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 12 6965239 6965239 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr12:6965239G>A c.363G>A c.(361-363)aaG>aaA p.K121K BLCA 12 6967703 6967703 + Missense_Mutation SNP G G A TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr12:6967703G>A c.980G>A c.(979-981)gGc>gAc p.G327D BLCA 12 6968694 6968694 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:6968694C>T c.1119C>T c.(1117-1119)ttC>ttT p.F373F BLCA 12 6972521 6972521 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr12:6972521C>G c.1934C>G c.(1933-1935)cCt>cGt p.P645R BLCA 12 6973255 6973287 + In_Frame_Del DEL GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT c.(2140-2172)ggctccacaagcgcagcagccgacccccctcctdel p.GSTSAAADPPP714del BLCA 12 6973993 6973993 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:6973993C>T c.2352C>T c.(2350-2352)atC>atT p.I784I BRCA 12 6961446 6961446 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr12:6961446G>A c.103G>A c.(103-105)Gac>Aac p.D35N BRCA 12 6964624 6964624 + Silent SNP T T C TCGA-A2-A4S0-01A-21D-A25Q-09 TCGA-A2-A4S0-10A-01D-A25Q-09 g.chr12:6964624T>C c.171T>C c.(169-171)taT>taC p.Y57Y BRCA 12 6964674 6964674 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 g.chr12:6964674G>A c.221G>A c.(220-222)cGg>cAg p.R74Q BRCA 12 6965602 6965602 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:6965602G>A c.572G>A c.(571-573)cGa>cAa p.R191Q BRCA 12 6967614 6967614 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr12:6967614G>C c.891G>C c.(889-891)gaG>gaC p.E297D BRCA 12 6970210 6970210 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:6970210A>C c.1438A>C c.(1438-1440)Acc>Ccc p.T480P BRCA 12 6971685 6971685 + Missense_Mutation SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 g.chr12:6971685G>T c.1725G>T c.(1723-1725)aaG>aaT p.K575N BRCA 12 6972518 6972518 + Frame_Shift_Del DEL C C - TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 g.chr12:6972518delC c.1931delC c.(1930-1932)tccfs p.S644fs COAD 12 6961371 6961371 + Silent SNP C C T TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr12:6961371C>T c.28C>T c.(28-30)Ctg>Ttg p.L10L COAD 12 6964648 6964648 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:6964648C>T c.195C>T c.(193-195)acC>acT p.T65T COAD 12 6964655 6964655 + Nonsense_Mutation SNP C C T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr12:6964655C>T c.202C>T c.(202-204)Cga>Tga p.R68* COAD 12 6965312 6965312 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:6965312C>T c.436C>T c.(436-438)Cgg>Tgg p.R146W COAD 12 6965602 6965602 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:6965602G>A c.572G>A c.(571-573)cGa>cAa p.R191Q COAD 12 6969540 6969540 + Missense_Mutation SNP A A C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr12:6969540A>C c.1229A>C c.(1228-1230)gAt>gCt p.D410A COAD 12 6969543 6969543 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:6969543G>A c.1232G>A c.(1231-1233)gGc>gAc p.G411D COAD 12 6970156 6970156 + Missense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr12:6970156C>T c.1384C>T c.(1384-1386)Cgc>Tgc p.R462C COAD 12 6970186 6970186 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:6970186C>A c.1414C>A c.(1414-1416)Ctg>Atg p.L472M COAD 12 6971663 6971663 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:6971663A>G c.1703A>G c.(1702-1704)tAc>tGc p.Y568C COAD 12 6972378 6972378 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:6972378C>T c.1791C>T c.(1789-1791)ctC>ctT p.L597L COAD 12 6974348 6974348 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:6974348A>G c.2419A>G c.(2419-2421)Att>Gtt p.I807V COADREAD 12 6961371 6961371 + Silent SNP C C T TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr12:6961371C>T c.28C>T c.(28-30)Ctg>Ttg p.L10L COADREAD 12 6964648 6964648 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:6964648C>T c.195C>T c.(193-195)acC>acT p.T65T COADREAD 12 6964655 6964655 + Nonsense_Mutation SNP C C T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr12:6964655C>T c.202C>T c.(202-204)Cga>Tga p.R68* COADREAD 12 6965312 6965312 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:6965312C>T c.436C>T c.(436-438)Cgg>Tgg p.R146W COADREAD 12 6965602 6965602 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:6965602G>A c.572G>A c.(571-573)cGa>cAa p.R191Q COADREAD 12 6969540 6969540 + Missense_Mutation SNP A A C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr12:6969540A>C c.1229A>C c.(1228-1230)gAt>gCt p.D410A COADREAD 12 6969543 6969543 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:6969543G>A c.1232G>A c.(1231-1233)gGc>gAc p.G411D COADREAD 12 6970156 6970156 + Missense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr12:6970156C>T c.1384C>T c.(1384-1386)Cgc>Tgc p.R462C COADREAD 12 6970161 6970161 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:6970161C>A c.1389C>A c.(1387-1389)ttC>ttA p.F463L COADREAD 12 6970186 6970186 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:6970186C>A c.1414C>A c.(1414-1416)Ctg>Atg p.L472M COADREAD 12 6971663 6971663 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:6971663A>G c.1703A>G c.(1702-1704)tAc>tGc p.Y568C COADREAD 12 6972378 6972378 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:6972378C>T c.1791C>T c.(1789-1791)ctC>ctT p.L597L COADREAD 12 6974348 6974348 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:6974348A>G c.2419A>G c.(2419-2421)Att>Gtt p.I807V ESCA 12 6965536 6965536 + Nonsense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr12:6965536G>A c.506G>A c.(505-507)tGg>tAg p.W169* ESCA 12 6968681 6968681 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr12:6968681C>T c.1106C>T c.(1105-1107)cCt>cTt p.P369L ESCA 12 6970267 6970267 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr12:6970267A>G c.1495A>G c.(1495-1497)Aaa>Gaa p.K499E ESCA 12 6973255 6973255 + Missense_Mutation SNP G G T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr12:6973255G>T c.2140G>T c.(2140-2142)Ggc>Tgc p.G714C ESCA 12 6975191 6975191 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr12:6975191C>T c.2527C>T c.(2527-2529)Ccg>Tcg p.P843S GBMLGG 12 6970648 6970650 + In_Frame_Del DEL GAG GAG - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr12:6970648_6970650delGAG c.1540_1542delGAG c.(1540-1542)gagdel p.E515del HNSC 12 6965611 6965611 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:6965611C>T c.581C>T c.(580-582)cCc>cTc p.P194L HNSC 12 6966015 6966015 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr12:6966015G>A c.729G>A c.(727-729)ccG>ccA p.P243P HNSC 12 6970649 6970649 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 g.chr12:6970649A>G c.1541A>G c.(1540-1542)gAg>gGg p.E514G HNSC 12 6970679 6970679 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 g.chr12:6970679G>A c.1571G>A c.(1570-1572)cGg>cAg p.R524Q HNSC 12 6972476 6972481 + In_Frame_Del DEL GCCTTG GCCTTG - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr12:6972476_6972481delGCCTTG c.1889_1894delGCCTTG c.(1888-1896)agccttggt>agt p.LG631del HNSC 12 6972528 6972528 + Silent SNP C C T TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr12:6972528C>T c.1941C>T c.(1939-1941)ttC>ttT p.F647F HNSC 12 6973918 6973918 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:6973918C>T c.2277C>T c.(2275-2277)atC>atT p.I759I HNSC 12 6975200 6975200 + Missense_Mutation SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr12:6975200G>A c.2536G>A c.(2536-2538)Gac>Aac p.D846N KIPAN 12 6968684 6968684 + Missense_Mutation SNP C C T TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr12:6968684C>T c.1109C>T c.(1108-1110)aCc>aTc p.T370I KIPAN 12 6969582 6969582 + Missense_Mutation SNP G G A TCGA-B0-5402-01A-01D-1501-10 TCGA-B0-5402-11A-01D-1501-10 g.chr12:6969582G>A c.1271G>A c.(1270-1272)gGc>gAc p.G424D KIPAN 12 6974373 6974374 + Frame_Shift_Del DEL TG TG - TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr12:6974373_6974374delTG c.2444_2445delTG c.(2443-2445)atgfs p.M815fs KIRC 12 6969582 6969582 + Missense_Mutation SNP G G A TCGA-B0-5402-01A-01D-1501-10 TCGA-B0-5402-11A-01D-1501-10 g.chr12:6969582G>A c.1271G>A c.(1270-1272)gGc>gAc p.G424D KIRP 12 6968684 6968684 + Missense_Mutation SNP C C T TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr12:6968684C>T c.1109C>T c.(1108-1110)aCc>aTc p.T370I KIRP 12 6974373 6974374 + Frame_Shift_Del DEL TG TG - TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr12:6974373_6974374delTG c.2444_2445delTG c.(2443-2445)atgfs p.M815fs LGG 12 6970648 6970650 + In_Frame_Del DEL GAG GAG - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr12:6970648_6970650delGAG c.1540_1542delGAG c.(1540-1542)gagdel p.E515del LIHC 12 6961443 6961443 + Missense_Mutation SNP T T G TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr12:6961443T>G c.100T>G c.(100-102)Ttc>Gtc p.F34V LIHC 12 6968664 6968664 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr12:6968664G>T c.1089G>T c.(1087-1089)caG>caT p.Q363H LIHC 12 6972521 6972521 + Missense_Mutation SNP C C T TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr12:6972521C>T c.1934C>T c.(1933-1935)cCt>cTt p.P645L LIHC 12 6973284 6973284 + Silent SNP T T G TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr12:6973284T>G c.2169T>G c.(2167-2169)ccT>ccG p.P723P LIHC 12 6974387 6974387 + Missense_Mutation SNP G G A TCGA-DD-A1E9-01A-21D-A152-10 TCGA-DD-A1E9-11A-11D-A152-10 g.chr12:6974387G>A c.2458G>A c.(2458-2460)Gtc>Atc p.V820I LUAD 12 6964572 6964573 + Frame_Shift_Ins INS - - G TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr12:6964572_6964573insG c.119_120insG c.(118-123)gaggggfs p.EG40fs LUAD 12 6965198 6965198 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr12:6965198G>T c.322G>T c.(322-324)Gac>Tac p.D108Y LUAD 12 6965212 6965212 + Missense_Mutation SNP G G C TCGA-86-8671-01A-11D-2393-08 TCGA-86-8671-10A-01D-2393-08 g.chr12:6965212G>C c.336G>C c.(334-336)gaG>gaC p.E112D LUAD 12 6965284 6965284 + Silent SNP G G T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr12:6965284G>T c.408G>T c.(406-408)ctG>ctT p.L136L LUAD 12 6965537 6965537 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr12:6965537G>T c.507G>T c.(505-507)tgG>tgT p.W169C LUAD 12 6965877 6965877 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr12:6965877G>T c.591G>T c.(589-591)tgG>tgT p.W197C LUAD 12 6965958 6965958 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr12:6965958C>T c.672C>T c.(670-672)ttC>ttT p.F224F LUAD 12 6969609 6969609 + Missense_Mutation SNP A A T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:6969609A>T c.1298A>T c.(1297-1299)cAg>cTg p.Q433L LUAD 12 6970680 6970680 + Silent SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr12:6970680G>T c.1572G>T c.(1570-1572)cgG>cgT p.R524R LUAD 12 6971651 6971651 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:6971651C>T c.1691C>T c.(1690-1692)tCa>tTa p.S564L LUAD 12 6973060 6973060 + Missense_Mutation SNP G G A TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr12:6973060G>A c.2021G>A c.(2020-2022)cGc>cAc p.R674H LUSC 12 6964980 6964980 + Missense_Mutation SNP C C T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr12:6964980C>T c.299C>T c.(298-300)gCt>gTt p.A100V LUSC 12 6965209 6965209 + Silent SNP G G A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr12:6965209G>A c.333G>A c.(331-333)gaG>gaA p.E111E LUSC 12 6969353 6969353 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:6969353C>T c.1169C>T c.(1168-1170)tCc>tTc p.S390F PAAD 12 6970156 6970156 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr12:6970156C>A c.1384C>A c.(1384-1386)Cgc>Agc p.R462S PAAD 12 6970246 6970246 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 g.chr12:6970246C>T c.1474C>T c.(1474-1476)Ccc>Tcc p.P492S PAAD 12 6970734 6970734 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6970734C>T c.1626C>T c.(1624-1626)gtC>gtT p.V542V PRAD 12 6964975 6964975 + Silent SNP G G A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 g.chr12:6964975G>A c.294G>A c.(292-294)cgG>cgA p.R98R PRAD 12 6967709 6967709 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:6967709G>A c.986G>A c.(985-987)cGg>cAg p.R329Q READ 12 6970161 6970161 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:6970161C>A c.1389C>A c.(1387-1389)ttC>ttA p.F463L SKCM 12 6964919 6964919 + Splice_Site SNP A A G TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:6964919A>G c.238A>G c.(238-240)Aaa>Gaa p.K80E SKCM 12 6965272 6965272 + Silent SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr12:6965272C>T c.396C>T c.(394-396)gcC>gcT p.A132A SKCM 12 6965958 6965958 + Silent SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:6965958C>T c.672C>T c.(670-672)ttC>ttT p.F224F SKCM 12 6966849 6966849 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:6966849C>T c.826C>T c.(826-828)Ctg>Ttg p.L276L SKCM 12 6968686 6968686 + Nonsense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr12:6968686C>T c.1111C>T c.