Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 189068073 189068073 + Silent SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr4:189068073C>A c.954C>A c.(952-954)ccC>ccA p.P318P BLCA 4 189060867 189060867 + Missense_Mutation SNP C C A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr4:189060867C>A c.155C>A c.(154-156)tCt>tAt p.S52Y BLCA 4 189061706 189061706 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr4:189061706C>G c.433C>G c.(433-435)Ctt>Gtt p.L145V BLCA 4 189063602 189063602 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 g.chr4:189063602C>T c.701C>T c.(700-702)tCc>tTc p.S234F BLCA 4 189068146 189068146 + Missense_Mutation SNP T T C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 g.chr4:189068146T>C c.1027T>C c.(1027-1029)Tgg>Cgg p.W343R BLCA 4 189068280 189068280 + Nonsense_Mutation SNP C C G TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr4:189068280C>G c.1161C>G c.(1159-1161)taC>taG p.Y387* BLCA 4 189068457 189068457 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr4:189068457C>A c.1338C>A c.(1336-1338)tcC>tcA p.S446S BRCA 4 189061035 189061035 + Missense_Mutation SNP A A T TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 g.chr4:189061035A>T c.323A>T c.(322-324)gAc>gTc p.D108V BRCA 4 189068190 189068190 + Silent SNP C C T TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr4:189068190C>T c.1071C>T c.(1069-1071)atC>atT p.I357I BRCA 4 189068232 189068232 + Silent SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr4:189068232A>C c.1113A>C c.(1111-1113)ccA>ccC p.P371P BRCA 4 189068235 189068235 + Silent SNP T T A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 g.chr4:189068235T>A c.1116T>A c.(1114-1116)ccT>ccA p.P372P CESC 4 189060882 189060882 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr4:189060882G>A c.170G>A c.(169-171)tGg>tAg p.W57* CESC 4 189061706 189061706 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr4:189061706C>G c.433C>G c.(433-435)Ctt>Gtt p.L145V CESC 4 189068346 189068346 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr4:189068346C>T c.1227C>T c.(1225-1227)gtC>gtT p.V409V COAD 4 189060773 189060773 + Missense_Mutation SNP G G T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr4:189060773G>T c.61G>T c.(61-63)Gac>Tac p.D21Y COAD 4 189060944 189060944 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:189060944G>A c.232G>A c.(232-234)Gcc>Acc p.A78T COAD 4 189060961 189060961 + Silent SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:189060961C>A c.249C>A c.(247-249)tcC>tcA p.S83S COAD 4 189061066 189061066 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:189061066G>T c.354G>T c.(352-354)caG>caT p.Q118H COAD 4 189061074 189061074 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:189061074G>A c.362G>A c.(361-363)gGt>gAt p.G121D COAD 4 189065283 189065283 + Silent SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr4:189065283C>T c.852C>T c.(850-852)ttC>ttT p.F284F COAD 4 189067977 189067977 + Splice_Site SNP G G A TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr4:189067977G>A c.858G>A c.(856-858)acG>acA p.T286T COAD 4 189068102 189068102 + Missense_Mutation SNP C C T TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr4:189068102C>T c.983C>T c.(982-984)gCg>gTg p.A328V COAD 4 189068452 189068452 + Missense_Mutation SNP T T A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr4:189068452T>A c.1333T>A c.(1333-1335)Ttt>Att p.F445I COADREAD 4 189060773 189060773 + Missense_Mutation SNP G G T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr4:189060773G>T c.61G>T c.(61-63)Gac>Tac p.D21Y COADREAD 4 189060944 189060944 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:189060944G>A c.232G>A c.(232-234)Gcc>Acc p.A78T COADREAD 4 189060961 189060961 + Silent SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:189060961C>A c.249C>A c.(247-249)tcC>tcA p.S83S COADREAD 4 189061066 189061066 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:189061066G>T c.354G>T c.(352-354)caG>caT p.Q118H COADREAD 4 189061074 189061074 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:189061074G>A c.362G>A c.(361-363)gGt>gAt p.G121D COADREAD 4 189063625 189063625 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:189063625G>A c.724G>A c.(724-726)Gaa>Aaa p.E242K COADREAD 4 189065283 189065283 + Silent SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr4:189065283C>T c.852C>T c.(850-852)ttC>ttT p.F284F COADREAD 4 189067977 189067977 + Splice_Site SNP G G A TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr4:189067977G>A c.858G>A c.(856-858)acG>acA p.T286T COADREAD 4 189068102 189068102 + Missense_Mutation SNP C C T TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr4:189068102C>T c.983C>T c.(982-984)gCg>gTg p.A328V COADREAD 4 189068452 189068452 + Missense_Mutation SNP T T A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr4:189068452T>A c.1333T>A c.(1333-1335)Ttt>Att p.F445I DLBC 4 189061010 189061010 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr4:189061010A>G c.298A>G c.(298-300)Acc>Gcc p.T100A ESCA 4 189060790 189060790 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr4:189060790A>G c.78A>G c.(76-78)ccA>ccG p.P26P ESCA 4 189063453 189063453 + Missense_Mutation SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr4:189063453A>T c.552A>T c.(550-552)aaA>aaT p.K184N ESCA 4 189068495 189068495 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr4:189068495T>A c.1376T>A c.(1375-1377)cTc>cAc p.L459H GBM 4 189060967 189060967 + Silent SNP G G A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr4:189060967G>A c.255G>A c.(253-255)gtG>gtA p.V85V GBM 4 189063477 189063477 + Missense_Mutation SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr4:189063477G>C c.576G>C c.(574-576)gaG>gaC p.E192D GBM 4 189065255 189065255 + Missense_Mutation SNP C C T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 g.chr4:189065255C>T c.824C>T c.(823-825)aCg>aTg p.T275M GBM 4 189068016 189068016 + Silent SNP C C T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr4:189068016C>T c.897C>T c.(895-897)ctC>ctT p.L299L GBM 4 189068102 189068102 + Missense_Mutation SNP C C T TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr4:189068102C>T c.983C>T c.(982-984)gCg>gTg p.A328V GBM 4 189068289 189068289 + Missense_Mutation SNP G G T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr4:189068289G>T c.1170G>T c.(1168-1170)tgG>tgT p.W390C GBM 4 189068417 189068417 + Missense_Mutation SNP C C T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr4:189068417C>T c.1298C>T c.(1297-1299)cCg>cTg p.P433L GBMLGG 4 189060811 189060811 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:189060811C>T c.99C>T c.(97-99)caC>caT p.H33H GBMLGG 4 189060901 189060901 + Silent SNP G G A TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr4:189060901G>A c.189G>A c.(187-189)ccG>ccA p.P63P GBMLGG 4 189060967 189060967 + Silent SNP G G A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr4:189060967G>A c.255G>A c.(253-255)gtG>gtA p.V85V GBMLGG 4 189060990 189060990 + Missense_Mutation SNP G G T TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr4:189060990G>T c.278G>T c.(277-279)gGc>gTc p.G93V GBMLGG 4 189061052 189061052 + Missense_Mutation SNP G G A TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr4:189061052G>A c.340G>A c.(340-342)Gcc>Acc p.A114T GBMLGG 4 189063477 189063477 + Missense_Mutation SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr4:189063477G>C c.576G>C c.(574-576)gaG>gaC p.E192D GBMLGG 4 189063519 189063519 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:189063519G>T c.618G>T c.(616-618)gaG>gaT p.E206D GBMLGG 4 189065196 189065196 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr4:189065196G>A c.765G>A c.(763-765)gaG>gaA p.E255E GBMLGG 4 189065255 189065255 + Missense_Mutation SNP C C T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 g.chr4:189065255C>T c.824C>T c.(823-825)aCg>aTg p.T275M GBMLGG 4 189068016 189068016 + Silent SNP C C T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr4:189068016C>T c.897C>T c.(895-897)ctC>ctT p.L299L GBMLGG 4 189068102 189068102 + Missense_Mutation SNP C C T TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr4:189068102C>T c.983C>T c.(982-984)gCg>gTg p.A328V GBMLGG 4 189068102 189068102 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:189068102C>T c.983C>T c.(982-984)gCg>gTg p.A328V GBMLGG 4 189068289 189068289 + Missense_Mutation SNP G G T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr4:189068289G>T c.1170G>T c.(1168-1170)tgG>tgT p.W390C GBMLGG 4 189068385 189068385 + Silent SNP C C T TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr4:189068385C>T c.1266C>T c.(1264-1266)aaC>aaT p.N422N GBMLGG 4 189068417 189068417 + Missense_Mutation SNP C C T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr4:189068417C>T c.1298C>T c.(1297-1299)cCg>cTg p.P433L GBMLGG 4 189068521 189068521 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr4:189068521G>A c.1402G>A c.(1402-1404)Gtc>Atc p.V468I HNSC 4 189060730 189060730 + Silent SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr4:189060730G>C c.18G>C c.(16-18)ctG>ctC p.L6L HNSC 4 189060748 189060748 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr4:189060748G>A c.36G>A c.(34-36)gaG>gaA p.E12E HNSC 4 189060943 189060943 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr4:189060943C>T c.231C>T c.(229-231)atC>atT p.I77I HNSC 4 189060957 189060957 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr4:189060957G>T c.245G>T c.(244-246)cGg>cTg p.R82L HNSC 4 189060960 189060960 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr4:189060960C>A c.248C>A c.(247-249)tCc>tAc p.S83Y HNSC 4 189068081 189068081 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr4:189068081C>A c.962C>A c.(961-963)cCg>cAg p.P321Q HNSC 4 189068147 189068147 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr4:189068147G>T c.1028G>T c.(1027-1029)tGg>tTg p.W343L HNSC 4 189068236 189068236 + Missense_Mutation SNP G G T TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr4:189068236G>T c.1117G>T c.(1117-1119)Ggg>Tgg p.G373W HNSC 4 189068327 189068327 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr4:189068327C>A c.1208C>A c.(1207-1209)cCt>cAt p.P403H LGG 4 189060811 189060811 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:189060811C>T c.99C>T c.(97-99)caC>caT p.H33H LGG 4 189060901 189060901 + Silent SNP G G A TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr4:189060901G>A c.189G>A c.(187-189)ccG>ccA p.P63P LGG 4 189060990 189060990 + Missense_Mutation SNP G G T TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr4:189060990G>T c.278G>T c.(277-279)gGc>gTc p.G93V LGG 4 189061052 189061052 + Missense_Mutation SNP G G A TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr4:189061052G>A c.340G>A c.(340-342)Gcc>Acc p.A114T LGG 4 189063519 189063519 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:189063519G>T c.618G>T c.(616-618)gaG>gaT p.E206D LGG 4 189065196 189065196 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr4:189065196G>A c.765G>A c.(763-765)gaG>gaA p.E255E LGG 4 189068102 189068102 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:189068102C>T c.983C>T c.(982-984)gCg>gTg p.A328V LGG 4 189068385 189068385 + Silent SNP C C T TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr4:189068385C>T c.1266C>T c.(1264-1266)aaC>aaT p.N422N LGG 4 189068521 189068521 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr4:189068521G>A c.1402G>A c.(1402-1404)Gtc>Atc p.V468I LIHC 4 189061021 189061021 + Silent SNP G G A TCGA-GJ-A9DB-01A-11D-A36X-10 TCGA-GJ-A9DB-10A-01D-A370-10 g.chr4:189061021G>A c.309G>A c.(307-309)aaG>aaA p.K103K LIHC 4 189061721 189061721 + Missense_Mutation SNP A A G TCGA-DD-AACS-01A-11D-A40R-10 TCGA-DD-AACS-10A-01D-A40U-10 g.chr4:189061721A>G c.448A>G c.(448-450)Aga>Gga p.R150G LIHC 4 189068011 189068011 + Missense_Mutation SNP T T A TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr4:189068011T>A c.892T>A c.(892-894)Tat>Aat p.Y298N LIHC 4 189068092 189068092 + Missense_Mutation SNP G G A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr4:189068092G>A c.973G>A c.(973-975)Gac>Aac p.D325N LUAD 4 189060757 189060757 + Silent SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr4:189060757C>A c.45C>A c.(43-45)acC>acA p.T15T LUAD 4 189060808 189060808 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr4:189060808G>T c.96G>T c.(94-96)ggG>ggT p.G32G LUAD 4 189060824 189060824 + Missense_Mutation SNP G G T TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr4:189060824G>T c.112G>T c.(112-114)Gtg>Ttg p.V38L LUAD 4 189060860 189060860 + Missense_Mutation SNP C C G TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr4:189060860C>G c.148C>G c.(148-150)Cct>Gct p.P50A LUAD 4 189060920 189060920 + Missense_Mutation SNP C C A TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr4:189060920C>A c.208C>A c.(208-210)Cgt>Agt p.R70S LUAD 4 189060940 189060940 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 g.chr4:189060940C>A c.228C>A c.(226-228)agC>agA p.S76R LUAD 4 189060940 189060940 + Missense_Mutation SNP C C G TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr4:189060940C>G c.228C>G c.(226-228)agC>agG p.S76R LUAD 4 189060977 189060977 + Nonsense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr4:189060977G>T c.265G>T c.(265-267)Gag>Tag p.E89* LUAD 4 189061091 189061091 + Missense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr4:189061091C>A c.379C>A c.(379-381)Ctc>Atc p.L127I LUAD 4 189061712 189061712 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr4:189061712C>T c.439C>T c.(439-441)Cgt>Tgt p.R147C LUAD 4 189061773 189061773 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr4:189061773G>T c.500G>T c.(499-501)tGc>tTc p.C167F LUAD 4 189063430 189063430 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr4:189063430G>A c.529G>A c.(529-531)Gtt>Att p.V177I LUAD 4 189063457 189063457 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr4:189063457C>A c.556C>A c.(556-558)Cac>Aac p.H186N LUAD 4 189063534 189063534 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 g.chr4:189063534G>A c.633G>A c.(631-633)ctG>ctA p.L211L LUAD 4 189063558 189063558 + Silent SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 g.chr4:189063558C>G c.657C>G c.(655-657)acC>acG p.T219T LUAD 4 189063588 189063588 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr4:189063588C>G c.687C>G c.(685-687)atC>atG p.I229M LUAD 4 189065004 189065004 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr4:189065004G>T c.748G>T c.(748-750)Gcc>Tcc p.A250S LUAD 4 189065202 189065202 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr4:189065202C>T c.771C>T c.(769-771)ctC>ctT p.L257L LUAD 4 189065212 189065212 + Missense_Mutation SNP T T C TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr4:189065212T>C c.781T>C c.(781-783)Tgt>Cgt p.C261R LUAD 4 189067976 189067976 + Splice_Site SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr4:189067976C>T c.857C>T c.(856-858)aCg>aTg p.T286M LUAD 4 189068081 189068081 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr4:189068081C>T c.962C>T c.(961-963)cCg>cTg p.P321L LUAD 4 189068113 189068113 + Missense_Mutation SNP G G C TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr4:189068113G>C c.994G>C c.(994-996)Ggt>Cgt p.G332R LUAD 4 189068134 189068134 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr4:189068134G>T c.1015G>T c.(1015-1017)Ggg>Tgg p.G339W LUAD 4 189068142 189068142 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr4:189068142C>A c.1023C>A c.(1021-1023)caC>caA p.H341Q LUAD 4 189068190 189068190 + Silent SNP C C A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr4:189068190C>A c.1071C>A c.(1069-1071)atC>atA p.I357I LUAD 4 189068192 189068192 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 g.chr4:189068192G>T c.1073G>T c.(1072-1074)tGc>tTc p.C358F LUAD 4 189068295 189068295 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr4:189068295G>T c.1176G>T c.(1174-1176)tcG>tcT p.S392S LUAD 4 189068316 189068316 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr4:189068316C>A c.1197C>A c.(1195-1197)caC>caA p.H399Q LUAD 4 189068317 189068317 + Missense_Mutation SNP G G T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr4:189068317G>T c.1198G>T c.(1198-1200)Gtc>Ttc p.V400F LUAD 4 189068468 189068468 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chr4:189068468C>A c.1349C>A c.