 single base substitution C T intron_variant MELA-AU 5 10372505 10372505 single base substitution C T intron_variant MELA-AU 5 10373470 10373470 single base substitution C T intron_variant MELA-AU 5 10373478 10373478 single base substitution G C intron_variant MELA-AU 5 10375106 10375106 single base substitution C T intron_variant MELA-AU 5 10375159 10375159 single base substitution C T intron_variant MELA-AU 5 10375619 10375619 single base substitution C T intron_variant MELA-AU 5 10376485 10376486 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10377337 10377337 single base substitution C T intron_variant MELA-AU 5 10378025 10378025 single base substitution A G intron_variant MELA-AU 5 10378052 10378052 single base substitution C T intron_variant MELA-AU 5 10378128 10378128 single base substitution C T intron_variant MELA-AU 5 10378635 10378635 single base substitution T C intron_variant MELA-AU 5 10383852 10383852 single base substitution A G intron_variant MELA-AU 5 10383852 10383852 single base substitution A G upstream_gene_variant MELA-AU 5 10383937 10383937 single base substitution C T intron_variant MELA-AU 5 10383937 10383937 single base substitution C T upstream_gene_variant MELA-AU 5 10384105 10384105 single base substitution G A intron_variant MELA-AU 5 10384105 10384105 single base substitution G A upstream_gene_variant MELA-AU 5 10384130 10384130 single base substitution A G intron_variant MELA-AU 5 10384130 10384130 single base substitution A G upstream_gene_variant MELA-AU 5 10384413 10384413 single base substitution G A intron_variant MELA-AU 5 10384413 10384413 single base substitution G A upstream_gene_variant MELA-AU 5 10385066 10385066 single base substitution C T intron_variant MELA-AU 5 10385066 10385066 single base substitution C T upstream_gene_variant MELA-AU 5 10385090 10385090 single base substitution C T intron_variant MELA-AU 5 10385090 10385090 single base substitution C T upstream_gene_variant MELA-AU 5 10386827 10386827 single base substitution C T intron_variant MELA-AU 5 10386827 10386827 single base substitution C T upstream_gene_variant MELA-AU 5 10387704 10387704 single base substitution C T intron_variant MELA-AU 5 10388081 10388081 single base substitution C T intron_variant MELA-AU 5 10388365 10388365 single base substitution T C intron_variant MELA-AU 5 10388498 10388498 single base substitution C T intron_variant MELA-AU 5 10388499 10388499 single base substitution C T intron_variant MELA-AU 5 10388691 10388691 single base substitution T C intron_variant MELA-AU 5 10388770 10388770 single base substitution C T intron_variant MELA-AU 5 10389346 10389346 single base substitution C G intron_variant MELA-AU 5 10389514 10389514 single base substitution G A intron_variant MELA-AU 5 10390043 10390043 single base substitution T C intron_variant MELA-AU 5 10390071 10390071 single base substitution T A intron_variant MELA-AU 5 10391433 10391433 single base substitution T C downstream_gene_variant MELA-AU 5 10391433 10391433 single base substitution T C intron_variant MELA-AU 5 10392497 10392497 single base substitution C T downstream_gene_variant MELA-AU 5 10392497 10392497 single base substitution C T intron_variant MELA-AU 5 10392647 10392647 single base substitution C T downstream_gene_variant MELA-AU 5 10392647 10392647 single base substitution C T intron_variant MELA-AU 5 10392824 10392824 single base substitution C T downstream_gene_variant MELA-AU 5 10392824 10392824 single base substitution C T intron_variant MELA-AU 5 10392952 10392952 single base substitution C T downstream_gene_variant MELA-AU 5 10392952 10392952 single base substitution C T intron_variant MELA-AU 5 10393136 10393136 single base substitution T C downstream_gene_variant MELA-AU 5 10393136 10393136 single base substitution T C intron_variant MELA-AU 5 10393335 10393335 single base substitution G A downstream_gene_variant MELA-AU 5 10393335 10393335 single base substitution G A intron_variant MELA-AU 5 10393501 10393501 single base substitution A T downstream_gene_variant MELA-AU 5 10393501 10393501 single base substitution A T intron_variant MELA-AU 5 10393686 10393686 single base substitution C T downstream_gene_variant MELA-AU 5 10393686 10393686 single base substitution C T intron_variant MELA-AU 5 10394281 10394281 single base substitution C T downstream_gene_variant MELA-AU 5 10394281 10394281 single base substitution C T intron_variant MELA-AU 5 10394486 10394486 single base substitution T C downstream_gene_variant MELA-AU 5 10394486 10394486 single base substitution T C intron_variant MELA-AU 5 10394527 10394527 single base substitution T C downstream_gene_variant MELA-AU 5 10394527 10394527 single base substitution T C intron_variant MELA-AU 5 10394814 10394814 single base substitution G A downstream_gene_variant MELA-AU 5 10394814 10394814 single base substitution G A intron_variant MELA-AU 5 10395002 10395002 single base substitution C T downstream_gene_variant MELA-AU 5 10395002 10395002 single base substitution C T intron_variant MELA-AU 5 10395206 10395206 single base substitution C T downstream_gene_variant MELA-AU 5 10395206 10395206 single base substitution C T intron_variant MELA-AU 5 10395540 10395541 multiple base substitution (>=2bp and <=200bp) CA GC downstream_gene_variant MELA-AU 5 10395540 10395541 multiple base substitution (>=2bp and <=200bp) CA GC intron_variant MELA-AU 5 10397921 10397921 single base substitution C T intron_variant MELA-AU 5 10397921 10397921 single base substitution C T upstream_gene_variant MELA-AU 5 10398267 10398267 single base substitution C T intron_variant MELA-AU 5 10398267 10398267 single base substitution C T upstream_gene_variant MELA-AU 5 10398314 10398314 single base substitution G A intron_variant MELA-AU 5 10398314 10398314 single base substitution G A upstream_gene_variant MELA-AU 5 10398973 10398973 single base substitution C T intron_variant MELA-AU 5 10398973 10398973 single base substitution C T upstream_gene_variant MELA-AU 5 10399020 10399020 single base substitution C T intron_variant MELA-AU 5 10399020 10399020 single base substitution C T upstream_gene_variant MELA-AU 5 10399194 10399194 single base substitution T G intron_variant MELA-AU 5 10399194 10399194 single base substitution T G upstream_gene_variant MELA-AU 5 10400330 10400330 single base substitution G A intron_variant MELA-AU 5 10400330 10400330 single base substitution G A upstream_gene_variant MELA-AU 5 10401260 10401260 single base substitution C T exon_variant MELA-AU 5 10401260 10401260 single base substitution C T intron_variant MELA-AU 5 10401260 10401260 single base substitution C T upstream_gene_variant MELA-AU 5 10402676 10402676 single base substitution T C downstream_gene_variant MELA-AU 5 10402676 10402676 single base substitution T C exon_variant MELA-AU 5 10402676 10402676 single base substitution T C missense_variant V280A 839T>C MELA-AU 5 10402676 10402676 single base substitution T C missense_variant V337A 1010T>C MELA-AU 5 10402676 10402676 single base substitution T C missense_variant V385A 1154T>C MELA-AU 5 10402676 10402676 single base substitution T C missense_variant V83A 248T>C MELA-AU 5 10402771 10402771 single base substitution G A downstream_gene_variant MELA-AU 5 10402771 10402771 single base substitution G A intron_variant MELA-AU 5 10404039 10404039 single base substitution T C downstream_gene_variant MELA-AU 5 10404039 10404039 single base substitution T C intron_variant MELA-AU 5 10404184 10404184 single base substitution T C downstream_gene_variant MELA-AU 5 10404184 10404184 single base substitution T C intron_variant MELA-AU 5 10404188 10404188 single base substitution T C downstream_gene_variant MELA-AU 5 10404188 10404188 single base substitution T C intron_variant MELA-AU 5 10404456 10404477 deletion of <=200bp AGGTGTGAGCCACTGTGCCTGG - downstream_gene_variant MELA-AU 5 10404456 10404477 deletion of <=200bp AGGTGTGAGCCACTGTGCCTGG - intron_variant MELA-AU 5 10404652 10404652 single base substitution G A downstream_gene_variant MELA-AU 5 10404652 10404652 single base substitution G A intron_variant MELA-AU 5 10404661 10404661 single base substitution C T downstream_gene_variant MELA-AU 5 10404661 10404661 single base substitution C T intron_variant MELA-AU 5 10405060 10405060 single base substitution C T downstream_gene_variant MELA-AU 5 10405060 10405060 single base substitution C T intron_variant MELA-AU 5 10405063 10405063 single base substitution T A downstream_gene_variant MELA-AU 5 10405063 10405063 single base substitution T A intron_variant MELA-AU 5 10405768 10405768 single base substitution C T downstream_gene_variant MELA-AU 5 10405768 10405768 single base substitution C T exon_variant MELA-AU 5 10405768 10405768 single base substitution C T synonymous_variant L175L 525C>T MELA-AU 5 10405768 10405768 single base substitution C T synonymous_variant L372L 1116C>T MELA-AU 5 10405768 10405768 single base substitution C T synonymous_variant L429L 1287C>T MELA-AU 5 10405768 10405768 single base substitution C T synonymous_variant L477L 1431C>T MELA-AU 5 10405768 10405768 single base substitution C T upstream_gene_variant MELA-AU 5 10406144 10406144 single base substitution C T downstream_gene_variant MELA-AU 5 10406144 10406144 single base substitution C T intron_variant MELA-AU 5 10406144 10406144 single base substitution C T upstream_gene_variant MELA-AU 5 10406168 10406168 single base substitution G A downstream_gene_variant MELA-AU 5 10406168 10406168 single base substitution G A intron_variant MELA-AU 5 10406168 10406168 single base substitution G A upstream_gene_variant MELA-AU 5 10406332 10406332 single base substitution G T downstream_gene_variant MELA-AU 5 10406332 10406332 single base substitution G T intron_variant MELA-AU 5 10406332 10406332 single base substitution G T upstream_gene_variant MELA-AU 5 10408071 10408071 single base substitution C G intron_variant MELA-AU 5 10408071 10408071 single base substitution C G upstream_gene_variant MELA-AU 5 10408408 10408408 single base substitution C T intron_variant MELA-AU 5 10408408 10408408 single base substitution C T upstream_gene_variant MELA-AU 5 10408637 10408637 single base substitution T A intron_variant MELA-AU 5 10408637 10408637 single base substitution T A upstream_gene_variant MELA-AU 5 10408671 10408671 single base substitution G A intron_variant MELA-AU 5 10408671 10408671 single base substitution G A upstream_gene_variant MELA-AU 5 10409474 10409475 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10409474 10409475 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 10409933 10409933 single