Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 183532431 183532431 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr1:183532431G>A c.1189C>T c.(1189-1191)Cgg>Tgg p.R397W BLCA 1 183532664 183532664 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr1:183532664C>G c.1083G>C c.(1081-1083)acG>acC p.T361T BLCA 1 183532680 183532680 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr1:183532680A>T c.1067T>A c.(1066-1068)gTg>gAg p.V356E BLCA 1 183533167 183533167 + Splice_Site SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:183533167T>G c.e11-2 BLCA 1 183534894 183534894 + Silent SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr1:183534894G>A c.945C>T c.(943-945)tcC>tcT p.S315S BLCA 1 183536393 183536393 + Silent SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr1:183536393G>T c.801C>A c.(799-801)gtC>gtA p.V267V BLCA 1 183542321 183542321 + Splice_Site SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr1:183542321G>A c.608C>T c.(607-609)aCg>aTg p.T203M BLCA 1 183559371 183559371 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 g.chr1:183559371C>T c.94G>A c.(94-96)Gtc>Atc p.V32I BLCA 1 183559431 183559431 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr1:183559431C>T c.34G>A c.(34-36)Gaa>Aaa p.E12K BRCA 1 183525283 183525284 + Frame_Shift_Del DEL TG TG - TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr1:183525283_183525284delTG c.1550_1551delCA c.(1549-1551)acafs p.T517fs BRCA 1 183532637 183532637 + Silent SNP G G A TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr1:183532637G>A c.1110C>T c.(1108-1110)ctC>ctT p.L370L BRCA 1 183534865 183534865 + Missense_Mutation SNP G G T TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr1:183534865G>T c.974C>A c.(973-975)gCc>gAc p.A325D BRCA 1 183536063 183536063 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 g.chr1:183536063G>T c.916C>A c.(916-918)Cag>Aag p.Q306K BRCA 1 183536371 183536371 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:183536371C>G c.823G>C c.(823-825)Gat>Cat p.D275H BRCA 1 183542412 183542412 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr1:183542412C>T c.517G>A c.(517-519)Gag>Aag p.E173K BRCA 1 183543637 183543637 + Silent SNP C C G TCGA-BH-A18Q-01A-12D-A12B-09 TCGA-BH-A18Q-11A-34D-A12B-09 g.chr1:183543637C>G c.486G>C c.(484-486)gcG>gcC p.A162A BRCA 1 183556058 183556058 + Nonsense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 g.chr1:183556058G>A c.229C>T c.(229-231)Cga>Tga p.R77* BRCA 1 183556064 183556064 + Missense_Mutation SNP A A C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 g.chr1:183556064A>C c.223T>G c.(223-225)Ttc>Gtc p.F75V BRCA 1 183559438 183559438 + Silent SNP G G C TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr1:183559438G>C c.27C>G c.(25-27)ctC>ctG p.L9L CESC 1 183536381 183536381 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr1:183536381C>T c.813G>A c.(811-813)aaG>aaA p.K271K CESC 1 183536404 183536404 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 g.chr1:183536404C>T c.790G>A c.(790-792)Ggg>Agg p.G264R CESC 1 183542373 183542373 + Missense_Mutation SNP T T A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 g.chr1:183542373T>A c.556A>T c.(556-558)Aat>Tat p.N186Y COAD 1 183525291 183525291 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:183525291C>T c.1543G>A c.(1543-1545)Gca>Aca p.A515T COAD 1 183525317 183525317 + Frame_Shift_Del DEL A A - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:183525317delA c.1517delT c.(1516-1518)ttcfs p.F506fs COAD 1 183534891 183534891 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:183534891G>A c.948C>T c.(946-948)gaC>gaT p.D316D COAD 1 183536350 183536350 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:183536350A>G c.844T>C c.(844-846)Ttc>Ctc p.F282L COAD 1 183543622 183543622 + Splice_Site SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr1:183543622C>A c.501G>T c.(499-501)tgG>tgT p.W167C COAD 1 183543623 183543623 + Splice_Site SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:183543623C>A c.500G>T c.(499-501)tGg>tTg p.W167L COAD 1 183543623 183543623 + Splice_Site SNP C C T TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr1:183543623C>T c.500G>A c.(499-501)tGg>tAg p.W167* COAD 1 183543674 183543674 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:183543674A>G c.449T>C c.(448-450)aTg>aCg p.M150T COAD 1 183556058 183556058 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:183556058G>A c.229C>T c.(229-231)Cga>Tga p.R77* COAD 1 183556091 183556091 + Silent SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:183556091G>T c.196C>A c.(196-198)Cga>Aga p.R66R COADREAD 1 183525291 183525291 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:183525291C>T c.1543G>A c.(1543-1545)Gca>Aca p.A515T COADREAD 1 183525317 183525317 + Frame_Shift_Del DEL A A - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:183525317delA c.1517delT c.(1516-1518)ttcfs p.F506fs COADREAD 1 183529276 183529276 + Missense_Mutation SNP C C T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr1:183529276C>T c.1423G>A c.(1423-1425)Gac>Aac p.D475N COADREAD 1 183532626 183532626 + Missense_Mutation SNP T T A TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr1:183532626T>A c.1121A>T c.(1120-1122)cAg>cTg p.Q374L COADREAD 1 183534891 183534891 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:183534891G>A c.948C>T c.(946-948)gaC>gaT p.D316D COADREAD 1 183536350 183536350 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:183536350A>G c.844T>C c.(844-846)Ttc>Ctc p.F282L COADREAD 1 183543622 183543622 + Splice_Site SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr1:183543622C>A c.501G>T c.(499-501)tgG>tgT p.W167C COADREAD 1 183543623 183543623 + Splice_Site SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:183543623C>A c.500G>T c.(499-501)tGg>tTg p.W167L COADREAD 1 183543623 183543623 + Splice_Site SNP C C T TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr1:183543623C>T c.500G>A c.(499-501)tGg>tAg p.W167* COADREAD 1 183543674 183543674 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:183543674A>G c.449T>C c.(448-450)aTg>aCg p.M150T COADREAD 1 183556058 183556058 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:183556058G>A c.229C>T c.(229-231)Cga>Tga p.R77* COADREAD 1 183556091 183556091 + Silent SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:183556091G>T c.196C>A c.(196-198)Cga>Aga p.R66R ESCA 1 183543652 183543652 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr1:183543652G>T c.471C>A c.(469-471)tcC>tcA p.S157S GBM 1 183532621 183532621 + Missense_Mutation SNP G G A TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chr1:183532621G>A c.1126C>T c.(1126-1128)Cgg>Tgg p.R376W GBM 1 183542320 183542320 + Splice_Site SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 g.chr1:183542320C>T c.609G>A c.(607-609)acG>acA p.T203T GBM 1 183546838 183546838 + Missense_Mutation SNP C C A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 g.chr1:183546838C>A c.262G>T c.(262-264)Gat>Tat p.D88Y GBMLGG 1 183532621 183532621 + Missense_Mutation SNP G G A TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chr1:183532621G>A c.1126C>T c.(1126-1128)Cgg>Tgg p.R376W GBMLGG 1 183536117 183536117 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:183536117G>A c.862C>T c.(862-864)Ctt>Ttt p.L288F GBMLGG 1 183538285 183538285 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:183538285C>A c.705G>T c.(703-705)gaG>gaT p.E235D GBMLGG 1 183542320 183542320 + Splice_Site SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 g.chr1:183542320C>T c.609G>A c.(607-609)acG>acA p.T203T GBMLGG 1 183543623 183543623 + Splice_Site SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr1:183543623C>T c.500G>A c.(499-501)tGg>tAg p.W167* GBMLGG 1 183546838 183546838 + Missense_Mutation SNP C C A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 g.chr1:183546838C>A c.262G>T c.(262-264)Gat>Tat p.D88Y HNSC 1 183529314 183529314 + Missense_Mutation SNP A A G TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chr1:183529314A>G c.1385T>C c.(1384-1386)gTg>gCg p.V462A HNSC 1 183529328 183529328 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr1:183529328C>G c.1371G>C c.(1369-1371)aaG>aaC p.K457N HNSC 1 183532571 183532571 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr1:183532571C>T c.1176G>A c.(1174-1176)ctG>ctA p.L392L HNSC 1 183543721 183543723 + In_Frame_Del DEL CTT CTT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr1:183543721_183543723delCTT c.400_402delAAG c.(400-402)aagdel p.K134del HNSC 1 183543724 183543724 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr1:183543724C>G c.399G>C c.(397-399)aaG>aaC p.K133N HNSC 1 183546795 183546795 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 g.chr1:183546795C>G c.305G>C c.(304-306)cGa>cCa p.R102P HNSC 1 183556034 183556034 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 g.chr1:183556034C>T c.253G>A c.(253-255)Gag>Aag p.E85K KIPAN 1 183532672 183532672 + Nonsense_Mutation SNP T T A TCGA-BP-4986-01A-01D-1462-08 TCGA-BP-4986-11A-01D-1462-08 g.chr1:183532672T>A c.1075A>T c.(1075-1077)Aag>Tag p.K359* KIPAN 1 183543737 183543737 + Missense_Mutation SNP A A T TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr1:183543737A>T c.386T>A c.(385-387)tTc>tAc p.F129Y KIRC 1 183532672 183532672 + Nonsense_Mutation SNP T T A TCGA-BP-4986-01A-01D-1462-08 TCGA-BP-4986-11A-01D-1462-08 g.chr1:183532672T>A c.1075A>T c.(1075-1077)Aag>Tag p.K359* KIRP 1 183543737 183543737 + Missense_Mutation SNP A A T TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr1:183543737A>T c.386T>A c.(385-387)tTc>tAc p.F129Y LGG 1 183536117 183536117 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:183536117G>A c.862C>T c.(862-864)Ctt>Ttt p.L288F LGG 1 183538285 183538285 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:183538285C>A c.705G>T c.(703-705)gaG>gaT p.E235D LGG 1 183543623 183543623 + Splice_Site SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr1:183543623C>T c.500G>A c.(499-501)tGg>tAg p.W167* LIHC 1 183532683 183532683 + Missense_Mutation SNP T T G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr1:183532683T>G c.1064A>C c.(1063-1065)aAg>aCg p.K355T LUAD 1 183525357 183525357 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr1:183525357C>T c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K LUAD 1 183529285 183529285 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr1:183529285G>C c.1414C>G c.(1414-1416)Caa>Gaa p.Q472E LUAD 1 183534839 183534839 + Splice_Site SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 g.chr1:183534839C>T c.1000G>A c.(1000-1002)Ggc>Agc p.G334S LUAD 1 183536055 183536055 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr1:183536055C>A c.924G>T c.(922-924)caG>caT p.Q308H LUAD 1 183536461 183536461 + Missense_Mutation SNP G G A TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr1:183536461G>A c.733C>T c.(733-735)Cac>Tac p.H245Y LUAD 1 183546792 183546792 + Missense_Mutation SNP C C A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr1:183546792C>A c.308G>T c.(307-309)gGg>gTg p.G103V LUAD 1 183546827 183546827 + Missense_Mutation SNP G G C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr1:183546827G>C c.273C>G c.(271-273)atC>atG p.I91M LUAD 1 183556105 183556105 + Missense_Mutation SNP G G A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr1:183556105G>A c.182C>T c.(181-183)aCc>aTc p.T61I LUSC 1 183525256 183525256 + Silent SNP G G C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr1:183525256G>C c.1578C>G c.(1576-1578)gtC>gtG p.V526V LUSC 1 183532587 183532587 + Missense_Mutation SNP A A C TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr1:183532587A>C c.1160T>G c.(1159-1161)cTg>cGg p.L387R LUSC 1 183543638 183543638 + Missense_Mutation SNP G G T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 g.chr1:183543638G>T c.485C>A c.(484-486)gCg>gAg p.A162E LUSC 1 183543663 183543663 + Missense_Mutation SNP G G T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr1:183543663G>T c.460C>A c.(460-462)Ccc>Acc p.P154T LUSC 1 183559390 183559390 + Silent SNP G G T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr1:183559390G>T c.75C>A c.(73-75)gcC>gcA p.A25A OV 1 183529377 183529378 + Missense_Mutation DNP TC TC GT TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 g.chr1:183529377_183529378TC>GT c.1321_1322GA>AC c.(1321-1323)GAa>ACa p.E441T OV 1 183532573 183532573 + Missense_Mutation SNP G G C TCGA-23-1111-01A-01W-0639-09 TCGA-23-1111-10C-01W-0639-09 g.chr1:183532573G>C c.1174C>G c.(1174-1176)Ctg>Gtg p.L392V OV 1 183534893 183534893 + Missense_Mutation SNP C C T TCGA-24-1423-01A-01W-0545-08 TCGA-24-1423-10A-01W-0545-08 g.chr1:183534893C>T c.946G>A c.(946-948)Gac>Aac p.D316N OV 1 183539950 183539950 + Missense_Mutation SNP C C T TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 g.chr1:183539950C>T c.634G>A c.(634-636)Gac>Aac p.D212N OV 1 183543622 183543622 + Splice_Site SNP C C G TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 g.chr1:183543622C>G c.501G>C c.(499-501)tgG>tgC p.W167C OV 1 183543675 183543675 + Missense_Mutation SNP T T C TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 g.chr1:183543675T>C c.448A>G c.(448-450)Atg>Gtg p.M150V PAAD 1 183532664 183532664 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:183532664C>T c.1083G>A c.(1081-1083)acG>acA p.T361T PAAD 1 183546760 183546760 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:183546760G>T c.340C>A c.(340-342)Ctc>Atc p.L114I PRAD 1 183532621 183532621 + Missense_Mutation SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 g.chr1:183532621G>A c.1126C>T c.(1126-1128)Cgg>Tgg p.R376W PRAD 1 183534901 183534901 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 g.chr1:183534901G>A c.938C>T c.(937-939)cCg>cTg p.P313L PRAD 1 183539961 183539961 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 g.chr1:183539961A>T c.623T>A c.(622-624)gTg>gAg p.V208E READ 1 183529276 183529276 + Missense_Mutation SNP C C T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr1:183529276C>T c.1423G>A c.(1423-1425)Gac>Aac p.D475N READ 1 183532626 183532626 + Missense_Mutation SNP T T A TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr1:183532626T>A c.1121A>T c.(1120-1122)cAg>cTg p.Q374L SKCM 1 183529291 183529291 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:183529291C>T c.1408G>A c.(1408-1410)Gct>Act p.A470T SKCM 1 183529292 183529292 + Silent SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:183529292C>T c.1407G>A c.(1405-1407)gaG>gaA p.E469E SKCM 1 183529378 183529378 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:183529378C>T c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K SKCM 1 183532329 183532329 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr1:183532329C>T c.e13+1 SKCM 1 183536087 183536087 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:183536087C>T c.892G>A c.(892-894)Gag>Aag p.E298K SKCM 1 183539946 183539946 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:183539946C>T c.638G>A c.(637-639)aGt>aAt p.S213N SKCM 1 183539972 183539972 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr1:183539972G>A c.612C>T c.(610-612)gtC>gtT p.V204V SKCM 1 183543646 183543646 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 g.chr1:183543646G>A c.477C>T c.(475-477)atC>atT p.I159I SKCM 1 183543646 183543646 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:183543646G>A c.477C>T c.(475-477)atC>atT p.I159I SKCM 1 183543712 183543712 + Nonsense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr1:183543712C>T c.411G>A c.(409-411)tgG>tgA p.W137* SKCM 1 183546757 183546757 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:183546757G>A c.343C>T c.(343-345)Cag>Tag p.Q115* SKCM 1 183546838 183546838 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:183546838C>T c.262G>A c.(262-264)Gat>Aat p.D88N