(1111-1113)Cag>Tag p.Q371* SKCM 12 6969551 6969551 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr12:6969551C>T c.1240C>T c.(1240-1242)Cct>Tct p.P414S SKCM 12 6969552 6969552 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr12:6969552C>T c.1241C>T c.(1240-1242)cCt>cTt p.P414L SKCM 12 6972453 6972453 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:6972453C>T c.1866C>T c.(1864-1866)gtC>gtT p.V622V SKCM 12 6972504 6972504 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr12:6972504A>T c.1917A>T c.(1915-1917)gaA>gaT p.E639D SKCM 12 6972535 6972535 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr12:6972535C>T c.1948C>T c.(1948-1950)Ccg>Tcg p.P650S SKCM 12 6972536 6972536 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr12:6972536C>T c.1949C>T c.(1948-1950)cCg>cTg p.P650L SKCM 12 6973281 6973281 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:6973281C>T c.2166C>T c.(2164-2166)ccC>ccT p.P722P SKCM 12 6975183 6975183 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:6975183C>T c.2519C>T c.(2518-2520)tCc>tTc p.S840F SKCM 12 6975226 6975226 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr12:6975226G>A c.2562G>A c.(2560-2562)caG>caA p.Q854Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 6964621 6964621 single base substitution G T missense_variant Q56H 168G>T BLCA-CN 12 6964621 6964621 single base substitution G T upstream_gene_variant BLCA-CN 12 6970735 6970735 single base substitution G A downstream_gene_variant BLCA-CN 12 6970735 6970735 single base substitution G A exon_variant BLCA-CN 12 6970735 6970735 single base substitution G A missense_variant D543N 1627G>A BLCA-CN 12 6970735 6970735 single base substitution G A upstream_gene_variant BLCA-CN 12 6973228 6973228 single base substitution C T downstream_gene_variant BLCA-CN 12 6973228 6973228 single base substitution C T exon_variant BLCA-CN 12 6973228 6973228 single base substitution C T missense_variant L682F 2044C>T BLCA-CN 12 6973228 6973228 single base substitution C T missense_variant L705F 2113C>T BLCA-CN 12 6974348 6974348 single base substitution A G downstream_gene_variant BLCA-CN 12 6974348 6974348 single base substitution A G exon_variant BLCA-CN 12 6974348 6974348 single base substitution A G missense_variant I784V 2350A>G BLCA-CN 12 6974348 6974348 single base substitution A G missense_variant I807V 2419A>G BLCA-US 12 6958994 6958994 single base substitution C T upstream_gene_variant BLCA-US 12 6959647 6959647 single base substitution C T upstream_gene_variant BLCA-US 12 6973255 6973287 deletion of <=200bp GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - downstream_gene_variant BLCA-US 12 6973255 6973287 deletion of <=200bp GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - exon_variant BLCA-US 12 6973255 6973287 deletion of <=200bp GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - inframe_deletion GSTSAAADPPP691 BLCA-US 12 6973255 6973287 deletion of <=200bp GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - inframe_deletion GSTSAAADPPP714 BRCA-EU 12 6957247 6957247 single base substitution C T upstream_gene_variant BRCA-EU 12 6957784 6957784 single base substitution G C upstream_gene_variant BRCA-EU 12 6958174 6958174 single base substitution C A upstream_gene_variant BRCA-EU 12 6959444 6959444 single base substitution C T upstream_gene_variant BRCA-EU 12 6960377 6960377 single base substitution A T upstream_gene_variant BRCA-EU 12 6960586 6960586 single base substitution T G upstream_gene_variant BRCA-EU 12 6961357 6961357 single base substitution G C missense_variant S5T 14G>C BRCA-EU 12 6961357 6961357 single base substitution G C upstream_gene_variant BRCA-EU 12 6963388 6963388 single base substitution G T intron_variant BRCA-EU 12 6963388 6963388 single base substitution G T upstream_gene_variant BRCA-EU 12 6963929 6963929 single base substitution T A intron_variant BRCA-EU 12 6963929 6963929 single base substitution T A upstream_gene_variant BRCA-EU 12 6965135 6965135 single base substitution C T intron_variant BRCA-EU 12 6965135 6965135 single base substitution C T upstream_gene_variant BRCA-EU 12 6966234 6966234 single base substitution G C intron_variant BRCA-EU 12 6966234 6966234 single base substitution G C upstream_gene_variant BRCA-EU 12 6967674 6967674 single base substitution C G exon_variant BRCA-EU 12 6967674 6967674 single base substitution C G intron_variant BRCA-EU 12 6967674 6967674 single base substitution C G synonymous_variant L317L 951C>G BRCA-EU 12 6967674 6967674 single base substitution C G upstream_gene_variant BRCA-EU 12 6968527 6968527 single base substitution C G downstream_gene_variant BRCA-EU 12 6968527 6968527 single base substitution C G intron_variant BRCA-EU 12 6968527 6968527 single base substitution C G upstream_gene_variant BRCA-EU 12 6969770 6969770 single base substitution C T downstream_gene_variant BRCA-EU 12 6969770 6969770 single base substitution C T intron_variant BRCA-EU 12 6969770 6969770 single base substitution C T upstream_gene_variant BRCA-EU 12 6970855 6970855 single base substitution C G downstream_gene_variant BRCA-EU 12 6970855 6970855 single base substitution C G intron_variant BRCA-EU 12 6970855 6970855 single base substitution C G upstream_gene_variant BRCA-EU 12 6971552 6971552 single base substitution A G downstream_gene_variant BRCA-EU 12 6971552 6971552 single base substitution A G intron_variant BRCA-EU 12 6971552 6971552 single base substitution A G upstream_gene_variant BRCA-EU 12 6972239 6972239 single base substitution A T downstream_gene_variant BRCA-EU 12 6972239 6972239 single base substitution A T intron_variant BRCA-EU 12 6972239 6972239 single base substitution A T upstream_gene_variant BRCA-EU 12 6973721 6973721 single base substitution T C downstream_gene_variant BRCA-EU 12 6973721 6973721 single base substitution T C intron_variant BRCA-EU 12 6973766 6973766 single base substitution A T downstream_gene_variant BRCA-EU 12 6973766 6973766 single base substitution A T intron_variant BRCA-EU 12 6973776 6973776 single base substitution C T downstream_gene_variant BRCA-EU 12 6973776 6973776 single base substitution C T intron_variant BRCA-EU 12 6974314 6974314 single base substitution C T downstream_gene_variant BRCA-EU 12 6974314 6974314 single base substitution C T intron_variant BRCA-EU 12 6974367 6974367 single base substitution C G downstream_gene_variant BRCA-EU 12 6974367 6974367 single base substitution C G exon_variant BRCA-EU 12 6974367 6974367 single base substitution C G missense_variant S790C 2369C>G BRCA-EU 12 6974367 6974367 single base substitution C G missense_variant S813C 2438C>G BRCA-EU 12 6975346 6975346 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 6975346 6975346 single base substitution C T downstream_gene_variant BRCA-EU 12 6975346 6975346 single base substitution C T exon_variant BRCA-EU 12 6975416 6975416 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 6975416 6975416 single base substitution G A downstream_gene_variant BRCA-EU 12 6975416 6975416 single base substitution G A exon_variant BRCA-EU 12 6975453 6975453 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 6975453 6975453 single base substitution G C downstream_gene_variant BRCA-EU 12 6975453 6975453 single base substitution G C exon_variant BRCA-EU 12 6976142 6976142 single base substitution G A downstream_gene_variant BRCA-EU 12 6976405 6976405 single base substitution A C downstream_gene_variant BRCA-EU 12 6977211 6977211 single base substitution C T downstream_gene_variant BRCA-EU 12 6977812 6977812 single base substitution G T downstream_gene_variant BRCA-EU 12 6977841 6977841 single base substitution C T downstream_gene_variant BRCA-EU 12 6979508 6979508 single base substitution C T downstream_gene_variant BRCA-EU 12 6980394 6980398 deletion of <=200bp AGGGC - downstream_gene_variant BRCA-EU 12 6980752 6980752 single base substitution G C downstream_gene_variant BRCA-FR 12 6966234 6966234 single base substitution G C intron_variant BRCA-FR 12 6966234 6966234 single base substitution G C upstream_gene_variant BRCA-FR 12 6976142 6976142 single base substitution G A downstream_gene_variant BRCA-US 12 6958719 6958719 single base substitution G T upstream_gene_variant BRCA-US 12 6958758 6958758 single base substitution G A upstream_gene_variant BRCA-US 12 6961446 6961446 single base substitution G A missense_variant D35N 103G>A BRCA-US 12 6961446 6961446 single base substitution G A upstream_gene_variant BRCA-US 12 6964624 6964624 single base substitution T C synonymous_variant Y57Y 171T>C BRCA-US 12 6964624 6964624 single base substitution T C upstream_gene_variant BRCA-US 12 6964674 6964674 single base substitution G A missense_variant R74Q 221G>A BRCA-US 12 6964674 6964674 single base substitution G A upstream_gene_variant BRCA-US 12 6965602 6965602 single base substitution G A intron_variant BRCA-US 12 6965602 6965602 single base substitution G A missense_variant R191Q 572G>A BRCA-US 12 6965602 6965602 single base substitution G A upstream_gene_variant BRCA-US 12 6967614 6967614 single base substitution G C exon_variant BRCA-US 12 6967614 6967614 single base substitution G C intron_variant BRCA-US 12 6967614 6967614 single base substitution G C missense_variant E297D 891G>C BRCA-US 12 6967614 6967614 single base substitution G C upstream_gene_variant BRCA-US 12 6970210 6970210 single base substitution A C downstream_gene_variant BRCA-US 12 6970210 6970210 single base substitution A C exon_variant BRCA-US 12 6970210 6970210 single base substitution A C missense_variant T123P 367A>C BRCA-US 12 6970210 6970210 single base substitution A C missense_variant T480P 1438A>C BRCA-US 12 6970210 6970210 single base substitution A C upstream_gene_variant BRCA-US 12 6971685 6971685 single base substitution G T downstream_gene_variant BRCA-US 12 6971685 6971685 single base substitution G T exon_variant BRCA-US 12 6971685 6971685 single base substitution G T missense_variant K575N 1725G>T BRCA-US 12 6971685 6971685 single base substitution G T upstream_gene_variant BRCA-US 12 6972332 6972332 single base substitution G A downstream_gene_variant BRCA-US 12 6972332 6972332 single base substitution G A exon_variant BRCA-US 12 6972332 6972332 single base substitution G A intron_variant BRCA-US 12 6972332 6972332 single base substitution G A upstream_gene_variant BRCA-US 12 6972518 6972518 deletion of <=200bp C - downstream_gene_variant BRCA-US 12 6972518 6972518 deletion of <=200bp C - exon_variant BRCA-US 12 6972518 6972518 deletion of <=200bp C - frameshift_variant S644 BRCA-US 12 6972518 6972518 deletion of <=200bp C - intron_variant BRCA-US 12 6976710 6976710 single base substitution C T downstream_gene_variant BRCA-US 12 6979278 6979278 single base substitution G A downstream_gene_variant BRCA-US 12 6979542 6979542 single base substitution C A downstream_gene_variant BTCA-JP 12 6960141 6960141 single base substitution G A upstream_gene_variant BTCA-JP 12 6969452 6969452 single base substitution G A downstream_gene_variant BTCA-JP 12 6969452 6969452 single base substitution G A intron_variant BTCA-JP 12 6969452 6969452 single base substitution G A upstream_gene_variant BTCA-JP 12 6969555 6969555 single base substitution G A downstream_gene_variant BTCA-JP 12 6969555 6969555 single base substitution G A exon_variant BTCA-JP 12 6969555 6969555 single base substitution G A intron_variant BTCA-JP 12 6969555 6969555 single base substitution G A missense_variant R415Q 1244G>A BTCA-JP 12 6969555 6969555 single base substitution G A upstream_gene_variant BTCA-JP 12 6973039 6973039 single base substitution G A downstream_gene_variant BTCA-JP 12 6973039 6973039 single base substitution G A exon_variant BTCA-JP 12 6973039 6973039 single base substitution G A missense_variant G644E 1931G>A BTCA-JP 12 6973039 6973039 single base substitution G A missense_variant G667E 2000G>A BTCA-JP 12 6979844 6979844 single base substitution G A downstream_gene_variant BTCA-JP 12 6980333 6980333 single base substitution C A downstream_gene_variant CESC-US 12 6958094 6958094 single base substitution G A upstream_gene_variant CESC-US 12 6958994 6958994 single base substitution C G upstream_gene_variant CESC-US 12 6976718 6976718 single base substitution C T downstream_gene_variant COAD-US 12 6964648 6964648 single base substitution C T synonymous_variant T65T 195C>T COAD-US 12 6964648 6964648 single base substitution C T upstream_gene_variant COAD-US 12 6964655 6964655 single base substitution C T stop_gained R68* 202C>T COAD-US 12 6964655 6964655 single base substitution C T upstream_gene_variant COAD-US 12 6965602 6965602 single base substitution G A intron_variant COAD-US 12 6965602 6965602 single base substitution G A missense_variant R191Q 572G>A COAD-US 12 6965602 6965602 single base substitution G A upstream_gene_variant