base substitution C T intron_variant MELA-AU 5 10409933 10409933 single base substitution C T upstream_gene_variant MELA-AU 5 10410061 10410061 single base substitution C T intron_variant MELA-AU 5 10410061 10410061 single base substitution C T upstream_gene_variant MELA-AU 5 10411761 10411761 single base substitution T C intron_variant MELA-AU 5 10411761 10411761 single base substitution T C upstream_gene_variant MELA-AU 5 10413545 10413545 single base substitution C T exon_variant MELA-AU 5 10413545 10413545 single base substitution C T intron_variant MELA-AU 5 10413545 10413545 single base substitution C T upstream_gene_variant MELA-AU 5 10413838 10413839 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10413838 10413839 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 10414365 10414365 single base substitution C T intron_variant MELA-AU 5 10414365 10414365 single base substitution C T upstream_gene_variant MELA-AU 5 10416461 10416461 single base substitution T A intron_variant MELA-AU 5 10416807 10416807 single base substitution C T intron_variant MELA-AU 5 10418521 10418521 single base substitution C T downstream_gene_variant MELA-AU 5 10418521 10418521 single base substitution C T intron_variant MELA-AU 5 10418579 10418579 single base substitution A T downstream_gene_variant MELA-AU 5 10418579 10418579 single base substitution A T intron_variant MELA-AU 5 10418905 10418905 single base substitution C T downstream_gene_variant MELA-AU 5 10418905 10418905 single base substitution C T intron_variant MELA-AU 5 10419002 10419002 single base substitution G C downstream_gene_variant MELA-AU 5 10419002 10419002 single base substitution G C intron_variant MELA-AU 5 10419504 10419504 single base substitution C T downstream_gene_variant MELA-AU 5 10419504 10419504 single base substitution C T intron_variant MELA-AU 5 10420081 10420081 single base substitution G A downstream_gene_variant MELA-AU 5 10420081 10420081 single base substitution G A intron_variant MELA-AU 5 10420533 10420533 single base substitution G A downstream_gene_variant MELA-AU 5 10420533 10420533 single base substitution G A intron_variant MELA-AU 5 10421058 10421058 single base substitution C T downstream_gene_variant MELA-AU 5 10421058 10421058 single base substitution C T intron_variant MELA-AU 5 10421967 10421968 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 10421967 10421968 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10423125 10423125 single base substitution T A downstream_gene_variant MELA-AU 5 10423125 10423125 single base substitution T A intron_variant MELA-AU 5 10424078 10424078 single base substitution T A downstream_gene_variant MELA-AU 5 10424078 10424078 single base substitution T A intron_variant MELA-AU 5 10424557 10424558 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 10424557 10424558 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 10424587 10424587 single base substitution C T downstream_gene_variant MELA-AU 5 10424587 10424587 single base substitution C T intron_variant MELA-AU 5 10424609 10424609 single base substitution C G downstream_gene_variant MELA-AU 5 10424609 10424609 single base substitution C G intron_variant MELA-AU 5 10424616 10424616 single base substitution T C downstream_gene_variant MELA-AU 5 10424616 10424616 single base substitution T C intron_variant MELA-AU 5 10425203 10425203 single base substitution C T downstream_gene_variant MELA-AU 5 10425203 10425203 single base substitution C T intron_variant MELA-AU 5 10425323 10425323 single base substitution A G downstream_gene_variant MELA-AU 5 10425323 10425323 single base substitution A G intron_variant MELA-AU 5 10425416 10425417 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 10425416 10425417 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10426073 10426074 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 10426073 10426074 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10426698 10426699 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 10426698 10426699 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10427288 10427288 single base substitution C T downstream_gene_variant MELA-AU 5 10427288 10427288 single base substitution C T intron_variant MELA-AU 5 10428236 10428236 single base substitution C T downstream_gene_variant MELA-AU 5 10428236 10428236 single base substitution C T intron_variant MELA-AU 5 10428657 10428657 single base substitution T C downstream_gene_variant MELA-AU 5 10428657 10428657 single base substitution T C intron_variant MELA-AU 5 10429662 10429662 single base substitution C T intron_variant MELA-AU 5 10429662 10429662 single base substitution C T upstream_gene_variant MELA-AU 5 10430429 10430429 single base substitution T C intron_variant MELA-AU 5 10430429 10430429 single base substitution T C upstream_gene_variant MELA-AU 5 10430580 10430589 deletion of <=200bp GCTAATTTTT - intron_variant MELA-AU 5 10430580 10430589 deletion of <=200bp GCTAATTTTT - upstream_gene_variant MELA-AU 5 10430651 10430651 single base substitution C T intron_variant MELA-AU 5 10430651 10430651 single base substitution C T upstream_gene_variant MELA-AU 5 10431401 10431401 single base substitution C T intron_variant MELA-AU 5 10431401 10431401 single base substitution C T upstream_gene_variant MELA-AU 5 10432057 10432057 single base substitution G A intron_variant MELA-AU 5 10432057 10432057 single base substitution G A upstream_gene_variant MELA-AU 5 10432630 10432630 single base substitution C T intron_variant MELA-AU 5 10432630 10432630 single base substitution C T upstream_gene_variant MELA-AU 5 10433103 10433103 single base substitution C T intron_variant MELA-AU 5 10433103 10433103 single base substitution C T upstream_gene_variant MELA-AU 5 10433417 10433418 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10433417 10433418 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 10433548 10433548 single base substitution G A intron_variant MELA-AU 5 10433548 10433548 single base substitution G A upstream_gene_variant MELA-AU 5 10433856 10433856 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10433856 10433856 single base substitution C T downstream_gene_variant MELA-AU 5 10433856 10433856 single base substitution C T exon_variant MELA-AU 5 10433856 10433856 single base substitution C T upstream_gene_variant MELA-AU 5 10434944 10434944 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10434944 10434944 single base substitution C T downstream_gene_variant MELA-AU 5 10434944 10434944 single base substitution C T intron_variant MELA-AU 5 10435059 10435059 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10435059 10435059 single base substitution C T downstream_gene_variant MELA-AU 5 10435059 10435059 single base substitution C T intron_variant MELA-AU 5 10435582 10435582 insertion of <=200bp - T 3_prime_UTR_variant MELA-AU 5 10435582 10435582 insertion of <=200bp - T downstream_gene_variant MELA-AU 5 10435582 10435582 insertion of <=200bp - T intron_variant MELA-AU 5 10436079 10436079 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10436079 10436079 single base substitution C T downstream_gene_variant MELA-AU 5 10436079 10436079 single base substitution C T intron_variant MELA-AU 5 10436281 10436281 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10436281 10436281 single base substitution C T downstream_gene_variant MELA-AU 5 10436281 10436281 single base substitution C T intron_variant MELA-AU 5 10436415 10436415 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10436415 10436415 single base substitution C T downstream_gene_variant MELA-AU 5 10436415 10436415 single base substitution C T intron_variant MELA-AU 5 10436576 10436577 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 5 10436576 10436577 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 10436576 10436577 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 10436918 10436918 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10436918 10436918 single base substitution C T downstream_gene_variant MELA-AU 5 10436918 10436918 single base substitution C T exon_variant MELA-AU 5 10437321 10437321 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10437321 10437321 single base substitution C T downstream_gene_variant MELA-AU 5 10437321 10437321 single base substitution C T exon_variant MELA-AU 5 10437500 10437500 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10437500 10437500 single base substitution C T downstream_gene_variant MELA-AU 5 10437500 10437500 single base substitution C T exon_variant MELA-AU 5 10438386 10438386 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10438386 10438386 single base substitution C T downstream_gene_variant MELA-AU 5 10438409 10438409 single base substitution C A 3_prime_UTR_variant MELA-AU 5 10438409 10438409 single base substitution C A downstream_gene_variant MELA-AU 5 10438434 10438434 single base substitution T C 3_prime_UTR_variant MELA-AU 5 10438434 10438434 single base substitution T C downstream_gene_variant MELA-AU 5 10438626 10438626 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10438626 10438626 single base substitution C T downstream_gene_variant MELA-AU 5 10439188 10439188 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10439188 10439188 single base substitution C T downstream_gene_variant MELA-AU 5 10439925 10439925 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10439925 10439925 single base substitution C T downstream_gene_variant MELA-AU 5 10440161 10440161 single base substitution C T 3_prime_UTR_variant MELA-AU 5 10440161 10440161 single base substitution C T downstream_gene_variant MELA-AU 5 10440957 10440957 single base substitution G A downstream_gene_variant MELA-AU 5 10440989 10440989 single base substitution G A downstream_gene_variant MELA-AU 5 10441029 10441029 single base substitution G A downstream_gene_variant MELA-AU 5 10442757 10442757 single base substitution G T downstream_gene_variant MELA-AU 5 10442925 10442925 single base substitution A C downstream_gene_variant MELA-AU 5 10443101 10443101 single base substitution A C downstream_gene_variant MELA-AU 5 10443359 10443359 single base substitution C T downstream_gene_variant MELA-AU 5 10443391 10443391 single base substitution C T downstream_gene_variant MELA-AU 5 10443923 10443923 single base substitution C T downstream_gene_variant MELA-AU 5 10444480 10444480 single base substitution G A downstream_gene_variant MELA-AU 5 10444495 10444495 single base substitution C T downstream_gene_variant MELA-AU 5 10444816 10444816 single base substitution A G downstream_gene_variant MELA-AU 5 10444906 10444906 