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 1 244218382 244218382 + Missense_Mutation SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr1:244218382C>T c.1306C>T c.(1306-1308)Cgc>Tgc p.R436C BLCA 1 244217170 244217170 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr1:244217170C>T c.94C>T c.(94-96)Ctt>Ttt p.L32F BLCA 1 244217353 244217353 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:244217353G>C c.277G>C c.(277-279)Gaa>Caa p.E93Q BLCA 1 244218534 244218534 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr1:244218534G>A c.1458G>A c.(1456-1458)caG>caA p.Q486Q BLCA 1 244218572 244218572 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:244218572G>C c.1496G>C c.(1495-1497)tGt>tCt p.C499S BLCA 1 244218646 244218646 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr1:244218646G>C c.1570G>C c.(1570-1572)Gat>Cat p.D524H BRCA 1 244217588 244217588 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr1:244217588G>C c.512G>C c.(511-513)gGa>gCa p.G171A BRCA 1 244217994 244217997 + Frame_Shift_Del DEL GAAA GAAA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr1:244217994_244217997delGAAA c.918_921delGAAA c.(916-921)gtgaaafs p.VK306fs BRCA 1 244218061 244218061 + Missense_Mutation SNP G G T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 g.chr1:244218061G>T c.985G>T c.(985-987)Gac>Tac p.D329Y BRCA 1 244218261 244218261 + Silent SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 g.chr1:244218261G>A c.1185G>A c.(1183-1185)caG>caA p.Q395Q BRCA 1 244218516 244218516 + Silent SNP C C T TCGA-A2-A04R-01A-41D-A117-09 TCGA-A2-A04R-10B-01D-A10G-09 g.chr1:244218516C>T c.1440C>T c.(1438-1440)tgC>tgT p.C480C CESC 1 244217341 244217341 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 g.chr1:244217341G>C c.265G>C c.(265-267)Gaa>Caa p.E89Q CESC 1 244217392 244217392 + Missense_Mutation SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 g.chr1:244217392G>T c.316G>T c.(316-318)Gtg>Ttg p.V106L CESC 1 244217494 244217494 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr1:244217494G>A c.418G>A c.(418-420)Gaa>Aaa p.E140K CESC 1 244217625 244217625 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr1:244217625G>A c.549G>A c.(547-549)agG>agA p.R183R CESC 1 244217802 244217802 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chr1:244217802G>A c.726G>A c.(724-726)tcG>tcA p.S242S COAD 1 244217563 244217563 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:244217563G>A c.487G>A c.(487-489)Gat>Aat p.D163N COAD 1 244217563 244217563 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:244217563G>A c.487G>A c.(487-489)Gat>Aat p.D163N COAD 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:244217659C>T c.583C>T c.(583-585)Cga>Tga p.R195* COAD 1 244217894 244217894 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:244217894T>C c.818T>C c.(817-819)gTg>gCg p.V273A COAD 1 244218199 244218199 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:244218199G>A c.1123G>A c.(1123-1125)Gcg>Acg p.A375T COAD 1 244218232 244218232 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:244218232A>G c.1156A>G c.(1156-1158)Aag>Gag p.K386E COAD 1 244218284 244218284 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:244218284G>A c.1208G>A c.(1207-1209)cGc>cAc p.R403H COAD 1 244218336 244218336 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:244218336G>A c.1260G>A c.(1258-1260)acG>acA p.T420T COADREAD 1 244217563 244217563 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:244217563G>A c.487G>A c.(487-489)Gat>Aat p.D163N COADREAD 1 244217563 244217563 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:244217563G>A c.487G>A c.(487-489)Gat>Aat p.D163N COADREAD 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:244217659C>T c.583C>T c.(583-585)Cga>Tga p.R195* COADREAD 1 244217894 244217894 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:244217894T>C c.818T>C c.(817-819)gTg>gCg p.V273A COADREAD 1 244218199 244218199 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:244218199G>A c.1123G>A c.(1123-1125)Gcg>Acg p.A375T COADREAD 1 244218232 244218232 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:244218232A>G c.1156A>G c.(1156-1158)Aag>Gag p.K386E COADREAD 1 244218284 244218284 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:244218284G>A c.1208G>A c.(1207-1209)cGc>cAc p.R403H COADREAD 1 244218336 244218336 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:244218336G>A c.1260G>A c.(1258-1260)acG>acA p.T420T DLBC 1 244217662 244217662 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:244217662T>C c.586T>C c.(586-588)Ttg>Ctg p.L196L ESCA 1 244217095 244217095 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr1:244217095G>A c.19G>A c.(19-21)Gaa>Aaa p.E7K ESCA 1 244217284 244217284 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr1:244217284G>A c.208G>A c.(208-210)Gac>Aac p.D70N ESCA 1 244217428 244217428 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr1:244217428A>G c.352A>G c.(352-354)Att>Gtt p.I118V GBMLGG 1 244217137 244217138 + Frame_Shift_Ins INS - - A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 g.chr1:244217137_244217138insA c.61_62insA c.(61-63)cagfs p.Q21fs GBMLGG 1 244217153 244217154 + Frame_Shift_Del DEL AG AG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 g.chr1:244217153_244217154delAG c.77_78delAG c.(76-78)cagfs p.Q26fs GBMLGG 1 244218427 244218427 + Nonsense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 g.chr1:244218427C>T c.1351C>T c.(1351-1353)Cag>Tag p.Q451* GBMLGG 1 244218515 244218515 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr1:244218515G>A c.1439G>A c.(1438-1440)tGc>tAc p.C480Y GBMLGG 1 244218516 244218516 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:244218516C>T c.1440C>T c.(1438-1440)tgC>tgT p.C480C GBMLGG 1 244218559 244218559 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 g.chr1:244218559C>T c.1483C>T c.(1483-1485)Cgc>Tgc p.R495C HNSC 1 244217113 244217113 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr1:244217113C>G c.37C>G c.(37-39)Cca>Gca p.P13A HNSC 1 244217124 244217125 + Frame_Shift_Ins INS - - A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 g.chr1:244217124_244217125insA c.48_49insA c.(49-51)agafs p.R17fs HNSC 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 g.chr1:244217659C>T c.583C>T c.(583-585)Cga>Tga p.R195* HNSC 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr1:244217659C>T c.583C>T c.(583-585)Cga>Tga p.R195* HNSC 1 244218341 244218341 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:244218341C>T c.1265C>T c.(1264-1266)tCg>tTg p.S422L HNSC 1 244218342 244218342 + Silent SNP G G A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr1:244218342G>A c.1266G>A c.(1264-1266)tcG>tcA p.S422S HNSC 1 244218372 244218372 + Silent SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 g.chr1:244218372C>T c.1296C>T c.(1294-1296)taC>taT p.Y432Y KICH 1 244218131 244218131 + Missense_Mutation SNP A A G TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr1:244218131A>G c.1055A>G c.