Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 431710 431710 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:431710G>A c.2299C>T c.(2299-2301)Ctg>Ttg p.L767L BLCA 12 394776 394777 + Frame_Shift_Ins INS - - A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr12:394776_394777insA c.4918_4919insT c.(4918-4920)tgtfs p.C1640fs BLCA 12 402040 402040 + Missense_Mutation SNP C C T TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr12:402040C>T c.4751G>A c.(4750-4752)aGa>aAa p.R1584K BLCA 12 404928 404928 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr12:404928C>G c.4266G>C c.(4264-4266)aaG>aaC p.K1422N BLCA 12 416230 416230 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr12:416230G>A c.3956C>T c.(3955-3957)tCt>tTt p.S1319F BLCA 12 416853 416853 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr12:416853G>A c.3697C>T c.(3697-3699)Ctt>Ttt p.L1233F BLCA 12 416969 416969 + Nonsense_Mutation SNP G G C TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr12:416969G>C c.3581C>G c.(3580-3582)tCa>tGa p.S1194* BLCA 12 417057 417057 + Missense_Mutation SNP T T C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 g.chr12:417057T>C c.3493A>G c.(3493-3495)Att>Gtt p.I1165V BLCA 12 417135 417135 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr12:417135C>T c.3415G>A c.(3415-3417)Gaa>Aaa p.E1139K BLCA 12 420231 420231 + Splice_Site SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr12:420231C>G c.e21-1 BLCA 12 427339 427339 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr12:427339C>T c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K BLCA 12 427453 427453 + Nonsense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr12:427453C>A c.2716G>T c.(2716-2718)Gaa>Taa p.E906* BLCA 12 430212 430212 + Silent SNP G G C TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr12:430212G>C c.2490C>G c.(2488-2490)gtC>gtG p.V830V BLCA 12 431614 431614 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr12:431614G>A c.2395C>T c.(2395-2397)Cag>Tag p.Q799* BLCA 12 431654 431654 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr12:431654C>T c.2355G>A c.(2353-2355)agG>agA p.R785R BLCA 12 432923 432925 + In_Frame_Del DEL CTT CTT - TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr12:432923_432925delCTT c.1991_1993delAAG c.(1990-1995)gaagtg>gtg p.E664del BLCA 12 432923 432925 + In_Frame_Del DEL CTT CTT - TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr12:432923_432925delCTT c.1991_1993delAAG c.(1990-1995)gaagtg>gtg p.E664del BLCA 12 442723 442723 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr12:442723G>C c.1583C>G c.(1582-1584)tCc>tGc p.S528C BLCA 12 442760 442760 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr12:442760C>T c.1546G>A c.(1546-1548)Gag>Aag p.E516K BLCA 12 443421 443421 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr12:443421G>C c.1476C>G c.(1474-1476)atC>atG p.I492M BLCA 12 443457 443457 + Missense_Mutation SNP A A C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr12:443457A>C c.1440T>G c.(1438-1440)ttT>ttG p.F480L BLCA 12 459801 459801 + Missense_Mutation SNP G G C TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr12:459801G>C c.1294C>G c.(1294-1296)Ctg>Gtg p.L432V BLCA 12 464390 464390 + Silent SNP A A G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr12:464390A>G c.804T>C c.(802-804)gtT>gtC p.V268V BLCA 12 475238 475238 + Silent SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr12:475238G>A c.399C>T c.(397-399)gtC>gtT p.V133V BLCA 12 475246 475246 + Missense_Mutation SNP C C G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr12:475246C>G c.391G>C c.(391-393)Gaa>Caa p.E131Q BLCA 12 498104 498104 + Missense_Mutation SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr12:498104G>A c.154C>T c.(154-156)Cgg>Tgg p.R52W BLCA 12 498114 498114 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr12:498114G>C c.144C>G c.(142-144)atC>atG p.I48M BRCA 12 394653 394653 + Missense_Mutation SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr12:394653A>G c.5042T>C c.(5041-5043)cTa>cCa p.L1681P BRCA 12 404772 404772 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:404772T>G c.4422A>C c.(4420-4422)ccA>ccC p.P1474P BRCA 12 406343 406343 + Silent SNP A A G TCGA-AC-A2FG-01A-11D-A17D-09 TCGA-AC-A2FG-11A-22D-A17D-09 g.chr12:406343A>G c.4098T>C c.(4096-4098)tcT>tcC p.S1366S BRCA 12 427354 427354 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr12:427354C>G c.2815G>C c.(2815-2817)Gag>Cag p.E939Q BRCA 12 432248 432249 + Splice_Site INS - - T TCGA-A8-A076-01A-21W-A019-09 TCGA-A8-A076-10A-01W-A021-09 g.chr12:432248_432249insT c.2274_2275insA c.(2272-2277)aaagat>aaaAgat p.D759fs BRCA 12 432896 432896 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:432896G>A c.2020C>T c.(2020-2022)Cgg>Tgg p.R674W BRCA 12 464403 464403 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:464403C>T c.791G>A c.(790-792)cGa>cAa p.R264Q BRCA 12 465607 465607 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr12:465607C>G c.769G>C c.(769-771)Gat>Cat p.D257H BRCA 12 465641 465641 + Silent SNP C C T TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr12:465641C>T c.735G>A c.(733-735)ggG>ggA p.G245G BRCA 12 493214 493214 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr12:493214G>T c.349C>A c.(349-351)Ctg>Atg p.L117M CESC 12 402293 402293 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:402293C>G c.4498G>C c.(4498-4500)Gac>Cac p.D1500H CESC 12 416238 416238 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr12:416238G>A c.3948C>T c.(3946-3948)ttC>ttT p.F1316F CESC 12 416705 416705 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr12:416705C>T c.3845G>A c.(3844-3846)cGt>cAt p.R1282H CESC 12 419064 419064 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:419064C>T c.3283G>A c.(3283-3285)Gaa>Aaa p.E1095K CESC 12 419125 419125 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:419125C>T c.3222G>A c.(3220-3222)ctG>ctA p.L1074L CESC 12 431665 431665 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr12:431665G>A c.2344C>T c.(2344-2346)Cga>Tga p.R782* CESC 12 463280 463280 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 g.chr12:463280G>T c.991C>A c.(991-993)Ccc>Acc p.P331T CESC 12 463316 463316 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:463316G>C c.955C>G c.(955-957)Cat>Gat p.H319D CESC 12 464397 464397 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:464397C>T c.797G>A c.(796-798)cGa>cAa p.R266Q CESC 12 465702 465702 + Splice_Site SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr12:465702G>C c.674C>G c.(673-675)tCa>tGa p.S225* CESC 12 475192 475192 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr12:475192G>C c.445C>G c.(445-447)Ctg>Gtg p.L149V CHOL 12 498247 498247 + Missense_Mutation SNP A A C TCGA-WD-A7RX-01A-12D-A417-09 TCGA-WD-A7RX-10A-01D-A41A-09 g.chr12:498247A>C c.11T>G c.(10-12)gTg>gGg p.V4G CHOL 12 498253 498253 + Missense_Mutation SNP G G C TCGA-WD-A7RX-01A-12D-A417-09 TCGA-WD-A7RX-10A-01D-A41A-09 g.chr12:498253G>C c.5C>G c.(4-6)gCg>gGg p.A2G COAD 12 394749 394749 + Missense_Mutation SNP T T A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:394749T>A c.4946A>T c.(4945-4947)gAa>gTa p.E1649V COAD 12 394751 394751 + Silent SNP A A T TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr12:394751A>T c.4944T>A c.(4942-4944)gcT>gcA p.A1648A COAD 12 402187 402187 + Missense_Mutation SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:402187T>A c.4604A>T c.(4603-4605)aAg>aTg p.K1535M COAD 12 402279 402279 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:402279C>T c.4512G>A c.(4510-4512)aaG>aaA p.K1504K COAD 12 406271 406271 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:406271C>T c.4170G>A c.(4168-4170)atG>atA p.M1390I COAD 12 406291 406291 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:406291C>T c.4150G>A c.(4150-4152)Gag>Aag p.E1384K COAD 12 416204 416204 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:416204C>T c.3982G>A c.(3982-3984)Gtg>Atg p.V1328M COAD 12 416784 416784 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:416784A>G c.3766T>C c.(3766-3768)Tgg>Cgg p.W1256R COAD 12 416840 416840 + Missense_Mutation SNP G G A TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chr12:416840G>A c.3710C>T c.(3709-3711)cCc>cTc p.P1237L COAD 12 416864 416864 + Missense_Mutation SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr12:416864A>G c.3686T>C c.(3685-3687)cTc>cCc p.L1229P COAD 12 416931 416931 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:416931C>A c.3619G>T c.(3619-3621)Gaa>Taa p.E1207* COAD 12 416949 416949 + Missense_Mutation SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:416949A>G c.3601T>C c.(3601-3603)Tcc>Ccc p.S1201P COAD 12 419069 419069 + Missense_Mutation SNP A A G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr12:419069A>G c.3278T>C c.(3277-3279)gTa>gCa p.V1093A COAD 12 438026 438026 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:438026C>T c.1943G>A c.(1942-1944)cGa>cAa p.R648Q COAD 12 438161 438161 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:438161C>T c.1808G>A c.(1807-1809)cGa>cAa p.R603Q COAD 12 441062 441062 + Missense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:441062A>T c.1696T>A c.(1696-1698)Ttt>Att p.F566I COAD 12 465684 465684 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:465684C>T c.692G>A c.(691-693)aGt>aAt p.S231N COAD 12 472231 472231 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:472231T>G c.570A>C c.(568-570)gaA>gaC p.E190D COAD 12 493230 493230 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:493230C>T c.333G>A c.(331-333)gaG>gaA p.E111E COADREAD 12 394749 394749 + Missense_Mutation SNP T T A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:394749T>A c.4946A>T c.(4945-4947)gAa>gTa p.E1649V COADREAD 12 394751 394751 + Silent SNP A A T TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr12:394751A>T c.4944T>A c.(4942-4944)gcT>gcA p.A1648A COADREAD 12 394797 394797 + Missense_Mutation SNP T T C TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr12:394797T>C c.4898A>G c.(4897-4899)gAt>gGt p.D1633G COADREAD 12 402187 402187 + Missense_Mutation SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:402187T>A c.4604A>T c.(4603-4605)aAg>aTg p.K1535M COADREAD 12 402279 402279 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:402279C>T c.4512G>A c.(4510-4512)aaG>aaA p.K1504K COADREAD 12 406230 406230 + Missense_Mutation SNP G G T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr12:406230G>T c.4211C>A c.(4210-4212)tCt>tAt p.S1404Y COADREAD 12 406271 406271 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:406271C>T c.4170G>A c.(4168-4170)atG>atA p.M1390I COADREAD 12 406291 406291 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:406291C>T c.4150G>A c.(4150-4152)Gag>Aag p.E1384K COADREAD 12 416204 416204 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:416204C>T c.3982G>A c.(3982-3984)Gtg>Atg p.V1328M COADREAD 12 416784 416784 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:416784A>G c.3766T>C c.(3766-3768)Tgg>Cgg p.W1256R COADREAD 12 416835 416835 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:416835G>A c.3715C>T c.(3715-3717)Cgg>Tgg p.R1239W COADREAD 12 416840 416840 + Missense_Mutation SNP G G A TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chr12:416840G>A c.3710C>T c.(3709-3711)cCc>cTc p.P1237L COADREAD 12 416864 416864 + Missense_Mutation SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr12:416864A>G c.3686T>C c.(3685-3687)cTc>cCc p.L1229P COADREAD 12 416931 416931 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:416931C>A c.3619G>T c.(3619-3621)Gaa>Taa p.E1207* COADREAD 12 416949 416949 + Missense_Mutation SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:416949A>G c.3601T>C c.(3601-3603)Tcc>Ccc p.S1201P COADREAD 12 419069 419069 + Missense_Mutation SNP A A G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr12:419069A>G c.3278T>C c.(3277-3279)gTa>gCa p.V1093A COADREAD 12 419112 419112 + Missense_Mutation SNP C C T TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr12:419112C>T c.3235G>A c.(3235-3237)Gac>Aac p.D1079N COADREAD 12 430229 430229 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:430229C>A c.2473G>T c.(2473-2475)Gaa>Taa p.E825* COADREAD 12 438026 438026 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:438026C>T c.1943G>A c.(1942-1944)cGa>cAa p.R648Q COADREAD 12 438067 438067 + Missense_Mutation SNP C C T TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr12:438067C>T c.1902G>A c.(1900-1902)atG>atA p.M634I COADREAD 12 438161 438161 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:438161C>T c.1808G>A c.(1807-1809)cGa>cAa p.R603Q COADREAD 12 441062 441062 + Missense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:441062A>T c.1696T>A c.(1696-1698)Ttt>Att p.F566I COADREAD 12 443441 443441 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:443441C>T c.1456G>A c.(1456-1458)Gat>Aat p.D486N COADREAD 12 465663 465663 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:465663T>G c.713A>C c.(712-714)aAa>aCa p.K238T COADREAD 12 465684 465684 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:465684C>T c.692G>A c.(691-693)aGt>aAt p.S231N COADREAD 12 472231 472231 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:472231T>G c.570A>C c.(568-570)gaA>gaC p.E190D COADREAD 12 493230 493230 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:493230C>T c.333G>A c.(331-333)gaG>gaA p.E111E ESCA 12 404795 404795 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 g.chr12:404795G>A c.4399C>T c.(4399-4401)Cgg>Tgg p.R1467W ESCA 12 404831 404831 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr12:404831G>T c.4363C>A c.(4363-4365)Ctg>Atg p.L1455M ESCA 12 419007 419007 + Missense_Mutation SNP C C T TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr12:419007C>T c.3340G>A c.(3340-3342)Gag>Aag p.E1114K ESCA 12 419113 419113 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr12:419113G>A c.3234C>T c.(3232-3234)acC>acT p.T1078T ESCA 12 431719 431719 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr12:431719G>A c.2290C>T c.(2290-2292)Cga>Tga p.R764* ESCA 12 438067 438067 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr12:438067C>T c.1902G>A c.(1900-1902)atG>atA p.M634I GBM 12 402172 402172 + Nonsense_Mutation SNP A A C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr12:402172A>C c.4619T>G c.(4618-4620)tTa>tGa p.L1540* GBM 12 416884 416884 + Silent SNP C C T TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr12:416884C>T c.3666G>A c.(3664-3666)agG>agA p.R1222R GBM 12 416979 416979 + Missense_Mutation SNP G G A TCGA-76-4934-01A-01D-1486-08 TCGA-76-4934-10A-01D-1486-08 g.chr12:416979G>A c.3571C>T c.(3571-3573)Ctt>Ttt p.L1191F GBMLGG 12 402172 402172 + Nonsense_Mutation SNP A A C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr12:402172A>C c.4619T>G c.(4618-4620)tTa>tGa p.L1540* GBMLGG 12 416169 416169 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:416169A>G c.4017T>C c.(4015-4017)gaT>gaC p.D1339D GBMLGG 12 416884 416884 + Silent SNP C C T TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr12:416884C>T c.3666G>A c.(3664-3666)agG>agA p.R1222R GBMLGG 12 416979 416979 + Missense_Mutation SNP G G A TCGA-76-4934-01A-01D-1486-08 TCGA-76-4934-10A-01D-1486-08 g.chr12:416979G>A c.3571C>T c.(3571-3573)Ctt>Ttt p.L1191F GBMLGG 12 419090 419090 + Missense_Mutation SNP C C T TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr12:419090C>T c.3257G>A c.(3256-3258)gGc>gAc p.G1086D GBMLGG 12 442740 442740 + Silent SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 g.chr12:442740G>C c.1566C>G c.(1564-1566)gcC>gcG p.A522A GBMLGG 12 459813 459813 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:459813G>A c.1282C>T c.(1282-1284)Cgg>Tgg p.R428W GBMLGG 12 464374 464374 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:464374C>T c.820G>A c.(820-822)Gca>Aca p.A274T HNSC 12 406330 406330 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 g.chr12:406330G>A c.4111C>T c.(4111-4113)Ccc>Tcc p.P1371S HNSC 12 416876 416876 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr12:416876G>A c.3674C>T c.(3673-3675)aCt>aTt p.T1225I HNSC 12 416981 416981 + Frame_Shift_Del DEL G G - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 g.chr12:416981delG c.3569delC c.(3568-3570)cctfs p.P1190fs HNSC 12 422318 422318 + Missense_Mutation SNP T T A TCGA-CV-A6JN-01A-11D-A31L-08 TCGA-CV-A6JN-10A-01D-A31J-08 g.chr12:422318T>A c.2940A>T c.(2938-2940)gaA>gaT p.E980D HNSC 12 427289 427289 + Silent SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr12:427289C>T c.2880G>A c.(2878-2880)aaG>aaA p.K960K HNSC 12 438016 438016 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:438016C>T c.1953G>A c.(1951-1953)gaG>gaA p.E651E HNSC 12 459895 459895 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:459895G>A c.1200C>T c.(1198-1200)agC>agT p.S400S HNSC 12 463358 463358 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr12:463358C>T c.913G>A c.(913-915)Gaa>Aaa p.E305K HNSC 12 464365 464365 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr12:464365T>C c.829A>G c.(829-831)Atg>Gtg p.M277V HNSC 12 475139 475139 + Silent SNP G G C TCGA-CR-7380-01A-11D-2012-08 TCGA-CR-7380-10A-01D-2013-08 g.chr12:475139G>C c.498C>G c.(496-498)ctC>ctG p.L166L KICH 12 416696 416696 + Missense_Mutation SNP T T C TCGA-KL-8341-01A-11D-2310-10 TCGA-KL-8341-11A-01D-2310-10 g.chr12:416696T>C c.3854A>G c.(3853-3855)gAa>gGa p.E1285G KIPAN 12 401948 401948 + Missense_Mutation SNP A A G TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr12:401948A>G c.4843T>C c.(4843-4845)Tgc>Cgc p.C1615R KIPAN 12 404935 404935 + Missense_Mutation SNP G G C TCGA-BQ-5875-01A-11D-1589-08 TCGA-BQ-5875-11A-01D-1589-08 g.chr12:404935G>C c.4259C>G c.(4258-4260)cCt>cGt p.P1420R KIPAN 12 416170 416170 + Missense_Mutation SNP T T A TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr12:416170T>A c.4016A>T c.(4015-4017)gAt>gTt p.D1339V KIPAN 12 416696 416696 + Missense_Mutation SNP T T C TCGA-KL-8341-01A-11D-2310-10 TCGA-KL-8341-11A-01D-2310-10 g.chr12:416696T>C c.3854A>G c.(3853-3855)gAa>gGa p.E1285G KIPAN 12 427414 427417 + Frame_Shift_Del DEL AAGT AAGT - TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr12:427414_427417delAAGT c.2752_2755delACTT c.(2752-2757)actttgfs p.TL918fs KIPAN 12 442697 442697 + Missense_Mutation SNP C C T TCGA-B0-5094-01A-01D-1421-08 TCGA-B0-5094-11A-01D-1421-08 g.chr12:442697C>T c.1609G>A c.(1609-1611)Gtt>Att p.V537I KIPAN 12 442728 442728 + Silent SNP A A G TCGA-BP-4981-01A-01D-1462-08 TCGA-BP-4981-11A-01D-1462-08 g.chr12:442728A>G c.1578T>C c.(1576-1578)ttT>ttC p.F526F KIRC 12 416170 416170 + Missense_Mutation SNP T T A TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr12:416170T>A c.4016A>T c.(4015-4017)gAt>gTt p.D1339V KIRC 12 442697 442697 + Missense_Mutation SNP C C T TCGA-B0-5094-01A-01D-1421-08 TCGA-B0-5094-11A-01D-1421-08 g.chr12:442697C>T c.1609G>A c.(1609-1611)Gtt>Att p.V537I KIRC 12 442728 442728 + Silent SNP A A G TCGA-BP-4981-01A-01D-1462-08 TCGA-BP-4981-11A-01D-1462-08 g.chr12:442728A>G c.1578T>C c.(1576-1578)ttT>ttC p.F526F KIRP 12 401948 401948 + Missense_Mutation SNP A A G TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr12:401948A>G c.4843T>C c.(4843-4845)Tgc>Cgc p.C1615R KIRP 12 404935 404935 + Missense_Mutation SNP G G C TCGA-BQ-5875-01A-11D-1589-08 TCGA-BQ-5875-11A-01D-1589-08 g.chr12:404935G>C c.4259C>G c.(4258-4260)cCt>cGt p.P1420R KIRP 12 427414 427417 + Frame_Shift_Del DEL AAGT AAGT - TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr12:427414_427417delAAGT c.2752_2755delACTT c.(2752-2757)actttgfs p.TL918fs LGG 12 416169 416169 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:416169A>G c.4017T>C c.(4015-4017)gaT>gaC p.D1339D LGG 12 419090 419090 + Missense_Mutation SNP C C T TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr12:419090C>T c.3257G>A c.(3256-3258)gGc>gAc p.G1086D LGG 12 442740 442740 + Silent SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 g.chr12:442740G>C c.1566C>G c.(1564-1566)gcC>gcG p.A522A LGG 12 459813 459813 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:459813G>A c.1282C>T c.(1282-1284)Cgg>Tgg p.R428W LGG 12 464374 464374 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:464374C>T c.820G>A c.(820-822)Gca>Aca p.A274T LIHC 12 443421 443421 + Missense_Mutation SNP G G C TCGA-ED-A7XP-01A-11D-A34Z-10 TCGA-ED-A7XP-10A-01D-A34Z-10 g.chr12:443421G>C c.1476C>G c.(1474-1476)atC>atG p.I492M LUAD 12 401983 401983 + Missense_Mutation SNP G G C TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr12:401983G>C c.4808C>G c.(4807-4809)tCt>tGt p.S1603C LUAD 12 402090 402090 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr12:402090C>A c.4701G>T c.(4699-4701)aaG>aaT p.K1567N LUAD 12 404814 404814 + Silent SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr12:404814G>A c.4380C>T c.(4378-4380)gaC>gaT p.D1460D LUAD 12 406210 406210 + Nonsense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr12:406210G>A c.4231C>T c.(4231-4233)Caa>Taa p.Q1411* LUAD 12 416662 416662 + Missense_Mutation SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr12:416662G>C c.3888C>G c.(3886-3888)atC>atG p.I1296M LUAD 12 419030 419030 + Missense_Mutation SNP T T A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 g.chr12:419030T>A c.3317A>T c.(3316-3318)gAc>gTc p.D1106V LUAD 12 419077 419077 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr12:419077C>T c.3270G>A c.(3268-3270)agG>agA p.R1090R LUAD 12 419116 419116 + Silent SNP C C A TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr12:419116C>A c.3231G>T c.(3229-3231)cgG>cgT p.R1077R LUAD 12 420113 420113 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr12:420113C>T c.3154G>A c.(3154-3156)Gca>Aca p.A1052T LUAD 12 427406 427406 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr12:427406G>A c.2763C>T c.(2761-2763)gtC>gtT p.V921V LUAD 12 427541 427541 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr12:427541C>T c.2628G>A c.(2626-2628)atG>atA p.M876I LUAD 12 432318 432318 + Missense_Mutation SNP C C A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr12:432318C>A c.2205G>T c.(2203-2205)agG>agT p.R735S LUAD 12 442778 442778 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 g.chr12:442778C>A c.1528G>T c.(1528-1530)Gct>Tct p.A510S LUAD 12 443549 443558 + Frame_Shift_Del DEL CAGGCATGTT CAGGCATGTT - TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr12:443549_443558delCAGGCATGTT c.1339_1348delAACATGCCTG c.(1339-1350)aacatgcctgtcfs p.NMPV447fs LUAD 12 463298 463298 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 g.chr12:463298G>A c.973C>T c.(973-975)Cct>Tct p.P325S LUAD 12 493250 493250 + Missense_Mutation SNP G G C TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr12:493250G>C c.313C>G c.(313-315)Ctg>Gtg p.L105V LUAD 12 498227 498227 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr12:498227C>G c.31G>C c.(31-33)Gcg>Ccg p.A11P LUSC 12 401958 401958 + Silent SNP T T G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr12:401958T>G c.4833A>C c.(4831-4833)gcA>gcC p.A1611A LUSC 12 406233 406233 + Missense_Mutation SNP G G A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr12:406233G>A c.4208C>T c.(4207-4209)tCt>tTt p.S1403F LUSC 12 416829 416829 + Missense_Mutation SNP G G A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr12:416829G>A c.3721C>T c.(3721-3723)Cct>Tct p.P1241S LUSC 12 427394 427394 + Silent SNP C C G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr12:427394C>G c.2775G>C c.(2773-2775)ctG>ctC p.L925L LUSC 12 441100 441100 + Missense_Mutation SNP T T C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr12:441100T>C c.1658A>G c.(1657-1659)tAc>tGc p.Y553C LUSC 12 461444 461444 + Missense_Mutation SNP C C A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr12:461444C>A c.1076G>T c.(1075-1077)cGa>cTa p.R359L LUSC 12 464404 464404 + Nonsense_Mutation SNP G G A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr12:464404G>A c.790C>T c.(790-792)Cga>Tga p.R264* LUSC 12 475139 475139 + Silent SNP G G C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr12:475139G>C c.498C>G c.(496-498)ctC>ctG p.L166L LUSC 12 475168 475168 + Missense_Mutation SNP G G C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr12:475168G>C c.469C>G c.(469-471)Ctt>Gtt p.L157V LUSC 12 475235 475235 + Silent SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:475235G>T c.402C>A c.(400-402)acC>acA p.T134T LUSC 12 495116 495116 + Missense_Mutation SNP C C G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr12:495116C>G c.190G>C c.(190-192)Gaa>Caa p.E64Q OV 12 404852 404852 + Missense_Mutation SNP G G A TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chr12:404852G>A c.4342C>T c.(4342-4344)Ctt>Ttt p.L1448F OV 12 416865 416865 + Missense_Mutation SNP G G A TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr12:416865G>A c.3685C>T c.(3685-3687)Ctc>Ttc p.L1229F OV 12 438006 438006 + Missense_Mutation SNP G G C TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 g.chr12:438006G>C c.1963C>G c.(1963-1965)Cag>Gag p.Q655E PAAD 12 432350 432350 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:432350G>A c.2173C>T c.(2173-2175)Ctc>Ttc p.L725F PAAD 12 498206 498206 + Missense_Mutation SNP C C G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr12:498206C>G c.52G>C c.(52-54)Gag>Cag p.E18Q PCPG 12 464375 464375 + Silent SNP G G A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 g.chr12:464375G>A c.819C>T c.(817-819)gaC>gaT p.D273D PRAD 12 404916 404916 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:404916C>T c.4278G>A c.(4276-4278)gtG>gtA p.V1426V PRAD 12 416835 416835 + Missense_Mutation SNP G G A TCGA-KK-A7B1-01A-11D-A32B-08 TCGA-KK-A7B1-11A-12D-A329-08 g.chr12:416835G>A c.3715C>T c.(3715-3717)Cgg>Tgg p.R1239W PRAD 12 416934 416934 + Nonsense_Mutation SNP T T A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 g.chr12:416934T>A c.3616A>T c.(3616-3618)Aaa>Taa p.K1206* PRAD 12 416960 416960 + Missense_Mutation SNP T T G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr12:416960T>G c.3590A>C c.(3589-3591)cAa>cCa p.Q1197P PRAD 12 417035 417035 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 g.chr12:417035C>A c.3515G>T c.(3514-3516)gGg>gTg p.G1172V PRAD 12 443455 443456 + Frame_Shift_Ins INS - - A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:443455_443456insA c.1441_1442insT c.(1441-1443)tgcfs p.C481fs PRAD 12 464374 464374 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:464374C>T c.820G>A c.(820-822)Gca>Aca p.A274T READ 12 394797 394797 + Missense_Mutation SNP T T C TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr12:394797T>C c.4898A>G c.(4897-4899)gAt>gGt p.D1633G READ 12 406230 406230 + Missense_Mutation SNP G G T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr12:406230G>T c.4211C>A c.(4210-4212)tCt>tAt p.S1404Y READ 12 416835 416835 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:416835G>A c.3715C>T c.(3715-3717)Cgg>Tgg p.R1239W READ 12 419112 419112 + Missense_Mutation SNP C C T TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr12:419112C>T c.3235G>A c.(3235-3237)Gac>Aac p.D1079N READ 12 430229 430229 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:430229C>A c.2473G>T c.(2473-2475)Gaa>Taa p.E825* READ 12 438067 438067 + Missense_Mutation SNP C C T TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr12:438067C>T c.1902G>A c.(1900-1902)atG>atA p.M634I READ 12 443441 443441 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:443441C>T c.1456G>A c.(1456-1458)Gat>Aat p.D486N READ 12 465663 465663 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:465663T>G c.713A>C c.(712-714)aAa>aCa p.K238T SARC 12 464396 464397 + Frame_Shift_Del DEL TC TC - TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 g.chr12:464396_464397delTC c.797_798delGA c.(796-798)cgafs p.R266fs SKCM 12 394648 394648 + Missense_Mutation SNP T T C TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:394648T>C c.5047A>G c.(5047-5049)Atg>Gtg p.M1683V SKCM 12 402015 402015 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr12:402015G>A c.4776C>T c.(4774-4776)ccC>ccT p.P1592P SKCM 12 402016 402016 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr12:402016G>A c.4775C>T c.(4774-4776)cCc>cTc p.P1592L SKCM 12 404911 404911 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:404911C>T c.4283G>A c.(4282-4284)cGa>cAa p.R1428Q SKCM 12 404935 404935 + Missense_Mutation SNP G G A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 g.chr12:404935G>A c.4259C>T c.(4258-4260)cCt>cTt p.P1420L SKCM 12 416839 416839 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr12:416839G>A c.3711C>T c.(3709-3711)ccC>ccT p.P1237P SKCM 12 416919 416919 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr12:416919G>A c.3631C>T c.(3631-3633)Ctt>Ttt p.L1211F SKCM 12 416948 416948 + Missense_Mutation SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr12:416948G>A c.3602C>T c.(3601-3603)tCc>tTc p.S1201F SKCM 12 417100 417100 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr12:417100G>A c.3450C>T c.(3448-3450)gcC>gcT p.A1150A SKCM 12 431694 431694 + Missense_Mutation SNP T T G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr12:431694T>G c.2315A>C c.(2314-2316)gAt>gCt p.D772A SKCM 12 431722 431722 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:431722A>C c.2287T>G c.(2287-2289)Ttg>Gtg p.L763V SKCM 12 432368 432368 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr12:432368G>A c.2155C>T c.(2155-2157)Cgc>Tgc p.R719C SKCM 12 432786 432786 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:432786G>A c.2130C>T c.(2128-2130)ccC>ccT p.P710P SKCM 12 438098 438098 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr12:438098G>A c.1871C>T c.(1870-1872)cCa>cTa p.P624L SKCM 12 438196 438196 + Splice_Site SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:438196C>T c.e14-1 SKCM 12 459853 459853 + Silent SNP G G A TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr12:459853G>A c.1242C>T c.(1240-1242)tcC>tcT p.S414S SKCM 12 459854 459854 + Missense_Mutation SNP G G C TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr12:459854G>C c.1241C>G c.(1240-1242)tCc>tGc p.S414C SKCM 12 463244 463244 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:463244C>T c.1027G>A c.(1027-1029)Gag>Aag p.E343K SKCM 12 463297 463297 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:463297G>A c.974C>T c.(973-975)cCt>cTt p.P325L SKCM 12 493221 493221 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:493221G>A c.342C>T c.(340-342)atC>atT p.I114I