single base substitution G A downstream_gene_variant MELA-AU 5 10444919 10444919 single base substitution G A downstream_gene_variant MELA-AU 5 10444965 10444965 single base substitution C T downstream_gene_variant MELA-AU 5 10445007 10445007 single base substitution T G downstream_gene_variant MELA-AU 5 10445043 10445044 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant NBL-US 5 10417477 10417477 single base substitution G T exon_variant NBL-US 5 10417477 10417477 single base substitution G T missense_variant R446S 1338G>T NBL-US 5 10417477 10417477 single base substitution G T missense_variant R643S 1929G>T NBL-US 5 10417477 10417477 single base substitution G T missense_variant R700S 2100G>T NBL-US 5 10417477 10417477 single base substitution G T missense_variant R748S 2244G>T ORCA-IN 5 10359048 10359048 single base substitution G C intron_variant ORCA-IN 5 10412928 10412928 single base substitution C G intron_variant ORCA-IN 5 10412928 10412928 single base substitution C G upstream_gene_variant ORCA-IN 5 10431764 10431764 single base substitution A T intron_variant ORCA-IN 5 10431764 10431764 single base substitution A T upstream_gene_variant ORCA-IN 5 10440772 10440772 deletion of <=200bp C - downstream_gene_variant OV-AU 5 10349098 10349098 single base substitution C G upstream_gene_variant OV-AU 5 10349340 10349340 single base substitution T C upstream_gene_variant OV-AU 5 10350056 10350056 single base substitution T C upstream_gene_variant OV-AU 5 10363311 10363311 single base substitution C G intron_variant OV-AU 5 10366105 10366105 single base substitution C G intron_variant OV-AU 5 10368614 10368614 single base substitution C T intron_variant OV-AU 5 10369389 10369389 single base substitution A T intron_variant OV-AU 5 10375691 10375691 single base substitution A C intron_variant OV-AU 5 10375893 10375893 single base substitution C G intron_variant OV-AU 5 10380037 10380037 single base substitution C T intron_variant OV-AU 5 10380943 10380943 single base substitution G T intron_variant OV-AU 5 10384182 10384182 single base substitution G A intron_variant OV-AU 5 10384182 10384182 single base substitution G A upstream_gene_variant OV-AU 5 10387715 10387715 single base substitution G T intron_variant OV-AU 5 10390413 10390413 single base substitution G C intron_variant OV-AU 5 10395111 10395111 single base substitution C G downstream_gene_variant OV-AU 5 10395111 10395111 single base substitution C G intron_variant OV-AU 5 10395637 10395637 single base substitution G T downstream_gene_variant OV-AU 5 10395637 10395637 single base substitution G T intron_variant OV-AU 5 10401475 10401475 single base substitution G A exon_variant OV-AU 5 10401475 10401475 single base substitution G A intron_variant OV-AU 5 10401475 10401475 single base substitution G A upstream_gene_variant OV-AU 5 10401477 10401477 single base substitution C A exon_variant OV-AU 5 10401477 10401477 single base substitution C A intron_variant OV-AU 5 10401477 10401477 single base substitution C A upstream_gene_variant OV-AU 5 10402785 10402785 single base substitution C T downstream_gene_variant OV-AU 5 10402785 10402785 single base substitution C T intron_variant OV-AU 5 10410058 10410058 single base substitution A C intron_variant OV-AU 5 10410058 10410058 single base substitution A C upstream_gene_variant OV-AU 5 10412718 10412718 single base substitution C T intron_variant OV-AU 5 10412718 10412718 single base substitution C T upstream_gene_variant OV-AU 5 10416953 10416953 single base substitution C G intron_variant OV-AU 5 10424320 10424320 single base substitution G C downstream_gene_variant OV-AU 5 10424320 10424320 single base substitution G C intron_variant OV-AU 5 10426000 10426000 single base substitution T G downstream_gene_variant OV-AU 5 10426000 10426000 single base substitution T G intron_variant OV-AU 5 10427312 10427312 single base substitution C G downstream_gene_variant OV-AU 5 10427312 10427312 single base substitution C G intron_variant OV-AU 5 10432897 10432897 single base substitution T G intron_variant OV-AU 5 10432897 10432897 single base substitution T G upstream_gene_variant OV-AU 5 10435488 10435488 single base substitution T A 3_prime_UTR_variant OV-AU 5 10435488 10435488 single base substitution T A downstream_gene_variant OV-AU 5 10435488 10435488 single base substitution T A intron_variant OV-AU 5 10437946 10437946 single base substitution G C 3_prime_UTR_variant OV-AU 5 10437946 10437946 single base substitution G C downstream_gene_variant OV-AU 5 10437946 10437946 single base substitution G C exon_variant PACA-AU 5 10349908 10349916 deletion of <=200bp AAAAAACCC - upstream_gene_variant PACA-AU 5 10359221 10359221 single base substitution G A intron_variant PACA-AU 5 10363485 10363485 deletion of <=200bp A - intron_variant PACA-AU 5 10370214 10370214 single base substitution T A intron_variant PACA-AU 5 10371230 10371230 single base substitution A C intron_variant PACA-AU 5 10378635 10378635 insertion of <=200bp - T intron_variant PACA-AU 5 10390861 10390861 single base substitution G A downstream_gene_variant PACA-AU 5 10390861 10390861 single base substitution G A intron_variant PACA-AU 5 10391800 10391800 single base substitution C T downstream_gene_variant PACA-AU 5 10391800 10391800 single base substitution C T exon_variant PACA-AU 5 10391800 10391800 single base substitution C T synonymous_variant D136D 408C>T PACA-AU 5 10391800 10391800 single base substitution C T synonymous_variant D193D 579C>T PACA-AU 5 10391800 10391800 single base substitution C T synonymous_variant D241D 723C>T PACA-AU 5 10392497 10392497 single base substitution C A downstream_gene_variant PACA-AU 5 10392497 10392497 single base substitution C A intron_variant PACA-AU 5 10397691 10397691 single base substitution G T intron_variant PACA-AU 5 10397691 10397691 single base substitution G T upstream_gene_variant PACA-AU 5 10401514 10401514 single base substitution T A exon_variant PACA-AU 5 10401514 10401514 single base substitution T A intron_variant PACA-AU 5 10401514 10401514 single base substitution T A upstream_gene_variant PACA-AU 5 10402606 10402606 single base substitution A G downstream_gene_variant PACA-AU 5 10402606 10402606 single base substitution A G intron_variant PACA-AU 5 10403690 10403690 single base substitution T C downstream_gene_variant PACA-AU 5 10403690 10403690 single base substitution T C intron_variant PACA-AU 5 10403930 10403930 single base substitution C T downstream_gene_variant PACA-AU 5 10403930 10403930 single base substitution C T intron_variant PACA-AU 5 10406321 10406321 single base substitution G A downstream_gene_variant PACA-AU 5 10406321 10406321 single base substitution G A intron_variant PACA-AU 5 10406321 10406321 single base substitution G A upstream_gene_variant PACA-AU 5 10406861 10406861 single base substitution A G downstream_gene_variant PACA-AU 5 10406861 10406861 single base substitution A G intron_variant PACA-AU 5 10406861 10406861 single base substitution A G upstream_gene_variant PACA-AU 5 10409075 10409076 deletion of <=200bp TC - intron_variant PACA-AU 5 10409075 10409076 deletion of <=200bp TC - upstream_gene_variant PACA-AU 5 10413655 10413655 insertion of <=200bp - TAT intron_variant PACA-AU 5 10413655 10413655 insertion of <=200bp - TAT upstream_gene_variant PACA-AU 5 10419509 10419509 single base substitution C T downstream_gene_variant PACA-AU 5 10419509 10419509 single base substitution C T intron_variant PACA-AU 5 10421966 10421966 single base substitution C T downstream_gene_variant PACA-AU 5 10421966 10421966 single base substitution C T intron_variant PACA-AU 5 10426399 10426399 single base substitution G A downstream_gene_variant PACA-AU 5 10426399 10426399 single base substitution G A intron_variant PACA-AU 5 10439735 10439735 single base substitution T C 3_prime_UTR_variant PACA-AU 5 10439735 10439735 single base substitution T C downstream_gene_variant PACA-AU 5 10442507 10442507 single base substitution T C downstream_gene_variant PACA-CA 5 10351445 10351445 single base substitution G T upstream_gene_variant PACA-CA 5 10352501 10352501 single base substitution G A upstream_gene_variant PACA-CA 5 10356052 10356061 deletion of <=200bp CTTTATTTTG - intron_variant PACA-CA 5 10356619 10356619 single base substitution T C intron_variant PACA-CA 5 10358834 10358834 single base substitution A G intron_variant PACA-CA 5 10359463 10359463 single base substitution G A intron_variant PACA-CA 5 10361626 10361626 insertion of <=200bp - T intron_variant PACA-CA 5 10362760 10362760 single base substitution T G intron_variant PACA-CA 5 10368605 10368605 single base substitution T A intron_variant PACA-CA 5 10370362 10370362 single base substitution G A intron_variant PACA-CA 5 10374547 10374547 single base substitution T A intron_variant PACA-CA 5 10376736 10376736 single base substitution T A intron_variant PACA-CA 5 10379053 10379053 single base substitution C A intron_variant PACA-CA 5 10379739 10379739 insertion of <=200bp - T intron_variant PACA-CA 5 10387137 10387137 single base substitution C T exon_variant PACA-CA 5 10387137 10387137 single base substitution C T intron_variant PACA-CA 5 10387137 10387137 single base substitution C T synonymous_variant S122S 366C>T PACA-CA 5 10387137 10387137 single base substitution C T synonymous_variant S17S 51C>T PACA-CA 5 10387137 10387137 single base substitution C T synonymous_variant S74S 222C>T PACA-CA 5 10396740 10396740 single base substitution T A intron_variant PACA-CA 5 10396740 10396740 single base substitution T A upstream_gene_variant PACA-CA 5 10399030 10399030 single base substitution C T intron_variant PACA-CA 5 10399030 10399030 single base substitution C T upstream_gene_variant PACA-CA 5 10405330 10405330 single base substitution A G downstream_gene_variant PACA-CA 5 10405330 10405330 single base substitution A G intron_variant PACA-CA 5 10405330 10405330 single base substitution A G upstream_gene_variant PACA-CA 5 10405443 10405443 single base substitution C T downstream_gene_variant PACA-CA 5 10405443 10405443 single base substitution C T intron_variant PACA-CA 5 10405443 10405443 single base substitution C T upstream_gene_variant PACA-CA 5 10406118 10406118 deletion of <=200bp C - downstream_gene_variant PACA-CA 5 10406118 10406118 deletion of <=200bp C - intron_variant PACA-CA 5 10406118 10406118 deletion of <=200bp C - upstream_gene_variant PACA-CA 5 10407008 10407008 single base substitution G A downstream_gene_variant PACA-CA 5 10407008 10407008 single base substitution G A intron_variant PACA-CA 5 10407008 10407008 single base substitution