(1054-1056)gAg>gGg p.E352G KIPAN 1 244218131 244218131 + Missense_Mutation SNP A A G TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr1:244218131A>G c.1055A>G c.(1054-1056)gAg>gGg p.E352G KIPAN 1 244218338 244218338 + Missense_Mutation SNP G G T TCGA-B2-4099-01A-02D-1458-08 TCGA-B2-4099-10A-01D-1458-08 g.chr1:244218338G>T c.1262G>T c.(1261-1263)tGc>tTc p.C421F KIPAN 1 244218407 244218407 + Missense_Mutation SNP A A G TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr1:244218407A>G c.1331A>G c.(1330-1332)gAg>gGg p.E444G KIRC 1 244218338 244218338 + Missense_Mutation SNP G G T TCGA-B2-4099-01A-02D-1458-08 TCGA-B2-4099-10A-01D-1458-08 g.chr1:244218338G>T c.1262G>T c.(1261-1263)tGc>tTc p.C421F KIRP 1 244218407 244218407 + Missense_Mutation SNP A A G TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr1:244218407A>G c.1331A>G c.(1330-1332)gAg>gGg p.E444G LGG 1 244217137 244217138 + Frame_Shift_Ins INS - - A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 g.chr1:244217137_244217138insA c.61_62insA c.(61-63)cagfs p.Q21fs LGG 1 244217153 244217154 + Frame_Shift_Del DEL AG AG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 g.chr1:244217153_244217154delAG c.77_78delAG c.(76-78)cagfs p.Q26fs LGG 1 244218427 244218427 + Nonsense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 g.chr1:244218427C>T c.1351C>T c.(1351-1353)Cag>Tag p.Q451* LGG 1 244218515 244218515 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr1:244218515G>A c.1439G>A c.(1438-1440)tGc>tAc p.C480Y LGG 1 244218516 244218516 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:244218516C>T c.1440C>T c.(1438-1440)tgC>tgT p.C480C LGG 1 244218559 244218559 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 g.chr1:244218559C>T c.1483C>T c.(1483-1485)Cgc>Tgc p.R495C LIHC 1 244217368 244217368 + Missense_Mutation SNP T T C TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr1:244217368T>C c.292T>C c.(292-294)Ttc>Ctc p.F98L LIHC 1 244217640 244217640 + Missense_Mutation SNP G G T TCGA-K7-A5RG-01A-11D-A28X-10 TCGA-K7-A5RG-10A-01D-A28X-10 g.chr1:244217640G>T c.564G>T c.(562-564)gaG>gaT p.E188D LIHC 1 244218178 244218178 + Missense_Mutation SNP G G T TCGA-DD-AADC-01A-11D-A40R-10 TCGA-DD-AADC-10A-01D-A40U-10 g.chr1:244218178G>T c.1102G>T c.(1102-1104)Gtc>Ttc p.V368F LIHC 1 244218375 244218375 + Silent SNP C C A TCGA-DD-A4NO-01A-11D-A28X-10 TCGA-DD-A4NO-10A-01D-A28X-10 g.chr1:244218375C>A c.1299C>A c.(1297-1299)acC>acA p.T433T LIHC 1 244218434 244218434 + Missense_Mutation SNP G G T TCGA-DD-A1EL-01A-11D-A152-10 TCGA-DD-A1EL-10A-01D-A152-10 g.chr1:244218434G>T c.1358G>T c.(1357-1359)gGc>gTc p.G453V LIHC 1 244218512 244218512 + Nonsense_Mutation SNP G G A TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr1:244218512G>A c.1436G>A c.(1435-1437)tGg>tAg p.W479* LUAD 1 244217323 244217323 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr1:244217323G>T c.247G>T c.(247-249)Gct>Tct p.A83S LUAD 1 244217638 244217638 + Nonsense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr1:244217638G>T c.562G>T c.(562-564)Gag>Tag p.E188* LUAD 1 244217639 244217639 + Missense_Mutation SNP A A T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr1:244217639A>T c.563A>T c.(562-564)gAg>gTg p.E188V LUAD 1 244217947 244217947 + Missense_Mutation SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:244217947G>A c.871G>A c.(871-873)Gag>Aag p.E291K LUAD 1 244218033 244218033 + Missense_Mutation SNP G G T TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr1:244218033G>T c.957G>T c.(955-957)gaG>gaT p.E319D LUAD 1 244218218 244218218 + Missense_Mutation SNP G G T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr1:244218218G>T c.1142G>T c.(1141-1143)tGc>tTc p.C381F LUAD 1 244218390 244218390 + Silent SNP G G A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr1:244218390G>A c.1314G>A c.(1312-1314)gaG>gaA p.E438E LUAD 1 244218404 244218404 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:244218404G>T c.1328G>T c.(1327-1329)gGg>gTg p.G443V LUAD 1 244218469 244218469 + Missense_Mutation SNP C C A TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr1:244218469C>A c.1393C>A c.(1393-1395)Cat>Aat p.H465N LUAD 1 244218481 244218481 + Missense_Mutation SNP C C A TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr1:244218481C>A c.1405C>A c.(1405-1407)Cac>Aac p.H469N LUAD 1 244218618 244218618 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr1:244218618G>A c.1542G>A c.(1540-1542)ttG>ttA p.L514L LUSC 1 244217443 244217443 + Missense_Mutation SNP A A G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr1:244217443A>G c.367A>G c.(367-369)Aaa>Gaa p.K123E LUSC 1 244218085 244218085 + Missense_Mutation SNP C C T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr1:244218085C>T c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W LUSC 1 244218145 244218145 + Nonsense_Mutation SNP G G T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 g.chr1:244218145G>T c.1069G>T c.(1069-1071)Gag>Tag p.E357* LUSC 1 244218431 244218431 + Missense_Mutation SNP G G A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr1:244218431G>A c.1355G>A c.(1354-1356)tGc>tAc p.C452Y LUSC 1 244218490 244218490 + Nonsense_Mutation SNP G G T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 g.chr1:244218490G>T c.1414G>T c.(1414-1416)Gag>Tag p.E472* LUSC 1 244218625 244218625 + Missense_Mutation SNP G G A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr1:244218625G>A c.1549G>A c.(1549-1551)Gtc>Atc p.V517I OV 1 244217166 244217170 + Frame_Shift_Del DEL TTTTC TTTTC - TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr1:244217166_244217170delTTTTC c.90_94delTTTTC c.(88-96)ggttttcttfs p.FL31fs OV 1 244217893 244217893 + Missense_Mutation SNP G G A TCGA-13-1512-01A-01W-0545-08 TCGA-13-1512-10A-01W-0546-08 g.chr1:244217893G>A c.817G>A c.(817-819)Gtg>Atg p.V273M OV 1 244218271 244218271 + Missense_Mutation SNP A A T TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 g.chr1:244218271A>T c.1195A>T c.(1195-1197)Agc>Tgc p.S399C PAAD 1 244218555 244218555 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:244218555C>T c.1479C>T c.(1477-1479)caC>caT p.H493H PRAD 1 244217201 244217201 + Missense_Mutation SNP C C T TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 g.chr1:244217201C>T c.125C>T c.(124-126)gCc>gTc p.A42V SARC 1 244217518 244217518 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:244217518G>A c.442G>A c.(442-444)Gac>Aac p.D148N SARC 1 244217791 244217791 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 g.chr1:244217791G>T c.715G>T c.(715-717)Gtg>Ttg p.V239L SKCM 1 244217611 244217611 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr1:244217611C>T c.535C>T c.(535-537)Ctg>Ttg p.L179L SKCM 1 244217908 244217908 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:244217908C>T c.832C>T c.(832-834)Ctg>Ttg p.L278L SKCM 1 244218069 244218069 + Silent SNP C C T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr1:244218069C>T c.993C>T c.(991-993)gtC>gtT p.V331V SKCM 1 244218166 244218166 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:244218166C>T c.1090C>T c.