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 404847 404847 single base substitution C T missense_variant M1449I 4347G>A BLCA-CN 12 404847 404847 single base substitution C T upstream_gene_variant BLCA-CN 12 432290 432290 single base substitution G A downstream_gene_variant BLCA-CN 12 432290 432290 single base substitution G A exon_variant BLCA-CN 12 432290 432290 single base substitution G A missense_variant R364C 1090C>T BLCA-CN 12 432290 432290 single base substitution G A missense_variant R745C 2233C>T BLCA-CN 12 432917 432917 single base substitution C G exon_variant BLCA-CN 12 432917 432917 single base substitution C G missense_variant E286Q 856G>C BLCA-CN 12 432917 432917 single base substitution C G missense_variant E667Q 1999G>C BLCA-CN 12 432917 432917 single base substitution C G upstream_gene_variant BLCA-CN 12 465621 465621 single base substitution G A intron_variant BLCA-CN 12 465621 465621 single base substitution G A missense_variant A252V 755C>T BLCA-US 12 416853 416853 single base substitution G A downstream_gene_variant BLCA-US 12 416853 416853 single base substitution G A exon_variant BLCA-US 12 416853 416853 single base substitution G A missense_variant L1233F 3697C>T BLCA-US 12 417057 417057 single base substitution T C downstream_gene_variant BLCA-US 12 417057 417057 single base substitution T C missense_variant I1165V 3493A>G BLCA-US 12 417057 417057 single base substitution T C upstream_gene_variant BLCA-US 12 420231 420231 single base substitution C G exon_variant BLCA-US 12 420231 420231 single base substitution C G splice_acceptor_variant BLCA-US 12 420231 420231 single base substitution C G upstream_gene_variant BLCA-US 12 427453 427453 single base substitution C A downstream_gene_variant BLCA-US 12 427453 427453 single base substitution C A stop_gained E525* 1573G>T BLCA-US 12 427453 427453 single base substitution C A stop_gained E906* 2716G>T BLCA-US 12 431654 431654 single base substitution C T downstream_gene_variant BLCA-US 12 431654 431654 single base substitution C T exon_variant BLCA-US 12 431654 431654 single base substitution C T synonymous_variant R404R 1212G>A BLCA-US 12 431654 431654 single base substitution C T synonymous_variant R785R 2355G>A BLCA-US 12 442723 442723 single base substitution G C exon_variant BLCA-US 12 442723 442723 single base substitution G C missense_variant S147C 440C>G BLCA-US 12 442723 442723 single base substitution G C missense_variant S528C 1583C>G BLCA-US 12 442723 442723 single base substitution G C upstream_gene_variant BOCA-FR 12 498800 498800 single base substitution T C upstream_gene_variant BRCA-EU 12 384388 384388 single base substitution A C downstream_gene_variant BRCA-EU 12 384579 384579 single base substitution C T downstream_gene_variant BRCA-EU 12 384752 384752 single base substitution T G downstream_gene_variant BRCA-EU 12 384879 384879 single base substitution G A downstream_gene_variant BRCA-EU 12 384892 384892 single base substitution G C downstream_gene_variant BRCA-EU 12 384931 384931 single base substitution G C downstream_gene_variant BRCA-EU 12 385363 385363 single base substitution G C downstream_gene_variant BRCA-EU 12 386524 386524 single base substitution C T downstream_gene_variant BRCA-EU 12 387185 387185 single base substitution G C downstream_gene_variant BRCA-EU 12 387452 387452 single base substitution G A downstream_gene_variant BRCA-EU 12 388022 388022 single base substitution A C downstream_gene_variant BRCA-EU 12 388210 388210 single base substitution G A downstream_gene_variant BRCA-EU 12 388835 388835 single base substitution T C downstream_gene_variant BRCA-EU 12 390703 390703 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 12 390703 390703 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 391026 391026 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 391026 391026 single base substitution G A downstream_gene_variant BRCA-EU 12 391126 391126 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 391126 391126 single base substitution C A downstream_gene_variant BRCA-EU 12 391571 391571 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 391571 391571 single base substitution A T downstream_gene_variant BRCA-EU 12 392220 392220 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 392220 392220 single base substitution G A downstream_gene_variant BRCA-EU 12 392354 392354 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 392354 392354 single base substitution C T downstream_gene_variant BRCA-EU 12 392715 392715 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 392715 392715 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 393438 393438 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 393438 393438 single base substitution G A downstream_gene_variant BRCA-EU 12 395022 395022 single base substitution G A downstream_gene_variant BRCA-EU 12 395022 395022 single base substitution G A intron_variant BRCA-EU 12 397580 397580 single base substitution C A intron_variant BRCA-EU 12 400585 400585 single base substitution C G intron_variant BRCA-EU 12 401202 401202 single base substitution G A intron_variant BRCA-EU 12 402963 402963 single base substitution G T intron_variant BRCA-EU 12 402963 402963 single base substitution G T upstream_gene_variant BRCA-EU 12 403368 403368 single base substitution T C intron_variant BRCA-EU 12 403368 403368 single base substitution T C upstream_gene_variant BRCA-EU 12 404989 404989 deletion of <=200bp A - intron_variant BRCA-EU 12 404989 404989 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 405256 405256 single base substitution G A intron_variant BRCA-EU 12 405256 405256 single base substitution G A upstream_gene_variant BRCA-EU 12 405646 405646 single base substitution C A intron_variant BRCA-EU 12 405646 405646 single base substitution C A upstream_gene_variant BRCA-EU 12 406149 406149 single base substitution T C intron_variant BRCA-EU 12 406149 406149 single base substitution T C upstream_gene_variant BRCA-EU 12 406925 406925 deletion of <=200bp A - intron_variant BRCA-EU 12 406925 406925 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 407558 407558 single base substitution A G intron_variant BRCA-EU 12 408105 408105 single base substitution G T intron_variant BRCA-EU 12 408267 408267 single base substitution G C intron_variant BRCA-EU 12 408835 408835 single base substitution T C intron_variant BRCA-EU 12 409069 409069 single base substitution G C intron_variant BRCA-EU 12 409867 409867 insertion of <=200bp - A intron_variant BRCA-EU 12 409891 409891 single base substitution C A intron_variant BRCA-EU 12 410002 410002 single base substitution G A intron_variant BRCA-EU 12 410480 410480 deletion of <=200bp A - intron_variant BRCA-EU 12 412003 412003 single base substitution C G downstream_gene_variant BRCA-EU 12 412003 412003 single base substitution C G intron_variant BRCA-EU 12 412383 412383 single base substitution G A downstream_gene_variant BRCA-EU 12 412383 412383 single base substitution G A intron_variant BRCA-EU 12 412852 412852 single base substitution C G downstream_gene_variant BRCA-EU 12 412852 412852 single base substitution C G intron_variant BRCA-EU 12 413463 413463 single base substitution C T downstream_gene_variant BRCA-EU 12 413463 413463 single base substitution C T intron_variant BRCA-EU 12 414471 414472 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 12 414471 414472 deletion of <=200bp TC - intron_variant BRCA-EU 12 415892 415892 single base substitution G C downstream_gene_variant BRCA-EU 12 415892 415892 single base substitution G C intron_variant BRCA-EU 12 416710 416710 single base substitution G A downstream_gene_variant BRCA-EU 12 416710 416710 single base substitution G A exon_variant BRCA-EU 12 416710 416710 single base substitution G A synonymous_variant S1280S 3840C>T BRCA-EU 12 417529 417529 single base substitution C A downstream_gene_variant BRCA-EU 12 417529 417529 single base substitution C A intron_variant BRCA-EU 12 417529 417529 single base substitution C A upstream_gene_variant BRCA-EU 12 419017 419017 single base substitution C T downstream_gene_variant BRCA-EU 12 419017 419017 single base substitution C T synonymous_variant L1110L 3330G>A BRCA-EU 12 419017 419017 single base substitution C T upstream_gene_variant BRCA-EU 12 419391 419391 single base substitution C G intron_variant BRCA-EU 12 419391 419391 single base substitution C G upstream_gene_variant BRCA-EU 12 420825 420826 deletion of <=200bp AG - intron_variant BRCA-EU 12 420825 420826 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 12 423831 423831 single base substitution C G intron_variant BRCA-EU 12 423831 423831 single base substitution C G upstream_gene_variant BRCA-EU 12 424052 424052 single base substitution G T intron_variant BRCA-EU 12 424052 424052 single base substitution G T upstream_gene_variant BRCA-EU 12 425451 425452 deletion of <=200bp TC - intron_variant BRCA-EU 12 426918 426918 single base substitution A G downstream_gene_variant BRCA-EU 12 426918 426918 single base substitution A G intron_variant BRCA-EU 12 427077 427077 single base substitution G C downstream_gene_variant BRCA-EU 12 427077 427077 single base substitution G C intron_variant BRCA-EU 12 430623 430640 deletion of <=200bp CCTCTGAAAGTGCTTCAA - downstream_gene_variant BRCA-EU 12 430623 430640 deletion of <=200bp CCTCTGAAAGTGCTTCAA - intron_variant BRCA-EU 12 430735 430735 single base substitution C T downstream_gene_variant BRCA-EU 12 430735 430735 single base substitution C T intron_variant BRCA-EU 12 431053 431053 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 431053 431053 deletion of <=200bp A - intron_variant BRCA-EU 12 431534 431534 single base substitution C G downstream_gene_variant BRCA-EU 12 431534 431534 single base substitution C G exon_variant BRCA-EU 12 431534 431534 single base substitution C G intron_variant BRCA-EU 12 432182 432182 single base substitution T G downstream_gene_variant BRCA-EU 12 432182 432182 single base substitution T G intron_variant BRCA-EU 12 433465 433465 deletion of <=200bp A - intron_variant BRCA-EU 12 433465 433465 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 434558 434558 deletion of <=200bp T - intron_variant BRCA-EU 12 434558 434558 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 435497 435497 single base substitution G C intron_variant BRCA-EU 12 435497 435497 single base substitution G C upstream_gene_variant BRCA-EU 12 437488 437488 single base substitution G C downstream_gene_variant BRCA-EU 12 437488 437488 single base substitution G C intron_variant BRCA-EU 12 437496 437496 single base substitution T C downstream_gene_variant BRCA-EU 12 437496 437496 single base substitution T C intron_variant BRCA-EU 12 438724 438724 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 438724 438724 insertion of <=200bp - T intron_variant BRCA-EU 12 438724 438724 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 441343 441343 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 441343 441343 deletion of <=200bp A - intron_variant BRCA-EU 12 441343 441343 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 449184 449184 single base substitution G T intron_variant BRCA-EU 12 449360 449360 single base substitution G C intron_variant BRCA-EU 12 450735 450735 single base substitution T C intron_variant BRCA-EU 12 452801 452801 single base substitution G C intron_variant BRCA-EU 12 453032 453032 single base substitution A C intron_variant BRCA-EU 12 453796 453796 single base substitution G C intron_variant BRCA-EU 12 454079 454079 single base substitution G T intron_variant BRCA-EU 12 454636 454636 single base substitution G A intron_variant BRCA-EU 12 454637 454637 single base substitution C A intron_variant BRCA-EU 12 455451 455451 deletion of <=200bp A - intron_variant BRCA-EU 12 456284 456284 single base substitution A T intron_variant BRCA-EU 12 456928 456928 single base substitution T C intron_variant BRCA-EU 12 457406 457406 single base substitution C T intron_variant BRCA-EU 12 458468 458468 single base substitution G A intron_variant BRCA-EU 12 459360 459360 single base substitution T C intron_variant BRCA-EU 12 462234 462234 single base substitution G A intron_variant BRCA-EU 12 462454 462454 single base substitution C G intron_variant BRCA-EU 12 464688 464688 single base substitution C T intron_variant BRCA-EU 12 464903 464903 single base substitution C G intron_variant BRCA-EU 12 465897 465897 single base substitution T A intron_variant BRCA-EU 12 466220 466220 single base substitution G A intron_variant BRCA-EU 12 467540 467540 single base substitution A C intron_variant BRCA-EU 12 467768 467770 deletion of <=200bp CAG - intron_variant BRCA-EU 12 468074 468074 single base substitution T C intron_variant BRCA-EU 12 468310 468310 single base substitution G A intron_variant BRCA-EU 12 468374 468374 single base substitution G C intron_variant BRCA-EU 12 468418 468418 single base substitution A G intron_variant BRCA-EU 12 469023 469023 single base substitution G A intron_variant BRCA-EU 12 472118 472118 single base substitution G C downstream_gene_variant BRCA-EU 12 472118 472118 single base substitution G C intron_variant BRCA-EU 12 477097 477097 single base substitution G C intron_variant BRCA-EU 12 480682 480682 single base substitution G C intron_variant BRCA-EU 12 481439 481439 single base substitution A G intron_variant BRCA-EU 12 483107 483107 single base substitution G C intron_variant BRCA-EU 12 484317 484317 single base substitution G A intron_variant BRCA-EU 12 484605 484605 single base substitution G A intron_variant BRCA-EU 12 485208 485208 single base substitution G C intron_variant BRCA-EU 12 485786 485786 single base substitution G A intron_variant BRCA-EU 12 486002 486002 single base substitution A C intron_variant BRCA-EU 12 488298 488298 single base substitution C A downstream_gene_variant BRCA-EU 12 488298 488298 single base substitution C A intron_variant BRCA-EU 12 489566 489566 single base substitution G C downstream_gene_variant BRCA-EU 12 489566 489566 single base substitution G C intron_variant BRCA-EU 12 491471 491471 single base substitution C A downstream_gene_variant BRCA-EU 12 491471 491471 single base substitution C A intron_variant BRCA-EU 12 492180 492180 single base substitution A C downstream_gene_variant BRCA-EU 12 492180 492180 single base substitution A C intron_variant BRCA-EU 12 492279 492279 single base substitution G T downstream_gene_variant BRCA-EU 12 492279 492279 single base substitution G T intron_variant BRCA-EU 12 492703 492703 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 492703 492703 deletion of <=200bp A - intron_variant BRCA-EU 12 493669 493669 single base substitution G C intron_variant BRCA-EU 12 494115 494115 single base substitution G T intron_variant BRCA-EU 12 495737 495737 single base substitution G A intron_variant BRCA-EU 12 495941 495941 single base substitution G C intron_variant BRCA-EU 12 496221 496221 single base substitution G C intron_variant BRCA-EU 12 496237 496237 single base substitution C A intron_variant BRCA-EU 12 496515 496515 deletion of <=200bp T - intron_variant BRCA-EU 12 498432 498432 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 498432 498432 single base substitution C T upstream_gene_variant BRCA-EU 12 498571 498571 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 498571 498571 single base substitution C T upstream_gene_variant BRCA-EU 12 499672 499672 single base substitution G A upstream_gene_variant BRCA-EU 12 500959 500959 single base substitution C T upstream_gene_variant BRCA-EU 12 501199 501199 single base substitution C A upstream_gene_variant BRCA-EU 12 501707 501707 single base substitution C T upstream_gene_variant BRCA-EU 12 502278 502278 single base substitution T G upstream_gene_variant BRCA-EU 12 502454 502454 single base substitution T A upstream_gene_variant BRCA-EU 12 502805 502805 single base substitution C T upstream_gene_variant BRCA-EU 12 503524 503524 single base substitution C G upstream_gene_variant BRCA-FR 12 387185 387185 single base substitution G C downstream_gene_variant BRCA-FR 12 391537 391537 single base substitution G A 3_prime_UTR_variant BRCA-FR 12 391537 391537 single base substitution G A downstream_gene_variant BRCA-FR 12 392220 392220 single base substitution G A 3_prime_UTR_variant BRCA-FR 12 392220 392220 single base substitution G A downstream_gene_variant BRCA-FR 12 409069 409069 single base substitution G C intron_variant BRCA-FR 12 449360 449360 single base substitution G C intron_variant BRCA-FR 12 453796 453796 single base substitution G C intron_variant BRCA-FR 12 456284 456284 single base substitution A T intron_variant BRCA-FR 12 463392 463392 single base substitution G A intron_variant BRCA-FR 12 463392 463392 single base substitution G A synonymous_variant L293L 879C>T BRCA-FR 12 477097 477097 single base substitution G C intron_variant BRCA-FR 12 502761 502761 single base substitution G A upstream_gene_variant BRCA-UK 12 393022 393022 single base substitution G C 3_prime_UTR_variant BRCA-UK 12 393022 393022 single base substitution G C downstream_gene_variant BRCA-UK 12 435085 435085 single base substitution C T intron_variant BRCA-UK 12 435085 435085 single base substitution C T upstream_gene_variant BRCA-UK 12 453032 453032 single base substitution A C intron_variant BRCA-UK 12 453253 453253 single base substitution G C intron_variant BRCA-UK 12 453378 453378 single base substitution G A intron_variant BRCA-UK 12 459792 459792 single base substitution C T intron_variant BRCA-UK 12 459792 459792 single base substitution C T missense_variant E435K 1303G>A BRCA-UK 12 472250 472250 single base substitution G A downstream_gene_variant BRCA-UK 12 472250 472250 single base substitution G A intron_variant BRCA-UK 12 472250 472250 single base substitution G A missense_variant P184L 551C>T BRCA-UK 12 498163 498163 deletion of <=200bp G - frameshift_variant P32 BRCA-UK 12 498163 498163 deletion of <=200bp G - upstream_gene_variant BRCA-US 12 394653 394653 single base substitution A G downstream_gene_variant BRCA-US 12 394653 394653 single base substitution A G exon_variant BRCA-US 12 394653 394653 single base substitution A G missense_variant L1681P 5042T>C BRCA-US 12 404772 404772 single base substitution T G synonymous_variant P1474P 4422A>C BRCA-US 12 404772 404772 single base substitution T G upstream_gene_variant BRCA-US 12 406343 406343 single base substitution A G synonymous_variant S1366S 4098T>C BRCA-US 12 406343 406343 single base substitution A G upstream_gene_variant BRCA-US 12 416953 416953 deletion of <=200bp T - downstream_gene_variant BRCA-US 12 416953 416953 deletion of <=200bp T - frameshift_variant K1199 BRCA-US 12 416953 416953 deletion of <=200bp T - upstream_gene_variant BRCA-US 12 427354 427354 single base substitution C G downstream_gene_variant BRCA-US 12 427354 427354 single base substitution C G missense_variant E558Q 1672G>C BRCA-US 12 427354 427354 single base substitution C G missense_variant E939Q 2815G>C BRCA-US 12 432248 432248 insertion of <=200bp - T downstream_gene_variant BRCA-US 12 432248 432248 insertion of <=200bp - T frameshift_variant D378E? BRCA-US 12 432248 432248 insertion of <=200bp - T frameshift_variant D759E? BRCA-US 12 432248 432248 insertion of <=200bp - T splice_region_variant BRCA-US 12 432896 432896 single base substitution G A exon_variant BRCA-US 12 432896 432896 single base substitution G A missense_variant R293W 877C>T BRCA-US 12 432896 432896 single base substitution G A missense_variant R674W 2020C>T BRCA-US 12 432896 432896 single base substitution G A upstream_gene_variant BRCA-US 12 464403 464403 single base substitution C T intron_variant BRCA-US 12 464403 464403 single base substitution C T missense_variant R264Q 791G>A BRCA-US 12 465607 465607 single base substitution C G intron_variant BRCA-US 12 465607 465607 single base substitution C G missense_variant D257H 769G>C BRCA-US 12 465641 465641 single base substitution C T intron_variant BRCA-US 12 465641 465641 single base substitution C T synonymous_variant G245G 735G>A BRCA-US 12 493214 493214 single base substitution G T intron_variant BRCA-US 12 493214 493214 single base substitution G T missense_variant L117M 349C>A BRCA-US 12 493214 493214 single base substitution G T missense_variant L126M 376C>A BRCA-US 12 493214 493214 single base substitution G T missense_variant L98M 292C>A BTCA-JP 12 394724 394724 single base substitution G A downstream_gene_variant BTCA-JP 12 394724 394724 single base substitution G A exon_variant BTCA-JP 12 394724 394724 single base substitution G A synonymous_variant N1657N 4971C>T BTCA-JP 12 406233 406233 single base substitution G A missense_variant S1403F 4208C>T BTCA-JP 12 406233 406233 single base substitution G A upstream_gene_variant BTCA-JP 12 416705 416705 single base substitution C T downstream_gene_variant BTCA-JP 12 416705 416705 single base substitution C T exon_variant BTCA-JP 12 416705 416705 single base substitution C T missense_variant R1282H 3845G>A BTCA-JP 12 416769 416769 single base substitution G A downstream_gene_variant BTCA-JP 12 416769 416769 single base substitution G A exon_variant BTCA-JP 12 416769 416769 single base substitution G A missense_variant R1261W 3781C>T BTCA-JP 12 430051 430051 deletion of <=200bp A - downstream_gene_variant BTCA-JP 12 430051 430051 deletion of <=200bp A - intron_variant BTCA-JP 12 432392 432392 single base substitution A G downstream_gene_variant BTCA-JP 12 432392 432392 single base substitution A G intron_variant BTCA-JP 12 432392 432392 single base substitution A G upstream_gene_variant BTCA-JP 12 496409 496409 single base substitution C A intron_variant BTCA-JP 12 496409 496409 single base substitution C A splice_region_variant CESC-US 12 385707 385707 single base substitution G A downstream_gene_variant CESC-US 12 402293 402293 single base substitution C G missense_variant D1500H 4498G>C CESC-US 12 402293 402293 single base substitution C G upstream_gene_variant CESC-US 12 416238 416238 single base substitution G A downstream_gene_variant CESC-US 12 416238 416238 single base substitution G A exon_variant CESC-US 12 416238 416238 single base substitution G A synonymous_variant F1316F 3948C>T CESC-US 12 416705 416705 single base substitution C T downstream_gene_variant CESC-US 12 416705 416705 single base substitution C T exon_variant CESC-US 12 416705 416705 single base substitution C T missense_variant R1282H 3845G>A CESC-US 12 419064 419064 single base substitution C T exon_variant CESC-US 12 419064 419064 single base substitution C T missense_variant E1095K 3283G>A CESC-US 12 419064 419064 single base substitution C T missense_variant E714K 2140G>A CESC-US 12 419064 419064 single base substitution C T upstream_gene_variant CESC-US 12 419125 419125 single base substitution C T exon_variant CESC-US 12 419125 419125 single base substitution C T synonymous_variant L1074L 3222G>A CESC-US 12 419125 419125 single base substitution C T synonymous_variant L693L 2079G>A CESC-US 12 419125 419125 single base substitution C T upstream_gene_variant CESC-US 12 431665 431665 single base substitution G A downstream_gene_variant CESC-US 12 431665 431665 single base substitution G A exon_variant CESC-US 12 431665 431665 single base substitution G A stop_gained R401* 1201C>T CESC-US 12 431665 431665 single base substitution G A stop_gained R782* 2344C>T CESC-US 12 463280 463280 single base substitution G T intron_variant CESC-US 12 463280 463280 single base substitution G T missense_variant P331T 991C>A CESC-US 12 463316 463316 single base substitution G C intron_variant CESC-US 12 463316 463316 single base substitution G C missense_variant H319D 955C>G CESC-US 12 464397 464397 single base substitution C T intron_variant CESC-US 12 464397 464397 single base substitution C T missense_variant R266Q 797G>A CESC-US 12 465702 465702 single base substitution G C intron_variant CESC-US 12 465702 465702 single base substitution G C stop_gained S225* 674C>G CESC-US 12 475192 475192 single base substitution G C downstream_gene_variant CESC-US 12 475192 475192 single base substitution G C intron_variant CESC-US 12 475192 475192 single base substitution G C missense_variant L108V 322C>G CESC-US 12 475192 475192 single base substitution G C missense_variant L149V 445C>G CESC-US 12 498527 498527 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 498527 498527 single base substitution G A upstream_gene_variant CESC-US 12 498568 498568 single base substitution C G 5_prime_UTR_variant CESC-US 12 498568 498568 single base substitution C G upstream_gene_variant CLLE-ES 12 427411 427411 single base substitution C A downstream_gene_variant CLLE-ES 12 427411 427411 single base substitution C A missense_variant D539Y 1615G>T CLLE-ES 12 427411 427411 single base substitution C A missense_variant D920Y 2758G>T CLLE-ES 12 435704 435704 single base substitution G T intron_variant CLLE-ES 12 435704 435704 single base substitution G T upstream_gene_variant CLLE-ES 12 438582 438582 single base substitution C T downstream_gene_variant CLLE-ES 12 438582 438582 single base substitution C T intron_variant CLLE-ES 12 438582 438582 single base substitution C T upstream_gene_variant CLLE-ES 12 459164 459164 single base substitution C T intron_variant CLLE-ES 12 477536 477536 single base substitution A T intron_variant CLLE-ES 12 484550 484550 single base substitution T A intron_variant COAD-US 12 394751 394751 single base substitution A T downstream_gene_variant COAD-US 12 394751 394751 single base substitution A T exon_variant COAD-US 12 394751 394751 single base substitution A T synonymous_variant A1648A 4944T>A COAD-US 12 406271 406271 single base substitution C T missense_variant M1390I 4170G>A COAD-US 12 406271 406271 single base substitution C T upstream_gene_variant COAD-US 12 416204 416204 single base substitution C T downstream_gene_variant COAD-US 12 416204 416204 single base substitution C T exon_variant COAD-US 12 416204 416204 single base substitution C T missense_variant V1328M 3982G>A COAD-US 12 416949 416949 single base substitution A G downstream_gene_variant COAD-US 12 416949 416949 single base substitution A G missense_variant S1201P 3601T>C COAD-US 12 416949 416949 single base substitution A G upstream_gene_variant COAD-US 12 432829 432829 single base substitution C T exon_variant COAD-US 12 432829 432829 single base substitution C T missense_variant R315Q 944G>A COAD-US 12 432829 432829 single base substitution C T missense_variant R696Q 2087G>A COAD-US 12 432829 432829 single base substitution C T upstream_gene_variant COAD-US 12 438026 438026 single base substitution C T downstream_gene_variant COAD-US 12 438026 438026 single base substitution C T exon_variant COAD-US 12 438026 438026 single base substitution C T missense_variant R267Q 800G>A COAD-US 12 438026 438026 single base substitution C T missense_variant R648Q 1943G>A COAD-US 12 438161 438161 single base substitution C T downstream_gene_variant COAD-US 12 438161 438161 single base substitution C T exon_variant COAD-US 12 438161 438161 single base substitution C T missense_variant R222Q 665G>A COAD-US 12 438161 438161 single base substitution C T missense_variant R603Q 1808G>A COAD-US 12 465684 465684 single base substitution C T intron_variant COAD-US 12 465684 465684 single base substitution C T missense_variant S231N 692G>A COAD-US 12 472231 472231 single base substitution T G downstream_gene_variant COAD-US 12 472231 472231 single base substitution T G intron_variant COAD-US 12 472231 472231 single base substitution T G missense_variant E190D 570A>C COCA-CN 12 387460 387460 single base substitution A G downstream_gene_variant COCA-CN 12 395265 395265 single base substitution A G downstream_gene_variant COCA-CN 12 395265 395265 single base substitution