G A upstream_gene_variant PACA-CA 5 10407877 10407877 single base substitution C T intron_variant PACA-CA 5 10407877 10407877 single base substitution C T upstream_gene_variant PACA-CA 5 10408186 10408186 single base substitution G C intron_variant PACA-CA 5 10408186 10408186 single base substitution G C upstream_gene_variant PACA-CA 5 10410794 10410794 single base substitution T C intron_variant PACA-CA 5 10410794 10410794 single base substitution T C upstream_gene_variant PACA-CA 5 10423234 10423234 single base substitution C T downstream_gene_variant PACA-CA 5 10423234 10423234 single base substitution C T intron_variant PACA-CA 5 10426639 10426639 single base substitution G A downstream_gene_variant PACA-CA 5 10426639 10426639 single base substitution G A splice_region_variant PACA-CA 5 10427632 10427632 single base substitution C T downstream_gene_variant PACA-CA 5 10427632 10427632 single base substitution C T intron_variant PACA-CA 5 10431334 10431334 single base substitution C G intron_variant PACA-CA 5 10431334 10431334 single base substitution C G upstream_gene_variant PACA-CA 5 10431674 10431674 single base substitution T C intron_variant PACA-CA 5 10431674 10431674 single base substitution T C upstream_gene_variant PACA-CA 5 10440772 10440772 single base substitution C T downstream_gene_variant PACA-CA 5 10442742 10442742 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 10443968 10443968 single base substitution C G downstream_gene_variant PAEN-AU 5 10413561 10413561 deletion of <=200bp T - intron_variant PAEN-AU 5 10413561 10413561 deletion of <=200bp T - splice_region_variant PAEN-AU 5 10413561 10413561 deletion of <=200bp T - upstream_gene_variant PAEN-AU 5 10417120 10417120 single base substitution C G intron_variant PAEN-AU 5 10430418 10430418 single base substitution T G intron_variant PAEN-AU 5 10430418 10430418 single base substitution T G upstream_gene_variant PAEN-AU 5 10430529 10430529 single base substitution T C intron_variant PAEN-AU 5 10430529 10430529 single base substitution T C upstream_gene_variant PAEN-AU 5 10430530 10430530 single base substitution G A intron_variant PAEN-AU 5 10430530 10430530 single base substitution G A upstream_gene_variant PAEN-AU 5 10431738 10431738 single base substitution A T intron_variant PAEN-AU 5 10431738 10431738 single base substitution A T upstream_gene_variant PAEN-IT 5 10399453 10399453 single base substitution G A intron_variant PAEN-IT 5 10399453 10399453 single base substitution G A upstream_gene_variant PAEN-IT 5 10421905 10421905 single base substitution C T downstream_gene_variant PAEN-IT 5 10421905 10421905 single base substitution C T intron_variant PBCA-DE 5 10355621 10355621 single base substitution T A intron_variant PBCA-DE 5 10360494 10360494 single base substitution A G intron_variant PBCA-DE 5 10377658 10377658 single base substitution C T intron_variant PBCA-DE 5 10378583 10378583 deletion of <=200bp T - intron_variant PBCA-DE 5 10394405 10394405 single base substitution T C downstream_gene_variant PBCA-DE 5 10394405 10394405 single base substitution T C intron_variant PBCA-DE 5 10404172 10404172 single base substitution T C downstream_gene_variant PBCA-DE 5 10404172 10404172 single base substitution T C intron_variant PBCA-DE 5 10424613 10424613 single base substitution C T downstream_gene_variant PBCA-DE 5 10424613 10424613 single base substitution C T intron_variant PBCA-DE 5 10429143 10429143 single base substitution G T intron_variant PBCA-DE 5 10429143 10429143 single base substitution G T upstream_gene_variant PBCA-DE 5 10440247 10440247 single base substitution G T 3_prime_UTR_variant PBCA-DE 5 10440247 10440247 single base substitution G T downstream_gene_variant PBCA-DE 5 10440853 10440853 single base substitution G A downstream_gene_variant PBCA-DE 5 10441565 10441565 single base substitution A G downstream_gene_variant PRAD-CA 5 10349666 10349666 single base substitution C G upstream_gene_variant PRAD-CA 5 10357479 10357479 single base substitution C T intron_variant PRAD-CA 5 10371362 10371362 single base substitution T C intron_variant PRAD-CA 5 10380501 10380501 single base substitution A G intron_variant PRAD-CA 5 10404184 10404184 single base substitution T C downstream_gene_variant PRAD-CA 5 10404184 10404184 single base substitution T C intron_variant PRAD-CA 5 10412921 10412921 single base substitution A C intron_variant PRAD-CA 5 10412921 10412921 single base substitution A C upstream_gene_variant PRAD-CA 5 10438688 10438688 single base substitution C T 3_prime_UTR_variant PRAD-CA 5 10438688 10438688 single base substitution C T downstream_gene_variant PRAD-CA 5 10440772 10440772 single base substitution C T downstream_gene_variant PRAD-UK 5 10350126 10350126 single base substitution G C upstream_gene_variant PRAD-UK 5 10369993 10369993 single base substitution A G intron_variant PRAD-UK 5 10370735 10370735 insertion of <=200bp - T intron_variant PRAD-UK 5 10374522 10374522 single base substitution C G intron_variant PRAD-UK 5 10381912 10381912 single base substitution T C intron_variant PRAD-UK 5 10381912 10381912 single base substitution T C missense_variant I64T 191T>C PRAD-UK 5 10381912 10381912 single base substitution T C splice_region_variant PRAD-UK 5 10390143 10390143 single base substitution C T intron_variant PRAD-UK 5 10394605 10394605 single base substitution G A downstream_gene_variant PRAD-UK 5 10394605 10394605 single base substitution G A intron_variant PRAD-UK 5 10410784 10410784 single base substitution T C intron_variant PRAD-UK 5 10410784 10410784 single base substitution T C upstream_gene_variant PRAD-UK 5 10412802 10412802 single base substitution C G intron_variant PRAD-UK 5 10412802 10412802 single base substitution C G upstream_gene_variant PRAD-UK 5 10426054 10426054 single base substitution A G downstream_gene_variant PRAD-UK 5 10426054 10426054 single base substitution A G intron_variant PRAD-UK 5 10433402 10433402 single base substitution A G intron_variant PRAD-UK 5 10433402 10433402 single base substitution A G upstream_gene_variant READ-US 5 10410318 10410318 single base substitution G A exon_variant READ-US 5 10410318 10410318 single base substitution G A missense_variant E239K 715G>A READ-US 5 10410318 10410318 single base substitution G A missense_variant E436K 1306G>A READ-US 5 10410318 10410318 single base substitution G A missense_variant E493K 1477G>A READ-US 5 10410318 10410318 single base substitution G A missense_variant E541K 1621G>A READ-US 5 10410318 10410318 single base substitution G A upstream_gene_variant RECA-EU 5 10358874 10358874 single base substitution A C intron_variant RECA-EU 5 10362791 10362791 single base substitution A C intron_variant RECA-EU 5 10380783 10380783 single base substitution A C intron_variant RECA-EU 5 10399785 10399785 single base substitution C G intron_variant RECA-EU 5 10399785 10399785 single base substitution C G upstream_gene_variant RECA-EU 5 10410496 10410496 single base substitution A G intron_variant RECA-EU 5 10410496 10410496 single base substitution A G upstream_gene_variant RECA-EU 5 10416151 10416151 single base substitution T G intron_variant RECA-EU 5 10419450 10419450 single base substitution A T downstream_gene_variant RECA-EU 5 10419450 10419450 single base substitution A T intron_variant RECA-EU 5 10431028 10431028 single base substitution T A intron_variant RECA-EU 5 10431028 10431028 single base substitution T A upstream_gene_variant RECA-EU 5 10432942 10432942 single base substitution A T intron_variant RECA-EU 5 10432942 10432942 single base substitution A T upstream_gene_variant RECA-EU 5 10441316 10441316 single base substitution C A downstream_gene_variant SKCA-BR 5 10349734 10349734 single base substitution G A upstream_gene_variant SKCA-BR 5 10352622 10352622 insertion of <=200bp - CAAAA upstream_gene_variant SKCA-BR 5 10353731 10353731 single base substitution G A upstream_gene_variant SKCA-BR 5 10356455 10356455 insertion of <=200bp - ATTTAT intron_variant SKCA-BR 5 10356455 10356460 deletion of <=200bp ATTTAT - intron_variant SKCA-BR 5 10364528 10364528 single base substitution A T intron_variant SKCA-BR 5 10364846 10364846 single base substitution A C intron_variant SKCA-BR 5 10366534 10366534 single base substitution C T intron_variant SKCA-BR 5 10372140 10372140 single base substitution C T intron_variant SKCA-BR 5 10373209 10373214 deletion of <=200bp AAACTT - intron_variant SKCA-BR 5 10381070 10381070 single base substitution T G intron_variant SKCA-BR 5 10391453 10391453 single base substitution C T downstream_gene_variant SKCA-BR 5 10391453 10391453 single base substitution C T intron_variant SKCA-BR 5 10399360 10399360 single base substitution C T intron_variant SKCA-BR 5 10399360 10399360 single base substitution C T upstream_gene_variant SKCA-BR 5 10404143 10404163 deletion of <=200bp CTTTATTTATTTATTTATTTA - downstream_gene_variant SKCA-BR 5 10404143 10404163 deletion of <=200bp CTTTATTTATTTATTTATTTA - intron_variant SKCA-BR 5 10404184 10404184 insertion of <=200bp - TTTAC downstream_gene_variant SKCA-BR 5 10404184 10404184 insertion of <=200bp - TTTAC intron_variant SKCA-BR 5 10405428 10405428 single base substitution G T downstream_gene_variant SKCA-BR 5 10405428 10405428 single base substitution G T intron_variant SKCA-BR 5 10405428 10405428 single base substitution G T upstream_gene_variant SKCA-BR 5 10405438 10405438 single base substitution T C downstream_gene_variant SKCA-BR 5 10405438 10405438 single base substitution T C intron_variant SKCA-BR 5 10405438 10405438 single base substitution T C upstream_gene_variant SKCA-BR 5 10405789 10405789 single base substitution G A downstream_gene_variant SKCA-BR 5 10405789 10405789 single base substitution G A splice_region_variant SKCA-BR 5 10405789 10405789 single base substitution G A upstream_gene_variant SKCA-BR 5 10406435 10406435 single base substitution C G downstream_gene_variant SKCA-BR 5 10406435 10406435 single base substitution C G intron_variant SKCA-BR 5 10406435 10406435 single base substitution C G upstream_gene_variant SKCA-BR 5 10406887 10406887 single base substitution G A downstream_gene_variant SKCA-BR 5 10406887 10406887 single base substitution G A intron_variant SKCA-BR 5 10406887 10406887 single base substitution G A upstream_gene_variant SKCA-BR 5 10407177 10407177 single base substitution C A downstream_gene_variant SKCA-BR 5 10407177 10407177 single base substitution C A intron_variant SKCA-BR 5 10407177 10407177 single base substitution C A upstream_gene_variant SKCA-BR 5 10408065 10408067 deletion of <=200bp TCC - intron_variant SKCA-BR 5 10408065 