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 1 183520210 183520210 single base substitution C T downstream_gene_variant BLCA-CN 1 183556077 183556077 single base substitution C T synonymous_variant L70L 210G>A BLCA-US 1 183520021 183520021 single base substitution G A downstream_gene_variant BLCA-US 1 183532431 183532431 single base substitution G A exon_variant BLCA-US 1 183532431 183532431 single base substitution G A missense_variant R136W 406C>T BLCA-US 1 183532431 183532431 single base substitution G A missense_variant R316W 946C>T BLCA-US 1 183532431 183532431 single base substitution G A missense_variant R352W 1054C>T BLCA-US 1 183532431 183532431 single base substitution G A missense_variant R397W 1189C>T BLCA-US 1 183532431 183532431 single base substitution G A missense_variant R48W 142C>T BLCA-US 1 183532680 183532680 single base substitution A T exon_variant BLCA-US 1 183532680 183532680 single base substitution A T missense_variant V275E 824T>A BLCA-US 1 183532680 183532680 single base substitution A T missense_variant V311E 932T>A BLCA-US 1 183532680 183532680 single base substitution A T missense_variant V356E 1067T>A BLCA-US 1 183532680 183532680 single base substitution A T missense_variant V7E 20T>A BLCA-US 1 183532680 183532680 single base substitution A T missense_variant V95E 284T>A BLCA-US 1 183542321 183542321 single base substitution G A intron_variant BLCA-US 1 183542321 183542321 single base substitution G A missense_variant T158M 473C>T BLCA-US 1 183542321 183542321 single base substitution G A missense_variant T203M 608C>T BLCA-US 1 183542321 183542321 single base substitution G A upstream_gene_variant BLCA-US 1 183559371 183559371 single base substitution C T missense_variant V32I 94G>A BOCA-FR 1 183539551 183539551 single base substitution C T intron_variant BOCA-FR 1 183539551 183539551 single base substitution C T upstream_gene_variant BRCA-EU 1 183521292 183521293 deletion of <=200bp GA - downstream_gene_variant BRCA-EU 1 183522058 183522058 single base substitution G A downstream_gene_variant BRCA-EU 1 183522755 183522755 single base substitution C T downstream_gene_variant BRCA-EU 1 183524738 183524738 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 183524738 183524738 single base substitution G A downstream_gene_variant BRCA-EU 1 183524976 183524976 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 183524976 183524976 single base substitution C T downstream_gene_variant BRCA-EU 1 183525402 183525402 single base substitution C A downstream_gene_variant BRCA-EU 1 183525402 183525402 single base substitution C A intron_variant BRCA-EU 1 183526311 183526311 single base substitution C T downstream_gene_variant BRCA-EU 1 183526311 183526311 single base substitution C T intron_variant BRCA-EU 1 183526624 183526624 single base substitution G A downstream_gene_variant BRCA-EU 1 183526624 183526624 single base substitution G A intron_variant BRCA-EU 1 183526656 183526656 single base substitution A G downstream_gene_variant BRCA-EU 1 183526656 183526656 single base substitution A G intron_variant BRCA-EU 1 183527428 183527428 single base substitution A C downstream_gene_variant BRCA-EU 1 183527428 183527428 single base substitution A C intron_variant BRCA-EU 1 183528303 183528303 single base substitution T G downstream_gene_variant BRCA-EU 1 183528303 183528303 single base substitution T G intron_variant BRCA-EU 1 183531105 183531105 single base substitution T A downstream_gene_variant BRCA-EU 1 183531105 183531105 single base substitution T A intron_variant BRCA-EU 1 183531569 183531593 deletion of <=200bp CCAGAGACACCAGGGAGTCTCATCC - downstream_gene_variant BRCA-EU 1 183531569 183531593 deletion of <=200bp CCAGAGACACCAGGGAGTCTCATCC - intron_variant BRCA-EU 1 183532828 183532828 single base substitution G A exon_variant BRCA-EU 1 183532828 183532828 single base substitution G A intron_variant BRCA-EU 1 183533263 183533263 deletion of <=200bp C - intron_variant BRCA-EU 1 183533263 183533263 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 183533660 183533660 single base substitution G C intron_variant BRCA-EU 1 183533660 183533660 single base substitution G C upstream_gene_variant BRCA-EU 1 183533790 183533790 single base substitution G A intron_variant BRCA-EU 1 183533790 183533790 single base substitution G A upstream_gene_variant BRCA-EU 1 183535023 183535023 single base substitution G C intron_variant BRCA-EU 1 183535023 183535023 single base substitution G C upstream_gene_variant BRCA-EU 1 183535947 183535947 single base substitution C G intron_variant BRCA-EU 1 183535947 183535947 single base substitution C G upstream_gene_variant BRCA-EU 1 183536211 183536211 single base substitution G A intron_variant BRCA-EU 1 183536211 183536211 single base substitution G A upstream_gene_variant BRCA-EU 1 183537263 183537263 single base substitution C G intron_variant BRCA-EU 1 183537263 183537263 single base substitution C G upstream_gene_variant BRCA-EU 1 183538012 183538012 single base substitution G A intron_variant BRCA-EU 1 183538012 183538012 single base substitution G A upstream_gene_variant BRCA-EU 1 183538723 183538723 deletion of <=200bp T - intron_variant BRCA-EU 1 183538723 183538723 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 183539215 183539215 single base substitution C G intron_variant BRCA-EU 1 183539215 183539215 single base substitution C G upstream_gene_variant BRCA-EU 1 183539925 183539925 single base substitution A C missense_variant L139R 416T>G BRCA-EU 1 183539925 183539925 single base substitution A C missense_variant L175R 524T>G BRCA-EU 1 183539925 183539925 single base substitution A C missense_variant L220R 659T>G BRCA-EU 1 183539925 183539925 single base substitution A C upstream_gene_variant BRCA-EU 1 183542637 183542637 single base substitution G C intron_variant BRCA-EU 1 183542637 183542637 single base substitution G C upstream_gene_variant BRCA-EU 1 183543224 183543228 deletion of <=200bp CAAAA - intron_variant BRCA-EU 1 183543224 183543228 deletion of <=200bp CAAAA - upstream_gene_variant BRCA-EU 1 183544403 183544403 single base substitution G C intron_variant BRCA-EU 1 183545211 183545211 single base substitution G A intron_variant BRCA-EU 1 183545659 183545659 single base substitution G A intron_variant BRCA-EU 1 183545753 183545753 single base substitution G A intron_variant BRCA-EU 1 183549028 183549028 single base substitution C T intron_variant BRCA-EU 1 183550288 183550288 single base substitution G A intron_variant BRCA-EU 1 183550612 183550612 single base substitution A G intron_variant BRCA-EU 1 183551184 183551184 single base substitution C T intron_variant BRCA-EU 1 183552854 183552854 single base substitution G A intron_variant BRCA-EU 1 183552856 183552856 single base substitution C T intron_variant BRCA-EU 1 183553263 183553263 single base substitution C T intron_variant BRCA-EU 1 183553706 183553706 single base substitution G A intron_variant BRCA-EU 1 183553802 183553802 single base substitution G A intron_variant BRCA-EU 1 183554004 183554004 single base substitution T C intron_variant BRCA-EU 1 183554089 183554089 single base substitution A G intron_variant BRCA-EU 1 183554695 183554695 single base substitution G T intron_variant BRCA-EU 1 183555174 183555174 single base substitution T A intron_variant BRCA-EU 1 183555631 183555631 single base substitution G A intron_variant BRCA-EU 1 183557742 183557742 single base substitution A G intron_variant BRCA-EU 1 183559371 183559371 single base substitution C T missense_variant V32I 94G>A BRCA-EU 1 183559692 183559692 single base substitution A G 5_prime_UTR_variant BRCA-EU 1 183559692 183559692 single base substitution A G intron_variant BRCA-EU 1 183559815 183559815 single base substitution C G intron_variant BRCA-EU 1 183559815 183559815 single base substitution C G upstream_gene_variant BRCA-EU 1 183560512 183560512 single base substitution G T upstream_gene_variant BRCA-EU 1 183560538 183560538 single base substitution C G upstream_gene_variant BRCA-EU 1 183560591 183560591 single base substitution T G upstream_gene_variant BRCA-EU 1 183560993 183560993 single base substitution C T upstream_gene_variant BRCA-EU 1 183562162 183562162 single base substitution G C upstream_gene_variant BRCA-EU 1 183562697 183562697 single base substitution C G upstream_gene_variant BRCA-EU 1 183562711 183562711 single base substitution C T upstream_gene_variant BRCA-EU 1 183562724 183562724 single base substitution C G upstream_gene_variant BRCA-EU 1 183563883 183563883 single base substitution A G upstream_gene_variant BRCA-EU 1 183564292 183564292 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 183564405 183564405 single base substitution C T upstream_gene_variant BRCA-EU 1 183564516 183564516 single base substitution A G upstream_gene_variant BRCA-EU 1 183564598 183564598 single base substitution G A upstream_gene_variant BRCA-EU 1 183564630 183564630 single base substitution C T upstream_gene_variant BRCA-FR 1 183522755 183522755 single base substitution C T downstream_gene_variant BRCA-FR 1 183524738 183524738 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 183524738 183524738 single base substitution G A downstream_gene_variant BRCA-FR 1 183527428 183527428 single base substitution A C downstream_gene_variant BRCA-FR 1 183527428 183527428 single base substitution A C intron_variant BRCA-FR 1 183542476 183542476 single base substitution G A intron_variant BRCA-FR 1 183542476 183542476 single base substitution G A upstream_gene_variant BRCA-FR 1 183556550 183556550 single base substitution G A intron_variant BRCA-FR 1 183564405 183564405 single base substitution C T upstream_gene_variant BRCA-KR 1 183536458 183536458 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-KR 1 183536458 183536458 single base substitution G A intron_variant BRCA-KR 1 183536458 183536458 single base substitution G A missense_variant R165C 493C>T BRCA-KR 1 183536458 183536458 single base substitution G A missense_variant R201C 601C>T BRCA-KR 1 183536458 183536458 single base substitution G A missense_variant R246C 736C>T BRCA-KR 1 183536458 183536458 single base substitution G A upstream_gene_variant BRCA-UK 1 183538622 183538622 single base substitution G C intron_variant BRCA-UK 1 183538622 183538622 single base substitution G C upstream_gene_variant BRCA-UK 1 183538742 183538742 single base substitution G C intron_variant BRCA-UK 1 183538742 183538742 single base substitution G C upstream_gene_variant BRCA-UK 1 183538963 183538963 single base substitution G A intron_variant BRCA-UK 1 183538963 183538963 single base substitution G A upstream_gene_variant BRCA-UK 1 183553263 183553263 single base substitution C T intron_variant BRCA-UK 1 183562697 183562697 single base substitution C G upstream_gene_variant BRCA-US 1 183519915 183519915 single base substitution C T downstream_gene_variant BRCA-US 1 183522252 183522252 single base substitution C G downstream_gene_variant BRCA-US 1 183525283 183525284 deletion of <=200bp TG - downstream_gene_variant BRCA-US 1 183525283 183525284 deletion of <=200bp TG - frameshift_variant T436 BRCA-US 1 183525283 183525284 deletion of <=200bp TG - frameshift_variant T472 BRCA-US 1 183525283 183525284 deletion of <=200bp TG - frameshift_variant T517 BRCA-US 1 183532637 183532637 single base substitution G A exon_variant BRCA-US 1 183532637 183532637 single base substitution G A synonymous_variant L109L 327C>T BRCA-US 1 183532637 183532637 single base substitution G A synonymous_variant L21L 63C>T BRCA-US 1 183532637 183532637 single base substitution G A synonymous_variant L289L 867C>T BRCA-US 1 183532637 183532637 single base substitution G A synonymous_variant L325L 975C>T BRCA-US 1 183532637 183532637 single base substitution G A synonymous_variant L370L 1110C>T BRCA-US 1 183534865 183534865 single base substitution G T 5_prime_UTR_variant BRCA-US 1 183534865 183534865 single base substitution G T missense_variant A244D 731C>A BRCA-US 1 183534865 183534865 single base substitution G T missense_variant A280D 839C>A BRCA-US 1 183534865 183534865 single base substitution G T missense_variant A325D 974C>A BRCA-US 1 183534865 183534865 single base substitution G T missense_variant A64D 191C>A BRCA-US 1 183534865 183534865 single base substitution G T upstream_gene_variant BRCA-US 1 183536063 183536063 single base substitution G T intron_variant BRCA-US 1 183536063 183536063 single base substitution G T missense_variant Q225K 673C>A BRCA-US 1 183536063 183536063 single base substitution G T missense_variant Q261K 781C>A BRCA-US 1 183536063 183536063 single base substitution G T missense_variant Q306K 916C>A BRCA-US 1 183536063 183536063 single base substitution G T missense_variant Q45K 133C>A