A G intron_variant COCA-CN 12 404774 404774 single base substitution G T missense_variant P1474T 4420C>A COCA-CN 12 404774 404774 single base substitution G T upstream_gene_variant COCA-CN 12 406365 406365 single base substitution T C missense_variant D1359G 4076A>G COCA-CN 12 406365 406365 single base substitution T C upstream_gene_variant COCA-CN 12 409109 409109 single base substitution C G intron_variant COCA-CN 12 409437 409437 single base substitution C A intron_variant COCA-CN 12 416187 416187 single base substitution T C downstream_gene_variant COCA-CN 12 416187 416187 single base substitution T C exon_variant COCA-CN 12 416187 416187 single base substitution T C synonymous_variant R1333R 3999A>G COCA-CN 12 416219 416219 single base substitution G A downstream_gene_variant COCA-CN 12 416219 416219 single base substitution G A exon_variant COCA-CN 12 416219 416219 single base substitution G A missense_variant R1323W 3967C>T COCA-CN 12 417134 417134 single base substitution T C downstream_gene_variant COCA-CN 12 417134 417134 single base substitution T C missense_variant E1139G 3416A>G COCA-CN 12 417134 417134 single base substitution T C upstream_gene_variant COCA-CN 12 422118 422118 single base substitution C A intron_variant COCA-CN 12 422118 422118 single base substitution C A upstream_gene_variant COCA-CN 12 438226 438226 single base substitution C T downstream_gene_variant COCA-CN 12 438226 438226 single base substitution C T exon_variant COCA-CN 12 438226 438226 single base substitution C T intron_variant COCA-CN 12 439249 439249 single base substitution G A downstream_gene_variant COCA-CN 12 439249 439249 single base substitution G A intron_variant COCA-CN 12 439249 439249 single base substitution G A upstream_gene_variant COCA-CN 12 441187 441187 single base substitution C A downstream_gene_variant COCA-CN 12 441187 441187 single base substitution C A intron_variant COCA-CN 12 441187 441187 single base substitution C A upstream_gene_variant COCA-CN 12 454259 454259 single base substitution C A intron_variant COCA-CN 12 459451 459451 single base substitution A C intron_variant COCA-CN 12 461172 461172 single base substitution A G intron_variant COCA-CN 12 464269 464269 single base substitution C T intron_variant COCA-CN 12 464273 464273 single base substitution A C intron_variant COCA-CN 12 475014 475014 single base substitution G A downstream_gene_variant COCA-CN 12 475014 475014 single base substitution G A intron_variant COCA-CN 12 493226 493226 single base substitution T G intron_variant COCA-CN 12 493226 493226 single base substitution T G missense_variant K113Q 337A>C COCA-CN 12 493226 493226 single base substitution T G missense_variant K122Q 364A>C COCA-CN 12 493226 493226 single base substitution T G missense_variant K94Q 280A>C COCA-CN 12 493342 493342 single base substitution G T intron_variant COCA-CN 12 496439 496439 single base substitution A T intron_variant COCA-CN 12 496439 496439 single base substitution A T missense_variant F56Y 167T>A COCA-CN 12 498088 498088 single base substitution G A intron_variant COCA-CN 12 498088 498088 single base substitution G A upstream_gene_variant COCA-CN 12 498275 498275 single base substitution G A 5_prime_UTR_variant COCA-CN 12 498275 498275 single base substitution G A upstream_gene_variant COCA-CN 12 498738 498738 single base substitution A G upstream_gene_variant COCA-CN 12 498739 498739 single base substitution A G upstream_gene_variant EOPC-DE 12 425781 425781 single base substitution G A intron_variant EOPC-DE 12 451142 451142 single base substitution T C intron_variant EOPC-DE 12 499247 499247 single base substitution T A upstream_gene_variant EOPC-DE 12 500922 500922 single base substitution A G upstream_gene_variant ESAD-UK 12 384840 384840 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 390119 390119 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 390119 390119 single base substitution C T downstream_gene_variant ESAD-UK 12 393500 393500 single base substitution T A 3_prime_UTR_variant ESAD-UK 12 393500 393500 single base substitution T A downstream_gene_variant ESAD-UK 12 395577 395577 single base substitution A C intron_variant ESAD-UK 12 398786 398786 single base substitution C T intron_variant ESAD-UK 12 401999 401999 single base substitution A C exon_variant ESAD-UK 12 401999 401999 single base substitution A C missense_variant S1598A 4792T>G ESAD-UK 12 402607 402607 single base substitution G A intron_variant ESAD-UK 12 402607 402607 single base substitution G A upstream_gene_variant ESAD-UK 12 403350 403350 deletion of <=200bp A - intron_variant ESAD-UK 12 403350 403350 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 403962 403962 single base substitution T A intron_variant ESAD-UK 12 403962 403962 single base substitution T A upstream_gene_variant ESAD-UK 12 404840 404840 single base substitution C T missense_variant G1452R 4354G>A ESAD-UK 12 404840 404840 single base substitution C T upstream_gene_variant ESAD-UK 12 406308 406308 single base substitution T G missense_variant E1378A 4133A>C ESAD-UK 12 406308 406308 single base substitution T G upstream_gene_variant ESAD-UK 12 406380 406380 single base substitution A C intron_variant ESAD-UK 12 406380 406380 single base substitution A C upstream_gene_variant ESAD-UK 12 407985 407985 single base substitution T C intron_variant ESAD-UK 12 409099 409099 insertion of <=200bp - AAA intron_variant ESAD-UK 12 409514 409514 single base substitution G A intron_variant ESAD-UK 12 410691 410691 single base substitution T C intron_variant ESAD-UK 12 411057 411057 single base substitution G A intron_variant ESAD-UK 12 412500 412500 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 412500 412500 deletion of <=200bp A - intron_variant ESAD-UK 12 412838 412838 single base substitution A T downstream_gene_variant ESAD-UK 12 412838 412838 single base substitution A T intron_variant ESAD-UK 12 416835 416835 single base substitution G A downstream_gene_variant ESAD-UK 12 416835 416835 single base substitution G A exon_variant ESAD-UK 12 416835 416835 single base substitution G A missense_variant R1239W 3715C>T ESAD-UK 12 417401 417401 single base substitution T C downstream_gene_variant ESAD-UK 12 417401 417401 single base substitution T C intron_variant ESAD-UK 12 417401 417401 single base substitution T C upstream_gene_variant ESAD-UK 12 418521 418521 single base substitution G T downstream_gene_variant ESAD-UK 12 418521 418521 single base substitution G T intron_variant ESAD-UK 12 418521 418521 single base substitution G T upstream_gene_variant ESAD-UK 12 422253 422253 single base substitution C T missense_variant R1002Q 3005G>A ESAD-UK 12 422253 422253 single base substitution C T missense_variant R621Q 1862G>A ESAD-UK 12 422253 422253 single base substitution C T upstream_gene_variant ESAD-UK 12 423908 423908 single base substitution G T intron_variant ESAD-UK 12 423908 423908 single base substitution G T upstream_gene_variant ESAD-UK 12 425451 425451 insertion of <=200bp - TC intron_variant ESAD-UK 12 427090 427090 single base substitution C T downstream_gene_variant ESAD-UK 12 427090 427090 single base substitution C T intron_variant ESAD-UK 12 427386 427386 single base substitution G C downstream_gene_variant ESAD-UK 12 427386 427386 single base substitution G C missense_variant S547C 1640C>G ESAD-UK 12 427386 427386 single base substitution G C missense_variant S928C 2783C>G ESAD-UK 12 430642 430642 single base substitution A T downstream_gene_variant ESAD-UK 12 430642 430642 single base substitution A T intron_variant ESAD-UK 12 431167 431167 single base substitution G A downstream_gene_variant ESAD-UK 12 431167 431167 single base substitution G A intron_variant ESAD-UK 12 431998 431998 single base substitution G C downstream_gene_variant ESAD-UK 12 431998 431998 single base substitution G C intron_variant ESAD-UK 12 436630 436630 single base substitution C T intron_variant ESAD-UK 12 436630 436630 single base substitution C T upstream_gene_variant ESAD-UK 12 438159 438159 single base substitution G A downstream_gene_variant ESAD-UK 12 438159 438159 single base substitution G A exon_variant ESAD-UK 12 438159 438159 single base substitution G A missense_variant R223C 667C>T ESAD-UK 12 438159 438159 single base substitution G A missense_variant R604C 1810C>T ESAD-UK 12 439035 439035 single base substitution G C downstream_gene_variant ESAD-UK 12 439035 439035 single base substitution G C intron_variant ESAD-UK 12 439035 439035 single base substitution G C upstream_gene_variant ESAD-UK 12 440317 440317 single base substitution T A downstream_gene_variant ESAD-UK 12 440317 440317 single base substitution T A intron_variant ESAD-UK 12 440317 440317 single base substitution T A upstream_gene_variant ESAD-UK 12 443525 443525 single base substitution G A missense_variant H458Y 1372C>T ESAD-UK 12 443525 443525 single base substitution G A missense_variant H77Y 229C>T ESAD-UK 12 443525 443525 single base substitution G A upstream_gene_variant ESAD-UK 12 444525 444525 single base substitution T G intron_variant ESAD-UK 12 444525 444525 single base substitution T G upstream_gene_variant ESAD-UK 12 445773 445773 single base substitution G A intron_variant ESAD-UK 12 445773 445773 single base substitution G A upstream_gene_variant ESAD-UK 12 454771 454771 single base substitution A C intron_variant ESAD-UK 12 454790 454790 single base substitution G A intron_variant ESAD-UK 12 457270 457270 single base substitution G C intron_variant ESAD-UK 12 458655 458655 single base substitution T A intron_variant ESAD-UK 12 458656 458656 single base substitution C A intron_variant ESAD-UK 12 460860 460860 single base substitution C T intron_variant ESAD-UK 12 465409 465409 single base substitution A G intron_variant ESAD-UK 12 469130 469130 single base substitution A C intron_variant ESAD-UK 12 469700 469700 single base substitution T A intron_variant ESAD-UK 12 473704 473704 single base substitution C A downstream_gene_variant ESAD-UK 12 473704 473704 single base substitution C A intron_variant ESAD-UK 12 479779 479779 single base substitution T C intron_variant ESAD-UK 12 479780 479780 single base substitution T C intron_variant ESAD-UK 12 482029 482029 single base substitution T A intron_variant ESAD-UK 12 483319 483319 single base substitution G A intron_variant ESAD-UK 12 484610 484610 single base substitution C T intron_variant ESAD-UK 12 485529 485529 single base substitution G A intron_variant ESAD-UK 12 493063 493063 single base substitution C T downstream_gene_variant ESAD-UK 12 493063 493063 single base substitution C T intron_variant ESAD-UK 12 494398 494398 single base substitution G A intron_variant ESAD-UK 12 495511 495511 single base substitution G A intron_variant ESAD-UK 12 495728 495728 single base substitution T C intron_variant ESAD-UK 12 497873 497873 single base substitution C A intron_variant ESAD-UK 12 497873 497873 single base substitution C A upstream_gene_variant ESAD-UK 12 502886 502886 single base substitution C T upstream_gene_variant ESAD-UK 12 503091 503091 single base substitution G T upstream_gene_variant GBM-US 12 402172 402172 single base substitution A C stop_gained L1540* 4619T>G GBM-US 12 402172 402172 single base substitution A C upstream_gene_variant GBM-US 12 416884 416884 single base substitution C T downstream_gene_variant GBM-US 12 416884 416884 single base substitution C T exon_variant GBM-US 12 416884 416884 single base substitution C T synonymous_variant R1222R 3666G>A GBM-US 12 416952 416952 insertion of <=200bp - T downstream_gene_variant GBM-US 12 416952 416952 insertion of <=200bp - T frameshift_variant G1200E? GBM-US 12 416952 416952 insertion of <=200bp - T upstream_gene_variant GBM-US 12 416979 416979 single base substitution G A downstream_gene_variant GBM-US 12 416979 416979 single base substitution G A missense_variant L1191F 3571C>T GBM-US 12 416979 416979 single base substitution G A upstream_gene_variant KIRC-US 12 416170 416170 single base substitution T A downstream_gene_variant KIRC-US 12 416170 416170 single base substitution T A exon_variant KIRC-US 12 416170 416170 single base substitution T A missense_variant D1339V 4016A>T KIRC-US 12 419082 419082 single base substitution T A exon_variant KIRC-US 12 419082 419082 single base substitution T A missense_variant R1089W 3265A>T KIRC-US 12 419082 419082 single base substitution T A missense_variant R708W 2122A>T KIRC-US 12 419082 419082 single base substitution T A upstream_gene_variant KIRC-US 12 442697 442697 single base substitution C T exon_variant KIRC-US 12 442697 442697 single base substitution C T missense_variant V156I 466G>A KIRC-US 12 442697 442697 single base substitution C T missense_variant V537I 1609G>A KIRC-US 12 442697 442697 single base substitution C T upstream_gene_variant KIRC-US 12 442728 442728 single base substitution A G exon_variant KIRC-US 12 442728 442728 single base substitution A G synonymous_variant F145F 435T>C KIRC-US 12 442728 442728 single base substitution A G synonymous_variant F526F 1578T>C KIRC-US 12 442728 442728 single base substitution A G upstream_gene_variant KIRP-US 12 401948 401948 single base substitution A G exon_variant KIRP-US 12 401948 401948 single base substitution A G missense_variant C1615R 4843T>C KIRP-US 12 404935 404935 single base substitution G C missense_variant P1420R 4259C>G KIRP-US 12 404935 404935 single base substitution G C upstream_gene_variant KIRP-US 12 472130 472130 single base substitution T C downstream_gene_variant KIRP-US 12 472130 472130 single base substitution T C intron_variant KIRP-US 12 472130 472130 single base substitution T C missense_variant Q224R 671A>G LAML-KR 12 391277 391277 single base substitution A G 3_prime_UTR_variant LAML-KR 12 391277 391277 single base substitution A G downstream_gene_variant LAML-KR 12 419225 419225 single base substitution G C intron_variant LAML-KR 12 419225 419225 single base substitution G C upstream_gene_variant LAML-KR 12 432360 432360 single base substitution T G downstream_gene_variant LAML-KR 12 432360 432360 single base substitution T G synonymous_variant P340P 1020A>C LAML-KR 12 432360 432360 single base substitution T G synonymous_variant P721P 2163A>C LAML-KR 12 432360 432360 single base substitution T G upstream_gene_variant LAML-KR 12 432666 432666 single base substitution G C downstream_gene_variant LAML-KR 12 432666 432666 single base substitution G C intron_variant LAML-KR 12 432666 432666 single base substitution G C upstream_gene_variant LAML-KR 12 435936 435936 single base substitution T A intron_variant LAML-KR 12 435936 435936 single base substitution T A upstream_gene_variant LAML-KR 12 442503 442503 single base substitution T A exon_variant LAML-KR 12 442503 442503 single base substitution T A intron_variant LAML-KR 12 442503 442503 single base substitution T A upstream_gene_variant LAML-KR 12 468921 468921 single base substitution G A intron_variant LAML-KR 12 497910 497910 single base substitution T G intron_variant LAML-KR 12 497910 497910 single base substitution T G upstream_gene_variant LGG-US 12 416952 416952 insertion of <=200bp - T downstream_gene_variant LGG-US 12 416952 416952 insertion of <=200bp - T frameshift_variant G1200E? LGG-US 12 416952 416952 insertion of <=200bp - T upstream_gene_variant LICA-CN 12 498228 498228 single base substitution C A synonymous_variant A10A 30G>T LICA-CN 12 498228 498228 single base substitution C A upstream_gene_variant LICA-FR 12 385899 385900 deletion of <=200bp AA - downstream_gene_variant LICA-FR 12 413613 413613 deletion of <=200bp T - downstream_gene_variant LICA-FR 12 413613 413613 deletion of <=200bp T - intron_variant LICA-FR 12 421881 421881 single base substitution C T intron_variant LICA-FR 12 421881 421881 single base substitution C T upstream_gene_variant LICA-FR 12 487093 487093 single base substitution A C intron_variant LICA-FR 12 497201 497201 single base substitution T A intron_variant LICA-FR 12 501220 501220 single base substitution C A upstream_gene_variant LIHC-US 12 443421 443421 single base substitution G C exon_variant LIHC-US 12 443421 443421 single base substitution G C missense_variant I111M 333C>G LIHC-US 12 443421 443421 single base substitution G C missense_variant I492M 1476C>G LINC-JP 12 390289 390289 single base substitution T C 3_prime_UTR_variant LINC-JP 12 390289 390289 single base substitution T C downstream_gene_variant LINC-JP 12 395549 395549 single base substitution T C intron_variant LINC-JP 12 414685 414685 single base substitution G A downstream_gene_variant LINC-JP 12 414685 414685 single base substitution G A intron_variant LINC-JP 12 416047 416047 deletion of <=200bp T - downstream_gene_variant LINC-JP 12 416047 416047 deletion of <=200bp T - intron_variant LINC-JP 12 416047 416047 insertion of <=200bp - T downstream_gene_variant LINC-JP 12 416047 416047 insertion of <=200bp - T intron_variant LINC-JP 12 417296 417296 single base substitution G A downstream_gene_variant LINC-JP 12 417296 417296 single base substitution G A intron_variant LINC-JP 12 417296 417296 single base substitution G A upstream_gene_variant LINC-JP 12 439368 439368 single base substitution A G downstream_gene_variant LINC-JP 12 439368 439368 single base substitution A G intron_variant LINC-JP 12 439368 439368 single base substitution A G upstream_gene_variant LINC-JP 12 459719 459719 deletion of <=200bp T - intron_variant LINC-JP 12 460324 460324 single base substitution T C intron_variant LINC-JP 12 461563 461563 deletion of <=200bp A - intron_variant LINC-JP 12 479069 479069 single base substitution G A intron_variant LINC-JP 12 492159 492159 deletion of <=200bp T - downstream_gene_variant LINC-JP 12 492159 492159 deletion of <=200bp T - intron_variant LINC-JP 12 496393 496393 deletion of <=200bp A - intron_variant LIRI-JP 12 388208 388208 single base substitution G A downstream_gene_variant LIRI-JP 12 392638 392638 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 392638 392638 single base substitution T C downstream_gene_variant LIRI-JP 12 393960 393960 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 393960 393960 single base substitution G A downstream_gene_variant LIRI-JP 12 395096 395096 single base substitution C T downstream_gene_variant LIRI-JP 12 395096 395096 single base substitution C T intron_variant LIRI-JP 12 397187 397187 deletion of <=200bp T - intron_variant LIRI-JP 12 397219 397219 single base substitution T C intron_variant LIRI-JP 12 404814 404814 single base substitution G T missense_variant D1460E 4380C>A LIRI-JP 12 404814 404814 single base substitution G T upstream_gene_variant LIRI-JP 12 414263 414263 single base substitution T G downstream_gene_variant LIRI-JP 12 414263 414263 single base substitution T G intron_variant LIRI-JP 12 421490 421490 single base substitution C A intron_variant LIRI-JP 12 421490 421490 single base substitution C A upstream_gene_variant LIRI-JP 12 425648 425648 single base substitution G A intron_variant LIRI-JP 12 427393 427393 single base substitution T C downstream_gene_variant LIRI-JP 12 427393 427393 single base substitution T C missense_variant I545V 1633A>G LIRI-JP 12 427393 427393 single base substitution T C missense_variant I926V 2776A>G LIRI-JP 12 429696 429696 single base substitution A T downstream_gene_variant LIRI-JP 12 429696 429696 single base substitution A T intron_variant LIRI-JP 12 435526 435526 single base substitution G A intron_variant LIRI-JP 12 435526 435526 single base substitution G A upstream_gene_variant LIRI-JP 12 438272 438272 single base substitution C T downstream_gene_variant LIRI-JP 12 438272 438272 single base substitution C T exon_variant LIRI-JP 12 438272 438272 single base substitution C T intron_variant LIRI-JP 12 440146 440146 single base substitution T C downstream_gene_variant LIRI-JP 12 440146 440146 single base substitution T C intron_variant LIRI-JP 12 440146 440146 single base substitution T C upstream_gene_variant LIRI-JP 12 440230 440230 single base substitution A G downstream_gene_variant LIRI-JP 12 440230 440230 single base substitution A G intron_variant LIRI-JP 12 440230 440230 single base substitution A G upstream_gene_variant LIRI-JP 12 440412 440412 deletion of <=200bp A - downstream_gene_variant LIRI-JP 12 440412 440412 deletion of <=200bp A - intron_variant LIRI-JP 12 440412 440412 deletion of <=200bp A - upstream_gene_variant LIRI-JP 12 443988 443988 single base substitution C T intron_variant LIRI-JP 12 443988 443988 single base substitution C T upstream_gene_variant LIRI-JP 12 444334 444334 single base substitution G A intron_variant LIRI-JP 12 444334 444334 single base substitution G A upstream_gene_variant LIRI-JP 12 446057 446057 single base substitution T C intron_variant LIRI-JP 12 446057 446057 single base substitution T C upstream_gene_variant LIRI-JP 12 446108 446108 single base substitution G C intron_variant LIRI-JP 12 446108 446108 single base substitution G C upstream_gene_variant LIRI-JP 12 448804 448804 single base substitution A G intron_variant LIRI-JP 12 451424 451424 single base substitution C G intron_variant LIRI-JP 12 465848 465848 single base substitution T C intron_variant LIRI-JP 12 467733 467733 single base substitution A G intron_variant LIRI-JP 12 486173 486173 single base substitution T G intron_variant LIRI-JP 12 493339 493339 single base substitution G A intron_variant LIRI-JP 12 497573 497573 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 497573 497573 single base substitution T A intron_variant LIRI-JP 12 501217 501217 insertion of <=200bp - G upstream_gene_variant LUSC-KR 12 387602 387602 single base substitution T C downstream_gene_variant LUSC-KR 12 390358 390358 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 390358 390358 single base substitution G A downstream_gene_variant LUSC-KR 12 398684 398684 single base substitution C A intron_variant LUSC-KR 12 404467 404467 single base substitution G C intron_variant LUSC-KR 12 404467 404467 single base substitution G C upstream_gene_variant LUSC-KR 12 405855 405855 single base substitution C A intron_variant LUSC-KR 12 405855 405855 single base substitution C A upstream_gene_variant LUSC-KR 12 408032 408032 single base substitution G A intron_variant LUSC-KR 12 415227 415227 single base substitution C A downstream_gene_variant LUSC-KR 12 415227 415227 single base substitution C A intron_variant LUSC-KR 12 415577 415577 single base substitution G A downstream_gene_variant LUSC-KR 12 415577 415577 single base substitution G A intron_variant LUSC-KR 12 415819 415819 single base substitution G C downstream_gene_variant LUSC-KR 12 415819 415819 single base substitution G C intron_variant LUSC-KR 12 417053 417053 single base substitution C T downstream_gene_variant LUSC-KR 12 417053 417053 single base substitution C T missense_variant C1166Y 3497G>A LUSC-KR 12 417053 417053 single base substitution C T upstream_gene_variant LUSC-KR 12 417803 417803 single base substitution A G downstream_gene_variant LUSC-KR 12 417803 417803 single base substitution A G intron_variant LUSC-KR 12 417803 417803 single base substitution A G upstream_gene_variant LUSC-KR 12 427187 427187 single base substitution A G downstream_gene_variant LUSC-KR 12 427187 427187 single base substitution A G intron_variant LUSC-KR 12 432666 432666 single base substitution G C downstream_gene_variant LUSC-KR 12 432666 432666 single base substitution G C intron_variant LUSC-KR 12 432666 432666 single base substitution G C upstream_gene_variant LUSC-KR 12 452575 452575 single base substitution G A intron_variant LUSC-KR 12 457255 457255 single base substitution A C intron_variant LUSC-KR 12 459792 459792 single base substitution C T intron_variant LUSC-KR 12 459792 459792 single base substitution C T missense_variant E435K 1303G>A LUSC-KR 12 461530 461530 single base substitution A G intron_variant LUSC-KR 12 461776 461776 single base substitution T A intron_variant LUSC-KR 12 463080 463080 single base substitution C T intron_variant LUSC-KR 12 463421 463421 single base substitution G A intron_variant LUSC-KR 12 464398 464398 single base substitution G A intron_variant LUSC-KR 12 464398 464398 single base substitution G A stop_gained R266* 796C>T LUSC-KR 12 465990 465990 single base substitution C T intron_variant LUSC-KR 12 467929 467929 single base substitution G T intron_variant LUSC-KR 12 473414 473414 single base substitution G A downstream_gene_variant LUSC-KR 12 473414 473414 single base substitution G A intron_variant LUSC-KR 12 483164 483164 single base substitution A T intron_variant LUSC-KR 12 489901 489901 single base substitution A G downstream_gene_variant LUSC-KR 12 489901 489901 single base substitution A G intron_variant LUSC-KR 12 495263 495263 single base substitution T C intron_variant LUSC-KR 12 498739 498739 single base substitution A G upstream_gene_variant LUSC-KR 12 498748 498748 single base substitution G A upstream_gene_variant LUSC-KR 12 501518 501518 single base substitution C A upstream_gene_variant LUSC-US 12 401958 401958 single base substitution T G exon_variant LUSC-US 12 401958 401958 single base substitution T G synonymous_variant A1611A 4833A>C LUSC-US 12 406233 406233 single base substitution G A missense_variant S1403F 4208C>T LUSC-US 12 406233 406233 single base substitution G A upstream_gene_variant LUSC-US 12 416829 416829 single base substitution G A downstream_gene_variant LUSC-US 12 416829 416829 single base substitution G A exon_variant LUSC-US 12 416829 416829 single base substitution G A missense_variant P1241S 3721C>T LUSC-US 12 427394 427394 single base substitution C G downstream_gene_variant LUSC-US 12 427394 427394 single base substitution C G synonymous_variant L544L 1632G>C LUSC-US 12 427394 427394 single base substitution C G synonymous_variant L925L 2775G>C LUSC-US 12 441100 441100 single base substitution T C downstream_gene_variant LUSC-US 12 441100 441100 single base substitution T C missense_variant Y172C 515A>G LUSC-US 12 441100 441100 single base substitution T C missense_variant Y553C 1658A>G LUSC-US 12 441100 441100 single base substitution T C upstream_gene_variant LUSC-US 12 461444 461444 single base substitution C A intron_variant LUSC-US 12 461444 461444 single base substitution C A missense_variant R359L 1076G>T LUSC-US 12 464404 464404 single base substitution G A intron_variant LUSC-US 12 464404 464404 single base substitution G A stop_gained R264* 790C>T LUSC-US 12 475139 475139 single base substitution G C downstream_gene_variant LUSC-US 12 475139 475139 single base substitution G C intron_variant LUSC-US 12 475139 475139 single base substitution G C synonymous_variant L125L 375C>G LUSC-US 12 475139 475139 single base substitution G C synonymous_variant L166L 498C>G LUSC-US 12 475168 475168 single base substitution G C downstream_gene_variant LUSC-US 12 475168 475168 single base substitution G C intron_variant LUSC-US 12 475168 475168 single base substitution G C missense_variant L116V 346C>G LUSC-US 12 475168 475168 single base substitution G C missense_variant L157V 469C>G LUSC-US 12 475235 475235 single base substitution G T intron_variant LUSC-US 12 475235 475235 single base substitution G T synonymous_variant T115T 345C>A LUSC-US 12 475235 475235 single base substitution G T synonymous_variant T134T 402C>A LUSC-US 12 475235 475235 single base substitution G T synonymous_variant T93T 279C>A LUSC-US 12 495116 495116 single base substitution C G intron_variant LUSC-US 12 495116 495116 single base substitution C G missense_variant E45Q 133G>C LUSC-US 12 495116 495116 single base substitution C G missense_variant E64Q 190G>C LUSC-US 12 495116 495116 single base substitution C G missense_variant E73Q 217G>C MALY-DE 12 389543 389543 single base substitution T C 3_prime_UTR_variant MALY-DE 12 390370 390370 single base substitution G A 3_prime_UTR_variant MALY-DE 12 390370 390370 single base substitution G A downstream_gene_variant MALY-DE 12 409534 409534 single base substitution G A intron_variant MALY-DE 12 423277 423277 single base substitution C A intron_variant MALY-DE 12 423277 423277 single base substitution C A upstream_gene_variant MALY-DE 12 424886 424886 single base substitution G A intron_variant MALY-DE 12 424886 424886 single base substitution G A upstream_gene_variant MALY-DE 12 425451 425452 deletion of <=200bp TC - intron_variant MALY-DE 12 431355 431355 single base substitution A G downstream_gene_variant MALY-DE 12 431355 431355 single base substitution A G intron_variant MALY-DE 12 432375 432385 deletion of <=200bp ACAAAAAAAAA - downstream_gene_variant MALY-DE 12 432375 432385 deletion of <=200bp ACAAAAAAAAA - splice_region_variant MALY-DE 12 432375 432385 deletion of <=200bp ACAAAAAAAAA - upstream_gene_variant MALY-DE 12 436456 436456 single base substitution A T intron_variant MALY-DE 12 436456 436456 single base substitution A T upstream_gene_variant MALY-DE 12 436488 436488 single base substitution T G intron_variant MALY-DE 12 436488 436488 single base substitution T G upstream_gene_variant MALY-DE 12 450726 450726 single base