COAD-US 12 6965973 6965973 single base substitution C T intron_variant COAD-US 12 6965973 6965973 single base substitution C T synonymous_variant G229G 687C>T COAD-US 12 6965973 6965973 single base substitution C T upstream_gene_variant COAD-US 12 6969543 6969543 single base substitution G A downstream_gene_variant COAD-US 12 6969543 6969543 single base substitution G A exon_variant COAD-US 12 6969543 6969543 single base substitution G A intron_variant COAD-US 12 6969543 6969543 single base substitution G A missense_variant G411D 1232G>A COAD-US 12 6969543 6969543 single base substitution G A upstream_gene_variant COAD-US 12 6971663 6971663 single base substitution A G downstream_gene_variant COAD-US 12 6971663 6971663 single base substitution A G exon_variant COAD-US 12 6971663 6971663 single base substitution A G missense_variant Y568C 1703A>G COAD-US 12 6971663 6971663 single base substitution A G upstream_gene_variant COAD-US 12 6974348 6974348 single base substitution A G downstream_gene_variant COAD-US 12 6974348 6974348 single base substitution A G exon_variant COAD-US 12 6974348 6974348 single base substitution A G missense_variant I784V 2350A>G COAD-US 12 6974348 6974348 single base substitution A G missense_variant I807V 2419A>G COAD-US 12 6976727 6976727 single base substitution C G downstream_gene_variant COCA-CN 12 6958755 6958755 single base substitution C A upstream_gene_variant COCA-CN 12 6958810 6958810 single base substitution C A upstream_gene_variant COCA-CN 12 6959115 6959115 single base substitution A T upstream_gene_variant COCA-CN 12 6964494 6964494 single base substitution G T intron_variant COCA-CN 12 6964494 6964494 single base substitution G T upstream_gene_variant COCA-CN 12 6965609 6965609 single base substitution T A intron_variant COCA-CN 12 6965609 6965609 single base substitution T A synonymous_variant P193P 579T>A COCA-CN 12 6965609 6965609 single base substitution T A upstream_gene_variant COCA-CN 12 6965721 6965721 single base substitution G A intron_variant COCA-CN 12 6965721 6965721 single base substitution G A upstream_gene_variant COCA-CN 12 6967528 6967528 single base substitution C T intron_variant COCA-CN 12 6967528 6967528 single base substitution C T upstream_gene_variant COCA-CN 12 6970253 6970253 single base substitution A T downstream_gene_variant COCA-CN 12 6970253 6970253 single base substitution A T exon_variant COCA-CN 12 6970253 6970253 single base substitution A T missense_variant D137V 410A>T COCA-CN 12 6970253 6970253 single base substitution A T missense_variant D494V 1481A>T COCA-CN 12 6970253 6970253 single base substitution A T upstream_gene_variant COCA-CN 12 6972360 6972360 single base substitution C T downstream_gene_variant COCA-CN 12 6972360 6972360 single base substitution C T exon_variant COCA-CN 12 6972360 6972360 single base substitution C T synonymous_variant I591I 1773C>T COCA-CN 12 6972360 6972360 single base substitution C T upstream_gene_variant COCA-CN 12 6972495 6972495 single base substitution C T downstream_gene_variant COCA-CN 12 6972495 6972495 single base substitution C T exon_variant COCA-CN 12 6972495 6972495 single base substitution C T intron_variant COCA-CN 12 6972495 6972495 single base substitution C T synonymous_variant N636N 1908C>T COCA-CN 12 6972495 6972495 single base substitution C T upstream_gene_variant COCA-CN 12 6973351 6973351 single base substitution C T downstream_gene_variant COCA-CN 12 6973351 6973351 single base substitution C T exon_variant COCA-CN 12 6973351 6973351 single base substitution C T missense_variant R723W 2167C>T COCA-CN 12 6973351 6973351 single base substitution C T missense_variant R746W 2236C>T COCA-CN 12 6973766 6973766 single base substitution A T downstream_gene_variant COCA-CN 12 6973766 6973766 single base substitution A T intron_variant COCA-CN 12 6978542 6978542 single base substitution A C downstream_gene_variant ESAD-UK 12 6957070 6957070 single base substitution G A upstream_gene_variant ESAD-UK 12 6957604 6957604 single base substitution G A upstream_gene_variant ESAD-UK 12 6961356 6961356 single base substitution A G missense_variant S5G 13A>G ESAD-UK 12 6961356 6961356 single base substitution A G upstream_gene_variant ESAD-UK 12 6962737 6962737 single base substitution A G intron_variant ESAD-UK 12 6962737 6962737 single base substitution A G upstream_gene_variant ESAD-UK 12 6964998 6964998 single base substitution G T intron_variant ESAD-UK 12 6964998 6964998 single base substitution G T upstream_gene_variant ESAD-UK 12 6965094 6965094 single base substitution G A intron_variant ESAD-UK 12 6965094 6965094 single base substitution G A upstream_gene_variant ESAD-UK 12 6968431 6968431 single base substitution C T downstream_gene_variant ESAD-UK 12 6968431 6968431 single base substitution C T intron_variant ESAD-UK 12 6968431 6968431 single base substitution C T upstream_gene_variant ESAD-UK 12 6969334 6969334 single base substitution C T downstream_gene_variant ESAD-UK 12 6969334 6969334 single base substitution C T exon_variant ESAD-UK 12 6969334 6969334 single base substitution C T intron_variant ESAD-UK 12 6969334 6969334 single base substitution C T missense_variant L384F 1150C>T ESAD-UK 12 6969334 6969334 single base substitution C T upstream_gene_variant ESAD-UK 12 6970083 6970083 single base substitution G A downstream_gene_variant ESAD-UK 12 6970083 6970083 single base substitution G A intron_variant ESAD-UK 12 6970083 6970083 single base substitution G A upstream_gene_variant ESAD-UK 12 6970717 6970717 single base substitution G A downstream_gene_variant ESAD-UK 12 6970717 6970717 single base substitution G A exon_variant ESAD-UK 12 6970717 6970717 single base substitution G A missense_variant G537R 1609G>A ESAD-UK 12 6970717 6970717 single base substitution G A upstream_gene_variant ESAD-UK 12 6975442 6975442 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 6975442 6975442 single base substitution G A downstream_gene_variant ESAD-UK 12 6975442 6975442 single base substitution G A exon_variant ESAD-UK 12 6976875 6976880 deletion of <=200bp GGGCCG - downstream_gene_variant ESAD-UK 12 6976999 6976999 single base substitution G A downstream_gene_variant ESAD-UK 12 6980578 6980578 single base substitution C T downstream_gene_variant ESCA-CN 12 6956462 6956462 single base substitution C T upstream_gene_variant ESCA-CN 12 6959682 6959682 single base substitution G A upstream_gene_variant ESCA-CN 12 6976742 6976742 single base substitution C T downstream_gene_variant GBM-US 12 6959664 6959664 single base substitution T C upstream_gene_variant KIRC-US 12 6969582 6969582 single base substitution G A downstream_gene_variant KIRC-US 12 6969582 6969582 single base substitution G A exon_variant KIRC-US 12 6969582 6969582 single base substitution G A intron_variant KIRC-US 12 6969582 6969582 single base substitution G A missense_variant G424D 1271G>A KIRC-US 12 6969582 6969582 single base substitution G A upstream_gene_variant KIRC-US 12 6978057 6978057 single base substitution A G downstream_gene_variant KIRC-US 12 6979622 6979622 single base substitution C T downstream_gene_variant KIRP-US 12 6968684 6968684 single base substitution C T downstream_gene_variant KIRP-US 12 6968684 6968684 single base substitution C T exon_variant KIRP-US 12 6968684 6968684 single base substitution C T intron_variant KIRP-US 12 6968684 6968684 single base substitution C T missense_variant T370I 1109C>T KIRP-US 12 6968684 6968684 single base substitution C T upstream_gene_variant KIRP-US 12 6974373 6974374 deletion of <=200bp TG - downstream_gene_variant KIRP-US 12 6974373 6974374 deletion of <=200bp TG - exon_variant KIRP-US 12 6974373 6974374 deletion of <=200bp TG - frameshift_variant M792 KIRP-US 12 6974373 6974374 deletion of <=200bp TG - frameshift_variant M815 KIRP-US 12 6976718 6976718 single base substitution C T downstream_gene_variant KIRP-US 12 6976722 6976722 single base substitution T C downstream_gene_variant LAML-KR 12 6965740 6965740 single base substitution C A intron_variant LAML-KR 12 6965740 6965740 single base substitution C A upstream_gene_variant LAML-KR 12 6979006 6979006 single base substitution A G downstream_gene_variant LICA-CN 12 6958769 6958769 single base substitution G A upstream_gene_variant LICA-CN 12 6971699 6971699 single base substitution T G downstream_gene_variant LICA-CN 12 6971699 6971699 single base substitution T G exon_variant LICA-CN 12 6971699 6971699 single base substitution T G stop_gained L580* 1739T>G LICA-CN 12 6971699 6971699 single base substitution T G upstream_gene_variant LICA-CN 12 6975157 6975157 single base substitution C G downstream_gene_variant LICA-CN 12 6975157 6975157 single base substitution C G exon_variant LICA-CN 12 6975157 6975157 single base substitution C G missense_variant I808M 2424C>G LICA-CN 12 6975157 6975157 single base substitution C G missense_variant I831M 2493C>G LICA-FR 12 6965575 6965575 single base substitution G A intron_variant LICA-FR 12 6965575 6965575 single base substitution G A missense_variant S182N 545G>A LICA-FR 12 6965575 6965575 single base substitution G A upstream_gene_variant LICA-FR 12 6968652 6968652 single base substitution G A downstream_gene_variant LICA-FR 12 6968652 6968652 single base substitution G A exon_variant LICA-FR 12 6968652 6968652 single base substitution G A intron_variant LICA-FR 12 6968652 6968652 single base substitution G A synonymous_variant E359E 1077G>A LICA-FR 12 6968652 6968652 single base substitution G A upstream_gene_variant LICA-FR 12 6970779 6970779 single base substitution C T downstream_gene_variant LICA-FR 12 6970779 6970779 single base substitution C T splice_region_variant LICA-FR 12 6970779 6970779 single base substitution C T upstream_gene_variant LICA-FR 12 6976702 6976702 single base substitution C T downstream_gene_variant LIHC-US 12 6970233 6970233 single base substitution G A downstream_gene_variant LIHC-US 12 6970233 6970233 single base substitution G A exon_variant LIHC-US 12 6970233 6970233 single base substitution G A missense_variant M130I 390G>A LIHC-US 12 6970233 6970233 single base substitution G A missense_variant M487I 1461G>A LIHC-US 12 6970233 6970233 single base substitution G A upstream_gene_variant LIHC-US 12 6973284 6973284 single base substitution T G downstream_gene_variant LIHC-US 12 6973284 6973284 single base substitution T G exon_variant LIHC-US 12 6973284 6973284 single base substitution T G synonymous_variant P700P 2100T>G LIHC-US 12 6973284 6973284 single base substitution T G synonymous_variant P723P 2169T>G LIHC-US 12 6974028 6974028 single base substitution A T downstream_gene_variant LIHC-US 12 6974028 6974028 single base substitution A T exon_variant LIHC-US 12 6974028 6974028 single base substitution A T missense_variant D773V 2318A>T LIHC-US 12 6974028 6974028 single base substitution A T missense_variant D796V 2387A>T LIHC-US 12 6974387 6974387 single base substitution G A downstream_gene_variant LIHC-US 12 6974387 6974387 single base substitution G A exon_variant LIHC-US 12 6974387 6974387 single base substitution G A missense_variant V797I 2389G>A LIHC-US 12 6974387 6974387 single base substitution G A missense_variant V820I 2458G>A LINC-JP 12 6958874 6958874 single base substitution C T upstream_gene_variant LINC-JP 12 6965007 6965009 deletion of <=200bp TTC - intron_variant LINC-JP 12 6965007 6965009 deletion of <=200bp TTC - upstream_gene_variant LINC-JP 12 6966967 6966967 single base substitution G T intron_variant LINC-JP 12 6966967 6966967 single base substitution G T upstream_gene_variant LINC-JP 12 6969394 6969394 single base substitution G T downstream_gene_variant LINC-JP 12 6969394 6969394 single base substitution G T exon_variant LINC-JP 12 6969394 6969394 single base substitution G T intron_variant LINC-JP 12 6969394 6969394 single base substitution G T stop_gained E404* 1210G>T LINC-JP 12 6969394 6969394 single base substitution G T upstream_gene_variant LINC-JP 12 6978213 6978213 single base substitution A G downstream_gene_variant LINC-JP 12 6979669 6979669 single base substitution T G downstream_gene_variant LINC-JP 12 6980076 6980076 deletion of <=200bp A - downstream_gene_variant LIRI-JP 12 6958216 6958216 single base substitution C T upstream_gene_variant LIRI-JP 12 6964313 6964313 single base substitution G A intron_variant LIRI-JP 12 6964313 6964313 single base substitution G A upstream_gene_variant LIRI-JP 12 6965074 6965074 single base substitution T G intron_variant LIRI-JP 12 6965074 6965074 single base substitution T G upstream_gene_variant LIRI-JP 12 6967440 6967440 single base substitution C T intron_variant LIRI-JP 12 6967440 6967440 single base substitution C T upstream_gene_variant LIRI-JP 12 6967517 6967517 single base substitution C A intron_variant LIRI-JP 12 6967517 6967517 single base substitution C