BRCA-US 1 183536063 183536063 single base substitution G T upstream_gene_variant BRCA-US 1 183536371 183536371 single base substitution C G intron_variant BRCA-US 1 183536371 183536371 single base substitution C G missense_variant D14H 40G>C BRCA-US 1 183536371 183536371 single base substitution C G missense_variant D194H 580G>C BRCA-US 1 183536371 183536371 single base substitution C G missense_variant D230H 688G>C BRCA-US 1 183536371 183536371 single base substitution C G missense_variant D275H 823G>C BRCA-US 1 183536371 183536371 single base substitution C G upstream_gene_variant BRCA-US 1 183542412 183542412 single base substitution C T intron_variant BRCA-US 1 183542412 183542412 single base substitution C T missense_variant E128K 382G>A BRCA-US 1 183542412 183542412 single base substitution C T missense_variant E173K 517G>A BRCA-US 1 183542412 183542412 single base substitution C T upstream_gene_variant BRCA-US 1 183543637 183543637 single base substitution C G intron_variant BRCA-US 1 183543637 183543637 single base substitution C G synonymous_variant A162A 486G>C BRCA-US 1 183556058 183556058 single base substitution G A stop_gained R77* 229C>T BRCA-US 1 183556064 183556064 single base substitution A C missense_variant F75V 223T>G BRCA-US 1 183559438 183559438 single base substitution G C synonymous_variant L9L 27C>G BTCA-JP 1 183519997 183519997 single base substitution T C downstream_gene_variant BTCA-JP 1 183532200 183532200 single base substitution G A downstream_gene_variant BTCA-JP 1 183532200 183532200 single base substitution G A intron_variant CESC-US 1 183520229 183520229 single base substitution G A downstream_gene_variant CESC-US 1 183536381 183536381 single base substitution C T intron_variant CESC-US 1 183536381 183536381 single base substitution C T synonymous_variant K10K 30G>A CESC-US 1 183536381 183536381 single base substitution C T synonymous_variant K190K 570G>A CESC-US 1 183536381 183536381 single base substitution C T synonymous_variant K226K 678G>A CESC-US 1 183536381 183536381 single base substitution C T synonymous_variant K271K 813G>A CESC-US 1 183536381 183536381 single base substitution C T upstream_gene_variant CESC-US 1 183536404 183536404 single base substitution C T intron_variant CESC-US 1 183536404 183536404 single base substitution C T missense_variant G183R 547G>A CESC-US 1 183536404 183536404 single base substitution C T missense_variant G219R 655G>A CESC-US 1 183536404 183536404 single base substitution C T missense_variant G264R 790G>A CESC-US 1 183536404 183536404 single base substitution C T missense_variant G3R 7G>A CESC-US 1 183536404 183536404 single base substitution C T upstream_gene_variant CESC-US 1 183542373 183542373 single base substitution T A intron_variant CESC-US 1 183542373 183542373 single base substitution T A missense_variant N141Y 421A>T CESC-US 1 183542373 183542373 single base substitution T A missense_variant N186Y 556A>T CESC-US 1 183542373 183542373 single base substitution T A upstream_gene_variant COAD-US 1 183520303 183520303 single base substitution C T downstream_gene_variant COAD-US 1 183525291 183525291 single base substitution C T downstream_gene_variant COAD-US 1 183525291 183525291 single base substitution C T missense_variant A434T 1300G>A COAD-US 1 183525291 183525291 single base substitution C T missense_variant A470T 1408G>A COAD-US 1 183525291 183525291 single base substitution C T missense_variant A515T 1543G>A COAD-US 1 183525317 183525317 deletion of <=200bp A - downstream_gene_variant COAD-US 1 183525317 183525317 deletion of <=200bp A - frameshift_variant F425 COAD-US 1 183525317 183525317 deletion of <=200bp A - frameshift_variant F461 COAD-US 1 183525317 183525317 deletion of <=200bp A - frameshift_variant F506 COAD-US 1 183536350 183536350 single base substitution A G intron_variant COAD-US 1 183536350 183536350 single base substitution A G missense_variant F201L 601T>C COAD-US 1 183536350 183536350 single base substitution A G missense_variant F21L 61T>C COAD-US 1 183536350 183536350 single base substitution A G missense_variant F237L 709T>C COAD-US 1 183536350 183536350 single base substitution A G missense_variant F282L 844T>C COAD-US 1 183536350 183536350 single base substitution A G upstream_gene_variant COAD-US 1 183542387 183542387 single base substitution T C intron_variant COAD-US 1 183542387 183542387 single base substitution T C missense_variant K136R 407A>G COAD-US 1 183542387 183542387 single base substitution T C missense_variant K181R 542A>G COAD-US 1 183542387 183542387 single base substitution T C upstream_gene_variant COAD-US 1 183556091 183556091 single base substitution G T synonymous_variant R66R 196C>A COCA-CN 1 183520153 183520153 single base substitution T C downstream_gene_variant COCA-CN 1 183521283 183521283 single base substitution C T downstream_gene_variant COCA-CN 1 183522281 183522281 single base substitution C T downstream_gene_variant COCA-CN 1 183525248 183525248 single base substitution A T 3_prime_UTR_variant COCA-CN 1 183525248 183525248 single base substitution A T downstream_gene_variant COCA-CN 1 183529378 183529378 single base substitution C T downstream_gene_variant COCA-CN 1 183529378 183529378 single base substitution C T missense_variant E360K 1078G>A COCA-CN 1 183529378 183529378 single base substitution C T missense_variant E396K 1186G>A COCA-CN 1 183529378 183529378 single base substitution C T missense_variant E441K 1321G>A COCA-CN 1 183532313 183532313 single base substitution C T downstream_gene_variant COCA-CN 1 183532313 183532313 single base substitution C T intron_variant COCA-CN 1 183532601 183532601 single base substitution T C exon_variant COCA-CN 1 183532601 183532601 single base substitution T C synonymous_variant K121K 363A>G COCA-CN 1 183532601 183532601 single base substitution T C synonymous_variant K301K 903A>G COCA-CN 1 183532601 183532601 single base substitution T C synonymous_variant K337K 1011A>G COCA-CN 1 183532601 183532601 single base substitution T C synonymous_variant K33K 99A>G COCA-CN 1 183532601 183532601 single base substitution T C synonymous_variant K382K 1146A>G COCA-CN 1 183542378 183542378 single base substitution C T intron_variant COCA-CN 1 183542378 183542378 single base substitution C T missense_variant R139Q 416G>A COCA-CN 1 183542378 183542378 single base substitution C T missense_variant R184Q 551G>A COCA-CN 1 183542378 183542378 single base substitution C T upstream_gene_variant COCA-CN 1 183543774 183543774 single base substitution G A intron_variant COCA-CN 1 183546851 183546851 single base substitution C T intron_variant COCA-CN 1 183546912 183546912 single base substitution C A intron_variant COCA-CN 1 183559374 183559374 single base substitution C T missense_variant A31T 91G>A EOPC-DE 1 183561885 183561885 single base substitution C T upstream_gene_variant ESAD-UK 1 183519838 183519838 single base substitution T G downstream_gene_variant ESAD-UK 1 183521222 183521222 single base substitution G A downstream_gene_variant ESAD-UK 1 183522345 183522345 single base substitution T C downstream_gene_variant ESAD-UK 1 183522744 183522744 deletion of <=200bp C - downstream_gene_variant ESAD-UK 1 183522744 183522744 insertion of <=200bp - C downstream_gene_variant ESAD-UK 1 183523759 183523759 single base substitution T C downstream_gene_variant ESAD-UK 1 183531139 183531139 single base substitution C T downstream_gene_variant ESAD-UK 1 183531139 183531139 single base substitution C T intron_variant ESAD-UK 1 183532600 183532600 single base substitution G C exon_variant ESAD-UK 1 183532600 183532600 single base substitution G C missense_variant L122V 364C>G ESAD-UK 1 183532600 183532600 single base substitution G C missense_variant L302V 904C>G ESAD-UK 1 183532600 183532600 single base substitution G C missense_variant L338V 1012C>G ESAD-UK 1 183532600 183532600 single base substitution G C missense_variant L34V 100C>G ESAD-UK 1 183532600 183532600 single base substitution G C missense_variant L383V 1147C>G ESAD-UK 1 183533517 183533517 single base substitution C T intron_variant ESAD-UK 1 183533517 183533517 single base substitution C T upstream_gene_variant ESAD-UK 1 183535249 183535249 single base substitution A T intron_variant ESAD-UK 1 183535249 183535249 single base substitution A T upstream_gene_variant ESAD-UK 1 183535928 183535928 single base substitution G A intron_variant ESAD-UK 1 183535928 183535928 single base substitution G A upstream_gene_variant ESAD-UK 1 183538734 183538734 insertion of <=200bp - T intron_variant ESAD-UK 1 183538734 183538734 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 183539632 183539632 single base substitution G C intron_variant ESAD-UK 1 183539632 183539632 single base substitution G C upstream_gene_variant ESAD-UK 1 183544055 183544055 deletion of <=200bp A - intron_variant ESAD-UK 1 183545712 183545712 single base substitution G T intron_variant ESAD-UK 1 183547909 183547909 single base substitution G A intron_variant ESAD-UK 1 183551327 183551327 single base substitution G A intron_variant ESAD-UK 1 183553013 183553013 single base substitution A T intron_variant ESAD-UK 1 183555024 183555024 single base substitution G T intron_variant ESAD-UK 1 183559631 183559631 single base substitution G C 5_prime_UTR_variant ESAD-UK 1 183559631 183559631 single base substitution G C intron_variant ESAD-UK 1 183561782 183561782 single base substitution G T upstream_gene_variant ESAD-UK 1 183563648 183563648 single base substitution C G upstream_gene_variant ESCA-CN 1 183534935 183534935 single base substitution C T intron_variant ESCA-CN 1 183534935 183534935 single base substitution C T upstream_gene_variant GBM-US 1 183532621 183532621 single base substitution G A exon_variant GBM-US 1 183532621 183532621 single base substitution G A missense_variant R115W 343C>T GBM-US 1 183532621 183532621 single base substitution G A missense_variant R27W 79C>T GBM-US 1 183532621 183532621 single base substitution G A missense_variant R295W 883C>T GBM-US 1 183532621 183532621 single base substitution G A missense_variant R331W 991C>T GBM-US 1 183532621 183532621 single base substitution G A missense_variant R376W 1126C>T GBM-US 1 183542320 183542320 single base substitution C T intron_variant GBM-US 1 183542320 183542320 single base substitution C T splice_region_variant GBM-US 1 183542320 183542320 single base substitution C T upstream_gene_variant KIRC-US 1 183532672 183532672 single base substitution T A exon_variant KIRC-US 1 183532672 183532672 single base substitution T A stop_gained K10* 28A>T KIRC-US 1 183532672 183532672 single base substitution T A stop_gained K278* 832A>T KIRC-US 1 183532672 183532672 single base substitution T A stop_gained K314* 940A>T KIRC-US 1 183532672 183532672 single base substitution T A stop_gained K359* 1075A>T KIRC-US 1 183532672 183532672 single base substitution T A stop_gained K98* 292A>T LAML-KR 1 183527724 183527724 single base substitution A T downstream_gene_variant LAML-KR 1 183527724 183527724 single base substitution A T intron_variant LAML-KR 1 183550416 183550416 single base substitution C A intron_variant LICA-FR 1 183520245 183520245 single base substitution G A downstream_gene_variant LIHC-US 1 183532683 183532683 single base substitution T G exon_variant LIHC-US 1 183532683 183532683 single base substitution T G missense_variant K274T 821A>C LIHC-US 1 183532683 183532683 single base substitution T G missense_variant K310T 929A>C LIHC-US 1 183532683 183532683 single base substitution T G missense_variant K355T 1064A>C LIHC-US 1 183532683 183532683 single base substitution T G missense_variant K6T 17A>C LIHC-US 1 183532683 183532683 single base substitution T G missense_variant K94T 281A>C LINC-JP 1 183521602 183521602 single base substitution T C downstream_gene_variant LINC-JP 1 183522752 183522752 single base substitution G C downstream_gene_variant LINC-JP 1 183533262 183533262 single base substitution G A intron_variant LINC-JP 1 183533262 183533262 single base substitution G A upstream_gene_variant LINC-JP 1 183539481 183539481 single base substitution A G intron_variant LINC-JP 1 183539481 183539481 single base substitution A G upstream_gene_variant LINC-JP 1 183540351 183540351 single base substitution C A intron_variant LINC-JP 1 183540351 183540351 single base substitution C A upstream_gene_variant LINC-JP 1 183556159 183556159 single base substitution G T intron_variant LINC-JP 1 183563802 183563802 single base substitution C T upstream_gene_variant LIRI-JP 1 183520650 183520650 single base substitution A G downstream_gene_variant LIRI-JP 1 183520677 183520677 single base substitution A G downstream_gene_variant LIRI-JP 1 183520824 183520824 single base substitution G A downstream_gene_variant LIRI-JP 1 183522370 183522370 single base substitution G A downstream_gene_variant LIRI-JP 1 183524117 183524117 single base substitution A G downstream_gene_variant LIRI-JP 1 183526460 183526460 single base substitution G A downstream_gene_variant LIRI-JP 1 183526460 183526460 single base substitution G A intron_variant LIRI-JP 1 183526708 183526708 single base substitution T G downstream_gene_variant LIRI-JP 1 183526708 183526708 single base substitution T G intron_variant LIRI-JP 1 183527848 183527848 single base substitution C A downstream_gene_variant LIRI-JP 1 183527848 183527848 single base substitution C A intron_variant LIRI-JP 1 183529058 183529058 single base substitution A T downstream_gene_variant LIRI-JP 1 183529058 183529058 single base substitution A T intron_variant LIRI-JP 1 183530268 183530268 single base substitution T G downstream_gene_variant LIRI-JP 1 183530268 183530268 single base substitution T G intron_variant LIRI-JP 1 183531011 183531011 single base substitution T C downstream_gene_variant LIRI-JP 1 183531011 183531011 single base substitution T C intron_variant LIRI-JP 1 183531307 183531307 single base substitution G A downstream_gene_variant LIRI-JP 1 183531307 183531307 single base substitution G A intron_variant LIRI-JP 1 183539972 183539972 single base substitution G T splice_region_variant LIRI-JP 1 183539972 183539972 single base substitution G T upstream_gene_variant LIRI-JP 1 183544195 183544195 single base substitution C A intron_variant LIRI-JP 