(1348-1350)cCa>cAa p.P450Q LUAD 4 189068504 189068504 + Missense_Mutation SNP G G A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr4:189068504G>A c.1385G>A c.(1384-1386)tGc>tAc p.C462Y LUAD 4 189068505 189068505 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr4:189068505C>A c.1386C>A c.(1384-1386)tgC>tgA p.C462* LUAD 4 189068508 189068508 + Silent SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr4:189068508A>C c.1389A>C c.(1387-1389)tcA>tcC p.S463S LUAD 4 189068512 189068512 + Missense_Mutation SNP A A T TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr4:189068512A>T c.1393A>T c.(1393-1395)Aac>Tac p.N465Y LUSC 4 189060895 189060895 + Missense_Mutation SNP G G C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr4:189060895G>C c.183G>C c.(181-183)gaG>gaC p.E61D LUSC 4 189061083 189061083 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:189061083G>A c.371G>A c.(370-372)aGa>aAa p.R124K LUSC 4 189065190 189065190 + Splice_Site SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr4:189065190G>T c.759G>T c.(757-759)agG>agT p.R253S LUSC 4 189065213 189065213 + Missense_Mutation SNP G G T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 g.chr4:189065213G>T c.782G>T c.(781-783)tGt>tTt p.C261F LUSC 4 189065247 189065247 + Nonsense_Mutation SNP C C A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr4:189065247C>A c.816C>A c.(814-816)tgC>tgA p.C272* LUSC 4 189067976 189067976 + Splice_Site SNP C C A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 g.chr4:189067976C>A c.857C>A c.(856-858)aCg>aAg p.T286K LUSC 4 189067993 189067993 + Missense_Mutation SNP C C A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr4:189067993C>A c.874C>A c.(874-876)Cca>Aca p.P292T LUSC 4 189068016 189068016 + Silent SNP C C G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr4:189068016C>G c.897C>G c.(895-897)ctC>ctG p.L299L OV 4 189068431 189068431 + Nonsense_Mutation SNP C C T TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr4:189068431C>T c.1312C>T c.(1312-1314)Caa>Taa p.Q438* OV 4 189068438 189068438 + Frame_Shift_Del DEL C C - TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 g.chr4:189068438delC c.1319delC c.(1318-1320)gccfs p.A440fs OV 4 189068452 189068452 + Missense_Mutation SNP T T A TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 g.chr4:189068452T>A c.1333T>A c.(1333-1335)Ttt>Att p.F445I PAAD 4 189065010 189065010 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr4:189065010G>C c.754G>C c.(754-756)Gaa>Caa p.E252Q PAAD 4 189067986 189067986 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:189067986G>A c.867G>A c.(865-867)acG>acA p.T289T PCPG 4 189060901 189060901 + Silent SNP G G A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 g.chr4:189060901G>A c.189G>A c.(187-189)ccG>ccA p.P63P PCPG 4 189063419 189063419 + Missense_Mutation SNP C C A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 g.chr4:189063419C>A c.518C>A c.(517-519)aCt>aAt p.T173N PRAD 4 189060814 189060814 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:189060814C>A c.102C>A c.(100-102)agC>agA p.S34R PRAD 4 189060921 189060921 + Missense_Mutation SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 g.chr4:189060921G>A c.209G>A c.(208-210)cGt>cAt p.R70H PRAD 4 189061023 189061023 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 g.chr4:189061023C>T c.311C>T c.(310-312)gCg>gTg p.A104V READ 4 189063625 189063625 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:189063625G>A c.724G>A c.(724-726)Gaa>Aaa p.E242K SARC 4 189063511 189063511 + Nonsense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 g.chr4:189063511G>T c.610G>T c.(610-612)Gag>Tag p.E204* SKCM 4 189060749 189060749 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr4:189060749G>A c.37G>A c.(37-39)Gaa>Aaa p.E13K SKCM 4 189060821 189060821 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:189060821C>T c.109C>T c.(109-111)Ctg>Ttg p.L37L SKCM 4 189060833 189060833 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:189060833C>T c.121C>T c.(121-123)Ctc>Ttc p.L41F SKCM 4 189060889 189060889 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:189060889C>T c.177C>T c.(175-177)acC>acT p.T59T SKCM 4 189060954 189060954 + Missense_Mutation SNP T T A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr4:189060954T>A c.242T>A c.(241-243)cTc>cAc p.L81H SKCM 4 189060973 189060973 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:189060973G>A c.261G>A c.(259-261)caG>caA p.Q87Q SKCM 4 189060977 189060977 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr4:189060977G>A c.265G>A c.(265-267)Gag>Aag p.E89K SKCM 4 189061021 189061021 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr4:189061021G>A c.309G>A c.(307-309)aaG>aaA p.K103K SKCM 4 189061057 189061057 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr4:189061057C>T c.345C>T c.(343-345)ttC>ttT p.F115F SKCM 4 189061682 189061682 + Splice_Site SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr4:189061682G>A c.409G>A c.(409-411)Gag>Aag p.E137K SKCM 4 189061722 189061722 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:189061722G>A c.449G>A c.(448-450)aGa>aAa p.R150K SKCM 4 189061765 189061765 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr4:189061765G>A c.492G>A c.(490-492)gtG>gtA p.V164V SKCM 4 189063465 189063465 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr4:189063465C>T c.564C>T c.(562-564)ttC>ttT p.F188F SKCM 4 189063546 189063546 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr4:189063546G>A c.645G>A c.(643-645)gaG>gaA p.E215E SKCM 4 189064991 189064991 + Splice_Site SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr4:189064991G>A c.e4-1 SKCM 4 189065004 189065004 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:189065004G>A c.748G>A c.(748-750)Gcc>Acc p.A250T SKCM 4 189065010 189065010 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr4:189065010G>A c.754G>A c.(754-756)Gaa>Aaa p.E252K SKCM 4 189065014 189065014 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:189065014G>A c.758G>A c.(757-759)aGg>aAg p.R253K SKCM 4 189065209 189065209 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:189065209C>T c.778C>T c.(778-780)Cag>Tag p.Q260* SKCM 4 189065276 189065276 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:189065276G>A c.845G>A c.(844-846)aGa>aAa p.R282K SKCM 4 189068016 189068016 + Silent SNP C C T TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr4:189068016C>T c.897C>T c.(895-897)ctC>ctT p.L299L SKCM 4 189068016 189068016 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr4:189068016C>T c.897C>T c.(895-897)ctC>ctT p.L299L SKCM 4 189068052 189068052 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:189068052G>A c.933G>A c.(931-933)ggG>ggA p.G311G SKCM 4 189068082 189068082 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr4:189068082G>A c.963G>A c.(961-963)ccG>ccA p.P321P SKCM 4 189068185 189068185 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:189068185G>A c.1066G>A c.(1066-1068)Ggc>Agc p.G356S SKCM 4 189068190 189068190 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr4:189068190C>T c.1071C>T c.(1069-1071)atC>atT p.I357I SKCM 4 189068196 189068196 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr4:189068196G>A c.1077G>A c.(1075-1077)aaG>aaA p.K359K SKCM 4 189068214 189068214 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:189068214G>A c.1095G>A c.(1093-1095)aaG>aaA p.K365K SKCM 4 189068217 189068217 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:189068217G>A c.1098G>A c.(1096-1098)ggG>ggA p.G366G SKCM 4 189068223 189068223 + Silent SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr4:189068223C>T c.1104C>T c.(1102-1104)ctC>ctT p.L368L SKCM 4 189068223 189068223 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:189068223C>T c.1104C>T c.(1102-1104)ctC>ctT p.L368L SKCM 4 189068247 189068247 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:189068247C>T c.1128C>T c.(1126-1128)ttC>ttT p.F376F SKCM 4 189068272 189068272 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr4:189068272G>A c.1153G>A c.(1153-1155)Gat>Aat p.D385N SKCM 4 189068456 189068456 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr4:189068456C>T c.1337C>T c.(1336-1338)tCc>tTc p.S446F SKCM 4 189068456 189068456 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:189068456C>T c.1337C>T c.(1336-1338)tCc>tTc p.S446F SKCM 4 189068456 189068456 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr4:189068456C>T c.1337C>T c.(1336-1338)tCc>tTc p.S446F SKCM 4 189068457 189068457 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr4:189068457C>T c.1338C>T c.(1336-1338)tcC>tcT p.S446S SKCM 4 189068478 189068478 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:189068478G>T c.1359G>T c.(1357-1359)ggG>ggT p.G453G SKCM 4 189068515 189068515 + Missense_Mutation SNP A A T TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr4:189068515A>T c.1396A>T c.(1396-1398)Agc>Tgc p.S466C

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 4 189061726 189061726 single base substitution G A synonymous_variant K151K 453G>A BLCA-CN 4 189061726 189061726 single base substitution G A upstream_gene_variant BLCA-US 4 189061706 189061706 single base substitution C G missense_variant L145V 433C>G BLCA-US 4 189061706 189061706 single base substitution C G upstream_gene_variant BLCA-US 4 189068457 189068457 single base substitution C A exon_variant BLCA-US 4 189068457 189068457 single base substitution C A synonymous_variant S446S 1338C>A BOCA-FR 4 189060441 189060441 single base substitution C A upstream_gene_variant BOCA-FR 4 189060860 189060860 single base substitution C A missense_variant P50T 148C>A BOCA-FR 4 189060860 189060860 single base substitution C A upstream_gene_variant BRCA-EU 4 189055604 189055604 single base substitution T A upstream_gene_variant BRCA-EU 4 189056491 189056491 single base substitution C T upstream_gene_variant BRCA-EU 4 189056634 189056634 single base substitution T G upstream_gene_variant BRCA-EU 4 189057297 189057297 single base substitution G C upstream_gene_variant BRCA-EU 4 189058519 189058519 single base substitution G A upstream_gene_variant BRCA-EU 4 189060431 189060431 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 189061795 189061795 single base substitution T A intron_variant BRCA-EU 4 189061795 189061795 single base substitution T A upstream_gene_variant BRCA-EU 4 189062792 189062792 single base substitution A T intron_variant BRCA-EU 4 189062792 189062792 single base substitution A T upstream_gene_variant BRCA-EU 4 189063054 189063054 single base substitution C G intron_variant BRCA-EU 4 189063054 189063054 single base substitution C G upstream_gene_variant BRCA-EU 4 189065837 189065837 single base substitution G A intron_variant BRCA-EU 4 189066438 189066438 deletion of <=200bp A - intron_variant BRCA-EU 4 189067969 189067969 single base substitution C T intron_variant BRCA-EU 4 189068201 189068201 single base substitution C T exon_variant BRCA-EU 4 189068201 189068201 single base substitution C T missense_variant S361F 1082C>T BRCA-EU 4 189068474 189068474 single base substitution A T downstream_gene_variant BRCA-EU 4 189068474 189068474 single base substitution A T exon_variant BRCA-EU 4 189068474 189068474 single base substitution A T missense_variant E452V 1355A>T BRCA-EU 4 189069116 189069116 single base substitution T C downstream_gene_variant BRCA-EU 4 189069665 189069665 single base substitution G A downstream_gene_variant BRCA-EU 4 189070229 189070229 single base substitution G T downstream_gene_variant BRCA-EU 4 189070375 189070375 single base substitution G T downstream_gene_variant BRCA-EU 4 189071832 189071832 single base substitution A C downstream_gene_variant BRCA-FR 4 189057297 189057297 single base substitution G C upstream_gene_variant BRCA-FR 4 189063938 189063938 single base substitution T A intron_variant BRCA-FR 4 189063938 189063938 single base substitution T A upstream_gene_variant BRCA-FR 4 189065837 189065837 single base substitution G A intron_variant BRCA-FR 4 189070303 189070303 single base substitution G A downstream_gene_variant BRCA-UK 4 189061068 189061068 single base substitution G A missense_variant S119N 356G>A BRCA-UK 4 189061068 189061068 single base substitution G A upstream_gene_variant BRCA-UK 4 189068474 189068474 single base substitution A T downstream_gene_variant BRCA-UK 4 189068474 189068474 single base substitution A T exon_variant BRCA-UK 4 189068474 189068474 single base substitution A T missense_variant E452V 1355A>T BRCA-US 4 189061035 189061035 single base substitution A T missense_variant D108V 323A>T BRCA-US 4 189061035 189061035 single base substitution A T upstream_gene_variant BRCA-US 4 189064805 189064805 insertion of <=200bp - C exon_variant BRCA-US 4 189064805 189064805 insertion of <=200bp - C intron_variant BRCA-US 4 189064805 189064805 insertion of <=200bp - C upstream_gene_variant BRCA-US 4 189068190 189068190 single base substitution C T exon_variant BRCA-US 4 189068190 189068190 single base substitution C T synonymous_variant I357I 1071C>T BRCA-US 4 189068232 189068232 single base substitution A C exon_variant BRCA-US 4 189068232 189068232 single base substitution A C synonymous_variant P371P 1113A>C BRCA-US 4 189068235 189068235 single base substitution T A exon_variant BRCA-US 4 189068235 189068235 single base substitution T A synonymous_variant P372P 1116T>A BTCA-JP 4 189060623 189060623 single base substitution G A 5_prime_UTR_variant BTCA-JP 4 189060623 189060623 single base substitution G A upstream_gene_variant BTCA-JP 4 189061704 189061704 single base substitution A G missense_variant N144S 431A>G BTCA-JP 4 189061704 189061704 single base substitution A G upstream_gene_variant BTCA-JP 4 189061713 189061713 single base substitution G A missense_variant R147H 440G>A BTCA-JP 4 189061713 189061713 single base substitution G A upstream_gene_variant BTCA-JP 4 189061823 189061823 single base substitution G A intron_variant BTCA-JP 4 189061823 189061823 single base substitution G A upstream_gene_variant BTCA-JP 4 189061856 189061856 deletion of <=200bp A - intron_variant BTCA-JP 4 189061856 189061856 deletion of <=200bp A - upstream_gene_variant BTCA-JP 4 189064844 189064844 single base substitution C T exon_variant BTCA-JP 4 189064844 189064844 single base substitution C T intron_variant BTCA-JP 4 189068683 189068683 single base substitution A T 3_prime_UTR_variant BTCA-JP 4 189068683 189068683 single base substitution A T downstream_gene_variant BTCA-JP 4 189068683 189068683 single base substitution A T exon_variant CESC-US 4 189060882 189060882 single base substitution G A stop_gained W57* 170G>A CESC-US 4 189060882 189060882 single base substitution G A upstream_gene_variant CESC-US 4 189061706 189061706 single base substitution C G missense_variant L145V 433C>G CESC-US 4 189061706 189061706 single base substitution C G upstream_gene_variant CESC-US 4 189068346 189068346 single base substitution C T exon_variant CESC-US 4 189068346 189068346 single base substitution C T synonymous_variant V409V 1227C>T CLLE-ES 4 189060731 189060731 single base substitution A C missense_variant M7L 19A>C CLLE-ES 4 189060731 189060731 single base substitution A C upstream_gene_variant CLLE-ES 4 189061100 189061100 single base substitution G A missense_variant E130K 388G>A CLLE-ES 4 189061100 189061100 single base substitution G A upstream_gene_variant CLLE-ES 4 189061415 189061415 single base substitution C G intron_variant CLLE-ES 4 189061415 189061415 single base substitution C G upstream_gene_variant CLLE-ES 4 189064490 189064490 single base substitution G A intron_variant CLLE-ES 4 189064490 189064490 single base substitution G A upstream_gene_variant CLLE-ES 4 189067603 189067603 single base substitution G A intron_variant COAD-US 4 189060961 189060961 single base substitution C A synonymous_variant S83S 249C>A COAD-US 4 189060961 189060961 single base substitution C A upstream_gene_variant COAD-US 4 189061074 189061074 single base substitution G A missense_variant G121D 362G>A COAD-US 4 189061074 189061074 single base substitution G A upstream_gene_variant COAD-US 4 189061106 189061106 single base substitution G A missense_variant E132K 394G>A COAD-US 4 189061106 189061106 single base substitution G A upstream_gene_variant COAD-US 4 189063558 189063558 single base substitution C T synonymous_variant T219T 657C>T COAD-US 4 189063558 189063558 single base substitution C T upstream_gene_variant COAD-US 4 189068144 