A upstream_gene_variant LIRI-JP 12 6969442 6969442 single base substitution T C downstream_gene_variant LIRI-JP 12 6969442 6969442 single base substitution T C intron_variant LIRI-JP 12 6969442 6969442 single base substitution T C upstream_gene_variant LIRI-JP 12 6969861 6969861 single base substitution G A downstream_gene_variant LIRI-JP 12 6969861 6969861 single base substitution G A intron_variant LIRI-JP 12 6969861 6969861 single base substitution G A upstream_gene_variant LIRI-JP 12 6970102 6970102 single base substitution G T downstream_gene_variant LIRI-JP 12 6970102 6970102 single base substitution G T intron_variant LIRI-JP 12 6970102 6970102 single base substitution G T upstream_gene_variant LIRI-JP 12 6971069 6971069 single base substitution G A downstream_gene_variant LIRI-JP 12 6971069 6971069 single base substitution G A intron_variant LIRI-JP 12 6971069 6971069 single base substitution G A upstream_gene_variant LIRI-JP 12 6972348 6972348 single base substitution A C downstream_gene_variant LIRI-JP 12 6972348 6972348 single base substitution A C exon_variant LIRI-JP 12 6972348 6972348 single base substitution A C splice_acceptor_variant LIRI-JP 12 6972348 6972348 single base substitution A C upstream_gene_variant LIRI-JP 12 6973648 6973648 single base substitution T A downstream_gene_variant LIRI-JP 12 6973648 6973648 single base substitution T A intron_variant LIRI-JP 12 6973984 6973984 single base substitution C G downstream_gene_variant LIRI-JP 12 6973984 6973984 single base substitution C G exon_variant LIRI-JP 12 6973984 6973984 single base substitution C G synonymous_variant A758A 2274C>G LIRI-JP 12 6973984 6973984 single base substitution C G synonymous_variant A781A 2343C>G LIRI-JP 12 6974462 6974462 single base substitution G A downstream_gene_variant LIRI-JP 12 6974462 6974462 single base substitution G A intron_variant LIRI-JP 12 6977651 6977651 single base substitution A G downstream_gene_variant LIRI-JP 12 6980607 6980607 single base substitution A G downstream_gene_variant LUSC-KR 12 6956462 6956462 single base substitution C T upstream_gene_variant LUSC-KR 12 6958491 6958491 single base substitution C T upstream_gene_variant LUSC-KR 12 6959969 6959969 single base substitution C G upstream_gene_variant LUSC-KR 12 6961658 6961658 single base substitution T G intron_variant LUSC-KR 12 6961658 6961658 single base substitution T G upstream_gene_variant LUSC-KR 12 6969731 6969731 single base substitution A G downstream_gene_variant LUSC-KR 12 6969731 6969731 single base substitution A G intron_variant LUSC-KR 12 6969731 6969731 single base substitution A G upstream_gene_variant LUSC-KR 12 6975106 6975106 single base substitution G T downstream_gene_variant LUSC-KR 12 6975106 6975106 single base substitution G T intron_variant LUSC-KR 12 6975107 6975107 single base substitution C G downstream_gene_variant LUSC-KR 12 6975107 6975107 single base substitution C G intron_variant LUSC-KR 12 6975501 6975501 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 6975501 6975501 single base substitution G A downstream_gene_variant LUSC-KR 12 6975501 6975501 single base substitution G A exon_variant LUSC-KR 12 6976191 6976191 single base substitution T C downstream_gene_variant LUSC-KR 12 6977201 6977201 single base substitution G A downstream_gene_variant LUSC-KR 12 6979010 6979010 single base substitution G A downstream_gene_variant LUSC-KR 12 6979521 6979521 single base substitution G A downstream_gene_variant LUSC-US 12 6964980 6964980 single base substitution C T missense_variant A100V 299C>T LUSC-US 12 6964980 6964980 single base substitution C T upstream_gene_variant LUSC-US 12 6965209 6965209 single base substitution G A synonymous_variant E111E 333G>A LUSC-US 12 6965209 6965209 single base substitution G A upstream_gene_variant LUSC-US 12 6969353 6969353 single base substitution C T downstream_gene_variant LUSC-US 12 6969353 6969353 single base substitution C T exon_variant LUSC-US 12 6969353 6969353 single base substitution C T intron_variant LUSC-US 12 6969353 6969353 single base substitution C T missense_variant S390F 1169C>T LUSC-US 12 6969353 6969353 single base substitution C T upstream_gene_variant LUSC-US 12 6976808 6976808 single base substitution C T downstream_gene_variant LUSC-US 12 6978455 6978455 single base substitution G C downstream_gene_variant LUSC-US 12 6979288 6979288 single base substitution A G downstream_gene_variant LUSC-US 12 6979488 6979488 single base substitution C T downstream_gene_variant MALY-DE 12 6961384 6961384 single base substitution C T missense_variant P14L 41C>T MALY-DE 12 6961384 6961384 single base substitution C T upstream_gene_variant MALY-DE 12 6975423 6975423 single base substitution T C 3_prime_UTR_variant MALY-DE 12 6975423 6975423 single base substitution T C downstream_gene_variant MALY-DE 12 6975423 6975423 single base substitution T C exon_variant MALY-DE 12 6975424 6975424 single base substitution C T 3_prime_UTR_variant MALY-DE 12 6975424 6975424 single base substitution C T downstream_gene_variant MALY-DE 12 6975424 6975424 single base substitution C T exon_variant MALY-DE 12 6977515 6977515 single base substitution C T downstream_gene_variant MELA-AU 12 6956476 6956476 single base substitution C T upstream_gene_variant MELA-AU 12 6958703 6958703 single base substitution C T upstream_gene_variant MELA-AU 12 6959146 6959146 single base substitution G A upstream_gene_variant MELA-AU 12 6959157 6959157 single base substitution G A upstream_gene_variant MELA-AU 12 6959159 6959159 single base substitution A G upstream_gene_variant MELA-AU 12 6959832 6959832 single base substitution G A upstream_gene_variant MELA-AU 12 6959886 6959886 single base substitution G A upstream_gene_variant MELA-AU 12 6960283 6960283 single base substitution C T upstream_gene_variant MELA-AU 12 6960462 6960462 single base substitution C T upstream_gene_variant MELA-AU 12 6960504 6960504 single base substitution C T upstream_gene_variant MELA-AU 12 6961109 6961109 single base substitution G A upstream_gene_variant MELA-AU 12 6961546 6961546 single base substitution C T intron_variant MELA-AU 12 6961546 6961546 single base substitution C T upstream_gene_variant MELA-AU 12 6961660 6961660 single base substitution C T intron_variant MELA-AU 12 6961660 6961660 single base substitution C T upstream_gene_variant MELA-AU 12 6961711 6961711 single base substitution C T intron_variant MELA-AU 12 6961711 6961711 single base substitution C T upstream_gene_variant MELA-AU 12 6962158 6962158 single base substitution G A intron_variant MELA-AU 12 6962158 6962158 single base substitution G A upstream_gene_variant MELA-AU 12 6963200 6963200 single base substitution C T intron_variant MELA-AU 12 6963200 6963200 single base substitution C T upstream_gene_variant MELA-AU 12 6963495 6963495 single base substitution C T intron_variant MELA-AU 12 6963495 6963495 single base substitution C T upstream_gene_variant MELA-AU 12 6963849 6963850 deletion of <=200bp GA - intron_variant MELA-AU 12 6963849 6963850 deletion of <=200bp GA - upstream_gene_variant MELA-AU 12 6964821 6964821 single base substitution C T intron_variant MELA-AU 12 6964821 6964821 single base substitution C T upstream_gene_variant MELA-AU 12 6964861 6964861 single base substitution C T intron_variant MELA-AU 12 6964861 6964861 single base substitution C T upstream_gene_variant MELA-AU 12 6964919 6964919 single base substitution A G missense_variant K80E 238A>G MELA-AU 12 6964919 6964919 single base substitution A G upstream_gene_variant MELA-AU 12 6965607 6965607 single base substitution C T intron_variant MELA-AU 12 6965607 6965607 single base substitution C T missense_variant P193S 577C>T MELA-AU 12 6965607 6965607 single base substitution C T upstream_gene_variant MELA-AU 12 6965610 6965610 single base substitution C T intron_variant MELA-AU 12 6965610 6965610 single base substitution C T missense_variant P194S 580C>T MELA-AU 12 6965610 6965610 single base substitution C T upstream_gene_variant MELA-AU 12 6965637 6965637 single base substitution C T intron_variant MELA-AU 12 6965637 6965637 single base substitution C T upstream_gene_variant MELA-AU 12 6965797 6965797 single base substitution C T intron_variant MELA-AU 12 6965797 6965797 single base substitution C T upstream_gene_variant MELA-AU 12 6966524 6966524 single base substitution C T intron_variant MELA-AU 12 6966524 6966524 single base substitution C T upstream_gene_variant MELA-AU 12 6966965 6966965 single base substitution A G intron_variant MELA-AU 12 6966965 6966965 single base substitution A G upstream_gene_variant MELA-AU 12 6968145 6968145 single base substitution C T downstream_gene_variant MELA-AU 12 6968145 6968145 single base substitution C T intron_variant MELA-AU 12 6968145 6968145 single base substitution C T upstream_gene_variant MELA-AU 12 6968362 6968362 single base substitution C T downstream_gene_variant MELA-AU 12 6968362 6968362 single base substitution C T intron_variant MELA-AU 12 6968362 6968362 single base substitution C T upstream_gene_variant MELA-AU 12 6968597 6968598 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 6968597 6968598 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 6968597 6968598 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 6968764 6968764 single base substitution C T downstream_gene_variant MELA-AU 12 6968764 6968764 single base substitution C T intron_variant MELA-AU 12 6968764 6968764 single base substitution C T upstream_gene_variant MELA-AU 12 6969064 6969064 single base substitution C T downstream_gene_variant MELA-AU 12 6969064 6969064 single base substitution C T intron_variant MELA-AU 12 6969064 6969064 single base substitution C T upstream_gene_variant MELA-AU 12 6969193 6969194 multiple base substitution (>=2bp and <=200bp) AA GT downstream_gene_variant MELA-AU 12 6969193 6969194 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 12 6969193 6969194 multiple base substitution (>=2bp and <=200bp) AA GT upstream_gene_variant MELA-AU 12 6969930 6969930 single base substitution C T downstream_gene_variant MELA-AU 12 6969930 6969930 single base substitution C T intron_variant MELA-AU 12 6969930 6969930 single base substitution C T upstream_gene_variant MELA-AU 12 6970054 6970054 single base substitution C T downstream_gene_variant MELA-AU 12 6970054 6970054 single base substitution C T intron_variant MELA-AU 12 6970054 6970054 single base substitution C T upstream_gene_variant MELA-AU 12 6970093 6970093 single base substitution C T downstream_gene_variant MELA-AU 12 6970093 6970093 single base substitution C T intron_variant MELA-AU 12 6970093 6970093 single base substitution C T upstream_gene_variant MELA-AU 12 6970580 6970580 single base substitution G A downstream_gene_variant MELA-AU 12 6970580 6970580 single base substitution G A intron_variant MELA-AU 12 6970580 6970580 single base substitution G A upstream_gene_variant MELA-AU 12 6970584 6970584 single base substitution C T downstream_gene_variant MELA-AU 12 6970584 6970584 single base substitution C T intron_variant MELA-AU 12 6970584 6970584 single base substitution C T upstream_gene_variant MELA-AU 12 6970692 6970692 single base substitution C T downstream_gene_variant MELA-AU 12 6970692 6970692 single base substitution C T exon_variant MELA-AU 12 6970692 6970692 single base substitution C T synonymous_variant P528P 1584C>T MELA-AU 12 6970692 6970692 single base substitution C T upstream_gene_variant MELA-AU 12 6971099 6971100 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 6971099 6971100 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 6971099 6971100 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 6971289 6971289 single base substitution C T downstream_gene_variant MELA-AU 12 6971289 6971289 single base substitution C T intron_variant MELA-AU 12 6971289 6971289 single base substitution C T upstream_gene_variant MELA-AU 12 6971409 6971409 single base substitution C A downstream_gene_variant MELA-AU 12 6971409 6971409 single base substitution C A intron_variant MELA-AU 12 6971409 6971409 single base substitution C A upstream_gene_variant MELA-AU 12 6971629 6971629 single base substitution C T downstream_gene_variant MELA-AU 12 6971629 6971629 single base substitution C T splice_region_variant MELA-AU 12 6971629 6971629 single base substitution C T upstream_gene_variant MELA-AU 12 6972216 6972217 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 6972216 6972217 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 6972216 6972217 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 6972299 6972299 single base substitution C T downstream_gene_variant MELA-AU 12 6972299 6972299 single base substitution C T intron_variant MELA-AU 12 6972299 6972299 single base substitution C T upstream_gene_variant MELA-AU 12 6972415 6972415 