1 183544222 183544222 single base substitution A G intron_variant LIRI-JP 1 183544595 183544595 single base substitution C T intron_variant LIRI-JP 1 183545144 183545144 single base substitution G A intron_variant LIRI-JP 1 183545530 183545530 single base substitution A G intron_variant LIRI-JP 1 183546437 183546437 single base substitution C A intron_variant LIRI-JP 1 183548628 183548628 single base substitution G A intron_variant LIRI-JP 1 183550343 183550343 single base substitution G A intron_variant LIRI-JP 1 183550866 183550866 single base substitution C T intron_variant LIRI-JP 1 183552545 183552545 single base substitution C A intron_variant LIRI-JP 1 183552757 183552757 single base substitution G A intron_variant LIRI-JP 1 183552842 183552842 single base substitution A G intron_variant LIRI-JP 1 183553742 183553742 single base substitution C T intron_variant LIRI-JP 1 183554255 183554255 single base substitution G T intron_variant LIRI-JP 1 183558088 183558088 single base substitution A G intron_variant LIRI-JP 1 183559219 183559219 single base substitution G T intron_variant LIRI-JP 1 183559526 183559526 single base substitution G A 5_prime_UTR_variant LIRI-JP 1 183559526 183559526 single base substitution G A intron_variant LIRI-JP 1 183560578 183560578 single base substitution T C upstream_gene_variant LIRI-JP 1 183561178 183561178 single base substitution A G upstream_gene_variant LIRI-JP 1 183561352 183561352 single base substitution T C upstream_gene_variant LUSC-KR 1 183520502 183520502 single base substitution A C downstream_gene_variant LUSC-KR 1 183524206 183524206 single base substitution G A downstream_gene_variant LUSC-KR 1 183531580 183531580 single base substitution A C downstream_gene_variant LUSC-KR 1 183531580 183531580 single base substitution A C intron_variant LUSC-KR 1 183532087 183532087 single base substitution G T downstream_gene_variant LUSC-KR 1 183532087 183532087 single base substitution G T intron_variant LUSC-KR 1 183542945 183542945 single base substitution G C intron_variant LUSC-KR 1 183542945 183542945 single base substitution G C upstream_gene_variant LUSC-KR 1 183547227 183547227 single base substitution T G intron_variant LUSC-KR 1 183547999 183547999 single base substitution A G intron_variant LUSC-KR 1 183556643 183556643 single base substitution C A intron_variant LUSC-KR 1 183557578 183557578 single base substitution C G intron_variant LUSC-KR 1 183558215 183558215 single base substitution A G intron_variant LUSC-US 1 183520990 183520990 single base substitution C T downstream_gene_variant LUSC-US 1 183525256 183525256 single base substitution G C downstream_gene_variant LUSC-US 1 183525256 183525256 single base substitution G C synonymous_variant V445V 1335C>G LUSC-US 1 183525256 183525256 single base substitution G C synonymous_variant V481V 1443C>G LUSC-US 1 183525256 183525256 single base substitution G C synonymous_variant V526V 1578C>G LUSC-US 1 183532587 183532587 single base substitution A C exon_variant LUSC-US 1 183532587 183532587 single base substitution A C missense_variant L126R 377T>G LUSC-US 1 183532587 183532587 single base substitution A C missense_variant L306R 917T>G LUSC-US 1 183532587 183532587 single base substitution A C missense_variant L342R 1025T>G LUSC-US 1 183532587 183532587 single base substitution A C missense_variant L387R 1160T>G LUSC-US 1 183532587 183532587 single base substitution A C missense_variant L38R 113T>G LUSC-US 1 183543638 183543638 single base substitution G T intron_variant LUSC-US 1 183543638 183543638 single base substitution G T missense_variant A162E 485C>A LUSC-US 1 183543663 183543663 single base substitution G T intron_variant LUSC-US 1 183543663 183543663 single base substitution G T missense_variant P154T 460C>A LUSC-US 1 183559390 183559390 single base substitution G T synonymous_variant A25A 75C>A MALY-DE 1 183521058 183521058 single base substitution C T downstream_gene_variant MALY-DE 1 183523628 183523628 single base substitution A G downstream_gene_variant MALY-DE 1 183544576 183544576 insertion of <=200bp - G intron_variant MALY-DE 1 183547160 183547160 single base substitution G A intron_variant MALY-DE 1 183547566 183547566 single base substitution C T intron_variant MALY-DE 1 183548694 183548694 single base substitution T G intron_variant MALY-DE 1 183549204 183549204 insertion of <=200bp - AGTC intron_variant MALY-DE 1 183554217 183554217 single base substitution A C intron_variant MALY-DE 1 183557644 183557644 single base substitution A C intron_variant MALY-DE 1 183558719 183558719 single base substitution G T intron_variant MELA-AU 1 183519829 183519829 single base substitution C T downstream_gene_variant MELA-AU 1 183519946 183519946 single base substitution C T downstream_gene_variant MELA-AU 1 183520072 183520072 single base substitution C T downstream_gene_variant MELA-AU 1 183520897 183520897 single base substitution C T downstream_gene_variant MELA-AU 1 183521119 183521119 single base substitution T C downstream_gene_variant MELA-AU 1 183521142 183521142 single base substitution C T downstream_gene_variant MELA-AU 1 183521267 183521267 single base substitution C T downstream_gene_variant MELA-AU 1 183521359 183521359 single base substitution C T downstream_gene_variant MELA-AU 1 183521446 183521446 single base substitution C T downstream_gene_variant MELA-AU 1 183521449 183521449 single base substitution C T downstream_gene_variant MELA-AU 1 183521531 183521531 single base substitution T A downstream_gene_variant MELA-AU 1 183521688 183521688 single base substitution C T downstream_gene_variant MELA-AU 1 183521692 183521692 single base substitution A G downstream_gene_variant MELA-AU 1 183521784 183521784 single base substitution C T downstream_gene_variant MELA-AU 1 183521790 183521790 single base substitution C T downstream_gene_variant MELA-AU 1 183521856 183521856 single base substitution C T downstream_gene_variant MELA-AU 1 183521861 183521861 single base substitution T G downstream_gene_variant MELA-AU 1 183522024 183522024 single base substitution T G downstream_gene_variant MELA-AU 1 183522240 183522240 single base substitution C T downstream_gene_variant MELA-AU 1 183522492 183522492 single base substitution T C downstream_gene_variant MELA-AU 1 183522842 183522842 single base substitution C T downstream_gene_variant MELA-AU 1 183523028 183523028 single base substitution C T downstream_gene_variant MELA-AU 1 183523235 183523235 single base substitution T C downstream_gene_variant MELA-AU 1 183523446 183523446 single base substitution T G downstream_gene_variant MELA-AU 1 183523797 183523797 single base substitution C T downstream_gene_variant MELA-AU 1 183524345 183524346 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 183524641 183524641 single base substitution T C downstream_gene_variant MELA-AU 1 183525010 183525010 single base substitution C T 3_prime_UTR_variant MELA-AU 1 183525010 183525010 single base substitution C T downstream_gene_variant MELA-AU 1 183525076 183525076 single base substitution C T 3_prime_UTR_variant MELA-AU 1 183525076 183525076 single base substitution C T downstream_gene_variant MELA-AU 1 183525088 183525088 single base substitution C T 3_prime_UTR_variant MELA-AU 1 183525088 183525088 single base substitution C T downstream_gene_variant MELA-AU 1 183525229 183525229 single base substitution C T 3_prime_UTR_variant MELA-AU 1 183525229 183525229 single base substitution C T downstream_gene_variant MELA-AU 1 183525340 183525340 single base substitution C G downstream_gene_variant MELA-AU 1 183525340 183525340 single base substitution C G missense_variant E417D 1251G>C MELA-AU 1 183525340 183525340 single base substitution C G missense_variant E453D 1359G>C MELA-AU 1 183525340 183525340 single base substitution C G missense_variant E498D 1494G>C MELA-AU 1 183525457 183525457 single base substitution C T downstream_gene_variant MELA-AU 1 183525457 183525457 single base substitution C T intron_variant MELA-AU 1 183525535 183525535 single base substitution C T downstream_gene_variant MELA-AU 1 183525535 183525535 single base substitution C T intron_variant MELA-AU 1 183525673 183525673 single base substitution C T downstream_gene_variant MELA-AU 1 183525673 183525673 single base substitution C T intron_variant MELA-AU 1 183526353 183526353 single base substitution C T downstream_gene_variant MELA-AU 1 183526353 183526353 single base substitution C T intron_variant MELA-AU 1 183526587 183526587 single base substitution C T downstream_gene_variant MELA-AU 1 183526587 183526587 single base substitution C T intron_variant MELA-AU 1 183527416 183527416 single base substitution T G downstream_gene_variant MELA-AU 1 183527416 183527416 single base substitution T G intron_variant MELA-AU 1 183527491 183527491 single base substitution C T downstream_gene_variant MELA-AU 1 183527491 183527491 single base substitution C T intron_variant MELA-AU 1 183527601 183527601 single base substitution C T downstream_gene_variant MELA-AU 1 183527601 183527601 single base substitution C T intron_variant MELA-AU 1 183528022 183528022 single base substitution C T downstream_gene_variant MELA-AU 1 183528022 183528022 single base substitution C T intron_variant MELA-AU 1 183528253 183528253 single base substitution C T downstream_gene_variant MELA-AU 1 183528253 183528253 single base substitution C T intron_variant MELA-AU 1 183528394 183528394 single base substitution C T downstream_gene_variant MELA-AU 1 183528394 183528394 single base substitution C T intron_variant MELA-AU 1 183528876 183528876 single base substitution C T downstream_gene_variant MELA-AU 1 183528876 183528876 single base substitution C T intron_variant MELA-AU 1 183529445 183529445 single base substitution C T downstream_gene_variant MELA-AU 1 183529445 183529445 single base substitution C T intron_variant MELA-AU 1 183529929 183529929 single base substitution C T downstream_gene_variant MELA-AU 1 183529929 183529929 single base substitution C T intron_variant MELA-AU 1 183530163 183530163 single base substitution G A downstream_gene_variant MELA-AU 1 183530163 183530163 single base substitution G A intron_variant MELA-AU 1 183530240 183530240 single base substitution A G downstream_gene_variant MELA-AU 1 183530240 183530240 single base substitution A G intron_variant MELA-AU 1 183530433 183530433 single base substitution A G downstream_gene_variant MELA-AU 1 183530433 183530433 single base substitution A G intron_variant MELA-AU 1 183531223 183531223 single base substitution C T downstream_gene_variant MELA-AU 1 183531223 183531223 single base substitution C T intron_variant MELA-AU 1 183531418 183531418 single base substitution C T downstream_gene_variant MELA-AU 1 183531418 183531418 single base substitution C T intron_variant MELA-AU 1 183531594 183531594 single base substitution C T downstream_gene_variant MELA-AU 1 183531594 183531594 single base substitution C T intron_variant MELA-AU 1 183531609 183531609 single base substitution C T downstream_gene_variant MELA-AU 1 183531609 183531609 single base substitution C T intron_variant MELA-AU 1 183531680 183531680 single base substitution C T downstream_gene_variant MELA-AU 1 183531680 183531680 single base substitution C T intron_variant MELA-AU 1 183531735 183531735 single base substitution C T downstream_gene_variant MELA-AU 1 183531735 183531735 single base substitution C T intron_variant MELA-AU 1 183531765 183531765 single base substitution C T downstream_gene_variant MELA-AU 1 183531765 183531765 single base substitution C T intron_variant MELA-AU 1 183532847 183532847 single base substitution A G exon_variant MELA-AU 1 183532847 183532847 single base substitution A G intron_variant MELA-AU 1 183532883 183532883 single base substitution C T exon_variant MELA-AU 1 183532883 183532883 single base substitution C T intron_variant MELA-AU 1 183533042 183533042 single base substitution T C exon_variant MELA-AU 1 183533042 183533042 single base substitution T C intron_variant MELA-AU 1 183533319 183533319 single base substitution G A intron_variant MELA-AU 1 183533319 183533319 single base substitution G A upstream_gene_variant MELA-AU 1 183533422 183533422 single base substitution C T intron_variant MELA-AU 1 183533422 183533422 single base substitution C T upstream_gene_variant MELA-AU 1 183533451 183533451 single base substitution C T intron_variant MELA-AU 1 183533451 183533451 single base substitution C T upstream_gene_variant MELA-AU 1 183533824 183533824 single base substitution C T intron_variant MELA-AU 1 183533824 183533824 single base substitution C T upstream_gene_variant MELA-AU 1 183535147 183535147 single base substitution C T intron_variant MELA-AU 1 183535147 183535147 single base substitution C T upstream_gene_variant MELA-AU 1 183535198 183535198 single base substitution C T intron_variant MELA-AU 1 183535198 183535198 single base substitution C T upstream_gene_variant MELA-AU 1 183535526 183535526 single base substitution C T intron_variant MELA-AU 1 183535526 183535526 single base substitution C T upstream_gene_variant MELA-AU 1 183535870 183535871 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 183535870 183535871 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 183535881 183535881 single base substitution C T intron_variant MELA-AU 1 183535881 183535881 single base substitution C T upstream_gene_variant MELA-AU 1 183535889 183535889 single base substitution C T intron_variant MELA-AU 1 183535889 183535889 single base substitution C T upstream_gene_variant MELA-AU 1 183535951 183535951 single base substitution C T intron_variant MELA-AU 1 183535951 183535951 single base substitution C T upstream_gene_variant MELA-AU 1 183536034 183536034 single base substitution C T intron_variant MELA-AU 1 183536034 183536034 single base substitution C T upstream_gene_variant MELA-AU 1 183536197 183536198 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 183536197 183536198 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 183536468 183536468 single base substitution C G 5_prime_UTR_variant MELA-AU 1 183536468 183536468 single base substitution C G intron_variant MELA-AU 1 183536468 183536468 single base substitution C G synonymous_variant G161G 483G>C