189068144 single base substitution A G exon_variant COAD-US 4 189068144 189068144 single base substitution A G missense_variant Y342C 1025A>G COCA-CN 4 189063378 189063378 single base substitution G A intron_variant COCA-CN 4 189063378 189063378 single base substitution G A upstream_gene_variant COCA-CN 4 189065104 189065104 single base substitution T G intron_variant COCA-CN 4 189065265 189065265 single base substitution G T exon_variant COCA-CN 4 189065265 189065265 single base substitution G T missense_variant K278N 834G>T COCA-CN 4 189065574 189065574 single base substitution G T intron_variant COCA-CN 4 189068024 189068024 single base substitution C T exon_variant COCA-CN 4 189068024 189068024 single base substitution C T missense_variant S302L 905C>T COCA-CN 4 189068269 189068269 single base substitution G A exon_variant COCA-CN 4 189068269 189068269 single base substitution G A missense_variant G384R 1150G>A COCA-CN 4 189068385 189068385 single base substitution C T exon_variant COCA-CN 4 189068385 189068385 single base substitution C T synonymous_variant N422N 1266C>T COCA-CN 4 189068390 189068390 single base substitution C T exon_variant COCA-CN 4 189068390 189068390 single base substitution C T missense_variant T424M 1271C>T ESAD-UK 4 189056106 189056106 single base substitution T G upstream_gene_variant ESAD-UK 4 189056817 189056817 single base substitution G A upstream_gene_variant ESAD-UK 4 189057057 189057057 single base substitution T G upstream_gene_variant ESAD-UK 4 189057318 189057318 single base substitution G T upstream_gene_variant ESAD-UK 4 189057597 189057597 single base substitution T A upstream_gene_variant ESAD-UK 4 189057614 189057614 single base substitution C T upstream_gene_variant ESAD-UK 4 189057900 189057900 single base substitution G A upstream_gene_variant ESAD-UK 4 189058266 189058266 single base substitution G A upstream_gene_variant ESAD-UK 4 189058583 189058583 single base substitution A C upstream_gene_variant ESAD-UK 4 189058695 189058695 single base substitution G T upstream_gene_variant ESAD-UK 4 189059385 189059385 single base substitution T G upstream_gene_variant ESAD-UK 4 189059645 189059645 single base substitution G A upstream_gene_variant ESAD-UK 4 189060065 189060065 single base substitution T G upstream_gene_variant ESAD-UK 4 189060164 189060164 single base substitution A C upstream_gene_variant ESAD-UK 4 189060297 189060297 single base substitution A C upstream_gene_variant ESAD-UK 4 189060299 189060299 single base substitution T G upstream_gene_variant ESAD-UK 4 189060308 189060308 single base substitution T C upstream_gene_variant ESAD-UK 4 189060359 189060359 single base substitution T A upstream_gene_variant ESAD-UK 4 189060517 189060517 single base substitution A T upstream_gene_variant ESAD-UK 4 189060593 189060593 single base substitution T G 5_prime_UTR_variant ESAD-UK 4 189060593 189060593 single base substitution T G upstream_gene_variant ESAD-UK 4 189061270 189061270 deletion of <=200bp T - intron_variant ESAD-UK 4 189061270 189061270 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 189061423 189061423 single base substitution C T intron_variant ESAD-UK 4 189061423 189061423 single base substitution C T upstream_gene_variant ESAD-UK 4 189061444 189061444 single base substitution T G intron_variant ESAD-UK 4 189061444 189061444 single base substitution T G upstream_gene_variant ESAD-UK 4 189061519 189061519 single base substitution G A intron_variant ESAD-UK 4 189061519 189061519 single base substitution G A upstream_gene_variant ESAD-UK 4 189061793 189061793 single base substitution A G intron_variant ESAD-UK 4 189061793 189061793 single base substitution A G upstream_gene_variant ESAD-UK 4 189061837 189061837 single base substitution A C intron_variant ESAD-UK 4 189061837 189061837 single base substitution A C upstream_gene_variant ESAD-UK 4 189062625 189062625 single base substitution C A intron_variant ESAD-UK 4 189062625 189062625 single base substitution C A upstream_gene_variant ESAD-UK 4 189062651 189062651 single base substitution G T intron_variant ESAD-UK 4 189062651 189062651 single base substitution G T upstream_gene_variant ESAD-UK 4 189062787 189062787 single base substitution T C intron_variant ESAD-UK 4 189062787 189062787 single base substitution T C upstream_gene_variant ESAD-UK 4 189062882 189062882 single base substitution G A intron_variant ESAD-UK 4 189062882 189062882 single base substitution G A upstream_gene_variant ESAD-UK 4 189063018 189063018 single base substitution G T intron_variant ESAD-UK 4 189063018 189063018 single base substitution G T upstream_gene_variant ESAD-UK 4 189063736 189063736 single base substitution A C intron_variant ESAD-UK 4 189063736 189063736 single base substitution A C upstream_gene_variant ESAD-UK 4 189063813 189063815 deletion of <=200bp AGA - intron_variant ESAD-UK 4 189063813 189063815 deletion of <=200bp AGA - upstream_gene_variant ESAD-UK 4 189064376 189064376 single base substitution A C intron_variant ESAD-UK 4 189064376 189064376 single base substitution A C upstream_gene_variant ESAD-UK 4 189064623 189064623 single base substitution G T intron_variant ESAD-UK 4 189064623 189064623 single base substitution G T upstream_gene_variant ESAD-UK 4 189065312 189065312 single base substitution C A intron_variant ESAD-UK 4 189065315 189065315 single base substitution C A intron_variant ESAD-UK 4 189066119 189066119 single base substitution A C intron_variant ESAD-UK 4 189066206 189066206 single base substitution T G intron_variant ESAD-UK 4 189066245 189066245 single base substitution T C intron_variant ESAD-UK 4 189066358 189066358 single base substitution A T intron_variant ESAD-UK 4 189066920 189066920 single base substitution A G intron_variant ESAD-UK 4 189067980 189067980 single base substitution G A exon_variant ESAD-UK 4 189067980 189067980 single base substitution G A synonymous_variant E287E 861G>A ESAD-UK 4 189068507 189068507 single base substitution C G downstream_gene_variant ESAD-UK 4 189068507 189068507 single base substitution C G exon_variant ESAD-UK 4 189068507 189068507 single base substitution C G stop_gained S463* 1388C>G ESAD-UK 4 189069531 189069531 single base substitution T C downstream_gene_variant ESAD-UK 4 189069576 189069576 single base substitution C T downstream_gene_variant ESAD-UK 4 189069596 189069596 single base substitution G A downstream_gene_variant ESAD-UK 4 189069849 189069849 single base substitution G A downstream_gene_variant ESAD-UK 4 189070500 189070500 single base substitution A G downstream_gene_variant ESAD-UK 4 189070547 189070547 single base substitution G A downstream_gene_variant ESAD-UK 4 189070761 189070761 single base substitution G A downstream_gene_variant ESAD-UK 4 189071307 189071307 single base substitution T G downstream_gene_variant ESAD-UK 4 189071529 189071529 single base substitution C T downstream_gene_variant ESAD-UK 4 189071573 189071573 single base substitution G A downstream_gene_variant ESAD-UK 4 189071703 189071703 single base substitution G C downstream_gene_variant ESCA-CN 4 189068295 189068295 single base substitution G A exon_variant ESCA-CN 4 189068295 189068295 single base substitution G A synonymous_variant S392S 1176G>A ESCA-CN 4 189068390 189068390 single base substitution C T exon_variant ESCA-CN 4 189068390 189068390 single base substitution C T missense_variant T424M 1271C>T GBM-US 4 189060967 189060967 single base substitution G A synonymous_variant V85V 255G>A GBM-US 4 189060967 189060967 single base substitution G A upstream_gene_variant GBM-US 4 189063477 189063477 single base substitution G C missense_variant E192D 576G>C GBM-US 4 189063477 189063477 single base substitution G C upstream_gene_variant GBM-US 4 189065255 189065255 single base substitution C T exon_variant GBM-US 4 189065255 189065255 single base substitution C T missense_variant T275M 824C>T GBM-US 4 189068016 189068016 single base substitution C T exon_variant GBM-US 4 189068016 189068016 single base substitution C T synonymous_variant L299L 897C>T GBM-US 4 189068102 189068102 single base substitution C T exon_variant GBM-US 4 189068102 189068102 single base substitution C T missense_variant A328V 983C>T GBM-US 4 189068289 189068289 single base substitution G T exon_variant GBM-US 4 189068289 189068289 single base substitution G T missense_variant W390C 1170G>T GBM-US 4 189068417 189068417 single base substitution C T exon_variant GBM-US 4 189068417 189068417 single base substitution C T missense_variant P433L 1298C>T LAML-KR 4 189064873 189064873 single base substitution C T exon_variant LAML-KR 4 189064873 189064873 single base substitution C T intron_variant LAML-KR 4 189064952 189064952 single base substitution C G exon_variant LAML-KR 4 189064952 189064952 single base substitution C G intron_variant LAML-KR 4 189065055 189065055 single base substitution C G intron_variant LAML-KR 4 189073507 189073507 single base substitution A T downstream_gene_variant LGG-US 4 189061052 189061052 single base substitution G A missense_variant A114T 340G>A LGG-US 4 189061052 189061052 single base substitution G A upstream_gene_variant LGG-US 4 189065196 189065196 single base substitution G A exon_variant LGG-US 4 189065196 189065196 single base substitution G A synonymous_variant E255E 765G>A LGG-US 4 189068521 189068521 single base substitution G A downstream_gene_variant LGG-US 4 189068521 189068521 single base substitution G A exon_variant LGG-US 4 189068521 189068521 single base substitution G A missense_variant V468I 1402G>A LICA-CN 4 189068119 189068119 single base substitution C A exon_variant LICA-CN 4 189068119 189068119 single base substitution C A missense_variant Q334K 1000C>A LICA-CN 4 189068405 189068405 single base substitution T A exon_variant LICA-CN 4 189068405 189068405 single base substitution T A missense_variant I429N 1286T>A LICA-FR 4 189059995 189059995 single base substitution T C upstream_gene_variant LICA-FR 4 189062116 189062116 single base substitution A G intron_variant LICA-FR 4 189062116 189062116 single base substitution A G upstream_gene_variant LICA-FR 4 189068072 189068072 single base substitution C A exon_variant LICA-FR 4 189068072 189068072 single base substitution C A missense_variant P318H 953C>A LICA-FR 4 189070460 189070460 single base substitution T C downstream_gene_variant LIHC-US 4 189068092 189068092 single base substitution G A exon_variant LIHC-US 4 189068092 189068092 single base substitution G A missense_variant D325N 973G>A LINC-JP 4 189057162 189057162 insertion of <=200bp - T upstream_gene_variant LINC-JP 4 189061551 189061551 single base substitution C T intron_variant LINC-JP 4 189061551 189061551 single base substitution C T upstream_gene_variant LINC-JP 4 189061632 189061632 single base substitution A T intron_variant LINC-JP 4 189061632 189061632 single base substitution A T upstream_gene_variant LINC-JP 4 189065150 189065150 single base substitution C T intron_variant LINC-JP 4 189066852 189066852 single base substitution A T intron_variant LINC-JP 4 189066996 189066996 single base substitution G A intron_variant LINC-JP 4 189068010 189068010 single base substitution C T exon_variant LINC-JP 4 189068010 189068010 single base substitution C T synonymous_variant A297A 891C>T LINC-JP 4 189068170 189068170 single base substitution A T exon_variant LINC-JP 4 189068170 189068170 single base substitution A T missense_variant T351S 1051A>T LINC-JP 4 189068552 189068552 single base substitution G A 3_prime_UTR_variant LINC-JP 4 189068552 189068552 single base substitution G A downstream_gene_variant LINC-JP 4 189068552 189068552 single base substitution G A exon_variant LINC-JP 4 189070055 189070055 single base substitution C T downstream_gene_variant LIRI-JP 4 189056036 189056036 single base substitution C T upstream_gene_variant LIRI-JP 4 189056246 189056246 single base substitution C A upstream_gene_variant LIRI-JP 4 189056806 189056806 single base substitution T G upstream_gene_variant LIRI-JP 4 189057077 189057077 single base substitution T G upstream_gene_variant LIRI-JP 4 189057947 189057947 single base substitution C T upstream_gene_variant LIRI-JP 4 189058038 189058038 single base substitution T C upstream_gene_variant LIRI-JP 4 189059198 189059198 single base substitution C A upstream_gene_variant LIRI-JP 4 189059299 189059299 single base substitution A T upstream_gene_variant LIRI-JP 4 189059591 189059591 single base substitution C T upstream_gene_variant LIRI-JP 4 189060425 189060425 single base substitution C T upstream_gene_variant LIRI-JP 4 189060581 189060581 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 189060581 189060581 single base substitution G A upstream_gene_variant LIRI-JP 4 189061169 189061169 single base substitution C T intron_variant LIRI-JP 4 189061169 189061169 single base substitution C T upstream_gene_variant LIRI-JP 4 189061201 189061201 single base substitution T C intron_variant LIRI-JP 4 189061201 189061201 single base substitution T C upstream_gene_variant LIRI-JP 4 189061368 189061368 single base substitution A G intron_variant LIRI-JP 4 189061368 189061368 single base substitution A G upstream_gene_variant LIRI-JP 4 189061932 189061932 single base substitution C A intron_variant LIRI-JP 4 189061932 189061932 single base substitution C A upstream_gene_variant LIRI-JP 4 189061967 189061967 single base substitution C G intron_variant LIRI-JP 4 189061967 189061967 single base substitution C G upstream_gene_variant LIRI-JP 4 189062149 189062149 single base substitution G T intron_variant LIRI-JP 4 189062149 189062149 single base substitution G T upstream_gene_variant LIRI-JP 4 189062150 189062150 single base substitution A G intron_variant LIRI-JP 4 189062150 189062150 single base substitution A G upstream_gene_variant LIRI-JP 4 189062707 189062707 single base substitution T C intron_variant LIRI-JP 4 189062707 189062707 single base substitution T C upstream_gene_variant LIRI-JP 4 189063027 189063027 single base substitution G A intron_variant LIRI-JP 4 189063027 189063027 single base substitution G A upstream_gene_variant LIRI-JP 4 189063166 189063166 single base substitution G T intron_variant LIRI-JP 4 189063166 189063166 single base substitution G T upstream_gene_variant LIRI-JP 4 189064083 189064083 single base substitution T A intron_variant LIRI-JP 4 189064083 189064083 single base substitution T A upstream_gene_variant LIRI-JP 4 189065057 189065057 single base substitution G T intron_variant LIRI-JP 4 189065082 189065082 single base substitution G A intron_variant LIRI-JP 4 189065424 189065424 single base substitution G A intron_variant LIRI-JP 4 189065862 189065862 single base substitution C A intron_variant LIRI-JP 4 189065949 189065949 single base substitution T C intron_variant LIRI-JP 4 189066313 189066313 single base substitution C A intron_variant LIRI-JP 4 189066749 189066749 single base substitution G C intron_variant LIRI-JP 4 189067997 189067997 single base substitution C G exon_variant LIRI-JP 4 189067997 189067997 single base substitution C G missense_variant A293G 878C>G LIRI-JP 4 189068005 189068005 single base substitution A T exon_variant LIRI-JP 4 189068005 189068005 single base substitution A T missense_variant N296Y 886A>T LIRI-JP 4 189069467 189069467 single base substitution G A downstream_gene_variant LIRI-JP 4 189069692 189069692 single base substitution A T downstream_gene_variant LIRI-JP 4 189070130 189070130 single base substitution C A downstream_gene_variant LIRI-JP 4 189070220 189070220 single base substitution A T downstream_gene_variant LIRI-JP 4 189070430 189070430 single base substitution A G downstream_gene_variant LIRI-JP 4 189070527 189070527 single base substitution T C downstream_gene_variant LIRI-JP 4 189071023 189071023 single base substitution C A downstream_gene_variant LIRI-JP 4 189071121 189071121 single base substitution C A downstream_gene_variant LIRI-JP 4 189071168 189071168 single base substitution C A downstream_gene_variant LIRI-JP 4 189071572 189071572 single base substitution C T downstream_gene_variant LIRI-JP 4 189071721 189071721 single base substitution A G downstream_gene_variant LUSC-KR 4 189056033 189056033 single base substitution T A upstream_gene_variant LUSC-KR 4 189056483 189056483 single base substitution C A upstream_gene_variant LUSC-KR 4 189060610 189060610 single base