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 2 239059485 239059485 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr2:239059485G>A c.1516G>A c.(1516-1518)Ggc>Agc p.G506S ACC 2 239059526 239059526 + Silent SNP C C T TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr2:239059526C>T c.1557C>T c.(1555-1557)ggC>ggT p.G519G BLCA 2 239049543 239049543 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr2:239049543C>A c.148C>A c.(148-150)Ctc>Atc p.L50I BLCA 2 239054468 239054468 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr2:239054468T>C c.1145T>C c.(1144-1146)aTc>aCc p.I382T BLCA 2 239059481 239059481 + Missense_Mutation SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:239059481G>C c.1512G>C c.(1510-1512)gaG>gaC p.E504D BRCA 2 239049614 239049614 + Silent SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 g.chr2:239049614C>T c.219C>T c.(217-219)cgC>cgT p.R73R BRCA 2 239057647 239057647 + Splice_Site SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr2:239057647G>A c.e7-1 BRCA 2 239057685 239057685 + Missense_Mutation SNP G G T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 g.chr2:239057685G>T c.1377G>T c.(1375-1377)aaG>aaT p.K459N BRCA 2 239059479 239059479 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr2:239059479G>A c.1510G>A c.(1510-1512)Gag>Aag p.E504K COAD 2 239049468 239049468 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:239049468C>T c.73C>T c.(73-75)Cgc>Tgc p.R25C COAD 2 239049488 239049488 + Missense_Mutation SNP G G C TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr2:239049488G>C c.93G>C c.(91-93)aaG>aaC p.K31N COAD 2 239049613 239049613 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:239049613G>A c.218G>A c.(217-219)cGc>cAc p.R73H COAD 2 239049642 239049642 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:239049642G>A c.247G>A c.(247-249)Gtg>Atg p.V83M COAD 2 239057669 239057669 + Missense_Mutation SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr2:239057669C>T c.1361C>T c.(1360-1362)tCg>tTg p.S454L COAD 2 239057773 239057773 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:239057773G>A c.1465G>A c.(1465-1467)Ggg>Agg p.G489R COAD 2 239059488 239059488 + Missense_Mutation SNP G G A TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr2:239059488G>A c.1519G>A c.(1519-1521)Gcg>Acg p.A507T COAD 2 239059552 239059552 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:239059552A>G c.1583A>G c.(1582-1584)gAc>gGc p.D528G COAD 2 239059686 239059686 + Missense_Mutation SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:239059686G>A c.1717G>A c.(1717-1719)Ggc>Agc p.G573S COADREAD 2 239049468 239049468 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:239049468C>T c.73C>T c.(73-75)Cgc>Tgc p.R25C COADREAD 2 239049488 239049488 + Missense_Mutation SNP G G C TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr2:239049488G>C c.93G>C c.(91-93)aaG>aaC p.K31N COADREAD 2 239049613 239049613 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:239049613G>A c.218G>A c.(217-219)cGc>cAc p.R73H COADREAD 2 239049642 239049642 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:239049642G>A c.247G>A c.(247-249)Gtg>Atg p.V83M COADREAD 2 239049819 239049819 + Missense_Mutation SNP G G A TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr2:239049819G>A c.424G>A c.(424-426)Ggg>Agg p.G142R COADREAD 2 239057669 239057669 + Missense_Mutation SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr2:239057669C>T c.1361C>T c.(1360-1362)tCg>tTg p.S454L COADREAD 2 239057773 239057773 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:239057773G>A c.1465G>A c.(1465-1467)Ggg>Agg p.G489R COADREAD 2 239059488 239059488 + Missense_Mutation SNP G G A TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr2:239059488G>A c.1519G>A c.(1519-1521)Gcg>Acg p.A507T COADREAD 2 239059552 239059552 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:239059552A>G c.1583A>G c.(1582-1584)gAc>gGc p.D528G COADREAD 2 239059686 239059686 + Missense_Mutation SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:239059686G>A c.1717G>A c.(1717-1719)Ggc>Agc p.G573S DLBC 2 239049537 239049537 + Missense_Mutation SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr2:239049537C>T c.142C>T c.(142-144)Cgc>Tgc p.R48C DLBC 2 239059578 239059578 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:239059578G>A c.1609G>A c.(1609-1611)Gac>Aac p.D537N ESCA 2 239049639 239049639 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:239049639G>A c.244G>A c.(244-246)Gcc>Acc p.A82T ESCA 2 239049954 239049954 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr2:239049954C>T c.559C>T c.(559-561)Ctg>Ttg p.L187L ESCA 2 239049972 239049972 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr2:239049972G>A c.577G>A c.(577-579)Gag>Aag p.E193K ESCA 2 239054401 239054401 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:239054401G>A c.1078G>A c.(1078-1080)Gtg>Atg p.V360M ESCA 2 239054439 239054439 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr2:239054439C>T c.1116C>T c.(1114-1116)agC>agT p.S372S ESCA 2 239059686 239059686 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:239059686G>A c.1717G>A c.