MELA-AU 1 183536468 183536468 single base substitution C G synonymous_variant G197G 591G>C MELA-AU 1 183536468 183536468 single base substitution C G synonymous_variant G242G 726G>C MELA-AU 1 183536468 183536468 single base substitution C G upstream_gene_variant MELA-AU 1 183536743 183536743 single base substitution C T intron_variant MELA-AU 1 183536743 183536743 single base substitution C T upstream_gene_variant MELA-AU 1 183537045 183537045 single base substitution C T intron_variant MELA-AU 1 183537045 183537045 single base substitution C T upstream_gene_variant MELA-AU 1 183537141 183537141 single base substitution C T intron_variant MELA-AU 1 183537141 183537141 single base substitution C T upstream_gene_variant MELA-AU 1 183537198 183537198 single base substitution C T intron_variant MELA-AU 1 183537198 183537198 single base substitution C T upstream_gene_variant MELA-AU 1 183537726 183537726 single base substitution C T intron_variant MELA-AU 1 183537726 183537726 single base substitution C T upstream_gene_variant MELA-AU 1 183537987 183537987 single base substitution G A intron_variant MELA-AU 1 183537987 183537987 single base substitution G A upstream_gene_variant MELA-AU 1 183538121 183538121 single base substitution C T intron_variant MELA-AU 1 183538121 183538121 single base substitution C T upstream_gene_variant MELA-AU 1 183538469 183538469 single base substitution G A intron_variant MELA-AU 1 183538469 183538469 single base substitution G A upstream_gene_variant MELA-AU 1 183538499 183538499 single base substitution G A intron_variant MELA-AU 1 183538499 183538499 single base substitution G A upstream_gene_variant MELA-AU 1 183539076 183539076 single base substitution C T intron_variant MELA-AU 1 183539076 183539076 single base substitution C T upstream_gene_variant MELA-AU 1 183539310 183539310 single base substitution C T intron_variant MELA-AU 1 183539310 183539310 single base substitution C T upstream_gene_variant MELA-AU 1 183539468 183539468 single base substitution G A intron_variant MELA-AU 1 183539468 183539468 single base substitution G A upstream_gene_variant MELA-AU 1 183539613 183539613 single base substitution G A intron_variant MELA-AU 1 183539613 183539613 single base substitution G A upstream_gene_variant MELA-AU 1 183539814 183539814 single base substitution C T intron_variant MELA-AU 1 183539814 183539814 single base substitution C T upstream_gene_variant MELA-AU 1 183539863 183539863 single base substitution C T intron_variant MELA-AU 1 183539863 183539863 single base substitution C T upstream_gene_variant MELA-AU 1 183539985 183539985 single base substitution G A intron_variant MELA-AU 1 183539985 183539985 single base substitution G A upstream_gene_variant MELA-AU 1 183540151 183540151 single base substitution G A intron_variant MELA-AU 1 183540151 183540151 single base substitution G A upstream_gene_variant MELA-AU 1 183540376 183540376 single base substitution C T intron_variant MELA-AU 1 183540376 183540376 single base substitution C T upstream_gene_variant MELA-AU 1 183540992 183540992 single base substitution C T intron_variant MELA-AU 1 183540992 183540992 single base substitution C T upstream_gene_variant MELA-AU 1 183541069 183541069 single base substitution C T intron_variant MELA-AU 1 183541069 183541069 single base substitution C T upstream_gene_variant MELA-AU 1 183541101 183541101 single base substitution G A intron_variant MELA-AU 1 183541101 183541101 single base substitution G A upstream_gene_variant MELA-AU 1 183541102 183541102 single base substitution G A intron_variant MELA-AU 1 183541102 183541102 single base substitution G A upstream_gene_variant MELA-AU 1 183541312 183541312 single base substitution G A intron_variant MELA-AU 1 183541312 183541312 single base substitution G A upstream_gene_variant MELA-AU 1 183541574 183541574 single base substitution C T intron_variant MELA-AU 1 183541574 183541574 single base substitution C T upstream_gene_variant MELA-AU 1 183541785 183541785 single base substitution A T intron_variant MELA-AU 1 183541785 183541785 single base substitution A T upstream_gene_variant MELA-AU 1 183541809 183541809 single base substitution C T intron_variant MELA-AU 1 183541809 183541809 single base substitution C T upstream_gene_variant MELA-AU 1 183542228 183542228 single base substitution G A intron_variant MELA-AU 1 183542228 183542228 single base substitution G A upstream_gene_variant MELA-AU 1 183542245 183542245 single base substitution C T intron_variant MELA-AU 1 183542245 183542245 single base substitution C T upstream_gene_variant MELA-AU 1 183542252 183542252 single base substitution C T intron_variant MELA-AU 1 183542252 183542252 single base substitution C T upstream_gene_variant MELA-AU 1 183542319 183542319 single base substitution C T intron_variant MELA-AU 1 183542319 183542319 single base substitution C T splice_donor_variant MELA-AU 1 183542319 183542319 single base substitution C T upstream_gene_variant MELA-AU 1 183542607 183542607 single base substitution C T intron_variant MELA-AU 1 183542607 183542607 single base substitution C T upstream_gene_variant MELA-AU 1 183542898 183542898 single base substitution G A intron_variant MELA-AU 1 183542898 183542898 single base substitution G A upstream_gene_variant MELA-AU 1 183543009 183543009 single base substitution G A intron_variant MELA-AU 1 183543009 183543009 single base substitution G A upstream_gene_variant MELA-AU 1 183543119 183543120 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 183543119 183543120 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 183543193 183543193 single base substitution C T intron_variant MELA-AU 1 183543193 183543193 single base substitution C T upstream_gene_variant MELA-AU 1 183543369 183543369 single base substitution C T intron_variant MELA-AU 1 183543378 183543378 single base substitution C T intron_variant MELA-AU 1 183543561 183543561 single base substitution C T intron_variant MELA-AU 1 183543633 183543633 single base substitution C T intron_variant MELA-AU 1 183543633 183543633 single base substitution C T missense_variant E164K 490G>A MELA-AU 1 183543724 183543724 single base substitution C T intron_variant MELA-AU 1 183543724 183543724 single base substitution C T synonymous_variant K133K 399G>A MELA-AU 1 183543801 183543801 single base substitution A G intron_variant MELA-AU 1 183543803 183543803 single base substitution C T intron_variant MELA-AU 1 183543881 183543882 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 183544051 183544051 single base substitution G A intron_variant MELA-AU 1 183544753 183544753 single base substitution G A intron_variant MELA-AU 1 183544762 183544762 single base substitution G A intron_variant MELA-AU 1 183544835 183544835 single base substitution T A intron_variant MELA-AU 1 183544897 183544897 single base substitution T A intron_variant MELA-AU 1 183544956 183544956 single base substitution G A intron_variant MELA-AU 1 183545073 183545088 deletion of <=200bp ACTGCCTTCTGAATTC - intron_variant MELA-AU 1 183545088 183545088 single base substitution C T intron_variant MELA-AU 1 183545365 183545365 single base substitution C T intron_variant MELA-AU 1 183545489 183545489 single base substitution C T intron_variant MELA-AU 1 183545780 183545780 single base substitution C T intron_variant MELA-AU 1 183546148 183546148 single base substitution G A intron_variant MELA-AU 1 183546335 183546336 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 1 183546608 183546608 single base substitution G A intron_variant MELA-AU 1 183547034 183547034 single base substitution C T intron_variant MELA-AU 1 183547035 183547035 single base substitution C T intron_variant MELA-AU 1 183547063 183547063 single base substitution G A intron_variant MELA-AU 1 183547537 183547537 single base substitution G A intron_variant MELA-AU 1 183547770 183547770 single base substitution G A intron_variant MELA-AU 1 183547791 183547791 single base substitution C T intron_variant MELA-AU 1 183547870 183547870 single base substitution G A intron_variant MELA-AU 1 183548024 183548024 single base substitution G A intron_variant MELA-AU 1 183548055 183548055 single base substitution G A intron_variant MELA-AU 1 183548495 183548495 single base substitution C T intron_variant MELA-AU 1 183548640 183548640 single base substitution T A intron_variant MELA-AU 1 183548720 183548720 single base substitution A T intron_variant MELA-AU 1 183548782 183548782 single base substitution G A intron_variant MELA-AU 1 183549234 183549234 single base substitution G C intron_variant MELA-AU 1 183549316 183549316 single base substitution G A intron_variant MELA-AU 1 183549399 183549399 single base substitution C T intron_variant MELA-AU 1 183549646 183549646 single base substitution G A intron_variant MELA-AU 1 183550043 183550043 single base substitution G A intron_variant MELA-AU 1 183550467 183550467 single base substitution C T intron_variant MELA-AU 1 183550506 183550506 single base substitution C T intron_variant MELA-AU 1 183550615 183550615 single base substitution G A intron_variant MELA-AU 1 183550882 183550882 single base substitution G A intron_variant MELA-AU 1 183550961 183550962 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 183551024 183551024 single base substitution G A intron_variant MELA-AU 1 183551136 183551136 single base substitution C G intron_variant MELA-AU 1 183551155 183551155 single base substitution C T intron_variant MELA-AU 1 183551292 183551292 single base substitution C T intron_variant MELA-AU 1 183551402 183551403 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 183551524 183551525 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 183551529 183551529 single base substitution C T intron_variant MELA-AU 1 183551551 183551551 single base substitution C T intron_variant MELA-AU 1 183551913 183551913 single base substitution C T intron_variant MELA-AU 1 183551942 183551942 single base substitution C T intron_variant MELA-AU 1 183552105 183552105 single base substitution G A intron_variant MELA-AU 1 183552186 183552186 single base substitution G A intron_variant MELA-AU 1 183552191 183552191 single base substitution C T intron_variant MELA-AU 1 183552381 183552381 single base substitution G A intron_variant MELA-AU 1 183552385 183552385 single base substitution C T intron_variant MELA-AU 1 183552433 183552433 single base substitution C T intron_variant MELA-AU 1 183552446 183552446 single base substitution C T intron_variant MELA-AU 1 183552451 183552451 single base substitution A G intron_variant MELA-AU 1 183552498 183552498 single base substitution G A intron_variant MELA-AU 1 183552640 183552640 single base substitution A G intron_variant MELA-AU 1 183552645 183552645 single base substitution C T intron_variant MELA-AU 1 183552757 183552757 single base substitution G A intron_variant MELA-AU 1 183552833 183552833 single base substitution G A intron_variant MELA-AU 1 183552984 183552984 single base substitution G T intron_variant MELA-AU 1 183553053 183553053 single base substitution G A intron_variant MELA-AU 1 183553355 183553355 single base substitution C T intron_variant MELA-AU 1 183553408 183553408 single base substitution A G intron_variant MELA-AU 1 183553431 183553431 single base substitution G A intron_variant MELA-AU 1 183553436 183553436 single base substitution G A intron_variant MELA-AU 1 183553450 183553450 single base substitution A G intron_variant MELA-AU 1 183553572 183553572 single base substitution C T intron_variant MELA-AU 1 183553602 183553602 single base substitution C T intron_variant MELA-AU 1 183553646 183553646 single base substitution G A intron_variant MELA-AU 1 183553710 183553710 single base substitution G A intron_variant MELA-AU 1 183553898 183553898 single base substitution G A intron_variant MELA-AU 1 183553908 183553908 single base substitution G A intron_variant MELA-AU 1 183554160 183554160 single base substitution C T intron_variant MELA-AU 1 183554236 183554237 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 183554471 183554471 single base substitution C T intron_variant MELA-AU 1 183554559 183554559 single base substitution G A intron_variant MELA-AU 1 183554642 183554642 single base substitution C T intron_variant MELA-AU 1 183554747 183554747 single base substitution G A intron_variant MELA-AU 1 183554855 183554855 single base substitution C T intron_variant MELA-AU 1 183554898 183554898 single base substitution C T intron_variant MELA-AU 1 183554967 183554967 single base substitution G A intron_variant MELA-AU 1 183555471 183555471 single base substitution G A intron_variant MELA-AU 1 183555675 183555675 single base substitution C T intron_variant MELA-AU 1 183556050 183556050 single base substitution C A missense_variant M79I 237G>T MELA-AU 1 183556062 183556062 single base substitution G A synonymous_variant F75F 225C>T MELA-AU 1 183556505 183556505 single base substitution G A intron_variant MELA-AU 1 183556534 183556534 single base substitution A G intron_variant MELA-AU 1 183556639 183556639 single base substitution C T intron_variant MELA-AU 1 183556664 183556664 single base substitution G A intron_variant MELA-AU 1 183556863 183556863 single base substitution C T intron_variant MELA-AU 1 183557056 183557056 single base substitution C T intron_variant MELA-AU 1 183557432 183557432 single base substitution G A intron_variant MELA-AU 1 183557537 183557537 single base substitution G A intron_variant MELA-AU 1 183557899 183557899 single base substitution G A intron_variant MELA-AU 1 183558176 183558176 single base substitution C T intron_variant MELA-AU 1 183558284 183558284 single base substitution G T intron_variant MELA-AU 1 183558572 183558572 single base substitution G A intron_variant MELA-AU 1 183558709 183558709 single base substitution C T intron_variant MELA-AU 1 183559097 183559097 single base substitution C T intron_variant MELA-AU 1 183559284 183559284 single base substitution C T intron_variant MELA-AU 1 183559284 183559284 single base substitution C T splice_region_variant MELA-AU 1 183559306 183559306 single base substitution C T missense_variant M53I 159G>A MELA-AU 1 183559533 183559533 single base substitution C T 5_prime_UTR_variant MELA-AU 1 183559533 