substitution A C intron_variant MALY-DE 12 456780 456780 single base substitution C T intron_variant MALY-DE 12 464806 464806 single base substitution T C intron_variant MALY-DE 12 465634 465634 single base substitution C G intron_variant MALY-DE 12 465634 465634 single base substitution C G missense_variant V248L 742G>C MALY-DE 12 471500 471500 single base substitution A G downstream_gene_variant MALY-DE 12 471500 471500 single base substitution A G intron_variant MALY-DE 12 475563 475563 single base substitution A T intron_variant MALY-DE 12 484623 484623 single base substitution A T intron_variant MALY-DE 12 494433 494433 single base substitution A G intron_variant MALY-DE 12 499903 499904 deletion of <=200bp AC - upstream_gene_variant MALY-DE 12 500460 500460 single base substitution A T upstream_gene_variant MELA-AU 12 384702 384702 single base substitution G A downstream_gene_variant MELA-AU 12 385279 385279 single base substitution A T downstream_gene_variant MELA-AU 12 385325 385325 single base substitution A T downstream_gene_variant MELA-AU 12 385556 385556 single base substitution G A downstream_gene_variant MELA-AU 12 385694 385694 single base substitution G A downstream_gene_variant MELA-AU 12 385897 385897 single base substitution G A downstream_gene_variant MELA-AU 12 386683 386683 single base substitution G A downstream_gene_variant MELA-AU 12 386808 386808 single base substitution G A downstream_gene_variant MELA-AU 12 386843 386843 single base substitution G A downstream_gene_variant MELA-AU 12 387106 387106 single base substitution A C downstream_gene_variant MELA-AU 12 387475 387475 single base substitution G A downstream_gene_variant MELA-AU 12 387598 387598 single base substitution G A downstream_gene_variant MELA-AU 12 387958 387958 single base substitution G A downstream_gene_variant MELA-AU 12 388050 388050 single base substitution G A downstream_gene_variant MELA-AU 12 388554 388554 single base substitution C A downstream_gene_variant MELA-AU 12 388623 388623 single base substitution C T downstream_gene_variant MELA-AU 12 388905 388905 single base substitution A G downstream_gene_variant MELA-AU 12 389068 389068 single base substitution G A downstream_gene_variant MELA-AU 12 389432 389432 single base substitution G A 3_prime_UTR_variant MELA-AU 12 389538 389539 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 390774 390774 single base substitution G A 3_prime_UTR_variant MELA-AU 12 390774 390774 single base substitution G A downstream_gene_variant MELA-AU 12 391032 391032 single base substitution G A 3_prime_UTR_variant MELA-AU 12 391032 391032 single base substitution G A downstream_gene_variant MELA-AU 12 391224 391224 single base substitution A G 3_prime_UTR_variant MELA-AU 12 391224 391224 single base substitution A G downstream_gene_variant MELA-AU 12 391277 391277 single base substitution A G 3_prime_UTR_variant MELA-AU 12 391277 391277 single base substitution A G downstream_gene_variant MELA-AU 12 391686 391686 single base substitution G A 3_prime_UTR_variant MELA-AU 12 391686 391686 single base substitution G A downstream_gene_variant MELA-AU 12 391755 391755 single base substitution C T 3_prime_UTR_variant MELA-AU 12 391755 391755 single base substitution C T downstream_gene_variant MELA-AU 12 392190 392190 single base substitution G A 3_prime_UTR_variant MELA-AU 12 392190 392190 single base substitution G A downstream_gene_variant MELA-AU 12 392305 392305 single base substitution G A 3_prime_UTR_variant MELA-AU 12 392305 392305 single base substitution G A downstream_gene_variant MELA-AU 12 392525 392525 single base substitution C T 3_prime_UTR_variant MELA-AU 12 392525 392525 single base substitution C T downstream_gene_variant MELA-AU 12 392810 392810 single base substitution T A 3_prime_UTR_variant MELA-AU 12 392810 392810 single base substitution T A downstream_gene_variant MELA-AU 12 393508 393508 single base substitution G T 3_prime_UTR_variant MELA-AU 12 393508 393508 single base substitution G T downstream_gene_variant MELA-AU 12 394464 394464 single base substitution G A 3_prime_UTR_variant MELA-AU 12 394464 394464 single base substitution G A downstream_gene_variant MELA-AU 12 395555 395555 single base substitution G A intron_variant MELA-AU 12 395556 395556 single base substitution G A intron_variant MELA-AU 12 395822 395822 single base substitution C A intron_variant MELA-AU 12 395832 395832 single base substitution G A intron_variant MELA-AU 12 397307 397307 single base substitution T C intron_variant MELA-AU 12 398211 398211 single base substitution G A intron_variant MELA-AU 12 398493 398493 single base substitution A G intron_variant MELA-AU 12 398590 398590 single base substitution G A intron_variant MELA-AU 12 399043 399044 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 399077 399077 single base substitution T C intron_variant MELA-AU 12 399462 399462 single base substitution C A intron_variant MELA-AU 12 399997 399997 single base substitution G A intron_variant MELA-AU 12 399998 399998 single base substitution G A intron_variant MELA-AU 12 400157 400157 single base substitution A G intron_variant MELA-AU 12 400226 400226 single base substitution G A intron_variant MELA-AU 12 401020 401020 single base substitution G A intron_variant MELA-AU 12 401045 401045 single base substitution G A intron_variant MELA-AU 12 401724 401724 single base substitution G A intron_variant MELA-AU 12 402474 402474 single base substitution G A intron_variant MELA-AU 12 402474 402474 single base substitution G A upstream_gene_variant MELA-AU 12 404274 404274 single base substitution G A intron_variant MELA-AU 12 404274 404274 single base substitution G A upstream_gene_variant MELA-AU 12 404424 404424 single base substitution G A intron_variant MELA-AU 12 404424 404424 single base substitution G A upstream_gene_variant MELA-AU 12 404428 404428 single base substitution G A intron_variant MELA-AU 12 404428 404428 single base substitution G A upstream_gene_variant MELA-AU 12 404430 404431 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 404430 404431 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 404435 404435 single base substitution G A intron_variant MELA-AU 12 404435 404435 single base substitution G A upstream_gene_variant MELA-AU 12 404455 404455 single base substitution A G intron_variant MELA-AU 12 404455 404455 single base substitution A G upstream_gene_variant MELA-AU 12 404472 404472 single base substitution G T intron_variant MELA-AU 12 404472 404472 single base substitution G T upstream_gene_variant MELA-AU 12 405007 405007 single base substitution G A intron_variant MELA-AU 12 405007 405007 single base substitution G A upstream_gene_variant MELA-AU 12 405008 405008 single base substitution G A intron_variant MELA-AU 12 405008 405008 single base substitution G A upstream_gene_variant MELA-AU 12 405201 405201 single base substitution C T intron_variant MELA-AU 12 405201 405201 single base substitution C T upstream_gene_variant MELA-AU 12 405261 405261 single base substitution G A intron_variant MELA-AU 12 405261 405261 single base substitution G A upstream_gene_variant MELA-AU 12 405815 405816 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 405815 405816 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 406302 406302 single base substitution G A missense_variant P1380L 4139C>T MELA-AU 12 406302 406302 single base substitution G A upstream_gene_variant MELA-AU 12 406536 406536 single base substitution A T intron_variant MELA-AU 12 406536 406536 single base substitution A T upstream_gene_variant MELA-AU 12 406642 406642 single base substitution A T intron_variant MELA-AU 12 406642 406642 single base substitution A T upstream_gene_variant MELA-AU 12 407262 407262 single base substitution G A intron_variant MELA-AU 12 407991 407991 single base substitution A G intron_variant MELA-AU 12 408166 408166 single base substitution G A intron_variant MELA-AU 12 408486 408486 single base substitution G A intron_variant MELA-AU 12 409059 409059 single base substitution C T intron_variant MELA-AU 12 409248 409248 single base substitution A T intron_variant MELA-AU 12 409365 409365 single base substitution G A intron_variant MELA-AU 12 409570 409570 single base substitution G A intron_variant MELA-AU 12 409745 409745 single base substitution G A intron_variant MELA-AU 12 410149 410149 single base substitution G A intron_variant MELA-AU 12 411203 411203 single base substitution G A downstream_gene_variant MELA-AU 12 411203 411203 single base substitution G A intron_variant MELA-AU 12 411584 411584 single base substitution G A downstream_gene_variant MELA-AU 12 411584 411584 single base substitution G A intron_variant MELA-AU 12 411749 411749 single base substitution G T downstream_gene_variant MELA-AU 12 411749 411749 single base substitution G T intron_variant MELA-AU 12 411990 411990 single base substitution G A downstream_gene_variant MELA-AU 12 411990 411990 single base substitution G A intron_variant MELA-AU 12 411998 411998 single base substitution C A downstream_gene_variant MELA-AU 12 411998 411998 single base substitution C A intron_variant MELA-AU 12 413085 413085 single base substitution G A downstream_gene_variant MELA-AU 12 413085 413085 single base substitution G A intron_variant MELA-AU 12 413207 413207 single base substitution T C downstream_gene_variant MELA-AU 12 413207 413207 single base substitution T C intron_variant MELA-AU 12 413351 413351 single base substitution G A downstream_gene_variant MELA-AU 12 413351 413351 single base substitution G A intron_variant MELA-AU 12 413515 413515 single base substitution G A downstream_gene_variant MELA-AU 12 413515 413515 single base substitution G A intron_variant MELA-AU 12 413844 413844 single base substitution C T downstream_gene_variant MELA-AU 12 413844 413844 single base substitution C T intron_variant MELA-AU 12 414086 414086 single base substitution G A downstream_gene_variant MELA-AU 12 414086 414086 single base substitution G A intron_variant MELA-AU 12 414691 414691 single base substitution G A downstream_gene_variant MELA-AU 12 414691 414691 single base substitution G A intron_variant MELA-AU 12 414900 414900 single base substitution G A downstream_gene_variant MELA-AU 12 414900 414900 single base substitution G A intron_variant MELA-AU 12 415779 415779 single base substitution T A downstream_gene_variant MELA-AU 12 415779 415779 single base substitution T A intron_variant MELA-AU 12 415924 415924 single base substitution A T downstream_gene_variant MELA-AU 12 415924 415924 single base substitution A T intron_variant MELA-AU 12 416948 416948 single base substitution G A downstream_gene_variant MELA-AU 12 416948 416948 single base substitution G A missense_variant S1201F 3602C>T MELA-AU 12 416948 416948 single base substitution G A upstream_gene_variant MELA-AU 12 416998 416998 single base substitution G A downstream_gene_variant MELA-AU 12 416998 416998 single base substitution G A synonymous_variant F1184F 3552C>T MELA-AU 12 416998 416998 single base substitution G A upstream_gene_variant MELA-AU 12 417515 417515 single base substitution A T downstream_gene_variant MELA-AU 12 417515 417515 single base substitution A T intron_variant MELA-AU 12 417515 417515 single base substitution A T upstream_gene_variant MELA-AU 12 418384 418384 single base substitution G A downstream_gene_variant MELA-AU 12 418384 418384 single base substitution G A intron_variant MELA-AU 12 418384 418384 single base substitution G A upstream_gene_variant MELA-AU 12 418515 418515 single base substitution G T downstream_gene_variant MELA-AU 12 418515 418515 single base substitution G T intron_variant MELA-AU 12 418515 418515 single base substitution G T upstream_gene_variant MELA-AU 12 418794 418794 single base substitution A G downstream_gene_variant MELA-AU 12 418794 418794 single base substitution A G intron_variant MELA-AU 12 418794 418794 single base substitution A G upstream_gene_variant MELA-AU 12 419590 419590 single base substitution G T intron_variant MELA-AU 12 419590 419590 single base substitution G T upstream_gene_variant MELA-AU 12 419727 419727 single base substitution G A intron_variant MELA-AU 12 419727 419727 single base substitution G A upstream_gene_variant MELA-AU 12 419988 419988 single base substitution C T intron_variant MELA-AU 12 419988 419988 single base substitution C T upstream_gene_variant MELA-AU 12 420394 420394 single base substitution T C intron_variant MELA-AU 12 420394 420394 single base substitution T C upstream_gene_variant MELA-AU 12 421759 421759 single base substitution G A intron_variant MELA-AU 12 421759 421759 single base substitution G A upstream_gene_variant MELA-AU 12 423038 423038 single base substitution G A intron_variant MELA-AU 12 423038 423038 single base substitution G A upstream_gene_variant MELA-AU 12 423324 423324 single base substitution G A intron_variant MELA-AU 12 423324 423324 single base substitution G A upstream_gene_variant MELA-AU 12 424440 424440 single base substitution T C intron_variant MELA-AU 12 424440 424440 single base substitution T C upstream_gene_variant MELA-AU 12 424780 424780 single base substitution A G intron_variant MELA-AU 12 424780 424780 single base substitution A G upstream_gene_variant MELA-AU 12 424796 424796 single base substitution A C intron_variant MELA-AU 12 424796 424796 single base substitution A C upstream_gene_variant MELA-AU 12 425634 425634 single base substitution G A intron_variant MELA-AU 12 425744 425744 single base substitution G A intron_variant MELA-AU 12 427103 427103 single base substitution G A downstream_gene_variant MELA-AU 12 427103 427103 single base substitution G A intron_variant MELA-AU 12 427597 427597 single base substitution C T downstream_gene_variant MELA-AU 12 427597 427597 single base substitution C T missense_variant E477K 1429G>A MELA-AU 12 427597 427597 single base substitution C T missense_variant E858K 2572G>A MELA-AU 12 427600 427600 single base substitution G A downstream_gene_variant MELA-AU 12 427600 427600 single base substitution G A missense_variant H476Y 1426C>T MELA-AU 12 427600 427600 single base substitution G A missense_variant H857Y 2569C>T MELA-AU 12 428596 428596 single base substitution G A downstream_gene_variant MELA-AU 12 428596 428596 single base substitution G A intron_variant MELA-AU 12 428979 428979 single base substitution G A downstream_gene_variant MELA-AU 12 428979 428979 single base substitution G A intron_variant MELA-AU 12 429017 429017 single base substitution G A downstream_gene_variant MELA-AU 12 429017 429017 single base substitution G A intron_variant MELA-AU 12 430047 430047 single base substitution A T downstream_gene_variant MELA-AU 12 430047 430047 single base substitution A T intron_variant MELA-AU 12 430675 430675 single base substitution C A downstream_gene_variant MELA-AU 12 430675 430675 single base substitution C A intron_variant MELA-AU 12 430879 430879 single base substitution C T downstream_gene_variant MELA-AU 12 430879 430879 single base substitution C T intron_variant MELA-AU 12 431500 431500 single base substitution G A downstream_gene_variant MELA-AU 12 431500 431500 single base substitution G A exon_variant MELA-AU 12 431500 431500 single base substitution G A intron_variant MELA-AU 12 431540 431540 single base substitution G A downstream_gene_variant MELA-AU 12 431540 431540 single base substitution G A exon_variant MELA-AU 12 431540 431540 single base substitution G A intron_variant MELA-AU 12 432148 432148 single base substitution G A downstream_gene_variant MELA-AU 12 432148 432148 single base substitution G A intron_variant MELA-AU 12 432166 432166 single base substitution G A downstream_gene_variant MELA-AU 12 432166 432166 single base substitution G A intron_variant MELA-AU 12 432238 432238 single base substitution G A downstream_gene_variant MELA-AU 12 432238 432238 single base substitution G A intron_variant MELA-AU 12 433385 433385 single base substitution T G intron_variant MELA-AU 12 433385 433385 single base substitution T G upstream_gene_variant MELA-AU 12 433480 433480 single base substitution G A intron_variant MELA-AU 12 433480 433480 single base substitution G A upstream_gene_variant MELA-AU 12 434446 434446 single base substitution G A intron_variant MELA-AU 12 434446 434446 single base substitution G A upstream_gene_variant MELA-AU 12 434890 434890 single base substitution G A intron_variant MELA-AU 12 434890 434890 single base substitution G A upstream_gene_variant MELA-AU 12 435194 435194 single base substitution G A intron_variant MELA-AU 12 435194 435194 single base substitution G A upstream_gene_variant MELA-AU 12 435334 435334 single base substitution G A intron_variant MELA-AU 12 435334 435334 single base substitution G A upstream_gene_variant MELA-AU 12 435779 435779 single base substitution G A intron_variant MELA-AU 12 435779 435779 single base substitution G A upstream_gene_variant MELA-AU 12 435899 435899 single base substitution C T intron_variant MELA-AU 12 435899 435899 single base substitution C T upstream_gene_variant MELA-AU 12 436014 436014 single base substitution G A intron_variant MELA-AU 12 436014 436014 single base substitution G A upstream_gene_variant MELA-AU 12 436281 436281 single base substitution A T intron_variant MELA-AU 12 436281 436281 single base substitution A T upstream_gene_variant MELA-AU 12 436463 436463 single base substitution C T intron_variant MELA-AU 12 436463 436463 single base substitution C T upstream_gene_variant MELA-AU 12 436548 436548 single base substitution T C intron_variant MELA-AU 12 436548 436548 single base substitution T C upstream_gene_variant MELA-AU 12 437206 437206 single base substitution G A intron_variant MELA-AU 12 437206 437206 single base substitution G A upstream_gene_variant MELA-AU 12 439632 439632 single base substitution G A downstream_gene_variant MELA-AU 12 439632 439632 single base substitution G A intron_variant MELA-AU 12 439632 439632 single base substitution G A upstream_gene_variant MELA-AU 12 439765 439765 single base substitution C T downstream_gene_variant MELA-AU 12 439765 439765 single base substitution C T intron_variant MELA-AU 12 439765 439765 single base substitution C T upstream_gene_variant MELA-AU 12 439919 439919 single base substitution T C downstream_gene_variant MELA-AU 12 439919 439919 single base substitution T C intron_variant MELA-AU 12 439919 439919 single base substitution T C upstream_gene_variant MELA-AU 12 440017 440017 single base substitution G A downstream_gene_variant MELA-AU 12 440017 440017 single base substitution G A intron_variant MELA-AU 12 440017 440017 single base substitution G A upstream_gene_variant MELA-AU 12 440107 440107 single base substitution T C downstream_gene_variant MELA-AU 12 440107 440107 single base substitution T C intron_variant MELA-AU 12 440107 440107 single base substitution T C upstream_gene_variant MELA-AU 12 440252 440252 single base substitution G A downstream_gene_variant MELA-AU 12 440252 440252 single base substitution G A intron_variant MELA-AU 12 440252 440252 single base substitution G A upstream_gene_variant MELA-AU 12 440322 440322 single base substitution G A downstream_gene_variant MELA-AU 12 440322 440322 single base substitution G A intron_variant MELA-AU 12 440322 440322 single base substitution G A upstream_gene_variant MELA-AU 12 441127 441127 single base substitution G A downstream_gene_variant MELA-AU 12 441127 441127 single base substitution G A intron_variant MELA-AU 12 441127 441127 single base substitution G A upstream_gene_variant MELA-AU 12 441630 441630 single base substitution A C downstream_gene_variant MELA-AU 12 441630 441630 single base substitution A C intron_variant MELA-AU 12 441630 441630 single base substitution A C upstream_gene_variant MELA-AU 12 442193 442193 single base substitution G A downstream_gene_variant MELA-AU 12 442193 442193 single base substitution G A intron_variant MELA-AU 12 442193 442193 single base substitution G A upstream_gene_variant MELA-AU 12 442275 442275 single base substitution G A exon_variant MELA-AU 12 442275 442275 single base substitution G A intron_variant MELA-AU 12 442275 442275 single base substitution G A upstream_gene_variant MELA-AU 12 442844 442844 single base substitution G A intron_variant MELA-AU 12 442844 442844 single base substitution G A upstream_gene_variant MELA-AU 12 443206 443206 single base substitution A T intron_variant MELA-AU 12 443206 443206 single base substitution A T upstream_gene_variant MELA-AU 12 444420 444420 single base substitution G A intron_variant MELA-AU 12 444420 444420 single base substitution G A upstream_gene_variant MELA-AU 12 444863 444863 single base substitution A G intron_variant MELA-AU 12 444863 444863 single base substitution A G upstream_gene_variant MELA-AU 12 445107 445107 single base substitution G A intron_variant MELA-AU 12 445107 445107 single base substitution G A upstream_gene_variant MELA-AU 12 445452 445452 single base substitution G A intron_variant MELA-AU 12 445452 445452 single base substitution G A upstream_gene_variant MELA-AU 12 445782 445782 single base substitution G A intron_variant MELA-AU 12 445782 445782 single base substitution G A upstream_gene_variant MELA-AU 12 445976 445976 single base substitution G A intron_variant MELA-AU 12 445976 445976 single base substitution G A upstream_gene_variant MELA-AU 12 446365 446365 single base substitution G A intron_variant MELA-AU 12 446365 446365 single base substitution G A upstream_gene_variant MELA-AU 12 446646 446646 single base substitution G A intron_variant MELA-AU 12 446646 446646 single base substitution G A upstream_gene_variant MELA-AU 12 446943 446943 single base substitution G A intron_variant MELA-AU 12 446943 446943 single base substitution G A upstream_gene_variant MELA-AU 12 447854 447854 single base substitution G A intron_variant MELA-AU 12 447854 447854 single base substitution G A upstream_gene_variant MELA-AU 12 448130 448130 single base substitution G A intron_variant MELA-AU 12 448130 448130 single base substitution G A upstream_gene_variant MELA-AU 12 448332 448332 single base substitution G A intron_variant MELA-AU 12 448332 448332 single base substitution G A upstream_gene_variant MELA-AU 12 449848 449848 single base substitution G A intron_variant MELA-AU 12 450529 450529 single base substitution G A intron_variant MELA-AU 12 450721 450721 single base substitution C A intron_variant MELA-AU 12 451094 451095 deletion of <=200bp GG - intron_variant MELA-AU 12 451098 451098 single base substitution G A intron_variant MELA-AU 12 452152 452152 single base substitution G A intron_variant MELA-AU 12 452221 452221 single base substitution G A intron_variant MELA-AU 12 452459 452459 single base substitution C T intron_variant MELA-AU 12 452477 452477 single base substitution C T intron_variant MELA-AU 12 452656 452656 single base substitution G A intron_variant MELA-AU 12 453057 453057 single base substitution G A intron_variant MELA-AU 12 453948 453948 single base substitution G A intron_variant MELA-AU 12 454353 454353 single base substitution G A intron_variant MELA-AU 12 454891 454891 single base substitution A C intron_variant MELA-AU 12 455026 455026 single base substitution G A intron_variant MELA-AU 12 455075 455075 single base substitution C T intron_variant MELA-AU 12 455669 455669 single base substitution G A intron_variant MELA-AU 12 455689 455689 single base substitution T G intron_variant MELA-AU 12 455740 455740 single base substitution G A intron_variant MELA-AU 12 456258 456258 insertion of <=200bp - A intron_variant MELA-AU 12 456464 456464 single base substitution G A intron_variant MELA-AU 12 457530 457530 single base substitution G A intron_variant MELA-AU 12 457707 457707 single base substitution G A intron_variant MELA-AU 12 458079 458079 single base substitution A G intron_variant MELA-AU 12 458577 458577 single base substitution A G intron_variant MELA-AU 12 458630 458630 single base substitution G A intron_variant MELA-AU 12 458746 458747 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 458880 458880 single base substitution T C intron_variant MELA-AU 12 459014 459014 single base substitution G T intron_variant MELA-AU 12 459238 459238 single base substitution G A intron_variant MELA-AU 12 459298 459298 single base substitution G A intron_variant MELA-AU 12 459528 459529 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 459963 459963 single base substitution A G intron_variant MELA-AU 12 460230 460230 single base substitution G A intron_variant MELA-AU 12 460286 460286 single base substitution G A intron_variant MELA-AU 12 460394 460394 single base substitution G A intron_variant MELA-AU 12 460805 460806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 460956 460956 single base substitution G A intron_variant MELA-AU 12 461590 461590 single base substitution A G intron_variant MELA-AU 12 461729 461729 single base substitution G T intron_variant MELA-AU 12 461903 461903 single base substitution G A intron_variant MELA-AU 12 462038 462038 single base substitution G A intron_variant MELA-AU 12 462536 462536 single base substitution G T intron_variant MELA-AU 12 462901 462901 single base substitution A G intron_variant MELA-AU 12 464736 464736 single base substitution A T intron_variant MELA-AU 12 465373 465373 single base substitution G A intron_variant MELA-AU 12 466161 466161 single base substitution G A intron_variant MELA-AU 12 466457 466457 single base substitution G A intron_variant MELA-AU 12 466755 466755 single base substitution G A intron_variant MELA-AU 12 466755 466756 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 467105 467105 single base substitution A G intron_variant MELA-AU 12 467137 467137 single base substitution G A intron_variant MELA-AU 12 467334 467334 single base substitution C T intron_variant MELA-AU 12 468046 468046 single base substitution G A intron_variant MELA-AU 12 469000 469000 single base substitution G A intron_variant MELA-AU 12 469535 469535 single base substitution G A intron_variant MELA-AU 12 470447 470447 single base substitution G C downstream_gene_variant MELA-AU 12 470447 470447 single base substitution G C intron_variant MELA-AU 12 470503 470504 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 470503 470504 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 470597 470597 single base substitution T A downstream_gene_variant MELA-AU 12 470597 470597 single base substitution T A intron_variant MELA-AU 12 470629 470629 single base substitution G A downstream_gene_variant MELA-AU 12 470629 470629 single base substitution G A intron_variant MELA-AU 12 471082 471082 single base substitution G A downstream_gene_variant MELA-AU 12 471082 471082 single base substitution G A intron_variant MELA-AU 12 471330 471330 single base substitution G A downstream_gene_variant MELA-AU 12 471330 471330 single base substitution G A intron_variant MELA-AU 12 471343 471344 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 471343 471344 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 471447 471447 single base substitution G A downstream_gene_variant MELA-AU 12 471447 471447 single base substitution G A intron_variant MELA-AU 12 472682 472682 single base substitution A C downstream_gene_variant MELA-AU 12 472682 472682 single base substitution A C intron_variant MELA-AU 12 473296 473296 single base substitution G A downstream_gene_variant MELA-AU 12 473296 473296 single base substitution G A intron_variant MELA-AU 12 473353 473353 single base substitution A C downstream_gene_variant MELA-AU 12 473353 473353 single base substitution A C intron_variant MELA-AU 12 473934 473934 single base substitution G A downstream_gene_variant MELA-AU 12 473934 473934 single base substitution G A intron_variant MELA-AU 12 474638 474638 single base substitution G A downstream_gene_variant MELA-AU 12 474638 474638 single base substitution G A intron_variant MELA-AU 12 475842 475842 single base substitution G A intron_variant MELA-AU 12 476938 476939 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 477179 477179 single base substitution C G intron_variant MELA-AU 12 477724 477725 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 477911 477911 single base substitution G A intron_variant MELA-AU 12 478056 478056 single base substitution G A intron_variant MELA-AU 12 478355 478355 single base substitution G A intron_variant MELA-AU 12 478657 478657 single base substitution G A intron_variant MELA-AU 12 478870 478870 single base substitution G A intron_variant MELA-AU 12 479708 479708 single base substitution G C intron_variant MELA-AU 12 479779 479779 single base substitution T C intron_variant MELA-AU 12 480134 480134 single base substitution G A intron_variant MELA-AU 12 480379 480379 single base substitution C G intron_variant MELA-AU 12 480488 480488 single base substitution A G intron_variant MELA-AU 12 480553 480553 single base substitution G A intron_variant MELA-AU 12 481550 481550 single base substitution G A intron_variant