10408067 deletion of <=200bp TCC - upstream_gene_variant SKCA-BR 5 10408170 10408170 single base substitution A G intron_variant SKCA-BR 5 10408170 10408170 single base substitution A G upstream_gene_variant SKCA-BR 5 10408277 10408277 single base substitution G T intron_variant SKCA-BR 5 10408277 10408277 single base substitution G T upstream_gene_variant SKCA-BR 5 10408760 10408760 single base substitution C T intron_variant SKCA-BR 5 10408760 10408760 single base substitution C T upstream_gene_variant SKCA-BR 5 10409039 10409039 single base substitution C T intron_variant SKCA-BR 5 10409039 10409039 single base substitution C T upstream_gene_variant SKCA-BR 5 10409739 10409739 single base substitution T A intron_variant SKCA-BR 5 10409739 10409739 single base substitution T A upstream_gene_variant SKCA-BR 5 10412408 10412408 single base substitution C T intron_variant SKCA-BR 5 10412408 10412408 single base substitution C T upstream_gene_variant SKCA-BR 5 10412812 10412812 single base substitution C T intron_variant SKCA-BR 5 10412812 10412812 single base substitution C T upstream_gene_variant SKCA-BR 5 10413426 10413426 single base substitution G T exon_variant SKCA-BR 5 10413426 10413426 single base substitution G T intron_variant SKCA-BR 5 10413426 10413426 single base substitution G T upstream_gene_variant SKCA-BR 5 10415475 10415475 single base substitution T G intron_variant SKCA-BR 5 10415475 10415475 single base substitution T G upstream_gene_variant SKCA-BR 5 10417650 10417650 single base substitution G A downstream_gene_variant SKCA-BR 5 10417650 10417650 single base substitution G A intron_variant SKCA-BR 5 10418336 10418336 single base substitution C T downstream_gene_variant SKCA-BR 5 10418336 10418336 single base substitution C T intron_variant SKCA-BR 5 10430057 10430057 single base substitution A T exon_variant SKCA-BR 5 10430057 10430057 single base substitution A T missense_variant L551F 1653A>T SKCA-BR 5 10430057 10430057 single base substitution A T missense_variant L748F 2244A>T SKCA-BR 5 10430057 10430057 single base substitution A T missense_variant L805F 2415A>T SKCA-BR 5 10430057 10430057 single base substitution A T missense_variant L853F 2559A>T SKCA-BR 5 10430057 10430057 single base substitution A T upstream_gene_variant SKCA-BR 5 10430087 10430087 single base substitution G T exon_variant SKCA-BR 5 10430087 10430087 single base substitution G T missense_variant L561F 1683G>T SKCA-BR 5 10430087 10430087 single base substitution G T missense_variant L758F 2274G>T SKCA-BR 5 10430087 10430087 single base substitution G T missense_variant L815F 2445G>T SKCA-BR 5 10430087 10430087 single base substitution G T missense_variant L863F 2589G>T SKCA-BR 5 10430087 10430087 single base substitution G T upstream_gene_variant SKCA-BR 5 10432317 10432317 single base substitution C T intron_variant SKCA-BR 5 10432317 10432317 single base substitution C T upstream_gene_variant SKCA-BR 5 10432673 10432673 single base substitution G A intron_variant SKCA-BR 5 10432673 10432673 single base substitution G A upstream_gene_variant SKCA-BR 5 10434587 10434587 insertion of <=200bp - AG 3_prime_UTR_variant SKCA-BR 5 10434587 10434587 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 5 10434587 10434587 insertion of <=200bp - AG intron_variant SKCA-BR 5 10435743 10435759 deletion of <=200bp CTATATAACTATATATA - 3_prime_UTR_variant SKCA-BR 5 10435743 10435759 deletion of <=200bp CTATATAACTATATATA - downstream_gene_variant SKCA-BR 5 10435743 10435759 deletion of <=200bp CTATATAACTATATATA - intron_variant SKCA-BR 5 10437296 10437296 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 10437296 10437296 single base substitution C T downstream_gene_variant SKCA-BR 5 10437296 10437296 single base substitution C T exon_variant SKCA-BR 5 10438578 10438578 single base substitution A G 3_prime_UTR_variant SKCA-BR 5 10438578 10438578 single base substitution A G downstream_gene_variant SKCM-US 5 10381949 10381949 single base substitution A G exon_variant SKCM-US 5 10381949 10381949 single base substitution A G intron_variant SKCM-US 5 10381949 10381949 single base substitution A G synonymous_variant Q76Q 228A>G SKCM-US 5 10382043 10382043 single base substitution C T exon_variant SKCM-US 5 10382043 10382043 single base substitution C T intron_variant SKCM-US 5 10382043 10382043 single base substitution C T missense_variant P108S 322C>T SKCM-US 5 10382043 10382043 single base substitution C T upstream_gene_variant SKCM-US 5 10390517 10390517 single base substitution G C 3_prime_UTR_variant SKCM-US 5 10390517 10390517 single base substitution G C exon_variant SKCM-US 5 10390517 10390517 single base substitution G C missense_variant V113L 337G>C SKCM-US 5 10390517 10390517 single base substitution G C missense_variant V161L 481G>C SKCM-US 5 10390517 10390517 single base substitution G C missense_variant V56L 166G>C SKCM-US 5 10402676 10402676 single base substitution T C downstream_gene_variant SKCM-US 5 10402676 10402676 single base substitution T C exon_variant SKCM-US 5 10402676 10402676 single base substitution T C missense_variant V280A 839T>C SKCM-US 5 10402676 10402676 single base substitution T C missense_variant V337A 1010T>C SKCM-US 5 10402676 10402676 single base substitution T C missense_variant V385A 1154T>C SKCM-US 5 10402676 10402676 single base substitution T C missense_variant V83A 248T>C SKCM-US 5 10403570 10403570 single base substitution C T downstream_gene_variant SKCM-US 5 10403570 10403570 single base substitution C T exon_variant SKCM-US 5 10403570 10403570 single base substitution C T missense_variant P115S 343C>T SKCM-US 5 10403570 10403570 single base substitution C T missense_variant P312S 934C>T SKCM-US 5 10403570 10403570 single base substitution C T missense_variant P369S 1105C>T SKCM-US 5 10403570 10403570 single base substitution C T missense_variant P417S 1249C>T SKCM-US 5 10405676 10405676 single base substitution C T downstream_gene_variant SKCM-US 5 10405676 10405676 single base substitution C T exon_variant SKCM-US 5 10405676 10405676 single base substitution C T stop_gained R145* 433C>T SKCM-US 5 10405676 10405676 single base substitution C T stop_gained R342* 1024C>T SKCM-US 5 10405676 10405676 single base substitution C T stop_gained R399* 1195C>T SKCM-US 5 10405676 10405676 single base substitution C T stop_gained R447* 1339C>T SKCM-US 5 10405676 10405676 single base substitution C T upstream_gene_variant SKCM-US 5 10405768 10405768 single base substitution C T downstream_gene_variant SKCM-US 5 10405768 10405768 single base substitution C T exon_variant SKCM-US 5 10405768 10405768 single base substitution C T synonymous_variant L175L 525C>T SKCM-US 5 10405768 10405768 single base substitution C T synonymous_variant L372L 1116C>T SKCM-US 5 10405768 10405768 single base substitution C T synonymous_variant L429L 1287C>T SKCM-US 5 10405768 10405768 single base substitution C T synonymous_variant L477L 1431C>T SKCM-US 5 10405768 10405768 single base substitution C T upstream_gene_variant SKCM-US 5 10415637 10415637 single base substitution G A exon_variant SKCM-US 5 10415637 10415637 single base substitution G A synonymous_variant G366G 1098G>A SKCM-US 5 10415637 10415637 single base substitution G A synonymous_variant G563G 1689G>A SKCM-US 5 10415637 10415637 single base substitution G A synonymous_variant G620G 1860G>A SKCM-US 5 10415637 10415637 single base substitution G A synonymous_variant G668G 2004G>A SKCM-US 5 10415637 10415637 single base substitution G A upstream_gene_variant SKCM-US 5 10426508 10426508 single base substitution G A downstream_gene_variant SKCM-US 5 10426508 10426508 single base substitution G A exon_variant SKCM-US 5 10426508 10426508 single base substitution G A missense_variant A492T 1474G>A SKCM-US 5 10426508 10426508 single base substitution G A missense_variant A689T 2065G>A SKCM-US 5 10426508 10426508 single base substitution G A missense_variant A746T 2236G>A SKCM-US 5 10426508 10426508 single base substitution G A missense_variant A794T 2380G>A SKCM-US 5 10426588 10426588 single base substitution C T downstream_gene_variant SKCM-US 5 10426588 10426588 single base substitution C T exon_variant SKCM-US 5 10426588 10426588 single base substitution C T synonymous_variant S518S 1554C>T SKCM-US 5 10426588 10426588 single base substitution C T synonymous_variant S715S 2145C>T SKCM-US 5 10426588 10426588 single base substitution C T synonymous_variant S772S 2316C>T SKCM-US 5 10426588 10426588 single base substitution C T synonymous_variant S820S 2460C>T SKCM-US 5 10426625 10426625 single base substitution C T downstream_gene_variant SKCM-US 5 10426625 10426625 single base substitution C T exon_variant SKCM-US 5 10426625 10426625 single base substitution C T missense_variant P531S 1591C>T SKCM-US 5 10426625 10426625 single base substitution C T missense_variant P728S 2182C>T SKCM-US 5 10426625 10426625 single base substitution C T missense_variant P785S 2353C>T SKCM-US 5 10426625 10426625 single base substitution C T missense_variant P833S 2497C>T SKCM-US 5 10430029 10430029 single base substitution T A exon_variant SKCM-US 5 10430029 10430029 single base substitution T A stop_gained L542* 1625T>A SKCM-US 5 10430029 10430029 single base substitution T A stop_gained L739* 2216T>A SKCM-US 5 10430029 10430029 single base substitution T A stop_gained L796* 2387T>A SKCM-US 5 10430029 10430029 single base substitution T A stop_gained L844* 2531T>A SKCM-US 5 10430029 10430029 single base substitution T A upstream_gene_variant SKCM-US 5 10442315 10442315 single base substitution G A downstream_gene_variant STAD-US 5 10377976 10377976 single base substitution C T exon_variant STAD-US 5 10377976 10377976 single base substitution C T intron_variant STAD-US 5 10377976 10377976 single base substitution C T missense_variant T29I 86C>T STAD-US 5 10391770 10391770 single base substitution G A downstream_gene_variant STAD-US 5 10391770 10391770 single base substitution G A exon_variant STAD-US 5 10391770 10391770 single base substitution G A synonymous_variant E126E 378G>A STAD-US 5 10391770 10391770 single base substitution G A synonymous_variant E183E 549G>A STAD-US 5 10391770 10391770 single base substitution G A synonymous_variant E231E 693G>A STAD-US 5 10397414 10397414 single base substitution T G exon_variant STAD-US 5 10397414 10397414 single base substitution T G missense_variant F186V 556T>G STAD-US 5 10397414 10397414 single base substitution T G missense_variant F243V 727T>G STAD-US 5 10397414 10397414 single base substitution T G missense_variant F291V 871T>G STAD-US 5 10397414 10397414 single base