substitution G C 5_prime_UTR_variant LUSC-KR 4 189060610 189060610 single base substitution G C upstream_gene_variant LUSC-KR 4 189060623 189060623 single base substitution G A 5_prime_UTR_variant LUSC-KR 4 189060623 189060623 single base substitution G A upstream_gene_variant LUSC-KR 4 189061318 189061318 single base substitution C A intron_variant LUSC-KR 4 189061318 189061318 single base substitution C A upstream_gene_variant LUSC-KR 4 189061823 189061823 single base substitution G A intron_variant LUSC-KR 4 189061823 189061823 single base substitution G A upstream_gene_variant LUSC-KR 4 189062339 189062339 single base substitution G T intron_variant LUSC-KR 4 189062339 189062339 single base substitution G T upstream_gene_variant LUSC-KR 4 189062616 189062616 single base substitution G A intron_variant LUSC-KR 4 189062616 189062616 single base substitution G A upstream_gene_variant LUSC-KR 4 189062796 189062796 single base substitution T A intron_variant LUSC-KR 4 189062796 189062796 single base substitution T A upstream_gene_variant LUSC-KR 4 189063376 189063376 single base substitution G A intron_variant LUSC-KR 4 189063376 189063376 single base substitution G A upstream_gene_variant LUSC-KR 4 189064860 189064860 single base substitution C A exon_variant LUSC-KR 4 189064860 189064860 single base substitution C A intron_variant LUSC-KR 4 189065128 189065128 single base substitution T C intron_variant LUSC-KR 4 189065505 189065505 single base substitution T G intron_variant LUSC-KR 4 189065743 189065743 single base substitution C A intron_variant LUSC-KR 4 189068321 189068321 single base substitution G A exon_variant LUSC-KR 4 189068321 189068321 single base substitution G A missense_variant R401K 1202G>A LUSC-KR 4 189068809 189068809 single base substitution C T downstream_gene_variant LUSC-KR 4 189068809 189068809 single base substitution C T exon_variant LUSC-KR 4 189069717 189069717 single base substitution T A downstream_gene_variant LUSC-KR 4 189071144 189071144 single base substitution G T downstream_gene_variant LUSC-KR 4 189071678 189071678 single base substitution C A downstream_gene_variant LUSC-KR 4 189073378 189073378 single base substitution G A downstream_gene_variant LUSC-KR 4 189073668 189073668 single base substitution A G downstream_gene_variant LUSC-US 4 189060895 189060895 single base substitution G C missense_variant E61D 183G>C LUSC-US 4 189060895 189060895 single base substitution G C upstream_gene_variant LUSC-US 4 189061083 189061083 single base substitution G A missense_variant R124K 371G>A LUSC-US 4 189061083 189061083 single base substitution G A upstream_gene_variant LUSC-US 4 189065190 189065190 single base substitution G T missense_variant R253S 759G>T LUSC-US 4 189065190 189065190 single base substitution G T splice_region_variant LUSC-US 4 189065213 189065213 single base substitution G T exon_variant LUSC-US 4 189065213 189065213 single base substitution G T missense_variant C261F 782G>T LUSC-US 4 189065247 189065247 single base substitution C A exon_variant LUSC-US 4 189065247 189065247 single base substitution C A stop_gained C272* 816C>A LUSC-US 4 189067976 189067976 single base substitution C A missense_variant T286K 857C>A LUSC-US 4 189067976 189067976 single base substitution C A splice_region_variant LUSC-US 4 189067993 189067993 single base substitution C A exon_variant LUSC-US 4 189067993 189067993 single base substitution C A missense_variant P292T 874C>A LUSC-US 4 189068016 189068016 single base substitution C G exon_variant LUSC-US 4 189068016 189068016 single base substitution C G synonymous_variant L299L 897C>G MALY-DE 4 189055748 189055748 single base substitution C A upstream_gene_variant MALY-DE 4 189057589 189057589 single base substitution C T upstream_gene_variant MALY-DE 4 189058140 189058140 single base substitution A G upstream_gene_variant MALY-DE 4 189059221 189059221 single base substitution T A upstream_gene_variant MALY-DE 4 189060080 189060080 single base substitution C A upstream_gene_variant MALY-DE 4 189062605 189062605 single base substitution C G intron_variant MALY-DE 4 189062605 189062605 single base substitution C G upstream_gene_variant MALY-DE 4 189063815 189063815 deletion of <=200bp A - intron_variant MALY-DE 4 189063815 189063815 deletion of <=200bp A - upstream_gene_variant MALY-DE 4 189063873 189063873 single base substitution A C intron_variant MALY-DE 4 189063873 189063873 single base substitution A C upstream_gene_variant MALY-DE 4 189063965 189063965 single base substitution A C intron_variant MALY-DE 4 189063965 189063965 single base substitution A C upstream_gene_variant MALY-DE 4 189064804 189064804 single base substitution C G exon_variant MALY-DE 4 189064804 189064804 single base substitution C G intron_variant MALY-DE 4 189064804 189064804 single base substitution C G upstream_gene_variant MALY-DE 4 189065326 189065326 single base substitution G T intron_variant MALY-DE 4 189067714 189067714 single base substitution C T intron_variant MALY-DE 4 189067841 189067841 single base substitution G A intron_variant MALY-DE 4 189068015 189068015 single base substitution T G exon_variant MALY-DE 4 189068015 189068015 single base substitution T G missense_variant L299R 896T>G MALY-DE 4 189069127 189069127 single base substitution C G downstream_gene_variant MALY-DE 4 189071019 189071019 single base substitution C G downstream_gene_variant MELA-AU 4 189055820 189055820 single base substitution G A upstream_gene_variant MELA-AU 4 189055881 189055881 single base substitution C T upstream_gene_variant MELA-AU 4 189055912 189055912 single base substitution C T upstream_gene_variant MELA-AU 4 189055913 189055913 single base substitution G A upstream_gene_variant MELA-AU 4 189055927 189055927 single base substitution C T upstream_gene_variant MELA-AU 4 189056077 189056077 single base substitution A C upstream_gene_variant MELA-AU 4 189056101 189056101 single base substitution C T upstream_gene_variant MELA-AU 4 189056109 189056109 single base substitution G A upstream_gene_variant MELA-AU 4 189056226 189056226 single base substitution C T upstream_gene_variant MELA-AU 4 189056277 189056277 single base substitution C T upstream_gene_variant MELA-AU 4 189056289 189056289 single base substitution G A upstream_gene_variant MELA-AU 4 189056345 189056345 single base substitution G A upstream_gene_variant MELA-AU 4 189056419 189056420 multiple base substitution (>=2bp and <=200bp) TC GT upstream_gene_variant MELA-AU 4 189056790 189056790 single base substitution C T upstream_gene_variant MELA-AU 4 189056823 189056823 single base substitution C T upstream_gene_variant MELA-AU 4 189056847 189056847 single base substitution C T upstream_gene_variant MELA-AU 4 189056860 189056860 single base substitution G A upstream_gene_variant MELA-AU 4 189056982 189056982 single base substitution G A upstream_gene_variant MELA-AU 4 189057200 189057200 single base substitution G A upstream_gene_variant MELA-AU 4 189057363 189057363 single base substitution C T upstream_gene_variant MELA-AU 4 189057463 189057463 single base substitution C T upstream_gene_variant MELA-AU 4 189057648 189057648 single base substitution G A upstream_gene_variant MELA-AU 4 189057783 189057783 single base substitution G A upstream_gene_variant MELA-AU 4 189057842 189057842 single base substitution G A upstream_gene_variant MELA-AU 4 189057843 189057843 single base substitution G A upstream_gene_variant MELA-AU 4 189057851 189057851 single base substitution C T upstream_gene_variant MELA-AU 4 189057975 189057975 single base substitution G A upstream_gene_variant MELA-AU 4 189057982 189057982 single base substitution A T upstream_gene_variant MELA-AU 4 189058124 189058124 single base substitution G A upstream_gene_variant MELA-AU 4 189058183 189058183 single base substitution G A upstream_gene_variant MELA-AU 4 189058215 189058215 single base substitution G A upstream_gene_variant MELA-AU 4 189058256 189058256 single base substitution G A upstream_gene_variant MELA-AU 4 189058336 189058336 single base substitution G A upstream_gene_variant MELA-AU 4 189058376 189058376 single base substitution G A upstream_gene_variant MELA-AU 4 189058520 189058520 single base substitution G A upstream_gene_variant MELA-AU 4 189058567 189058567 single base substitution C T upstream_gene_variant MELA-AU 4 189058695 189058695 single base substitution G A upstream_gene_variant MELA-AU 4 189058859 189058859 single base substitution G A upstream_gene_variant MELA-AU 4 189058938 189058938 single base substitution C T upstream_gene_variant MELA-AU 4 189058982 189058982 single base substitution G A upstream_gene_variant MELA-AU 4 189059064 189059064 single base substitution G A upstream_gene_variant MELA-AU 4 189059239 189059239 single base substitution C T upstream_gene_variant MELA-AU 4 189059285 189059285 single base substitution G A upstream_gene_variant MELA-AU 4 189059285 189059285 single base substitution G T upstream_gene_variant MELA-AU 4 189059294 189059294 single base substitution G A upstream_gene_variant MELA-AU 4 189059335 189059335 single base substitution T A upstream_gene_variant MELA-AU 4 189059393 189059393 single base substitution C T upstream_gene_variant MELA-AU 4 189059441 189059441 single base substitution G T upstream_gene_variant MELA-AU 4 189059515 189059515 single base substitution C T upstream_gene_variant MELA-AU 4 189059534 189059534 single base substitution G A upstream_gene_variant MELA-AU 4 189059571 189059571 single base substitution G A upstream_gene_variant MELA-AU 4 189059576 189059576 single base substitution C T upstream_gene_variant MELA-AU 4 189059610 189059610 single base substitution G A upstream_gene_variant MELA-AU 4 189059773 189059773 single base substitution G A upstream_gene_variant MELA-AU 4 189059793 189059793 single base substitution C T upstream_gene_variant MELA-AU 4 189059845 189059845 single base substitution G A upstream_gene_variant MELA-AU 4 189059868 189059868 single base substitution A G upstream_gene_variant MELA-AU 4 189060041 189060041 single base substitution C T upstream_gene_variant MELA-AU 4 189060071 189060071 single base substitution G A upstream_gene_variant MELA-AU 4 189060154 189060154 single base substitution G A upstream_gene_variant MELA-AU 4 189060244 189060244 single base substitution C T upstream_gene_variant MELA-AU 4 189060250 189060251 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 4 189060283 189060283 single base substitution T A upstream_gene_variant MELA-AU 4 189060352 189060352 single base substitution C T upstream_gene_variant MELA-AU 4 189060414 189060414 single base substitution C T upstream_gene_variant MELA-AU 4 189060432 189060432 single base substitution C T upstream_gene_variant MELA-AU 4 189060513 189060513 single base substitution C T upstream_gene_variant MELA-AU 4 189060568 189060568 single base substitution C T upstream_gene_variant MELA-AU 4 189060977 189060977 single base substitution G A missense_variant E89K 265G>A MELA-AU 4 189060977 189060977 single base substitution G A upstream_gene_variant MELA-AU 4 189061057 189061057 single base substitution C T synonymous_variant F115F 345C>T MELA-AU 4 189061057 189061057 single base substitution C T upstream_gene_variant MELA-AU 4 189061074 189061074 single base substitution G A missense_variant G121D 362G>A MELA-AU 4 189061074 189061074 single base substitution G A upstream_gene_variant MELA-AU 4 189061168 189061168 single base substitution C T intron_variant MELA-AU 4 189061168 189061168 single base substitution C T upstream_gene_variant MELA-AU 4 189061189 189061189 single base substitution C T intron_variant MELA-AU 4 189061189 189061189 single base substitution C T upstream_gene_variant MELA-AU 4 189061222 189061222 single base substitution C T intron_variant MELA-AU 4 189061222 189061222 single base substitution C T upstream_gene_variant MELA-AU 4 189061546 189061546 single base substitution G A intron_variant MELA-AU 4 189061546 189061546 single base substitution G A upstream_gene_variant MELA-AU 4 189061599 189061599 single base substitution G A intron_variant MELA-AU 4 189061599 189061599 single base substitution G A upstream_gene_variant MELA-AU 4 189061620 189061620 single base substitution C T intron_variant MELA-AU 4 189061620 189061620 single base substitution C T upstream_gene_variant MELA-AU 4 189061700 189061700 single base substitution C T synonymous_variant L143L 427C>T MELA-AU 4 189061700 189061700 single base substitution C T upstream_gene_variant MELA-AU 4 189061877 189061877 single base substitution C T intron_variant MELA-AU 4 189061877 189061877 single base substitution C T upstream_gene_variant MELA-AU 4 189061905 189061905 single base substitution C T intron_variant MELA-AU 4 189061905 189061905 single base substitution C T upstream_gene_variant MELA-AU 4 189061956 189061956 single base substitution C T intron_variant MELA-AU 4 189061956 189061956 single base substitution C T upstream_gene_variant MELA-AU 4 189062502 189062502 single base substitution T C intron_variant MELA-AU 4 189062502 189062502 single base substitution T C upstream_gene_variant MELA-AU 4 189062540 189062540 single base substitution G A intron_variant MELA-AU 4 189062540 189062540 single base substitution G A upstream_gene_variant MELA-AU 4 189062578 189062578 single base substitution C T intron_variant MELA-AU 4 189062578 189062578 single base substitution C T upstream_gene_variant MELA-AU 4 189062608 189062608 single base substitution C T intron_variant MELA-AU 4 189062608 189062608 single base substitution C T upstream_gene_variant MELA-AU 4 189062894 189062894 single base substitution G A intron_variant MELA-AU 4 189062894 189062894 single base substitution G A upstream_gene_variant MELA-AU 4 189062970 189062970 single base substitution G A intron_variant MELA-AU 4 189062970 189062970 single base substitution G A upstream_gene_variant MELA-AU 4 189062980 189062980 single base substitution G A intron_variant MELA-AU 4 189062980 189062980 single base substitution G A upstream_gene_variant MELA-AU 4 189062990 189062990 single base substitution G A intron_variant MELA-AU 4 189062990 189062990 single base substitution G A upstream_gene_variant MELA-AU 4 189063014 189063014 single base substitution C T intron_variant MELA-AU 4 189063014 189063014 single base substitution C T upstream_gene_variant MELA-AU 4 189063042 189063042 single base substitution G A intron_variant MELA-AU 4 189063042 189063042 single base substitution G A upstream_gene_variant MELA-AU 4 189063519 189063519 single base substitution G A synonymous_variant E206E 618G>A MELA-AU 4 189063519 189063519 single base substitution G A upstream_gene_variant MELA-AU 4 189063625 189063625 single base substitution G A missense_variant E242K 724G>A MELA-AU 4 189063625 189063625 single base substitution G A upstream_gene_variant MELA-AU 4 189063765 189063765 single base substitution G A intron_variant MELA-AU 4 189063765 189063765 single base substitution G A upstream_gene_variant MELA-AU 4 189063808 189063808 single base substitution G A intron_variant MELA-AU 4 189063808 189063808 single base substitution G A upstream_gene_variant MELA-AU 4 189063913 189063913 deletion of <=200bp A - intron_variant MELA-AU 4 189063913 189063913 deletion of <=200bp A - upstream_gene_variant MELA-AU 4 189064001 189064001 single base substitution C T intron_variant MELA-AU 4 189064001 189064001 single base substitution C T upstream_gene_variant MELA-AU 4 189064013 189064013 single base substitution G A intron_variant MELA-AU 4 189064013 189064013 single base substitution G A upstream_gene_variant MELA-AU 4 189064077 189064077 single base substitution C T intron_variant MELA-AU 4 189064077 189064077 single base substitution C T upstream_gene_variant MELA-AU 4 189064345 189064345 single base substitution G A intron_variant MELA-AU 4 189064345 189064345 single base substitution G A upstream_gene_variant MELA-AU 4 189064424 189064424 single base substitution G A intron_variant MELA-AU 4 189064424 189064424 single base substitution G A upstream_gene_variant MELA-AU 4 189064549 189064549 single base substitution C T intron_variant MELA-AU 4 189064549 189064549 single base substitution C T upstream_gene_variant MELA-AU 4 189064752 189064752 single base substitution G A intron_variant MELA-AU 4 189064752 189064752 single base substitution G