183559533 single base substitution C T intron_variant MELA-AU 1 183559608 183559608 single base substitution C T 5_prime_UTR_variant MELA-AU 1 183559608 183559608 single base substitution C T intron_variant MELA-AU 1 183559775 183559775 single base substitution G A intron_variant MELA-AU 1 183559775 183559775 single base substitution G A upstream_gene_variant MELA-AU 1 183560294 183560294 single base substitution C G upstream_gene_variant MELA-AU 1 183560423 183560423 single base substitution C T upstream_gene_variant MELA-AU 1 183560469 183560469 single base substitution C T upstream_gene_variant MELA-AU 1 183560603 183560603 single base substitution G A upstream_gene_variant MELA-AU 1 183560740 183560740 single base substitution C T upstream_gene_variant MELA-AU 1 183560757 183560757 single base substitution A T upstream_gene_variant MELA-AU 1 183561369 183561369 single base substitution G A upstream_gene_variant MELA-AU 1 183561580 183561580 single base substitution C T upstream_gene_variant MELA-AU 1 183561725 183561725 single base substitution G A upstream_gene_variant MELA-AU 1 183562146 183562146 single base substitution G A upstream_gene_variant MELA-AU 1 183562231 183562231 single base substitution C T upstream_gene_variant MELA-AU 1 183562373 183562373 single base substitution C T upstream_gene_variant MELA-AU 1 183562619 183562619 single base substitution C T upstream_gene_variant MELA-AU 1 183562917 183562917 single base substitution C T upstream_gene_variant MELA-AU 1 183563009 183563009 single base substitution G A upstream_gene_variant MELA-AU 1 183563037 183563037 single base substitution G A upstream_gene_variant MELA-AU 1 183563152 183563152 single base substitution G A upstream_gene_variant MELA-AU 1 183563154 183563154 single base substitution G A upstream_gene_variant MELA-AU 1 183563196 183563196 single base substitution G A upstream_gene_variant MELA-AU 1 183563322 183563322 single base substitution C T upstream_gene_variant MELA-AU 1 183563412 183563412 single base substitution A C upstream_gene_variant MELA-AU 1 183563811 183563811 single base substitution T G upstream_gene_variant MELA-AU 1 183563899 183563899 single base substitution G A upstream_gene_variant MELA-AU 1 183564084 183564084 single base substitution G A upstream_gene_variant MELA-AU 1 183564173 183564173 single base substitution G A upstream_gene_variant MELA-AU 1 183564279 183564279 single base substitution G A upstream_gene_variant MELA-AU 1 183564329 183564329 single base substitution C T upstream_gene_variant MELA-AU 1 183564902 183564902 single base substitution C T upstream_gene_variant MELA-AU 1 183564958 183564958 single base substitution C T upstream_gene_variant OV-AU 1 183520393 183520393 single base substitution T C downstream_gene_variant OV-AU 1 183530408 183530408 single base substitution C T downstream_gene_variant OV-AU 1 183530408 183530408 single base substitution C T intron_variant OV-AU 1 183530796 183530796 single base substitution G C downstream_gene_variant OV-AU 1 183530796 183530796 single base substitution G C intron_variant OV-AU 1 183532318 183532318 single base substitution C G downstream_gene_variant OV-AU 1 183532318 183532318 single base substitution C G intron_variant OV-AU 1 183536421 183536423 deletion of <=200bp TCT - 5_prime_UTR_variant OV-AU 1 183536421 183536423 deletion of <=200bp TCT - disruptive_inframe_deletion EE176E OV-AU 1 183536421 183536423 deletion of <=200bp TCT - disruptive_inframe_deletion EE212E OV-AU 1 183536421 183536423 deletion of <=200bp TCT - disruptive_inframe_deletion EE257E OV-AU 1 183536421 183536423 deletion of <=200bp TCT - intron_variant OV-AU 1 183536421 183536423 deletion of <=200bp TCT - upstream_gene_variant OV-AU 1 183542490 183542490 single base substitution C T intron_variant OV-AU 1 183542490 183542490 single base substitution C T upstream_gene_variant OV-AU 1 183543211 183543211 single base substitution C T intron_variant OV-AU 1 183543211 183543211 single base substitution C T upstream_gene_variant OV-AU 1 183543886 183543886 single base substitution A G intron_variant OV-AU 1 183545832 183545832 single base substitution G C intron_variant OV-AU 1 183547586 183547586 single base substitution A T intron_variant OV-AU 1 183549664 183549664 single base substitution C T intron_variant OV-AU 1 183550983 183550983 single base substitution T C intron_variant OV-AU 1 183554402 183554402 single base substitution C T intron_variant OV-AU 1 183555200 183555200 single base substitution T C intron_variant OV-AU 1 183556234 183556234 single base substitution C T intron_variant OV-AU 1 183562880 183562880 single base substitution T C upstream_gene_variant OV-US 1 183543622 183543622 single base substitution C G intron_variant OV-US 1 183543622 183543622 single base substitution C G missense_variant W167C 501G>C OV-US 1 183543675 183543675 single base substitution T C intron_variant OV-US 1 183543675 183543675 single base substitution T C missense_variant M150V 448A>G PACA-AU 1 183523894 183523894 single base substitution T G downstream_gene_variant PACA-AU 1 183526851 183526851 single base substitution C A downstream_gene_variant PACA-AU 1 183526851 183526851 single base substitution C A intron_variant PACA-AU 1 183534306 183534306 single base substitution C T intron_variant PACA-AU 1 183534306 183534306 single base substitution C T upstream_gene_variant PACA-AU 1 183537588 183537588 single base substitution C A intron_variant PACA-AU 1 183537588 183537588 single base substitution C A upstream_gene_variant PACA-AU 1 183540089 183540089 single base substitution G T intron_variant PACA-AU 1 183540089 183540089 single base substitution G T upstream_gene_variant PACA-AU 1 183540738 183540738 single base substitution T G intron_variant PACA-AU 1 183540738 183540738 single base substitution T G upstream_gene_variant PACA-AU 1 183542072 183542072 single base substitution C T intron_variant PACA-AU 1 183542072 183542072 single base substitution C T upstream_gene_variant PACA-AU 1 183542095 183542095 single base substitution A G intron_variant PACA-AU 1 183542095 183542095 single base substitution A G upstream_gene_variant PACA-AU 1 183542475 183542475 single base substitution C T intron_variant PACA-AU 1 183542475 183542475 single base substitution C T upstream_gene_variant PACA-AU 1 183544931 183544931 single base substitution G A intron_variant PACA-AU 1 183548580 183548580 single base substitution G A intron_variant PACA-AU 1 183550897 183550897 single base substitution G A intron_variant PACA-AU 1 183551378 183551378 single base substitution G A intron_variant PACA-AU 1 183552180 183552180 single base substitution C A intron_variant PACA-AU 1 183552211 183552211 single base substitution A T intron_variant PACA-AU 1 183552447 183552447 single base substitution C T intron_variant PACA-AU 1 183557621 183557621 single base substitution A G intron_variant PACA-CA 1 183522320 183522320 single base substitution G A downstream_gene_variant PACA-CA 1 183524497 183524497 single base substitution C T downstream_gene_variant PACA-CA 1 183525390 183525390 single base substitution G A downstream_gene_variant PACA-CA 1 183525390 183525390 single base substitution G A intron_variant PACA-CA 1 183530825 183530825 single base substitution G T downstream_gene_variant PACA-CA 1 183530825 183530825 single base substitution G T intron_variant PACA-CA 1 183531119 183531119 single base substitution G A downstream_gene_variant PACA-CA 1 183531119 183531119 single base substitution G A intron_variant PACA-CA 1 183531868 183531868 single base substitution T G downstream_gene_variant PACA-CA 1 183531868 183531868 single base substitution T G intron_variant PACA-CA 1 183538733 183538733 single base substitution A T intron_variant PACA-CA 1 183538733 183538733 single base substitution A T upstream_gene_variant PACA-CA 1 183542468 183542468 single base substitution G A intron_variant PACA-CA 1 183542468 183542468 single base substitution G A upstream_gene_variant PACA-CA 1 183544945 183544945 single base substitution C T intron_variant PACA-CA 1 183546161 183546161 deletion of <=200bp A - intron_variant PACA-CA 1 183547853 183547853 single base substitution G A intron_variant PACA-CA 1 183548030 183548030 single base substitution G C intron_variant PACA-CA 1 183548235 183548235 single base substitution G T intron_variant PACA-CA 1 183551290 183551290 insertion of <=200bp - C intron_variant PACA-CA 1 183554130 183554130 single base substitution G A intron_variant PACA-CA 1 183558605 183558605 single base substitution C A intron_variant PACA-CA 1 183561799 183561799 single base substitution T C upstream_gene_variant PACA-CA 1 183562104 183562104 single base substitution C A upstream_gene_variant PACA-CA 1 183562337 183562337 single base substitution C G upstream_gene_variant PACA-CA 1 183562490 183562490 single base substitution C A upstream_gene_variant PACA-CA 1 183564769 183564769 single base substitution G A upstream_gene_variant PAEN-AU 1 183520682 183520682 single base substitution A G downstream_gene_variant PAEN-AU 1 183524123 183524123 single base substitution G A downstream_gene_variant PAEN-AU 1 183545590 183545590 single base substitution G T intron_variant PAEN-AU 1 183564130 183564130 single base substitution G A upstream_gene_variant PBCA-DE 1 183522801 183522801 deletion of <=200bp T - downstream_gene_variant PBCA-DE 1 183528999 183528999 deletion of <=200bp C - downstream_gene_variant PBCA-DE 1 183528999 183528999 deletion of <=200bp C - intron_variant PBCA-DE 1 183535928 183535928 single base substitution G A intron_variant PBCA-DE 1 183535928 183535928 single base substitution G A upstream_gene_variant PBCA-DE 1 183543273 183543273 single base substitution G T intron_variant PBCA-DE 1 183543273 183543273 single base substitution G T upstream_gene_variant PBCA-DE 1 183543657 183543657 single base substitution G A intron_variant PBCA-DE 1 183543657 183543657 single base substitution G A missense_variant H156Y 466C>T PBCA-DE 1 183548383 183548383 single base substitution C G intron_variant PBCA-DE 1 183554363 183554363 single base substitution C T intron_variant PBCA-DE 1 183562167 183562167 single base substitution C T upstream_gene_variant PBCA-DE 1 183563928 183563928 deletion of <=200bp T - upstream_gene_variant PRAD-CA 1 183529992 183529992 single base substitution A G downstream_gene_variant PRAD-CA 1 183529992 183529992 single base substitution A G intron_variant PRAD-CA 1 183557084 183557084 single base substitution G A intron_variant PRAD-UK 1 183542386 183542386 single base substitution C T intron_variant PRAD-UK 1 183542386 183542386 single base substitution C T synonymous_variant K136K 408G>A PRAD-UK 1 183542386 183542386 single base substitution C T synonymous_variant K181K 543G>A PRAD-UK 1 183542386 183542386 single base substitution C T upstream_gene_variant PRAD-UK 1 183552298 183552298 single base substitution C T intron_variant PRAD-UK 1 183558266 183558266 single base substitution C G intron_variant PRAD-UK 1 183558876 183558876 single base substitution C T intron_variant PRAD-US 1 183534901 183534901 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 1 183534901 183534901 single base substitution G A missense_variant P232L 695C>T PRAD-US 1 183534901 183534901 single base substitution G A missense_variant P268L 803C>T PRAD-US 1 183534901 183534901 single base substitution G A missense_variant P313L 938C>T PRAD-US 1 183534901 183534901 single base substitution G A missense_variant P52L 155C>T PRAD-US 1 183534901 183534901 single base substitution G A upstream_gene_variant PRAD-US 1 183539961 183539961 single base substitution A T missense_variant V127E 380T>A PRAD-US 1 183539961 183539961 single base substitution A T missense_variant V163E 488T>A PRAD-US 1 183539961 183539961 single base substitution A T missense_variant V208E 623T>A PRAD-US 1 183539961 183539961 single base substitution A T upstream_gene_variant READ-US 1 183533146 183533146 single base substitution C T 5_prime_UTR_variant READ-US 1 183533146 183533146 single base substitution C T exon_variant READ-US 1 183533146 183533146 single base substitution C T synonymous_variant E259E 777G>A READ-US 1 183533146 183533146 single base substitution C T synonymous_variant E295E 885G>A READ-US 1 183533146 183533146 single base substitution C T synonymous_variant E340E 1020G>A READ-US 1 183533146 183533146 single base substitution C T synonymous_variant E79E 237G>A RECA-EU 1 183542741 183542741 single base substitution G A intron_variant RECA-EU 1 183542741 183542741 single base substitution G A upstream_gene_variant RECA-EU 1 183549416 183549416 single base substitution G T intron_variant SKCA-BR 1 183521617 183521617 single base substitution C T downstream_gene_variant SKCA-BR 1 183523881 183523881 single base substitution C T downstream_gene_variant SKCA-BR 1 183525942 183525942 single base substitution G A downstream_gene_variant SKCA-BR 1 183525942 183525942 single base substitution G A intron_variant SKCA-BR 1 183526338 183526338 single base substitution G A downstream_gene_variant SKCA-BR 1 183526338 183526338 single base substitution G A intron_variant SKCA-BR 1 183528022 183528022 single base substitution C T downstream_gene_variant SKCA-BR 1 183528022 183528022 single base substitution C T intron_variant SKCA-BR 1 183530971 183530971 single base substitution C T downstream_gene_variant SKCA-BR 1 183530971 183530971 single base substitution C T intron_variant SKCA-BR 1 183532045 183532045 single base substitution G A downstream_gene_variant SKCA-BR 1 183532045 183532045 single base substitution G A intron_variant SKCA-BR 1 183534389 183534389 single base substitution C T intron_variant SKCA-BR 1 183534389 183534389 single base substitution C T upstream_gene_variant SKCA-BR 1 183537511 183537511 single base substitution C A intron_variant SKCA-BR 1 183537511 183537511 single base substitution C A upstream_gene_variant SKCA-BR 1 183538191 183538191 single base substitution C T intron_variant SKCA-BR 1 183539094 183539094 single base substitution G A intron_variant SKCA-BR 1 183539094 183539094 single base substitution G A upstream_gene_variant SKCA-BR 1 183539129 183539129 single base substitution C T intron_variant SKCA-BR 1 