substitution T G upstream_gene_variant STAD-US 5 10402501 10402501 single base substitution G A exon_variant STAD-US 5 10402501 10402501 single base substitution G A synonymous_variant L248L 744G>A STAD-US 5 10402501 10402501 single base substitution G A synonymous_variant L305L 915G>A STAD-US 5 10402501 10402501 single base substitution G A synonymous_variant L353L 1059G>A STAD-US 5 10402501 10402501 single base substitution G A synonymous_variant L51L 153G>A STAD-US 5 10411480 10411480 single base substitution A T exon_variant STAD-US 5 10411480 10411480 single base substitution A T missense_variant E274V 821A>T STAD-US 5 10411480 10411480 single base substitution A T missense_variant E471V 1412A>T STAD-US 5 10411480 10411480 single base substitution A T missense_variant E528V 1583A>T STAD-US 5 10411480 10411480 single base substitution A T missense_variant E576V 1727A>T STAD-US 5 10411480 10411480 single base substitution A T upstream_gene_variant STAD-US 5 10411586 10411586 single base substitution A G exon_variant STAD-US 5 10411586 10411586 single base substitution A G missense_variant I309M 927A>G STAD-US 5 10411586 10411586 single base substitution A G missense_variant I506M 1518A>G STAD-US 5 10411586 10411586 single base substitution A G missense_variant I563M 1689A>G STAD-US 5 10411586 10411586 single base substitution A G missense_variant I611M 1833A>G STAD-US 5 10411586 10411586 single base substitution A G upstream_gene_variant STAD-US 5 10415634 10415634 deletion of <=200bp G - exon_variant STAD-US 5 10415634 10415634 deletion of <=200bp G - frameshift_variant T365 STAD-US 5 10415634 10415634 deletion of <=200bp G - frameshift_variant T562 STAD-US 5 10415634 10415634 deletion of <=200bp G - frameshift_variant T619 STAD-US 5 10415634 10415634 deletion of <=200bp G - frameshift_variant T667 STAD-US 5 10415634 10415634 deletion of <=200bp G - upstream_gene_variant STAD-US 5 10417411 10417411 single base substitution G A exon_variant STAD-US 5 10417411 10417411 single base substitution G A synonymous_variant L424L 1272G>A STAD-US 5 10417411 10417411 single base substitution G A synonymous_variant L621L 1863G>A STAD-US 5 10417411 10417411 single base substitution G A synonymous_variant L678L 2034G>A STAD-US 5 10417411 10417411 single base substitution G A synonymous_variant L726L 2178G>A STAD-US 5 10442330 10442330 single base substitution G A downstream_gene_variant THCA-SA 5 10434643 10434643 single base substitution A G 3_prime_UTR_variant THCA-SA 5 10434643 10434643 single base substitution A G downstream_gene_variant THCA-SA 5 10434643 10434643 single base substitution A G intron_variant THCA-US 5 10390572 10390572 single base substitution C T 3_prime_UTR_variant THCA-US 5 10390572 10390572 single base substitution C T exon_variant THCA-US 5 10390572 10390572 single base substitution C T missense_variant A131V 392C>T THCA-US 5 10390572 10390572 single base substitution C T missense_variant A179V 536C>T THCA-US 5 10390572 10390572 single base substitution C T missense_variant A74V 221C>T THCA-US 5 10414577 10414577 single base substitution A G exon_variant THCA-US 5 10414577 10414577 single base substitution A G synonymous_variant T341T 1023A>G THCA-US 5 10414577 10414577 single base substitution A G synonymous_variant T538T 1614A>G THCA-US 5 10414577 10414577 single base substitution A G synonymous_variant T595T 1785A>G THCA-US 5 10414577 10414577 single base substitution A G synonymous_variant T643T 1929A>G THCA-US 5 10414577 10414577 single base substitution A G upstream_gene_variant UCEC-US 5 10378897 10378897 single base substitution G A exon_variant UCEC-US 5 10378897 10378897 single base substitution G A intron_variant UCEC-US 5 10378897 10378897 single base substitution G A missense_variant R48Q 143G>A UCEC-US 5 10381993 10381993 single base substitution G A exon_variant UCEC-US 5 10381993 10381993 single base substitution G A intron_variant UCEC-US 5 10381993 10381993 single base substitution G A missense_variant R91Q 272G>A UCEC-US 5 10382056 10382056 single base substitution G A intron_variant UCEC-US 5 10382056 10382056 single base substitution G A splice_donor_variant UCEC-US 5 10382056 10382056 single base substitution G A upstream_gene_variant UCEC-US 5 10390556 10390556 single base substitution A G 3_prime_UTR_variant UCEC-US 5 10390556 10390556 single base substitution A G exon_variant UCEC-US 5 10390556 10390556 single base substitution A G missense_variant I126V 376A>G UCEC-US 5 10390556 10390556 single base substitution A G missense_variant I174V 520A>G UCEC-US 5 10390556 10390556 single base substitution A G missense_variant I69V 205A>G UCEC-US 5 10391774 10391774 single base substitution G C downstream_gene_variant UCEC-US 5 10391774 10391774 single base substitution G C exon_variant UCEC-US 5 10391774 10391774 single base substitution G C missense_variant E128Q 382G>C UCEC-US 5 10391774 10391774 single base substitution G C missense_variant E185Q 553G>C UCEC-US 5 10391774 10391774 single base substitution G C missense_variant E233Q 697G>C UCEC-US 5 10391780 10391782 deletion of <=200bp GAC - downstream_gene_variant UCEC-US 5 10391780 10391782 deletion of <=200bp GAC - exon_variant UCEC-US 5 10391780 10391782 deletion of <=200bp GAC - inframe_deletion D130 UCEC-US 5 10391780 10391782 deletion of <=200bp GAC - inframe_deletion D187 UCEC-US 5 10391780 10391782 deletion of <=200bp GAC - inframe_deletion D235 UCEC-US 5 10402205 10402205 single base substitution C T exon_variant UCEC-US 5 10402205 10402205 single base substitution C T missense_variant T231I 692C>T UCEC-US 5 10402205 10402205 single base substitution C T missense_variant T288I 863C>T UCEC-US 5 10402205 10402205 single base substitution C T missense_variant T336I 1007C>T UCEC-US 5 10402205 10402205 single base substitution C T missense_variant T34I 101C>T UCEC-US 5 10402236 10402236 single base substitution A G exon_variant UCEC-US 5 10402236 10402236 single base substitution A G synonymous_variant T241T 723A>G UCEC-US 5 10402236 10402236 single base substitution A G synonymous_variant T298T 894A>G UCEC-US 5 10402236 10402236 single base substitution A G synonymous_variant T346T 1038A>G UCEC-US 5 10402236 10402236 single base substitution A G synonymous_variant T44T 132A>G UCEC-US 5 10403556 10403556 single base substitution G T downstream_gene_variant UCEC-US 5 10403556 10403556 single base substitution G T exon_variant UCEC-US 5 10403556 10403556 single base substitution G T missense_variant S110I 329G>T UCEC-US 5 10403556 10403556 single base substitution G T missense_variant S307I 920G>T UCEC-US 5 10403556 10403556 single base substitution G T missense_variant S364I 1091G>T UCEC-US 5 10403556 10403556 single base substitution G T missense_variant S412I 1235G>T UCEC-US 5 10405703 10405703 single base substitution A T downstream_gene_variant UCEC-US 5 10405703 10405703 single base substitution A T exon_variant UCEC-US 5 10405703 10405703 single base substitution A T missense_variant N154Y 460A>T UCEC-US 5 10405703 10405703 single base substitution A T missense_variant N351Y 1051A>T UCEC-US 5 10405703 10405703 single base substitution A T missense_variant N408Y 1222A>T UCEC-US 5 10405703 10405703 single base substitution A T missense_variant N456Y 1366A>T UCEC-US 5 10405703 10405703 single base substitution A T upstream_gene_variant UCEC-US 5 10405770 10405770 single base substitution G A downstream_gene_variant UCEC-US 5 10405770 10405770 single base substitution G A exon_variant UCEC-US 5 10405770 10405770 single base substitution G A missense_variant R176Q 527G>A UCEC-US 5 10405770 10405770 single base substitution G A missense_variant R373Q 1118G>A UCEC-US 5 10405770 10405770 single base substitution G A missense_variant R430Q 1289G>A UCEC-US 5 10405770 10405770 single base substitution G A missense_variant R478Q 1433G>A UCEC-US 5 10405770 10405770 single base substitution G A upstream_gene_variant UCEC-US 5 10410326 10410326 single base substitution A T exon_variant UCEC-US 5 10410326 10410326 single base substitution A T synonymous_variant G241G 723A>T UCEC-US 5 10410326 10410326 single base substitution A T synonymous_variant G438G 1314A>T UCEC-US 5 10410326 10410326 single base substitution A T synonymous_variant G495G 1485A>T UCEC-US 5 10410326 10410326 single base substitution A T synonymous_variant G543G 1629A>T UCEC-US 5 10410326 10410326 single base substitution A T upstream_gene_variant UCEC-US 5 10410378 10410378 single base substitution G A exon_variant UCEC-US 5 10410378 10410378 single base substitution G A missense_variant G259R 775G>A UCEC-US 5 10410378 10410378 single base substitution G A missense_variant G456R 1366G>A UCEC-US 5 10410378 10410378 single base substitution G A missense_variant G513R 1537G>A UCEC-US 5 10410378 10410378 single base substitution G A missense_variant G561R 1681G>A UCEC-US 5 10410378 10410378 single base substitution G A upstream_gene_variant UCEC-US 5 10414578 10414578 single base substitution T G exon_variant UCEC-US 5 10414578 10414578 single base substitution T G missense_variant L342V 1024T>G UCEC-US 5 10414578 10414578 single base substitution T G missense_variant L539V 1615T>G UCEC-US 5 10414578 10414578 single base substitution T G missense_variant L596V 1786T>G UCEC-US 5 10414578 10414578 single base substitution T G missense_variant L644V 1930T>G UCEC-US 5 10414578 10414578 single base substitution T G upstream_gene_variant UCEC-US 5 10430095 10430095 single base substitution A G exon_variant UCEC-US 5 10430095 10430095 single base substitution A G missense_variant Q564R 1691A>G UCEC-US 5 10430095 10430095 single base substitution A G missense_variant Q761R 2282A>G UCEC-US 5 10430095 10430095 single base substitution A G missense_variant Q818R 2453A>G UCEC-US 5 10430095 10430095 single base substitution A G missense_variant Q866R 2597A>G UCEC-US 5 10430095 10430095 single base substitution A G upstream_gene_variant UCEC-US 5 10433723 10433723 single base substitution G A exon_variant UCEC-US 5 10433723 10433723 single base substitution G A missense_variant R585Q 1754G>A UCEC-US 5 10433723 10433723 single base substitution G A missense_variant R782Q 2345G>A UCEC-US 5 10433723 10433723 single base substitution G A missense_variant R839Q 2516G>A UCEC-US 5 10433723 10433723 single base substitution G A missense_variant R887Q 2660G>A UCEC-US 5 10433723 10433723 single base substitution G A upstream_gene_variant UCEC-US 5 10442411 10442411 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-27-T COSM4467490 c.1492C>T p.P498S Substitution - Missense 5:10407141-10407141 + TCGA-EM-A3O6-01 COSM3373612 c.536C>T