single base substitution G A downstream_gene_variant MELA-AU 12 6972415 6972415 single base substitution G A exon_variant MELA-AU 12 6972415 6972415 single base substitution G A missense_variant G610R 1828G>A MELA-AU 12 6972415 6972415 single base substitution G A upstream_gene_variant MELA-AU 12 6972504 6972504 single base substitution A T downstream_gene_variant MELA-AU 12 6972504 6972504 single base substitution A T exon_variant MELA-AU 12 6972504 6972504 single base substitution A T intron_variant MELA-AU 12 6972504 6972504 single base substitution A T missense_variant E639D 1917A>T MELA-AU 12 6972639 6972639 single base substitution C T downstream_gene_variant MELA-AU 12 6972639 6972639 single base substitution C T intron_variant MELA-AU 12 6972652 6972652 single base substitution C T downstream_gene_variant MELA-AU 12 6972652 6972652 single base substitution C T intron_variant MELA-AU 12 6973580 6973580 single base substitution G A downstream_gene_variant MELA-AU 12 6973580 6973580 single base substitution G A intron_variant MELA-AU 12 6973728 6973728 single base substitution C T downstream_gene_variant MELA-AU 12 6973728 6973728 single base substitution C T intron_variant MELA-AU 12 6974101 6974101 single base substitution C T downstream_gene_variant MELA-AU 12 6974101 6974101 single base substitution C T intron_variant MELA-AU 12 6974912 6974912 single base substitution C T downstream_gene_variant MELA-AU 12 6974912 6974912 single base substitution C T intron_variant MELA-AU 12 6975134 6975134 single base substitution C T downstream_gene_variant MELA-AU 12 6975134 6975134 single base substitution C T intron_variant MELA-AU 12 6975565 6975565 single base substitution C T 3_prime_UTR_variant MELA-AU 12 6975565 6975565 single base substitution C T downstream_gene_variant MELA-AU 12 6975565 6975565 single base substitution C T exon_variant MELA-AU 12 6975852 6975852 single base substitution G A downstream_gene_variant MELA-AU 12 6976607 6976607 single base substitution G A downstream_gene_variant MELA-AU 12 6976940 6976940 single base substitution C G downstream_gene_variant MELA-AU 12 6977112 6977112 single base substitution C T downstream_gene_variant MELA-AU 12 6977522 6977522 single base substitution C T downstream_gene_variant MELA-AU 12 6977713 6977713 single base substitution C T downstream_gene_variant MELA-AU 12 6977861 6977861 single base substitution C T downstream_gene_variant MELA-AU 12 6979487 6979487 single base substitution C T downstream_gene_variant ORCA-IN 12 6964868 6964868 single base substitution G T intron_variant ORCA-IN 12 6964868 6964868 single base substitution G T upstream_gene_variant OV-AU 12 6956730 6956730 single base substitution G T upstream_gene_variant OV-AU 12 6959906 6959906 single base substitution G A upstream_gene_variant OV-AU 12 6960623 6960623 single base substitution G T upstream_gene_variant OV-AU 12 6961646 6961646 single base substitution C G intron_variant OV-AU 12 6961646 6961646 single base substitution C G upstream_gene_variant OV-AU 12 6963887 6963887 single base substitution A C intron_variant OV-AU 12 6963887 6963887 single base substitution A C upstream_gene_variant OV-AU 12 6963980 6963980 single base substitution C G intron_variant OV-AU 12 6963980 6963980 single base substitution C G upstream_gene_variant OV-AU 12 6966512 6966512 single base substitution C G intron_variant OV-AU 12 6966512 6966512 single base substitution C G upstream_gene_variant OV-AU 12 6978630 6978630 single base substitution C T downstream_gene_variant PACA-AU 12 6965095 6965095 single base substitution A G intron_variant PACA-AU 12 6965095 6965095 single base substitution A G upstream_gene_variant PACA-AU 12 6967503 6967503 single base substitution T C intron_variant PACA-AU 12 6967503 6967503 single base substitution T C upstream_gene_variant PACA-AU 12 6968676 6968676 single base substitution G A downstream_gene_variant PACA-AU 12 6968676 6968676 single base substitution G A exon_variant PACA-AU 12 6968676 6968676 single base substitution G A intron_variant PACA-AU 12 6968676 6968676 single base substitution G A synonymous_variant T367T 1101G>A PACA-AU 12 6968676 6968676 single base substitution G A upstream_gene_variant PACA-AU 12 6968974 6968974 single base substitution G A downstream_gene_variant PACA-AU 12 6968974 6968974 single base substitution G A intron_variant PACA-AU 12 6968974 6968974 single base substitution G A upstream_gene_variant PACA-AU 12 6973952 6973952 single base substitution G A downstream_gene_variant PACA-AU 12 6973952 6973952 single base substitution G A exon_variant PACA-AU 12 6973952 6973952 single base substitution G A missense_variant A748T 2242G>A PACA-AU 12 6973952 6973952 single base substitution G A missense_variant A771T 2311G>A PACA-CA 12 6956619 6956621 deletion of <=200bp GCA - upstream_gene_variant PACA-CA 12 6956732 6956732 single base substitution G A upstream_gene_variant PACA-CA 12 6966631 6966631 single base substitution G A exon_variant PACA-CA 12 6966631 6966631 single base substitution G A intron_variant PACA-CA 12 6966631 6966631 single base substitution G A upstream_gene_variant PACA-CA 12 6967844 6967844 single base substitution C T exon_variant PACA-CA 12 6967844 6967844 single base substitution C T intron_variant PACA-CA 12 6967844 6967844 single base substitution C T upstream_gene_variant PACA-CA 12 6974168 6974168 single base substitution A C downstream_gene_variant PACA-CA 12 6974168 6974168 single base substitution A C intron_variant PACA-CA 12 6974782 6974782 deletion of <=200bp G - downstream_gene_variant PACA-CA 12 6974782 6974782 deletion of <=200bp G - intron_variant PACA-CA 12 6980266 6980266 single base substitution A G downstream_gene_variant PACA-CA 12 6980289 6980289 single base substitution G A downstream_gene_variant PBCA-DE 12 6960627 6960627 single base substitution C T upstream_gene_variant PBCA-DE 12 6977736 6977736 single base substitution G C downstream_gene_variant PRAD-CA 12 6961025 6961025 single base substitution T G upstream_gene_variant PRAD-CA 12 6966737 6966737 single base substitution T G exon_variant PRAD-CA 12 6966737 6966737 single base substitution T G intron_variant PRAD-CA 12 6966737 6966737 single base substitution T G upstream_gene_variant PRAD-CA 12 6980276 6980276 single base substitution C T downstream_gene_variant PRAD-UK 12 6960911 6960943 deletion of <=200bp GTCCCTCGACTTTCCGACCGGACAGGTCCCCAG - upstream_gene_variant PRAD-US 12 6964975 6964975 single base substitution G A synonymous_variant R98R 294G>A PRAD-US 12 6964975 6964975 single base substitution G A upstream_gene_variant RECA-EU 12 6962635 6962635 single base substitution G C intron_variant RECA-EU 12 6962635 6962635 single base substitution G C upstream_gene_variant RECA-EU 12 6978000 6978000 single base substitution T C downstream_gene_variant RECA-EU 12 6980724 6980724 single base substitution T G downstream_gene_variant SKCA-BR 12 6965462 6965462 single base substitution C T intron_variant SKCA-BR 12 6965462 6965462 single base substitution C T splice_region_variant SKCA-BR 12 6965462 6965462 single base substitution C T upstream_gene_variant SKCA-BR 12 6967478 6967478 single base substitution C T intron_variant SKCA-BR 12 6967478 6967478 single base substitution C T upstream_gene_variant SKCA-BR 12 6968513 6968513 single base substitution C T downstream_gene_variant SKCA-BR 12 6968513 6968513 single base substitution C T intron_variant SKCA-BR 12 6968513 6968513 single base substitution C T upstream_gene_variant SKCA-BR 12 6971443 6971443 single base substitution C T downstream_gene_variant SKCA-BR 12 6971443 6971443 single base substitution C T intron_variant SKCA-BR 12 6971443 6971443 single base substitution C T upstream_gene_variant SKCA-BR 12 6972333 6972333 single base substitution T G downstream_gene_variant SKCA-BR 12 6972333 6972333 single base substitution T G exon_variant SKCA-BR 12 6972333 6972333 single base substitution T G intron_variant SKCA-BR 12 6972333 6972333 single base substitution T G upstream_gene_variant SKCA-BR 12 6973873 6973873 single base substitution C T downstream_gene_variant SKCA-BR 12 6973873 6973873 single base substitution C T intron_variant SKCA-BR 12 6975604 6975604 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 6975604 6975604 single base substitution C T downstream_gene_variant SKCA-BR 12 6975604 6975604 single base substitution C T exon_variant SKCA-BR 12 6978441 6978441 single base substitution C T downstream_gene_variant SKCM-US 12 6958754 6958754 single base substitution C T upstream_gene_variant SKCM-US 12 6958788 6958788 single base substitution G A upstream_gene_variant SKCM-US 12 6964919 6964919 single base substitution A G missense_variant K80E 238A>G SKCM-US 12 6964919 6964919 single base substitution A G upstream_gene_variant SKCM-US 12 6965272 6965272 single base substitution C T intron_variant SKCM-US 12 6965272 6965272 single base substitution C T synonymous_variant A132A 396C>T SKCM-US 12 6965272 6965272 single base substitution C T upstream_gene_variant SKCM-US 12 6965611 6965611 single base substitution C T intron_variant SKCM-US 12 6965611 6965611 single base substitution C T missense_variant P194L 581C>T SKCM-US 12 6965611 6965611 single base substitution C T upstream_gene_variant SKCM-US 12 6965958 6965958 single base substitution C T intron_variant SKCM-US 12 6965958 6965958 single base substitution C T synonymous_variant F224F 672C>T SKCM-US 12 6965958 6965958 single base substitution C T upstream_gene_variant SKCM-US 12 6966849 6966849 single base substitution C T exon_variant SKCM-US 12 6966849 6966849 single base substitution C T intron_variant SKCM-US 12 6966849 6966849 single base substitution C T synonymous_variant L276L 826C>T SKCM-US 12 6966849 6966849 single base substitution C T upstream_gene_variant SKCM-US 12 6968686 6968686 single base substitution C T downstream_gene_variant SKCM-US 12 6968686 6968686 single base substitution C T exon_variant SKCM-US 12 6968686 6968686 single base substitution C T intron_variant SKCM-US 12 6968686 6968686 single base substitution C T stop_gained Q371* 1111C>T SKCM-US 12 6968686 6968686 single base substitution C T upstream_gene_variant SKCM-US 12 6972356 6972356 single base substitution C T downstream_gene_variant SKCM-US 12 6972356 6972356 single base substitution C T exon_variant SKCM-US 12 6972356 6972356 single base substitution C T missense_variant S590F 1769C>T SKCM-US 12 6972356 6972356 single base substitution C T upstream_gene_variant SKCM-US 12 6972504 6972504 single base substitution A T downstream_gene_variant SKCM-US 12 6972504 6972504 single base substitution A T exon_variant SKCM-US 12 6972504 6972504 single base substitution A T intron_variant SKCM-US 12 6972504 6972504 single base substitution A T missense_variant E639D 1917A>T SKCM-US 12 6973281 6973281 single base substitution C T downstream_gene_variant SKCM-US 12 6973281 6973281 single base substitution C T exon_variant SKCM-US 12 6973281 6973281 single base substitution C T synonymous_variant P699P 2097C>T SKCM-US 12 6973281 6973281 single base substitution C T synonymous_variant P722P 2166C>T SKCM-US 12 6973921 6973921 single base substitution C T downstream_gene_variant SKCM-US 12 6973921 6973921 single base substitution C T exon_variant SKCM-US 12 6973921 6973921 single base substitution C T synonymous_variant F737F 2211C>T SKCM-US 12 6973921 6973921 single base substitution C T synonymous_variant F760F 2280C>T SKCM-US 12 6975183 6975183 single base substitution C T downstream_gene_variant SKCM-US 12 6975183 6975183 single base substitution C T exon_variant SKCM-US 12 6975183 6975183 single base substitution C T missense_variant S817F 2450C>T SKCM-US 12 6975183 6975183 single base substitution C T missense_variant S840F 2519C>T SKCM-US 12 6975226 6975226 single base substitution G A downstream_gene_variant SKCM-US 12 6975226 6975226 single base substitution G A exon_variant SKCM-US 12 6975226 6975226 single base substitution G A synonymous_variant Q831Q 2493G>A SKCM-US 12 6975226 6975226 single base substitution G A synonymous_variant Q854Q 2562G>A SKCM-US 12 6978873 6978873 single base substitution A C downstream_gene_variant STAD-US 12 6958314 6958314 single base substitution C A upstream_gene_variant STAD-US 12 6958779 6958779 single base substitution C G upstream_gene_variant STAD-US 12 6964600 6964600 single base substitution G A synonymous_variant T49T 147G>A STAD-US 12 6964600 6964600 single base substitution G A upstream_gene_variant STAD-US 12 6964649 6964649 single base substitution G A missense_variant G66S 196G>A STAD-US 12 6964649 6964649 single base substitution G A upstream_gene_variant STAD-US 12 6968673 6968673 single base substitution G A downstream_gene_variant STAD-US 12 6968673 6968673 single base substitution G A exon_variant