(1090-1092)Ctg>Ttg p.L364L SKCM 1 244218220 244218220 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:244218220C>T c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S SKCM 1 244218222 244218222 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr1:244218222C>T c.1146C>T c.(1144-1146)ccC>ccT p.P382P SKCM 1 244218280 244218280 + Missense_Mutation SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:244218280T>C c.1204T>C c.(1204-1206)Ttc>Ctc p.F402L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 244218534 244218534 single base substitution G A synonymous_variant Q486Q 1458G>A BLCA-US 1 244218572 244218572 single base substitution G C missense_variant C499S 1496G>C BOCA-FR 1 244215244 244215244 single base substitution T C intron_variant BRCA-EU 1 244210930 244210930 single base substitution G C upstream_gene_variant BRCA-EU 1 244212565 244212565 single base substitution C G upstream_gene_variant BRCA-EU 1 244213211 244213211 single base substitution C A upstream_gene_variant BRCA-EU 1 244214258 244214258 single base substitution G C upstream_gene_variant BRCA-EU 1 244214527 244214527 single base substitution G C upstream_gene_variant BRCA-EU 1 244214598 244214598 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 244215046 244215046 single base substitution A T intron_variant BRCA-EU 1 244215258 244215258 deletion of <=200bp A - intron_variant BRCA-EU 1 244215534 244215534 single base substitution G A intron_variant BRCA-EU 1 244215787 244215787 single base substitution A C intron_variant BRCA-EU 1 244216097 244216097 single base substitution A G intron_variant BRCA-EU 1 244216122 244216122 deletion of <=200bp A - intron_variant BRCA-EU 1 244216544 244216544 deletion of <=200bp T - intron_variant BRCA-EU 1 244217007 244217007 single base substitution G A intron_variant BRCA-EU 1 244217318 244217318 single base substitution C T missense_variant A81V 242C>T BRCA-EU 1 244218114 244218114 single base substitution G A missense_variant M346I 1038G>A BRCA-EU 1 244219574 244219574 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 244219574 244219574 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 244219574 244219574 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 244219951 244219951 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 244220047 244220047 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 244221607 244221607 single base substitution G A downstream_gene_variant BRCA-EU 1 244221697 244221697 single base substitution T C downstream_gene_variant BRCA-EU 1 244221893 244221893 single base substitution G C downstream_gene_variant BRCA-EU 1 244222259 244222259 single base substitution C T downstream_gene_variant BRCA-EU 1 244223075 244223075 single base substitution G C downstream_gene_variant BRCA-EU 1 244223088 244223088 single base substitution G A downstream_gene_variant BRCA-EU 1 244223224 244223224 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 244223315 244223315 single base substitution G A downstream_gene_variant BRCA-EU 1 244223558 244223558 single base substitution A T downstream_gene_variant BRCA-EU 1 244223799 244223799 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 244223949 244223949 single base substitution C G downstream_gene_variant BRCA-EU 1 244225388 244225388 single base substitution C T downstream_gene_variant BRCA-EU 1 244225460 244225460 single base substitution C G downstream_gene_variant BRCA-EU 1 244225739 244225739 single base substitution A C downstream_gene_variant BRCA-FR 1 244210930 244210930 single base substitution G C upstream_gene_variant BRCA-FR 1 244212565 244212565 single base substitution C G upstream_gene_variant BRCA-FR 1 244216782 244216782 single base substitution G A intron_variant BRCA-FR 1 244220167 244220167 single base substitution C T 3_prime_UTR_variant BRCA-FR 1 244223759 244223759 single base substitution A T downstream_gene_variant BRCA-UK 1 244216415 244216415 single base substitution C G intron_variant BRCA-UK 1 244217293 244217293 single base substitution C T missense_variant H73Y 217C>T BRCA-UK 1 244225739 244225739 single base substitution A C downstream_gene_variant BRCA-US 1 244217588 244217588 single base substitution G C missense_variant G171A 512G>C BRCA-US 1 244217994 244217997 deletion of <=200bp GAAA - frameshift_variant VK306 BRCA-US 1 244218061 244218061 single base substitution G T missense_variant D329Y 985G>T BRCA-US 1 244218261 244218261 single base substitution G A synonymous_variant Q395Q 1185G>A BRCA-US 1 244218516 244218516 single base substitution C T synonymous_variant C480C 1440C>T BTCA-JP 1 244217304 244217304 single base substitution C T synonymous_variant S76S 228C>T CESC-US 1 244210228 244210228 single base substitution G A upstream_gene_variant CESC-US 1 244217341 244217341 single base substitution G C missense_variant E89Q 265G>C CESC-US 1 244217392 244217392 single base substitution G T missense_variant V106L 316G>T CESC-US 1 244217494 244217494 single base substitution G A missense_variant E140K 418G>A CESC-US 1 244217625 244217625 single base substitution G A synonymous_variant R183R 549G>A CESC-US 1 244217802 244217802 single base substitution G A synonymous_variant S242S 726G>A COAD-US 1 244217563 244217563 single base substitution G A missense_variant D163N 487G>A COAD-US 1 244217659 244217659 single base substitution C T stop_gained R195* 583C>T COAD-US 1 244218232 244218232 single base substitution A G missense_variant K386E 1156A>G COAD-US 1 244220227 244220227 deletion of <=200bp C - 3_prime_UTR_variant COCA-CN 1 244214618 244214618 single base substitution C A 5_prime_UTR_variant COCA-CN 1 244217286 244217286 single base substitution C T synonymous_variant D70D 210C>T COCA-CN 1 244217659 244217659 single base substitution C T stop_gained R195* 583C>T COCA-CN 1 244218323 244218323 single base substitution T A missense_variant V416D 1247T>A EOPC-DE 1 244210220 244210220 single base substitution A G upstream_gene_variant ESAD-UK 1 244209783 244209783 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 1 244211038 244211038 single base substitution G A upstream_gene_variant ESAD-UK 1 244213951 244213951 single base substitution G T upstream_gene_variant ESAD-UK 1 244215405 244215405 single base substitution T A intron_variant ESAD-UK 1 244216199 244216199 single base substitution A T intron_variant ESAD-UK 1 244217619 244217619 single base substitution C G missense_variant S181R 543C>G ESAD-UK 1 244218280 244218280 single base substitution T G missense_variant F402V 1204T>G ESAD-UK 1 244219393 244219393 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 1 244219491 244219491 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 244222487 244222487 single base substitution G A downstream_gene_variant ESAD-UK 1 244225031 244225031 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 244225705 244225705 single base substitution A C downstream_gene_variant ESCA-CN 1 244218452 244218452 single base substitution C T missense_variant S459L 1376C>T ESCA-CN 1 244218646 244218646 single base substitution G C missense_variant D524H 1570G>C KIRC-US 1 244218338 244218338 