(1717-1719)Ggc>Agc p.G573S GBM 2 239049594 239049594 + Missense_Mutation SNP G G A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 g.chr2:239049594G>A c.199G>A c.(199-201)Gcc>Acc p.A67T GBMLGG 2 239049594 239049594 + Missense_Mutation SNP G G A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 g.chr2:239049594G>A c.199G>A c.(199-201)Gcc>Acc p.A67T GBMLGG 2 239049946 239049946 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:239049946C>T c.551C>T c.(550-552)gCc>gTc p.A184V GBMLGG 2 239050040 239050040 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr2:239050040G>A c.645G>A c.(643-645)ctG>ctA p.L215L GBMLGG 2 239051515 239051515 + Missense_Mutation SNP G G A TCGA-E1-5318-01A-01D-1468-08 TCGA-E1-5318-10A-01D-1468-08 g.chr2:239051515G>A c.850G>A c.(850-852)Gca>Aca p.A284T GBMLGG 2 239057697 239057697 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:239057697G>A c.1389G>A c.(1387-1389)tcG>tcA p.S463S GBMLGG 2 239059501 239059501 + Missense_Mutation SNP T T C TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr2:239059501T>C c.1532T>C c.(1531-1533)cTg>cCg p.L511P HNSC 2 239049729 239049729 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 g.chr2:239049729C>T c.334C>T c.(334-336)Cgc>Tgc p.R112C HNSC 2 239049882 239049882 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr2:239049882G>C c.487G>C c.(487-489)Gag>Cag p.E163Q KIPAN 2 239057702 239057702 + Missense_Mutation SNP G G C TCGA-SX-A7SN-01A-11D-A34Z-10 TCGA-SX-A7SN-10A-01D-A34Z-10 g.chr2:239057702G>C c.1394G>C c.(1393-1395)cGc>cCc p.R465P KIRP 2 239057702 239057702 + Missense_Mutation SNP G G C TCGA-SX-A7SN-01A-11D-A34Z-10 TCGA-SX-A7SN-10A-01D-A34Z-10 g.chr2:239057702G>C c.1394G>C c.(1393-1395)cGc>cCc p.R465P LGG 2 239049946 239049946 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:239049946C>T c.551C>T c.(550-552)gCc>gTc p.A184V LGG 2 239050040 239050040 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr2:239050040G>A c.645G>A c.(643-645)ctG>ctA p.L215L LGG 2 239051515 239051515 + Missense_Mutation SNP G G A TCGA-E1-5318-01A-01D-1468-08 TCGA-E1-5318-10A-01D-1468-08 g.chr2:239051515G>A c.850G>A c.(850-852)Gca>Aca p.A284T LGG 2 239057697 239057697 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:239057697G>A c.1389G>A c.(1387-1389)tcG>tcA p.S463S LGG 2 239059501 239059501 + Missense_Mutation SNP T T C TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr2:239059501T>C c.1532T>C c.(1531-1533)cTg>cCg p.L511P LIHC 2 239049437 239049437 + Silent SNP G G A TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr2:239049437G>A c.42G>A c.(40-42)tcG>tcA p.S14S LIHC 2 239056574 239056574 + Missense_Mutation SNP C C T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr2:239056574C>T c.1250C>T c.(1249-1251)gCt>gTt p.A417V LUAD 2 239049495 239049495 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr2:239049495G>T c.100G>T c.(100-102)Gac>Tac p.D34Y LUAD 2 239049536 239049536 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr2:239049536C>G c.141C>G c.(139-141)caC>caG p.H47Q LUAD 2 239054455 239054455 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr2:239054455G>C c.1132G>C c.(1132-1134)Gag>Cag p.E378Q LUAD 2 239056488 239056488 + Silent SNP C C T TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr2:239056488C>T c.1164C>T c.(1162-1164)gaC>gaT p.D388D LUAD 2 239057702 239057702 + Missense_Mutation SNP G G T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr2:239057702G>T c.1394G>T c.(1393-1395)cGc>cTc p.R465L LUAD 2 239057733 239057733 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr2:239057733C>T c.1425C>T c.(1423-1425)ctC>ctT p.L475L LUAD 2 239059471 239059471 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:239059471G>A c.1502G>A c.(1501-1503)aGc>aAc p.S501N LUAD 2 239059672 239059672 + Nonsense_Mutation SNP G G A TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr2:239059672G>A c.1703G>A c.(1702-1704)tGg>tAg p.W568* PAAD 2 239049668 239049668 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr2:239049668G>A c.273G>A c.(271-273)gtG>gtA p.V91V PAAD 2 239049856 239049856 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:239049856C>A c.461C>A c.(460-462)gCc>gAc p.A154D PAAD 2 239054470 239054470 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:239054470G>A c.1147G>A c.(1147-1149)Ggc>Agc p.G383S PAAD 2 239056536 239056536 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:239056536C>T c.1212C>T c.(1210-1212)ccC>ccT p.P404P PAAD 2 239059487 239059487 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:239059487C>T c.1518C>T c.(1516-1518)ggC>ggT p.G506G PRAD 2 239049574 239049574 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr2:239049574C>T c.179C>T c.(178-180)gCc>gTc p.A60V PRAD 2 239049642 239049642 + Missense_Mutation SNP G G C TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 g.chr2:239049642G>C c.247G>C c.(247-249)Gtg>Ctg p.V83L READ 2 239049819 239049819 + Missense_Mutation SNP G G A TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr2:239049819G>A c.424G>A c.(424-426)Ggg>Agg p.G142R SARC 2 239049493 239049493 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:239049493C>T c.98C>T c.(97-99)gCc>gTc p.A33V SARC 2 239049494 239049494 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:239049494C>T c.99C>T c.