STAD-US 12 6968673 6968673 single base substitution G A intron_variant STAD-US 12 6968673 6968673 single base substitution G A synonymous_variant P366P 1098G>A STAD-US 12 6968673 6968673 single base substitution G A upstream_gene_variant STAD-US 12 6970249 6970249 single base substitution A G downstream_gene_variant STAD-US 12 6970249 6970249 single base substitution A G exon_variant STAD-US 12 6970249 6970249 single base substitution A G missense_variant M136V 406A>G STAD-US 12 6970249 6970249 single base substitution A G missense_variant M493V 1477A>G STAD-US 12 6970249 6970249 single base substitution A G upstream_gene_variant STAD-US 12 6970756 6970756 single base substitution C A downstream_gene_variant STAD-US 12 6970756 6970756 single base substitution C A exon_variant STAD-US 12 6970756 6970756 single base substitution C A missense_variant L550M 1648C>A STAD-US 12 6970756 6970756 single base substitution C A upstream_gene_variant STAD-US 12 6972488 6972488 single base substitution A G downstream_gene_variant STAD-US 12 6972488 6972488 single base substitution A G exon_variant STAD-US 12 6972488 6972488 single base substitution A G intron_variant STAD-US 12 6972488 6972488 single base substitution A G missense_variant Y634C 1901A>G STAD-US 12 6972488 6972488 single base substitution A G upstream_gene_variant STAD-US 12 6973052 6973052 single base substitution C T downstream_gene_variant STAD-US 12 6973052 6973052 single base substitution C T exon_variant STAD-US 12 6973052 6973052 single base substitution C T synonymous_variant D648D 1944C>T STAD-US 12 6973052 6973052 single base substitution C T synonymous_variant D671D 2013C>T STAD-US 12 6973267 6973267 single base substitution G A downstream_gene_variant STAD-US 12 6973267 6973267 single base substitution G A exon_variant STAD-US 12 6973267 6973267 single base substitution G A missense_variant A695T 2083G>A STAD-US 12 6973267 6973267 single base substitution G A missense_variant A718T 2152G>A STAD-US 12 6973278 6973278 deletion of <=200bp C - downstream_gene_variant STAD-US 12 6973278 6973278 deletion of <=200bp C - exon_variant STAD-US 12 6973278 6973278 deletion of <=200bp C - frameshift_variant D698 STAD-US 12 6973278 6973278 deletion of <=200bp C - frameshift_variant D721 STAD-US 12 6975193 6975193 single base substitution G A downstream_gene_variant STAD-US 12 6975193 6975193 single base substitution G A exon_variant STAD-US 12 6975193 6975193 single base substitution G A synonymous_variant P820P 2460G>A STAD-US 12 6975193 6975193 single base substitution G A synonymous_variant P843P 2529G>A STAD-US 12 6978878 6978878 single base substitution G A downstream_gene_variant THCA-SA 12 6976685 6976685 single base substitution G A downstream_gene_variant THCA-SA 12 6976688 6976688 single base substitution A G downstream_gene_variant THCA-SA 12 6979728 6979728 single base substitution C T downstream_gene_variant THCA-US 12 6960070 6960070 single base substitution G A upstream_gene_variant THCA-US 12 6964920 6964920 single base substitution A G missense_variant K80R 239A>G THCA-US 12 6964920 6964920 single base substitution A G upstream_gene_variant UCEC-US 12 6958492 6958492 single base substitution G A upstream_gene_variant UCEC-US 12 6958584 6958584 single base substitution C T upstream_gene_variant UCEC-US 12 6958831 6958831 single base substitution G C upstream_gene_variant UCEC-US 12 6959719 6959719 single base substitution T C upstream_gene_variant UCEC-US 12 6964599 6964599 single base substitution C T missense_variant T49M 146C>T UCEC-US 12 6964599 6964599 single base substitution C T upstream_gene_variant UCEC-US 12 6965952 6965952 single base substitution C T intron_variant UCEC-US 12 6965952 6965952 single base substitution C T synonymous_variant R222R 666C>T UCEC-US 12 6965952 6965952 single base substitution C T upstream_gene_variant UCEC-US 12 6966801 6966801 single base substitution T G exon_variant UCEC-US 12 6966801 6966801 single base substitution T G intron_variant UCEC-US 12 6966801 6966801 single base substitution T G missense_variant S260A 778T>G UCEC-US 12 6966801 6966801 single base substitution T G upstream_gene_variant UCEC-US 12 6966812 6966812 single base substitution G T exon_variant UCEC-US 12 6966812 6966812 single base substitution G T intron_variant UCEC-US 12 6966812 6966812 single base substitution G T missense_variant E263D 789G>T UCEC-US 12 6966812 6966812 single base substitution G T upstream_gene_variant UCEC-US 12 6967596 6967596 single base substitution G T exon_variant UCEC-US 12 6967596 6967596 single base substitution G T intron_variant UCEC-US 12 6967596 6967596 single base substitution G T missense_variant K291N 873G>T UCEC-US 12 6967596 6967596 single base substitution G T upstream_gene_variant UCEC-US 12 6969622 6969622 single base substitution G T downstream_gene_variant UCEC-US 12 6969622 6969622 single base substitution G T exon_variant UCEC-US 12 6969622 6969622 single base substitution G T intron_variant UCEC-US 12 6969622 6969622 single base substitution G T missense_variant Q437H 1311G>T UCEC-US 12 6969622 6969622 single base substitution G T upstream_gene_variant UCEC-US 12 6970645 6970645 single base substitution G A downstream_gene_variant UCEC-US 12 6970645 6970645 single base substitution G A exon_variant UCEC-US 12 6970645 6970645 single base substitution G A missense_variant E513K 1537G>A UCEC-US 12 6970645 6970645 single base substitution G A upstream_gene_variant UCEC-US 12 6970686 6970686 single base substitution G T downstream_gene_variant UCEC-US 12 6970686 6970686 single base substitution G T exon_variant UCEC-US 12 6970686 6970686 single base substitution G T missense_variant Q526H 1578G>T UCEC-US 12 6970686 6970686 single base substitution G T upstream_gene_variant UCEC-US 12 6971694 6971694 single base substitution C T downstream_gene_variant UCEC-US 12 6971694 6971694 single base substitution C T exon_variant UCEC-US 12 6971694 6971694 single base substitution C T synonymous_variant F578F 1734C>T UCEC-US 12 6971694 6971694 single base substitution C T upstream_gene_variant UCEC-US 12 6972349 6972349 single base substitution G T downstream_gene_variant UCEC-US 12 6972349 6972349 single base substitution G T exon_variant UCEC-US 12 6972349 6972349 single base substitution G T splice_acceptor_variant UCEC-US 12 6972349 6972349 single base substitution G T upstream_gene_variant UCEC-US 12 6972495 6972495 single base substitution C T downstream_gene_variant UCEC-US 12 6972495 6972495 single base substitution C T exon_variant UCEC-US 12 6972495 6972495 single base substitution C T intron_variant UCEC-US 12 6972495 6972495 single base substitution C T synonymous_variant N636N 1908C>T UCEC-US 12 6972495 6972495 single base substitution C T upstream_gene_variant UCEC-US 12 6972496 6972496 single base substitution G A downstream_gene_variant UCEC-US 12 6972496 6972496 single base substitution G A exon_variant UCEC-US 12 6972496 6972496 single base substitution G A intron_variant UCEC-US 12 6972496 6972496 single base substitution G A missense_variant E637K 1909G>A UCEC-US 12 6972496 6972496 single base substitution G A upstream_gene_variant UCEC-US 12 6972513 6972513 single base substitution C A downstream_gene_variant UCEC-US 12 6972513 6972513 single base substitution C A exon_variant UCEC-US 12 6972513 6972513 single base substitution C A intron_variant UCEC-US 12 6972513 6972513 single base substitution C A missense_variant F642L 1926C>A UCEC-US 12 6973102 6973102 single base substitution C T downstream_gene_variant UCEC-US 12 6973102 6973102 single base substitution C T exon_variant UCEC-US 12 6973102 6973102 single base substitution C T missense_variant A665V 1994C>T UCEC-US 12 6973102 6973102 single base substitution C T missense_variant A688V 2063C>T UCEC-US 12 6973293 6973293 single base substitution C A downstream_gene_variant UCEC-US 12 6973293 6973293 single base substitution C A exon_variant UCEC-US 12 6973293 6973293 single base substitution C A missense_variant D703E 2109C>A UCEC-US 12 6973293 6973293 single base substitution C A missense_variant D726E 2178C>A UCEC-US 12 6978336 6978336 single base substitution G A downstream_gene_variant UCEC-US 12 6978532 6978532 single base substitution C T downstream_gene_variant UCEC-US 12 6978921 6978921 single base substitution C A downstream_gene_variant UCEC-US 12 6980375 6980375 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AD-5900-01 COSM1363957 c.1232G>A p.G411D Substitution - Missense 12:6860379-6860379 + T3021 COSM4739909 c.664C>T p.R222C Substitution - Missense 12:6856786-6856786 + TCGA-EB-A5UN-06 COSM3464550 c.396C>T p.A132A Substitution - coding silent 12:6856108-6856108 + B23-Tumor COSM1747219 c.168G>T p.Q56H Substitution - Missense 12:6855457-6855457 + TCGA-18-3409-01 COSM695305 c.1169C>T p.S390F Substitution - Missense 12:6860189-6860189 + LP6007430-DNA_A01 COSM5036239 c.13A>G p.S5G Substitution - Missense 12:6852192-6852192 + TCGA-A8-A094-01 COSM1133965 c.103G>A p.D35N Substitution - Missense 12:6852282-6852282 + QC2-32-T2 COSM5654220 c.246G>A p.E82E Substitution - coding silent 12:6855763-6855763 + YUBER COSM1704998 c.203G>A p.R68Q Substitution - Missense 12:6855492-6855492 + TCGA-AZ-6601-01 COSM1363947 c.195C>T p.T65T Substitution - coding silent 12:6855484-6855484 + RK099_C01 COSM1628806 c.2343C>G p.A781A Substitution - coding silent 12:6864820-6864820 + B45-Tumor COSM1747221 c.1627G>A p.D543N Substitution - Missense 12:6861571-6861571 + CHC892T COSM4794787 c.545G>A p.S182N Substitution - Missense 12:6856411-6856411 + TP_2061 COSM5561811 c.580C>T p.P194S Substitution - Missense 12:6856446-6856446 + TCGA-BR-4257-01 COSM4044482 c.196G>A p.G66S Substitution - Missense 12:6855485-6855485 + BD88T COSM5505565 c.1931G>A p.G644E Substitution - Missense 12:6863875-6863875 + TCGA-CD-A4MG-01 COSM4044493 c.1477A>G p.M493V Substitution - Missense 12:6861085-6861085 + TCGA-EE-A2MR-06 COSM3464566 c.2280C>T p.F760F Substitution - coding silent 12:6864757-6864757 + TCGA-AP-A051-01 COSM942992 c.1734C>T p.F578F Substitution - coding silent 12:6862530-6862530 + TCGA-EB-A41A-01 COSM3464554 c.581C>T p.P194L Substitution - Missense 12:6856447-6856447 + TCGA-AP-A059-01 COSM1586705 c.2178C>A p.D726E Substitution - Missense 12:6864129-6864129 + 53M COSM2099736 c.1256C>T p.A419V Substitution - Missense 12:6860403-6860403 + 200T COSM1232092 c.2191C>T p.R731W Substitution - Missense 12:6864737-6864737 + TCGA-UB-A7MB-01 COSM4931170 c.2387A>T p.D796V Substitution - Missense 12:6864864-6864864 + TCGA-A6-5665-01 COSM1363959 c.1703A>G p.Y568C Substitution - Missense 12:6862499-6862499 + B23-Tumor COSM1747220 c.168G>T p.Q56H Substitution - Missense 12:6855457-6855457 + TCGA-AA-3713-01 COSM1363953 c.572G>A p.R191Q Substitution - Missense 12:6856438-6856438 + TCGA-EE-A20C-06 COSM3464539 c.238A>G p.K80E Substitution - Missense 12:6855755-6855755 + 587336 COSM1232093 c.2380G>T p.V794F Substitution - Missense 12:6864857-6864857 + 166 COSM3724117 c.1827C>T p.P609P Substitution - coding silent 12:6863250-6863250 + CHC1044T COSM4790938 c.1671C>T p.V557V Substitution - coding silent 12:6861615-6861615 + TP_2061 COSM2099697 c.844G>A p.D282N Substitution - Missense 12:6857703-6857703 + VLTS-3 COSM5702887 c.1592C>T p.S531F Substitution - Missense 12:6861536-6861536 + ESO-H01 COSM1270102 c.1836G>A p.E612E Substitution - coding silent 12:6863259-6863259 + cSCCP5 COSM138014 c.1730C>T p.T577I Substitution - Missense 12:6862526-6862526 + B20-Tumor COSM1363964 c.2419A>G p.I807V Substitution - Missense 12:6865184-6865184 + 100695 COSM95485 c.755C>T p.T252I Substitution - Missense 12:6856877-6856877 + 53M COSM2099735 c.1256C>T p.A419V Substitution - Missense 12:6860403-6860403 + MO_1012 COSM5547274 c.1520_1522delAGA p.K509delK Deletion - In frame 12:6861464-6861466 + CCK81 COSM2099700 c.857T>C p.M286T Substitution - Missense 12:6857716-6857716 + 3006_T COSM3955096 c.1260C>G p.L420L Substitution - coding silent 12:6860407-6860407 + sysucc-783T COSM5483803 c.2167C>T p.R723W Substitution - Missense 12:6864187-6864187 + TCGA-F1-6874-01 COSM4044492 c.1098G>A p.P366P Substitution - coding silent 12:6859509-6859509 + MOLT-4 COSM1676682 c.628C>A p.L210I Substitution - Missense 12:6856750-6856750 + S0049 COSM5882319 c.1811G>A p.G604D Substitution - Missense 12:6863234-6863234 + ESO-640 COSM1270100 c.1956G>A p.S652S Substitution - coding silent 12:6863831-6863831 + 1N55-VS-1T55 COSM4739911 c.673G>A p.D225N Substitution - Missense 12:6856795-6856795 + 1N32-VS-1T32 COSM2099750 c.1643C>T p.T548M Substitution - Missense 12:6861587-6861587 + TCGA-BR-8381-01 COSM4044499 c.2083G>A p.A695T Substitution - Missense 12:6864103-6864103 + TCGA-HU-A4G8-01 COSM2099763 c.2013C>T p.D671D Substitution - coding silent 12:6863888-6863888 + sysucc-1116T COSM5483011 c.579T>A p.P193P Substitution - coding silent 