A upstream_gene_variant MELA-AU 4 189064762 189064762 single base substitution A T intron_variant MELA-AU 4 189064762 189064762 single base substitution A T upstream_gene_variant MELA-AU 4 189064806 189064806 single base substitution T C exon_variant MELA-AU 4 189064806 189064806 single base substitution T C intron_variant MELA-AU 4 189064806 189064806 single base substitution T C upstream_gene_variant MELA-AU 4 189064885 189064885 single base substitution C T exon_variant MELA-AU 4 189064885 189064885 single base substitution C T intron_variant MELA-AU 4 189064937 189064937 single base substitution C T exon_variant MELA-AU 4 189064937 189064937 single base substitution C T intron_variant MELA-AU 4 189065010 189065010 single base substitution G A exon_variant MELA-AU 4 189065010 189065010 single base substitution G A missense_variant E252K 754G>A MELA-AU 4 189065014 189065014 single base substitution G A missense_variant R253K 758G>A MELA-AU 4 189065014 189065014 single base substitution G A splice_region_variant MELA-AU 4 189065221 189065221 single base substitution G A exon_variant MELA-AU 4 189065221 189065221 single base substitution G A missense_variant A264T 790G>A MELA-AU 4 189065276 189065276 single base substitution G A exon_variant MELA-AU 4 189065276 189065276 single base substitution G A missense_variant R282K 845G>A MELA-AU 4 189065283 189065283 single base substitution C T exon_variant MELA-AU 4 189065283 189065283 single base substitution C T synonymous_variant F284F 852C>T MELA-AU 4 189065323 189065323 single base substitution G A intron_variant MELA-AU 4 189065393 189065394 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 189065426 189065426 single base substitution C T intron_variant MELA-AU 4 189065804 189065804 single base substitution C T intron_variant MELA-AU 4 189065888 189065888 single base substitution C T intron_variant MELA-AU 4 189065897 189065897 single base substitution G A intron_variant MELA-AU 4 189066013 189066013 single base substitution C T intron_variant MELA-AU 4 189066117 189066117 single base substitution G A intron_variant MELA-AU 4 189066218 189066218 single base substitution C T intron_variant MELA-AU 4 189066222 189066222 single base substitution G A intron_variant MELA-AU 4 189066339 189066339 single base substitution C T intron_variant MELA-AU 4 189066350 189066350 single base substitution G T intron_variant MELA-AU 4 189066390 189066410 deletion of <=200bp GAGACCAGCCTGGCCAACATG - intron_variant MELA-AU 4 189066515 189066515 single base substitution G A intron_variant MELA-AU 4 189066533 189066533 single base substitution T C intron_variant MELA-AU 4 189066575 189066575 single base substitution G A intron_variant MELA-AU 4 189066579 189066579 single base substitution G A intron_variant MELA-AU 4 189066687 189066687 single base substitution G A intron_variant MELA-AU 4 189066924 189066924 single base substitution C T intron_variant MELA-AU 4 189066943 189066943 single base substitution C T intron_variant MELA-AU 4 189067168 189067168 single base substitution C T intron_variant MELA-AU 4 189067297 189067297 single base substitution C T intron_variant MELA-AU 4 189067385 189067385 single base substitution G A intron_variant MELA-AU 4 189067425 189067425 single base substitution C T intron_variant MELA-AU 4 189067613 189067613 single base substitution G A intron_variant MELA-AU 4 189067699 189067699 single base substitution G A intron_variant MELA-AU 4 189067778 189067778 single base substitution G T intron_variant MELA-AU 4 189067820 189067820 single base substitution C T intron_variant MELA-AU 4 189067843 189067843 single base substitution G A intron_variant MELA-AU 4 189067959 189067959 single base substitution C T intron_variant MELA-AU 4 189068016 189068016 single base substitution C T exon_variant MELA-AU 4 189068016 189068016 single base substitution C T synonymous_variant L299L 897C>T MELA-AU 4 189068083 189068083 single base substitution G A exon_variant MELA-AU 4 189068083 189068083 single base substitution G A missense_variant E322K 964G>A MELA-AU 4 189068179 189068179 single base substitution G A exon_variant MELA-AU 4 189068179 189068179 single base substitution G A missense_variant E354K 1060G>A MELA-AU 4 189068181 189068181 single base substitution A T exon_variant MELA-AU 4 189068181 189068181 single base substitution A T missense_variant E354D 1062A>T MELA-AU 4 189068217 189068217 single base substitution G A exon_variant MELA-AU 4 189068217 189068217 single base substitution G A synonymous_variant G366G 1098G>A MELA-AU 4 189068223 189068223 single base substitution C T exon_variant MELA-AU 4 189068223 189068223 single base substitution C T synonymous_variant L368L 1104C>T MELA-AU 4 189068234 189068234 single base substitution C A exon_variant MELA-AU 4 189068234 189068234 single base substitution C A missense_variant P372H 1115C>A MELA-AU 4 189068269 189068269 single base substitution G A exon_variant MELA-AU 4 189068269 189068269 single base substitution G A missense_variant G384R 1150G>A MELA-AU 4 189068416 189068416 single base substitution C T exon_variant MELA-AU 4 189068416 189068416 single base substitution C T missense_variant P433S 1297C>T MELA-AU 4 189068454 189068454 single base substitution T A exon_variant MELA-AU 4 189068454 189068454 single base substitution T A missense_variant F445L 1335T>A MELA-AU 4 189068456 189068456 single base substitution C T exon_variant MELA-AU 4 189068456 189068456 single base substitution C T missense_variant S446F 1337C>T MELA-AU 4 189068457 189068457 single base substitution C T exon_variant MELA-AU 4 189068457 189068457 single base substitution C T synonymous_variant S446S 1338C>T MELA-AU 4 189068467 189068467 single base substitution C T downstream_gene_variant MELA-AU 4 189068467 189068467 single base substitution C T exon_variant MELA-AU 4 189068467 189068467 single base substitution C T missense_variant P450S 1348C>T MELA-AU 4 189068478 189068478 single base substitution G A downstream_gene_variant MELA-AU 4 189068478 189068478 single base substitution G A exon_variant MELA-AU 4 189068478 189068478 single base substitution G A synonymous_variant G453G 1359G>A MELA-AU 4 189068588 189068588 single base substitution G A 3_prime_UTR_variant MELA-AU 4 189068588 189068588 single base substitution G A downstream_gene_variant MELA-AU 4 189068588 189068588 single base substitution G A exon_variant MELA-AU 4 189068715 189068715 single base substitution C T 3_prime_UTR_variant MELA-AU 4 189068715 189068715 single base substitution C T downstream_gene_variant MELA-AU 4 189068715 189068715 single base substitution C T exon_variant MELA-AU 4 189068909 189068909 single base substitution G A downstream_gene_variant MELA-AU 4 189068970 189068970 single base substitution G A downstream_gene_variant MELA-AU 4 189069020 189069020 single base substitution C T downstream_gene_variant MELA-AU 4 189069038 189069038 single base substitution G A downstream_gene_variant MELA-AU 4 189069046 189069046 single base substitution C T downstream_gene_variant MELA-AU 4 189069130 189069130 single base substitution C T downstream_gene_variant MELA-AU 4 189069135 189069135 single base substitution C T downstream_gene_variant MELA-AU 4 189069164 189069164 single base substitution G A downstream_gene_variant MELA-AU 4 189069440 189069440 single base substitution G A downstream_gene_variant MELA-AU 4 189069466 189069466 single base substitution G A downstream_gene_variant MELA-AU 4 189069597 189069597 single base substitution G A downstream_gene_variant MELA-AU 4 189069642 189069642 single base substitution C T downstream_gene_variant MELA-AU 4 189069676 189069676 single base substitution G A downstream_gene_variant MELA-AU 4 189069837 189069837 single base substitution A G downstream_gene_variant MELA-AU 4 189069968 189069968 single base substitution C T downstream_gene_variant MELA-AU 4 189070330 189070330 single base substitution C T downstream_gene_variant MELA-AU 4 189070359 189070359 single base substitution C T downstream_gene_variant MELA-AU 4 189070441 189070441 single base substitution C T downstream_gene_variant MELA-AU 4 189070504 189070504 single base substitution G A downstream_gene_variant MELA-AU 4 189070745 189070745 single base substitution C T downstream_gene_variant MELA-AU 4 189070829 189070829 single base substitution C T downstream_gene_variant MELA-AU 4 189070887 189070887 single base substitution G A downstream_gene_variant MELA-AU 4 189070921 189070921 single base substitution G A downstream_gene_variant MELA-AU 4 189070945 189070945 single base substitution C T downstream_gene_variant MELA-AU 4 189071021 189071021 single base substitution A T downstream_gene_variant MELA-AU 4 189071060 189071060 single base substitution G A downstream_gene_variant MELA-AU 4 189071343 189071343 single base substitution G A downstream_gene_variant MELA-AU 4 189071418 189071418 single base substitution C T downstream_gene_variant MELA-AU 4 189071663 189071663 single base substitution C T downstream_gene_variant MELA-AU 4 189071801 189071801 single base substitution C T downstream_gene_variant MELA-AU 4 189071813 189071813 single base substitution C T downstream_gene_variant MELA-AU 4 189071853 189071853 single base substitution C T downstream_gene_variant MELA-AU 4 189071878 189071878 single base substitution C T downstream_gene_variant MELA-AU 4 189071931 189071931 single base substitution G A downstream_gene_variant MELA-AU 4 189072143 189072143 single base substitution G A downstream_gene_variant ORCA-IN 4 189059077 189059078 deletion of <=200bp TC - upstream_gene_variant ORCA-IN 4 189063367 189063367 single base substitution T C intron_variant ORCA-IN 4 189063367 189063367 single base substitution T C upstream_gene_variant OV-AU 4 189055988 189055988 single base substitution A G upstream_gene_variant OV-AU 4 189057413 189057413 single base substitution C T upstream_gene_variant OV-AU 4 189058582 189058582 single base substitution A C upstream_gene_variant OV-AU 4 189063554 189063554 single base substitution T A missense_variant L218Q 653T>A OV-AU 4 189063554 189063554 single base substitution T A upstream_gene_variant OV-AU 4 189064328 189064328 single base substitution G A intron_variant OV-AU 4 189064328 189064328 single base substitution G A upstream_gene_variant OV-AU 4 189064546 189064546 single base substitution C A intron_variant OV-AU 4 189064546 189064546 single base substitution C A upstream_gene_variant OV-AU 4 189065286 189065286 single base substitution C T splice_region_variant OV-AU 4 189065315 189065315 single base substitution C T intron_variant OV-US 4 189068452 189068452 single base substitution T A exon_variant OV-US 4 189068452 189068452 single base substitution T A missense_variant F445I 1333T>A PACA-AU 4 189056034 189056034 single base substitution C G upstream_gene_variant PACA-AU 4 189056190 189056190 single base substitution A G upstream_gene_variant PACA-AU 4 189057306 189057306 single base substitution G T upstream_gene_variant PACA-AU 4 189058859 189058859 single base substitution G A upstream_gene_variant PACA-AU 4 189059441 189059441 single base substitution G A upstream_gene_variant PACA-AU 4 189061051 189061051 single base substitution C T synonymous_variant S113S 339C>T PACA-AU 4 189061051 189061051 single base substitution C T upstream_gene_variant PACA-AU 4 189062457 189062457 single base substitution G A intron_variant PACA-AU 4 189062457 189062457 single base substitution G A upstream_gene_variant PACA-AU 4 189064630 189064630 single base substitution C G intron_variant PACA-AU 4 189064630 189064630 single base substitution C G upstream_gene_variant PACA-AU 4 189064846 189064846 single base substitution C A exon_variant PACA-AU 4 189064846 189064846 single base substitution C A intron_variant PACA-AU 4 189065124 189065124 single base substitution G A intron_variant PACA-AU 4 189065256 189065256 single base substitution G A exon_variant PACA-AU 4 189065256 189065256 single base substitution G A synonymous_variant T275T 825G>A PACA-AU 4 189066364 189066364 single base substitution G T intron_variant PACA-AU 4 189066489 189066489 single base substitution G A intron_variant PACA-AU 4 189067007 189067007 single base substitution G T intron_variant PACA-AU 4 189067036 189067036 single base substitution C T intron_variant PACA-AU 4 189067459 189067459 single base substitution G T intron_variant PACA-AU 4 189068390 189068390 single base substitution C T exon_variant PACA-AU 4 189068390 189068390 single base substitution C T missense_variant T424M 1271C>T PACA-AU 4 189069973 189069973 single base substitution C G downstream_gene_variant PACA-AU 4 189071469 189071469 single base substitution G A downstream_gene_variant PACA-AU 4 189071788 189071788 single base substitution C T downstream_gene_variant PACA-CA 4 189057087 189057087 single base substitution G A upstream_gene_variant PACA-CA 4 189058953 189058953 single base substitution G A upstream_gene_variant PACA-CA 4 189059657 189059657 single base substitution C T upstream_gene_variant PACA-CA 4 189059721 189059721 single base substitution G A upstream_gene_variant PACA-CA 4 189060799 189060799 single base substitution C T synonymous_variant T29T 87C>T PACA-CA 4 189060799 189060799 single base substitution C T upstream_gene_variant PACA-CA 4 189061782 189061782 single base substitution G T splice_region_variant PACA-CA 4 189061782 189061782 single base substitution G T upstream_gene_variant PACA-CA 4 189062081 189062081 single base substitution C T intron_variant PACA-CA 4 189062081 189062081 single base substitution C T upstream_gene_variant PACA-CA 4 189062851 189062851 single base substitution T A intron_variant PACA-CA 4 189062851 189062851 single base substitution T A upstream_gene_variant PACA-CA 4 189064040 189064040 single base substitution T A intron_variant PACA-CA 4 189064040 189064040 single base substitution T A upstream_gene_variant PACA-CA 4 189064367 189064367 single base substitution G A intron_variant PACA-CA 4 189064367 189064367 single base substitution G A upstream_gene_variant PACA-CA 4 189065238 189065238 single base substitution G C exon_variant PACA-CA 4 189065238 189065238 single base substitution G C synonymous_variant L269L 807G>C PACA-CA 4 189065768 189065768 single base substitution G A intron_variant PACA-CA 4 189067384 189067384 single base substitution G A intron_variant PACA-CA 4 189067414 189067414 single base substitution G A intron_variant PACA-CA 4 189067934 189067934 single base substitution C G intron_variant PACA-CA 4 189068390 189068390 single base substitution C T exon_variant PACA-CA 4 189068390 189068390 single base substitution C T missense_variant T424M 1271C>T PACA-CA 4 189070228 189070228 single base substitution C T downstream_gene_variant PACA-CA 4 189070589 189070589 single base substitution G T downstream_gene_variant PACA-CA 4 189070624 189070624 single base substitution A T downstream_gene_variant PACA-CA 4 189071237 189071237 single base substitution C T downstream_gene_variant PACA-CA 4 189071563 189071563 single base substitution G A downstream_gene_variant PACA-CA 4 189071574 189071574 single base substitution C A downstream_gene_variant PACA-CA 4 189071629 189071629 single base substitution G T downstream_gene_variant PACA-CA 4 189071679 189071679 single base substitution T G downstream_gene_variant PACA-CA 4 189071880 189071880 insertion of <=200bp - T downstream_gene_variant PAEN-IT 4 189070298 189070298 single base substitution C A downstream_gene_variant PBCA-DE 4 189065092 189065092 single base substitution G T intron_variant PBCA-DE 4 189072008 189072008 single base substitution C T downstream_gene_variant PBCA-DE 4 189072676 189072676 single base substitution T G downstream_gene_variant PBCA-DE 4 189072767 189072767 single base substitution A T downstream_gene_variant PRAD-CA 4 189056912 189056912 single base substitution G A upstream_gene_variant PRAD-CA 4 189058662 189058662 single base substitution G A upstream_gene_variant PRAD-CA 4 189065531 189065531 single base substitution C T intron_variant PRAD-CA 4 189067125 189067125 single base substitution T C intron_variant PRAD-UK 4 189060126 189060126 single base substitution C A upstream_gene_variant PRAD-UK 4 189065873 189065873 single base substitution G A intron_variant PRAD-UK 4 189066488 189066488 single base substitution