(97-99)gcC>gcT p.A33A SARC 2 239054412 239054412 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 g.chr2:239054412G>A c.1089G>A c.(1087-1089)atG>atA p.M363I SARC 2 239054442 239054442 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr2:239054442G>A c.1119G>A c.(1117-1119)gcG>gcA p.A373A SARC 2 239054443 239054443 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr2:239054443G>A c.1120G>A c.(1120-1122)Gcc>Acc p.A374T SKCM 2 239049585 239049585 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:239049585G>A c.190G>A c.(190-192)Ggt>Agt p.G64S SKCM 2 239049908 239049908 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:239049908C>T c.513C>T c.(511-513)ttC>ttT p.F171F SKCM 2 239054411 239054411 + Missense_Mutation SNP T T A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr2:239054411T>A c.1088T>A c.(1087-1089)aTg>aAg p.M363K SKCM 2 239057733 239057733 + Silent SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr2:239057733C>T c.1425C>T c.(1423-1425)ctC>ctT p.L475L SKCM 2 239059547 239059547 + Missense_Mutation SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr2:239059547A>T c.1578A>T c.(1576-1578)gaA>gaT p.E526D

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 2 239054468 239054468 single base substitution T C missense_variant I364T 1091T>C BLCA-US 2 239054468 239054468 single base substitution T C missense_variant I382T 1145T>C BRCA-EU 2 239043789 239043789 single base substitution C T upstream_gene_variant BRCA-EU 2 239046301 239046301 single base substitution G A upstream_gene_variant BRCA-EU 2 239046447 239046447 single base substitution C G upstream_gene_variant BRCA-EU 2 239047083 239047083 single base substitution G C upstream_gene_variant BRCA-EU 2 239047370 239047370 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 239048092 239048092 single base substitution G T intron_variant BRCA-EU 2 239048137 239048137 single base substitution G A intron_variant BRCA-EU 2 239048171 239048171 single base substitution G A intron_variant BRCA-EU 2 239048501 239048501 single base substitution G A intron_variant BRCA-EU 2 239048573 239048573 single base substitution A C intron_variant BRCA-EU 2 239050771 239050771 single base substitution C G intron_variant BRCA-EU 2 239051379 239051379 single base substitution C T intron_variant BRCA-EU 2 239053564 239053564 single base substitution A T missense_variant D292V 875A>T BRCA-EU 2 239053564 239053564 single base substitution A T missense_variant D310V 929A>T BRCA-EU 2 239053756 239053756 single base substitution G C intron_variant BRCA-EU 2 239054268 239054268 single base substitution C T intron_variant BRCA-EU 2 239055854 239055854 single base substitution A G intron_variant BRCA-EU 2 239057451 239057451 single base substitution G A intron_variant BRCA-EU 2 239061173 239061173 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 239061456 239061456 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 239063406 239063406 single base substitution T G downstream_gene_variant BRCA-EU 2 239065233 239065233 single base substitution C G downstream_gene_variant BRCA-EU 2 239066528 239066528 single base substitution C T downstream_gene_variant BRCA-FR 2 239047370 239047370 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 2 239055863 239055863 single base substitution G C intron_variant BRCA-US 2 239049614 239049614 single base substitution C T synonymous_variant R55R 165C>T BRCA-US 2 239049614 239049614 single base substitution C T synonymous_variant R73R 219C>T BRCA-US 2 239057647 239057647 single base substitution G A splice_acceptor_variant BRCA-US 2 239057685 239057685 single base substitution G T missense_variant K441N 1323G>T BRCA-US 2 239057685 239057685 single base substitution G T missense_variant K459N 1377G>T BRCA-US 2 239059479 239059479 single base substitution G A missense_variant E486K 1456G>A BRCA-US 2 239059479 239059479 single base substitution G A missense_variant E504K 1510G>A BTCA-JP 2 239059526 239059526 single base substitution C A synonymous_variant G501G 1503C>A BTCA-JP 2 239059526 239059526 single base substitution C A synonymous_variant G519G 1557C>A CLLE-ES 2 239053738 239053738 single base substitution A G intron_variant COAD-US 2 239049468 239049468 single base substitution C T missense_variant R25C 73C>T COAD-US 2 239049468 239049468 single base substitution C T missense_variant R7C 19C>T COAD-US 2 239049488 239049488 single base substitution G C missense_variant K13N 39G>C COAD-US 2 239049488 239049488 single base substitution G C missense_variant K31N 93G>C COAD-US 2 239049602 239049602 single base substitution C T synonymous_variant S51S 153C>T COAD-US 2 239049602 239049602 single base substitution C T synonymous_variant S69S 207C>T COAD-US 2 239049613 239049613 single base substitution G A missense_variant R55H 164G>A COAD-US 2 239049613 239049613 single base substitution G A missense_variant R73H 218G>A COAD-US 2 239049642 239049642 single base substitution G A missense_variant V65M 193G>A COAD-US 2 239049642 239049642 single base substitution G A missense_variant V83M 247G>A COAD-US 2 239049728 239049728 single base substitution G A synonymous_variant A111A 333G>A COAD-US 2 239049728 239049728 single base substitution G A synonymous_variant