single base substitution G T missense_variant C421F 1262G>T LGG-US 1 244217153 244217154 deletion of <=200bp AG - frameshift_variant Q26 LGG-US 1 244218515 244218515 single base substitution G A missense_variant C480Y 1439G>A LICA-FR 1 244217402 244217411 deletion of <=200bp CTGCCAGTTA - frameshift_variant AASY109 LICA-FR 1 244217662 244217662 single base substitution T G missense_variant L196V 586T>G LICA-FR 1 244219541 244219541 single base substitution A T 3_prime_UTR_variant LICA-FR 1 244220816 244220816 single base substitution A G downstream_gene_variant LIHC-US 1 244217640 244217640 single base substitution G T missense_variant E188D 564G>T LIHC-US 1 244218375 244218375 single base substitution C A synonymous_variant T433T 1299C>A LIHC-US 1 244218434 244218434 single base substitution G T missense_variant G453V 1358G>T LINC-JP 1 244217541 244217541 single base substitution T A missense_variant D155E 465T>A LINC-JP 1 244218352 244218352 single base substitution A C missense_variant K426Q 1276A>C LINC-JP 1 244220967 244220967 single base substitution C T downstream_gene_variant LIRI-JP 1 244213486 244213486 single base substitution G A upstream_gene_variant LIRI-JP 1 244215538 244215538 single base substitution C G intron_variant LIRI-JP 1 244215750 244215752 deletion of <=200bp AGA - intron_variant LIRI-JP 1 244215994 244215994 insertion of <=200bp - T intron_variant LIRI-JP 1 244217939 244217939 single base substitution C G missense_variant S288C 863C>G LIRI-JP 1 244217950 244217950 single base substitution A G missense_variant S292G 874A>G LIRI-JP 1 244218790 244218790 single base substitution A T 3_prime_UTR_variant LUSC-KR 1 244211844 244211844 single base substitution G A upstream_gene_variant LUSC-KR 1 244212173 244212173 single base substitution A G upstream_gene_variant LUSC-KR 1 244220341 244220341 single base substitution T G 3_prime_UTR_variant LUSC-US 1 244217443 244217443 single base substitution A G missense_variant K123E 367A>G LUSC-US 1 244218085 244218085 single base substitution C T missense_variant R337W 1009C>T LUSC-US 1 244218145 244218145 single base substitution G T stop_gained E357* 1069G>T LUSC-US 1 244218431 244218431 single base substitution G A missense_variant C452Y 1355G>A LUSC-US 1 244218490 244218490 single base substitution G T stop_gained E472* 1414G>T LUSC-US 1 244218625 244218625 single base substitution G A missense_variant V517I 1549G>A MALY-DE 1 244211372 244211372 single base substitution A C upstream_gene_variant MALY-DE 1 244213672 244213672 single base substitution C T upstream_gene_variant MALY-DE 1 244214284 244214284 single base substitution T A upstream_gene_variant MALY-DE 1 244223799 244223799 insertion of <=200bp - T downstream_gene_variant MALY-DE 1 244223929 244223929 deletion of <=200bp A - downstream_gene_variant MELA-AU 1 244209613 244209613 single base substitution G A upstream_gene_variant MELA-AU 1 244210111 244210111 single base substitution G A upstream_gene_variant MELA-AU 1 244210202 244210202 single base substitution G A upstream_gene_variant MELA-AU 1 244211095 244211095 single base substitution C T upstream_gene_variant MELA-AU 1 244211782 244211782 single base substitution C T upstream_gene_variant MELA-AU 1 244213111 244213111 single base substitution T C upstream_gene_variant MELA-AU 1 244216457 244216457 single base substitution C T intron_variant MELA-AU 1 244216681 244216681 single base substitution C T intron_variant MELA-AU 1 244216850 244216850 single base substitution G A intron_variant MELA-AU 1 244217077 244217077 single base substitution C T intron_variant MELA-AU 1 244217084 244217084 single base substitution C T intron_variant MELA-AU 1 244217210 244217210 single base substitution G C missense_variant R45P 134G>C MELA-AU 1 244218265 244218265 single base substitution C T missense_variant H397Y 1189C>T MELA-AU 1 244218324 244218324 single base substitution C T synonymous_variant V416V 1248C>T MELA-AU 1 244218853 244218853 single base substitution C T 3_prime_UTR_variant MELA-AU 1 244219046 244219046 single base substitution A G 3_prime_UTR_variant MELA-AU 1 244220310 244220310 single base substitution G A 3_prime_UTR_variant MELA-AU 1 244220620 244220620 single base substitution T C 3_prime_UTR_variant MELA-AU 1 244221258 244221258 single base substitution C T downstream_gene_variant MELA-AU 1 244221300 244221300 single base substitution G A downstream_gene_variant MELA-AU 1 244221702 244221702 single base substitution G A downstream_gene_variant MELA-AU 1 244221724 244221724 single base substitution C T downstream_gene_variant MELA-AU 1 244221803 244221803 single base substitution C T downstream_gene_variant MELA-AU 1 244222093 244222093 single base substitution G T downstream_gene_variant MELA-AU 1 244222392 244222392 single base substitution C T downstream_gene_variant MELA-AU 1 244222702 244222702 single base substitution T C downstream_gene_variant MELA-AU 1 244223182 244223182 single base substitution G C downstream_gene_variant MELA-AU 1 244223201 244223201 single base substitution C T downstream_gene_variant MELA-AU 1 244224372 244224372 single base substitution G A downstream_gene_variant MELA-AU 1 244224498 244224498 single base substitution G A downstream_gene_variant MELA-AU 1 244224563 244224563 single base substitution C T downstream_gene_variant MELA-AU 1 244224632 244224632 single base substitution C T downstream_gene_variant MELA-AU 1 244224660 244224660 single base substitution G A downstream_gene_variant MELA-AU 1 244224739 244224739 single base substitution C T downstream_gene_variant MELA-AU 1 244225249 244225249 single base substitution G A downstream_gene_variant MELA-AU 1 244225720 244225720 single base substitution G A downstream_gene_variant OV-AU 1 244213887 244213887 single base substitution G C upstream_gene_variant OV-AU 1 244214669 244214669 single base substitution T C 5_prime_UTR_variant OV-AU 1 244217911 244217911 single base substitution G T missense_variant V279L 835G>T PACA-AU 1 244213186 244213186 single base substitution G A upstream_gene_variant PACA-AU 1 244214751 244214751 single base substitution G A intron_variant PACA-AU 1 244220967 244220967 single base substitution C T downstream_gene_variant PACA-CA 1 244210107 244210107 single base substitution G A upstream_gene_variant PACA-CA 1 244211582 244211582 single base substitution C A upstream_gene_variant PACA-CA 1 244213356 244213356 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 244213702 244213702 single base substitution C A upstream_gene_variant PACA-CA 1 244214076 244214076 single base substitution A G upstream_gene_variant PAEN-IT 1 244214719 244214719 single base substitution G A 5_prime_UTR_variant PBCA-DE 1 244217248 244217253 deletion of <=200bp TTCCAC - inframe_deletion FH58 PBCA-DE 1 244217652 244217655 deletion of <=200bp GTGG - frameshift_variant MW192 PBCA-DE 1 244218364 244218364 single base substitution T A missense_variant C430S 1288T>A PBCA-DE 1 244219476 244219476 single base substitution A G 3_prime_UTR_variant PBCA-DE 1 244220397 