C T intron_variant PRAD-UK 4 189067985 189067985 single base substitution C T exon_variant PRAD-UK 4 189067985 189067985 single base substitution C T missense_variant T289M 866C>T PRAD-UK 4 189068872 189068872 single base substitution G A downstream_gene_variant PRAD-UK 4 189068872 189068872 single base substitution G A exon_variant PRAD-US 4 189060921 189060921 single base substitution G A missense_variant R70H 209G>A PRAD-US 4 189060921 189060921 single base substitution G A upstream_gene_variant PRAD-US 4 189061023 189061023 single base substitution C T missense_variant A104V 311C>T PRAD-US 4 189061023 189061023 single base substitution C T upstream_gene_variant READ-US 4 189061017 189061017 single base substitution C A missense_variant A102D 305C>A READ-US 4 189061017 189061017 single base substitution C A upstream_gene_variant READ-US 4 189063625 189063625 single base substitution G A missense_variant E242K 724G>A READ-US 4 189063625 189063625 single base substitution G A upstream_gene_variant RECA-EU 4 189068549 189068549 single base substitution A T 3_prime_UTR_variant RECA-EU 4 189068549 189068549 single base substitution A T downstream_gene_variant RECA-EU 4 189068549 189068549 single base substitution A T exon_variant RECA-EU 4 189068764 189068764 single base substitution C A 3_prime_UTR_variant RECA-EU 4 189068764 189068764 single base substitution C A downstream_gene_variant RECA-EU 4 189068764 189068764 single base substitution C A exon_variant RECA-EU 4 189069128 189069128 single base substitution G A downstream_gene_variant SKCA-BR 4 189055861 189055861 single base substitution G A upstream_gene_variant SKCA-BR 4 189055952 189055952 single base substitution A T upstream_gene_variant SKCA-BR 4 189056067 189056067 single base substitution A C upstream_gene_variant SKCA-BR 4 189056234 189056234 single base substitution T C upstream_gene_variant SKCA-BR 4 189056457 189056457 single base substitution G A upstream_gene_variant SKCA-BR 4 189057245 189057245 single base substitution T A upstream_gene_variant SKCA-BR 4 189057420 189057420 single base substitution C T upstream_gene_variant SKCA-BR 4 189057421 189057421 single base substitution C T upstream_gene_variant SKCA-BR 4 189057612 189057612 single base substitution C T upstream_gene_variant SKCA-BR 4 189059070 189059070 insertion of <=200bp - CTTTTT upstream_gene_variant SKCA-BR 4 189059172 189059172 single base substitution C T upstream_gene_variant SKCA-BR 4 189059773 189059773 single base substitution G A upstream_gene_variant SKCA-BR 4 189060238 189060238 single base substitution G A upstream_gene_variant SKCA-BR 4 189061855 189061855 single base substitution G A intron_variant SKCA-BR 4 189061855 189061855 single base substitution G A upstream_gene_variant SKCA-BR 4 189063472 189063472 single base substitution G A missense_variant E191K 571G>A SKCA-BR 4 189063472 189063472 single base substitution G A upstream_gene_variant SKCA-BR 4 189063846 189063846 single base substitution T C intron_variant SKCA-BR 4 189063846 189063846 single base substitution T C upstream_gene_variant SKCA-BR 4 189063884 189063884 single base substitution A C intron_variant SKCA-BR 4 189063884 189063884 single base substitution A C upstream_gene_variant SKCA-BR 4 189064736 189064736 single base substitution C T intron_variant SKCA-BR 4 189064736 189064736 single base substitution C T upstream_gene_variant SKCA-BR 4 189064765 189064765 single base substitution G A intron_variant SKCA-BR 4 189064765 189064765 single base substitution G A upstream_gene_variant SKCA-BR 4 189064986 189064986 single base substitution C T exon_variant SKCA-BR 4 189064986 189064986 single base substitution C T splice_region_variant SKCA-BR 4 189065368 189065368 single base substitution G A intron_variant SKCA-BR 4 189065574 189065574 single base substitution G T intron_variant SKCA-BR 4 189065924 189065924 single base substitution C T intron_variant SKCA-BR 4 189066095 189066095 single base substitution G A intron_variant SKCA-BR 4 189066612 189066631 deletion of <=200bp AAAAAAAAAAAAAAAAAAAG - intron_variant SKCA-BR 4 189067385 189067385 single base substitution G A intron_variant SKCA-BR 4 189067673 189067673 single base substitution C T intron_variant SKCA-BR 4 189067754 189067754 single base substitution G A intron_variant SKCA-BR 4 189068380 189068380 single base substitution T C exon_variant SKCA-BR 4 189068380 189068380 single base substitution T C missense_variant Y421H 1261T>C SKCA-BR 4 189068961 189068961 single base substitution C T downstream_gene_variant SKCA-BR 4 189069057 189069057 single base substitution C T downstream_gene_variant SKCA-BR 4 189069682 189069682 single base substitution G A downstream_gene_variant SKCA-BR 4 189069948 189069948 single base substitution G A downstream_gene_variant SKCA-BR 4 189070361 189070361 single base substitution C T downstream_gene_variant SKCA-BR 4 189070548 189070548 single base substitution G A downstream_gene_variant SKCA-BR 4 189070658 189070658 single base substitution A T downstream_gene_variant SKCA-BR 4 189071044 189071044 single base substitution A G downstream_gene_variant SKCA-BR 4 189071159 189071159 single base substitution C T downstream_gene_variant SKCA-BR 4 189071185 189071185 single base substitution C T downstream_gene_variant SKCA-BR 4 189071457 189071457 single base substitution A T downstream_gene_variant SKCA-BR 4 189071866 189071866 single base substitution C T downstream_gene_variant SKCM-US 4 189060749 189060749 single base substitution G A missense_variant E13K 37G>A SKCM-US 4 189060749 189060749 single base substitution G A upstream_gene_variant SKCM-US 4 189060821 189060821 single base substitution C T synonymous_variant L37L 109C>T SKCM-US 4 189060821 189060821 single base substitution C T upstream_gene_variant SKCM-US 4 189060833 189060833 single base substitution C T missense_variant L41F 121C>T SKCM-US 4 189060833 189060833 single base substitution C T upstream_gene_variant SKCM-US 4 189060889 189060889 single base substitution C T synonymous_variant T59T 177C>T SKCM-US 4 189060889 189060889 single base substitution C T upstream_gene_variant SKCM-US 4 189060954 189060954 single base substitution T A missense_variant L81H 242T>A SKCM-US 4 189060954 189060954 single base substitution T A upstream_gene_variant SKCM-US 4 189060973 189060973 single base substitution G A synonymous_variant Q87Q 261G>A SKCM-US 4 189060973 189060973 single base substitution G A upstream_gene_variant SKCM-US 4 189060977 189060977 single base substitution G A missense_variant E89K 265G>A SKCM-US 4 189060977 189060977 single base substitution G A upstream_gene_variant SKCM-US 4 189061057 189061057 single base substitution C T synonymous_variant F115F 345C>T SKCM-US 4 189061057 189061057 single base substitution C T upstream_gene_variant SKCM-US 4 189061682 189061682 single base substitution G A missense_variant E137K 409G>A SKCM-US 4 189061682 189061682 single base substitution G A upstream_gene_variant SKCM-US 4 189061765 189061765 single base substitution G A synonymous_variant V164V 492G>A SKCM-US 4 189061765 189061765 single base substitution G A upstream_gene_variant SKCM-US 4 189063465 189063465 single base substitution C T synonymous_variant F188F 564C>T SKCM-US 4 189063465 189063465 single base substitution C T upstream_gene_variant SKCM-US 4 189063519 189063519 single base substitution G A synonymous_variant E206E 618G>A SKCM-US 4 189063519 189063519 single base substitution G A upstream_gene_variant SKCM-US 4 189063546 189063546 single base substitution G A synonymous_variant E215E 645G>A SKCM-US 4 189063546 189063546 single base substitution G A upstream_gene_variant SKCM-US 4 189064991 189064991 single base substitution G A exon_variant SKCM-US 4 189064991 189064991 single base substitution G A splice_acceptor_variant SKCM-US 4 189065004 189065004 single base substitution G A exon_variant SKCM-US 4 189065004 189065004 single base substitution G A missense_variant A250T 748G>A SKCM-US 4 189065010 189065010 single base substitution G A exon_variant SKCM-US 4 189065010 189065010 single base substitution G A missense_variant E252K 754G>A SKCM-US 4 189065014 189065014 single base substitution G A missense_variant R253K 758G>A SKCM-US 4 189065014 189065014 single base substitution G A splice_region_variant SKCM-US 4 189065209 189065209 single base substitution C T exon_variant SKCM-US 4 189065209 189065209 single base substitution C T stop_gained Q260* 778C>T SKCM-US 4 189065256 189065256 single base substitution G A exon_variant SKCM-US 4 189065256 189065256 single base substitution G A synonymous_variant T275T 825G>A SKCM-US 4 189065276 189065276 single base substitution G A exon_variant SKCM-US 4 189065276 189065276 single base substitution G A missense_variant R282K 845G>A SKCM-US 4 189068016 189068016 single base substitution C T exon_variant SKCM-US 4 189068016 189068016 single base substitution C T synonymous_variant L299L 897C>T SKCM-US 4 189068185 189068185 single base substitution G A exon_variant SKCM-US 4 189068185 189068185 single base substitution G A missense_variant G356S 1066G>A SKCM-US 4 189068190 189068190 single base substitution C T exon_variant SKCM-US 4 189068190 189068190 single base substitution C T synonymous_variant I357I 1071C>T SKCM-US 4 189068196 189068196 single base substitution G A exon_variant SKCM-US 4 189068196 189068196 single base substitution G A synonymous_variant K359K 1077G>A SKCM-US 4 189068214 189068214 single base substitution G A exon_variant SKCM-US 4 189068214 189068214 single base substitution G A synonymous_variant K365K 1095G>A SKCM-US 4 189068217 189068217 single base substitution G A exon_variant SKCM-US 4 189068217 189068217 single base substitution G A synonymous_variant G366G 1098G>A SKCM-US 4 189068223 189068223 single base substitution C T exon_variant SKCM-US 4 189068223 189068223 single base substitution C T synonymous_variant L368L 1104C>T SKCM-US 4 189068239 189068239 single base substitution G A exon_variant SKCM-US 4 189068239 189068239 single base substitution G A missense_variant D374N 1120G>A SKCM-US 4 189068247 189068247 single base substitution C T exon_variant SKCM-US 4 189068247 189068247 single base substitution C T synonymous_variant F376F 1128C>T SKCM-US 4 189068272 189068272 single base substitution G A exon_variant SKCM-US 4 189068272 189068272 single base substitution G A missense_variant D385N 1153G>A SKCM-US 4 189068456 189068456 single base substitution C T exon_variant SKCM-US 4 189068456 189068456 single base substitution C T missense_variant S446F 1337C>T SKCM-US 4 189068457 189068457 single base substitution C T exon_variant SKCM-US 4 189068457 189068457 single base substitution C T synonymous_variant S446S 1338C>T SKCM-US 4 189068478 189068478 single base substitution G T downstream_gene_variant SKCM-US 4 189068478 189068478 single base substitution G T exon_variant SKCM-US 4 189068478 189068478 single base substitution G T synonymous_variant G453G 1359G>T SKCM-US 4 189068515 189068515 single base substitution A T downstream_gene_variant SKCM-US 4 189068515 189068515 single base substitution A T exon_variant SKCM-US 4 189068515 189068515 single base substitution A T missense_variant S466C 1396A>T STAD-US 4 189060625 189060625 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 189060625 189060625 single base substitution G A upstream_gene_variant STAD-US 4 189060646 189060646 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 189060646 189060646 single base substitution C T upstream_gene_variant STAD-US 4 189060814 189060814 single base substitution C T synonymous_variant S34S 102C>T STAD-US 4 189060814 189060814 single base substitution C T upstream_gene_variant STAD-US 4 189061023 189061023 single base substitution C T missense_variant A104V 311C>T STAD-US 4 189061023 189061023 single base substitution C T upstream_gene_variant STAD-US 4 189061099 189061099 single base substitution C T synonymous_variant S129S 387C>T STAD-US 4 189061099 189061099 single base substitution C T upstream_gene_variant STAD-US 4 189061103 189061103 single base substitution G A missense_variant A131T 391G>A STAD-US 4 189061103 189061103 single base substitution G A upstream_gene_variant STAD-US 4 189063413 189063413 single base substitution C T missense_variant T171I 512C>T STAD-US 4 189063413 189063413 single base substitution C T upstream_gene_variant STAD-US 4 189068025 189068025 single base substitution G A exon_variant STAD-US 4 189068025 189068025 single base substitution G A synonymous_variant S302S 906G>A STAD-US 4 189068074 189068074 single base substitution G A exon_variant STAD-US 4 189068074 189068074 single base substitution G A missense_variant D319N 955G>A STAD-US 4 189068199 189068199 single base substitution C G exon_variant STAD-US 4 189068199 189068199 single base substitution C G missense_variant D360E 1080C>G STAD-US 4 189068336 189068336 single base substitution A C exon_variant STAD-US 4 189068336 189068336 single base substitution A C missense_variant K406T 1217A>C STAD-US 4 189068387 189068387 single base substitution G A exon_variant STAD-US 4 189068387 189068387 single base substitution G A missense_variant G423E 1268G>A THCA-SA 4 189061036 189061036 single base substitution C T synonymous_variant D108D 324C>T THCA-SA 4 189061036 189061036 single base substitution C T upstream_gene_variant THCA-US 4 189060832 189060832 single base substitution C T synonymous_variant L40L 120C>T THCA-US 4 189060832 189060832 single base substitution C T upstream_gene_variant THCA-US 4 189068316 189068316 single base substitution C T exon_variant THCA-US 4 189068316 189068316 single base substitution C T synonymous_variant H399H 1197C>T THCA-US 4 189068456 189068456 single base substitution C A exon_variant THCA-US 4 189068456 189068456 single base substitution C A missense_variant S446Y 1337C>A UCEC-US 4 189060800 189060800 single base substitution G A missense_variant E30K 88G>A UCEC-US 4 189060800 189060800 single base substitution G A upstream_gene_variant UCEC-US 4 189060900 189060900 single base substitution C T missense_variant P63L 188C>T UCEC-US 4 189060900 189060900 single base substitution C T upstream_gene_variant UCEC-US 4 189060949 189060949 single base substitution G T missense_variant R79S 237G>T UCEC-US 4 189060949 189060949 single base substitution G T upstream_gene_variant UCEC-US 4 189060958 189060958 single base substitution G A synonymous_variant R82R 246G>A UCEC-US 4 189060958 189060958 single base substitution G A upstream_gene_variant UCEC-US 4 189060959 189060959 single base substitution T A missense_variant S83T 247T>A UCEC-US 4 189060959 189060959 single base substitution T A upstream_gene_variant UCEC-US 4 189061727 189061727 single base substitution G T stop_gained E152* 454G>T UCEC-US 4 189061727 189061727 single base substitution G T upstream_gene_variant UCEC-US 4 189063480 189063480 single base substitution G T missense_variant E193D 579G>T UCEC-US 4 189063480 189063480 single base substitution G T upstream_gene_variant UCEC-US 4 189063561 189063561 single base substitution G T missense_variant Q220H 660G>T UCEC-US 4 189063561 189063561 single base substitution G T upstream_gene_variant UCEC-US 4 189063617 189063617 single base substitution C T missense_variant S239L 716C>T UCEC-US 4 189063617 189063617 single base substitution C T upstream_gene_variant UCEC-US 4 189063618 189063618 single base substitution G A synonymous_variant S239S 717G>A UCEC-US 4 189063618 189063618 single base substitution G A upstream_gene_variant UCEC-US 4 189065193 189065193 single base substitution C T exon_variant UCEC-US 4 189065193 189065193 single base substitution C T synonymous_variant S254S 762C>T UCEC-US 4 189065197 189065197 single base substitution C G exon_variant UCEC-US 4 189065197 189065197 single base substitution C G missense_variant P256A 766C>G UCEC-US 4 189067986 189067986 single base substitution G A exon_variant UCEC-US 4 189067986 189067986 single base substitution G A synonymous_variant T289T 867G>A UCEC-US 4 189068024 189068024 single base substitution C T exon_variant UCEC-US 4 189068024 189068024 single base substitution C T missense_variant S302L 905C>T UCEC-US 4 189068028 189068028 single base substitution G A exon_variant UCEC-US 4 189068028 189068028 single base substitution G A synonymous_variant E303E 909G>A