A93A 279G>A COAD-US 2 239050033 239050033 single base substitution C T missense_variant A195V 584C>T COAD-US 2 239050033 239050033 single base substitution C T missense_variant A213V 638C>T COAD-US 2 239057669 239057669 single base substitution C T missense_variant S436L 1307C>T COAD-US 2 239057669 239057669 single base substitution C T missense_variant S454L 1361C>T COAD-US 2 239057773 239057773 single base substitution G A missense_variant G471R 1411G>A COAD-US 2 239057773 239057773 single base substitution G A missense_variant G489R 1465G>A COAD-US 2 239059484 239059484 single base substitution T C synonymous_variant N487N 1461T>C COAD-US 2 239059484 239059484 single base substitution T C synonymous_variant N505N 1515T>C COAD-US 2 239059488 239059488 single base substitution G A missense_variant A489T 1465G>A COAD-US 2 239059488 239059488 single base substitution G A missense_variant A507T 1519G>A COAD-US 2 239059686 239059686 single base substitution G A missense_variant G555S 1663G>A COAD-US 2 239059686 239059686 single base substitution G A missense_variant G573S 1717G>A COCA-CN 2 239049371 239049371 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 2 239049928 239049928 single base substitution G A missense_variant R160Q 479G>A COCA-CN 2 239049928 239049928 single base substitution G A missense_variant R178Q 533G>A COCA-CN 2 239057734 239057734 single base substitution A G missense_variant I458V 1372A>G COCA-CN 2 239057734 239057734 single base substitution A G missense_variant I476V 1426A>G ESAD-UK 2 239042574 239042574 single base substitution C T upstream_gene_variant ESAD-UK 2 239048779 239048779 single base substitution C T intron_variant ESAD-UK 2 239049679 239049679 single base substitution G A missense_variant R77Q 230G>A ESAD-UK 2 239049679 239049679 single base substitution G A missense_variant R95Q 284G>A ESAD-UK 2 239049717 239049717 single base substitution C T missense_variant R108C 322C>T ESAD-UK 2 239049717 239049717 single base substitution C T missense_variant R90C 268C>T ESAD-UK 2 239051241 239051241 single base substitution G T intron_variant ESAD-UK 2 239053677 239053677 single base substitution C A intron_variant ESAD-UK 2 239056255 239056255 single base substitution G C intron_variant ESAD-UK 2 239058642 239058642 single base substitution G A intron_variant ESAD-UK 2 239059373 239059373 single base substitution C T intron_variant ESAD-UK 2 239060766 239060766 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 239062250 239062250 single base substitution C T downstream_gene_variant ESAD-UK 2 239064627 239064627 single base substitution G A downstream_gene_variant ESAD-UK 2 239065714 239065714 single base substitution T A downstream_gene_variant GBM-US 2 239049594 239049594 single base substitution G A missense_variant A49T 145G>A GBM-US 2 239049594 239049594 single base substitution G A missense_variant A67T 199G>A LGG-US 2 239050040 239050040 single base substitution G A synonymous_variant L197L 591G>A LGG-US 2 239050040 239050040 single base substitution G A synonymous_variant L215L 645G>A LGG-US 2 239051515 239051515 single base substitution G A missense_variant A266T 796G>A LGG-US 2 239051515 239051515 single base substitution G A missense_variant A284T 850G>A LGG-US 2 239059501 239059501 single base substitution T C missense_variant L493P 1478T>C LGG-US 2 239059501 239059501 single base substitution T C missense_variant L511P 1532T>C LICA-CN 2 239049826 239049826 single base substitution A G missense_variant Q126R 377A>G LICA-CN 2 239049826 239049826 single base substitution A G missense_variant Q144R 431A>G LICA-FR 2 239049460 239049460 single base substitution G A missense_variant G22D 65G>A LICA-FR 2 239049460 239049460 single base substitution G A missense_variant G4D 11G>A LICA-FR 2 239049494 239049494 single base substitution C T synonymous_variant A15A 45C>T LICA-FR 2 239049494 239049494 single base substitution C T synonymous_variant A33A 99C>T LICA-FR 2 239053057 239053057 single base substitution A C intron_variant LICA-FR 2 239054394 239054394 single base substitution G A stop_gained W339* 1017G>A LICA-FR 2 239054394 239054394 single base substitution G A stop_gained W357* 1071G>A LIHC-US 2 239049561 239049561 single base substitution C T missense_variant P38S 112C>T LIHC-US 2 239049561 239049561 single base substitution C T missense_variant P56S 166C>T LIHC-US 2 239054430 239054430 single base substitution C A missense_variant N351K 1053C>A LIHC-US 2 239054430 239054430 single base substitution C A missense_variant N369K 1107C>A LIHC-US 2 239056574 239056574 single base substitution C T missense_variant A399V 1196C>T LIHC-US 2 239056574 239056574 single base substitution C T missense_variant A417V 1250C>T LINC-JP 2 239043188 239043188 single base substitution G A upstream_gene_variant LINC-JP 2 239051741 239051741 single base substitution G C intron_variant LINC-JP 2 239053522 239053522 single base substitution C A intron_variant LINC-JP 2 239053541 239053541 single base substitution A T splice_acceptor_variant LINC-JP 2 239060687 239060687 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 239043362 239043362 single base substitution G T upstream_gene_variant