244220400 deletion of <=200bp CAAA - 3_prime_UTR_variant PRAD-UK 1 244213531 244213531 single base substitution C G upstream_gene_variant PRAD-UK 1 244221526 244221526 single base substitution A T downstream_gene_variant READ-US 1 244217801 244217801 single base substitution C T missense_variant S242L 725C>T READ-US 1 244218531 244218531 single base substitution G A synonymous_variant T485T 1455G>A READ-US 1 244218559 244218559 single base substitution C T missense_variant R495C 1483C>T RECA-EU 1 244213908 244213908 single base substitution G C upstream_gene_variant RECA-EU 1 244214224 244214224 single base substitution G A upstream_gene_variant RECA-EU 1 244215932 244215932 single base substitution T C intron_variant RECA-EU 1 244216569 244216569 single base substitution G A intron_variant RECA-EU 1 244225552 244225552 single base substitution T G downstream_gene_variant SKCA-BR 1 244212767 244212767 single base substitution C G upstream_gene_variant SKCA-BR 1 244212773 244212773 single base substitution A G upstream_gene_variant SKCA-BR 1 244221940 244221940 single base substitution C T downstream_gene_variant SKCA-BR 1 244222393 244222393 single base substitution C T downstream_gene_variant SKCA-BR 1 244222699 244222699 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 244222833 244222833 single base substitution G A downstream_gene_variant SKCA-BR 1 244223416 244223416 single base substitution C T downstream_gene_variant SKCM-US 1 244217611 244217611 single base substitution C T synonymous_variant L179L 535C>T SKCM-US 1 244217908 244217908 single base substitution C T synonymous_variant L278L 832C>T SKCM-US 1 244218069 244218069 single base substitution C T synonymous_variant V331V 993C>T SKCM-US 1 244218166 244218166 single base substitution C T synonymous_variant L364L 1090C>T SKCM-US 1 244218220 244218220 single base substitution C T missense_variant P382S 1144C>T SKCM-US 1 244218222 244218222 single base substitution C T synonymous_variant P382P 1146C>T SKCM-US 1 244218280 244218280 single base substitution T C missense_variant F402L 1204T>C STAD-US 1 244217371 244217371 single base substitution A G missense_variant K99E 295A>G STAD-US 1 244217659 244217659 single base substitution C T stop_gained R195* 583C>T STAD-US 1 244217801 244217801 single base substitution C T missense_variant S242L 725C>T STAD-US 1 244217906 244217906 single base substitution A T missense_variant N277I 830A>T STAD-US 1 244218042 244218042 single base substitution T A missense_variant H322Q 966T>A STAD-US 1 244218133 244218133 single base substitution C T missense_variant R353C 1057C>T STAD-US 1 244218334 244218334 single base substitution A G missense_variant T420A 1258A>G STAD-US 1 244218475 244218475 single base substitution G A missense_variant V467M 1399G>A STAD-US 1 244218598 244218598 single base substitution A G missense_variant K508E 1522A>G THCA-SA 1 244218402 244218402 single base substitution G A synonymous_variant S442S 1326G>A UCEC-US 1 244217379 244217379 single base substitution G A synonymous_variant L101L 303G>A UCEC-US 1 244217424 244217424 single base substitution T C synonymous_variant Y116Y 348T>C UCEC-US 1 244217563 244217563 single base substitution G A missense_variant D163N 487G>A UCEC-US 1 244217614 244217614 single base substitution C T missense_variant P180S 538C>T UCEC-US 1 244217659 244217659 single base substitution C T stop_gained R195* 583C>T UCEC-US 1 244217715 244217715 single base substitution C T synonymous_variant H213H 639C>T UCEC-US 1 244217802 244217802 single base substitution G A synonymous_variant S242S 726G>A UCEC-US 1 244218009 244218009 single base substitution C T synonymous_variant S311S 933C>T UCEC-US 1 244218356 244218356 single base substitution C T missense_variant T427I 1280C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FU-A2QG-01 COSM4849101 c.265G>C p.E89Q Substitution - Missense 1:244054039-244054039 + 8031121 COSM3385972 c.13+5G>A p.? Unknown 1:244051449-244051449 + ME048T COSM229670 c.143G>A p.R48Q Substitution - Missense 1:244053917-244053917 + 1N30-VS-1T30 COSM4973982 c.996G>A p.L332L Substitution - coding silent 1:244054770-244054770 + 1N53-VS-1T53 COSM2051172 c.1425C>T p.H475H Substitution - coding silent 1:244055199-244055199 + PR-00-1165 COSM248536 c.1239C>T p.A413A Substitution - coding silent 1:244055013-244055013 + ESO-S41 COSM1271181 c.493C>T p.P165S Substitution - Missense 1:244054267-244054267 + AOCS-145-1-6 COSM3943770 c.835G>T p.V279L Substitution - Missense 1:244054609-244054609 + ICGC_MB83 COSM3764166 c.1288T>A p.C430S Substitution - Missense 1:244055062-244055062 + TCGA-66-2770-01 COSM1646119 c.1355G>A p.C452Y Substitution - Missense 1:244055129-244055129 + XHDG35 COSM4769495 c.1441G>A p.E481K Substitution - Missense 1:244055215-244055215 + EV003-R6 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + ESCC_152 COSM5645327 c.904G>A p.E302K Substitution - Missense 1:244054678-244054678 + EV003-R9 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + YURAY COSM5380297 c.245C>T p.P82L Substitution - Missense 1:244054019-244054019 + 1604875 COSM140979 c.190G>A p.D64N Substitution - Missense 1:244053964-244053964 + CHC793T COSM4951128 c.326_335del10 p.A109fs*15 Deletion - Frameshift 1:244054100-244054109 + 6115242 COSM2051168 c.1371G>A p.Q457Q Substitution - coding silent 1:244055145-244055145 + TCGA-FD-A3SN-01 COSM3789751 c.1458G>A p.Q486Q Substitution - coding silent 1:244055232-244055232 + TCGA-D1-A103-01 COSM906647 c.1280C>T p.T427I Substitution - Missense 1:244055054-244055054 + TCGA-LP-A5U3-01 COSM4850209 c.316G>T p.V106L Substitution - Missense 1:244054090-244054090 + TCGA-BR-6452-01 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + CHC322T COSM3746886 c.586T>G p.L196V Substitution - Missense 1:244054360-244054360 + EV003-R9 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + RMS77_ COSM4988500 c.575T>C p.M192T Substitution - Missense 1:244054349-244054349 + T3225 COSM4743301 c.1377G>A p.S459S Substitution - coding silent 1:244055151-244055151 + CSCC-38-T COSM4553023 c.578G>A p.W193* Substitution - Nonsense 1:244054352-244054352 + TCGA-FD-A3SN-01 COSM3789752 c.1458G>A p.Q486Q Substitution - coding silent 1:244055232-244055232 + TCGA-BR-8680-01 COSM3418995 c.725C>T p.S242L Substitution - Missense 1:244054499-244054499 + EV003-R2 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + TCGA-EE-A2GC-06 COSM3486347 c.1144C>T p.P382S Substitution - Missense 1:244054918-244054918 + 424 COSM4432582 c.450C>T p.V150V Substitution - coding silent 1:244054224-244054224 + CRC-06T COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-DD-A4NO-01 COSM4912939 c.1299C>A p.T433T Substitution - coding silent 1:244055073-244055073 + EV003-R5 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + TCGA-EE-A29E-06 COSM3486345 c.1090C>T p.L364L Substitution - coding silent 1:244054864-244054864 + I2L-P27-Tumor-Biopsy COSM5353381 c.1461C>T p.S487S Substitution - coding silent 1:244055235-244055235 + TCGA-39-5016-01 COSM1646117 c.1549G>A p.V517I Substitution - Missense 