MELA-AU 12 481848 481848 single base substitution G A intron_variant MELA-AU 12 482324 482324 single base substitution G A intron_variant MELA-AU 12 483206 483206 single base substitution A G intron_variant MELA-AU 12 484028 484028 single base substitution G A intron_variant MELA-AU 12 484031 484031 single base substitution T G intron_variant MELA-AU 12 484126 484126 single base substitution G A intron_variant MELA-AU 12 484148 484148 single base substitution G A intron_variant MELA-AU 12 484495 484495 single base substitution C T intron_variant MELA-AU 12 484807 484807 single base substitution G A intron_variant MELA-AU 12 485158 485158 single base substitution G A intron_variant MELA-AU 12 485207 485207 single base substitution G A intron_variant MELA-AU 12 485290 485290 single base substitution T A intron_variant MELA-AU 12 485302 485302 single base substitution G A intron_variant MELA-AU 12 485341 485341 single base substitution G A intron_variant MELA-AU 12 485612 485612 single base substitution G A intron_variant MELA-AU 12 485858 485858 single base substitution G A intron_variant MELA-AU 12 485968 485968 single base substitution G A intron_variant MELA-AU 12 486200 486200 single base substitution G A intron_variant MELA-AU 12 486627 486627 single base substitution G A intron_variant MELA-AU 12 486927 486927 single base substitution A T intron_variant MELA-AU 12 487477 487477 single base substitution C T intron_variant MELA-AU 12 487890 487890 single base substitution C A intron_variant MELA-AU 12 488187 488187 single base substitution T C intron_variant MELA-AU 12 489008 489008 single base substitution G A downstream_gene_variant MELA-AU 12 489008 489008 single base substitution G A intron_variant MELA-AU 12 489208 489208 single base substitution G A downstream_gene_variant MELA-AU 12 489208 489208 single base substitution G A intron_variant MELA-AU 12 489940 489940 single base substitution T G downstream_gene_variant MELA-AU 12 489940 489940 single base substitution T G intron_variant MELA-AU 12 490065 490065 single base substitution G A downstream_gene_variant MELA-AU 12 490065 490065 single base substitution G A intron_variant MELA-AU 12 490181 490181 single base substitution G A downstream_gene_variant MELA-AU 12 490181 490181 single base substitution G A intron_variant MELA-AU 12 490684 490684 single base substitution A G downstream_gene_variant MELA-AU 12 490684 490684 single base substitution A G intron_variant MELA-AU 12 490711 490711 single base substitution G A downstream_gene_variant MELA-AU 12 490711 490711 single base substitution G A intron_variant MELA-AU 12 491416 491416 single base substitution G A downstream_gene_variant MELA-AU 12 491416 491416 single base substitution G A intron_variant MELA-AU 12 491991 491991 single base substitution G A downstream_gene_variant MELA-AU 12 491991 491991 single base substitution G A intron_variant MELA-AU 12 493221 493221 single base substitution G A intron_variant MELA-AU 12 493221 493221 single base substitution G A synonymous_variant I114I 342C>T MELA-AU 12 493221 493221 single base substitution G A synonymous_variant I123I 369C>T MELA-AU 12 493221 493221 single base substitution G A synonymous_variant I95I 285C>T MELA-AU 12 493739 493739 single base substitution T C intron_variant MELA-AU 12 494170 494170 single base substitution A G intron_variant MELA-AU 12 498412 498412 single base substitution C T 5_prime_UTR_variant MELA-AU 12 498412 498412 single base substitution C T upstream_gene_variant MELA-AU 12 498731 498731 single base substitution G A upstream_gene_variant MELA-AU 12 498753 498753 single base substitution G A upstream_gene_variant MELA-AU 12 498776 498776 single base substitution C T upstream_gene_variant MELA-AU 12 498779 498779 single base substitution C T upstream_gene_variant MELA-AU 12 498818 498818 single base substitution T C upstream_gene_variant MELA-AU 12 498841 498842 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 499971 499971 single base substitution G A upstream_gene_variant MELA-AU 12 500598 500598 single base substitution G A upstream_gene_variant MELA-AU 12 500859 500859 single base substitution C T upstream_gene_variant MELA-AU 12 500911 500911 single base substitution T C upstream_gene_variant MELA-AU 12 501707 501707 single base substitution C T upstream_gene_variant MELA-AU 12 502293 502293 single base substitution T G upstream_gene_variant MELA-AU 12 502299 502299 single base substitution C T upstream_gene_variant MELA-AU 12 502530 502530 single base substitution C T upstream_gene_variant ORCA-IN 12 394360 394360 single base substitution G A 3_prime_UTR_variant ORCA-IN 12 394360 394360 single base substitution G A downstream_gene_variant ORCA-IN 12 420206 420206 single base substitution C A exon_variant ORCA-IN 12 420206 420206 single base substitution C A stop_gained E1021* 3061G>T ORCA-IN 12 420206 420206 single base substitution C A stop_gained E640* 1918G>T ORCA-IN 12 420206 420206 single base substitution C A upstream_gene_variant ORCA-IN 12 420223 420223 single base substitution C A exon_variant ORCA-IN 12 420223 420223 single base substitution C A missense_variant S1015I 3044G>T ORCA-IN 12 420223 420223 single base substitution C A missense_variant S634I 1901G>T ORCA-IN 12 420223 420223 single base substitution C A upstream_gene_variant ORCA-IN 12 434185 434185 single base substitution C T intron_variant ORCA-IN 12 434185 434185 single base substitution C T upstream_gene_variant ORCA-IN 12 457543 457543 single base substitution G C intron_variant ORCA-IN 12 459787 459787 single base substitution C A intron_variant ORCA-IN 12 459787 459787 single base substitution C A missense_variant E436D 1308G>T OV-AU 12 386533 386533 single base substitution C A downstream_gene_variant OV-AU 12 406287 406287 single base substitution T G missense_variant E1385A 4154A>C OV-AU 12 406287 406287 single base substitution T G upstream_gene_variant OV-AU 12 419097 419097 single base substitution C T exon_variant OV-AU 12 419097 419097 single base substitution C T missense_variant G1084R 3250G>A OV-AU 12 419097 419097 single base substitution C T missense_variant G703R 2107G>A OV-AU 12 419097 419097 single base substitution C T upstream_gene_variant OV-AU 12 421558 421558 single base substitution G T intron_variant OV-AU 12 421558 421558 single base substitution G T upstream_gene_variant OV-AU 12 433567 433567 single base substitution A G intron_variant OV-AU 12 433567 433567 single base substitution A G upstream_gene_variant OV-AU 12 436281 436281 single base substitution A C intron_variant OV-AU 12 436281 436281 single base substitution A C upstream_gene_variant OV-AU 12 439253 439253 single base substitution A G downstream_gene_variant OV-AU 12 439253 439253 single base substitution A G intron_variant OV-AU 12 439253 439253 single base substitution A G upstream_gene_variant OV-AU 12 442266 442266 single base substitution T C exon_variant OV-AU 12 442266 442266 single base substitution T C intron_variant OV-AU 12 442266 442266 single base substitution T C upstream_gene_variant OV-AU 12 446919 446919 single base substitution C T intron_variant OV-AU 12 446919 446919 single base substitution C T upstream_gene_variant OV-AU 12 447005 447005 single base substitution C T intron_variant OV-AU 12 447005 447005 single base substitution C T upstream_gene_variant OV-AU 12 452672 452672 single base substitution G C intron_variant OV-AU 12 452917 452917 single base substitution C T intron_variant OV-AU 12 454192 454192 single base substitution C T intron_variant OV-AU 12 454836 454836 single base substitution G T intron_variant OV-AU 12 458416 458416 single base substitution C G intron_variant OV-AU 12 464007 464007 single base substitution T C intron_variant OV-AU 12 472113 472113 single base substitution C A downstream_gene_variant OV-AU 12 472113 472113 single base substitution C A intron_variant OV-AU 12 472708 472708 single base substitution G A downstream_gene_variant OV-AU 12 472708 472708 single base substitution G A intron_variant OV-AU 12 474439 474439 single base substitution C T downstream_gene_variant OV-AU 12 474439 474439 single base substitution C T intron_variant OV-AU 12 476277 476277 single base substitution T G intron_variant OV-AU 12 480484 480484 single base substitution T A intron_variant OV-AU 12 484799 484799 single base substitution T C intron_variant OV-AU 12 484882 484882 single base substitution T A intron_variant OV-AU 12 494514 494514 single base substitution G A intron_variant PACA-AU 12 386837 386837 single base substitution G C downstream_gene_variant PACA-AU 12 387460 387460 single base substitution A G downstream_gene_variant PACA-AU 12 388530 388530 single base substitution G T downstream_gene_variant PACA-AU 12 390828 390828 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 12 390828 390828 deletion of <=200bp A - downstream_gene_variant PACA-AU 12 399063 399065 deletion of <=200bp TTC - intron_variant PACA-AU 12 399524 399524 single base substitution C G intron_variant PACA-AU 12 405316 405316 single base substitution C G intron_variant PACA-AU 12 405316 405316 single base substitution C G upstream_gene_variant PACA-AU 12 411301 411301 single base substitution C G downstream_gene_variant PACA-AU 12 411301 411301 single base substitution C G intron_variant PACA-AU 12 416482 416482 single base substitution T C downstream_gene_variant PACA-AU 12 416482 416482 single base substitution T C intron_variant PACA-AU 12 417403 417403 single base substitution C A downstream_gene_variant PACA-AU 12 417403 417403 single base substitution C A intron_variant PACA-AU 12 417403 417403 single base substitution C A upstream_gene_variant PACA-AU 12 418001 418001 single base substitution G T downstream_gene_variant PACA-AU 12 418001 418001 single base substitution G T intron_variant PACA-AU 12 418001 418001 single base substitution G T upstream_gene_variant PACA-AU 12 420959 420959 single base substitution G A intron_variant PACA-AU 12 420959 420959 single base substitution G A upstream_gene_variant PACA-AU 12 424526 424526 single base substitution G C intron_variant PACA-AU 12 424526 424526 single base substitution G C upstream_gene_variant PACA-AU 12 425451 425452 deletion of <=200bp TC - intron_variant PACA-AU 12 428158 428158 single base substitution G A downstream_gene_variant PACA-AU 12 428158 428158 single base substitution G A intron_variant PACA-AU 12 432871 432871 single base substitution G A exon_variant PACA-AU 12 432871 432871 single base substitution G A missense_variant T301I 902C>T PACA-AU 12 432871 432871 single base substitution G A missense_variant T682I 2045C>T PACA-AU 12 432871 432871 single base substitution G A upstream_gene_variant PACA-AU 12 433294 433294 single base substitution G A intron_variant PACA-AU 12 433294 433294 single base substitution G A upstream_gene_variant PACA-AU 12 434041 434044 deletion of <=200bp AAAG - intron_variant PACA-AU 12 434041 434044 deletion of <=200bp AAAG - upstream_gene_variant PACA-AU 12 434223 434223 single base substitution G C intron_variant PACA-AU 12 434223 434223 single base substitution G C upstream_gene_variant PACA-AU 12 436512 436512 single base substitution G C intron_variant PACA-AU 12 436512 436512 single base substitution G C upstream_gene_variant PACA-AU 12 436951 436951 single base substitution G T intron_variant PACA-AU 12 436951 436951 single base substitution G T upstream_gene_variant PACA-AU 12 437209 437209 single base substitution G C intron_variant PACA-AU 12 437209 437209 single base substitution G C upstream_gene_variant PACA-AU 12 437244 437244 single base substitution G A downstream_gene_variant PACA-AU 12 437244 437244 single base substitution G A intron_variant PACA-AU 12 437244 437244 single base substitution G A upstream_gene_variant PACA-AU 12 437296 437296 single base substitution G T downstream_gene_variant PACA-AU 12 437296 437296 single base substitution G T intron_variant PACA-AU 12 437296 437296 single base substitution G T upstream_gene_variant PACA-AU 12 437474 437474 single base substitution G A downstream_gene_variant PACA-AU 12 437474 437474 single base substitution G A intron_variant PACA-AU 12 437494 437494 single base substitution G A downstream_gene_variant PACA-AU 12 437494 437494 single base substitution G A intron_variant PACA-AU 12 437497 437497 single base substitution G A downstream_gene_variant PACA-AU 12 437497 437497 single base substitution G A intron_variant PACA-AU 12 441947 441947 single base substitution G A downstream_gene_variant PACA-AU 12 441947 441947 single base substitution G A intron_variant PACA-AU 12 441947 441947 single base substitution G A upstream_gene_variant PACA-AU 12 444342 444342 single base substitution G C intron_variant PACA-AU 12 444342 444342 single base substitution G C upstream_gene_variant PACA-AU 12 450187 450187 single base substitution A G intron_variant PACA-AU 12 464563 464563 single base substitution G T intron_variant PACA-AU 12 464786 464786 single base substitution G C intron_variant PACA-AU 12 464879 464879 single base substitution G C intron_variant PACA-AU 12 464933 464933 single base substitution G C intron_variant PACA-AU 12 465059 465059 single base substitution G C intron_variant PACA-AU 12 465077 465077 single base substitution G C intron_variant PACA-AU 12 465121 465121 single base substitution G A intron_variant PACA-AU 12 465172 465172 single base substitution G C intron_variant PACA-AU 12 475203 475203 single base substitution C T downstream_gene_variant PACA-AU 12 475203 475203 single base substitution C T intron_variant PACA-AU 12 475203 475203 single base substitution C T missense_variant R104H 311G>A PACA-AU 12 475203 475203 single base substitution C T missense_variant R145H 434G>A PACA-AU 12 478736 478736 single base substitution C T intron_variant PACA-AU 12 478926 478926 single base substitution G C intron_variant PACA-AU 12 489616 489616 single base substitution T C downstream_gene_variant PACA-AU 12 489616 489616 single base substitution T C intron_variant PACA-AU 12 491192 491192 single base substitution G C downstream_gene_variant PACA-AU 12 491192 491192 single base substitution G C intron_variant PACA-AU 12 498017 498017 single base substitution G C intron_variant PACA-AU 12 498017 498017 single base substitution G C upstream_gene_variant PACA-AU 12 499042 499044 deletion of <=200bp TCT - upstream_gene_variant PACA-CA 12 387460 387460 single base substitution A G downstream_gene_variant PACA-CA 12 396677 396677 single base substitution A G intron_variant PACA-CA 12 400867 400867 single base substitution A G intron_variant PACA-CA 12 402214 402214 single base substitution T G missense_variant E1526A 4577A>C PACA-CA 12 402214 402214 single base substitution T G upstream_gene_variant PACA-CA 12 402390 402390 single base substitution A G intron_variant PACA-CA 12 402390 402390 single base substitution A G upstream_gene_variant PACA-CA 12 405161 405161 deletion of <=200bp A - intron_variant PACA-CA 12 405161 405161 deletion of <=200bp A - upstream_gene_variant PACA-CA 12 408185 408185 single base substitution C T intron_variant PACA-CA 12 411994 411994 single base substitution A G downstream_gene_variant PACA-CA 12 411994 411994 single base substitution A G intron_variant PACA-CA 12 420934 420934 single base substitution T C intron_variant PACA-CA 12 420934 420934 single base substitution T C upstream_gene_variant PACA-CA 12 421568 421568 single base substitution T C intron_variant PACA-CA 12 421568 421568 single base substitution T C upstream_gene_variant PACA-CA 12 424291 424291 single base substitution G A intron_variant PACA-CA 12 424291 424291 single base substitution G A upstream_gene_variant PACA-CA 12 424426 424426 single base substitution C T intron_variant PACA-CA 12 424426 424426 single base substitution C T upstream_gene_variant PACA-CA 12 429641 429641 single base substitution G A downstream_gene_variant PACA-CA 12 429641 429641 single base substitution G A intron_variant PACA-CA 12 430112 430112 deletion of <=200bp G - downstream_gene_variant PACA-CA 12 430112 430112 deletion of <=200bp G - intron_variant PACA-CA 12 435505 435505 single base substitution A T intron_variant PACA-CA 12 435505 435505 single base substitution A T upstream_gene_variant PACA-CA 12 443921 443921 single base substitution G A intron_variant PACA-CA 12 443921 443921 single base substitution G A upstream_gene_variant PACA-CA 12 448412 448412 single base substitution G T intron_variant PACA-CA 12 448412 448412 single base substitution G T upstream_gene_variant PACA-CA 12 450713 450713 insertion of <=200bp - A intron_variant PACA-CA 12 453725 453725 single base substitution G A intron_variant PACA-CA 12 454457 454457 single base substitution G A intron_variant PACA-CA 12 454620 454620 single base substitution A G intron_variant PACA-CA 12 457488 457488 single base substitution A G intron_variant PACA-CA 12 458430 458430 single base substitution C T intron_variant PACA-CA 12 459703 459703 single base substitution A C intron_variant PACA-CA 12 461062 461062 single base substitution G A intron_variant PACA-CA 12 465856 465856 single base substitution T C intron_variant PACA-CA 12 469364 469364 single base substitution C T intron_variant PACA-CA 12 472492 472492 insertion of <=200bp - A downstream_gene_variant PACA-CA 12 472492 472492 insertion of <=200bp - A intron_variant PACA-CA 12 473375 473375 single base substitution C T downstream_gene_variant PACA-CA 12 473375 473375 single base substitution C T intron_variant PACA-CA 12 473820 473820 single base substitution G A downstream_gene_variant PACA-CA 12 473820 473820 single base substitution G A intron_variant PACA-CA 12 481311 481311 single base substitution G A intron_variant PACA-CA 12 481766 481766 single base substitution C T intron_variant PACA-CA 12 487683 487683 single base substitution G A intron_variant PACA-CA 12 488396 488396 single base substitution T A downstream_gene_variant PACA-CA 12 488396 488396 single base substitution T A intron_variant PACA-CA 12 489970 489970 single base substitution T A downstream_gene_variant PACA-CA 12 489970 489970 single base substitution T A intron_variant PACA-CA 12 491654 491654 single base substitution C G downstream_gene_variant PACA-CA 12 491654 491654 single base substitution C G intron_variant PACA-CA 12 491796 491796 single base substitution A G downstream_gene_variant PACA-CA 12 491796 491796 single base substitution A G intron_variant PACA-CA 12 493900 493900 single base substitution C T intron_variant PACA-CA 12 497993 497993 single base substitution A G intron_variant PACA-CA 12 497993 497993 single base substitution A G upstream_gene_variant PACA-CA 12 500404 500404 single base substitution G C upstream_gene_variant PACA-CA 12 500985 500985 single base substitution T C upstream_gene_variant PACA-CA 12 502492 502492 single base substitution C G upstream_gene_variant PAEN-AU 12 395210 395210 single base substitution A C downstream_gene_variant PAEN-AU 12 395210 395210 single base substitution A C intron_variant PAEN-AU 12 400176 400176 single base substitution C A intron_variant PAEN-AU 12 470376 470376 single base substitution C T downstream_gene_variant PAEN-AU 12 470376 470376 single base substitution C T intron_variant PAEN-IT 12 391422 391422 single base substitution C A 3_prime_UTR_variant PAEN-IT 12 391422 391422 single base substitution C A downstream_gene_variant PAEN-IT 12 446131 446131 single base substitution G T intron_variant PAEN-IT 12 446131 446131 single base substitution G T upstream_gene_variant PAEN-IT 12 447135 447135 single base substitution A G intron_variant PAEN-IT 12 447135 447135 single base substitution A G upstream_gene_variant PBCA-DE 12 388620 388620 single base substitution T C downstream_gene_variant PBCA-DE 12 397722 397722 single base substitution A T intron_variant PBCA-DE 12 423702 423702 single base substitution T G intron_variant PBCA-DE 12 423702 423702 single base substitution T G upstream_gene_variant PBCA-DE 12 434659 434659 insertion of <=200bp - GCCAAC intron_variant PBCA-DE 12 434659 434659 insertion of <=200bp - GCCAAC upstream_gene_variant PBCA-DE 12 436030 436039 deletion of <=200bp CAAAAAAAAA - intron_variant PBCA-DE 12 436030 436039 deletion of <=200bp CAAAAAAAAA - upstream_gene_variant PBCA-DE 12 437579 437579 single base substitution G A downstream_gene_variant PBCA-DE 12 437579 437579 single base substitution G A intron_variant PBCA-DE 12 438654 438654 insertion of <=200bp - A downstream_gene_variant PBCA-DE 12 438654 438654 insertion of <=200bp - A intron_variant PBCA-DE 12 438654 438654 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 440307 440307 deletion of <=200bp A - downstream_gene_variant PBCA-DE 12 440307 440307 deletion of <=200bp A - intron_variant PBCA-DE 12 440307 440307 deletion of <=200bp A - upstream_gene_variant PBCA-DE 12 444849 444849 insertion of <=200bp - TG intron_variant PBCA-DE 12 444849 444849 insertion of <=200bp - TG upstream_gene_variant PBCA-DE 12 447820 447820 single base substitution T A intron_variant PBCA-DE 12 447820 447820 single base substitution T A upstream_gene_variant PBCA-DE 12 455739 455739 single base substitution C T intron_variant PBCA-DE 12 458475 458475 single base substitution C T intron_variant PBCA-DE 12 469440 469440 deletion of <=200bp A - intron_variant PBCA-DE 12 474952 474952 single base substitution T C downstream_gene_variant PBCA-DE 12 474952 474952 single base substitution T C intron_variant PBCA-DE 12 475299 475299 deletion of <=200bp A - intron_variant PBCA-DE 12 490811 490811 single base substitution C A downstream_gene_variant PBCA-DE 12 490811 490811 single base substitution C A intron_variant PBCA-DE 12 496075 496075 insertion of <=200bp - A intron_variant PBCA-DE 12 500721 500721 single base substitution C A upstream_gene_variant PBCA-DE 12 501338 501338 deletion of <=200bp A - upstream_gene_variant PBCA-DE 12 501349 501349 single base substitution T A upstream_gene_variant PRAD-CA 12 386247 386247 single base substitution G C downstream_gene_variant PRAD-CA 12 390508 390508 single base substitution C G 3_prime_UTR_variant PRAD-CA 12 390508 390508 single base substitution C G downstream_gene_variant PRAD-CA 12 423063 423063 single base substitution C T intron_variant PRAD-CA 12 423063 423063 single base substitution C T upstream_gene_variant PRAD-CA 12 432429 432429 single base substitution A T downstream_gene_variant PRAD-CA 12 432429 432429 single base substitution A T intron_variant PRAD-CA 12 432429 432429 single base substitution A T upstream_gene_variant PRAD-CA 12 434044 434044 single base substitution G A intron_variant PRAD-CA 12 434044 434044 single base substitution G A upstream_gene_variant PRAD-CA 12 444986 444986 single base substitution T C intron_variant PRAD-CA 12 444986 444986 single base substitution T C upstream_gene_variant PRAD-CA 12 451132 451132 single base substitution A T intron_variant PRAD-CA 12 467419 467419 single base substitution A C intron_variant PRAD-CA 12 469364 469364 single base substitution C T intron_variant PRAD-CA 12 478201 478201 single base substitution A C intron_variant PRAD-CA 12 488228 488228 single base substitution G C downstream_gene_variant PRAD-CA 12 488228 488228 single base substitution G C intron_variant PRAD-CA 12 502359 502359 single base substitution C T upstream_gene_variant PRAD-UK 12 405044 405044 deletion of <=200bp C - intron_variant PRAD-UK 12 405044 405044 deletion of <=200bp C - upstream_gene_variant PRAD-UK 12 416863 416863 single base substitution G C downstream_gene_variant PRAD-UK 12 416863 416863 single base substitution G C exon_variant PRAD-UK 12 416863 416863 single base substitution G C synonymous_variant L1229L 3687C>G PRAD-UK 12 427526 427526 single base substitution G A downstream_gene_variant PRAD-UK 12 427526 427526 single base substitution G A synonymous_variant G500G 1500C>T PRAD-UK 12 427526 427526 single base substitution G A synonymous_variant G881G 2643C>T PRAD-UK 12 431926 431926 single base substitution A T downstream_gene_variant PRAD-UK 12 431926 431926 single base substitution A T intron_variant PRAD-UK 12 448741 448741 single base substitution T G intron_variant PRAD-UK 12 450333 450333 single base substitution A C intron_variant PRAD-UK 12 453760 453760 single base substitution A G intron_variant PRAD-UK 12 468133 468133 single base substitution T A intron_variant PRAD-UK 12 469275 469275 single base substitution C T intron_variant PRAD-UK 12 485890 485890 single base substitution T A intron_variant PRAD-US 12 417035 417035 single base substitution C A downstream_gene_variant PRAD-US 12 417035 417035 single base substitution C A missense_variant G1172V 3515G>T PRAD-US 12 417035 417035 single base substitution C A upstream_gene_variant READ-US 12 406230 406230 single base substitution G T missense_variant S1404Y 4211C>A READ-US 12 406230 406230 single base substitution G T upstream_gene_variant READ-US 12 438067 438067 single base substitution C T downstream_gene_variant READ-US 12 438067 438067 single base substitution C T exon_variant READ-US 12 438067 438067 single base substitution C T missense_variant M253I 759G>A READ-US 12 438067 438067 single base substitution C T missense_variant M634I 1902G>A RECA-EU 12 386190 386190 single base substitution A C downstream_gene_variant RECA-EU 12 387273 387273 single base substitution T A downstream_gene_variant RECA-EU 12 389976 389976 single base substitution A T 3_prime_UTR_variant RECA-EU 12 389976 389976 single base substitution A T downstream_gene_variant RECA-EU 12 398124 398124 single base substitution T A intron_variant RECA-EU 12 399517 399517 single base substitution C T intron_variant RECA-EU 12 403923 403923 single base substitution G T intron_variant RECA-EU 12 403923 403923 single base substitution G T upstream_gene_variant RECA-EU 12 415091 415091 single base substitution C T downstream_gene_variant RECA-EU 12 415091 415091 single base substitution C T intron_variant RECA-EU 12 415713 415713 single base substitution A T downstream_gene_variant RECA-EU 12 415713 415713 single base substitution A T intron_variant RECA-EU 12 426144 426144 single base substitution A G intron_variant RECA-EU 12 427269 427269 single base substitution C T downstream_gene_variant RECA-EU 12 427269 427269 single base substitution C T splice_region_variant RECA-EU 12 450769 450769 single base substitution C A intron_variant RECA-EU 12 460008 460008 single base substitution A C intron_variant RECA-EU 12 460704 460704 single base substitution A T intron_variant RECA-EU 12 465602 465602 single base substitution T A intron_variant RECA-EU 12 465602 465602 single base substitution T A missense_variant K258N 774A>T RECA-EU 12 473629 473629 single base substitution C T downstream_gene_variant RECA-EU 12 473629 473629 single base substitution C T intron_variant RECA-EU 12 493989 493989 single base substitution T A intron_variant SKCA-BR 12 385868 385868 single base substitution G A downstream_gene_variant SKCA-BR 12 385962 385962 single base substitution G A downstream_gene_variant SKCA-BR 12 401834 401834 single base substitution A G intron_variant SKCA-BR 12 404596 404596 single base substitution G A intron_variant SKCA-BR 12 404596 404596 single base substitution G A upstream_gene_variant SKCA-BR 12 409080 409080 single base substitution T C intron_variant SKCA-BR 12 411887 411887 single base substitution G A downstream_gene_variant SKCA-BR 12 411887 411887 single base substitution G A intron_variant SKCA-BR 12 413727 413727 single base substitution A G downstream_gene_variant SKCA-BR 12 413727 413727 single base substitution A G intron_variant SKCA-BR 12 418748 418748 single base substitution G A downstream_gene_variant SKCA-BR 12 418748 418748 single base substitution G A intron_variant SKCA-BR 12 418748 418748 single base substitution G A upstream_gene_variant SKCA-BR 12 419500 419500 single base substitution G A intron_variant SKCA-BR 12 419500 419500 single base substitution G A upstream_gene_variant SKCA-BR 12 420988 420988 single base substitution T G intron_variant SKCA-BR 12 420988 420988 single base substitution T G upstream_gene_variant SKCA-BR 12 422759 422759 single base substitution G A intron_variant SKCA-BR 12 422759 422759 single base substitution G A upstream_gene_variant SKCA-BR 12 428814 428814 single base substitution G A downstream_gene_variant SKCA-BR 12 428814 428814 single base substitution G A intron_variant SKCA-BR 12 431547 431547 single base substitution G A downstream_gene_variant SKCA-BR 12 431547 431547 single base substitution G A exon_variant SKCA-BR 12 431547 431547 single base substitution G A intron_variant SKCA-BR 12 432115 432115 single base substitution A G downstream_gene_variant SKCA-BR 12 432115 432115 single base substitution A G intron_variant SKCA-BR 12 432897 432897 single base substitution C T exon_variant SKCA-BR 12 432897 432897 single base substitution C T synonymous_variant E292E 876G>A SKCA-BR 12 432897 432897 single base substitution C T synonymous_variant E673E 