LIRI-JP 2 239049801 239049801 single base substitution C T synonymous_variant L118L 352C>T LIRI-JP 2 239049801 239049801 single base substitution C T synonymous_variant L136L 406C>T LIRI-JP 2 239058453 239058453 deletion of <=200bp G - intron_variant LIRI-JP 2 239063753 239063753 single base substitution C G downstream_gene_variant LUSC-KR 2 239049742 239049742 single base substitution C T missense_variant P116L 347C>T LUSC-KR 2 239049742 239049742 single base substitution C T missense_variant P98L 293C>T LUSC-KR 2 239053876 239053876 single base substitution C A intron_variant LUSC-KR 2 239054919 239054919 single base substitution G T intron_variant LUSC-KR 2 239056917 239056917 single base substitution G T intron_variant LUSC-KR 2 239060935 239060935 single base substitution A G 3_prime_UTR_variant LUSC-KR 2 239062795 239062795 single base substitution C T downstream_gene_variant LUSC-KR 2 239063815 239063815 single base substitution C A downstream_gene_variant LUSC-KR 2 239065024 239065024 single base substitution C T downstream_gene_variant MALY-DE 2 239042513 239042513 single base substitution A C upstream_gene_variant MALY-DE 2 239043033 239043033 single base substitution A C upstream_gene_variant MALY-DE 2 239043673 239043673 single base substitution C T upstream_gene_variant MALY-DE 2 239053073 239053073 single base substitution A C intron_variant MALY-DE 2 239055623 239055623 single base substitution G C intron_variant MALY-DE 2 239058589 239058589 single base substitution A C intron_variant MALY-DE 2 239060196 239060196 single base substitution G A 3_prime_UTR_variant MALY-DE 2 239062410 239062410 single base substitution C T downstream_gene_variant MALY-DE 2 239062457 239062457 single base substitution A G downstream_gene_variant MALY-DE 2 239064058 239064058 single base substitution C T downstream_gene_variant MALY-DE 2 239065715 239065715 insertion of <=200bp - A downstream_gene_variant MELA-AU 2 239042848 239042848 single base substitution G A upstream_gene_variant MELA-AU 2 239042987 239042987 single base substitution G A upstream_gene_variant MELA-AU 2 239043816 239043816 single base substitution C A upstream_gene_variant MELA-AU 2 239043816 239043816 single base substitution C T upstream_gene_variant MELA-AU 2 239044065 239044065 single base substitution C T upstream_gene_variant MELA-AU 2 239044082 239044082 single base substitution C T upstream_gene_variant MELA-AU 2 239044461 239044461 single base substitution C T upstream_gene_variant MELA-AU 2 239044524 239044524 single base substitution C T upstream_gene_variant MELA-AU 2 239044592 239044592 single base substitution C T upstream_gene_variant MELA-AU 2 239044613 239044613 single base substitution C T upstream_gene_variant MELA-AU 2 239045056 239045056 single base substitution C T upstream_gene_variant MELA-AU 2 239045117 239045117 single base substitution C T upstream_gene_variant MELA-AU 2 239045601 239045601 single base substitution C T upstream_gene_variant MELA-AU 2 239045703 239045703 single base substitution G A upstream_gene_variant MELA-AU 2 239045862 239045863 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 2 239046265 239046265 single base substitution C T upstream_gene_variant MELA-AU 2 239046622 239046622 single base substitution C T upstream_gene_variant MELA-AU 2 239046808 239046808 single base substitution C T upstream_gene_variant MELA-AU 2 239047030 239047030 single base substitution G A upstream_gene_variant MELA-AU 2 239047125 239047125 single base substitution C T upstream_gene_variant MELA-AU 2 239047453 239047453 single base substitution C T intron_variant MELA-AU 2 239047795 239047795 single base substitution G A intron_variant MELA-AU 2 239048039 239048039 single base substitution G A intron_variant MELA-AU 2 239048072 239048072 single base substitution C T intron_variant MELA-AU 2 239048185 239048185 single base substitution G A intron_variant MELA-AU 2 239048204 239048204 single base substitution G A intron_variant MELA-AU 2 239048286 239048286 single base substitution C T intron_variant MELA-AU 2 239048716 239048716 single base substitution C T intron_variant MELA-AU 2 239048852 239048852 single base substitution C T intron_variant MELA-AU 2 239048947 239048947 single base substitution G A intron_variant MELA-AU 2 239048967 239048967 single base substitution G A intron_variant MELA-AU 2 239048990 239048990 single base substitution C T intron_variant MELA-AU 2 239049017 239049017 single base substitution G A intron_variant MELA-AU 2 239049425 239049425 single base substitution C T 5_prime_UTR_variant MELA-AU 2 239049425 239049425 single base substitution C T synonymous_variant F10F 30C>T MELA-AU 2 239049459 239049459 single base substitution G A missense_variant G22S 64G>A MELA-AU 2 239049459 239049459 single base substitution G A missense_variant G4S 10G>A MELA-AU 2 239049545 239049545 single base substitution C T synonymous_variant L32L 96C>T MELA-AU 2 239049545 239049545 single base substitution C T synonymous_variant L50L 150C>T MELA-AU 2 239049593 239049593 single base substitution C T synonymous_variant F48F 144C>T MELA-AU 2 239049593 239049593 single base substitution C T synonymous_variant F66F 198C>T MELA-AU 2 