UCEC-US 4 189068092 189068092 single base substitution G C exon_variant UCEC-US 4 189068092 189068092 single base substitution G C missense_variant D325H 973G>C UCEC-US 4 189068180 189068180 single base substitution A G exon_variant UCEC-US 4 189068180 189068180 single base substitution A G missense_variant E354G 1061A>G UCEC-US 4 189068242 189068242 single base substitution C A exon_variant UCEC-US 4 189068242 189068242 single base substitution C A missense_variant L375M 1123C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FW-A3R5-06 COSM3917606 c.1128C>T p.F376F Substitution - coding silent 4:188147093-188147093 + TCGA-AP-A051-01 COSM1054401 c.660G>T p.Q220H Substitution - Missense 4:188142407-188142407 + AOCS-084-1-X COSM4135543 c.855C>T p.S285S Substitution - coding silent 4:188144132-188144132 + PT19_2 COSM733771 c.371G>A p.R124K Substitution - Missense 4:188139929-188139929 + TCGA-06-0686-01 COSM2151591 c.824C>T p.T275M Substitution - Missense 4:188144101-188144101 + LUAD-NYU201 COSM371435 c.895C>A p.L299I Substitution - Missense 4:188146860-188146860 + TCGA-12-5295-01 COSM3409216 c.576G>C p.E192D Substitution - Missense 4:188142323-188142323 + S00838 COSM5661639 c.1104C>A p.L368L Substitution - coding silent 4:188147069-188147069 + ACINAR29 COSM1733722 c.779A>T p.Q260L Substitution - Missense 4:188144056-188144056 + CR108 COSM4994743 c.20T>A p.M7K Substitution - Missense 4:188139578-188139578 + Au3 COSM3602797 c.1338C>T p.S446S Substitution - coding silent 4:188147303-188147303 + RK164_C01 COSM3132063 c.878C>G p.A293G Substitution - Missense 4:188146843-188146843 + 260211 COSM3725702 c.397G>T p.E133* Substitution - Nonsense 4:188139955-188139955 + pfg008T COSM1642453 c.1266C>T p.N422N Substitution - coding silent 4:188147231-188147231 + TCGA-A5-A0GU-01 COSM1054403 c.717G>A p.S239S Substitution - coding silent 4:188142464-188142464 + YUQUEST COSM234319 c.170G>A p.W57* Substitution - Nonsense 4:188139728-188139728 + TCGA-41-4097-01 COSM2155058 c.1298C>T p.P433L Substitution - Missense 4:188147263-188147263 + TCGA-FW-A3R5-06 COSM3917602 c.748G>A p.A250T Substitution - Missense 4:188143850-188143850 + TCGA-FW-A3R5-06 COSM3917605 c.1066G>A p.G356S Substitution - Missense 4:188147031-188147031 + TCGA-DD-A119-01 COSM4919984 c.973G>A p.D325N Substitution - Missense 4:188146938-188146938 + TCGA-CD-5798-01 COSM3674155 c.311C>T p.A104V Substitution - Missense 4:188139869-188139869 + TCGA-FW-A3R5-06 COSM3917603 c.758G>A p.R253K Substitution - Missense 4:188143860-188143860 + CSCC-30-T COSM4463562 c.1297C>T p.P433S Substitution - Missense 4:188147262-188147262 + TCGA-AA-3814-01 COSM293915 c.858G>A p.T286T Substitution - coding silent 4:188146823-188146823 + ESCC-248T COSM3940847 c.1176G>A p.S392S Substitution - coding silent 4:188147141-188147141 + 46M COSM5589207 c.968G>A p.R323K Substitution - Missense 4:188146933-188146933 + TCGA-DU-6405-01 COSM2157545 c.1402G>A p.V468I Substitution - Missense 4:188147367-188147367 + CSCC-47-T COSM4561138 c.871G>A p.D291N Substitution - Missense 4:188146836-188146836 + HCC2998 COSM3132055 c.677G>A p.S226N Substitution - Missense 4:188142424-188142424 + TCGA-D3-A2JF-06 COSM3602797 c.1338C>T p.S446S Substitution - coding silent 4:188147303-188147303 + S02360 COSM5696209 c.349G>T p.A117S Substitution - Missense 4:188139907-188139907 + TCGA-EE-A2GH-06 COSM3409217 c.897C>T p.L299L Substitution - coding silent 4:188146862-188146862 + BHY COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + AOCS-105-1-9 COSM4135542 c.653T>A p.L218Q Substitution - Missense 4:188142400-188142400 + TCGA-AP-A05H-01 COSM1054398 c.247T>A p.S83T Substitution - Missense 4:188139805-188139805 + S00841 COSM318179 c.1322T>A p.L441H Substitution - Missense 4:188147287-188147287 + CHC1704T COSM4804103 c.953C>A p.P318H Substitution - Missense 4:188146918-188146918 + PD4843a COSM165150 c.356G>A p.S119N Substitution - Missense 4:188139914-188139914 + ESO-555 COSM1268594 c.1401C>T p.H467H Substitution - coding silent 4:188147366-188147366 + TCGA-EE-A3JA-06 COSM3132077 c.1337C>T p.S446F Substitution - Missense 4:188147302-188147302 + PT35 COSM5912155 c.1114C>T p.P372S Substitution - Missense 4:188147079-188147079 + YUMER COSM1695325 c.1151G>A p.G384E Substitution - Missense 4:188147116-188147116 + CSCC-27-T COSM3409217 c.897C>T p.L299L Substitution - coding silent 4:188146862-188146862 + T3118 COSM4736274 c.1272G>A p.T424T Substitution - coding silent 4:188147237-188147237 + TCGA-18-3408-01 COSM733769 c.782G>T p.C261F Substitution - Missense 4:188144059-188144059 + TCGA-CE-A13K-01 COSM3373459 c.1197C>T p.H399H Substitution - coding silent 4:188147162-188147162 + CG-3567 COSM2157545 c.1402G>A p.V468I Substitution - Missense 4:188147367-188147367 + CSCC-17-T COSM3409217 c.897C>T p.L299L Substitution - coding silent 4:188146862-188146862 + TCGA-06-0173 COSM2150429 c.1170G>T p.W390C Substitution - Missense 4:188147135-188147135 + T3301 COSM4736275 c.1393A>C p.N465H Substitution - Missense 4:188147358-188147358 + TCGA-EE-A2MS-06 COSM3602798 c.1359G>T p.G453G Substitution - coding silent 4:188147324-188147324 + Pat_76_A COSM5866172 c.335G>A p.G112E Substitution - Missense 4:188139893-188139893 + SNUH_G76_S1 COSM4418408 c.387C>A p.S129R Substitution - Missense 4:188139945-188139945 + PDA_011 COSM4998468 c.346G>A p.V116I Substitution - Missense 4:188139904-188139904 + TCGA-37-5819-01 COSM733770 c.759G>T p.R253S Substitution - Missense 4:188144036-188144036 + CSCC-30-T COSM4463204 c.1280C>T p.S427F Substitution - Missense 4:188147245-188147245 + LUAD-F00018 COSM339169 c.1105C>T p.P369S Substitution - Missense 4:188147070-188147070 + LUAD-S01306 COSM343659 c.126G>T p.R42S Substitution - Missense 4:188139684-188139684 + 2492721 COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + 3101B7_032_T COSM5039113 c.991C>A p.L331M Substitution - Missense 4:188146956-188146956 + TCGA-HC-7080-01 COSM3674155 c.311C>T p.A104V Substitution - Missense 4:188139869-188139869 + ME048T COSM229713 c.473C>A p.T158N Substitution - Missense 4:188140592-188140592 + TCGA-FW-A3R5-06 COSM3917601 c.121C>T p.L41F Substitution - Missense 4:188139679-188139679 + LUAD-NYU669 COSM375804 c.786A>G p.P262P Substitution - coding silent 4:188144063-188144063 + TCGA-AP-A051-01 COSM1054409 c.909G>A p.E303E Substitution - coding silent 4:188146874-188146874 + UPCI:SCC090 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + HCC53 COSM1618696 c.891C>T p.A297A Substitution - coding silent 4:188146856-188146856 + TCGA-EL-A3GV-01 COSM3373460 c.1337C>A p.S446Y Substitution - Missense 4:188147302-188147302 + TCGA-AM-5821-01 COSM3760549 c.394G>A p.E132K Substitution - Missense 4:188139952-188139952 + 12586 COSM5617212 c.993G>C p.L331L Substitution - coding silent 4:188146958-188146958 + TCGA-12-0692-01 COSM3409215 c.255G>A p.V85V Substitution - coding silent 4:188139813-188139813 + ORL-48 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + HCC53T COSM1618696 c.891C>T p.A297A Substitution - coding silent 4:188146856-188146856 + TCGA-EE-A2GB-06 COSM3602786 c.345C>T p.F115F Substitution - coding silent 4:188139903-188139903 + CSCC-44-T COSM4569152 c.154T>A p.S52T Substitution - Missense 4:188139712-188139712 + MD-047 COSM303453 c.1376T>C p.L459P Substitution - Missense 4:188147341-188147341 + HCC67 COSM1618697 c.1051A>T p.T351S Substitution - Missense 4:188147016-188147016 + TCGA-BR-A44U-01 COSM4123976 c.512C>T p.T171I Substitution - Missense 4:188142259-188142259 + ME018T COSM225204 c.88G>A p.E30K Substitution - Missense 4:188139646-188139646 + TCGA-HC-7078-01 COSM1471722 c.209G>A p.R70H Substitution - Missense 4:188139767-188139767 + TCGA-ER-A19P-06 COSM3132077 c.1337C>T p.S446F Substitution - Missense 4:188147302-188147302 + TCGA-D9-A6EC-06 COSM4404466 c.845G>A p.R282K Substitution - Missense 4:188144122-188144122 + TCGA-EB-A1NK-01 COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + TCGA-FW-A3R5-06 COSM3917604 c.778C>T p.Q260* Substitution - Nonsense 4:188144055-188144055 + TCGA-CJ-6031-01 COSM481147 c.1282C>A p.L428I Substitution - Missense 4:188147247-188147247 + DLD1 COSM4625277 c.96G>A p.G32G Substitution - coding silent 4:188139654-188139654 + T3446 COSM3917605 c.1066G>A p.G356S Substitution - Missense 4:188147031-188147031 + TCGA-EE-A29M-06 COSM3602793 c.1095G>A p.K365K Substitution - coding silent 4:188147060-188147060 + LUAD-CHTN-MAD06-00668 COSM359974 c.160C>A p.P54T Substitution - Missense 4:188139718-188139718 + TCGA-26-1442-01 COSM3409217 c.897C>T p.L299L Substitution - coding silent 4:188146862-188146862 + TCGA-AA-A010-01 COSM285963 c.354G>T p.Q118H Substitution - Missense 4:188139912-188139912 + TCGA-AP-A051-01 COSM1054405 c.766C>G p.P256A Substitution - Missense 4:188144043-188144043 + TCGA-EI-6917-01 COSM3428418 c.305C>A p.A102D Substitution - Missense 4:188139863-188139863 + TCGA-CG-4436-01 COSM4123978 c.955G>A p.D319N Substitution - Missense 4:188146920-188146920 + TCGA-EE-A183-06 COSM3602783 c.242T>A p.L81H Substitution - Missense 4:188139800-188139800 + 226 COSM3730150 c.670A>C p.S224R Substitution - Missense 4:188142417-188142417 + CDGLIV0707A0251_T COSM5042641 c.160C>T p.P54S Substitution - Missense 4:188139718-188139718 + BK0091 COSM4188758 c.1171G>T p.V391F Substitution - Missense 4:188147136-188147136 + TCGA-AC-A3W5-01 COSM3825655 c.1113A>C p.P371P Substitution - coding silent 4:188147078-188147078 + MN-297 COSM1578769 c.319G>A p.D107N Substitution - Missense 4:188139877-188139877 + C086 COSM5540830 c.1349C>T p.P450L Substitution - Missense 4:188147314-188147314 + ASHPC_0017_Pa_P COSM3781148 c.87C>T p.T29T Substitution - coding silent 4:188139645-188139645 + TCGA-FR-A3YO-06 COSM3602787 c.492G>A p.V164V Substitution - coding silent 4:188140611-188140611 + TCGA-EI-6917-01 COSM264199 c.724G>A p.E242K Substitution - Missense 4:188142471-188142471 + TCGA-AA-A01Z-01 COSM300451 c.852C>T p.F284F Substitution - coding silent 4:188144129-188144129 + TCGA-BG-A0VT-01 COSM1054410 c.973G>C p.D325H Substitution - Missense 4:188146938-188146938 + TCGA-EE-A181-06 COSM3602781 c.109C>T p.L37L Substitution - coding silent 4:188139667-188139667 + TCGA-D9-A1JW-06 COSM3602788 c.564C>T p.F188F Substitution - coding silent 4:188142311-188142311 + TCGA-EE-A2MN-06 COSM3409217 c.897C>T p.L299L Substitution - coding silent 4:188146862-188146862 + TCGA-37-3789-01 COSM733765 c.897C>G p.L299L Substitution - coding silent 4:188146862-188146862 + WSU-HN6 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + C608 COSM4442985 c.935G>A p.G312E Substitution - Missense 4:188146900-188146900 + TCGA-DA-A1IC-06 COSM3602791 c.754G>A p.E252K Substitution - Missense 4:188143856-188143856 + TCGA-DB-A64X-01 COSM3974846 c.765G>A p.E255E Substitution - coding silent 4:188144042-188144042 + TCGA-D1-A160-01 COSM1054397 c.246G>A p.R82R Substitution - coding silent 4:188139804-188139804 + YUMER COSM1695322 c.37G>A p.E13K Substitution - Missense 4:188139595-188139595 + S02344 COSM5693704 c.179T>C p.L60S Substitution - Missense 4:188139737-188139737 + 587342 COSM1230427 c.599T>C p.L200P Substitution - Missense 4:188142346-188142346 + YUQUEST COSM3132077 c.1337C>T p.S446F Substitution - Missense 4:188147302-188147302 + WSU-HN12 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + TCGA-BR-8591-01 COSM4123974 c.387C>T p.S129S Substitution - coding silent 4:188139945-188139945 + TCGA-B5-A0JR-01 COSM1054396 c.237G>T p.R79S Substitution - Missense 4:188139795-188139795 + TCGA-BR-A4CS-01 COSM4123979 c.1080C>G p.D360E Substitution - Missense 4:188147045-188147045 + YUZINO COSM1695324 c.785C>T p.P262L Substitution - Missense 4:188144062-188144062 + sysucc-875T COSM3780263 c.1271C>T p.T424M Substitution - Missense 4:188147236-188147236 + ESO-732 COSM1268595 c.279C>G p.G93G Substitution - coding silent 4:188139837-188139837 + TCGA-AP-A0LT-01 COSM1054395 c.188C>T p.P63L Substitution - Missense 4:188139746-188139746 + ZZUFHECRKL-G072T COSM3780263 c.1271C>T p.T424M Substitution - Missense 4:188147236-188147236 + LUAD-5V8LT COSM402548 c.875C>A p.P292Q Substitution - Missense 4:188146840-188146840 + TCGA-ER-A19A-06 COSM3409217 c.897C>T p.L299L Substitution - coding silent 4:188146862-188146862 + TCGA-ER-A19S-06 COSM3602799 c.1396A>T p.S466C Substitution - Missense 4:188147361-188147361 + SJHGG034_D COSM4736274 c.1272G>A p.T424T Substitution - coding silent 4:188147237-188147237 + LUAD-CHTN-MAD06-00668 COSM359975 c.1115C>A p.P372H Substitution - Missense 4:188147080-188147080 + 8052859 COSM3780263 c.1271C>T p.T424M Substitution - Missense 4:188147236-188147236 + TCGA-D3-A3C8-06 COSM3602794 c.1104C>T p.L368L Substitution - coding silent 4:188147069-188147069 + 2250185 COSM5029395 c.1204G>C p.E402Q Substitution - Missense 4:188147169-188147169 + ASHPC_0029_Pa_P COSM3781149 c.807G>C p.L269L Substitution - coding silent 4:188144084-188144084 + 0052_CRUK_PC_0052_T1_DNA COSM1230428 c.866C>T p.T289M Substitution - Missense 4:188146831-188146831 + OV207 COSM252890 c.244C>T p.R82W Substitution - Missense 4:188139802-188139802 + T3024 COSM3132077 c.1337C>T p.S446F Substitution - Missense 4:188147302-188147302 + pfg092T COSM4764191 c.194T>G p.F65C Substitution - Missense 4:188139752-188139752 + SNUH_G10_S1 COSM3760549 c.394G>A p.E132K Substitution - Missense 4:188139952-188139952 + BD73T COSM5499510 c.440G>A p.R147H Substitution - Missense 4:188140559-188140559 + SJMB031 COSM255419 c.484G>T p.E162* Substitution - Nonsense 4:188140603-188140603 + MO_1124 COSM5557213 c.1149C>T p.I383I Substitution - coding silent 4:188147114-188147114 + TCGA-06-5859 COSM209202 c.983C>T p.A328V Substitution - Missense 4:188146948-188146948 + TCGA-06-0686 COSM2151591 c.824C>T p.T275M Substitution - Missense 4:188144101-188144101 + LUAD-YKER9 COSM352156 c.781T>A p.C261S Substitution - Missense 4:188144058-188144058 + TCGA-DA-A1IC-06 COSM3602792 c.1077G>A p.K359K Substitution - coding silent 4:188147042-188147042 + TCGA-D9-A6EA-06 COSM4398404 c.409G>A p.E137K Substitution - Missense 4:188140528-188140528 + B110 COSM1753681 c.453G>A p.K151K Substitution - coding silent 4:188140572-188140572 + TCGA-HU-A4GQ-01 COSM4123975 c.391G>A p.A131T Substitution - Missense 4:188139949-188139949 + TCGA-D5-6928-01 COSM1429089 c.362G>A p.G121D Substitution - Missense 4:188139920-188139920 + UM-SCC-11B COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + T2568 COSM4736273 c.1129T>G p.S377A Substitution - Missense 4:188147094-188147094 + WSU-HN13 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + HT115 COSM1540185 c.439C>T p.R147C Substitution - Missense 4:188140558-188140558 + ESO-1670 COSM1268593 c.127A>G p.S43G Substitution - Missense 4:188139685-188139685 + LUAD-74TBW COSM355229 c.319G>T p.D107Y Substitution - Missense 4:188139877-188139877 + 1N29-VS-1T29 COSM4973915 c.1057T>C p.W353R Substitution - Missense 4:188147022-188147022 + 010-0028-02TD COSM5416819 c.388G>A p.E130K Substitution - Missense 4:188139946-188139946 + TCGA-61-1907-01 COSM1328570 c.1312C>T p.Q438* Substitution - Nonsense 4:188147277-188147277 + TCGA-60-2726-01 COSM733768 c.816C>A p.C272* Substitution - Nonsense 4:188144093-188144093 + SWE-29 COSM1179401 c.504+1G>A p.? Unknown 4:188140624-188140624 + TCGA-EE-A29R-06 COSM3602796 c.1153G>A p.D385N Substitution - Missense 4:188147118-188147118 + 2492723 COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + P-Thy001 COSM2155058 c.1298C>T p.P433L Substitution - Missense 4:188147263-188147263 + TCGA-C5-A1BL-01 COSM3775748 c.433C>G p.L145V Substitution - Missense 4:188140552-188140552 + PTC-7C COSM4158955 c.324C>T p.D108D Substitution - coding silent 4:188139882-188139882 + T1772 COSM4736270 c.109C>A p.L37M Substitution - Missense 4:188139667-188139667 + TCGA-06-5859-01 COSM209202 c.983C>T p.A328V Substitution - Missense 4:188146948-188146948 + HCC67T COSM1618697 c.1051A>T p.T351S Substitution - Missense 4:188147016-188147016 + UM-SCC-2 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + 360_T COSM3946253 c.1005C>A p.I335I Substitution - coding silent 4:188146970-188146970 + CSCC-16-T COSM4562069 c.910G>A p.D304N Substitution - Missense 4:188146875-188146875 + YUKLAB COSM1695323 c.43A>T p.T15S Substitution - Missense 4:188139601-188139601 + TCGA-FW-A5DY-06 COSM3132077 c.1337C>T p.S446F Substitution - Missense 4:188147302-188147302 + TCGA-BJ-A28Z-01 COSM3373458 c.120C>T p.L40L Substitution - coding silent 4:188139678-188139678 + TCGA-D7-6518-01 COSM4123981 c.1268G>A p.G423E Substitution - Missense 4:188147233-188147233 + UD-SCC-2 