2019G>A SKCA-BR 12 432897 432897 single base substitution C T upstream_gene_variant SKCA-BR 12 435713 435713 single base substitution G A intron_variant SKCA-BR 12 435713 435713 single base substitution G A upstream_gene_variant SKCA-BR 12 436531 436531 single base substitution G A intron_variant SKCA-BR 12 436531 436531 single base substitution G A upstream_gene_variant SKCA-BR 12 437911 437911 single base substitution G A downstream_gene_variant SKCA-BR 12 437911 437911 single base substitution G A intron_variant SKCA-BR 12 439249 439249 insertion of <=200bp - GTATA downstream_gene_variant SKCA-BR 12 439249 439249 insertion of <=200bp - GTATA intron_variant SKCA-BR 12 439249 439249 insertion of <=200bp - GTATA upstream_gene_variant SKCA-BR 12 440124 440124 single base substitution A C downstream_gene_variant SKCA-BR 12 440124 440124 single base substitution A C intron_variant SKCA-BR 12 440124 440124 single base substitution A C upstream_gene_variant SKCA-BR 12 440731 440731 single base substitution G C downstream_gene_variant SKCA-BR 12 440731 440731 single base substitution G C intron_variant SKCA-BR 12 440731 440731 single base substitution G C upstream_gene_variant SKCA-BR 12 442108 442108 single base substitution A T downstream_gene_variant SKCA-BR 12 442108 442108 single base substitution A T intron_variant SKCA-BR 12 442108 442108 single base substitution A T upstream_gene_variant SKCA-BR 12 445524 445525 deletion of <=200bp TA - intron_variant SKCA-BR 12 445524 445525 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 12 448051 448051 single base substitution A G intron_variant SKCA-BR 12 448051 448051 single base substitution A G upstream_gene_variant SKCA-BR 12 454359 454359 single base substitution G A intron_variant SKCA-BR 12 454445 454445 single base substitution G A intron_variant SKCA-BR 12 457531 457531 single base substitution G A intron_variant SKCA-BR 12 458187 458188 deletion of <=200bp CT - intron_variant SKCA-BR 12 458958 458958 single base substitution G A intron_variant SKCA-BR 12 459593 459593 insertion of <=200bp - CA intron_variant SKCA-BR 12 462346 462346 single base substitution A T intron_variant SKCA-BR 12 463138 463138 single base substitution G A intron_variant SKCA-BR 12 466504 466504 insertion of <=200bp - CAAA intron_variant SKCA-BR 12 473781 473781 single base substitution C T downstream_gene_variant SKCA-BR 12 473781 473781 single base substitution C T intron_variant SKCA-BR 12 476350 476350 single base substitution G A intron_variant SKCA-BR 12 478445 478445 single base substitution G A intron_variant SKCA-BR 12 479613 479613 single base substitution C A intron_variant SKCA-BR 12 481517 481517 single base substitution G C intron_variant SKCA-BR 12 485791 485791 single base substitution T C intron_variant SKCA-BR 12 489412 489412 single base substitution G A downstream_gene_variant SKCA-BR 12 489412 489412 single base substitution G A intron_variant SKCA-BR 12 492385 492386 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 12 492385 492386 deletion of <=200bp CT - intron_variant SKCA-BR 12 492404 492404 single base substitution G A downstream_gene_variant SKCA-BR 12 492404 492404 single base substitution G A intron_variant SKCA-BR 12 498738 498738 single base substitution A G upstream_gene_variant SKCA-BR 12 498776 498776 single base substitution C T upstream_gene_variant SKCA-BR 12 498939 498939 single base substitution C T upstream_gene_variant SKCA-BR 12 499286 499287 deletion of <=200bp CA - upstream_gene_variant SKCM-US 12 394648 394648 single base substitution T C downstream_gene_variant SKCM-US 12 394648 394648 single base substitution T C exon_variant SKCM-US 12 394648 394648 single base substitution T C missense_variant M1683V 5047A>G SKCM-US 12 404911 404911 single base substitution C T missense_variant R1428Q 4283G>A SKCM-US 12 404911 404911 single base substitution C T upstream_gene_variant SKCM-US 12 404935 404935 single base substitution G A missense_variant P1420L 4259C>T SKCM-US 12 404935 404935 single base substitution G A upstream_gene_variant SKCM-US 12 406238 406238 single base substitution A G synonymous_variant A1401A 4203T>C SKCM-US 12 406238 406238 single base substitution A G upstream_gene_variant SKCM-US 12 416839 416839 single base substitution G A downstream_gene_variant SKCM-US 12 416839 416839 single base substitution G A exon_variant SKCM-US 12 416839 416839 single base substitution G A synonymous_variant P1237P 3711C>T SKCM-US 12 416919 416919 single base substitution G A downstream_gene_variant SKCM-US 12 416919 416919 single base substitution G A exon_variant SKCM-US 12 416919 416919 single base substitution G A missense_variant L1211F 3631C>T SKCM-US 12 416948 416948 single base substitution G A downstream_gene_variant SKCM-US 12 416948 416948 single base substitution G A missense_variant S1201F 3602C>T SKCM-US 12 416948 416948 single base substitution G A upstream_gene_variant SKCM-US 12 417100 417100 single base substitution G A downstream_gene_variant SKCM-US 12 417100 417100 single base substitution G A synonymous_variant A1150A 3450C>T SKCM-US 12 417100 417100 single base substitution G A upstream_gene_variant SKCM-US 12 431694 431694 single base substitution T G downstream_gene_variant SKCM-US 12 431694 431694 single base substitution T G exon_variant SKCM-US 12 431694 431694 single base substitution T G missense_variant D391A 1172A>C SKCM-US 12 431694 431694 single base substitution T G missense_variant D772A 2315A>C SKCM-US 12 431722 431722 single base substitution A C downstream_gene_variant SKCM-US 12 431722 431722 single base substitution A C exon_variant SKCM-US 12 431722 431722 single base substitution A C missense_variant L382V 1144T>G SKCM-US 12 431722 431722 single base substitution A C missense_variant L763V 2287T>G SKCM-US 12 432368 432368 single base substitution G A downstream_gene_variant SKCM-US 12 432368 432368 single base substitution G A missense_variant R338C 1012C>T SKCM-US 12 432368 432368 single base substitution G A missense_variant R719C 2155C>T SKCM-US 12 432368 432368 single base substitution G A upstream_gene_variant SKCM-US 12 432786 432786 single base substitution G A exon_variant SKCM-US 12 432786 432786 single base substitution G A synonymous_variant P329P 987C>T SKCM-US 12 432786 432786 single base substitution G A synonymous_variant P710P 2130C>T SKCM-US 12 432786 432786 single base substitution G A upstream_gene_variant SKCM-US 12 438098 438098 single base substitution G A downstream_gene_variant SKCM-US 12 438098 438098 single base substitution G A exon_variant SKCM-US 12 438098 438098 single base substitution G A missense_variant P243L 728C>T SKCM-US 12 438098 438098 single base substitution G A missense_variant P624L 1871C>T SKCM-US 12 438196 438196 single base substitution C T downstream_gene_variant SKCM-US 12 438196 438196 single base substitution C T exon_variant SKCM-US 12 438196 438196 single base substitution C T splice_acceptor_variant SKCM-US 12 463244 463244 single base substitution C T intron_variant SKCM-US 12 463244 463244 single base substitution C T missense_variant E343K 1027G>A SKCM-US 12 463297 463297 single base substitution G A intron_variant SKCM-US 12 463297 463297 single base substitution G A missense_variant P325L 974C>T SKCM-US 12 493221 493221 single base substitution G A intron_variant SKCM-US 12 493221 493221 single base substitution G A synonymous_variant I114I 342C>T SKCM-US 12 493221 493221 single base substitution G A synonymous_variant I123I 369C>T SKCM-US 12 493221 493221 single base substitution G A synonymous_variant I95I 285C>T STAD-US 12 401986 401986 single base substitution T C exon_variant STAD-US 12 401986 401986 single base substitution T C missense_variant E1602G 4805A>G STAD-US 12 416652 416652 single base substitution G A downstream_gene_variant STAD-US 12 416652 416652 single base substitution G A exon_variant STAD-US 12 416652 416652 single base substitution G A missense_variant L1300F 3898C>T STAD-US 12 416792 416792 single base substitution G A downstream_gene_variant STAD-US 12 416792 416792 single base substitution G A exon_variant STAD-US 12 416792 416792 single base substitution G A missense_variant A1253V 3758C>T STAD-US 12 416953 416953 insertion of <=200bp - T downstream_gene_variant STAD-US 12 416953 416953 insertion of <=200bp - T frameshift_variant K1199K? STAD-US 12 416953 416953 insertion of <=200bp - T upstream_gene_variant STAD-US 12 416989 416989 single base substitution G A downstream_gene_variant STAD-US 12 416989 416989 single base substitution G A synonymous_variant S1187S 3561C>T STAD-US 12 416989 416989 single base substitution G A upstream_gene_variant STAD-US 12 419071 419071 deletion of <=200bp T - exon_variant STAD-US 12 419071 419071 deletion of <=200bp T - frameshift_variant K1092 STAD-US 12 419071 419071 deletion of <=200bp T - frameshift_variant K711 STAD-US 12 419071 419071 deletion of <=200bp T - upstream_gene_variant STAD-US 12 420145 420145 single base substitution G A exon_variant STAD-US 12 420145 420145 single base substitution G A missense_variant P1041L 3122C>T STAD-US 12 420145 420145 single base substitution G A missense_variant P660L 1979C>T STAD-US 12 420145 420145 single base substitution G A upstream_gene_variant STAD-US 12 427454 427454 single base substitution G A downstream_gene_variant STAD-US 12 427454 427454 single base substitution G A synonymous_variant D524D 1572C>T STAD-US 12 427454 427454 single base substitution G A synonymous_variant D905D 2715C>T STAD-US 12 427487 427487 single base substitution C T downstream_gene_variant STAD-US 12 427487 427487 single base substitution C T synonymous_variant L513L 1539G>A STAD-US 12 427487 427487 single base substitution C T synonymous_variant L894L 2682G>A STAD-US 12 427605 427605 single base substitution T A downstream_gene_variant STAD-US 12 427605 427605 single base substitution T A missense_variant E474V 1421A>T STAD-US 12 427605 427605 single base substitution T A missense_variant E855V 2564A>T STAD-US 12 430229 430229 single base substitution C A downstream_gene_variant STAD-US 12 430229 430229 single base substitution C A stop_gained E444* 1330G>T STAD-US 12 430229 430229 single base substitution C A stop_gained E825* 2473G>T STAD-US 12 432249 432249 deletion of <=200bp T - downstream_gene_variant STAD-US 12 432249 432249 deletion of <=200bp T - frameshift_variant K377 STAD-US 12 432249 432249 deletion of <=200bp T - frameshift_variant K758 STAD-US 12 432249 432249 deletion of <=200bp T - splice_region_variant STAD-US 12 432777 432777 single base substitution C A exon_variant STAD-US 12 432777 432777 single base substitution C A missense_variant K332N 996G>T STAD-US 12 432777 432777 single base substitution C A missense_variant K713N 2139G>T STAD-US 12 432777 432777 single base substitution C A upstream_gene_variant STAD-US 12 432818 432818 single base substitution G A exon_variant STAD-US 12 432818 432818 single base substitution G A missense_variant L319F 955C>T STAD-US 12 432818 432818 single base substitution G A missense_variant L700F 2098C>T STAD-US 12 432818 432818 single base substitution G A upstream_gene_variant STAD-US 12 432830 432830 single base substitution G A exon_variant STAD-US 12 432830 432830 single base substitution G A missense_variant R315W 943C>T STAD-US 12 432830 432830 single base substitution G A missense_variant R696W 2086C>T STAD-US 12 432830 432830 single base substitution G A upstream_gene_variant STAD-US 12 438150 438150 single base substitution G A downstream_gene_variant STAD-US 12 438150 438150 single base substitution G A exon_variant STAD-US 12 438150 438150 single base substitution G A missense_variant R226C 676C>T STAD-US 12 438150 438150 single base substitution G A missense_variant R607C 1819C>T STAD-US 12 442691 442691 single base substitution T C exon_variant STAD-US 12 442691 442691 single base substitution T C missense_variant I158V 472A>G STAD-US 12 442691 442691 single base substitution T C missense_variant I539V 1615A>G STAD-US 12 442691 442691 single base substitution T C upstream_gene_variant STAD-US 12 443491 443491 single base substitution G T exon_variant STAD-US 12 443491 443491 single base substitution G T missense_variant P469Q 1406C>A STAD-US 12 443491 443491 single base substitution G T missense_variant P88Q 263C>A STAD-US 12 443551 443551 single base substitution G A missense_variant P449L 1346C>T STAD-US 12 443551 443551 single base substitution G A missense_variant P68L 203C>T STAD-US 12 443551 443551 single base substitution G A upstream_gene_variant STAD-US 12 461399 461399 single base substitution T C intron_variant STAD-US 12 461399 461399 single base substitution T C missense_variant K374R 1121A>G STAD-US 12 465688 465688 single base substitution C G intron_variant STAD-US 12 465688 465688 single base substitution C G missense_variant V230L 688G>C STAD-US 12 498207 498207 single base substitution T C synonymous_variant P17P 51A>G STAD-US 12 498207 498207 single base substitution T C upstream_gene_variant THCA-US 12 417066 417066 single base substitution T G downstream_gene_variant THCA-US 12 417066 417066 single base substitution T G missense_variant K1162Q 3484A>C THCA-US 12 417066 417066 single base substitution T G upstream_gene_variant UCEC-US 12 402268 402268 single base substitution C T missense_variant R1508Q 4523G>A UCEC-US 12 402268 402268 single base substitution C T upstream_gene_variant UCEC-US 12 402328 402328 single base substitution C A missense_variant S1488I 4463G>T UCEC-US 12 402328 402328 single base substitution C A upstream_gene_variant UCEC-US 12 404926 404926 single base substitution C T missense_variant S1423N 4268G>A UCEC-US 12 404926 404926 single base substitution C T upstream_gene_variant UCEC-US 12 406220 406220 single base substitution C A missense_variant K1407N 4221G>T UCEC-US 12 406220 406220 single base substitution C A upstream_gene_variant UCEC-US 12 419112 419112 single base substitution C T exon_variant UCEC-US 12 419112 419112 single base substitution C T missense_variant D1079N 3235G>A UCEC-US 12 419112 419112 single base substitution C T missense_variant D698N 2092G>A UCEC-US 12 419112 419112 single base substitution C T upstream_gene_variant UCEC-US 12 420176 420176 single base substitution G A exon_variant UCEC-US 12 420176 420176 single base substitution G A missense_variant R1031C 3091C>T UCEC-US 12 420176 420176 single base substitution G A missense_variant R650C 1948C>T UCEC-US 12 420176 420176 single base substitution G A upstream_gene_variant UCEC-US 12 422242 422242 single base substitution C T missense_variant A1006T 3016G>A UCEC-US 12 422242 422242 single base substitution C T missense_variant A625T 1873G>A UCEC-US 12 422242 422242 single base substitution C T upstream_gene_variant UCEC-US 12 422312 422312 single base substitution C A missense_variant K601N 1803G>T UCEC-US 12 422312 422312 single base substitution C A missense_variant K982N 2946G>T UCEC-US 12 422312 422312 single base substitution C A upstream_gene_variant UCEC-US 12 427348 427348 single base substitution C T downstream_gene_variant UCEC-US 12 427348 427348 single base substitution C T missense_variant A560T 1678G>A UCEC-US 12 427348 427348 single base substitution C T missense_variant A941T 2821G>A UCEC-US 12 427491 427491 single base substitution C T downstream_gene_variant UCEC-US 12 427491 427491 single base substitution C T missense_variant R512Q 1535G>A UCEC-US 12 427491 427491 single base substitution C T missense_variant R893Q 2678G>A UCEC-US 12 427507 427507 single base substitution G A downstream_gene_variant UCEC-US 12 427507 427507 single base substitution G A missense_variant L507F 1519C>T UCEC-US 12 427507 427507 single base substitution G A missense_variant L888F 2662C>T UCEC-US 12 430248 430248 single base substitution C A downstream_gene_variant UCEC-US 12 430248 430248 single base substitution C A synonymous_variant R437R 1311G>T UCEC-US 12 430248 430248 single base substitution C A synonymous_variant R818R 2454G>T UCEC-US 12 431630 431630 single base substitution G T downstream_gene_variant UCEC-US 12 431630 431630 single base substitution G T exon_variant UCEC-US 12 431630 431630 single base substitution G T synonymous_variant T412T 1236C>A UCEC-US 12 431630 431630 single base substitution G T synonymous_variant T793T 2379C>A UCEC-US 12 431664 431664 single base substitution C T downstream_gene_variant UCEC-US 12 431664 431664 single base substitution C T exon_variant UCEC-US 12 431664 431664 single base substitution C T missense_variant R401Q 1202G>A UCEC-US 12 431664 431664 single base substitution C T missense_variant R782Q 2345G>A UCEC-US 12 432362 432362 single base substitution G T downstream_gene_variant UCEC-US 12 432362 432362 single base substitution G T missense_variant P340T 1018C>A UCEC-US 12 432362 432362 single base substitution G T missense_variant P721T 2161C>A UCEC-US 12 432362 432362 single base substitution G T upstream_gene_variant UCEC-US 12 432830 432830 single base substitution G A exon_variant UCEC-US 12 432830 432830 single base substitution G A missense_variant R315W 943C>T UCEC-US 12 432830 432830 single base substitution G A missense_variant R696W 2086C>T UCEC-US 12 432830 432830 single base substitution G A upstream_gene_variant UCEC-US 12 432867 432867 single base substitution A G exon_variant UCEC-US 12 432867 432867 single base substitution A G synonymous_variant C302C 906T>C UCEC-US 12 432867 432867 single base substitution A G synonymous_variant C683C 2049T>C UCEC-US 12 432867 432867 single base substitution A G upstream_gene_variant UCEC-US 12 432894 432894 single base substitution C T exon_variant UCEC-US 12 432894 432894 single base substitution C T synonymous_variant R293R 879G>A UCEC-US 12 432894 432894 single base substitution C T synonymous_variant R674R 2022G>A UCEC-US 12 432894 432894 single base substitution C T upstream_gene_variant UCEC-US 12 432923 432925 deletion of <=200bp CTT - disruptive_inframe_deletion EV283V UCEC-US 12 432923 432925 deletion of <=200bp CTT - disruptive_inframe_deletion EV664V UCEC-US 12 432923 432925 deletion of <=200bp CTT - exon_variant UCEC-US 12 432923 432925 deletion of <=200bp CTT - upstream_gene_variant UCEC-US 12 438057 438057 single base substitution C A downstream_gene_variant UCEC-US 12 438057 438057 single base substitution C A exon_variant UCEC-US 12 438057 438057 single base substitution C A stop_gained E257* 769G>T UCEC-US 12 438057 438057 single base substitution C A stop_gained E638* 1912G>T UCEC-US 12 438086 438086 single base substitution T C downstream_gene_variant UCEC-US 12 438086 438086 single base substitution T C exon_variant UCEC-US 12 438086 438086 single base substitution T C missense_variant D247G 740A>G UCEC-US 12 438086 438086 single base substitution T C missense_variant D628G 1883A>G UCEC-US 12 438179 438179 single base substitution T G downstream_gene_variant UCEC-US 12 438179 438179 single base substitution T G exon_variant UCEC-US 12 438179 438179 single base substitution T G missense_variant Q216P 647A>C UCEC-US 12 438179 438179 single base substitution T G missense_variant Q597P 1790A>C UCEC-US 12 443422 443422 single base substitution A C exon_variant UCEC-US 12 443422 443422 single base substitution A C missense_variant I111S 332T>G UCEC-US 12 443422 443422 single base substitution A C missense_variant I492S 1475T>G UCEC-US 12 459827 459827 single base substitution G A intron_variant UCEC-US 12 459827 459827 single base substitution G A missense_variant P423L 1268C>T UCEC-US 12 461468 461468 single base substitution G A intron_variant UCEC-US 12 461468 461468 single base substitution G A missense_variant A351V 1052C>T UCEC-US 12 463287 463287 single base substitution A G intron_variant UCEC-US 12 463287 463287 single base substitution A G synonymous_variant P328P 984T>C UCEC-US 12 464343 464343 single base substitution C T intron_variant UCEC-US 12 464343 464343 single base substitution C T missense_variant G284D 851G>A UCEC-US 12 464398 464398 single base substitution G A intron_variant UCEC-US 12 464398 464398 single base substitution G A stop_gained R266* 796C>T UCEC-US 12 472156 472156 single base substitution C T downstream_gene_variant UCEC-US 12 472156 472156 single base substitution C T intron_variant UCEC-US 12 472156 472156 single base substitution C T synonymous_variant P215P 645G>A UCEC-US 12 493224 493224 single base substitution T G intron_variant UCEC-US 12 493224 493224 single base substitution T G missense_variant K113N 339A>C UCEC-US 12 493224 493224 single base substitution T G missense_variant K122N 366A>C UCEC-US 12 493224 493224 single base substitution T G missense_variant K94N 282A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-11-T COSM4453197 c.2636A>T p.D879V Substitution - Missense 12:318367-318367 - Pat_59_B COSM5840927 c.3637C>T p.P1213S Substitution - Missense 12:307747-307747 - 2492710 COSM287414 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - B15-Tumor COSM1746935 c.755C>T p.A252V Substitution - Missense 12:356455-356455 - TCGA-B5-A0JY-01 COSM123890 c.2345G>A p.R782Q Substitution - Missense 12:322498-322498 - T578 COSM939212 c.3091C>T p.R1031C Substitution - Missense 12:311010-311010 - SH-9161 COSM5020872 c.3519T>C p.F1173F Substitution - coding silent 12:307865-307865 - SH-102782 COSM5021084 c.4420C>A p.P1474T Substitution - Missense 12:295608-295608 - PTC-515C COSM4147041 c.1413C>T p.L471L Substitution - coding silent 12:334318-334318 - TCGA-B0-4845-01 COSM3359718 c.3265A>T p.R1089W Substitution - Missense 12:309916-309916 - TCGA-FS-A1ZS-06 COSM3871582 c.2155C>T p.R719C Substitution - Missense 12:323202-323202 - PT36 COSM5916229 c.1784G>A p.G595E Substitution - Missense 12:329019-329019 - TCGA-FS-A1Z3-06 COSM3460555 c.3631C>T p.L1211F Substitution - Missense 12:307753-307753 - NB02C COSM1236244 c.1810C>T p.R604C Substitution - Missense 12:328993-328993 - TCGA-Q1-A73O-01 COSM4836250 c.3283G>A p.E1095K Substitution - Missense 12:309898-309898 - TCGA-D1-A103-01 COSM939246 c.2821G>A p.A941T Substitution - Missense 12:318182-318182 - TCGA-66-2778-01 COSM693863 c.498C>G p.L166L Substitution - coding silent 12:365973-365973 - TCGA-EM-A3FL-01 COSM3368796 c.3484A>C p.K1162Q Substitution - Missense 12:307900-307900 - TCGA-GL-8500-01 COSM3986890 c.4843T>C p.C1615R Substitution - Missense 12:292782-292782 - ME011T COSM224416 c.4351G>A p.V1451I Substitution - Missense 12:295677-295677 - OSCC-GB_00240111 COSM3710747 c.3044G>T p.S1015I Substitution - Missense 12:311057-311057 - TCGA-FW-A3R5-06 COSM3871534 c.4298G>A p.R1433Q Substitution - Missense 12:295745-295745 - 587228 COSM939275 c.2086C>T p.R696W Substitution - Missense 12:323664-323664 - B109-Tumor COSM1756776 c.2233C>T p.R745C Substitution - Missense 12:323124-323124 - TCGA-GL-8500-01 COSM3986891 c.4858T>C p.C1620R Substitution - Missense 12:292782-292782 - S02289 COSM5685937 c.2151-16_2151-3delTTTTTTTTTTTTGT p.? Unknown 12:323209-323222 - TCGA-BT-A20N-01 COSM415871 c.3697C>T p.L1233F Substitution - Missense 12:307687-307687 - CSCC-27-T COSM4479602 c.2340C>T p.L780L Substitution - coding silent 12:322503-322503 - S02348 COSM4382859 c.5C>G p.A2G Substitution - Missense 12:389087-389087 - TCGA-51-4081-01 COSM693163 c.3721C>T p.P1241S Substitution - Missense 12:307663-307663 - TCGA-FS-A1Z3-06 COSM3460554 c.3631C>T p.L1211F Substitution - Missense 12:307753-307753 - LP6005409-DNA_F03 COSM5033358 c.4133A>C p.E1378A Substitution - Missense 12:297142-297142 - TCGA-AR-A0U2-01 COSM431138 c.735G>A p.G245G Substitution - coding silent 12:356475-356475 - B65-Tumor COSM1756777 c.1999G>C p.E667Q Substitution - Missense 12:323751-323751 - Pat_24_B COSM5840942 c.2677C>T p.R893* Substitution - Nonsense 12:318326-318326 - 587376 COSM1211764 c.4758A>C p.K1586N Substitution - Missense 12:292867-292867 - 2318491 COSM4776604 c.3362G>C p.R1121T Substitution - Missense 12:309819-309819 - TCGA-BR-8363-01 COSM1211760 c.1406C>A p.P469Q Substitution - Missense 12:334325-334325 - NPC6F COSM4995123 c.3914C>A p.A1305D Substitution - Missense 12:307470-307470 - TCGA-ER-A19O-06 COSM3460458 c.4259C>T p.P1420L Substitution - Missense 12:295769-295769 - C391 COSM4441611 c.4262C>A p.P1421Q Substitution - Missense 12:295781-295781 - 2492720 COSM5721868 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - TCGA-BR-8680-01 COSM4041795 c.2139G>T p.K713N Substitution - Missense 12:323611-323611 - I2L-P7-Tumor-Organoid COSM5361915 c.3092G>A p.R1031H Substitution - Missense 12:311009-311009 - 2492723 COSM5721869 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - pfg181T COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-A8-A076-01 COSM5198874 c.2274_2275insA p.D759fs*4 Insertion - Frameshift 12:323082-323083 - TCGA-AG-A002-01 COSM289707 c.3715C>T p.R1239W Substitution - Missense 12:307669-307669 - Pat_41_B COSM5841004 c.1000G>A p.D334N Substitution - Missense 12:354105-354105 - TCGA-66-2778-01 COSM693862 c.498C>G p.L166L Substitution - coding silent 12:365973-365973 - TCGA-D1-A103-01 COSM939245 c.2821G>A p.A941T Substitution - Missense 12:318182-318182 - S00472 COSM312106 c.3693A>G p.V1231V Substitution - coding silent 12:307691-307691 - PD9381a COSM5945237 c.2491C>T p.Q831* Substitution - Nonsense 12:321045-321045 - TCGA-C5-A2LX-01 COSM4827333 c.445C>G p.L149V Substitution - Missense 12:366026-366026 - B52 COSM1756774 c.4362G>A p.M1454I Substitution - Missense 12:295681-295681 - SNU-175 COSM2068209 c.659G>A p.R220H Substitution - Missense 12:362976-362976 - HCC093T COSM5810807 c.30G>T p.A10A Substitution - coding silent 12:389062-389062 - SNUH_G76_S1 COSM4418535 c.1023C>G p.V341V Substitution - coding silent 12:354082-354082 - 7 COSM548236 c.3649C>T p.R1217W Substitution - Missense 12:307735-307735 - STC252 COSM5051574 c.4380C>T p.D1460D Substitution - coding silent 12:295648-295648 - TCGA-D5-6928-01 COSM1361089 c.4170G>A p.M1390I Substitution - Missense 12:297105-297105 - pfg212T COSM4765535 c.3598_3599insA p.G1200fs*7 Insertion - Frameshift 12:307785-307786 - U251 COSM1676616 c.3365A>G p.D1122G Substitution - Missense 12:309816-309816 - T3021 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - CSCC-31-T COSM4482601 c.2623C>T p.Q875* Substitution - Nonsense 12:318380-318380 - ESO-139 COSM939483 c.1268C>T p.P423L Substitution - Missense 12:350661-350661 - TCGA-DG-A2KL-01 COSM4851571 c.3845G>A p.R1282H Substitution - Missense 12:307539-307539 - C391 COSM4441610 c.4247C>A p.P1416Q Substitution - Missense 12:295781-295781 - TCGA-BR-8363-01 COSM1211761 c.1406C>A p.P469Q Substitution - Missense 12:334325-334325 - S00472 COSM312105 c.3693A>G p.V1231V Substitution - coding silent 12:307691-307691 - TCGA-AP-A051-01 COSM939211 c.3091C>T p.R1031C Substitution - Missense 12:311010-311010 - TCGA-66-2757-01 COSM693233 c.4208C>T p.S1403F Substitution - Missense 12:297067-297067 - RK002_C01 COSM1628575 c.4380C>A p.D1460E Substitution - Missense 12:295648-295648 - TCGA-G9-6371-01 COSM1128596 c.3515G>T p.G1172V Substitution - Missense 12:307869-307869 - ESO-081 COSM1243336 c.820G>A p.A274T Substitution - Missense 12:355208-355208 - TCGA-CG-4442-01 COSM4041875 c.1615A>G p.I539V Substitution - Missense 12:333525-333525 - LP6007508-DNA_A01 COSM5951947 c.2783C>G p.S928C Substitution - Missense 12:318220-318220 - TCGA-AA-3966-01 COSM272846 c.4946A>T p.E1649V Substitution - Missense 12:285583-285583 - TCGA-G9-6371-01 COSM1128597 c.3515G>T p.G1172V Substitution - Missense 12:307869-307869 - PCSI_0185_Pa_P COSM3376237 c.4577A>C p.E1526A Substitution - Missense 12:293048-293048 - TCGA-EB-A431-01 COSM3871581 c.2155C>T p.R719C Substitution - Missense 12:323202-323202 - TCGA-FS-A1ZS-06 COSM3871581 c.2155C>T p.R719C Substitution - Missense 12:323202-323202 - HT115 COSM2068398 c.491G>T p.R164I Substitution - Missense 12:365980-365980 - CSCC-27-T COSM4479601 c.2340C>T p.L780L Substitution - coding silent 12:322503-322503 - TCGA-ER-A19O-06 COSM3460459 c.4274C>T p.P1425L Substitution - Missense 12:295769-295769 - CSCC-38-T COSM4446293 c.2541+3G>A p.? Unknown 12:320992-320992 - S00050 COSM5657061 c.5074A>G p.K1692E Substitution - Missense 12:285551-285551 - TCGA-AC-A2FG-01 COSM3811944 c.4098T>C p.S1366S Substitution - coding silent 12:297177-297177 - TCGA-AX-A05Z-01 COSM939247 c.2678G>A p.R893Q Substitution - Missense 12:318325-318325 - TCGA-AG-A002-01 COSM261531 c.713A>C p.K238T Substitution - Missense 12:356497-356497 - PD4120a COSM161883 c.1303G>A p.E435K Substitution - Missense 12:350626-350626 - TCGA-B0-4845-01 COSM3359719 c.3265A>T p.R1089W Substitution - Missense 12:309916-309916 - TCGA-BR-8589-01 COSM4041978 c.1121A>G p.K374R Substitution - Missense 12:352233-352233 - TCGA-DY-A1DC-01 COSM1562159 c.4211C>A p.S1404Y Substitution - Missense 12:297064-297064 - TCGA-AG-A002-01 COSM261530 c.1456G>A p.D486N Substitution - Missense 12:334275-334275 - TCGA-BR-7851-01 COSM4041797 c.2098C>T p.L700F Substitution - Missense 12:323652-323652 - CSCC-7-T COSM2066862 c.1835C>T p.S612L Substitution - Missense 12:328968-328968 - SW620 COSM1676617 c.920A>C p.K307T Substitution - Missense 12:354185-354185 - 19 COSM5747351 c.3029C>T