239049665 239049665 single base substitution C T synonymous_variant F72F 216C>T MELA-AU 2 239049665 239049665 single base substitution C T synonymous_variant F90F 270C>T MELA-AU 2 239049866 239049866 single base substitution C T synonymous_variant F139F 417C>T MELA-AU 2 239049866 239049866 single base substitution C T synonymous_variant F157F 471C>T MELA-AU 2 239049908 239049908 single base substitution C T synonymous_variant F153F 459C>T MELA-AU 2 239049908 239049908 single base substitution C T synonymous_variant F171F 513C>T MELA-AU 2 239049951 239049951 single base substitution G A missense_variant D168N 502G>A MELA-AU 2 239049951 239049951 single base substitution G A missense_variant D186N 556G>A MELA-AU 2 239050210 239050210 single base substitution G A intron_variant MELA-AU 2 239050221 239050221 single base substitution C T intron_variant MELA-AU 2 239050246 239050246 single base substitution G A intron_variant MELA-AU 2 239050262 239050262 single base substitution T C intron_variant MELA-AU 2 239050514 239050514 single base substitution G A intron_variant MELA-AU 2 239050809 239050809 single base substitution C T intron_variant MELA-AU 2 239051024 239051024 single base substitution G A intron_variant MELA-AU 2 239051251 239051251 single base substitution G A intron_variant MELA-AU 2 239051379 239051379 single base substitution C T intron_variant MELA-AU 2 239051390 239051390 single base substitution G A intron_variant MELA-AU 2 239051906 239051906 single base substitution C T intron_variant MELA-AU 2 239051937 239051937 single base substitution G A intron_variant MELA-AU 2 239051969 239051969 single base substitution G A intron_variant MELA-AU 2 239052023 239052023 single base substitution C T intron_variant MELA-AU 2 239052083 239052083 single base substitution C T intron_variant MELA-AU 2 239052284 239052284 single base substitution G A intron_variant MELA-AU 2 239052323 239052323 single base substitution C T intron_variant MELA-AU 2 239052372 239052372 single base substitution T C intron_variant MELA-AU 2 239052439 239052439 single base substitution G A intron_variant MELA-AU 2 239052505 239052505 single base substitution G A intron_variant MELA-AU 2 239052676 239052676 single base substitution T G intron_variant MELA-AU 2 239052694 239052694 single base substitution C T intron_variant MELA-AU 2 239052738 239052738 single base substitution C T intron_variant MELA-AU 2 239052860 239052860 single base substitution C T intron_variant MELA-AU 2 239053150 239053151 multiple base substitution (>=2bp and <=200bp) AG GT intron_variant MELA-AU 2 239053380 239053380 single base substitution C T intron_variant MELA-AU 2 239053390 239053390 single base substitution C T intron_variant MELA-AU 2 239053414 239053414 single base substitution C A intron_variant MELA-AU 2 239053433 239053433 single base substitution G A intron_variant MELA-AU 2 239053644 239053644 single base substitution G A intron_variant MELA-AU 2 239053703 239053703 single base substitution C T intron_variant MELA-AU 2 239054209 239054209 single base substitution G A intron_variant MELA-AU 2 239054218 239054218 single base substitution G A intron_variant MELA-AU 2 239054376 239054376 single base substitution C T synonymous_variant P333P 999C>T MELA-AU 2 239054376 239054376 single base substitution C T synonymous_variant P351P 1053C>T MELA-AU 2 239054400 239054400 single base substitution C T synonymous_variant P341P 1023C>T MELA-AU 2 239054400 239054400 single base substitution C T synonymous_variant P359P 1077C>T MELA-AU 2 239054563 239054564 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 239054646 239054646 single base substitution G C intron_variant MELA-AU 2 239055241 239055241 single base substitution T A intron_variant MELA-AU 2 239055318 239055318 single base substitution G A intron_variant MELA-AU 2 239055651 239055651 single base substitution A G intron_variant MELA-AU 2 239056147 239056147 single base substitution C T intron_variant MELA-AU 2 239056296 239056296 single base substitution C T intron_variant MELA-AU 2 239056346 239056346 single base substitution C T intron_variant MELA-AU 2 239056666 239056666 single base substitution G A splice_region_variant MELA-AU 2 239056853 239056853 single base substitution G A intron_variant MELA-AU 2 239057064 239057064 single base substitution C T intron_variant MELA-AU 2 239057080 239057080 single base substitution G A intron_variant MELA-AU 2 239057581 239057581 single base substitution G A intron_variant MELA-AU 2 239057733 239057733 single base substitution C T synonymous_variant L457L 1371C>T MELA-AU 2 239057733 239057733 single base substitution C T synonymous_variant L475L 1425C>T MELA-AU 2 239057804 239057804 single base substitution C T intron_variant MELA-AU 2 239057810 239057810 single base substitution C T intron_variant MELA-AU 2 239058062 239058062 single base substitution A T intron_variant MELA-AU 2 239058439 239058439 single base substitution C T intron_variant MELA-AU 2 239058447 239058447 single base substitution G A intron_variant MELA-AU 2 239058507 239058507 single base substitution G A intron_variant MELA-AU 2 239058515 239058515 single base substitution G A intron_variant