12:6856445-6856445 + TCGA-EE-A2MS-06 COSM3464565 c.2097C>T p.P699P Substitution - coding silent 12:6864117-6864117 + TCGA-A2-A4S0-01 COSM3812891 c.171T>C p.Y57Y Substitution - coding silent 12:6855460-6855460 + sysucc-783T COSM5483802 c.2236C>T p.R746W Substitution - Missense 12:6864187-6864187 + SC_9094 COSM5551930 c.769G>A p.D257N Substitution - Missense 12:6856891-6856891 + CHC1044T COSM4790938 c.1671C>T p.V557V Substitution - coding silent 12:6861615-6861615 + TCGA-D1-A16G-01 COSM942988 c.946C>T p.P316S Substitution - Missense 12:6858505-6858505 + TCGA-HU-A4GT-01 COSM4044495 c.1648C>A p.L550M Substitution - Missense 12:6861592-6861592 + PT42 COSM5925737 c.1674-4C>T p.? Unknown 12:6862466-6862466 + TCGA-DD-A3A7-01 COSM4916205 c.2100T>G p.P700P Substitution - coding silent 12:6864120-6864120 + TCGA-AX-A05Z-01 COSM942990 c.1537G>A p.E513K Substitution - Missense 12:6861481-6861481 + ESO-H01 COSM1270103 c.1836G>A p.E612E Substitution - coding silent 12:6863259-6863259 + TCGA-G3-A25S-01 COSM4926738 c.1461G>A p.M487I Substitution - Missense 12:6861069-6861069 + TCGA-EL-A4K2-01 COSM3368932 c.239A>G p.K80R Substitution - Missense 12:6855756-6855756 + TCGA-CH-5768-01 COSM3671176 c.294G>A p.R98R Substitution - coding silent 12:6855811-6855811 + TCGA-BR-4362-01 COSM4044497 c.1901A>G p.Y634C Substitution - Missense 12:6863324-6863324 + CHC892T COSM4794787 c.545G>A p.S182N Substitution - Missense 12:6856411-6856411 + TCGA-EE-A2GR-06 COSM3464559 c.1111C>T p.Q371* Substitution - Nonsense 12:6859522-6859522 + B17 COSM253880 c.2044C>T p.L682F Substitution - Missense 12:6864064-6864064 + 61 COSM5739566 c.305G>A p.G102D Substitution - Missense 12:6856017-6856017 + T3724 COSM4739918 c.2443T>C p.C815R Substitution - Missense 12:6866012-6866012 + CHEWS029 COSM4575695 c.1608C>T p.Y536Y Substitution - coding silent 12:6861552-6861552 + Pat_53_B COSM1232091 c.2260C>T p.R754W Substitution - Missense 12:6864737-6864737 + CHC2358T COSM4953265 c.1077G>A p.E359E Substitution - coding silent 12:6859488-6859488 + HCC20T COSM1606561 c.1210G>T p.E404* Substitution - Nonsense 12:6860230-6860230 + 587336 COSM1232094 c.2311G>T p.V771F Substitution - Missense 12:6864857-6864857 + 113364 COSM95486 c.2092G>A p.D698N Substitution - Missense 12:6864112-6864112 + 2492729 COSM5725925 c.2390G>A p.G797D Substitution - Missense 12:6864867-6864867 + HT55 COSM2099615 c.266G>A p.G89E Substitution - Missense 12:6855783-6855783 + TARGET-30-PATHVK COSM1288861 c.541T>G p.F181V Substitution - Missense 12:6856407-6856407 + TCGA-F1-6874-01 COSM4044491 c.1098G>A p.P366P Substitution - coding silent 12:6859509-6859509 + TCGA-AP-A056-01 COSM1152570 c.1909G>A p.E637K Substitution - Missense 12:6863332-6863332 + CHC2358T COSM4953264 c.1077G>A p.E359E Substitution - coding silent 12:6859488-6859488 + T3064 COSM212499 c.1735G>A p.G579S Substitution - Missense 12:6862531-6862531 + LS411 COSM2099723 c.1129G>A p.V377M Substitution - Missense 12:6859540-6859540 + TCGA-AP-A0LE-01 COSM1152567 c.789G>T p.E263D Substitution - Missense 12:6857648-6857648 + B17-Tumor COSM253880 c.2044C>T p.L682F Substitution - Missense 12:6864064-6864064 + T207 COSM4739907 c.640G>A p.D214N Substitution - Missense 12:6856762-6856762 + TCGA-DD-A1E9-01 COSM4912412 c.2458G>A p.V820I Substitution - Missense 12:6865223-6865223 + PT42 COSM5925736 c.1674-4C>T p.? Unknown 12:6862466-6862466 + B45 COSM1747221 c.1627G>A p.D543N Substitution - Missense 12:6861571-6861571 + Au3 COSM179597 c.436C>T p.R146W Substitution - Missense 12:6856148-6856148 + TCGA-UB-A7MB-01 COSM4931171 c.2318A>T p.D773V Substitution - Missense 12:6864864-6864864 + MOLT-4 COSM1676681 c.520C>T p.R174W Substitution - Missense 12:6856386-6856386 + TCGA-A8-A094-01 COSM431765 c.891G>C p.E297D Substitution - Missense 12:6858450-6858450 + YUMER COSM1705000 c.1157C>T p.S386F Substitution - Missense 12:6860177-6860177 + TCGA-D1-A17U-01 COSM942983 c.645C>T p.G215G Substitution - coding silent 12:6856767-6856767 + 107053 COSM96273 c.1641C>T p.S547S Substitution - coding silent 12:6861585-6861585 + B23 COSM1747219 c.168G>T p.Q56H Substitution - Missense 12:6855457-6855457 + TCGA-B0-5402-01 COSM1135421 c.1271G>A p.G424D Substitution - Missense 12:6860418-6860418 + TCGA-AX-A0J1-01 COSM1586706 c.2063C>T p.A688V Substitution - Missense 12:6863938-6863938 + Pat_53_B COSM2099694 c.665G>A p.R222H Substitution - Missense 12:6856787-6856787 + Pat_41_B COSM5841804 c.73G>A p.V25I Substitution - Missense 12:6852252-6852252 + 8066440 COSM3772715 c.1101G>A p.T367T Substitution - coding silent 12:6859512-6859512 + CHC2358T COSM4953264 c.1077G>A p.E359E Substitution - coding silent 12:6859488-6859488 + TCGA-HU-A4H3-01 COSM4044480 c.147G>A p.T49T Substitution - coding silent 12:6855436-6855436 + LS411 COSM2099724 c.1129G>A p.V377M Substitution - Missense 12:6859540-6859540 + TCGA-BH-A0B4-01 COSM1476873 c.1725G>T p.K575N Substitution - Missense 12:6862521-6862521 + HCC048T COSM5820543 c.1739T>G p.L580* Substitution - Nonsense 12:6862535-6862535 + TCGA-EE-A20C-06 COSM3464538 c.238A>G p.K80E Substitution - Missense 12:6855755-6855755 + TCGA-FW-A3R5-06 COSM3872344 c.826C>T p.L276L Substitution - coding silent 12:6857685-6857685 + RK241_C01 COSM4778626 c.1763-2A>C p.? Unknown 12:6863184-6863184 + 587270 COSM1232090 c.1393G>A p.V465M Substitution - Missense 12:6861001-6861001 + CSCC-6-T COSM4525686 c.1347G>T p.R449S Substitution - Missense 12:6860955-6860955 + ESO-640 COSM1270101 c.1887G>A p.A629A Substitution - coding silent 12:6863831-6863831 + TCGA-A2-A0T5-01 COSM3812897 c.1438A>C p.T480P Substitution - Missense 12:6861046-6861046 + TCGA-18-3409-01 COSM1147106 c.1169C>T p.S390F Substitution - Missense 12:6860189-6860189 + TCGA-EE-A3JA-06 COSM3464571 c.2562G>A p.Q854Q Substitution - coding silent 12:6866062-6866062 + S02360 COSM5695990 c.2001C>G p.N667K Substitution - Missense 12:6863945-6863945 + Pat_41_B COSM5841814 c.1746G>A p.W582* Substitution - Nonsense 12:6862542-6862542 + TCGA-AX-A0J0-01 COSM1586713 c.778T>G p.S260A Substitution - Missense 12:6857637-6857637 + TCGA-EE-A3JA-06 COSM3464572 c.2493G>A p.Q831Q Substitution - coding silent 12:6866062-6866062 + TCGA-AA-3713-01 COSM1363952 c.572G>A p.R191Q Substitution - Missense 12:6856438-6856438 + TCGA-HU-A4G8-01 COSM2099764 c.1944C>T p.D648D Substitution - coding silent 12:6863888-6863888 + tumor_4160100 COSM5949362 c.41C>T p.P14L Substitution - Missense 12:6852220-6852220 + B23 COSM1747220 c.168G>T p.Q56H Substitution - Missense 12:6855457-6855457 + 587270 COSM1232089 c.1393G>A p.V465M Substitution - Missense 12:6861001-6861001 + TCGA-A8-A094-01 COSM1133967 c.891G>C p.E297D Substitution - Missense 12:6858450-6858450 + S02360 COSM5695989 c.2070C>G p.N690K Substitution - Missense 12:6863945-6863945 + TCGA-BS-A0UA-01 COSM1152570 c.1909G>A p.E637K Substitution - Missense 12:6863332-6863332 + HCC084T COSM5822203 c.2493C>G p.I831M Substitution - Missense 12:6865993-6865993 + TCGA-33-6737-01 COSM695308 c.333G>A p.E111E Substitution - coding silent 12:6856045-6856045 + HCC20T COSM1606562 c.1210G>T p.E404* Substitution - Nonsense 12:6860230-6860230 + B20 COSM253881 c.2350A>G p.I784V Substitution - Missense 12:6865184-6865184 + TCGA-G9-6342-01 COSM3671179 c.1971G>T p.T657T Substitution - coding silent 12:6863915-6863915 + TCGA-AP-A0LE-01 COSM942986 c.789G>T p.E263D Substitution - Missense 12:6857648-6857648 + TCGA-AP-A051-01 COSM1586714 c.666C>T p.R222R Substitution - coding silent 12:6856788-6856788 + TCGA-AX-A05Z-01 COSM1586711 c.1537G>A p.E513K Substitution - Missense 12:6861481-6861481 + TCGA-A2-A0T5-01 COSM3812898 c.1438A>C p.T480P Substitution - Missense 12:6861046-6861046 + Pat_41_B COSM5841805 c.73G>A p.V25I Substitution - Missense 12:6852252-6852252 + QC2-32-T2 COSM5654221 c.246G>A p.E82E Substitution - coding silent 12:6855763-6855763 + T3610 COSM4739915 c.2244G>A p.T748T Substitution - coding silent 12:6864195-6864195 + TCGA-EL-A4K2-01 COSM3368933 c.239A>G p.K80R Substitution - Missense 12:6855756-6855756 + TCGA-D1-A17Q-01 COSM1586707 c.1926C>A p.F642L Substitution - Missense 12:6863349-6863349 + TCGA-AA-A010-01 COSM286407 c.1791C>T p.L597L Substitution - coding silent 12:6863214-6863214 + MOLT-4 COSM1676680 c.520C>T p.R174W Substitution - Missense 12:6856386-6856386 + TCGA-CM-4746-01 COSM3688547 c.687C>T p.G229G Substitution - coding silent 12:6856809-6856809 + TCGA-FS-A1ZA-06 COSM1512939 c.672C>T p.F224F Substitution - coding silent 12:6856794-6856794 + RK241_C01 COSM4778627 c.1763-2A>C p.? Unknown 12:6863184-6863184 + TCGA-AP-A059-01 COSM942996 c.2109C>A p.D703E Substitution - Missense 12:6864129-6864129 + ACINAR06 COSM1735211 c.1885+1G>T p.? Unknown 12:6863309-6863309 + TP_2061 COSM2099698 c.844G>A p.D282N Substitution - Missense 12:6857703-6857703 + VLTS-3 COSM5702886 c.1592C>T p.S531F Substitution - Missense 12:6861536-6861536 + MedB-1 COSM5622126 c.781T>C p.Y261H Substitution - Missense 12:6857640-6857640 + 3006_T COSM3955097 c.1260C>G p.L420L Substitution - coding silent 12:6860407-6860407 + CHC892T COSM4794786 c.545G>A p.S182N Substitution - Missense 12:6856411-6856411 + HCC20 COSM1606561 c.1210G>T p.E404* Substitution - Nonsense 12:6860230-6860230 + B45 COSM1747222 c.1627G>A p.D543N Substitution - Missense 12:6861571-6861571 + TCGA-DD-A1E9-01 COSM4912413 c.2389G>A p.V797I Substitution - Missense 12:6865223-6865223 + TCGA-66-2789-01 COSM1147103 c.299C>T p.A100V Substitution - Missense 12:6855816-6855816 + 262LT COSM4381465 c.2572A>G p.S858G Substitution - Missense 12:6866072-6866072 + TCGA-DD-A3A7-01 COSM4916204 c.2169T>G p.P723P Substitution - coding silent 12:6864120-6864120 + TARGET-30-PATHVK COSM1288860 c.541T>G p.F181V Substitution - Missense 12:6856407-6856407 + MOLT-4 COSM1676683 c.628C>A p.L210I Substitution - Missense 12:6856750-6856750 + T578 COSM4739912 c.1358G>A p.S453N Substitution - Missense 12:6860966-6860966 + 587226 COSM1232092 c.2191C>T p.R731W Substitution - Missense 12:6864737-6864737 + YULOCUS COSM5375853 c.2170C>T p.P724S Substitution - Missense 12:6864121-6864121 + B20-Tumor COSM253881 c.2350A>G p.I784V Substitution - Missense 12:6865184-6865184 + TCGA-AN-A0G0-01 COSM431762 c.221G>A p.R74Q Substitution - Missense 12:6855510-6855510 + TCGA-AX-A0J1-01 COSM942995 c.1994C>T p.A665V Substitution - Missense 12:6863938-6863938 + TCGA-A6-5665-01 COSM1363960 c.1703A>G p.Y568C Substitution - Missense 12:6862499-6862499 + sysucc-1116T COSM5483012 c.579T>A p.P193P Substitution - coding silent 12:6856445-6856445 + TCGA-EE-A2MR-06 COSM3464567 c.2211C>T p.F737F Substitution - coding silent 12:6864757-6864757 + TCGA-EB-A5UN-06 COSM3464549 c.396C>T p.A132A Substitution - coding silent 12:6856108-6856108 + TCGA-AX-A0J0-01 COSM942985 c.778T>G p.S260A Substitution - Missense 12:6857637-6857637 + HCC20 COSM1606562 c.1210G>T p.E404* Substitution - Nonsense 12:6860230-6860230 + SJDES001-R COSM4575697 c.2484-1G>A p.? Unknown 12:6865983-6865983 + TCGA-EE-A2MD-06 COSM3464563 c.1917A>T p.E639D Substitution - Missense 12:6863340-6863340 + TCGA-A2-A4S0-01 COSM3812892 c.171T>C p.Y57Y Substitution - coding silent 12:6855460-6855460 + SJDES001-R COSM4575698 c.2415-1G>A p.? Unknown 12:6865983-6865983 + CHEWS029 COSM4575696 c.1608C>T p.Y536Y Substitution - coding silent 12:6861552-6861552 + TCGA-AN-A046-01 COSM1363953 c.572G>A p.R191Q Substitution - Missense 12:6856438-6856438 + TCGA-AN-A046-01 COSM1363952 c.572G>A p.R191Q Substitution - Missense 12:6856438-6856438 + ACINAR06 COSM1735210 c.1886G>T p.G629V Substitution - Missense 12:6863309-6863309 + CSCC-44-T COSM4526185 c.1378G>C p.V460L Substitution - Missense 12:6860986-6860986 + HCC048T COSM5820542 c.1739T>G p.L580* Substitution - Nonsense 12:6862535-6862535 + HDC101 COSM4635910 c.1425G>C p.E475D Substitution - Missense 12:6861033-6861033 + TCGA-AZ-6601-01 COSM1363948 c.195C>T p.T65T Substitution - coding silent 12:6855484-6855484 + HDC101 COSM4635909 c.1425G>C p.E475D Substitution - Missense 12:6861033-6861033 + CSCC-6-T COSM4525687 c.1347G>T p.R449S Substitution - Missense 12:6860955-6860955 + BD165T COSM5506391 c.1244G>A p.R415Q Substitution - Missense 12:6860391-6860391 + Pat_41_B COSM5841815 c.1746G>A p.W582* Substitution - Nonsense 12:6862542-6862542 + BD165T COSM5506390 c.1244G>A p.R415Q Substitution - Missense 12:6860391-6860391 + TCGA-AP-A059-01 COSM942991 c.1578G>T p.Q526H Substitution - Missense 12:6861522-6861522 + TCGA-BS-A0UF-01 COSM942987 c.873G>T p.K291N Substitution - Missense 12:6858432-6858432 + TCGA-EB-A41A-01 COSM3464562 c.1769C>T p.S590F Substitution - Missense 12:6863192-6863192 + TCGA-D9-A6EC-06 COSM4402397 c.2450C>T p.S817F Substitution - Missense 12:6866019-6866019 + TCGA-AA-A00D-01 COSM298271 c.28C>T p.L10L Substitution - coding silent 12:6852207-6852207 + S00943 COSM316419 c.1183G>T p.E395* Substitution - Nonsense 12:6860203-6860203 + TCGA-AP-A051-01 COSM1586709 c.1734C>T p.F578F Substitution - coding silent 12:6862530-6862530 + Au3 COSM2099658 