p.A1010V Substitution - Missense 12:313063-313063 - LP6005690-DNA_C01 COSM1236244 c.1810C>T p.R604C Substitution - Missense 12:328993-328993 - TCGA-AG-A002-01 COSM289706 c.3715C>T p.R1239W Substitution - Missense 12:307669-307669 - S00050 COSM5657060 c.4978A>G p.K1660E Substitution - Missense 12:285551-285551 - T2269 COSM4694987 c.4682G>T p.R1561I Substitution - Missense 12:292943-292943 - PD8270a COSM1166673 c.965G>A p.C322Y Substitution - Missense 12:354140-354140 - 7 COSM548235 c.3649C>T p.R1217W Substitution - Missense 12:307735-307735 - PT49 COSM5935886 c.4853C>T p.P1618L Substitution - Missense 12:292772-292772 - TCGA-BR-8680-01 COSM261527 c.2473G>T p.E825* Substitution - Nonsense 12:321063-321063 - PD8501a COSM5944616 c.4124_4125insT p.D1376fs*1 Insertion - Frameshift 12:297150-297151 - 2492722 COSM5721868 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - 587342 COSM1211762 c.541G>A p.V181M Substitution - Missense 12:363094-363094 - SNU-175 COSM2068210 c.659G>A p.R220H Substitution - Missense 12:362976-362976 - PD9300a COSM5945233 c.3044G>A p.S1015N Substitution - Missense 12:311057-311057 - TCGA-AZ-4315-01 COSM1361193 c.1808G>A p.R603Q Substitution - Missense 12:328995-328995 - TCGA-AP-A059-01 COSM939249 c.2662C>T p.L888F Substitution - Missense 12:318341-318341 - TCGA-A8-A0A6-01 COSM3811941 c.4422A>C p.P1474P Substitution - coding silent 12:295606-295606 - TCGA-CA-6717-01 COSM1361192 c.1943G>A p.R648Q Substitution - Missense 12:328860-328860 - T3503 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-A6-6780-01 COSM1361135 c.3982G>A p.V1328M Substitution - Missense 12:307038-307038 - CCK81 COSM2066501 c.3123G>A p.P1041P Substitution - coding silent 12:310978-310978 - S00472 COSM312105 c.3693A>G p.V1231V Substitution - coding silent 12:307691-307691 - TCGA-CG-5723-01 COSM4041705 c.3758C>T p.A1253V Substitution - Missense 12:307626-307626 - S00339 COSM5657308 c.1133T>A p.F378Y Substitution - Missense 12:352221-352221 - S02289 COSM5685936 c.2151-16_2151-3delTTTTTTTTTTTTGT p.? Unknown 12:323209-323222 - S02344 COSM5693359 c.1507T>C p.W503R Substitution - Missense 12:333633-333633 - PCSI_0185_Pa_P COSM3376238 c.4592A>C p.E1531A Substitution - Missense 12:293048-293048 - CRC-12T COSM5480718 c.165+5C>T p.? Unknown 12:388922-388922 - TCGA-33-4532-01 COSM693912 c.1076G>T p.R359L Substitution - Missense 12:352278-352278 - TCGA-FR-A3YN-06 COSM3460673 c.2315A>C p.D772A Substitution - Missense 12:322528-322528 - HCC2998 COSM1676613 c.4484A>C p.K1495T Substitution - Missense 12:293141-293141 - Pat_66_A COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - HT115 COSM2067961 c.1024G>A p.A342T Substitution - Missense 12:354081-354081 - PD5737a COSM4385661 c.3363_3364insAGA p.R1121_D1122insR Insertion - In frame 12:309817-309818 - AOCS-064-3-3 COSM4150076 c.3250G>A p.G1084R Substitution - Missense 12:309931-309931 - TCGA-CG-5723-01 COSM4041877 c.1346C>T p.P449L Substitution - Missense 12:334385-334385 - LUAD-E00934 COSM403342 c.3660G>T p.R1220S Substitution - Missense 12:307724-307724 - SJMB104 COSM255250 c.4455+6G>T p.? Unknown 12:295567-295567 - ME009T COSM223511 c.4148C>T p.S1383F Substitution - Missense 12:297127-297127 - Pat_26_A COSM5841008 c.737_755del19 p.P246fs*28 Deletion - Frameshift 12:356455-356473 - TCGA-BQ-5875-01 COSM3986896 c.4259C>G p.P1420R Substitution - Missense 12:295769-295769 - PD3189a COSM1659001 c.2928C>A p.S976R Substitution - Missense 12:313164-313164 - 8069321 COSM3772614 c.2045C>T p.T682I Substitution - Missense 12:323705-323705 - B52-Tumor COSM1756773 c.4347G>A p.M1449I Substitution - Missense 12:295681-295681 - LUAD-RT-S01703 COSM379580 c.1864G>T p.A622S Substitution - Missense 12:328939-328939 - PD9205a COSM5945229 c.3930+2C>T p.? Unknown 12:307452-307452 - TCGA-D7-A4YY-01 COSM4041817 c.1819C>T p.R607C Substitution - Missense 12:328984-328984 - T2940 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-D1-A0ZO-01 COSM939273 c.2161C>A p.P721T Substitution - Missense 12:323196-323196 - J54_T COSM3954723 c.3497G>A p.C1166Y Substitution - Missense 12:307887-307887 - 2275_T COSM3954744 c.2293G>A p.V765I Substitution - Missense 12:322550-322550 - 761 COSM145542 c.2758G>T p.D920Y Substitution - Missense 12:318245-318245 - TCGA-D1-A167-01 COSM939483 c.1268C>T p.P423L Substitution - Missense 12:350661-350661 - TCGA-76-4934-01 COSM3398705 c.3571C>T p.L1191F Substitution - Missense 12:307813-307813 - BD121T COSM4851571 c.3845G>A p.R1282H Substitution - Missense 12:307539-307539 - TCGA-DG-A2KL-01 COSM4851572 c.3845G>A p.R1282H Substitution - Missense 12:307539-307539 - HCT8 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-HU-A4GU-01 COSM4041772 c.2682G>A p.L894L Substitution - coding silent 12:318321-318321 - TCGA-B5-A0JY-01 COSM939934 c.339A>C p.K113N Substitution - Missense 12:384058-384058 - 587342 COSM1211763 c.541G>A p.V181M Substitution - Missense 12:363094-363094 - LP6005409-DNA_E02 COSM4411541 c.4807T>G p.S1603A Substitution - Missense 12:292833-292833 - DN11135 COSM5960569 c.879C>T p.L293L Substitution - coding silent 12:354226-354226 - TCGA-AP-A0LM-01 COSM939215 c.3016G>A p.A1006T Substitution - Missense 12:313076-313076 - HRA19 COSM4637679 c.3360C>T p.T1120T Substitution - coding silent 12:309821-309821 - TCGA-BS-A0U8-01 COSM939214 c.3041G>A p.G1014D Substitution - Missense 12:311060-311060 - TCGA-AN-A046-01 COSM3812053 c.791G>A p.R264Q Substitution - Missense 12:355237-355237 - TCGA-EE-A2A2-06 COSM3460999 c.1027G>A p.E343K Substitution - Missense 12:354078-354078 - T3535 COSM2066717 c.2511G>A p.P837P Substitution - coding silent 12:321025-321025 - TCGA-BT-A3PK-01 COSM3792582 c.2355G>A p.R785R Substitution - coding silent 12:322488-322488 - BD236T COSM230693 c.3781C>T p.R1261W Substitution - Missense 12:307603-307603 - SH-4435 COSM5020163 c.3197C>G p.S1066C Substitution - Missense 12:310904-310904 - TCGA-AZ-4315-01 COSM1361194 c.1808G>A p.R603Q Substitution - Missense 12:328995-328995 - CSCC-38-T COSM4487791 c.322C>T p.P108S Substitution - Missense 12:384075-384075 - TCGA-D8-A1XQ-01 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - HCC2998 COSM1676614 c.4499A>C p.K1500T Substitution - Missense 12:293141-293141 - TCGA-AX-A05Z-01 COSM939248 c.2678G>A p.R893Q Substitution - Missense 12:318325-318325 - TCGA-AG-A002-01 COSM261527 c.2473G>T p.E825* Substitution - Nonsense 12:321063-321063 - SC_9094 COSM5567405 c.4267A>T p.S1423C Substitution - Missense 12:295761-295761 - pfg212T COSM4765534 c.3598_3599insA p.G1200fs*7 Insertion - Frameshift 12:307785-307786 - PD4203a COSM161885 c.551C>T p.P184L Substitution - Missense 12:363084-363084 - TCGA-D5-6541-01 COSM1360987 c.4944T>A p.A1648A Substitution - coding silent 12:285585-285585 - SJHYPO042 COSM4775691 c.2427-6C>T p.? Unknown 12:321115-321115 - LIM1899 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - 25T COSM3710744 c.3061G>T p.E1021* Substitution - Nonsense 12:311040-311040 - 2492723 COSM5721868 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - NB-1659 COSM1285701 c.3083C>T p.A1028V Substitution - Missense 12:311018-311018 - TCGA-AA-A029-01 COSM287414 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - TCGA-51-4081-01 COSM693164 c.3721C>T p.P1241S Substitution - Missense 12:307663-307663 - PD4113a COSM166089 c.95delC p.P32fs*34 Deletion - Frameshift 12:388997-388997 - TCGA-30-1718-01 COSM1322569 c.4357C>T p.L1453F Substitution - Missense 12:295686-295686 - C0081T COSM4152815 c.2897+3G>A p.? Unknown 12:318103-318103 - T2269 COSM4694990 c.4265G>A p.R1422K Substitution - Missense 12:295778-295778 - I2L-P7-Tumor-Organoid COSM4613323 c.3276delA p.V1093fs*1 Deletion - Frameshift 12:309905-309905 - H650 COSM1194640 c.1917G>T p.L639F Substitution - Missense 12:328886-328886 - U251 COSM1676615 c.3365A>G p.D1122G Substitution - Missense 12:309816-309816 - TCGA-EE-A17X-06 COSM3460552 c.3711C>T p.P1237P Substitution - coding silent 12:307673-307673 - TCGA-AX-A05S-01 COSM939274 c.2086C>T p.R696W Substitution - Missense 12:323664-323664 - C32 COSM4618993 c.2145T>C p.C715C Substitution - coding silent 12:323605-323605 - TCGA-66-2757-01 COSM693234 c.4208C>T p.S1403F Substitution - Missense 12:297067-297067 - pfg008T COSM1639127 c.2034A>G p.A678A Substitution - coding silent 12:323716-323716 - CSCC-27-T COSM4475258 c.1974C>T p.V658V Substitution - coding silent 12:323776-323776 - TCGA-EK-A2PG-01 COSM4819236 c.674C>G p.S225* Substitution - Nonsense 12:356536-356536 - TCGA-AX-A0J1-01 COSM939002 c.4463G>T p.S1488I Substitution - Missense 12:293162-293162 - TCGA-AP-A056-01 COSM939276 c.2049T>C p.C683C Substitution - coding silent 12:323701-323701 - AOCS-064-3-3 COSM4150075 c.3250G>A p.G1084R Substitution - Missense 12:309931-309931 - PD6079a COSM4384662 c.970A>G p.I324V Substitution - Missense 12:354135-354135 - T90 COSM240329 c.2033_2044del12 p.R680_C683delRTTC Deletion - In frame 12:323706-323717 - 761 COSM145541 c.2758G>T p.D920Y Substitution - Missense 12:318245-318245 - TCGA-C5-A2LX-01 COSM4827334 c.445C>G p.L149V Substitution - Missense 12:366026-366026 - TCGA-76-6661-01 COSM3398695 c.4634T>G p.L1545* Substitution - Nonsense 12:293006-293006 - TCGA-AX-A05Z-01 COSM939014 c.4221G>T p.K1407N Substitution - Missense 12:297054-297054 - ME050T COSM230693 c.3781C>T p.R1261W Substitution - Missense 12:307603-307603 - TCGA-AP-A054-01 COSM939384 c.1475T>G p.I492S Substitution - Missense 12:334256-334256 - TARGET-30-PARDYU COSM1285705 c.5121C>A p.F1707L Substitution - Missense 12:285504-285504 - S02376 COSM5696908 c.3807A>G p.L1269L Substitution - coding silent 12:307577-307577 - sysucc-1062T COSM5763413 c.3416A>G p.E1139G Substitution - Missense 12:307968-307968 - Au3 COSM5601680 c.2104C>T p.H702Y Substitution - Missense 12:323646-323646 - TCGA-AP-A0LM-01 COSM939553 c.851G>A p.G284D Substitution - Missense 12:355177-355177 - TCGA-BR-4362-01 COSM4041747 c.3122C>T p.P1041L Substitution - Missense 12:310979-310979 - 2011-2282:2012-1330-T COSM4604330 c.1413C>G p.L471L Substitution - coding silent 12:334318-334318 - PT49 COSM5935887 c.4868C>T p.P1623L Substitution - Missense 12:292772-292772 - SNU-175 COSM2067306 c.1406C>T p.P469L Substitution - Missense 12:334325-334325 - TCGA-CG-4443-01 COSM4042018 c.688G>C p.V230L Substitution - Missense 12:356522-356522 - PD7929a COSM5361915 c.3092G>A p.R1031H Substitution - Missense 12:311009-311009 - TCGA-29-1694-01 COSM1322556 c.1963C>G p.Q655E Substitution - Missense 12:328840-328840 - PD6958a COSM4384654 c.3442A>G p.N1148D Substitution - Missense 12:307942-307942 - TCGA-AM-5820-01 COSM3688201 c.2087G>A p.R696Q Substitution - Missense 12:323663-323663 - 407 COSM4430280 c.672+3A>G p.? Unknown 12:362960-362960 - TCGA-B0-5094-01 COSM468356 c.1609G>A p.V537I Substitution - Missense 12:333531-333531 - TCGA-Q1-A73O-01 COSM4834737 c.3222G>A p.L1074L Substitution - coding silent 12:309959-309959 - TCGA-18-3409-01 COSM693858 c.402C>A p.T134T Substitution - coding silent 12:366069-366069 - TCGA-AR-A0U2-01 COSM431137 c.735G>A p.G245G Substitution - coding silent 12:356475-356475 - ESCC_151 COSM5645136 c.3554A>T p.H1185L Substitution - Missense 12:307830-307830 - TCGA-A6-6653-01 COSM1361140 c.3601T>C p.S1201P Substitution - Missense 12:307783-307783 - PD10917a COSM5945247 c.1329G>A p.W443* Substitution - Nonsense 12:334402-334402 - TCGA-D1-A103-01 COSM939608 c.645G>A p.P215P Substitution - coding silent 12:362990-362990 - L18 COSM5369314 c.1768G>C p.D590H Substitution - Missense 12:331824-331824 - ME011T COSM224415 c.4366G>A p.V1456I Substitution - Missense 12:295677-295677 - SNU-175 COSM2067307 c.1406C>T p.P469L Substitution - Missense 12:334325-334325 - TCGA-BT-A20N-01 COSM415870 c.3697C>T p.L1233F Substitution - Missense 12:307687-307687 - NB-1977 COSM1285702 c.3219G>T p.V1073V Substitution - coding silent 12:309962-309962 - AOCS-084-1-X COSM4150053 c.4154A>C p.E1385A Substitution - Missense 12:297121-297121 - TCGA-EM-A3FL-01 COSM3368797 c.3484A>C p.K1162Q Substitution - Missense 12:307900-307900 - SH-7282 COSM5020672 c.2423A>T p.H808L Substitution - Missense 12:322420-322420 - TCGA-34-5236-01 COSM693244 c.4833A>C p.A1611A Substitution - coding silent 12:292792-292792 - TCGA-EE-A17X-06 COSM3460553 c.3711C>T p.P1237P Substitution - coding silent 12:307673-307673 - 23T COSM3710753 c.1308G>T p.E436D Substitution - Missense 12:350621-350621 - TCGA-BR-8059-01 COSM939274 c.2086C>T p.R696W Substitution - Missense 12:323664-323664 - NB-1659 COSM1285700 c.3083C>T p.A1028V Substitution - Missense 12:311018-311018 - LIM2405 COSM4613324 c.3276delA p.V1093fs*1 Deletion - Frameshift 12:309905-309905 - TCGA-D9-A6EC-06 COSM4401898 c.2287T>G p.L763V Substitution - Missense 12:322556-322556 - GC8_T COSM147387 c.3747G>A p.L1249L Substitution - coding silent 12:307637-307637 - LP6005409-DNA_F03 COSM5033357 c.4133A>C p.E1378A Substitution - Missense 12:297142-297142 - SNU-175 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - PD5782a COSM4384657 c.2225G>T p.W742L Substitution - Missense 12:323132-323132 - SH-9161 COSM5020871 c.3519T>C p.F1173F Substitution - coding silent 12:307865-307865 - TCGA-Q1-A73O-01 COSM4834736 c.3222G>A p.L1074L Substitution - coding silent 12:309959-309959 - B52 COSM1756773 c.4347G>A p.M1449I Substitution - Missense 12:295681-295681 - TCGA-AA-A010-01 COSM282120 c.4604A>T p.K1535M Substitution - Missense 12:293021-293021 - TCGA-BP-4981-01 COSM468359 c.1578T>C p.F526F Substitution - coding silent 12:333562-333562 - TCGA-B5-A11N-01 COSM939248 c.2678G>A p.R893Q Substitution - Missense 12:318325-318325 - TCGA-CG-5721-01 COSM4041708 c.3561C>T p.S1187S Substitution - coding silent 12:307823-307823 - TCGA-30-1718-01 COSM1322568 c.4342C>T p.L1448F Substitution - Missense 12:295686-295686 - Pat_40_B COSM3812002 c.2020C>T p.R674W Substitution - Missense 12:323730-323730 - TCGA-AP-A051-01 COSM939492 c.1052C>T p.A351V Substitution - Missense 12:352302-352302 - ESCC_151 COSM5645135 c.3554A>T p.H1185L Substitution - Missense 12:307830-307830 - TCGA-AX-A0J0-01 COSM939295 c.1912G>T p.E638* Substitution - Nonsense 12:328891-328891 - TCGA-AP-A056-01 COSM939277 c.2049T>C p.C683C Substitution - coding silent 12:323701-323701 - 587238 COSM1211759 c.4537C>T p.R1513W Substitution - Missense 12:293103-293103 - B15-Tumor COSM1746936 c.755C>T p.A252V Substitution - Missense 12:356455-356455 - PT36 COSM5916231 c.3100C>T p.P1034S Substitution - Missense 12:311001-311001 - TCGA-BR-4362-01 COSM4041748 c.3122C>T p.P1041L Substitution - Missense 12:310979-310979 - ID51 COSM1166672 c.965G>A p.C322Y Substitution - Missense 12:354140-354140 - TCGA-C5-A1MH-01 COSM4821111 c.2344C>T p.R782* Substitution - Nonsense 12:322499-322499 - TCGA-EB-A431-01 COSM3871582 c.2155C>T p.R719C Substitution - Missense 12:323202-323202 - PD3189a COSM1659000 c.2928C>A p.S976R Substitution - Missense 12:313164-313164 - TCGA-EA-A3HR-01 COSM4843279 c.991C>A p.P331T Substitution - Missense 12:354114-354114 - PD5782a COSM4384658 c.2225G>T p.W742L Substitution - Missense 12:323132-323132 - 587228 COSM939274 c.2086C>T p.R696W Substitution - Missense 12:323664-323664 - TCGA-EE-A2MK-06 COSM3460557 c.3602C>T p.S1201F Substitution - Missense 12:307782-307782 - TCGA-AX-A05Z-01 COSM939013 c.4221G>T p.K1407N Substitution - Missense 12:297054-297054 - OSCC-GB_00240111 COSM3710746 c.3044G>T p.S1015I Substitution - Missense 12:311057-311057 - S02376 COSM5696909 c.3807A>G p.L1269L Substitution - coding silent 12:307577-307577 - 19 COSM5747350 c.3029C>T p.A1010V Substitution - Missense 12:313063-313063 - PD7010a COSM939211 c.3091C>T p.R1031C Substitution - Missense 12:311010-311010 - J54_T COSM3954722 c.3497G>A p.C1166Y Substitution - Missense 12:307887-307887 - TCGA-AN-A0FL-01 COSM431085 c.2815G>C p.E939Q Substitution - Missense 12:318188-318188 - OSCC-GB_00230111 COSM3710752 c.1308G>T p.E436D Substitution - Missense 12:350621-350621 - S00339 COSM5657307 c.1133T>A p.F378Y Substitution - Missense 12:352221-352221 - TCGA-EE-A2MJ-06 COSM3461473 c.342C>T p.I114I Substitution - coding silent 12:384055-384055 - CSCC-44-T COSM4446292 c.4075-3C>T p.? Unknown 12:297203-297203 - HCC2998 COSM1676613 c.4484A>C p.K1495T Substitution - Missense 12:293141-293141 - RK216_C01 COSM3739656 c.2776A>G p.I926V Substitution - Missense 12:318227-318227 - TCGA-D9-A6EC-06 COSM4401899 c.2287T>G p.L763V Substitution - Missense 12:322556-322556 - TCGA-A5-A0GI-01 COSM939001 c.4538G>A p.R1513Q Substitution - Missense 12:293102-293102 - 35M COSM5581452 c.3002C>T p.A1001V Substitution - Missense 12:313090-313090 - CSCC-60-T COSM4536185 c.2275G>A p.D759N Substitution - Missense 12:323082-323082 - 193T COSM1726485 c.3254G>A p.S1085N Substitution - Missense 12:309927-309927 - TCGA-CD-8534-01 COSM4041773 c.2564A>T p.E855V Substitution - Missense 12:318439-318439 - CRC-12T COSM5480719 c.165+5C>T p.? Unknown 12:388922-388922 - Gp2D COSM4627078 c.3048T>C p.N1016N Substitution - coding silent 12:311053-311053 - TCGA-AN-A0AR-01 COSM431192 c.349C>A p.L117M Substitution - Missense 12:384048-384048 - TCGA-B5-A0JY-01 COSM939933 c.339A>C p.K113N Substitution - Missense 12:384058-384058 - B109-Tumor COSM1756775 c.2233C>T p.R745C Substitution - Missense 12:323124-323124 - LUAD-YINHD COSM348658 c.2908A>T p.S970C Substitution - Missense 12:313184-313184 - 2492710 COSM287413 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - PD6206a COSM4384656 c.2333A>G p.N778S Substitution - Missense 12:322510-322510 - PD4959a COSM5778329 c.3840C>T p.S1280S Substitution - coding silent 12:307544-307544 - H358 COSM1193974 c.3786G>T p.Q1262H Substitution - Missense 12:307598-307598 - ME050T COSM230694 c.3781C>T p.R1261W Substitution - Missense 12:307603-307603 - TCGA-BQ-5890-01 COSM3986937 c.671A>G p.Q224R Substitution - Missense 12:362964-362964 - TCGA-AN-A046-01 COSM3812001 c.2020C>T p.R674W Substitution - Missense 12:323730-323730 - TCGA-D1-A16J-01 COSM693863 c.498C>G p.L166L Substitution - coding silent 12:365973-365973 - T578 COSM939211 c.3091C>T p.R1031C Substitution - Missense 12:311010-311010 - 2492708 COSM287414 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - SC_9094 COSM5567406 c.4282A>T p.S1428C Substitution - Missense 12:295761-295761 - PD6509a COSM4384660 c.1370C>T p.A457V Substitution - Missense 12:334361-334361 - LIM1899 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-AP-A059-01 COSM939297 c.1883A>G p.D628G Substitution - Missense 12:328920-328920 - OSCC-GB_00230111 COSM3710753 c.1308G>T p.E436D Substitution - Missense 12:350621-350621 - Pat_26_A COSM5841009 c.737_755del19 p.P246fs*28 Deletion - Frameshift 12:356455-356473 - TCGA-46-3769-01 COSM693123 c.2775G>C p.L925L Substitution - coding silent 12:318228-318228 - TARGET-30-PARKAG COSM1236244 c.1810C>T p.R604C Substitution - Missense 12:328993-328993 - TCGA-G2-A3VY-01 COSM3792591 c.1583C>G p.S528C Substitution - Missense 12:333557-333557 - C0092T COSM4152825 c.774A>T p.K258N Substitution - Missense 12:356436-356436 - C0081T COSM4152814 c.2897+3G>A p.? Unknown 12:318103-318103 - TCGA-AA-3715-01 COSM269426 c.3766T>C p.W1256R Substitution - Missense 12:307618-307618 - 2011-2366:2012-1295-T COSM4604610 c.1930G>A p.E644K Substitution - Missense 12:328873-328873 - CSCC-29-T COSM4449079 c.166-1G>A p.? Unknown 12:385975-385975 - ESO-081 COSM1243335 c.820G>A p.A274T Substitution - Missense 12:355208-355208 - ME009T COSM223510 c.4148C>T p.S1383F Substitution - Missense 12:297127-297127 - HCT15 COSM2065406 c.4695G>A p.K1565K Substitution - coding silent 12:292930-292930 - S00472 COSM312106 c.3693A>G p.V1231V Substitution - coding silent 12:307691-307691 - PTC-515C COSM4147042 c.1413C>T p.L471L Substitution - coding silent 12:334318-334318 - sysucc-311T COSM5478236 c.3999A>G p.R1333R Substitution - coding silent 12:307021-307021 - SJMB104 COSM255249 c.4470+6G>T p.? Unknown 12:295567-295567 - SH-102782 COSM5021085 c.4435C>A p.P1479T Substitution - Missense 12:295608-295608 - LIM2405 COSM4613321 c.4421delT p.L1474fs*26 Deletion - Frameshift 12:295622-295622 - pfg016T COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - B105-1 COSM1746933 c.881A>T p.Y294F Substitution - Missense 12:354224-354224 - TCGA-DC-5869-01 COSM1562151 c.1902G>A p.M634I Substitution - Missense 12:328901-328901 - 761-01-1TD COSM145542 c.2758G>T p.D920Y Substitution - Missense 12:318245-318245 - T90 COSM240330 c.2033_2044del12 p.R680_C683delRTTC Deletion - In frame 12:323706-323717 - TCGA-BR-8680-01 COSM261528 c.2473G>T p.E825* Substitution - Nonsense 12:321063-321063 - TCGA-AA-A010-01 COSM282119 c.4619A>T p.K1540M Substitution - Missense 12:293021-293021 - TCGA-FW-A3R5-06 COSM3871533 c.4283G>A p.R1428Q Substitution - Missense 12:295745-295745 - TCGA-HU-A4G9-01 COSM4041763 c.2715C>T p.D905D Substitution - coding silent 12:318288-318288 - T36 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-EA-A3HR-01 COSM4843280 c.991C>A p.P331T Substitution - Missense 12:354114-354114 - B65-Tumor COSM1756778 c.1999G>C p.E667Q Substitution - Missense 12:323751-323751 - OSCC-GB_00250111 COSM3710745 c.3061G>T p.E1021* Substitution - Nonsense 12:311040-311040 - SNU-C4 COSM4615514 c.3597_3598insA p.G1200fs*7 Insertion - Frameshift 12:307786-307787 - HT115 COSM2066293 c.4048C>T p.R1350* Substitution - Nonsense 12:306972-306972 - CSCC-27-T COSM4475257 c.1974C>T p.V658V Substitution - coding silent 12:323776-323776 - TCGA-CG-5723-01 COSM4041706 c.3758C>T p.A1253V Substitution - Missense 12:307626-307626 - KM12 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - HOP-92 COSM1676615 c.3365A>G p.D1122G Substitution - Missense 12:309816-309816 - HRA19 COSM4637678 c.3360C>T p.T1120T Substitution - coding silent 12:309821-309821 - HCT116 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - CCK81 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-B5-A0JY-01 COSM939271 c.2345G>A p.R782Q Substitution - Missense 12:322498-322498 - TCGA-AP-A0LM-01 COSM173430 c.3235G>A p.D1079N Substitution - Missense 12:309946-309946 - TCGA-BR-4184-01 COSM4041704 c.3898C>T p.L1300F Substitution - Missense 12:307486-307486 - LIM2405 COSM4613320 c.4406delT p.L1469fs*26 Deletion - Frameshift 12:295622-295622 - ME024T COSM226272 c.4261C>T p.P1421S Substitution - Missense 12:295782-295782 - TCGA-AN-A046-01 COSM3812054 c.791G>A p.R264Q Substitution - Missense 12:355237-355237 - 587286 COSM1211757 c.1115A>C p.N372T Substitution - Missense 12:352239-352239 - B105-1 COSM1746934 c.881A>T p.Y294F Substitution - Missense 12:354224-354224 - TCGA-AA-A029-01 COSM287413 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - TCGA-DR-A0ZM-01 COSM459505 c.797G>A p.R266Q Substitution - Missense 12:355231-355231 - T2664 COSM4694994 c.3044G>C p.S1015T Substitution - Missense 12:311057-311057 - TCGA-ED-A7XP-01 COSM4913359 c.1476C>G p.I492M Substitution - Missense 12:334255-334255 - PT36 COSM5916228 c.1784G>A p.G595E Substitution - Missense 12:329019-329019 - TCGA-BP-4981-01 COSM468358 c.1578T>C p.F526F Substitution - coding silent 12:333562-333562 - S02287 COSM5685594 c.3837G>T p.L1279F Substitution - Missense 12:307547-307547 - LP6005334-DNA_C02 COSM289706 c.3715C>T p.R1239W Substitution - Missense 12:307669-307669 - TCGA-AA-A00N-01 COSM275660 c.4150G>A p.E1384K Substitution - Missense 12:297125-297125 - B15 COSM1746936 c.755C>T p.A252V Substitution - Missense 12:356455-356455 - SNUH_G76_S1 COSM4418536 c.1023C>G p.V341V Substitution - coding silent 12:354082-354082 - TCGA-B5-A11N-01 COSM939247 c.2678G>A p.R893Q Substitution - Missense 12:318325-318325 - MD-289 COSM302466 c.2718A>C p.E906D Substitution - Missense 12:318285-318285 - PD6206a COSM4384655 c.2333A>G p.N778S Substitution - Missense 12:322510-322510 - 35M COSM5581451 c.3002C>T p.A1001V Substitution - Missense 12:313090-313090 - TCGA-39-5024-01 COSM693632 c.190G>C p.E64Q Substitution - Missense 12:385950-385950 - TCGA-EK-A2RJ-01 COSM4832125 c.3948C>T p.F1316F Substitution - coding silent 12:307072-307072 - Au3 COSM5601681 c.2104C>T p.H702Y Substitution - Missense 12:323646-323646 - B52-Tumor COSM1756774 c.4362G>A p.M1454I Substitution - Missense 12:295681-295681 - PT49 COSM5935885 c.3001G>A p.A1001T Substitution - Missense 12:313091-313091 - CSCC-60-T COSM4536184 c.2275G>A p.D759N Substitution - Missense 12:323082-323082 - OSCC-GB_00250111 COSM3710744 c.3061G>T p.E1021* Substitution - Nonsense 12:311040-311040 - TCGA-EE-A2MJ-06 COSM3460676 c.2130C>T p.P710P Substitution - coding silent 12:323620-323620 - ESCC_11 COSM5624227 c.572A>C p.K191T Substitution - Missense 12:363063-363063 - TCGA-AX-A0J1-01 COSM939003 c.4478G>T p.S1493I Substitution - Missense 12:293162-293162 - TCGA-CA-6717-01 COSM1361191 c.1943G>A p.R648Q Substitution - Missense 12:328860-328860 - 1N40-VS-1T40 COSM939271 c.2345G>A p.R782Q Substitution - Missense 12:322498-322498 - HCT8 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - Pat_66_A COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - 587228 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-A6-6780-01 COSM1361136 c.3982G>A p.V1328M Substitution - Missense 12:307038-307038 - 2492709 COSM287413 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - ME024T COSM226273 c.4246C>T p.P1416S Substitution - Missense 12:295782-295782 - TCGA-D8-A1JA-01 COSM3812055 c.769G>C p.D257H Substitution - Missense 12:356441-356441 - PD6958a COSM4384653 c.3442A>G p.N1148D Substitution - Missense 12:307942-307942 - TCGA-DC-5869-01 COSM1562150 c.1902G>A p.M634I Substitution - Missense 12:328901-328901 - ESCC_11 COSM5624226 c.572A>C p.K191T Substitution - Missense 12:363063-363063 - ME050T COSM230696 c.3568C>T p.P1190S Substitution - Missense 12:307816-307816 - HT115 COSM2066292 c.4048C>T p.R1350* Substitution - Nonsense 12:306972-306972 - TCGA-34-5236-01 COSM693245 c.4848A>C p.A1616A Substitution - coding silent 12:292792-292792 - TCGA-B5-A11E-01 COSM939267 c.2454G>T p.R818R Substitution - coding silent 12:321082-321082 - HCC093T COSM5810806 c.30G>T p.A10A Substitution - coding silent 12:389062-389062 - Pat_41_B COSM5841005 c.1000G>A p.D334N Substitution - Missense 12:354105-354105 - PT37 COSM5920439 c.4339G>A p.E1447K Substitution - Missense 12:295689-295689 - Gp5D COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - C086 COSM5533177 c.5005C>T p.H1669Y Substitution - Missense 12:285620-285620 - TCGA-AP-A051-01 COSM939269 c.2379C>A p.T793T Substitution - coding silent 12:322464-322464 - TCGA-D1-A163-01 COSM939279 c.2022G>A p.R674R Substitution - coding silent 12:323728-323728 - I2L-P7-Tumor-Organoid COSM5361914 c.3092G>A p.R1031H Substitution - Missense 12:311009-311009 - 407 COSM4430281 c.672+3A>G p.? Unknown 12:362960-362960 - ESO-139 COSM939484 c.1268C>T p.P423L Substitution - Missense 12:350661-350661 - T1764 COSM4694995 c.2530C>T p.R844W Substitution - Missense 12:321006-321006 - sysucc-311T COSM5478287 c.337A>C p.K113Q Substitution - Missense 12:384060-384060 - CCK81 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - T36 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-CJ-5683-01 COSM468385 c.878T>C p.L293P Substitution - Missense 12:354227-354227 - TCGA-EE-A3JD-06 COSM4394067 c.1774-1G>A p.? Unknown 12:329030-329030 - TCGA-FR-A3YN-06 COSM3460674 c.2315A>C p.D772A Substitution - Missense 12:322528-322528 - TCGA-D1-A167-01 COSM939484 c.1268C>T p.P423L Substitution - Missense 12:350661-350661 - TCGA-D3-A2JN-06 COSM3460558 c.3450C>T p.A1150A Substitution - coding silent 12:307934-307934 - PD9312a COSM5361915 c.3092G>A p.R1031H Substitution - Missense 12:311009-311009 - HT115 COSM2067960 c.1024G>A p.A342T Substitution - Missense 12:354081-354081 - T2269 COSM4694989 c.4250G>A p.R1417K Substitution - Missense 12:295778-295778 - TCGA-AX-A0J0-01 COSM939296 c.1912G>T p.E638* Substitution - Nonsense 12:328891-328891 - NB02C COSM1236245 c.1810C>T p.R604C Substitution - Missense 12:328993-328993 - sysucc-1163T COSM5458374 c.3967C>T p.R1323W Substitution - Missense 12:307053-307053 - TCGA-AP-A051-01 COSM939008 c.4283G>A p.S1428N Substitution - Missense 12:295760-295760 - PD6286a COSM4384651 c.3499C>T p.R1167C Substitution - Missense 12:307885-307885 - TCGA-EE-A2GO-06 COSM3460383 c.5143A>G p.M1715V Substitution - Missense 12:285482-285482 - TCGA-AN-A0FL-01 COSM431086 c.2815G>C p.E939Q Substitution - Missense 12:318188-318188 - TCGA-D1-A15X-01 COSM939548 c.984T>C p.P328P Substitution - coding silent 12:354121-354121 - PD9306a COSM5945243 c.1773G>A p.W591* Substitution - Nonsense 12:331819-331819 - LUAD-E00934 COSM403343 c.3660G>T p.R1220S Substitution - Missense 12:307724-307724 - 8044436 COSM3384377 c.434G>A p.R145H Substitution - Missense 12:366037-366037 - TCGA-EE-A2GO-06 COSM3460382 c.5047A>G p.M1683V Substitution - Missense 12:285482-285482 - TCGA-G2-A3VY-01 COSM3792592 c.1583C>G p.S528C Substitution - Missense 12:333557-333557 - PD9381a COSM5945241 c.1865C>T p.A622V Substitution - Missense 12:328938-328938 - PD5737a COSM4385660 c.3363_3364insAGA p.R1121_D1122insR Insertion - In frame 12:309817-309818 - 2492721 COSM5721868 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - TCGA-B5-A0JY-01 COSM939218 c.2946G>T p.K982N Substitution - Missense 12:313146-313146 - TCGA-EE-A2MK-06 COSM3460556 c.3602C>T p.S1201F Substitution - Missense 12:307782-307782 - TCGA-JW-A5VL-01 COSM4847231 c.4513G>C p.D1505H Substitution - Missense 12:293127-293127 - STC252 COSM5051575 c.4395C>T p.D1465D Substitution - coding