MELA-AU 2 239058799 239058799 single base substitution C T intron_variant MELA-AU 2 239058945 239058945 single base substitution C T intron_variant MELA-AU 2 239059005 239059005 single base substitution C T intron_variant MELA-AU 2 239059313 239059313 single base substitution G A intron_variant MELA-AU 2 239059337 239059337 single base substitution G A intron_variant MELA-AU 2 239059380 239059380 single base substitution G A intron_variant MELA-AU 2 239059524 239059524 single base substitution G A missense_variant G501S 1501G>A MELA-AU 2 239059524 239059524 single base substitution G A missense_variant G519S 1555G>A MELA-AU 2 239059768 239059768 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239059782 239059782 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239059811 239059811 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239060171 239060171 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239060227 239060227 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239060243 239060244 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 239060693 239060693 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239060842 239060842 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239061033 239061033 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239061039 239061039 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239061145 239061145 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239061341 239061341 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239061423 239061424 multiple base substitution (>=2bp and <=200bp) GG AT 3_prime_UTR_variant MELA-AU 2 239061686 239061686 single base substitution C T downstream_gene_variant MELA-AU 2 239062016 239062016 single base substitution G A downstream_gene_variant MELA-AU 2 239062090 239062090 single base substitution G A downstream_gene_variant MELA-AU 2 239062163 239062163 single base substitution T C downstream_gene_variant MELA-AU 2 239062224 239062224 single base substitution G A downstream_gene_variant MELA-AU 2 239062273 239062273 single base substitution A C downstream_gene_variant MELA-AU 2 239062658 239062658 single base substitution C T downstream_gene_variant MELA-AU 2 239063401 239063401 single base substitution C T downstream_gene_variant MELA-AU 2 239063781 239063781 single base substitution G A downstream_gene_variant MELA-AU 2 239063812 239063812 single base substitution T G downstream_gene_variant MELA-AU 2 239064327 239064327 single base substitution C T downstream_gene_variant MELA-AU 2 239064636 239064636 single base substitution G A downstream_gene_variant MELA-AU 2 239064883 239064883 single base substitution C T downstream_gene_variant MELA-AU 2 239064975 239064975 single base substitution G A downstream_gene_variant MELA-AU 2 239065084 239065084 single base substitution A G downstream_gene_variant MELA-AU 2 239065301 239065301 single base substitution G A downstream_gene_variant MELA-AU 2 239065710 239065710 insertion of <=200bp - T downstream_gene_variant MELA-AU 2 239065715 239065715 single base substitution A G downstream_gene_variant MELA-AU 2 239066048 239066048 single base substitution G A downstream_gene_variant MELA-AU 2 239066226 239066226 single base substitution G A downstream_gene_variant MELA-AU 2 239066257 239066257 single base substitution C T downstream_gene_variant MELA-AU 2 239066266 239066266 single base substitution G A downstream_gene_variant MELA-AU 2 239066566 239066566 single base substitution C T downstream_gene_variant ORCA-IN 2 239057669 239057669 single base substitution C T missense_variant S436L 1307C>T ORCA-IN 2 239057669 239057669 single base substitution C T missense_variant S454L 1361C>T ORCA-IN 2 239064149 239064149 single base substitution T G downstream_gene_variant OV-AU 2 239043181 239043181 single base substitution C A upstream_gene_variant OV-AU 2 239043454 239043454 single base substitution C A upstream_gene_variant OV-AU 2 239043746 239043746 single base substitution C T upstream_gene_variant OV-AU 2 239047230 239047230 single base substitution G C upstream_gene_variant OV-AU 2 239048813 239048813 single base substitution C A intron_variant OV-AU 2 239057496 239057496 single base substitution C G intron_variant OV-AU 2 239058591 239058591 single base substitution A C intron_variant OV-AU 2 239060097 239060097 single base substitution A C 3_prime_UTR_variant OV-AU 2 239060563 239060563 single base substitution T G 3_prime_UTR_variant OV-AU 2 239061199 239061199 single base substitution A T 3_prime_UTR_variant OV-AU 2 239062914 239062914 single base substitution A C downstream_gene_variant PACA-AU 2 239047030 239047030 single base substitution G A upstream_gene_variant PACA-AU 2 239047152 239047152 single base substitution G C upstream_gene_variant PACA-AU 2 239048626 239048626 single base substitution G T intron_variant PACA-AU 2 239051502 239051504 deletion of <=200bp GGA - inframe_deletion LE261L PACA-AU 2 239051502 239051504 deletion of <=200bp GGA - inframe_deletion LE279L PACA-AU 2 239055295 239055295 single base substitution G A intron_variant PACA-AU 2 239056350 239056350 single base substitution G A intron_variant PACA-AU 2 239058315 239058315 single base substitution C T