c.436C>T p.R146W Substitution - Missense 12:6856148-6856148 + TCGA-E9-A226-01 COSM5230495 c.1931delC p.P645fs*45 Deletion - Frameshift 12:6863354-6863354 + RK099_C01 COSM1628807 c.2274C>G p.A758A Substitution - coding silent 12:6864820-6864820 + TCGA-CM-5860-01 COSM1363949 c.202C>T p.R68* Substitution - Nonsense 12:6855491-6855491 + S0049 COSM5882318 c.1811G>A p.G604D Substitution - Missense 12:6863234-6863234 + SA222 COSM212499 c.1735G>A p.G579S Substitution - Missense 12:6862531-6862531 + TCGA-D9-A6EC-06 COSM4402396 c.2519C>T p.S840F Substitution - Missense 12:6866019-6866019 + YUMER COSM1704999 c.1157C>T p.S386F Substitution - Missense 12:6860177-6860177 + TCGA-HU-A4GT-01 COSM4044496 c.1648C>A p.L550M Substitution - Missense 12:6861592-6861592 + TCGA-AX-A05Y-01 COSM942989 c.1311G>T p.Q437H Substitution - Missense 12:6860458-6860458 + 8057680 COSM3384587 c.2311G>A p.A771T Substitution - Missense 12:6864788-6864788 + TCGA-AX-A05Y-01 COSM1152569 c.1311G>T p.Q437H Substitution - Missense 12:6860458-6860458 + tumor_4160100 COSM5949361 c.41C>T p.P14L Substitution - Missense 12:6852220-6852220 + ESCC_104 COSM5638343 c.178A>G p.R60G Substitution - Missense 12:6855467-6855467 + 2318496 COSM4777311 c.85G>C p.E29Q Substitution - Missense 12:6852264-6852264 + TCGA-CA-6718-01 COSM253881 c.2350A>G p.I784V Substitution - Missense 12:6865184-6865184 + pfg122T COSM4765033 c.1159_1160insG p.E388fs*40 Insertion - Frameshift 12:6860179-6860180 + TCGA-66-2789-01 COSM695312 c.299C>T p.A100V Substitution - Missense 12:6855816-6855816 + TCGA-AN-A0G0-01 COSM1133966 c.221G>A p.R74Q Substitution - Missense 12:6855510-6855510 + T3225 COSM4739910 c.673G>A p.D225N Substitution - Missense 12:6856795-6856795 + CHC892T COSM4794786 c.545G>A p.S182N Substitution - Missense 12:6856411-6856411 + TCGA-A8-A094-01 COSM431761 c.103G>A p.D35N Substitution - Missense 12:6852282-6852282 + CSCC-6-T COSM3464560 c.1111C>T p.Q371* Substitution - Nonsense 12:6859522-6859522 + CCK81 COSM2099699 c.857T>C p.M286T Substitution - Missense 12:6857716-6857716 + YUBER COSM1704997 c.203G>A p.R68Q Substitution - Missense 12:6855492-6855492 + ESO-R61 COSM1270105 c.1294C>T p.R432W Substitution - Missense 12:6860441-6860441 + TCGA-D1-A17D-01 COSM1152570 c.1909G>A p.E637K Substitution - Missense 12:6863332-6863332 + TCGA-FS-A1ZA-06 COSM1512940 c.672C>T p.F224F Substitution - coding silent 12:6856794-6856794 + T3610 COSM4739916 c.2175G>A p.T725T Substitution - coding silent 12:6864195-6864195 + 262LT COSM4381466 c.2503A>G p.S835G Substitution - Missense 12:6866072-6866072 + TCGA-BR-4257-01 COSM4044483 c.196G>A p.G66S Substitution - Missense 12:6855485-6855485 + TCGA-HU-A4GU-01 COSM4044502 c.2529G>A p.P843P Substitution - coding silent 12:6866029-6866029 + TCGA-CM-5860-01 COSM1363950 c.202C>T p.R68* Substitution - Nonsense 12:6855491-6855491 + TCGA-CM-4746-01 COSM3688546 c.687C>T p.G229G Substitution - coding silent 12:6856809-6856809 + sysucc-1517T COSM942994 c.1908C>T p.N636N Substitution - coding silent 12:6863331-6863331 + ESO-R61 COSM1270104 c.1294C>T p.R432W Substitution - Missense 12:6860441-6860441 + CHC2358T COSM4953265 c.1077G>A p.E359E Substitution - coding silent 12:6859488-6859488 + CHC1044T COSM4790937 c.1671C>T p.V557V Substitution - coding silent 12:6861615-6861615 + LUAD-YINHD COSM348750 c.241G>C p.E81Q Substitution - Missense 12:6855758-6855758 + YUQUEST COSM5375851 c.1050C>T p.F350F Substitution - coding silent 12:6858609-6858609 + 8066440 COSM3772716 c.1101G>A p.T367T Substitution - coding silent 12:6859512-6859512 + LP6005409-DNA_E02 COSM4411533 c.1609G>A p.G537R Substitution - Missense 12:6861553-6861553 + PD22363a COSM5797818 c.14G>C p.S5T Substitution - Missense 12:6852193-6852193 + MedB-1 COSM5622127 c.781T>C p.Y261H Substitution - Missense 12:6857640-6857640 + TCGA-BP-4161-01 COSM1135422 c.2442C>T p.T814T Substitution - coding silent 12:6865207-6865207 + TCGA-D1-A103-01 COSM942993 c.1763-1G>T p.? Unknown 12:6863185-6863185 + Pat_53_B COSM2099693 c.665G>A p.R222H Substitution - Missense 12:6856787-6856787 + TCGA-BH-A0B4-01 COSM431766 c.1725G>T p.K575N Substitution - Missense 12:6862521-6862521 + 166 COSM3724118 c.1827C>T p.P609P Substitution - coding silent 12:6863250-6863250 + TCGA-33-6737-01 COSM1147105 c.333G>A p.E111E Substitution - coding silent 12:6856045-6856045 + T3724 COSM4739917 c.2512T>C p.C838R Substitution - Missense 12:6866012-6866012 + TCGA-BS-A0UF-01 COSM1586712 c.873G>T p.K291N Substitution - Missense 12:6858432-6858432 + TCGA-AP-A056-01 COSM942964 c.146C>T p.T49M Substitution - Missense 12:6855435-6855435 + 587226 COSM1232091 c.2260C>T p.R754W Substitution - Missense 12:6864737-6864737 + TCGA-CD-A4MG-01 COSM4044494 c.1477A>G p.M493V Substitution - Missense 12:6861085-6861085 + SA097 COSM213629 c.2404A>G p.K802E Substitution - Missense 12:6865238-6865238 + TCGA-G9-6351-01 COSM3671174 c.49C>A p.R17R Substitution - coding silent 12:6852228-6852228 + T3021 COSM4739908 c.664C>T p.R222C Substitution - Missense 12:6856786-6856786 + pfg122T COSM4765032 c.1159_1160insG p.E388fs*40 Insertion - Frameshift 12:6860179-6860180 + Pat_41_B COSM5841812 c.1124C>T p.T375I Substitution - Missense 12:6859535-6859535 + TP_2061 COSM5561810 c.580C>T p.P194S Substitution - Missense 12:6856446-6856446 + CSCC-44-T COSM4526186 c.1378G>C p.V460L Substitution - Missense 12:6860986-6860986 + TCGA-EE-A2MS-06 COSM3464564 c.2166C>T p.P722P Substitution - coding silent 12:6864117-6864117 + TCGA-CH-5768-01 COSM3671177 c.294G>A p.R98R Substitution - coding silent 12:6855811-6855811 + TCGA-BR-8381-01 COSM4044498 c.2152G>A p.A718T Substitution - Missense 12:6864103-6864103 + TCGA-G9-6342-01 COSM3671178 c.2040G>T p.T680T Substitution - coding silent 12:6863915-6863915 + TCGA-CA-6718-01 COSM1363964 c.2419A>G p.I807V Substitution - Missense 12:6865184-6865184 + pfg020T COSM1639233 c.1353C>A p.C451* Substitution - Nonsense 12:6860961-6860961 + LP6005409-DNA_E02 COSM4411532 c.1609G>A p.G537R Substitution - Missense 12:6861553-6861553 + 1N32-VS-1T32 COSM2099749 c.1643C>T p.T548M Substitution - Missense 12:6861587-6861587 + TCGA-D1-A16G-01 COSM1152568 c.946C>T p.P316S Substitution - Missense 12:6858505-6858505 + TCGA-D1-A17U-01 COSM1152566 c.645C>T p.G215G Substitution - coding silent 12:6856767-6856767 + TCGA-AP-A056-01 COSM1586715 c.146C>T p.T49M Substitution - Missense 12:6855435-6855435 + pfg020T COSM1639232 c.1353C>A p.C451* Substitution - Nonsense 12:6860961-6860961 + SC_9094 COSM5551929 c.769G>A p.D257N Substitution - Missense 12:6856891-6856891 + 2492729 COSM5725926 c.2321G>A p.G774D Substitution - Missense 12:6864867-6864867 + TCGA-G9-6351-01 COSM3671175 c.49C>A p.R17R Substitution - coding silent 12:6852228-6852228 + TCGA-DW-7838-01 COSM3987176 c.1109C>T p.T370I Substitution - Missense 12:6859520-6859520 + Pat_41_B COSM5841813 c.1124C>T p.T375I Substitution - Missense 12:6859535-6859535 + MO_1012 COSM5547273 c.1520_1522delAGA p.K509delK Deletion - In frame 12:6861464-6861466 + TCGA-B5-A11J-01 COSM942994 c.1908C>T p.N636N Substitution - coding silent 12:6863331-6863331 + TCGA-D1-A103-01 COSM1586708 c.1763-1G>T p.? Unknown 12:6863185-6863185 + CHC1044T COSM4790937 c.1671C>T p.V557V Substitution - coding silent 12:6861615-6861615 + TCGA-B0-5402-01 COSM468843 c.1271G>A p.G424D Substitution - Missense 12:6860418-6860418 + TCGA-BP-4161-01 COSM1135423 c.2373C>T p.T791T Substitution - coding silent 12:6865207-6865207 + TCGA-AP-A059-01 COSM1586710 c.1578G>T p.Q526H Substitution - Missense 12:6861522-6861522 + TCGA-AP-A051-01 COSM942984 c.666C>T p.R222R Substitution - coding silent 12:6856788-6856788 + TCGA-AD-5900-01 COSM1363958 c.1232G>A p.G411D Substitution - Missense 12:6860379-6860379 + 22T COSM107847 c.1797C>T p.I599I Substitution - coding silent 12:6863220-6863220 + T3225 COSM4739911 c.673G>A p.D225N Substitution - Missense 12:6856795-6856795 + B45-Tumor COSM1747222 c.1627G>A p.D543N Substitution - Missense 12:6861571-6861571 + LP6007430-DNA_A01 COSM5036238 c.13A>G p.S5G Substitution - Missense 12:6852192-6852192 + TCGA-EB-A41A-01 COSM3464555 c.581C>T p.P194L Substitution - Missense 12:6856447-6856447 + T207 COSM4739906 c.640G>A p.D214N Substitution - Missense 12:6856762-6856762 + T3064 COSM4739914 c.1735G>A p.G579S Substitution - Missense 12:6862531-6862531 + HCC084T COSM5822204 c.2424C>G p.I808M Substitution - Missense 12:6865993-6865993 + Pat_53_B COSM1232092 c.2191C>T p.R731W Substitution - Missense 12:6864737-6864737 + TCGA-HU-A4GU-01 COSM4044503 c.2460G>A p.P820P Substitution - coding silent 12:6866029-6866029 + TCGA-G3-A25S-01 COSM4926739 c.1461G>A p.M487I Substitution - Missense 12:6861069-6861069 + TCGA-EE-A2GR-06 COSM3464560 c.1111C>T p.Q371* Substitution - Nonsense 12:6859522-6859522 + 61 COSM5739565 c.305G>A p.G102D Substitution - Missense 12:6856017-6856017 + TCGA-DW-7838-01 COSM3987175 c.1109C>T p.T370I Substitution - Missense 12:6859520-6859520 + B17-Tumor COSM3931731 c.2113C>T p.L705F Substitution - Missense 12:6864064-6864064 + YUQUEST COSM5375852 c.1050C>T p.F350F Substitution - coding silent 12:6858609-6858609 + PD22363a COSM5797817 c.14G>C p.S5T Substitution - Missense 12:6852193-6852193 + HT55 COSM2099616 c.266G>A p.G89E Substitution - Missense 12:6855783-6855783 + 2318496 COSM4777312 c.85G>C p.E29Q Substitution - Missense 12:6852264-6852264 + YULOCUS COSM5375854 c.2101C>T p.P701S Substitution - Missense 12:6864121-6864121 + 200T COSM1232091 c.2260C>T p.R754W Substitution - Missense 12:6864737-6864737 + 8057680 COSM3384588 c.2242G>A p.A748T Substitution - Missense 12:6864788-6864788 + ESCC_104 COSM5638342 c.178A>G p.R60G Substitution - Missense 12:6855467-6855467 + 1N55-VS-1T55 COSM4739910 c.673G>A p.D225N Substitution - Missense 12:6856795-6856795 + TCGA-HU-A4H3-01 COSM4044481 c.147G>A p.T49T Substitution - coding silent 12:6855436-6855436 + T578 COSM4739913 c.1358G>A p.S453N Substitution - Missense 12:6860966-6860966 + TCGA-EB-A41A-01 COSM3464561 c.1769C>T p.S590F Substitution - Missense 12:6863192-6863192 + TCGA-FW-A3R5-06 COSM3872345 c.826C>T p.L276L Substitution - coding silent 12:6857685-6857685 + CSCC-6-T COSM3464559 c.1111C>T p.Q371* Substitution - Nonsense 12:6859522-6859522 + BD88T COSM5505564 c.2000G>A p.G667E Substitution - Missense 12:6863875-6863875 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631661 12p13 601447

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E514G c.1541A>G 12 6970649 HNSC A G Missense p.K80E c.238A>G 12 6964919 CM A G Missense p.K825E c.2473A>G 12 6974402 BRCA A T Missense p.E639D c.1917A>T 12 6972504 CM A T Missense p.Q433L c.1298A>T 12 6969609 LUAD C A Missense p.P843Q c.2528C>A 12 6975192 STAD C A Nonsense p.C451* c.1353C>A 12 6970125 STAD C G Synonymous p.A781A c.2343C>G 12 6973984 HC C T IntronicSNV . c.2098+35C>T 12 6973172 CM C T IntronicSNV . c.770-90C>T 12 6966703 CM C T IntronicSNV . c.770-9C>T 12 6966784 CM C T Missense p.A100V c.299C>T 12 6964980 LUSC C T Missense p.P193S c.577C>T 12 6965607 CM C T Missense p.P348S c.1042C>T 12 6967765 CM C T Missense p.R432W c.1294C>T 12 6969605 ESCA C T Missense p.R462C c.1384C>T 12 6970156 COREAD C T Nonsense p.Q371* c.1111C>T 12 6968686 CM C T Synonymous p.A687A c.2061C>T 12 6973100 STAD C T Synonymous p.F224F c.672C>T 12 6965958 CM C T Synonymous p.I192I c.576C>T 12 6965606 CM C T Synonymous p.L10L c.28C>T 12 6961371 COREAD C T Synonymous p.N636N c.1908C>T 12 6972495 UCEC C T Synonymous p.P722P c.2166C>T 12 6973281 CM C T Synonymous p.T559T c.1677C>T 12 6971637 CM G A 3-UTRSNV . c.2574+36G>A 12 6975274 CM G A Missense p.D35N c.103G>A 12 6961446 BRCA G A Missense p.E637K c.1909G>A 12 6972496 UCEC G A Missense p.G424D c.1271G>A 12 6969582 RCCC G A Missense p.G579S c.1735G>A 12 6971695 BRCA G A Missense p.G66S c.196G>A 12 6964649 STAD G A Missense p.R524Q c.1571G>A 12 6970679 HNSC G A Missense p.R74Q c.221G>A 12 6964674 BRCA G A Nonsense p.W758* c.2273G>A 12 6973914 CM G A Nonsense p.W829* c.2486G>A 12 6975150 ALL G A Synonymous p.E111E c.333G>A 12 6965209 LUSC G A Synonymous p.E612E c.1836G>A 12 6972423 ESCA G A Synonymous p.G41G c.123G>A 12 6964576 CM G A Synonymous p.P243P c.729G>A 12 6966015 HNSC G A Synonymous p.P366P c.1098G>A 12 6968673 STAD G A Synonymous p.Q854Q c.2562G>A 12 6975226 CM G A Synonymous p.R98R c.294G>A 12 6964975 PRAD G A Synonymous p.S652S c.1956G>A 12 6972995 ESCA GCCTTG - InFrameDeletion p.L631_G632delLG c.1890_1895delCCTTGG 12 6972476 HNSC G C Missense p.E297D c.891G>C 12 6967614 BRCA GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - InFrameDeletion p.G714_P724delGSTSAAADPPP c.2141_2173delGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTG 12 6973255 BLCA G T Missense p.E263D c.789G>T 12 6966812 UCEC G T Missense p.K575N c.1725G>T 12 6971685 BRCA G T Missense p.Q437H c.1311G>T 12 6969622 UCEC G T Nonsense p.E395* c.1183G>T 12 6969367 SCLC G T Synonymous p.L136L c.408G>T 12 6965284 LUAD T G Missense p.F181V c.541T>G 12 6965571 NB