p.A179V Substitution - Missense 5:10390460-10390460 + TCGA-BI-A0VR-01 COSM462101 c.55G>A p.E19K Substitution - Missense 5:10377833-10377833 + B66 COSM1753897 c.2569G>A p.V857M Substitution - Missense 5:10429955-10429955 + TCGA-EE-A181-06 COSM735136 c.2460C>T p.S820S Substitution - coding silent 5:10426476-10426476 + TCGA-D8-A147-01 COSM448399 c.1587G>A p.L529L Substitution - coding silent 5:10410172-10410172 + TCGA-EB-A24D-01 COSM3607450 c.1339C>T p.R447* Substitution - Nonsense 5:10405564-10405564 + 8665_CLM COSM5756547 c.185C>T p.T62I Substitution - Missense 5:10378827-10378827 + TCGA-AP-A059-01 COSM1059338 c.1930T>G p.L644V Substitution - Missense 5:10414466-10414466 + Gp5D COSM2990153 c.494A>G p.E165G Substitution - Missense 5:10390418-10390418 + CHC793T COSM4801367 c.1890A>T p.P630P Substitution - coding silent 5:10411531-10411531 + OCC06PT COSM88596 c.808G>A p.E270K Substitution - Missense 5:10394123-10394123 + YULONE COSM5401895 c.2080G>A p.V694M Substitution - Missense 5:10415601-10415601 + HCC66 COSM1619295 c.1979G>A p.R660H Substitution - Missense 5:10415500-10415500 + TCGA-AP-A051-01 COSM1059330 c.1007C>T p.T336I Substitution - Missense 5:10402093-10402093 + TCGA-AP-A0LM-01 COSM1059324 c.143G>A p.R48Q Substitution - Missense 5:10378785-10378785 + TCGA-66-2795-01 COSM735152 c.313G>T p.G105* Substitution - Nonsense 5:10381922-10381922 + HCC2 COSM3661308 c.922C>A p.P308T Substitution - Missense 5:10400792-10400792 + DLD1 COSM2990191 c.2480T>C p.I827T Substitution - Missense 5:10426496-10426496 + TCGA-06-5417-01 COSM3409655 c.389C>G p.P130R Substitution - Missense 5:10387048-10387048 + TCGA-B5-A0K9-01 COSM1059329 c.703_705delGAC p.D235delD Deletion - In frame 5:10391668-10391670 + TCGA-FD-A3SM-01 COSM3776095 c.1162C>G p.L388V Substitution - Missense 5:10402572-10402572 + 466 COSM4437223 c.37C>T p.R13W Substitution - Missense 5:10377815-10377815 + TCGA-33-4583-01 COSM735143 c.1432C>T p.R478* Substitution - Nonsense 5:10405657-10405657 + REC-1 COSM1739137 c.337C>T p.R113C Substitution - Missense 5:10386996-10386996 + PASFXA COSM5005808 c.2108G>A p.R703H Substitution - Missense 5:10415629-10415629 + TARGET-30-PARGUX COSM1286100 c.2244G>T p.R748S Substitution - Missense 5:10417365-10417365 + LS180 COSM2990195 c.2649T>C p.L883L Substitution - coding silent 5:10433600-10433600 + SC_9008 COSM5566980 c.2614C>T p.R872C Substitution - Missense 5:10430000-10430000 + TCGA-HT-7875-01 COSM3975112 c.2413A>T p.I805F Substitution - Missense 5:10426429-10426429 + HCT15 COSM2990191 c.2480T>C p.I827T Substitution - Missense 5:10426496-10426496 + I2L-P19Tb-Tumor-Biopsy COSM5356628 c.2078C>T p.T693M Substitution - Missense 5:10415599-10415599 + TCGA-B0-4815-01 COSM481726 c.2380G>A p.A794T Substitution - Missense 5:10426396-10426396 + PT38 COSM5922449 c.1792C>T p.P598S Substitution - Missense 5:10411433-10411433 + COLO205 COSM2990190 c.2432C>T p.A811V Substitution - Missense 5:10426448-10426448 + RK197_C01 COSM3768077 c.1458C>G p.V486V Substitution - coding silent 5:10407107-10407107 + BD236T COSM3946719 c.2379C>T p.Y793Y Substitution - coding silent 5:10426395-10426395 + TCGA-AP-A0LM-01 COSM1059340 c.2660G>A p.R887Q Substitution - Missense 5:10433611-10433611 + 19M COSM5578949 c.549C>T p.F183F Substitution - coding silent 5:10390473-10390473 + TCGA-AZ-4315-01 COSM1432028 c.148G>T p.E50* Substitution - Nonsense 5:10378790-10378790 + BD223T COSM5496497 c.2711C>T p.P904L Substitution - Missense 5:10433662-10433662 + TCGA-23-1114-01 COSM1328329 c.2043T>G p.G681G Substitution - coding silent 5:10415564-10415564 + TCGA-60-2720-01 COSM735137 c.2208G>C p.G736G Substitution - coding silent 5:10417329-10417329 + TCGA-66-2759-01 COSM735151 c.465T>C p.C155C Substitution - coding silent 5:10390389-10390389 + TCGA-B5-A11N-01 COSM1059334 c.1366A>T p.N456Y Substitution - Missense 5:10405591-10405591 + TCGA-DJ-A2Q6-01 COSM3373613 c.1929A>G p.T643T Substitution - coding silent 5:10414465-10414465 + RK046_C02 COSM1633873 c.2014A>C p.I672L Substitution - Missense 5:10415535-10415535 + TCGA-18-3409-01 COSM735136 c.2460C>T p.S820S Substitution - coding silent 5:10426476-10426476 + Pat_66_A COSM5867007 c.2263C>T p.P755S Substitution - Missense 5:10417384-10417384 + RK057_C01 COSM3702662 c.1198-10T>G p.? Unknown 5:10403397-10403397 + TCGA-BT-A0YX-01 COSM420461 c.1218G>C p.L406L Substitution - coding silent 5:10403427-10403427 + YUKAT COSM5401893 c.633A>G p.P211P Substitution - coding silent 5:10391598-10391598 + TC71 COSM2990194 c.2602C>G p.R868G Substitution - Missense 5:10429988-10429988 + TCGA-D3-A51G-06 COSM3607449 c.1249C>T p.P417S Substitution - Missense 5:10403458-10403458 + 547 COSM5612914 c.1090C>T p.R364C Substitution - Missense 5:10402420-10402420 + TCGA-EE-A3AB-06 COSM3607448 c.1154T>C p.V385A Substitution - Missense 5:10402564-10402564 + TCGA-AP-A0LM-01 COSM1059327 c.520A>G p.I174V Substitution - Missense 5:10390444-10390444 + COLO201 COSM2990190 c.2432C>T p.A811V Substitution - Missense 5:10426448-10426448 + Gp2D COSM4628342 c.159A>G p.E53E Substitution - coding silent 5:10378801-10378801 + PT52 COSM5939386 c.1553+5G>T p.? Unknown 5:10407207-10407207 + B81-1 COSM1753896 c.2469A>T p.V823V Substitution - coding silent 5:10426485-10426485 + TCGA-IR-A3LK-01 COSM4817105 c.55G>C p.E19Q Substitution - Missense 5:10377833-10377833 + 2_RESISTANT COSM1722213 c.2595C>T p.F865F Substitution - coding silent 5:10429981-10429981 + TCGA-D1-A17H-01 COSM1059332 c.1059G>A p.L353L Substitution - coding silent 5:10402389-10402389 + TCGA-BH-A18G-01 COSM5218295 c.2553_2554insT p.L853fs*19 Insertion - Frameshift 5:10429939-10429940 + 2293776 COSM4607874 c.239C>A p.A80D Substitution - Missense 5:10381848-10381848 + B66 COSM1753894 c.315A>T p.G105G Substitution - coding silent 5:10381924-10381924 + S02273 COSM5682073 c.1787C>T p.A596V Substitution - Missense 5:10411428-10411428 + ASHPC_0026_Pa_P COSM4807314 c.366C>T p.S122S Substitution - coding silent 5:10387025-10387025 + TCGA-B0-5703-01 COSM481725 c.1469T>C p.I490T Substitution - Missense 5:10407118-10407118 + TCGA-CA-6717-01 COSM1432029 c.174A>C p.R58S Substitution - Missense 5:10378816-10378816 + TCGA-D3-A1Q4-06 COSM3607452 c.2004G>A p.G668G Substitution - coding silent 5:10415525-10415525 + T2269 COSM4700694 c.2678G>A p.R893Q Substitution - Missense 5:10433629-10433629 + CSCC-40-T COSM4555523 c.657G>T p.G219G Substitution - coding silent 5:10391622-10391622 + XHDG04 COSM4768123 c.2419C>T p.R807C Substitution - Missense 5:10426435-10426435 + TCGA-66-2771-01 COSM735141 c.1682G>C p.G561A Substitution - Missense 5:10410267-10410267 + 6948_PT COSM5756548 c.367G>A p.V123M Substitution - Missense 5:10387026-10387026 + TCGA-CC-A7II-01 COSM4937639 c.1294G>T p.V432F Substitution - Missense 5:10403503-10403503 + LUAD-RT-S01774 COSM381553 c.2672A>G p.Y891C Substitution - Missense 5:10433623-10433623 + I2L-P19Tb-Tumor-Organoid COSM5356628 c.2078C>T p.T693M Substitution - Missense 5:10415599-10415599 + TCGA-AR-A251-01 COSM1486195 c.838C>G p.L280V Substitution - Missense 5:10394762-10394762 + HCC57 COSM1619294 c.1346G>A p.G449D Substitution - Missense 5:10405571-10405571 + TCGA-B5-A11E-01 COSM1059335 c.1433G>A p.R478Q Substitution - Missense 5:10405658-10405658 + S02299 COSM5690723 c.861+1G>T p.? Unknown 5:10394786-10394786 + TCGA-EE-A2MR-06 COSM3918427 c.322C>T p.P108S Substitution - Missense 5:10381931-10381931 + TCGA-C5-A1M6-01 COSM4826710 c.2263C>G p.P755A Substitution - Missense 5:10417384-10417384 + TCGA-DK-A1AB-01 COSM420462 c.721G>A p.D241N Substitution - Missense 5:10391686-10391686 + YUMEZ COSM5401894 c.1871G>A p.R624H Substitution - Missense 5:10411512-10411512 + 480 COSM4439181 c.504C>T p.V168V Substitution - coding silent 5:10390428-10390428 + B70-Tumor COSM1753895 c.1703C>T p.S568F Substitution - Missense 5:10411344-10411344 + Pat_41_B COSM5867006 c.795G>A p.W265* Substitution - Nonsense 5:10394110-10394110 + S00501 COSM312753 c.216G>A p.R72R Substitution - coding silent 5:10381825-10381825 + S00933 COSM312754 c.359C>T p.T120I Substitution - Missense 5:10387018-10387018 + HCT8 COSM2990191 c.2480T>C p.I827T Substitution - Missense 5:10426496-10426496 + TCGA-A5-A0GB-01 COSM1059326 c.334+1G>A p.? Unknown 5:10381944-10381944 + TCGA-CD-A4MG-01 COSM4126992 c.2178G>A p.L726L Substitution - coding silent 5:10417299-10417299 + 6115122 COSM5566890 c.2420G>A p.R807H Substitution - Missense 5:10426436-10426436 + TCGA-A4-8098-01 COSM3993886 c.1847G>A p.G616E Substitution - Missense 5:10411488-10411488 + MO_1184 COSM5557524 c.2545A>G p.I849V Substitution - Missense 5:10429931-10429931 + CLL104 COSM1291993 c.1550A>G p.Y517C Substitution - Missense 5:10407199-10407199 + TCGA-DK-A1A5-01 COSM420463 c.709G>C p.E237Q Substitution - Missense 5:10391674-10391674 + UPCI:SCC090 COSM4600317 c.1007C>G p.T336S Substitution - Missense 5:10402093-10402093 + PT42 COSM5925183 c.2194C>T p.P732S Substitution - Missense 5:10417315-10417315 + B70 COSM1753895 c.1703C>T p.S568F Substitution - Missense 5:10411344-10411344 + TCGA-EE-A181-06 COSM3607444 c.228A>G p.Q76Q Substitution - coding silent 5:10381837-10381837 + TCGA-33-4566-01 COSM735144 c.1392A>T p.P464P Substitution - coding silent 5:10405617-10405617 + PT35 COSM5912262 c.2498C>T p.P833L Substitution - Missense 5:10426514-10426514 + TCGA-AA-A010-01 COSM282672 c.173G>T p.R58I Substitution - Missense 5:10378815-10378815 + T2940 COSM4700692 c.741G>A p.A247A Substitution - coding silent 5:10391706-10391706 + 0125_CRUK_PC_0125_T1_DNA COSM5424113 c.191T>C p.I64T Substitution - Missense 5:10381800-10381800 + HCC11 COSM3661309 c.1968A>G p.V656V Substitution - coding silent 5:10415489-10415489 + B66-Tumor COSM1753894 c.315A>T p.G105G Substitution - coding silent 5:10381924-10381924 + S00933 COSM312754 c.359C>T p.T120I Substitution - Missense 5:10387018-10387018 + Pat_53_B COSM5566890 c.2420G>A p.R807H Substitution - Missense 5:10426436-10426436 + PA285 COSM1163376 c.2176C>T p.L726L Substitution - coding silent 5:10417297-10417297 + TCGA-22-5478-01 COSM735142 c.1663G>T p.A555S Substitution - Missense 5:10410248-10410248 + sysucc-1317T COSM2990169 c.1660C>T p.R554* Substitution - Nonsense 5:10410245-10410245 + T578 COSM1059324 c.143G>A p.R48Q Substitution - Missense 5:10378785-10378785 + TCGA-HU-A4GH-01 COSM4126989 c.871T>G p.F291V Substitution - Missense 5:10397302-10397302 + TCGA-BR-8591-01 COSM4126988 c.693G>A p.E231E Substitution - coding silent 5:10391658-10391658 + TCGA-FS-A1ZE-06 COSM3607453 c.2531T>A p.L844* Substitution - Nonsense 5:10429917-10429917 + TCGA-CD-A48C-01 COSM4126986 c.86C>T p.T29I Substitution - Missense 5:10377864-10377864 + TCGA-AZ-6601-01 COSM1432032 c.1872C>T p.R624R Substitution - coding silent 5:10411513-10411513 + CoCM-1 COSM4621175 c.2544G>A p.R848R Substitution - coding silent 5:10429930-10429930 + TCGA-06-6700-01 COSM3409656 c.822G>A p.W274* Substitution - Nonsense 5:10394137-10394137 + TCGA-BR-8483-01 COSM1059332 c.1059G>A p.L353L Substitution - coding silent 5:10402389-10402389 + 134427 COSM325767 c.1070T>C p.V357A Substitution - Missense 5:10402400-10402400 + B66-Tumor COSM1753897 c.2569G>A p.V857M Substitution - Missense 5:10429955-10429955 + MEL-Ma-Mel-55 COSM1167730 c.694_695delGA p.E232fs*5 Deletion - Frameshift 5:10391659-10391660 + 8016470 COSM3393061 c.723C>T p.D241D Substitution - coding silent 5:10391688-10391688 + Gp2D COSM2990153 c.494A>G p.E165G Substitution - Missense 5:10390418-10390418 + 2_PRE-TREATMENT COSM1722213 c.2595C>T p.F865F Substitution - coding silent 5:10429981-10429981 + TCGA-CD-A4MJ-01 COSM4126991 c.1833A>G p.I611M Substitution - Missense 5:10411474-10411474 + 6948_CLM COSM5756548 c.367G>A p.V123M Substitution - Missense 5:10387026-10387026 + TCGA-60-2725-01 COSM735147 c.1128T>C p.S376S Substitution - coding silent 5:10402538-10402538 + CHC793T COSM4801367 c.1890A>T p.P630P Substitution - coding silent 5:10411531-10411531 + RK001_C01 COSM1633872 c.1261A>G p.M421V Substitution - Missense 5:10403470-10403470 + TCGA-ER-A2NG-06 COSM3607447 c.481G>C p.V161L Substitution - Missense 5:10390405-10390405 + TCGA-DD-A4NN-01 COSM4935255 c.703G>C p.D235H Substitution - Missense 5:10391668-10391668 + TCGA-GN-A266-06 COSM3918428 c.2497C>T p.P833S Substitution - Missense 5:10426513-10426513 + BD109T COSM5500610 c.641A>G p.E214G Substitution - Missense 5:10391606-10391606 + CSCC-27-T COSM4483681 c.2723C>T p.S908F Substitution - Missense 5:10433674-10433674 + TCGA-D1-A15X-01 COSM1059336 c.1629A>T p.G543G Substitution - coding silent 5:10410214-10410214 + pfg277T COSM4749856 c.1118T>C p.V373A Substitution - Missense 5:10402448-10402448 + CSCC-59-T COSM4532298 c.1871G>T p.R624L Substitution - Missense 5:10411512-10411512 + TCGA-AP-A0LM-01 COSM1059333 c.1235G>T p.S412I Substitution - Missense 5:10403444-10403444 + ER_4784 COSM5967038 c.1442T>C p.I481T Substitution - Missense 5:10405667-10405667 + 587376 COSM1059324 c.143G>A p.R48Q Substitution - Missense 5:10378785-10378785 + HCC11T COSM3661309 c.1968A>G p.V656V Substitution - coding silent 5:10415489-10415489 + PD18259a COSM5773904 c.1861C>T p.Q621* Substitution - Nonsense 5:10411502-10411502 + TCGA-D1-A17Q-01 COSM1059337 c.1681G>A p.G561R Substitution - Missense 5:10410266-10410266 + TCGA-21-1071-01 COSM735150 c.734A>G p.E245G Substitution - Missense 5:10391699-10391699 + PCSI_0253_Pa_P_526 COSM4961650 c.2506+5G>A p.? Unknown 5:10426527-10426527 + HCC57T COSM1619294 c.1346G>A p.G449D Substitution - Missense 5:10405571-10405571 + TCGA-43-5668-01 COSM735140 c.1786G>A p.A596T Substitution - Missense 5:10411427-10411427 + ESO-0292 COSM1240802 c.1635G>A p.T545T Substitution - coding silent 5:10410220-10410220 + MedB-1 COSM5621222 c.2103G>T p.Q701H Substitution - Missense 5:10415624-10415624 + TCGA-AP-A0L9-01 COSM1059328 c.697G>C p.E233Q Substitution - Missense 5:10391662-10391662 + SW620 COSM2990173 c.1848G>C p.G616G Substitution - coding silent 5:10411489-10411489 + TCGA-AX-A05Z-01 COSM1059339 c.2597A>G p.Q866R Substitution - Missense 5:10429983-10429983 + T164 COSM307693 c.1075T>C p.F359L Substitution - Missense 5:10402405-10402405 + TCGA-BR-4267-01 COSM4126990 c.1727A>T p.E576V Substitution - Missense 5:10411368-10411368 + RK051_C01 COSM1633874 c.2036C>G p.A679G Substitution - Missense 5:10415557-10415557 + 585210 COSM325768 c.1582G>A p.E528K Substitution - Missense 5:10410167-10410167 + 587222 COSM1214563 c.1775G>A p.R592Q Substitution - Missense 5:10411416-10411416 + 8665_PT COSM5756547 c.185C>T p.T62I Substitution - Missense 5:10378827-10378827 + ATL075 COSM5709418 c.1144G>T p.E382* Substitution - Nonsense 5:10402554-10402554 + TCGA-B5-A11E-01 COSM1059325 c.272G>A p.R91Q Substitution - Missense 5:10381881-10381881 + PT35 COSM3918428 c.2497C>T p.P833S Substitution - Missense 5:10426513-10426513 + TCGA-BH-A1FC-01 COSM1486194 c.468A>C p.A156A Substitution - coding silent 5:10390392-10390392 + pfg181T COSM4749850 c.20A>C p.D7A Substitution - Missense 5:10377798-10377798 + TCGA-CM-5861-01 COSM1432031 c.1180C>T p.L394L Substitution - coding silent 5:10402590-10402590 + TCGA-FW-A3TU-06 COSM481726 c.2380G>A p.A794T Substitution - Missense 5:10426396-10426396 + 103940 COSM96019 c.2604C>G p.R868R Substitution - coding silent 5:10429990-10429990 + HCC2998 COSM2990117 c.57G>T p.E19D Substitution - Missense 5:10377835-10377835 + HCC2T COSM3661308 c.922C>A p.P308T Substitution - Missense 5:10400792-10400792 + Gp5D COSM2990168 c.1572A>G p.E524E Substitution - coding silent 5:10410157-10410157 + XHDG18 COSM4768756 c.1211C>T p.A404V Substitution - Missense 5:10403420-10403420 + CSCC-49-T COSM4478888 c.2276C>T p.P759L Substitution - Missense 5:10417397-10417397 + TCGA-FD-A3NA-01 COSM1310410 c.498G>C p.Q166H Substitution - Missense 5:10390422-10390422 + S00501 COSM312752 c.2283+2T>G p.? Unknown 5:10417406-10417406 + CSCC-62-T COSM4455774 c.892A>G p.T298A Substitution - Missense 5:10397323-10397323 + TARGET-30-PARGUX-01A-01W COSM1286100 c.2244G>T p.R748S Substitution - Missense 5:10417365-10417365 + PD7250a COSM5794404 c.253A>T p.S85C Substitution - Missense 5:10381862-10381862 + TCGA-37-5819-01 COSM735148 c.1008C>T p.T336T Substitution - coding silent 5:10402094-10402094 + 4095_T COSM3946719 c.2379C>T p.Y793Y Substitution - coding silent 5:10426395-10426395 + TCGA-D1-A17Q-01 COSM1059331 c.1038A>G p.T346T Substitution - coding silent 5:10402124-10402124 + TCGA-EE-A3AA-06 COSM3607451 c.1431C>T p.L477L Substitution - coding silent 5:10405656-10405656 + TCGA-21-1077-01 COSM735139 c.1874G>T p.R625L Substitution - Missense 5:10411515-10411515 + T3202 COSM4700693 c.2266_2267insT p.Y758fs*33 Insertion - Frameshift 5:10417387-10417388 + B81-1-Tumor COSM1753896 c.2469A>T p.V823V Substitution - coding silent 5:10426485-10426485 + TCGA-43-2578-01 COSM735145 c.1222G>C p.D408H Substitution - Missense 5:10403431-10403431 + TCGA-66-2756-01 COSM735138 c.1950C>T p.I650I Substitution - coding silent 5:10414486-10414486 + PD18728a COSM5793674 c.493G>C p.E165Q Substitution - Missense 5:10390417-10390417 + LPJ023 COSM1315923 c.2413A>G p.I805V Substitution - Missense 5:10426429-10426429 + TCGA-CC-A7IJ-01 COSM4924507 c.2065A>G p.I689V Substitution - Missense 5:10415586-10415586 + S00501 COSM312753 c.216G>A p.R72R Substitution - coding silent 5:10381825-10381825 + TCGA-DD-A4NI-01 COSM4926250 c.1215T>A p.T405T Substitution - coding silent 5:10403424-10403424 + 587222 COSM735140 c.1786G>A p.A596T Substitution - Missense 5:10411427-10411427 + TCGA-F5-6814-01 COSM3428805 c.1621G>A p.E541K Substitution - Missense 5:10410206-10410206 + TCGA-AY-6197-01 COSM1432030 c.583G>A p.A195T Substitution - Missense 5:10391548-10391548 + 2521249 COSM5887883 c.2459C>T p.S820F Substitution - Missense 5:10426475-10426475 + GC_315T-GC_315N COSM4773775 c.859C>A p.L287M Substitution - Missense 5:10394783-10394783 + HCC66T COSM1619295 c.1979G>A p.R660H Substitution - Missense 5:10415500-10415500 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.432862 5p15.2 613297

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I672L c.2014A>C 5 10415647 HC A C Synonymous p.A156A c.468A>C 5 10390504 BRCA A G Missense p.E245G c.734A>G 5 10391811 LUSC A G Missense p.I689V c.2065A>G 5 10415698 HNSC A G Missense p.M421V c.1261A>G 5 10403582 HC A G Missense p.Y431C c.1292A>G 5 10403613 LUAD A G Missense p.Y517C c.1550A>G 5 10407311 CLL A G Synonymous p.Q76Q c.228A>G 5 10381949 CM A G Synonymous p.T643T c.1929A>G 5 10414577 THCA A T Missense p.E576V c.1727A>T 5 10411480 STAD A T Missense p.I75F c.223A>T 5 10381944 LUAD A T SpliceAcceptorSNV . c.1897-2A>T 5 10414543 HNSC CG AT Missense p.R72M c.214_215delinsAT 5 10381935 CM C G Missense p.A679G c.2036C>G 5 10415669 HC C G Missense p.L272V c.814C>G 5 10394241 MM C G Missense p.L280V c.838C>G 5 10394874 BRCA C G Missense p.P130R c.389C>G 5 10387160 GBM C G Missense p.P781R c.2342C>G 5 10423905 STAD C T Missense p.A179V c.536C>T 5 10390572 THCA C T Missense p.R807C c.2419C>T 5 10426547 LUAD C T Missense p.S664L c.1991C>T 5 10415624 BRCA C T Missense p.S900L c.2699C>T 5 10433762 HNSC C T Missense p.T120I c.359C>T 5 10387130 SCLC C T Nonsense p.R447* c.1339C>T 5 10405676 CM C T Nonsense p.R478* c.1432C>T 5 10405769 LUSC C T Synonymous p.I650I c.1950C>T 5 10414598 LUSC C T Synonymous p.L477L c.1431C>T 5 10405768 CM C T Synonymous p.L715L c.2145C>T 5 10415778 LUAD C T Synonymous p.L735L c.2203C>T 5 10417436 LUAD C T Synonymous p.S820S c.2460C>T 5 10426588 CM C T Synonymous p.T336T c.1008C>T 5 10402206 LUSC C T Synonymous p.V450V c.1350C>T 5 10405687 HNSC GAC - InFrameDeletion p.D235delD c.703_705delGAC 5 10391780 UCEC GA - Frameshift p.E232Gfs*5 c.695_696delAG 5 10391771 CM G A Missense p.A596T c.1786G>A 5 10411539 LUSC G A Missense p.D241N c.721G>A 5 10391798 BLCA G A Missense p.D519N c.1555G>A 5 10410252 LUAD G A Missense p.E528K c.1582G>A 5 10410279 SCLC G A Missense p.R632K c.1895G>A 5 10411648 LUAD G A Nonsense p.W274* c.822G>A 5 10394249 GBM G A SpliceDonorSNV . c.1452+1G>A 5 10405790 HNSC G A SpliceDonorSNV . c.334+1G>A 5 10382056 UCEC G A Synonymous p.G668G c.2004G>A 5 10415637 CM G A Synonymous p.L493L c.1479G>A 5 10407240 HNSC G A Synonymous p.L529L c.1587G>A 5 10410284 BRCA G A Synonymous p.R72R c.216G>A 5 10381937 SCLC G C Missense p.D408H c.1222G>C 5 10403543 LUSC G C Missense p.E233Q c.697G>C 5 10391774 UCEC G C Missense p.E237Q c.709G>C 5 10391786 BLCA G C Missense p.G561A c.1682G>C 5 10410379 LUSC G C Missense p.G766A c.2297G>C 5 10423860 HNSC G C Missense p.Q166H c.498G>C 5 10390534 BLCA G C Missense p.V161L c.481G>C 5 10390517 CM G C Synonymous p.G736G c.2208G>C 5 10417441 LUSC G C Synonymous p.L406L c.1218G>C 5 10403539 BLCA GG TT MultiAAMissense p.L104_G105delinsF* c.312_313delinsTT 5 10382033 CM G T Missense p.A555S c.1663G>T 5 10410360 LUSC G T Missense p.R625L c.1874G>T 5 10411627 LUSC G T Missense p.R748S c.2244G>T 5 10417477 NB G T Nonsense p.G105* c.313G>T 5 10382034 LUSC G T SpliceDonorSNV . c.2373+1G>T 5 10423937 LUAD T A Nonsense p.L844* c.2531T>A 5 10430029 CM T C Missense p.I490T c.1469T>C 5 10407230 RCCC T C Missense p.V357A c.1070T>C 5 10402512 SCLC T C Missense p.V385A c.1154T>C 5 10402676 CM T C Synonymous p.C155C c.465T>C 5 10390501 LUSC T C Synonymous p.S376S c.1128T>C 5 10402650 LUSC - T Frameshift p.G766Wfs*25 c.2295dupT 5 10423857 GBM T G SpliceDonorSNV . c.2283+2T>G 5 10417518 SCLC - T IntronicInsertion . c.2148+80dupT 5 10415851 ESCA - TT IntronicInsertion . c.577-79_577-78dupTT 5 10391549 CM