silent 12:295648-295648 - T3094 COSM4694991 c.3596_3597delAA p.K1199fs*7 Deletion - Frameshift 12:307787-307788 - TCGA-FD-A3B8-01 COSM1299352 c.3493A>G p.I1165V Substitution - Missense 12:307891-307891 - TCGA-AP-A051-01 COSM939491 c.1052C>T p.A351V Substitution - Missense 12:352302-352302 - C086 COSM5533176 c.4909C>T p.H1637Y Substitution - Missense 12:285620-285620 - BD121T COSM4851572 c.3845G>A p.R1282H Substitution - Missense 12:307539-307539 - Pat_59_B COSM5840928 c.3637C>T p.P1213S Substitution - Missense 12:307747-307747 - TCGA-AP-A051-01 COSM939554 c.796C>T p.R266* Substitution - Nonsense 12:355232-355232 - TCGA-21-1081-01 COSM693970 c.1658A>G p.Y553C Substitution - Missense 12:331934-331934 - 1N31-VS-1T31 COSM4974262 c.1126G>C p.D376H Substitution - Missense 12:352228-352228 - SH-4435 COSM5020164 c.3197C>G p.S1066C Substitution - Missense 12:310904-310904 - C0092T COSM4152824 c.774A>T p.K258N Substitution - Missense 12:356436-356436 - CSCC-29-T COSM4449080 c.166-1G>A p.? Unknown 12:385975-385975 - TCGA-AA-A00N-01 COSM275661 c.4150G>A p.E1384K Substitution - Missense 12:297125-297125 - PD9205a COSM5945245 c.1445G>A p.W482* Substitution - Nonsense 12:334286-334286 - CSCC-31-T COSM4482600 c.2623C>T p.Q875* Substitution - Nonsense 12:318380-318380 - 761-01-1TD COSM145541 c.2758G>T p.D920Y Substitution - Missense 12:318245-318245 - TCGA-AG-A002-01 COSM261529 c.1456G>A p.D486N Substitution - Missense 12:334275-334275 - LS180 COSM2007600 c.227G>A p.R76H Substitution - Missense 12:385913-385913 - 587286 COSM1211756 c.1115A>C p.N372T Substitution - Missense 12:352239-352239 - Au10 COSM5598416 c.3795C>T p.A1265A Substitution - coding silent 12:307589-307589 - T2664 COSM4694993 c.3044G>C p.S1015T Substitution - Missense 12:311057-311057 - TCGA-AP-A0LM-01 COSM173429 c.3235G>A p.D1079N Substitution - Missense 12:309946-309946 - LIM2551 COSM4643711 c.2765T>C p.M922T Substitution - Missense 12:318238-318238 - TCGA-D8-A1XQ-01 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - CSCC-11-T COSM4453198 c.2636A>T p.D879V Substitution - Missense 12:318367-318367 - S02287 COSM5685593 c.3837G>T p.L1279F Substitution - Missense 12:307547-307547 - ME050T COSM230695 c.3568C>T p.P1190S Substitution - Missense 12:307816-307816 - TCGA-CG-5719-01 COSM4042460 c.51A>G p.P17P Substitution - coding silent 12:389041-389041 - CSCC-38-T COSM4446294 c.2541+3G>A p.? Unknown 12:320992-320992 - TCGA-AP-A051-01 COSM939270 c.2379C>A p.T793T Substitution - coding silent 12:322464-322464 - 1N40-VS-1T40 COSM123890 c.2345G>A p.R782Q Substitution - Missense 12:322498-322498 - TCGA-18-3409-01 COSM693859 c.402C>A p.T134T Substitution - coding silent 12:366069-366069 - LOVO COSM2066717 c.2511G>A p.P837P Substitution - coding silent 12:321025-321025 - CN-AML-CR-9-Dx COSM5427938 c.2163A>C p.P721P Substitution - coding silent 12:323194-323194 - TCGA-39-5024-01 COSM693631 c.190G>C p.E64Q Substitution - Missense 12:385950-385950 - BD57T COSM5510561 c.5067C>T p.N1689N Substitution - coding silent 12:285558-285558 - HT115 COSM2068399 c.491G>T p.R164I Substitution - Missense 12:365980-365980 - 193T COSM1726484 c.3254G>A p.S1085N Substitution - Missense 12:309927-309927 - T3021 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - LIM2405 COSM4613323 c.3276delA p.V1093fs*1 Deletion - Frameshift 12:309905-309905 - TCGA-BP-4787-01 COSM3359716 c.4016A>T p.D1339V Substitution - Missense 12:307004-307004 - TCGA-BF-A3DL-01 COSM4904465 c.4203T>C p.A1401A Substitution - coding silent 12:297072-297072 - PD6509a COSM4384659 c.1370C>T p.A457V Substitution - Missense 12:334361-334361 - TCGA-CG-4442-01 COSM4041874 c.1615A>G p.I539V Substitution - Missense 12:333525-333525 - HCT116 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - PD8533a COSM5945239 c.1936G>T p.E646* Substitution - Nonsense 12:328867-328867 - RKO COSM4647600 c.4317G>A p.V1439V Substitution - coding silent 12:295726-295726 - HOP-92 COSM1676616 c.3365A>G p.D1122G Substitution - Missense 12:309816-309816 - TCGA-AG-A002-01 COSM261528 c.2473G>T p.E825* Substitution - Nonsense 12:321063-321063 - 587238 COSM1211761 c.1406C>A p.P469Q Substitution - Missense 12:334325-334325 - 0089_CRUK_PC_0089_T1_DNA COSM4413678 c.2643C>T p.G881G Substitution - coding silent 12:318360-318360 - GC8_T COSM147386 c.3747G>A p.L1249L Substitution - coding silent 12:307637-307637 - B65 COSM1756777 c.1999G>C p.E667Q Substitution - Missense 12:323751-323751 - 24T COSM3710747 c.3044G>T p.S1015I Substitution - Missense 12:311057-311057 - KM12 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-ED-A7XP-01 COSM4913358 c.1476C>G p.I492M Substitution - Missense 12:334255-334255 - TCGA-FD-A3B5-01 COSM1299359 c.2716G>T p.E906* Substitution - Nonsense 12:318287-318287 - CSCC-38-T COSM4487792 c.322C>T p.P108S Substitution - Missense 12:384075-384075 - HN_62426 COSM123890 c.2345G>A p.R782Q Substitution - Missense 12:322498-322498 - LUAD-RT-S01703 COSM379581 c.1864G>T p.A622S Substitution - Missense 12:328939-328939 - PD18264a COSM5774003 c.3330G>A p.L1110L Substitution - coding silent 12:309851-309851 - T3094 COSM4694992 c.3596_3597delAA p.K1199fs*7 Deletion - Frameshift 12:307787-307788 - SNU-C4 COSM4615515 c.3597_3598insA p.G1200fs*7 Insertion - Frameshift 12:307786-307787 - 8044436 COSM3384378 c.434G>A p.R145H Substitution - Missense 12:366037-366037 - RK002_C COSM1628576 c.4395C>A p.D1465E Substitution - Missense 12:295648-295648 - 2492721 COSM5721869 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - PD6079a COSM4384661 c.970A>G p.I324V Substitution - Missense 12:354135-354135 - TCGA-AX-A0J0-01 COSM939300 c.1790A>C p.Q597P Substitution - Missense 12:329013-329013 - TCGA-AA-3715-01 COSM269427 c.3766T>C p.W1256R Substitution - Missense 12:307618-307618 - PD4959a COSM5778330 c.3840C>T p.S1280S Substitution - coding silent 12:307544-307544 - T1154 COSM4694998 c.2131A>C p.M711L Substitution - Missense 12:323619-323619 - TCGA-D7-A4YY-01 COSM4041816 c.1819C>T p.R607C Substitution - Missense 12:328984-328984 - TCGA-B0-5094-01 COSM468357 c.1609G>A p.V537I Substitution - Missense 12:333531-333531 - 8069321 COSM3772615 c.2045C>T p.T682I Substitution - Missense 12:323705-323705 - LS411 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-D5-6541-01 COSM1360988 c.5040T>A p.A1680A Substitution - coding silent 12:285585-285585 - Au10 COSM5598415 c.3795C>T p.A1265A Substitution - coding silent 12:307589-307589 - LS174T COSM4645850 c.3862G>A p.A1288T Substitution - Missense 12:307522-307522 - YURAY COSM3871582 c.2155C>T p.R719C Substitution - Missense 12:323202-323202 - NB-1977 COSM1285703 c.3219G>T p.V1073V Substitution - coding silent 12:309962-309962 - LUAD-YINHD COSM348659 c.2908A>T p.S970C Substitution - Missense 12:313184-313184 - S02348 COSM4382860 c.5C>G p.A2G Substitution - Missense 12:389087-389087 - TCGA-09-2049-01 COSM71281 c.3685C>T p.L1229F Substitution - Missense 12:307699-307699 - SJHYPO042 COSM4775690 c.2427-6C>T p.? Unknown 12:321115-321115 - Gp5D COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - CP66-MEL COSM22850 c.537+1G>A p.? Unknown 12:365933-365933 - BD114T COSM693234 c.4208C>T p.S1403F Substitution - Missense 12:297067-297067 - TCGA-AP-A059-01 COSM939250 c.2662C>T p.L888F Substitution - Missense 12:318341-318341 - SW620 COSM1676618 c.920A>C p.K307T Substitution - Missense 12:354185-354185 - L18 COSM5369313 c.1768G>C p.D590H Substitution - Missense 12:331824-331824 - TCGA-AP-A054-01 COSM939383 c.1475T>G p.I492S Substitution - Missense 12:334256-334256 - TCGA-EE-A2MJ-06 COSM3461474 c.342C>T p.I114I Substitution - coding silent 12:384055-384055 - 2011-2366:2012-1295-T COSM4604609 c.1930G>A p.E644K Substitution - Missense 12:328873-328873 - LP6007508-DNA_A01 COSM5951946 c.2783C>G p.S928C Substitution - Missense 12:318220-318220 - TCGA-DR-A0ZM-01 COSM459506 c.955C>G p.H319D Substitution - Missense 12:354150-354150 - PT49 COSM5935884 c.3001G>A p.A1001T Substitution - Missense 12:313091-313091 - TCGA-AX-A0J0-01 COSM939299 c.1790A>C p.Q597P Substitution - Missense 12:329013-329013 - 1N31-VS-1T31 COSM4974261 c.1126G>C p.D376H Substitution - Missense 12:352228-352228 - LUAD_E00522 COSM352451 c.659G>T p.R220L Substitution - Missense 12:362976-362976 - BD57T COSM5510560 c.4971C>T p.N1657N Substitution - coding silent 12:285558-285558 - YURAY COSM3871581 c.2155C>T p.R719C Substitution - Missense 12:323202-323202 - TCGA-CF-A1HS-01 COSM415866 c.3037-1G>C p.? Unknown 12:311065-311065 - TCGA-66-2778-01 COSM693861 c.469C>G p.L157V Substitution - Missense 12:366002-366002 - TCGA-EE-A3J5-06 COSM3461000 c.974C>T p.P325L Substitution - Missense 12:354131-354131 - MZ7-mel COSM22859 c.3230_3231insC p.T1078fs*12 Insertion - Frameshift 12:309950-309951 - TCGA-A6-6653-01 COSM1361139 c.3601T>C p.S1201P Substitution - Missense 12:307783-307783 - 2011-2282:2012-1330-T COSM4604331 c.1413C>G p.L471L Substitution - coding silent 12:334318-334318 - PT36 COSM5916230 c.3100C>T p.P1034S Substitution - Missense 12:311001-311001 - PD8935a COSM4384663 c.43C>T p.P15S Substitution - Missense 12:389049-389049 - TCGA-AC-A2FG-01 COSM3811943 c.4098T>C p.S1366S Substitution - coding silent 12:297177-297177 - 2492720 COSM5721869 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - TCGA-AA-3510-01 COSM1361277 c.570A>C p.E190D Substitution - Missense 12:363065-363065 - TCGA-76-6661-01 COSM3398694 c.4619T>G p.L1540* Substitution - Nonsense 12:293006-293006 - TCGA-CD-5801-01 COSM4041574 c.4805A>G p.E1602G Substitution - Missense 12:292820-292820 - ER_4949 COSM5967043 c.1703G>T p.R568L Substitution - Missense 12:331889-331889 - CSCC-31-T COSM4473742 c.1870C>T p.P624S Substitution - Missense 12:328933-328933 - TCGA-EE-A2A2-06 COSM3460998 c.1027G>A p.E343K Substitution - Missense 12:354078-354078 - P09-120 COSM245195 c.1703G>A p.R568H Substitution - Missense 12:331889-331889 - pfg016T COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-33-4532-01 COSM693913 c.1076G>T p.R359L Substitution - Missense 12:352278-352278 - TCGA-B5-A0JY-01 COSM939217 c.2946G>T p.K982N Substitution - Missense 12:313146-313146 - RK002_C COSM1628575 c.4380C>A p.D1460E Substitution - Missense 12:295648-295648 - NPC6F COSM4995122 c.3914C>A p.A1305D Substitution - Missense 12:307470-307470 - TARGET-30-PARDYU COSM1285704 c.5025C>A p.F1675L Substitution - Missense 12:285504-285504 - TCGA-D8-A1JA-01 COSM3812056 c.769G>C p.D257H Substitution - Missense 12:356441-356441 - 25T COSM3710745 c.3061G>T p.E1021* Substitution - Nonsense 12:311040-311040 - TCGA-CK-5913-01 COSM1361267 c.692G>A p.S231N Substitution - Missense 12:356518-356518 - TCGA-AP-A059-01 COSM939298 c.1883A>G p.D628G Substitution - Missense 12:328920-328920 - TCGA-66-2778-01 COSM693860 c.469C>G p.L157V Substitution - Missense 12:366002-366002 - TCGA-28-2502-01 COSM3398703 c.3666G>A p.R1222R Substitution - coding silent 12:307718-307718 - PD4120a COSM161884 c.1303G>A p.E435K Substitution - Missense 12:350626-350626 - S02344 COSM5693360 c.1507T>C p.W503R Substitution - Missense 12:333633-333633 - TCGA-FD-A3B8-01 COSM1299353 c.3493A>G p.I1165V Substitution - Missense 12:307891-307891 - PD4203a COSM161886 c.551C>T p.P184L Substitution - Missense 12:363084-363084 - TCGA-BR-8680-01 COSM4041796 c.2139G>T p.K713N Substitution - Missense 12:323611-323611 - TCGA-EK-A2RJ-01 COSM4832126 c.3948C>T p.F1316F Substitution - coding silent 12:307072-307072 - PT50 COSM5937557 c.2978C>T p.S993F Substitution - Missense 12:313114-313114 - TCGA-BQ-5875-01 COSM3986897 c.4274C>G p.P1425R Substitution - Missense 12:295769-295769 - TCGA-D1-A103-01 COSM939609 c.645G>A p.P215P Substitution - coding silent 12:362990-362990 - TCGA-43-5668-01 COSM693887 c.790C>T p.R264* Substitution - Nonsense 12:355238-355238 - TCGA-AP-A0LM-01 COSM939552 c.851G>A p.G284D Substitution - Missense 12:355177-355177 - TCGA-FD-A3B5-01 COSM1299358 c.2716G>T p.E906* Substitution - Nonsense 12:318287-318287 - TCGA-AA-3510-01 COSM1361276 c.570A>C p.E190D Substitution - Missense 12:363065-363065 - TCGA-CD-5801-01 COSM4041575 c.4820A>G p.E1607G Substitution - Missense 12:292820-292820 - PT37 COSM5920440 c.4354G>A p.E1452K Substitution - Missense 12:295689-295689 - 2318491 COSM4776605 c.3362G>C p.R1121T Substitution - Missense 12:309819-309819 - TCGA-D1-A15X-01 COSM939547 c.984T>C p.P328P Substitution - coding silent 12:354121-354121 - TCGA-29-1694-01 COSM1322557 c.1963C>G p.Q655E Substitution - Missense 12:328840-328840 - pfg217T COSM4748313 c.1332T>G p.N444K Substitution - Missense 12:334399-334399 - BD236T COSM230694 c.3781C>T p.R1261W Substitution - Missense 12:307603-307603 - H650 COSM1194639 c.1917G>T p.L639F Substitution - Missense 12:328886-328886 - TCGA-D1-A0ZO-01 COSM939272 c.2161C>A p.P721T Substitution - Missense 12:323196-323196 - B109 COSM1756775 c.2233C>T p.R745C Substitution - Missense 12:323124-323124 - HN_62338 COSM123889 c.4924G>C p.G1642R Substitution - Missense 12:285605-285605 - MD-289 COSM302465 c.2718A>C p.E906D Substitution - Missense 12:318285-318285 - TCGA-DR-A0ZM-01 COSM459507 c.955C>G p.H319D Substitution - Missense 12:354150-354150 - ER_4949 COSM5967042 c.1703G>T p.R568L Substitution - Missense 12:331889-331889 - RKO COSM4647599 c.4302G>A p.V1434V Substitution - coding silent 12:295726-295726 - B15 COSM1746935 c.755C>T p.A252V Substitution - Missense 12:356455-356455 - DN11135 COSM5960568 c.879C>T p.L293L Substitution - coding silent 12:354226-354226 - TCGA-CG-5723-01 COSM4041878 c.1346C>T p.P449L Substitution - Missense 12:334385-334385 - P09-120 COSM245194 c.1703G>A p.R568H Substitution - Missense 12:331889-331889 - TCGA-AP-A051-01 COSM939007 c.4268G>A p.S1423N Substitution - Missense 12:295760-295760 - H358 COSM1193975 c.3786G>T p.Q1262H Substitution - Missense 12:307598-307598 - TCGA-76-4934-01 COSM3398704 c.3571C>T p.L1191F Substitution - Missense 12:307813-307813 - TCGA-A5-A0GI-01 COSM939000 c.4523G>A p.R1508Q Substitution - Missense 12:293102-293102 - TCGA-BT-A3PK-01 COSM3792581 c.2355G>A p.R785R Substitution - coding silent 12:322488-322488 - TCGA-DR-A0ZM-01 COSM459504 c.797G>A p.R266Q Substitution - Missense 12:355231-355231 - 587238 COSM1211758 c.4522C>T p.R1508W Substitution - Missense 12:293103-293103 - LP6005690-DNA_C01 COSM1236245 c.1810C>T p.R604C Substitution - Missense 12:328993-328993 - PD7010a COSM939212 c.3091C>T p.R1031C Substitution - Missense 12:311010-311010 - pfg217T COSM4748312 c.1332T>G p.N444K Substitution - Missense 12:334399-334399 - TCGA-AA-3966-01 COSM272845 c.5042A>T p.E1681V Substitution - Missense 12:285583-285583 - TCGA-Q1-A73O-01 COSM4836251 c.3283G>A p.E1095K Substitution - Missense 12:309898-309898 - T3503 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - HCT15 COSM2065407 c.4710G>A p.K1570K Substitution - coding silent 12:292930-292930 - T3535 COSM2066716 c.2511G>A p.P837P Substitution - coding silent 12:321025-321025 - TCGA-D1-A163-01 COSM939278 c.2022G>A p.R674R Substitution - coding silent 12:323728-323728 - PD18264a COSM5774004 c.3330G>A p.L1110L Substitution - coding silent 12:309851-309851 - WA13 COSM240327 c.3470G>A p.R1157H Substitution - Missense 12:307914-307914 - LUAD_E00522 COSM352452 c.659G>T p.R220L Substitution - Missense 12:362976-362976 - 2275_T COSM3954743 c.2293G>A p.V765I Substitution - Missense 12:322550-322550 - TCGA-AG-A002-01 COSM261532 c.713A>C p.K238T Substitution - Missense 12:356497-356497 - TCGA-43-5668-01 COSM693888 c.790C>T p.R264* Substitution - Nonsense 12:355238-355238 - TCGA-EE-A3J5-06 COSM3461001 c.974C>T p.P325L Substitution - Missense 12:354131-354131 - TCGA-BS-A0U8-01 COSM939213 c.3041G>A p.G1014D Substitution - Missense 12:311060-311060 - pfg181T COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-CK-5913-01 COSM1361268 c.692G>A p.S231N Substitution - Missense 12:356518-356518 - TCGA-CF-A1HS-01 COSM415867 c.3037-1G>C p.? Unknown 12:311065-311065 - B109 COSM1756776 c.2233C>T p.R745C Substitution - Missense 12:323124-323124 - C32 COSM4618994 c.2145T>C p.C715C Substitution - coding silent 12:323605-323605 - 587238 COSM1211760 c.1406C>A p.P469Q Substitution - Missense 12:334325-334325 - PR-2915 COSM245197 c.744T>A p.V248V Substitution - coding silent 12:356466-356466 - TCGA-HU-A4GU-01 COSM4041771 c.2682G>A p.L894L Substitution - coding silent 12:318321-318321 - LP6005409-DNA_E02 COSM4411540 c.4792T>G p.S1598A Substitution - Missense 12:292833-292833 - T2269 COSM4694988 c.4697G>T p.R1566I Substitution - Missense 12:292943-292943 - CSCC-44-T COSM4446291 c.4075-3C>T p.? Unknown 12:297203-297203 - sysucc-311T COSM5478235 c.3999A>G p.R1333R Substitution - coding silent 12:307021-307021 - B65 COSM1756778 c.1999G>C p.E667Q Substitution - Missense 12:323751-323751 - LOVO COSM2066716 c.2511G>A p.P837P Substitution - coding silent 12:321025-321025 - 2492708 COSM287413 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - TCGA-AP-A051-01 COSM939555 c.796C>T p.R266* Substitution - Nonsense 12:355232-355232 - TCGA-EE-A2MJ-06 COSM3460675 c.2130C>T p.P710P Substitution - coding silent 12:323620-323620 - 23T COSM3710752 c.1308G>T p.E436D Substitution - Missense 12:350621-350621 - T2940 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - TCGA-D1-A17B-01 COSM939280 c.1991_1993delAAG p.E664delE Deletion - In frame 12:323757-323759 - TARGET-30-PARKAG COSM1236245 c.1810C>T p.R604C Substitution - Missense 12:328993-328993 - TCGA-CG-5719-01 COSM4042461 c.51A>G p.P17P Substitution - coding silent 12:389041-389041 - PD8313a COSM5945231 c.3146C>T p.A1049V Substitution - Missense 12:310955-310955 - TCGA-FS-A1ZM-06 COSM3460700 c.1871C>T p.P624L Substitution - Missense 12:328932-328932 - AOCS-084-1-X COSM4150054 c.4154A>C p.E1385A Substitution - Missense 12:297121-297121 - LIM2551 COSM4643712 c.2765T>C p.M922T Substitution - Missense 12:318238-318238 - TCGA-BF-A3DL-01 COSM4904466 c.4203T>C p.A1401A Substitution - coding silent 12:297072-297072 - WA13 COSM240328 c.3470G>A p.R1157H Substitution - Missense 12:307914-307914 - TCGA-AM-5820-01 COSM3688200 c.2087G>A p.R696Q Substitution - Missense 12:323663-323663 - TCGA-BR-7851-01 COSM4041798 c.2098C>T p.L700F Substitution - Missense 12:323652-323652 - BD114T COSM693233 c.4208C>T p.S1403F Substitution - Missense 12:297067-297067 - TCGA-D3-A2JN-06 COSM3460559 c.3450C>T p.A1150A Substitution - coding silent 12:307934-307934 - LS180 COSM2007599 c.227G>A p.R76H Substitution - Missense 12:385913-385913 - 0089_CRUK_PC_0089_T1_DNA COSM4413679 c.2643C>T p.G881G Substitution - coding silent 12:318360-318360 - PT50 COSM5937556 c.2978C>T p.S993F Substitution - Missense 12:313114-313114 - LS411 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - PR-2915 COSM245196 c.744T>A p.V248V Substitution - coding silent 12:356466-356466 - 2492709 COSM287414 c.3710C>T p.P1237L Substitution - Missense 12:307674-307674 - TCGA-BR-4184-01 COSM4041703 c.3898C>T p.L1300F Substitution - Missense 12:307486-307486 - TCGA-21-1081-01 COSM693971 c.1658A>G p.Y553C Substitution - Missense 12:331934-331934 - LUAD_E00565 COSM275661 c.4150G>A p.E1384K Substitution - Missense 12:297125-297125 - HCC2998 COSM1676614 c.4499A>C p.K1500T Substitution - Missense 12:293141-293141 - TCGA-JW-A5VL-01 COSM4847230 c.4498G>C p.D1500H Substitution - Missense 12:293127-293127 - TCGA-AN-A0AR-01 COSM431191 c.349C>A p.L117M Substitution - Missense 12:384048-384048 - TCGA-CJ-5683-01 COSM468384 c.878T>C p.L293P Substitution - Missense 12:354227-354227 - TCGA-D5-6928-01 COSM1361090 c.4170G>A p.M1390I Substitution - Missense 12:297105-297105 - 24T COSM3710746 c.3044G>T p.S1015I Substitution - Missense 12:311057-311057 - TCGA-CG-5721-01 COSM4041707 c.3561C>T p.S1187S Substitution - coding silent 12:307823-307823 - sysucc-1062T COSM5763412 c.3416A>G p.E1139G Substitution - Missense 12:307968-307968 - TCGA-A8-A09Z-01 COSM3811919 c.5042T>C p.L1681P Substitution - Missense 12:285487-285487 - TCGA-AX-A05S-01 COSM939275 c.2086C>T p.R696W Substitution - Missense 12:323664-323664 - RK216_C01 COSM3739655 c.2776A>G p.I926V Substitution - Missense 12:318227-318227 - TCGA-EK-A2PG-01 COSM4819235 c.674C>G p.S225* Substitution - Nonsense 12:356536-356536 - SH-7282 COSM5020671 c.2423A>T p.H808L Substitution - Missense 12:322420-322420 - T1764 COSM4694996 c.2530C>T p.R844W Substitution - Missense 12:321006-321006 - TCGA-AP-A0LM-01 COSM939216 c.3016G>A p.A1006T Substitution - Missense 12:313076-313076 - SNU-175 COSM1180773 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - Pat_40_B COSM3812001 c.2020C>T p.R674W Substitution - Missense 12:323730-323730 - TCGA-A8-A076-01 COSM5198875 c.2274_2275insA p.D759fs*4 Insertion - Frameshift 12:323082-323083 - I2L-P7-Tumor-Organoid COSM4613324 c.3276delA p.V1093fs*1 Deletion - Frameshift 12:309905-309905 - TCGA-28-2502-01 COSM3398702 c.3666G>A p.R1222R Substitution - coding silent 12:307718-307718 - TCGA-HU-A4G9-01 COSM4041764 c.2715C>T p.D905D Substitution - coding silent 12:318288-318288 - Gp2D COSM4627079 c.3048T>C p.N1016N Substitution - coding silent 12:311053-311053 - TCGA-46-3769-01 COSM693122 c.2775G>C p.L925L Substitution - coding silent 12:318228-318228 - TCGA-FS-A1ZM-06 COSM3460701 c.1871C>T p.P624L Substitution - Missense 12:328932-328932 - sysucc-1163T COSM5458373 c.3967C>T p.R1323W Substitution - Missense 12:307053-307053 - TCGA-D1-A17B-01 COSM939281 c.1991_1993delAAG p.E664delE Deletion - In frame 12:323757-323759 - LUAD_E00565 COSM275660 c.4150G>A p.E1384K Substitution - Missense 12:297125-297125 - TCGA-BP-4787-01 COSM3359717 c.4016A>T p.D1339V Substitution - Missense 12:307004-307004 - PD6286a COSM4384652 c.3499C>T p.R1167C Substitution - Missense 12:307885-307885 - TCGA-CG-4443-01 COSM4042019 c.688G>C p.V230L Substitution - Missense 12:356522-356522 - CCK81 COSM2066500 c.3123G>A p.P1041P Substitution - coding silent 12:310978-310978 - TCGA-EE-A3JD-06 COSM4394068 c.1774-1G>A p.? Unknown 12:329030-329030 - TCGA-C5-A1MH-01 COSM4821110 c.2344C>T p.R782* Substitution - Nonsense 12:322499-322499 - TCGA-B5-A11E-01 COSM939268 c.2454G>T p.R818R Substitution - coding silent 12:321082-321082 - TCGA-CD-8534-01 COSM4041774 c.2564A>T p.E855V Substitution - Missense 12:318439-318439 - LS174T COSM2007600 c.227G>A p.R76H Substitution - Missense 12:385913-385913 - 587228 COSM1180774 c.3597delA p.G1200fs*9 Deletion - Frameshift 12:307787-307787 - pfg008T COSM1639126 c.2034A>G p.A678A Substitution - coding silent 12:323716-323716 - CSCC-7-T COSM2066861 c.1835C>T p.S612L Substitution - Missense 12:328968-328968 - TCGA-DY-A1DC-01 COSM1562160 c.4211C>A p.S1404Y Substitution - Missense 12:297064-297064 - TCGA-BR-8589-01 COSM4041979 c.1121A>G p.K374R Substitution - Missense 12:352233-352233 - TCGA-BQ-5890-01 COSM3986938 c.671A>G p.Q224R Substitution - Missense 12:362964-362964 - 2492722 COSM5721869 c.2979C>T p.S993S Substitution - coding silent 12:313113-313113 - LS174T COSM2007599 c.227G>A p.R76H Substitution - Missense 12:385913-385913 - TCGA-BR-8059-01 COSM939275 c.2086C>T p.R696W Substitution - Missense 12:323664-323664 - TCGA-A8-A09Z-01 COSM3811920 c.5138T>C p.L1713P Substitution - Missense 12:285487-285487 - TCGA-A8-A0A6-01 COSM3811942 c.4437A>C p.P1479P Substitution - coding silent 12:295606-295606 - TCGA-D1-A16J-01 COSM693862 c.498C>G p.L166L Substitution - coding silent 12:365973-365973 - ID51 COSM1166673 c.965G>A p.C322Y Substitution - Missense 12:354140-354140 - Pat_24_B COSM5840943 c.2677C>T p.R893* Substitution - Nonsense 12:318326-318326 - TCGA-AP-A051-01 COSM939212 c.3091C>T p.R1031C Substitution - Missense 12:311010-311010 - CN-AML-CR-9-Dx COSM5427937 c.2163A>C p.P721P Substitution - coding silent 12:323194-323194 - PD4113a COSM166090 c.95delC p.P32fs*34 Deletion - Frameshift 12:388997-388997 - TCGA-AN-A046-01 COSM3812002 c.2020C>T p.R674W Substitution - Missense 12:323730-323730 - T1154 COSM4694997 c.2131A>C p.M711L Substitution - Missense 12:323619-323619 - LP6005334-DNA_C02 COSM289707 c.3715C>T p.R1239W Substitution - Missense 12:307669-307669 - sysucc-311T COSM5478286 c.337A>C p.K113Q Substitution - Missense 12:384060-384060 - PD9282a COSM5945235 c.2524C>T p.Q842* Substitution - Nonsense 12:321012-321012 - CSCC-31-T COSM4473743 c.1870C>T p.P624S Substitution - Missense 12:328933-328933 - RK002_C01 COSM1628576 c.4395C>A p.D1465E Substitution - Missense 12:295648-295648 - PD8935a COSM4384664 c.43C>T p.P15S Substitution - Missense 12:389049-389049 - 587376 COSM1211765 c.4773A>C p.K1591N Substitution - Missense 12:292867-292867 - LS174T COSM4645851 c.3862G>A p.A1288T Substitution - Missense 12:307522-307522 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.76272 12p11 180202

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I492S c.1475T>G 12 443422 UCEC A C Nonsense p.L1540* c.4619T>G 12 402172 GBM A G Synonymous p.A1401A c.4203T>C 12 406238 CM A G Synonymous p.F526F c.1578T>C 12 442728 RCCC A - IntronicDeletion . c.1150-11delT 12 459956 STAD C A Missense p.A510S c.1528G>T 12 442778 LUAD C A Missense p.D920Y c.2758G>T 12 427411 CLL C A Missense p.G1172V c.3515G>T 12 417035 PRAD C A Missense p.R359L c.1076G>T 12 461444 LUSC C A Missense p.R735S c.2205G>T 12 432318 LUAD C A Nonsense p.E906* c.2716G>T 12 427453 BLCA C A Synonymous p.V1073V c.3219G>T 12 419128 NB C G Missense p.A11P c.31G>C 12 498227 LUAD C G Missense p.E64Q c.190G>C 12 495116 LUSC C G Missense p.E939Q c.2815G>C 12 427354 BRCA C G Missense p.G1642R c.4924G>C 12 394771 HNSC C G Missense p.V230L c.688G>C 12 465688 STAD C G SpliceAcceptorSNV . c.3037-1G>C 12 420231 BLCA C G Synonymous p.L925L c.2775G>C 12 427394 LUSC CTCTGAAAAACCAAAGTAGATTCTCACAATTTG - SpliceAcceptorDeletion . c.3037-31_3038delCAAATTGTGAGAATCTACTTTGGTTTTTCAGAG 12 420229 BRCA C T IntronicSNV . c.1774-77G>A 12 438272 HC C T IntronicSNV . c.4074+44G>A 12 416068 CM C T Missense p.A1052T c.3154G>A 12 420113 LUAD C T Missense p.D1079N c.3235G>A 12 419112 COREAD C T Missense p.E305K c.913G>A 12 463358 HNSC C T Missense p.E343K c.1027G>A 12 463244 CM C T Missense p.E435K c.1303G>A 12 459792 BRCA C T Missense p.G1086D c.3257G>A 12 419090 STAD C T Missense p.M876I c.2628G>A 12 427541 LUAD C T Missense p.R1508Q c.4523G>A 12 402268 UCEC C T Missense p.R782Q c.2345G>A 12 431664 HNSC C T Missense p.V1451I c.4351G>A 12 404843 CM C T Missense p.V537I c.1609G>A 12 442697 RCCC C T SpliceAcceptorSNV . c.1774-1G>A 12 438196 CM C T Synonymous p.G245G c.735G>A 12 465641 BRCA C T Synonymous p.R1222R c.3666G>A 12 416884 GBM C T Synonymous p.R674R c.2022G>A 12 432894 UCEC C T Synonymous p.R785R c.2355G>A 12 431654 BLCA CTT - InFrameDeletion p.E664delE c.1991_1993delAAG 12 432923 UCEC G A 3-UTRSNV . c.5070+4255C>T 12 390370 DLBCL G A Missense p.A1028V c.3083C>T 12 420184 NB G A Missense p.L1191F c.3571C>T 12 416979 GBM G A Missense p.L1211F c.3631C>T 12 416919 CM G A Missense p.L1229F c.3685C>T 12 416865 OV G A Missense p.L1233F c.3697C>T 12 416853 BLCA G A Missense p.P1237L c.3710C>T 12 416840 COREAD G A Missense p.P1241S c.3721C>T 12 416829 LUSC G A Missense p.P1371S c.4111C>T 12 406330 HNSC G A Missense p.P1416S c.4246C>T 12 404948 CM G A Missense p.P1420L c.4259C>T 12 404935 CM G A Missense p.P184L c.551C>T 12 472250 BRCA G A Missense p.P325L c.974C>T 12 463297 CM G A Missense p.P325S c.973C>T 12 463298 LUAD G A Missense p.P624L c.1871C>T 12 438098 CM G A Missense p.P892S c.2674C>T 12 427495 CM G A Missense p.R1217W c.3649C>T 12 416901 LUAD G A Missense p.R1261W c.3781C>T 12 416769 CM G A Missense p.R696W c.2086C>T 12 432830 UCEC G A Missense p.R719C c.2155C>T 12 432368 CM G A Missense p.S1201F c.3602C>T 12 416948 CM G A Missense p.S1383F c.4148C>T 12 406293 CM G A Missense p.S1403F c.4208C>T 12 406233 LUSC G A Nonsense p.Q1411* c.4231C>T 12 406210 LUAD G A Nonsense p.R264* c.790C>T 12 464404 LUSC G A Synonymous p.A1150A c.3450C>T 12 417100 CM G A Synonymous p.I114I c.342C>T 12 493221 CM G A Synonymous p.P1237P c.3711C>T 12 416839 CM G A Synonymous p.P710P c.2130C>T 12 432786 CM G A Synonymous p.Y720Y c.2160C>T 12 432363 CM G C Missense p.L105V c.313C>G 12 493250 LUAD G C Missense p.L157V c.469C>G 12 475168 LUSC G C Missense p.P215R c.644C>G 12 472157 CM G C Synonymous p.L166L c.498C>G 12 475139 HNSC G C Synonymous p.L166L c.498C>G 12 475139 LUSC G - Frameshift p.P32Rfs*34 c.95delC 12 498163 BRCA GG AA Missense p.P1592L c.4775_4776delinsTT 12 402015 CM GG AC Missense p.S414C c.1241_1242delinsGT 12 459853 CM G T Missense p.D1460E c.4380C>A 12 404814 HC G T Missense p.F1675L c.5025C>A 12 394670 NB G T Missense p.L117M c.349C>A 12 493214 BRCA G T Missense p.P721T c.2161C>A 12 432362 UCEC T A IntronicSNV . c.366+8647A>T 12 484550 CLL T A Missense p.D1339V c.4016A>T 12 416170 RCCC T A Missense p.R1089W c.3265A>T 12 419082 RCCC T C Missense p.I1165V c.3493A>G 12 417057 BLCA T C Missense p.K1151E c.3451A>G 12 417099 CM T C Missense p.M1683V c.5047A>G 12 394648 CM T C Missense p.M277V c.829A>G 12 464365 HNSC T C Missense p.Y553C c.1658A>G 12 441100 LUSC T C Synonymous p.A678A c.2034A>G 12 432882 STAD T C Synonymous p.P17P c.51A>G 12 498207 STAD T C Synonymous p.V1231V c.3693A>G 12 416857 SCLC T - Frameshift p.G1200Dfs*9 c.3597delA 12 416953 STAD - T Frameshift p.G1200Rfs*7 c.3597dupA 12 416953 GBM TGAAA - IntronicDeletion . c.1969-6_1969-2delTTTCA 12 432949 BRCA T G Missense p.K1162Q c.3484A>C 12 417066 THCA T G Synonymous p.A1611A c.4833A>C 12 401958 LUSC T - IntronicDeletion . c.366+276delA 12 492921 CM