1:244055323-244055323 + RK256_C01 COSM4945756 c.863C>G p.S288C Substitution - Missense 1:244054637-244054637 + Pa10X COSM83982 c.1392C>T p.R464R Substitution - coding silent 1:244055166-244055166 + TCGA-AP-A0LM-01 COSM1584300 c.487G>A p.D163N Substitution - Missense 1:244054261-244054261 + TCGA-BF-A1PX-01 COSM4900433 c.832C>T p.L278L Substitution - coding silent 1:244054606-244054606 + PD8964a COSM5782262 c.1038G>A p.M346I Substitution - Missense 1:244054812-244054812 + TCGA-D1-A103-01 COSM906644 c.639C>T p.H213H Substitution - coding silent 1:244054413-244054413 + T578 COSM4743303 c.1414G>A p.E472K Substitution - Missense 1:244055188-244055188 + TCGA-66-2770-01 COSM679603 c.1355G>A p.C452Y Substitution - Missense 1:244055129-244055129 + YURAY COSM5380298 c.804C>T p.F268F Substitution - coding silent 1:244054578-244054578 + TCGA-HU-8602-01 COSM4030313 c.1057C>T p.R353C Substitution - Missense 1:244054831-244054831 + LUAD-CHTN-Z4716A COSM361458 c.875G>A p.S292N Substitution - Missense 1:244054649-244054649 + TCGA-09-1665-01 COSM69112 c.90_94delTTTTC p.F31fs*2 Deletion - Frameshift 1:244053864-244053868 + TCGA-EI-6917-01 COSM3418996 c.1455G>A p.T485T Substitution - coding silent 1:244055229-244055229 + I2L-P27-Tumor-Biopsy COSM5353382 c.1461C>T p.S487S Substitution - coding silent 1:244055235-244055235 + TCGA-HT-7687-01 COSM3966420 c.1439G>A p.C480Y Substitution - Missense 1:244055213-244055213 + TCGA-BR-6452-01 COSM4030310 c.830A>T p.N277I Substitution - Missense 1:244054604-244054604 + PD4203a COSM165778 c.217C>T p.H73Y Substitution - Missense 1:244053991-244053991 + TCGA-LP-A5U3-01 COSM4850208 c.316G>T p.V106L Substitution - Missense 1:244054090-244054090 + ccRCC-56 COSM1659511 c.1243delG p.D415fs*48 Deletion - Frameshift 1:244055017-244055017 + TCGA-BR-8680-01 COSM3418994 c.725C>T p.S242L Substitution - Missense 1:244054499-244054499 + EV003-R1 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + RKO COSM4647611 c.948A>G p.V316V Substitution - coding silent 1:244054722-244054722 + TCGA-K7-A5RG-01 COSM4930071 c.564G>T p.E188D Substitution - Missense 1:244054338-244054338 + ESCC_BICR_041T COSM5441213 c.1570G>C p.D524H Substitution - Missense 1:244055344-244055344 + pfg034T COSM4764945 c.136G>A p.A46T Substitution - Missense 1:244053910-244053910 + CSCC-16-T COSM4559659 c.813G>A p.Q271Q Substitution - coding silent 1:244054587-244054587 + 4 COSM4333316 c.424G>A p.D142N Substitution - Missense 1:244054198-244054198 + HCT-116 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-EI-6917-01 COSM3418997 c.1455G>A p.T485T Substitution - coding silent 1:244055229-244055229 + TCGA-EE-A3JD-06 COSM4395000 c.1204T>C p.F402L Substitution - Missense 1:244054978-244054978 + 4 COSM4333315 c.424G>A p.D142N Substitution - Missense 1:244054198-244054198 + TCGA-K7-A5RG-01 COSM4930072 c.564G>T p.E188D Substitution - Missense 1:244054338-244054338 + TCGA-BR-7707-01 COSM4030317 c.1399G>A p.V467M Substitution - Missense 1:244055173-244055173 + TCGA-D1-A103-01 COSM1584296 c.1280C>T p.T427I Substitution - Missense 1:244055054-244055054 + BN49 COSM1602019 c.1276A>C p.K426Q Substitution - Missense 1:244055050-244055050 + TCGA-B2-4099-01 COSM1645661 c.1262G>T p.C421F Substitution - Missense 1:244055036-244055036 + S02299 COSM5689893 c.466G>T p.G156C Substitution - Missense 1:244054240-244054240 + HCC78T COSM1602017 c.465T>A p.D155E Substitution - Missense 1:244054239-244054239 + ESO-S41 COSM1271182 c.493C>T p.P165S Substitution - Missense 1:244054267-244054267 + TCGA-A2-A04R-01 COSM5192994 c.1440C>T p.C480C Substitution - coding silent 1:244055214-244055214 + PDA_009 COSM4998363 c.1349C>A p.T450N Substitution - Missense 1:244055123-244055123 + HCC78 COSM1602017 c.465T>A p.D155E Substitution - Missense 1:244054239-244054239 + TCGA-A8-A09G-01 COSM425800 c.512G>C p.G171A Substitution - Missense 1:244054286-244054286 + EV003-R4 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + SJOS017_D COSM5024289 c.1266G>A p.S422S Substitution - coding silent 1:244055040-244055040 + EV003-R3 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + AOCS-145-1-6 COSM3943771 c.835G>T p.V279L Substitution - Missense 1:244054609-244054609 + EV003-R6 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + 1N30-VS-1T30 COSM4973981 c.996G>A p.L332L Substitution - coding silent 1:244054770-244054770 + T3064 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + RK256_C01 COSM4945757 c.863C>G p.S288C Substitution - Missense 1:244054637-244054637 + ESCC-069T COSM3934606 c.1376C>T p.S459L Substitution - Missense 1:244055150-244055150 + HCC78 COSM1602018 c.465T>A p.D155E Substitution - Missense 1:244054239-244054239 + TCGA-HU-A4GN-01 COSM4030316 c.1258A>G p.T420A Substitution - Missense 1:244055032-244055032 + TCGA-BH-A0BR-01 COSM425802 c.1185G>A p.Q395Q Substitution - coding silent 1:244054959-244054959 + RKO COSM4647610 c.948A>G p.V316V Substitution - coding silent 1:244054722-244054722 + S0029 COSM5881692 c.1582G>A p.E528K Substitution - Missense 1:244055356-244055356 + BN49 COSM1602020 c.1276A>C p.K426Q Substitution - Missense 1:244055050-244055050 + EV003-R7 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + PDA_009 COSM4998362 c.1349C>A p.T450N Substitution - Missense 1:244055123-244055123 + 587238 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-BR-6452-01 COSM4030309 c.830A>T p.N277I Substitution - Missense 1:244054604-244054604 + TCGA-D1-A103-01 COSM1584299 c.639C>T p.H213H Substitution - coding silent 1:244054413-244054413 + 445 COSM4434862 c.871G>C p.E291Q Substitution - Missense 1:244054645-244054645 + TCGA-D3-A3MR-06 COSM3486348 c.1146C>T p.P382P Substitution - coding silent 1:244054920-244054920 + TCGA-CG-5721-01 COSM4030312 c.966T>A p.H322Q Substitution - Missense 1:244054740-244054740 + TCGA-AD-6964-01 COSM210652 c.487G>A p.D163N Substitution - Missense 1:244054261-244054261 + 587284 COSM1233744 c.1295A>G p.Y432C Substitution - Missense 1:244055069-244055069 + TCGA-EE-A182-06 COSM3486341 c.535C>T p.L179L Substitution - coding silent 1:244054309-244054309 + CSCC-11-T COSM4480645 c.243C>T p.A81A Substitution - coding silent 1:244054017-244054017 + 8031121 COSM3385971 c.13+5G>A p.? Unknown 1:244051449-244051449 + 424 COSM4432583 c.450C>T p.V150V Substitution - coding silent 1:244054224-244054224 + TCGA-18-3408-01 COSM1646118 c.1414G>T p.E472* Substitution - Nonsense 1:244055188-244055188 + BN49T COSM1602020 c.1276A>C p.K426Q Substitution - Missense 1:244055050-244055050 + TCGA-AA-3510-01 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + 255 COSM3732007 c.247G>A p.A83T Substitution - Missense 1:244054021-244054021 + XHDG35 COSM4769496 c.1441G>A p.E481K Substitution - Missense 1:244055215-244055215 + TCGA-B5-A11G-01 COSM906642 c.348T>C p.Y116Y Substitution - coding silent 1:244054122-244054122 + TCGA-DS-A0VM-01 COSM459514 c.549G>A p.R183R Substitution - coding silent 1:244054323-244054323 + CHC793T COSM4951127 c.326_335del10 p.A109fs*15 Deletion - Frameshift 1:244054100-244054109 + ATL012 COSM5705360 c.299A>G p.D100G Substitution - Missense 1:244054073-244054073 + YURAY