183539129 183539129 single base substitution C T upstream_gene_variant SKCA-BR 1 183541126 183541126 single base substitution T C intron_variant SKCA-BR 1 183541126 183541126 single base substitution T C upstream_gene_variant SKCA-BR 1 183541443 183541443 single base substitution C T intron_variant SKCA-BR 1 183541443 183541443 single base substitution C T upstream_gene_variant SKCA-BR 1 183542379 183542379 single base substitution G A intron_variant SKCA-BR 1 183542379 183542379 single base substitution G A stop_gained R139* 415C>T SKCA-BR 1 183542379 183542379 single base substitution G A stop_gained R184* 550C>T SKCA-BR 1 183542379 183542379 single base substitution G A upstream_gene_variant SKCA-BR 1 183542387 183542387 single base substitution T C intron_variant SKCA-BR 1 183542387 183542387 single base substitution T C missense_variant K136R 407A>G SKCA-BR 1 183542387 183542387 single base substitution T C missense_variant K181R 542A>G SKCA-BR 1 183542387 183542387 single base substitution T C upstream_gene_variant SKCA-BR 1 183542500 183542500 single base substitution G A intron_variant SKCA-BR 1 183542500 183542500 single base substitution G A upstream_gene_variant SKCA-BR 1 183542898 183542898 single base substitution G A intron_variant SKCA-BR 1 183542898 183542898 single base substitution G A upstream_gene_variant SKCA-BR 1 183543433 183543433 single base substitution C T intron_variant SKCA-BR 1 183544697 183544697 single base substitution T C intron_variant SKCA-BR 1 183544991 183544991 single base substitution T G intron_variant SKCA-BR 1 183546061 183546061 single base substitution G A intron_variant SKCA-BR 1 183550210 183550210 single base substitution A G intron_variant SKCA-BR 1 183550432 183550433 deletion of <=200bp AG - intron_variant SKCA-BR 1 183550478 183550478 single base substitution G A intron_variant SKCA-BR 1 183551154 183551154 single base substitution C T intron_variant SKCA-BR 1 183552540 183552540 single base substitution C T intron_variant SKCA-BR 1 183552588 183552588 single base substitution C T intron_variant SKCA-BR 1 183553560 183553560 single base substitution C T intron_variant SKCA-BR 1 183554804 183554804 single base substitution C T intron_variant SKCA-BR 1 183555999 183555999 single base substitution C T intron_variant SKCA-BR 1 183556276 183556276 single base substitution C T intron_variant SKCA-BR 1 183557431 183557431 single base substitution G A intron_variant SKCA-BR 1 183557599 183557599 single base substitution G A intron_variant SKCA-BR 1 183559608 183559608 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 183559608 183559608 single base substitution C T intron_variant SKCA-BR 1 183560209 183560209 single base substitution C T upstream_gene_variant SKCA-BR 1 183560924 183560924 single base substitution G A upstream_gene_variant SKCA-BR 1 183561892 183561892 single base substitution C T upstream_gene_variant SKCA-BR 1 183562207 183562207 single base substitution C T upstream_gene_variant SKCA-BR 1 183563577 183563577 single base substitution G A upstream_gene_variant SKCM-US 1 183519946 183519946 single base substitution C T downstream_gene_variant SKCM-US 1 183521048 183521048 single base substitution C T downstream_gene_variant SKCM-US 1 183525296 183525296 single base substitution T C downstream_gene_variant SKCM-US 1 183525296 183525296 single base substitution T C missense_variant D432G 1295A>G SKCM-US 1 183525296 183525296 single base substitution T C missense_variant D468G 1403A>G SKCM-US 1 183525296 183525296 single base substitution T C missense_variant D513G 1538A>G SKCM-US 1 183529291 183529291 single base substitution C T downstream_gene_variant SKCM-US 1 183529291 183529291 single base substitution C T missense_variant A389T 1165G>A SKCM-US 1 183529291 183529291 single base substitution C T missense_variant A425T 1273G>A SKCM-US 1 183529291 183529291 single base substitution C T missense_variant A470T 1408G>A SKCM-US 1 183529292 183529292 single base substitution C T downstream_gene_variant SKCM-US 1 183529292 183529292 single base substitution C T synonymous_variant E388E 1164G>A SKCM-US 1 183529292 183529292 single base substitution C T synonymous_variant E424E 1272G>A SKCM-US 1 183529292 183529292 single base substitution C T synonymous_variant E469E 1407G>A SKCM-US 1 183529378 183529378 single base substitution C T downstream_gene_variant SKCM-US 1 183529378 183529378 single base substitution C T missense_variant E360K 1078G>A SKCM-US 1 183529378 183529378 single base substitution C T missense_variant E396K 1186G>A SKCM-US 1 183529378 183529378 single base substitution C T missense_variant E441K 1321G>A SKCM-US 1 183532329 183532329 single base substitution C T downstream_gene_variant SKCM-US 1 183532329 183532329 single base substitution C T splice_donor_variant SKCM-US 1 183536087 183536087 single base substitution C T intron_variant SKCM-US 1 183536087 183536087 single base substitution C T missense_variant E217K 649G>A SKCM-US 1 183536087 183536087 single base substitution C T missense_variant E253K 757G>A SKCM-US 1 183536087 183536087 single base substitution C T missense_variant E298K 892G>A SKCM-US 1 183536087 183536087 single base substitution C T missense_variant E37K 109G>A SKCM-US 1 183536087 183536087 single base substitution C T upstream_gene_variant SKCM-US 1 183539946 183539946 single base substitution C T missense_variant S132N 395G>A SKCM-US 1 183539946 183539946 single base substitution C T missense_variant S168N 503G>A SKCM-US 1 183539946 183539946 single base substitution C T missense_variant S213N 638G>A SKCM-US 1 183539946 183539946 single base substitution C T upstream_gene_variant SKCM-US 1 183539972 183539972 single base substitution G A splice_region_variant SKCM-US 1 183539972 183539972 single base substitution G A upstream_gene_variant SKCM-US 1 183543646 183543646 single base substitution G A intron_variant SKCM-US 1 183543646 183543646 single base substitution G A synonymous_variant I159I 477C>T SKCM-US 1 183543712 183543712 single base substitution C T intron_variant SKCM-US 1 183543712 183543712 single base substitution C T stop_gained W137* 411G>A SKCM-US 1 183546757 183546757 single base substitution G A stop_gained Q115* 343C>T SKCM-US 1 183546838 183546838 single base substitution C T missense_variant D88N 262G>A SKCM-US 1 183559354 183559354 single base substitution G A synonymous_variant S37S 111C>T STAD-US 1 183533152 183533152 deletion of <=200bp T - 5_prime_UTR_variant STAD-US 1 183533152 183533152 deletion of <=200bp T - exon_variant STAD-US 1 183533152 183533152 deletion of <=200bp T - frameshift_variant K257 STAD-US 1 183533152 183533152 deletion of <=200bp T - frameshift_variant K293 STAD-US 1 183533152 183533152 deletion of <=200bp T - frameshift_variant K338 STAD-US 1 183533152 183533152 deletion of <=200bp T - frameshift_variant K77 STAD-US 1 183534900 183534900 single base substitution C T 5_prime_UTR_variant STAD-US 1 183534900 183534900 single base substitution C T synonymous_variant P232P 696G>A STAD-US 1 183534900 183534900 single base substitution C T synonymous_variant P268P 804G>A STAD-US 1 183534900 183534900 single base substitution C T synonymous_variant P313P 939G>A STAD-US 1 183534900 183534900 single base substitution C T synonymous_variant P52P 156G>A STAD-US 1 183534900 183534900 single base substitution C T upstream_gene_variant STAD-US 1 183534904 183534904 single base substitution G T 5_prime_UTR_variant STAD-US 1 183534904 183534904 single base substitution G T missense_variant S231Y 692C>A STAD-US 1 183534904 183534904 single base substitution G T missense_variant S267Y 800C>A STAD-US 1 183534904 183534904 single base substitution G T missense_variant S312Y 935C>A STAD-US 1 183534904 183534904 single base substitution G T missense_variant S51Y 152C>A STAD-US 1 183534904 183534904 single base substitution G T upstream_gene_variant STAD-US 1 183538297 183538297 single base substitution C T 5_prime_UTR_variant STAD-US 1 183538297 183538297 single base substitution C T synonymous_variant P150P 450G>A STAD-US 1 183538297 183538297 single base substitution C T synonymous_variant P186P 558G>A STAD-US 1 183538297 183538297 single base substitution C T synonymous_variant P231P 693G>A STAD-US 1 183543714 183543714 single base substitution A G intron_variant STAD-US 1 183543714 183543714 single base substitution A G missense_variant W137R 409T>C STAD-US 1 183559359 183559359 deletion of <=200bp G - frameshift_variant H36 STAD-US 1 183559420 183559420 single base substitution C A synonymous_variant L15L 45G>T THCA-SA 1 183559704 183559704 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 1 183559704 183559704 single base substitution A C intron_variant THCA-US 1 183520210 183520210 single base substitution C T downstream_gene_variant UCEC-US 1 183519994 183519994 single base substitution C A downstream_gene_variant UCEC-US 1 183520223 183520223 single base substitution C A downstream_gene_variant UCEC-US 1 183534877 183534877 single base substitution G T 5_prime_UTR_variant UCEC-US 1 183534877 183534877 single base substitution G T missense_variant P240H 719C>A UCEC-US 1 183534877 183534877 single base substitution G T missense_variant P276H 827C>A UCEC-US 1 183534877 183534877 single base substitution G T missense_variant P321H 962C>A UCEC-US 1 183534877 183534877 single base substitution G T missense_variant P60H 179C>A UCEC-US 1 183534877 183534877 single base substitution G T upstream_gene_variant UCEC-US 1 183534884 183534884 single base substitution C A 5_prime_UTR_variant UCEC-US 1 183534884 183534884 single base substitution C A missense_variant A238S 712G>T UCEC-US 1 183534884 183534884 single base substitution C A missense_variant A274S 820G>T UCEC-US 1 183534884 183534884 single base substitution C A missense_variant A319S 955G>T UCEC-US 1 183534884 183534884 single base substitution C A missense_variant A58S 172G>T UCEC-US 1 183534884 183534884 single base substitution C A upstream_gene_variant UCEC-US 1 183536425 183536425 single base substitution C A 5_prime_UTR_variant UCEC-US 1 183536425 183536425 single base substitution C A intron_variant UCEC-US 1 183536425 183536425 single base substitution C A stop_gained E176* 526G>T UCEC-US 1 183536425 183536425 single base substitution C A stop_gained E212* 634G>T UCEC-US 1 183536425 183536425 single base substitution C A stop_gained E257* 769G>T UCEC-US 1 183536425 183536425 single base substitution C A upstream_gene_variant UCEC-US 1 183536457 183536457 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 183536457 183536457 single base substitution C T intron_variant UCEC-US 1 183536457 183536457 single base substitution C T missense_variant R165H 494G>A UCEC-US 1 183536457 183536457 single base substitution C T missense_variant R201H 602G>A UCEC-US 1 183536457 183536457 single base substitution C T missense_variant R246H 737G>A UCEC-US 1 183536457 183536457 single base substitution C T upstream_gene_variant UCEC-US 1 183538285 183538285 single base substitution C A 5_prime_UTR_variant UCEC-US 1 183538285 183538285 single base substitution C A missense_variant E154D 462G>T UCEC-US 1 183538285 183538285 single base substitution C A missense_variant E190D 570G>T UCEC-US 1 183538285 183538285 single base substitution C A missense_variant E235D 705G>T UCEC-US 1 183538317 183538317 single base substitution C T 5_prime_UTR_variant UCEC-US 1 183538317 183538317 single base substitution C T missense_variant A144T 430G>A UCEC-US 1 183538317 183538317 single base substitution C T missense_variant A180T 538G>A UCEC-US 1 183538317 183538317 single base substitution C T missense_variant A225T 673G>A UCEC-US 1 183539914 183539914 single base substitution C T splice_donor_variant UCEC-US 1 183539914 183539914 single base substitution C T upstream_gene_variant UCEC-US 1 183543658 183543658 single base substitution T C intron_variant UCEC-US 1 183543658 183543658 single base substitution T C synonymous_variant R155R 465A>G UCEC-US 1 183546778 183546778 single base substitution C A missense_variant D108Y 322G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BT-A42B-01 COSM4390044 c.94G>A p.V32I Substitution - Missense 1:183590236-183590236 - TCGA-G4-6588-01 COSM1337030 c.1543G>A p.A515T Substitution - Missense 1:183556156-183556156 - TCGA-EE-A2A2-06 COSM3480027 c.477C>T p.I159I Substitution - coding silent 1:183574511-183574511 - PT50 COSM5936908 c.823G>A p.D275N Substitution - Missense 1:183567236-183567236 - TCGA-ER-A19P-06 COSM3480022 c.1407G>A p.E469E Substitution - coding silent 1:183560157-183560157 - ICGC_MB7 COSM215493 c.466C>T p.H156Y Substitution - Missense 1:183574522-183574522 - KPOPBR-03-T COSM5965733 c.736C>T p.R246C Substitution - Missense 1:183567323-183567323 - TCGA-BG-A0VZ-01 COSM900826 c.737G>A p.R246H Substitution - Missense 1:183567322-183567322 - T207 COSM4705865 c.853C>A p.Q285K Substitution - Missense 1:183567206-183567206 - TCGA-BR-6452-01 COSM4025931 c.409T>C p.W137R Substitution - Missense 1:183574579-183574579 - T3535 COSM4705864 c.1376G>A p.G459D Substitution - Missense 1:183560188-183560188 - TCGA-D1-A160-01 COSM900828 c.673G>A p.A225T Substitution - Missense 1:183569182-183569182 - LS411 COSM2097715 c.1493A>G p.E498G Substitution - Missense 1:183556206-183556206 - CSCC-29-T COSM4451628 c.1322A>C p.E441A Substitution - Missense 1:183560242-183560242 - TCGA-D1-A103-01 COSM900827 c.705G>T p.E235D Substitution - Missense 1:183569150-183569150 - TCGA-D9-A3Z3-06 COSM3480027 c.477C>T p.I159I Substitution - coding silent 1:183574511-183574511 - PT55 COSM5941536 c.1456G>A p.V486M Substitution - Missense 1:183560108-183560108 - HN_62995 COSM121292 c.1185G>C p.R395R Substitution - coding silent 1:183563300-183563300 - TCGA-23-1123-01 COSM75573 c.448A>G p.M150V Substitution - Missense 1:183574540-183574540 - TCGA-GF-A6C9-06 COSM4902094 c.1408G>A p.A470T Substitution - Missense 1:183560156-183560156 - S02139 COSM531247 c.112C>A p.R38R Substitution - coding silent 1:183590218-183590218 - EW8 COSM4576669 c.1184G>A p.R395Q Substitution - Missense 1:183563301-183563301 - TCGA-AA-3492-01 COSM1337038 c.196C>A p.R66R Substitution - coding silent 1:183586956-183586956 - TCGA-BR-4362-01 COSM2097731 c.939G>A p.P313P Substitution - coding silent 1:183565765-183565765 - ME029T COSM226479 c.403G>A p.E135K Substitution - Missense 1:183574585-183574585 - sysucc-1163T COSM1659615 c.1321G>A p.E441K Substitution - Missense 1:183560243-183560243 - CRC-09T COSM5452796 c.1146A>G p.K382K Substitution - coding silent 1:183563466-183563466 - cSCCP7 COSM139348 c.110C>T p.S37F Substitution - Missense 1:183590220-183590220 - TCGA-QU-A6IM-01 COSM4393174 c.623T>A p.V208E Substitution - Missense 1:183570826-183570826 - HCT8 COSM1337030 c.1543G>A p.A515T Substitution - Missense 1:183556156-183556156 - TCGA-43-6647-01 COSM677664 c.485C>A p.A162E Substitution - Missense 1:183574503-183574503 - ccRCC-58 COSM1659615 c.1321G>A p.E441K Substitution - Missense 1:183560243-183560243 - TCGA-B5-A0K9-01 COSM900823 c.962C>A p.P321H Substitution - Missense 1:183565742-183565742 - TCGA-AY-6197-01 COSM1337031 c.1517delT p.F506fs*>21 Deletion - Frameshift 1:183556182-183556182 - CSCC-44-T COSM4526085 c.1371G>C p.K457N Substitution - Missense 1:183560193-183560193 - B23-Tumor COSM1748004 c.210G>A p.L70L Substitution - coding silent 1:183586942-183586942 - TCGA-AG-3878-01 COSM5067759 c.1478A>C p.E493A Substitution - Missense 1:183556221-183556221 - pfg097T COSM4418925 c.836C>T p.T279M Substitution - Missense 1:183567223-183567223 - TCGA-E9-A1RE-01 COSM208847 c.229C>T p.R77* Substitution - Nonsense 1:183586923-183586923 - C058 COSM5525289 c.450G>A p.M150I Substitution - Missense 1:183574538-183574538 - TCGA-HC-7081-01 COSM4393553 c.938C>T p.P313L Substitution - Missense 1:183565766-183565766 - B23 COSM1748004 c.210G>A p.L70L Substitution - coding silent 1:183586942-183586942 - TCGA-HU-A4H8-01 COSM4025932 c.45G>T p.L15L Substitution - coding silent 1:183590285-183590285 - BZ39 COSM5759309 c.563G>A p.R188K Substitution - Missense 1:183573231-183573231 - TCGA-BR-8680-01 COSM4025930 c.693G>A p.P231P Substitution - coding silent 1:183569162-183569162 - TCGA-CA-6717-01 COSM1337033 c.844T>C p.F282L Substitution - Missense 1:183567215-183567215 - SNUH_G76_S1 COSM4418925 c.836C>T p.T279M Substitution - Missense 1:183567223-183567223 - TCGA-EB-A431-01 COSM3480031 c.111C>T p.S37S Substitution - coding silent 1:183590219-183590219 - PTC-14C COSM3750690 c.542A>G p.K181R Substitution - Missense 1:183573252-183573252 - PT36 COSM5914697 c.502-1G>A p.? Unknown 1:183573293-183573293 - TCGA-F5-6813-01 COSM1560391 c.1121A>T p.Q374L Substitution - Missense 1:183563491-183563491 - TCGA-H4-A2HQ-01 COSM1295585 c.1189C>T p.R397W Substitution - Missense 1:183563296-183563296 - TCGA-24-1423-01 COSM71794 c.946G>A p.D316N Substitution - Missense 1:183565758-183565758 - TCGA-A2-A0SY-01 COSM424772 c.517G>A p.E173K Substitution - Missense 1:183573277-183573277 - HCT15 COSM1337030 c.1543G>A p.A515T Substitution - Missense 1:183556156-183556156 - PDA_060 COSM3750690 c.542A>G p.K181R Substitution - Missense 1:183573252-183573252 - TCGA-AR-A0TX-01 COSM424775 c.27C>G p.L9L Substitution - coding silent 1:183590303-183590303 - TCGA-G9-6338-01 COSM3671547 c.1190G>T p.R397L Substitution - Missense 1:183563295-183563295 - WT021 COSM5351877 c.450G>C p.M150I Substitution - Missense 1:183574538-183574538 - TCGA-AN-A0AL-01 COSM424774 c.223T>G p.F75V Substitution - Missense 1:183586929-183586929 - YUKAT COSM5378850 c.1149G>A p.L383L Substitution - coding silent 1:183563463-183563463 - TCGA-BH-A18Q-01 COSM424773 c.486G>C p.A162A Substitution - coding silent 1:183574502-183574502 - TCGA-CG-5723-01 COSM4025930 c.693G>A p.P231P Substitution - coding silent 1:183569162-183569162 - TCGA-B5-A11E-01 COSM900830 c.465A>G p.R155R Substitution - coding silent 1:183574523-183574523 - TCGA-EE-A29M-06 COSM3480029 c.343C>T p.Q115* Substitution - Nonsense 1:183577622-183577622 - TCGA-D3-A3C8-06 COSM3480028 c.411G>A p.W137* Substitution - Nonsense 1:183574577-183574577 - TCGA-EE-A29R-06 COSM3480023 c.1290+1G>A p.? Unknown 1:183563194-183563194 - SCMC_RM2_ COSM4989182 c.1183C>T p.R395W Substitution - Missense 1:183563302-183563302 - TCGA-BL-A13J-01 COSM414265 c.1067T>A p.V356E Substitution - Missense 1:183563545-183563545 - SJHGG070_A COSM4971326 c.947A>T p.D316V Substitution - Missense 1:183565757-183565757 - P03-2345 COSM245955 c.217G>C p.A73P Substitution - Missense 1:183586935-183586935 - YURAY COSM5378851 c.1106G>A p.G369E Substitution - Missense 1:183563506-183563506 - TCGA-36-2538-01 COSM1320656 c.634G>A p.D212N Substitution - Missense 1:183570815-183570815 - TCGA-D9-A6EC-06 COSM4400084 c.1538A>G p.D513G Substitution - Missense 1:183556161-183556161 - 0064_CRUK_PC_0064_T1_DNA COSM4421081 c.543G>A p.K181K Substitution - coding silent 1:183573251-183573251 - 6115115 COSM3400085 c.1126C>T p.R376W Substitution - Missense 1:183563486-183563486 - ME020T COSM225450 c.1092G>A p.M364I Substitution - Missense 1:183563520-183563520 - TCGA-66-2754-01 COSM677665 c.1160T>G p.L387R Substitution - Missense 1:183563452-183563452 - 1N36-VS-1T36 COSM4974879 c.196C>T p.R66* Substitution - Nonsense 1:183586956-183586956 - TCGA-C8-A1HJ-01 COSM1473144 c.1550_1551delCA p.T517fs*>10 Deletion - Frameshift 1:183556148-183556149 - PTC-7C COSM3750690 c.542A>G p.K181R Substitution - Missense 1:183573252-183573252 - TCGA-F5-6813-01 COSM5080445 c.1001-7C>T p.? Unknown 1:183564037-183564037 - PT36 COSM5914696 c.1442G>A p.G481E Substitution - Missense 1:183560122-183560122 - 260211 COSM3725535 c.526G>T p.V176L Substitution - Missense 1:183573268-183573268 - HN_62741 COSM124687 c.692C>G p.P231R Substitution - Missense 1:183569163-183569163 - TCGA-BC-A3KG-01 COSM4942565 c.1064A>C p.K355T Substitution - Missense 1:183563548-183563548 - TCGA-FU-A5XV-01 COSM4844212 c.790G>A p.G264R Substitution - Missense 1:183567269-183567269 - TCGA-18-4083-01 COSM677666 c.1578C>G p.V526V Substitution - coding silent 1:183556121-183556121 - 587376 COSM1216808 c.571G>A p.A191T Substitution - Missense 1:183573223-183573223 - 2318503 COSM4777419 c.113G>T p.R38L Substitution - Missense 1:183590217-183590217 - YUKLAB COSM1689399 c.112C>T p.R38W Substitution - Missense 1:183590218-183590218 - TCGA-DI-A0WH-01 COSM900822 c.1344T>C p.N448N Substitution - coding silent 1:183560220-183560220 - HT115 COSM2097716 c.1486G>C p.E496Q Substitution - Missense 1:183556213-183556213 - YUWAND COSM1689398 c.559G>A p.E187K Substitution - Missense 1:183573235-183573235 - LS411 COSM2097739 c.632A>G p.Q211R Substitution - Missense 1:183570817-183570817 - TCGA-19-5960-01 COSM3400086 c.262G>T p.D88Y Substitution - Missense 1:183577703-183577703 - 19M COSM5579056 c.656C>T p.P219L Substitution - Missense 1:183570793-183570793 - RMS88_ COSM1178273 c.1167C>A p.H389Q Substitution - Missense 1:183563445-183563445 - TCGA-A7-A5ZV-01 COSM3803150 c.974C>A p.A325D Substitution - Missense 1:183565730-183565730 - RDES COSM4576669 c.1184G>A p.R395Q Substitution - Missense 1:183563301-183563301 - TCGA-BP-4986-01 COSM463542 c.1075A>T p.K359* Substitution - Nonsense 1:183563537-183563537 - TCGA-DI-A0WH-01 COSM124687 c.692C>G p.P231R Substitution - Missense 1:183569163-183569163 - TCGA-06-0879-01 COSM2152318 c.609G>A p.T203T Substitution - coding silent 1:183573185-183573185 - 2530678 COSM5885550 c.1387G>C p.E463Q Substitution - Missense 1:183560177-183560177 - TCGA-EI-6917-01 COSM3418477 c.1020G>A p.E340E Substitution - coding silent 1:183564011-183564011 - TCGA-BS-A0UF-01 COSM900825 c.769G>T p.E257* Substitution - Nonsense 1:183567290-183567290 - TCGA-GN-A266-06 COSM3480030 c.262G>A p.D88N Substitution - Missense 1:183577703-183577703 - TCGA-D8-A27V-01 COSM3803149 c.1110C>T p.L370L Substitution - coding silent 1:183563502-183563502 - TCGA-23-1111-01 COSM1320657 c.1174C>G p.L392V Substitution - Missense 1:183563438-183563438 - TCGA-22-1016-01 COSM677663 c.460C>A p.P154T Substitution - Missense 1:183574528-183574528 - TCGA-EE-A3AF-06 COSM3480024 c.892G>A p.E298K Substitution - Missense 1:183566952-183566952 - TCGA-AC-A23H-01 COSM3803152 c.823G>C p.D275H Substitution - Missense 1:183567236-183567236 - TCGA-AX-A0J1-01 COSM900831 c.322G>T p.D108Y Substitution - Missense 1:183577643-183577643 - TCGA-EK-A2PL-01 COSM4838378 c.813G>A p.K271K Substitution - coding silent 1:183567246-183567246 - PT46 COSM5928113 c.174+7G>A p.? Unknown 1:183590149-183590149 - YUSMI COSM5378852 c.71G>A p.G24E Substitution - Missense 1:183590259-183590259 - TCGA-EW-A3U0-01 COSM3803151 c.916C>A p.Q306K Substitution - Missense 1:183566928-183566928 - TCGA-EE-A2GC-06 COSM1659615 c.1321G>A p.E441K Substitution - Missense 1:183560243-183560243 - SA225 COSM124687 c.692C>G p.P231R Substitution - Missense 1:183569163-183569163 - TCGA-24-1435-01 COSM1320658 c.1321_1322GA>AC p.E441T Substitution - Missense 1:183560242-183560243 - TCGA-AG-4005-01 COSM289384 c.1423G>A p.D475N Substitution - Missense 1:183560141-183560141 - ESO-043 COSM1258806 c.945C>T p.S315S Substitution - coding silent 1:183565759-183565759 - LS411 COSM2097737 c.652G>A p.A218T Substitution - Missense 1:183570797-183570797 - TCGA-BT-A20T-01 COSM414264 c.608C>T p.T203M Substitution - Missense 1:183573186-183573186 - 07-P8041 COSM2097752 c.298C>T p.Q100* Substitution - Nonsense 1:183577667-183577667 - NCI-H23 COSM1668263 c.174G>T p.K58N Substitution - Missense 1:183590156-183590156 - TCGA-D3-A3ML-06 COSM3480026 c.612C>T p.V204V Substitution - coding silent 1:183570837-183570837 - DLD1 COSM1337030 c.1543G>A p.A515T Substitution - Missense 1:183556156-183556156 - LUAD-B00416 COSM331145 c.1159C>A p.L387M Substitution - Missense 1:183563453-183563453 - TCGA-AP-A059-01 COSM900829 c.669+1G>A p.? Unknown 1:183570779-183570779 - SWE-3A COSM1178273 c.1167C>A p.H389Q Substitution - Missense 1:183563445-183563445 - TCGA-B5-A11E-01 COSM900824 c.955G>T p.A319S Substitution - Missense 1:183565749-183565749 - U2940 COSM5621353 c.460C>T p.P154S Substitution - Missense 1:183574528-183574528 - TCGA-AM-5820-01 COSM3750690 c.542A>G p.K181R Substitution - Missense 1:183573252-183573252 - TCGA-46-3767-01 COSM677661 c.75C>A p.A25A Substitution - coding silent 1:183590255-183590255 - TCGA-13-1509-01 COSM75572 c.501G>C p.W167C Substitution - Missense 1:183574487-183574487 - CRC-16T COSM5452965 c.551G>A p.R184Q Substitution - Missense 1:183573243-183573243 - TCGA-JW-A5VG-01 COSM4818382 c.556A>T p.N186Y Substitution - Missense 1:183573238-183573238 - TCGA-74-6575-01 COSM3400085 c.1126C>T p.R376W Substitution - Missense 1:183563486-183563486 - TCGA-F1-6874-01 COSM4025929 c.935C>A p.S312Y Substitution - Missense 1:183565769-183565769 - D01 COSM1689398 c.559G>A p.E187K Substitution - Missense 1:183573235-183573235 - TCGA-EE-A29S-06 COSM3480025 c.638G>A p.S213N Substitution - Missense 1:183570811-183570811 - ICGC_0062 COSM1157764 c.939G>T p.P313P Substitution - coding silent 1:183565765-183565765 - TCGA-06-0879 COSM2152318 c.609G>A p.T203T Substitution - coding silent 1:183573185-183573185 - sysucc-1317T COSM5448293 c.258-9G>A p.? Unknown 1:183577716-183577716 - 8031098 COSM1157764 c.939G>T p.P313P Substitution - coding silent 1:183565765-183565765 - sysucc-783T COSM5483675 c.91G>A p.A31T Substitution - Missense 1:183590239-183590239 - RMS85_ COSM1178273 c.1167C>A p.H389Q Substitution - Missense 1:183563445-183563445 - PDA_037 COSM208847 c.229C>T p.R77* Substitution - Nonsense 1:183586923-183586923 - 49M COSM4025930 c.693G>A p.P231P Substitution - coding silent 1:183569162-183569162 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.587439;Hs.587443;Hs.587446;Hs.587447;Hs.587450;Hs.587454;Hs.587465;Hs.587466;Hs.587467;Hs.587468;Hs.587470;Hs.587481;Hs.587483;Hs.587484;Hs.587499;Hs.587502;Hs.587510;Hs.587512;Hs.587521;Hs.587528;Hs.587529;Hs.587536;Hs.587557;Hs.587558 1q25 157660;608515

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F75V c.223T>G 1 183556064 BRCA A C Missense p.L387R c.1160T>G 1 183532587 LUSC A G IntronicSNV . c.1026+11T>C 1 183533129 STAD A T Missense p.V208E c.623T>A 1 183539961 PRAD A T Missense p.V356E c.1067T>A 1 183532680 BLCA C A Missense p.D88Y c.262G>T 1 183546838 GBM C A Missense p.R386L c.1157G>T 1 183532590 PRAD C A Missense p.R397L c.1190G>T 1 183532430 PRAD C A Synonymous p.P313P c.939G>T 1 183534900 PAAD C G Missense p.K133N c.399G>C 1 183543724 HNSC C G Missense p.K457N c.1371G>C 1 183529328 HNSC C G Missense p.R102P c.305G>C 1 183546795 HNSC C G Missense p.W167C c.501G>C 1 183543622 OV C G Synonymous p.A162A c.486G>C 1 183543637 BRCA C G Synonymous p.R395R c.1185G>C 1 183532435 HNSC C T 3-UTRSNV . c.1578+30G>A 1 183525226 CM C T Missense p.A225T c.673G>A 1 183538317 UCEC C T Missense p.D316N c.946G>A 1 183534893 OV C T Missense p.D475N c.1423G>A 1 183529276 COREAD C T Missense p.E135K c.403G>A 1 183543720 CM C T Missense p.E173K c.517G>A 1 183542412 BRCA C T Missense p.E298K c.892G>A 1 183536087 CM C T Missense p.E441K c.1321G>A 1 183529378 CM C T Missense p.E493K c.1477G>A 1 183525357 LUAD C T Missense p.M364I c.1092G>A 1 183532655 CM C T Missense p.R246H c.737G>A 1 183536457 UCEC C T Missense p.S213N c.638G>A 1 183539946 CM C T Nonsense p.W137* c.411G>A 1 183543712 CM C T Nonsense p.W167* c.500G>A 1 183543623 LGG C T SpliceDonorSNV . c.1290+1G>A 1 183532329 CM C T Synonymous p.E469E c.1407G>A 1 183529292 CM C T Synonymous p.L392L c.1176G>A 1 183532571 HNSC C T Synonymous p.T203T c.609G>A 1 183542320 GBM CTT - InFrameDeletion p.K134delK c.400_402delAAG 1 183543721 HNSC G A Missense p.H156Y c.466C>T 1 183543657 MB G A Missense p.R376W c.1126C>T 1 183532621 GBM G A Missense p.R397W c.1189C>T 1 183532431 BLCA G A Missense p.S406L c.1217C>T 1 183532403 BRCA G A Missense p.T203M c.608C>T 1 183542321 BLCA G A Nonsense p.Q115* c.343C>T 1 183546757 CM G A Nonsense p.R77* c.229C>T 1 183556058 BRCA G A Synonymous p.I159I c.477C>T 1 183543646 CM G A Synonymous p.S315S c.945C>T 1 183534894 ESCA G A Synonymous p.V204V c.612C>T 1 183539972 CM G C CdsStopSNV . c.1578C>G 1 183525256 LUSC G C Missense p.P231R c.692C>G 1 183538298 BRCA G C Missense p.P231R c.692C>G 1 183538298 HNSC G T Missense p.A162E c.485C>A 1 183543638 LUSC G T Missense p.P154T c.460C>A 1 183543663 LUSC G T Missense p.P321H c.962C>A 1 183534877 UCEC G T Missense p.S312Y c.935C>A 1 183534904 STAD G T Synonymous p.A25A c.75C>A 1 183559390 LUSC T A Nonsense p.K359* c.1075A>T 1 183532672 RCCC TC GT Missense p.E441T c.1321_1322delinsAC 1 183529377 OV T C Missense p.M150V c.448A>G 1 183543675 OV T C Synonymous p.E388E c.1164A>G 1 183532583 CM TG - Frameshift p.T517Rfs*15 c.1550_1551delCA 1 183525283 BRCA