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + WSU-HN8 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + HN_62506 COSM129912 c.855C>A p.S285R Substitution - Missense 4:188144132-188144132 + CHC1704T COSM4804103 c.953C>A p.P318H Substitution - Missense 4:188146918-188146918 + LUAD-LC15C COSM341952 c.403C>T p.H135Y Substitution - Missense 4:188139961-188139961 + Pa18C COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + T298 COSM4736271 c.444A>G p.V148V Substitution - coding silent 4:188140563-188140563 + NOKSI COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + SCC-9 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + TCGA-FJ-A3ZE-01 COSM3775749 c.1338C>A p.S446S Substitution - coding silent 4:188147303-188147303 + 8062306 COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + TCGA-14-0865 COSM2155058 c.1298C>T p.P433L Substitution - Missense 4:188147263-188147263 + TCGA-D1-A176-01 COSM1054411 c.1018A>G p.R340G Substitution - Missense 4:188146983-188146983 + TCGA-G4-6320-01 COSM3696596 c.657C>T p.T219T Substitution - coding silent 4:188142404-188142404 + 12T COSM110609 c.612G>A p.E204E Substitution - coding silent 4:188142359-188142359 + T3225 COSM209202 c.983C>T p.A328V Substitution - Missense 4:188146948-188146948 + 2492722 COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + SWE-39 COSM1179915 c.1188A>T p.K396N Substitution - Missense 4:188147153-188147153 + 587288 COSM1230428 c.866C>T p.T289M Substitution - Missense 4:188146831-188146831 + TCGA-46-6026-01 COSM733772 c.183G>C p.E61D Substitution - Missense 4:188139741-188139741 + NB-3211 COSM1288633 c.33G>A p.R11R Substitution - coding silent 4:188139591-188139591 + TCGA-AX-A063-01 COSM1054413 c.1123C>A p.L375M Substitution - Missense 4:188147088-188147088 + UM-SCC-47 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + LUAD-S01357 COSM387514 c.1386C>T p.C462C Substitution - coding silent 4:188147351-188147351 + WSU-HN30 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + YUNEKI COSM1054402 c.716C>T p.S239L Substitution - Missense 4:188142463-188142463 + TCGA-BS-A0UV-01 COSM1054408 c.905C>T p.S302L Substitution - Missense 4:188146870-188146870 + TCGA-EE-A29M-06 COSM3602784 c.261G>A p.Q87Q Substitution - coding silent 4:188139819-188139819 + TCGA-CG-4305-01 COSM4123973 c.102C>T p.S34S Substitution - coding silent 4:188139660-188139660 + HCC017T COSM5814757 c.1286T>A p.I429N Substitution - Missense 4:188147251-188147251 + TCGA-D1-A17Q-01 COSM1054399 c.454G>T p.E152* Substitution - Nonsense 4:188140573-188140573 + TCGA-A5-A0VP-01 COSM1054402 c.716C>T p.S239L Substitution - Missense 4:188142463-188142463 + YUKAT COSM3132077 c.1337C>T p.S446F Substitution - Missense 4:188147302-188147302 + 55 COSM5011380 c.1038G>T p.E346D Substitution - Missense 4:188147003-188147003 + PT37 COSM5918541 c.1078G>A p.D360N Substitution - Missense 4:188147043-188147043 + ESCC_71 COSM5634193 c.746G>A p.G249E Substitution - Missense 4:188143848-188143848 + 587222 COSM1230426 c.434T>G p.L145R Substitution - Missense 4:188140553-188140553 + RK149_C01 COSM3767819 c.886A>T p.N296Y Substitution - Missense 4:188146851-188146851 + CAL27 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + TCGA-AO-A03T-01 COSM447706 c.1116T>A p.P372P Substitution - coding silent 4:188147081-188147081 + HCC064T COSM5809888 c.1000C>A p.Q334K Substitution - Missense 4:188146965-188146965 + YUGAFFE COSM1695322 c.37G>A p.E13K Substitution - Missense 4:188139595-188139595 + TCGA-RP-A695-06 COSM4896106 c.736-1G>A p.? Unknown 4:188143837-188143837 + CSCC-27-T COSM4558226 c.759G>A p.R253R Substitution - coding silent 4:188144036-188144036 + sysucc-1128T COSM1642453 c.1266C>T p.N422N Substitution - coding silent 4:188147231-188147231 + TCGA-EE-A181-06 COSM3602794 c.1104C>T p.L368L Substitution - coding silent 4:188147069-188147069 + TCGA-HT-7677-01 COSM3974845 c.340G>A p.A114T Substitution - Missense 4:188139898-188139898 + 471 COSM3974845 c.340G>A p.A114T Substitution - Missense 4:188139898-188139898 + TCGA-G4-6586-01 COSM1429088 c.249C>A p.S83S Substitution - coding silent 4:188139807-188139807 + LAU63 COSM234319 c.170G>A p.W57* Substitution - Nonsense 4:188139728-188139728 + CAL33 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + PD4116a COSM3664660 c.1355A>T p.E452V Substitution - Missense 4:188147320-188147320 + TCGA-13-0723-01 COSM76826 c.1333T>A p.F445I Substitution - Missense 4:188147298-188147298 + T3064 COSM4736272 c.836A>C p.E279A Substitution - Missense 4:188144113-188144113 + TCGA-FS-A1ZQ-06 COSM447705 c.1071C>T p.I357I Substitution - coding silent 4:188147036-188147036 + S02093 COSM3946253 c.1005C>A p.I335I Substitution - coding silent 4:188146970-188146970 + TCGA-C5-A1BL-01 COSM4837090 c.1227C>T p.V409V Substitution - coding silent 4:188147192-188147192 + TCGA-BG-A18B-01 COSM1054400 c.579G>T p.E193D Substitution - Missense 4:188142326-188142326 + LUAD-YKER9 COSM352157 c.1268G>T p.G423V Substitution - Missense 4:188147233-188147233 + TCGA-56-5897-01 COSM733767 c.857C>A p.T286K Substitution - Missense 4:188146822-188146822 + TCGA-D8-A1JC-01 COSM1485895 c.323A>T p.D108V Substitution - Missense 4:188139881-188139881 + 8068564 COSM3780262 c.339C>T p.S113S Substitution - coding silent 4:188139897-188139897 + 618-1503-04TD COSM146045 c.19A>C p.M7L Substitution - Missense 4:188139577-188139577 + TCGA-EE-A29L-06 COSM3602785 c.265G>A p.E89K Substitution - Missense 4:188139823-188139823 + CSCC-52-T COSM4505248 c.687C>T p.I229I Substitution - coding silent 4:188142434-188142434 + UM-SCC-17B COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + TCGA-B5-A11E-01 COSM225204 c.88G>A p.E30K Substitution - Missense 4:188139646-188139646 + TCGA-06-0173-01 COSM2150429 c.1170G>T p.W390C Substitution - Missense 4:188147135-188147135 + LUAD-NYU584S COSM375239 c.181G>T p.E61* Substitution - Nonsense 4:188139739-188139739 + 2250214 COSM5029563 c.148C>A p.P50T Substitution - Missense 4:188139706-188139706 + 6481_CLM COSM5756470 c.494A>C p.K165T Substitution - Missense 4:188140613-188140613 + HT115 COSM3132041 c.224C>T p.A75V Substitution - Missense 4:188139782-188139782 + TCGA-BR-4369-01 COSM4123980 c.1217A>C p.K406T Substitution - Missense 4:188147182-188147182 + ccRCC-87 COSM1540183 c.857C>T p.T286M Substitution - Missense 4:188146822-188146822 + ME049T COSM230050 c.215G>A p.G72E Substitution - Missense 4:188139773-188139773 + YULOCUS COSM3602794 c.1104C>T p.L368L Substitution - coding silent 4:188147069-188147069 + TCGA-ER-A193-06 COSM3602790 c.645G>A p.E215E Substitution - coding silent 4:188142392-188142392 + B110-Tumor COSM1753681 c.453G>A p.K151K Substitution - coding silent 4:188140572-188140572 + HCC2218 COSM32227 c.61G>C p.D21H Substitution - Missense 4:188139619-188139619 + TCGA-DA-A3F8-06 COSM1695322 c.37G>A p.E13K Substitution - Missense 4:188139595-188139595 + TCGA-18-3409-01 COSM733771 c.371G>A p.R124K Substitution - Missense 4:188139929-188139929 + 2973_T COSM3946255 c.1392G>C p.L464L Substitution - coding silent 4:188147357-188147357 + SC_9107 COSM3674155 c.311C>T p.A104V Substitution - Missense 4:188139869-188139869 + S00841 COSM318179 c.1322T>A p.L441H Substitution - Missense 4:188147287-188147287 + SCC-15 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + Pat_15_B COSM4418408 c.387C>A p.S129R Substitution - Missense 4:188139945-188139945 + TCGA-G4-6314-01 COSM3696597 c.1025A>G p.Y342C Substitution - Missense 4:188146990-188146990 + TCGA-BR-8382-01 COSM4123977 c.906G>A p.S302S Substitution - coding silent 4:188146871-188146871 + SJMB031 COSM255419 c.484G>T p.E162* Substitution - Nonsense 4:188140603-188140603 + TCGA-AP-A0LM-01 COSM1054407 c.867G>A p.T289T Substitution - coding silent 4:188146832-188146832 + TCGA-A8-A09N-01 COSM447705 c.1071C>T p.I357I Substitution - coding silent 4:188147036-188147036 + SC_9030 COSM5568243 c.1177T>A p.S393T Substitution - Missense 4:188147142-188147142 + 618 COSM146045 c.19A>C p.M7L Substitution - Missense 4:188139577-188139577 + TCGA-GN-A263-01 COSM3602789 c.618G>A p.E206E Substitution - coding silent 4:188142365-188142365 + TCGA-B5-A11E-01 COSM1054404 c.762C>T p.S254S Substitution - coding silent 4:188144039-188144039 + TCGA-EE-A3JD-06 COSM4395482 c.1098G>A p.G366G Substitution - coding silent 4:188147063-188147063 + TCGA-EE-A29E-06 COSM3602782 c.177C>T p.T59T Substitution - coding silent 4:188139735-188139735 + PCSI_0224_Pa_P_526 COSM3780263 c.1271C>T p.T424M Substitution - Missense 4:188147236-188147236 + 2492720 COSM84882 c.825G>A p.T275T Substitution - coding silent 4:188144102-188144102 + TCGA-GN-A26C-01 COSM3602795 c.1120G>A p.D374N Substitution - Missense 4:188147085-188147085 + TCGA-29-1703-01 COSM1328569 c.1319delC p.L441fs*24 Deletion - Frameshift 4:188147284-188147284 + ESO-752 COSM1268596 c.1062A>C p.E354D Substitution - Missense 4:188147027-188147027 + CLL013 COSM1291888 c.483G>A p.K161K Substitution - coding silent 4:188140602-188140602 + TCGA-B5-A11O-01 COSM1054406 c.859G>T p.E287* Substitution - Nonsense 4:188146824-188146824 + CLL136 COSM1291887 c.285C>T p.Y95Y Substitution - coding silent 4:188139843-188139843 + PT48 COSM5931565 c.541G>A p.E181K Substitution - Missense 4:188142288-188142288 + C086 COSM5540831 c.21G>A p.M7I Substitution - Missense 4:188139579-188139579 + Pat_76_B COSM5866172 c.335G>A p.G112E Substitution - Missense 4:188139893-188139893 + I2L-P25-Tumor-Organoid COSM5356070 c.1103T>A p.L368H Substitution - Missense 4:188147068-188147068 + J57_T COSM3946254 c.1202G>A p.R401K Substitution - Missense 4:188147167-188147167 + LUAD-B01169 COSM333664 c.657C>G p.T219T Substitution - coding silent 4:188142404-188142404 + sysucc-912T COSM3780263 c.1271C>T p.T424M Substitution - Missense 4:188147236-188147236 + TCGA-AG-A002-01 COSM264199 c.724G>A p.E242K Substitution - Missense 4:188142471-188142471 + TCGA-GU-A42R-01 COSM3775748 c.433C>G p.L145V Substitution - Missense 4:188140552-188140552 + 2217530 COSM1054402 c.716C>T p.S239L Substitution - Missense 4:188142463-188142463 + 032T COSM1728463 c.134A>T p.E45V Substitution - Missense 4:188139692-188139692 + PD4116a COSM3664660 c.1355A>T p.E452V Substitution - Missense 4:188147320-188147320 + YUFIT COSM5400988 c.421G>A p.E141K Substitution - Missense 4:188140540-188140540 + UM-SCC-4 COSM4592514 c.762C>G p.S254R Substitution - Missense 4:188144039-188144039 + TCGA-34-2600-01 COSM733766 c.874C>A p.P292T Substitution - Missense 4:188146839-188146839 + TCGA-B5-A11N-01 COSM1054412 c.1061A>G p.E354G Substitution - Missense 4:188147026-188147026 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.348618 4q35.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E354D c.1062A>C 4 189068181 ESCA A C Missense p.K406T c.1217A>C 4 189068336 STAD A C Missense p.M7L c.19A>C 4 189060731 CLL A C Synonymous p.S463S c.1389A>C 4 189068508 LUAD A G IntronicSNV . c.736-160A>G 4 189064832 CM A G Missense p.S43G c.127A>G 4 189060839 ESCA A T Missense p.D108V c.323A>T 4 189061035 BRCA A T Missense p.S466C c.1396A>T 4 189068515 CM C A IntronicSNV . c.736-632C>A 4 189064360 PIA C A Missense p.H399Q c.1197C>A 4 189068316 LUAD C A Missense p.L127I c.379C>A 4 189061091 LUAD C A Missense p.L375M c.1123C>A 4 189068242 UCEC C A Missense p.P292T c.874C>A 4 189067993 LUSC C A Missense p.P321Q c.962C>A 4 189068081 HNSC C A Missense p.P321Q c.962C>A 4 189068081 STAD C A Missense p.P403H c.1208C>A 4 189068327 HNSC C A Missense p.S285R c.855C>A 4 189065286 HNSC C A Missense p.S446Y c.1337C>A 4 189068456 THCA C A Missense p.S83Y c.248C>A 4 189060960 HNSC C A Missense p.T158N c.473C>A 4 189061746 CM C A Missense p.T286K c.857C>A 4 189067976 LUSC C A Nonsense p.C272* c.816C>A 4 189065247 LUSC C A Nonsense p.C462* c.1386C>A 4 189068505 LUAD C A Synonymous p.T15T c.45C>A 4 189060757 LUAD CC TT Missense p.A440V c.1319_1320delinsTT 4 189068438 CM C G Synonymous p.G93G c.279C>G 4 189060991 ESCA C G Synonymous p.L299L c.897C>G 4 189068016 LUSC C G Synonymous p.T219T c.657C>G 4 189063558 LUAD C T 5-UTRSNV . c.1-45C>T 4 189060668 CM C T IntronicSNV . c.736-55C>T 4 189064937 CM C T IntronicSNV . c.856+49C>T 4 189065336 NSCLC C T Missense p.A104V c.311C>T 4 189061023 PRAD C T Missense p.A104V c.311C>T 4 189061023 STAD C T Missense p.A155V c.464C>T 4 189061737 CM C T Missense p.A328V c.983C>T 4 189068102 COREAD C T Missense p.A328V c.983C>T 4 189068102 GBM C T Missense p.P433L c.1298C>T 4 189068417 GBM C T Missense p.P54L c.161C>T 4 189060873 CM C T Missense p.P63L c.188C>T 4 189060900 UCEC C T Missense p.S239L c.716C>T 4 189063617 UCEC C T Missense p.S302L c.905C>T 4 189068024 BRCA C T Missense p.S446F c.1337C>T 4 189068456 CM C T Missense p.S83F c.248C>T 4 189060960 CM C T Missense p.T275M c.824C>T 4 189065255 GBM C T Synonymous p.F115F c.345C>T 4 189061057 CM C T Synonymous p.F188F c.564C>T 4 189063465 CM C T Synonymous p.F284F c.852C>T 4 189065283 COREAD C T Synonymous p.H399H c.1197C>T 4 189068316 THCA C T Synonymous p.H467H c.1401C>T 4 189068520 ESCA C T Synonymous p.I357I c.1071C>T 4 189068190 BRCA C T Synonymous p.I357I c.1071C>T 4 189068190 CM C T Synonymous p.I383I c.1149C>T 4 189068268 CM C T Synonymous p.L257L c.771C>T 4 189065202 LUAD C T Synonymous p.L299L c.897C>T 4 189068016 CM C T Synonymous p.L299L c.897C>T 4 189068016 GBM C T Synonymous p.L368L c.1104C>T 4 189068223 CM C T Synonymous p.L37L c.109C>T 4 189060821 CM C T Synonymous p.L40L c.120C>T 4 189060832 THCA C T Synonymous p.N422N c.1266C>T 4 189068385 STAD C T Synonymous p.S34S c.102C>T 4 189060814 STAD C T Synonymous p.S446S c.1338C>T 4 189068457 CM C T Synonymous p.Y95Y c.285C>T 4 189060997 CLL G A IntronicSNV . c.736-50G>A 4 189064942 CM G A IntronicSNV . c.857-373G>A 4 189067603 CLL G A Missense p.A114T c.340G>A 4 189061052 LGG G A Missense p.D319N c.955G>A 4 189068074 STAD G A Missense p.D374N c.1120G>A 4 189068239 CM G A Missense p.D385N c.1153G>A 4 189068272 CM G A Missense p.D425N c.1273G>A 4 189068392 CM G A Missense p.E13K c.37G>A 4 189060749 CM G A Missense p.E246K c.736G>A 4 189064992 CM G A Missense p.E252K c.754G>A 4 189065010 CM G A Missense p.E30K c.88G>A 4 189060800 CM G A Missense p.E354K c.1060G>A 4 189068179 CM G A Missense p.E89K c.265G>A 4 189060977 CM G A Missense p.E8K c.22G>A 4 189060734 CM G A Missense p.G423E c.1268G>A 4 189068387 STAD G A Missense p.G72E c.215G>A 4 189060927 CM G A Missense p.R150K c.449G>A 4 189061722 CM G A Missense p.R70H c.209G>A 4 189060921 PRAD G A Missense p.S119N c.356G>A 4 189061068 BRCA G A Missense p.V468I c.1402G>A 4 189068521 LGG G A Synonymous p.E206E c.618G>A 4 189063519 CM G A Synonymous p.E215E c.645G>A 4 189063546 CM G A Synonymous p.G311G c.933G>A 4 189068052 CM G A Synonymous p.G366G c.1098G>A 4 189068217 CM G A Synonymous p.K161K c.483G>A 4 189061756 CLL G A Synonymous p.K359K c.1077G>A 4 189068196 CM G A Synonymous p.K365K c.1095G>A 4 189068214 CM G A Synonymous p.L211L c.633G>A 4 189063534 LUAD G A Synonymous p.Q434Q c.1302G>A 4 189068421 CM G A Synonymous p.Q87Q c.261G>A 4 189060973 CM G A Synonymous p.R11R c.33G>A 4 189060745 NB G A Synonymous p.R82R c.246G>A 4 189060958 UCEC G A Synonymous p.R97R c.291G>A 4 189061003 CM G A Synonymous p.S239S c.717G>A 4 189063618 UCEC G A Synonymous p.T275T c.825G>A 4 189065256 CM G A Synonymous p.T286T c.858G>A 4 189067977 COREAD G A Synonymous p.V85V c.255G>A 4 189060967 GBM G C Missense p.D325H c.973G>C 4 189068092 UCEC G C Missense p.E192D c.576G>C 4 189063477 GBM G C Missense p.E61D c.183G>C 4 189060895 LUSC G C Synonymous p.L331L c.993G>C 4 189068112 NSCLC G T Missense p.C167F c.500G>T 4 189061773 LUAD G T Missense p.C261F c.782G>T 4 189065213 LUSC G T Missense p.E130D c.390G>T 4 189061102 LUAD G T Missense p.E193D c.579G>T 4 189063480 UCEC G T Missense p.G111C c.331G>T 4 189061043 LUAD G T Missense p.G339W c.1015G>T 4 189068134 LUAD G T Missense p.R253S c.759G>T 4 189065190 LUSC G T Missense p.R79S c.237G>T 4 189060949 UCEC G T Missense p.V400F c.1198G>T 4 189068317 LUAD G T Missense p.W343L c.1028G>T 4 189068147 HNSC G T Missense p.W390C c.1170G>T 4 189068289 GBM G T Missense p.W44L c.131G>T 4 189060843 CM G T Synonymous p.G453G c.1359G>T 4 189068478 CM G T Synonymous p.S392S c.1176G>T 4 189068295 LUAD T A Missense p.F445I c.1333T>A 4 189068452 OV T A Missense p.L441H c.1322T>A 4 189068441 SCLC T A Missense p.L81H c.242T>A 4 189060954 CM T A Missense p.S83T c.247T>A 4 189060959 UCEC T A Synonymous p.P372P c.1116T>A 4 189068235 BRCA T C IntronicSNV . c.736-120T>C 4 189064872 ESCA T C Missense p.C261R c.781T>C 4 189065212 LUAD