COSM5380296 c.245C>T p.P82L Substitution - Missense 1:244054019-244054019 + TCGA-B6-A0IB-01 COSM5213038 c.985G>T p.D329Y Substitution - Missense 1:244054759-244054759 + CSCC-11-T COSM4555394 c.652G>A p.G218R Substitution - Missense 1:244054426-244054426 + ATL012 COSM5705361 c.299A>G p.D100G Substitution - Missense 1:244054073-244054073 + TCGA-AN-A0AK-01 COSM5205779 c.918_921delGAAA p.E308fs*2 Deletion - Frameshift 1:244054692-244054695 + TCGA-B6-A0IB-01 COSM425801 c.985G>T p.D329Y Substitution - Missense 1:244054759-244054759 + TCGA-A2-A04R-01 COSM425803 c.1440C>T p.C480C Substitution - coding silent 1:244055214-244055214 + TCGA-EI-6917-01 COSM3418998 c.1483C>T p.R495C Substitution - Missense 1:244055257-244055257 + TCGA-AY-6197-01 COSM1340781 c.1156A>G p.K386E Substitution - Missense 1:244054930-244054930 + EV003-R5 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + ESO-408 COSM1271179 c.220C>A p.L74M Substitution - Missense 1:244053994-244053994 + TCGA-25-2400-01 COSM117782 c.1444C>T p.R482C Substitution - Missense 1:244055218-244055218 + TCGA-B5-A11G-01 COSM1584301 c.348T>C p.Y116Y Substitution - coding silent 1:244054122-244054122 + TCGA-AX-A0J1-01 COSM906640 c.303G>A p.L101L Substitution - coding silent 1:244054077-244054077 + Pa37X COSM83981 c.916G>C p.V306L Substitution - Missense 1:244054690-244054690 + TCGA-D3-A3MR-06 COSM3486349 c.1146C>T p.P382P Substitution - coding silent 1:244054920-244054920 + TCGA-18-3408-01 COSM679602 c.1414G>T p.E472* Substitution - Nonsense 1:244055188-244055188 + 255 COSM3732008 c.247G>A p.A83T Substitution - Missense 1:244054021-244054021 + ESCC_152 COSM5645328 c.904G>A p.E302K Substitution - Missense 1:244054678-244054678 + 587238 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + YUKLAB COSM1690066 c.1243G>A p.D415N Substitution - Missense 1:244055017-244055017 + TCGA-22-5474-01 COSM679605 c.1069G>T p.E357* Substitution - Nonsense 1:244054843-244054843 + 445 COSM4434861 c.871G>C p.E291Q Substitution - Missense 1:244054645-244054645 + EV003-R1 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + TCGA-AP-A056-01 COSM906646 c.933C>T p.S311S Substitution - coding silent 1:244054707-244054707 + TCGA-AX-A0J1-01 COSM1584302 c.303G>A p.L101L Substitution - coding silent 1:244054077-244054077 + TCGA-25-2392-01 COSM73406 c.1195A>T p.S399C Substitution - Missense 1:244054969-244054969 + TCGA-AP-A056-01 COSM1584297 c.933C>T p.S311S Substitution - coding silent 1:244054707-244054707 + TCGA-AN-A0AK-01 COSM5205780 c.918_921delGAAA p.E308fs*2 Deletion - Frameshift 1:244054692-244054695 + TCGA-B2-4099-01 COSM464253 c.1262G>T p.C421F Substitution - Missense 1:244055036-244055036 + S02299 COSM5689894 c.466G>T p.G156C Substitution - Missense 1:244054240-244054240 + I2L-P27-Tumor-Organoid COSM5353382 c.1461C>T p.S487S Substitution - coding silent 1:244055235-244055235 + CHC793T COSM4951128 c.326_335del10 p.A109fs*15 Deletion - Frameshift 1:244054100-244054109 + EV003-R3 COSM4410631 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + TCGA-D3-A3C3-06 COSM3486342 c.993C>T p.V331V Substitution - coding silent 1:244054767-244054767 + SWE-47 COSM1180106 c.1A>T p.M1L Substitution - Missense 1:244051432-244051432 + TCGA-DD-A4NO-01 COSM4912940 c.1299C>A p.T433T Substitution - coding silent 1:244055073-244055073 + ESO-408 COSM1271180 c.220C>A p.L74M Substitution - Missense 1:244053994-244053994 + TCGA-FU-A2QG-01 COSM4849100 c.265G>C p.E89Q Substitution - Missense 1:244054039-244054039 + CSCC-16-T COSM4559658 c.813G>A p.Q271Q Substitution - coding silent 1:244054587-244054587 + TCGA-EE-A3JD-06 COSM4394999 c.1204T>C p.F402L Substitution - Missense 1:244054978-244054978 + STC263 COSM5053302 c.432A>C p.S144S Substitution - coding silent 1:244054206-244054206 + TCGA-13-1512-01 COSM73405 c.817G>A p.V273M Substitution - Missense 1:244054591-244054591 + TCGA-DK-A1AC-01 COSM1296102 c.1496G>C p.C499S Substitution - Missense 1:244055270-244055270 + TCGA-DK-A1AC-01 COSM1296103 c.1496G>C p.C499S Substitution - Missense 1:244055270-244055270 + TCGA-A5-A0GA-01 COSM906643 c.538C>T p.P180S Substitution - Missense 1:244054312-244054312 + TCGA-33-4533-01 COSM1646121 c.1009C>T p.R337W Substitution - Missense 1:244054783-244054783 + YUKLAB COSM1690065 c.1243G>A p.D415N Substitution - Missense 1:244055017-244055017 + TCGA-BR-6452-01 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-F5-6814-01 COSM3418994 c.725C>T p.S242L Substitution - Missense 1:244054499-244054499 + CHC793T COSM4951127 c.326_335del10 p.A109fs*15 Deletion - Frameshift 1:244054100-244054109 + CSCC-11-T COSM4555395 c.652G>A p.G218R Substitution - Missense 1:244054426-244054426 + EV003-R4 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + T3064 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-33-4533-01 COSM679606 c.1009C>T p.R337W Substitution - Missense 1:244054783-244054783 + ESCC_BICR_041T COSM5441212 c.1570G>C p.D524H Substitution - Missense 1:244055344-244055344 + TCGA-HU-A4GN-01 COSM4030315 c.1258A>G p.T420A Substitution - Missense 1:244055032-244055032 + pfg034T COSM4764946 c.136G>A p.A46T Substitution - Missense 1:244053910-244053910 + TCGA-EE-A29E-06 COSM3486344 c.1090C>T p.L364L Substitution - coding silent 1:244054864-244054864 + CRC-02T COSM5454125 c.210C>T p.D70D Substitution - coding silent 1:244053984-244053984 + CSCC-44-T COSM4459717 c.1137C>T p.F379F Substitution - coding silent 1:244054911-244054911 + TCGA-39-5016-01 COSM679601 c.1549G>A p.V517I Substitution - Missense 1:244055323-244055323 + TCGA-HU-8602-01 COSM4030314 c.1057C>T p.R353C Substitution - Missense 1:244054831-244054831 + TCGA-EE-A2GC-06 COSM3486346 c.1144C>T p.P382S Substitution - Missense 1:244054918-244054918 + BD72T COSM5511670 c.228C>T p.S76S Substitution - coding silent 1:244054002-244054002 + pfg034T COSM4764948 c.137C>A p.A46E Substitution - Missense 1:244053911-244053911 + TCGA-AY-6197-01 COSM1340782 c.1156A>G p.K386E Substitution - Missense 1:244054930-244054930 + CSCC-44-T COSM4459718 c.1137C>T p.F379F Substitution - coding silent 1:244054911-244054911 + RMS77_ COSM4988501 c.575T>C p.M192T Substitution - Missense 1:244054349-244054349 + Pat_06_A COSM5846036 c.1445G>A p.R482H Substitution - Missense 1:244055219-244055219 + TCGA-BR-7707-01 COSM4030307 c.295A>G p.K99E Substitution - Missense 1:244054069-244054069 + TCGA-DS-A0VM-01 COSM459515 c.418G>A p.E140K Substitution - Missense 1:244054192-244054192 + TCGA-BR-4184-01 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + OV207 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-BF-A1PX-01 COSM4900432 c.832C>T p.L278L Substitution - coding silent 1:244054606-244054606 + TCGA-A8-A09G-01 COSM1473718 c.512G>C p.G171A Substitution - Missense 1:244054286-244054286 + 2334199 COSM324446 c.1273G>C p.G425R Substitution - Missense 1:244055047-244055047 + TCGA-HT-7687-01 COSM3966419 c.1439G>A p.C480Y Substitution - Missense 1:244055213-244055213 + BD72T COSM5511671 c.228C>T p.S76S Substitution - coding silent 1:244054002-244054002 + 587284 COSM1233745 c.1295A>G p.Y432C Substitution - Missense 1:244055069-244055069 + TCGA-DD-A1EL-01 COSM4925814 c.1358G>T p.G453V Substitution - Missense 1:244055132-244055132 + TCGA-BH-A0BR-01 COSM1473719 c.1185G>A p.Q395Q Substitution - coding silent 1:244054959-244054959 + PD8964a COSM5782263 c.1038G>A p.M346I Substitution - Missense 1:244054812-244054812 + TCGA-EI-6917-01 COSM3418999 c.1483C>T p.R495C Substitution - Missense 1:244055257-244055257 + CSCC-38-T COSM4553024 c.578G>A p.W193* Substitution - Nonsense 1:244054352-244054352 + ESCC-069T COSM3934605 c.1376C>T p.S459L Substitution - Missense 1:244055150-244055150 + TCGA-BR-7707-01 COSM4030318 c.1399G>A p.V467M Substitution - Missense 1:244055173-244055173 + TCGA-AP-A0LM-01 COSM210652 c.487G>A p.D163N Substitution - Missense 1:244054261-244054261 + TCGA-BR-4184-01 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-F5-6814-01 COSM3418995 c.725C>T p.S242L Substitution - Missense 1:244054499-244054499 + CHC322T COSM3746887 c.586T>G p.L196V Substitution - Missense 1:244054360-244054360 + S0029 COSM5881691 c.1582G>A p.E528K Substitution - Missense 1:244055356-244055356 + CRC-06T COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + BN49T COSM1602019 c.1276A>C p.K426Q Substitution - Missense 1:244055050-244055050 + TCGA-22-5474-01 COSM1646120 c.1069G>T p.E357* Substitution - Nonsense 1:244054843-244054843 + TCGA-BR-7707-01 COSM4030308 c.295A>G p.K99E Substitution - Missense 1:244054069-244054069 + I2L-P27-Tumor-Organoid COSM5353381 c.1461C>T p.S487S Substitution - coding silent 1:244055235-244055235 + STC263 COSM5053301 c.432A>C p.S144S Substitution - coding silent 1:244054206-244054206 + TCGA-EE-A182-06 COSM3486340 c.535C>T p.L179L Substitution - coding silent 1:244054309-244054309 + EV003-R2 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + HCC78T COSM1602018 c.465T>A p.D155E Substitution - Missense 1:244054239-244054239 + TCGA-GF-A6C9-06 COSM4900433 c.832C>T p.L278L Substitution - coding silent 1:244054606-244054606 + TCGA-DD-A1EL-01 COSM4925813 c.1358G>T p.G453V Substitution - Missense 1:244055132-244055132 + 1N53-VS-1T53 COSM2051173 c.1425C>T p.H475H Substitution - coding silent 1:244055199-244055199 + TCGA-21-5786-01 COSM1646122 c.367A>G p.K123E Substitution - Missense 1:244054141-244054141 + HCT116 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + 6115242 COSM2051167 c.1371G>A p.Q457Q Substitution - coding silent 1:244055145-244055145 + T3225 COSM4743300 c.1377G>A p.S459S Substitution - coding silent 1:244055151-244055151 + SJOS017_D COSM5024288 c.1266G>A p.S422S Substitution - coding silent 1:244055040-244055040 + TCGA-AP-A056-01 COSM1584298 c.726G>A p.S242S Substitution - coding silent 1:244054500-244054500 + TCGA-CG-5728-01 COSM4030320 c.1522A>G p.K508E Substitution - Missense 1:244055296-244055296 + HN_62421 COSM126347 c.121G>A p.D41N Substitution - Missense 1:244053895-244053895 + TCGA-D1-A17A-01 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + T578 COSM4743302 c.1414G>A p.E472K Substitution - Missense 1:244055188-244055188 + YURAY COSM5380299 c.804C>T p.F268F Substitution - coding silent 1:244054578-244054578 + TCGA-CG-5721-01 COSM4030311 c.966T>A p.H322Q Substitution - Missense 1:244054740-244054740 + CSCC-11-T COSM4480644 c.243C>T p.A81A Substitution - coding silent 1:244054017-244054017 + TCGA-AP-A056-01 COSM906645 c.726G>A p.S242S Substitution - coding silent 1:244054500-244054500 + pfg034T COSM4764947 c.137C>A p.A46E Substitution - Missense 1:244053911-244053911 + TCGA-GF-A6C9-06 COSM4900432 c.832C>T p.L278L Substitution - coding silent 1:244054606-244054606 + CRC-02T COSM5454124 c.210C>T p.D70D Substitution - coding silent 1:244053984-244053984 + Pat_06_A COSM5846037 c.1445G>A p.R482H Substitution - Missense 1:244055219-244055219 + EV003-R7 COSM4410632 c.548G>A p.R183K Substitution - Missense 1:244054322-244054322 + TCGA-AD-6964-01 COSM1584300 c.487G>A p.D163N Substitution - Missense 1:244054261-244054261 + ICGC_MB83 COSM3764165 c.1288T>A p.C430S Substitution - Missense 1:244055062-244055062 + HCT-116 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-AA-3510-01 COSM1233743 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + TCGA-21-5786-01 COSM679608 c.367A>G p.K123E Substitution - Missense 1:244054141-244054141 + TCGA-CG-5728-01 COSM4030319 c.1522A>G p.K508E Substitution - Missense 1:244055296-244055296 + HCT116 COSM252930 c.583C>T p.R195* Substitution - Nonsense 1:244054357-244054357 + ccRCC-56 COSM1659512 c.1243delG p.D415fs*48 Deletion - Frameshift 1:244055017-244055017 + TCGA-D3-A3C3-06 COSM3486343 c.993C>T p.V331V Substitution - coding silent 1:244054767-244054767 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.69997 1q44-qter 608433

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.R17Kfs*18 c.49dupA 1 244217125 HNSC A G 3-UTRSNV . c.1593+807A>G 1 244219476 MB AG - Frameshift p.R27Tfs*7 c.80_81delGA 1 244217153 LGG A G Missense p.K123E c.367A>G 1 244217443 LUSC A G Missense p.K508E c.1522A>G 1 244218598 STAD A T Missense p.E188V c.563A>T 1 244217639 LUAD A T Missense p.S399C c.1195A>T 1 244218271 OV C A Missense p.L74M c.220C>A 1 244217296 ESCA CC TT Missense p.Q43* c.126_127delinsTT 1 244217202 CM C G Missense p.P13A c.37C>G 1 244217113 HNSC C T Missense p.H73Y c.217C>T 1 244217293 BRCA C T Missense p.P165S c.493C>T 1 244217569 ESCA C T Missense p.P180S c.538C>T 1 244217614 UCEC C T Missense p.P382S c.1144C>T 1 244218220 CM C T Missense p.P389S c.1165C>T 1 244218241 CM C T Missense p.R337W c.1009C>T 1 244218085 LUSC C T Missense p.R482C c.1444C>T 1 244218520 OV C T Missense p.S154F c.461C>T 1 244217537 CM C T Nonsense p.R195* c.583C>T 1 244217659 HNSC C T Nonsense p.R195* c.583C>T 1 244217659 UCEC C T Synonymous p.C480C c.1440C>T 1 244218516 BRCA C T Synonymous p.F402F c.1206C>T 1 244218282 CM C T Synonymous p.L179L c.535C>T 1 244217611 CM C T Synonymous p.L278L c.832C>T 1 244217908 CM C T Synonymous p.P382P c.1146C>T 1 244218222 CM C T Synonymous p.R464R c.1392C>T 1 244218468 PAAD C T Synonymous p.V331V c.993C>T 1 244218069 CM C T Synonymous p.Y432Y c.1296C>T 1 244218372 HNSC G A Missense p.C452Y c.1355G>A 1 244218431 LUSC G A Missense p.C480Y c.1439G>A 1 244218515 LGG G A Missense p.D41N c.121G>A 1 244217197 HNSC G A Missense p.R48Q c.143G>A 1 244217219 CM G A Missense p.V273M c.817G>A 1 244217893 OV G A Missense p.V517I c.1549G>A 1 244218625 LUSC G A Synonymous p.L514L c.1542G>A 1 244218618 LUAD G A Synonymous p.Q395Q c.1185G>A 1 244218261 BRCA G C Missense p.G425R c.1273G>C 1 244218349 SCLC G C Missense p.V306L c.916G>C 1 244217992 PAAD G T Missense p.A83S c.247G>T 1 244217323 LUAD G T Missense p.C421F c.1262G>T 1 244218338 RCCC G T Missense p.D329Y c.985G>T 1 244218061 BRCA G T Missense p.E319D c.957G>T 1 244218033 LUAD G T Missense p.G443V c.1328G>T 1 244218404 LUAD G T Nonsense p.E188* c.562G>T 1 244217638 LUAD G T Nonsense p.E357* c.1069G>T 1 244218145 LUSC G T Nonsense p.E472* c.1414G>T 1 244218490 LUSC T A Missense p.C430S c.1288T>A 1 244218364 MB T C Missense p.F402L c.1204T>C 1 244218280 CM T C Synonymous p.Y116Y c.348T>C 1 244217424 UCEC TTTTC - Frameshift p.F31Lfs*2 c.93_97delTCTTT 1 244217166 OV