intron_variant PACA-AU 2 239058795 239058795 single base substitution C T intron_variant PACA-AU 2 239061115 239061115 single base substitution T G 3_prime_UTR_variant PACA-AU 2 239061363 239061363 single base substitution C G 3_prime_UTR_variant PACA-AU 2 239064031 239064031 single base substitution C T downstream_gene_variant PACA-AU 2 239065710 239065710 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 239046043 239046043 single base substitution T G upstream_gene_variant PACA-CA 2 239049639 239049639 single base substitution G A missense_variant A64T 190G>A PACA-CA 2 239049639 239049639 single base substitution G A missense_variant A82T 244G>A PACA-CA 2 239049937 239049937 single base substitution C T missense_variant T163I 488C>T PACA-CA 2 239049937 239049937 single base substitution C T missense_variant T181I 542C>T PACA-CA 2 239051885 239051885 single base substitution G A intron_variant PACA-CA 2 239052191 239052191 single base substitution C G intron_variant PACA-CA 2 239058003 239058003 single base substitution G C intron_variant PACA-CA 2 239059379 239059379 single base substitution C T intron_variant PACA-CA 2 239061498 239061498 single base substitution G T 3_prime_UTR_variant PACA-CA 2 239064750 239064750 deletion of <=200bp C - downstream_gene_variant PACA-CA 2 239065164 239065164 single base substitution C T downstream_gene_variant PBCA-DE 2 239042913 239042913 single base substitution G A upstream_gene_variant PBCA-DE 2 239050008 239050008 single base substitution C T missense_variant R187C 559C>T PBCA-DE 2 239050008 239050008 single base substitution C T missense_variant R205C 613C>T PBCA-DE 2 239054495 239054495 single base substitution T C intron_variant PBCA-DE 2 239061535 239061535 single base substitution G T 3_prime_UTR_variant PBCA-DE 2 239062160 239062160 single base substitution C T downstream_gene_variant PRAD-CA 2 239043879 239043879 single base substitution C T upstream_gene_variant PRAD-CA 2 239058116 239058116 single base substitution G A intron_variant PRAD-UK 2 239048951 239048951 single base substitution C T intron_variant PRAD-UK 2 239059560 239059560 single base substitution G A missense_variant V513M 1537G>A PRAD-UK 2 239059560 239059560 single base substitution G A missense_variant V531M 1591G>A PRAD-UK 2 239059783 239059783 single base substitution G A 3_prime_UTR_variant PRAD-UK 2 239064329 239064329 single base substitution G A downstream_gene_variant PRAD-US 2 239049574 239049574 single base substitution C T missense_variant A42V 125C>T PRAD-US 2 239049574 239049574 single base substitution C T missense_variant A60V 179C>T PRAD-US 2 239049642 239049642 single base substitution G C missense_variant V65L 193G>C PRAD-US 2 239049642 239049642 single base substitution G C missense_variant V83L 247G>C READ-US 2 239049819 239049819 single base substitution G A missense_variant G124R 370G>A READ-US 2 239049819 239049819 single base substitution G A missense_variant G142R 424G>A READ-US 2 239050033 239050033 single base substitution C T missense_variant A195V 584C>T READ-US 2 239050033 239050033 single base substitution C T missense_variant A213V 638C>T READ-US 2 239050142 239050142 single base substitution G A synonymous_variant R231R 693G>A READ-US 2 239050142 239050142 single base substitution G A synonymous_variant R249R 747G>A RECA-EU 2 239042721 239042721 single base substitution C G upstream_gene_variant RECA-EU 2 239045052 239045052 single base substitution C T upstream_gene_variant RECA-EU 2 239048333 239048333 single base substitution C T intron_variant RECA-EU 2 239059927 239059927 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 239043740 239043740 single base substitution C T upstream_gene_variant SKCA-BR 2 239043816 239043816 single base substitution C T upstream_gene_variant SKCA-BR 2 239043857 239043857 single base substitution G A upstream_gene_variant SKCA-BR 2 239044558 239044558 single base substitution C T upstream_gene_variant SKCA-BR 2 239044856 239044856 single base substitution G A upstream_gene_variant SKCA-BR 2 239047223 239047223 single base substitution C T upstream_gene_variant SKCA-BR 2 239051894 239051894 single base substitution G C intron_variant SKCA-BR 2 239051995 239051995 single base substitution G A intron_variant SKCA-BR 2 239052202 239052202 single base substitution C T intron_variant SKCA-BR 2 239053010 239053010 insertion of <=200bp - CGGAAGGAAAGAA intron_variant SKCA-BR 2 239053010 239053022 deletion of <=200bp CGGAAGGAAGGAA - intron_variant SKCA-BR 2 239053053 239053093 deletion of <=200bp AAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGC - intron_variant SKCA-BR 2 239053061 239053085 deletion of <=200bp AAGGAAGGAAGGAAGGCAGGCAGGC - intron_variant SKCA-BR 2 239053069 239053089 deletion of <=200bp AAGGAAGGCAGGCAGGCAGGC - intron_variant SKCA-BR 2 239053641 239053641 single base substitution G A intron_variant SKCA-BR 2 239053642 239053642 single base substitution G A intron_variant SKCA-BR 2 239054246 239054246 single base substitution A T intron_variant SKCA-BR 2 239055170 239055170 single base substitution C T intron_variant SKCA-BR 2 239055828 239055828 single base substitution G T intron_variant SKCA-BR 2 239057483 239057483 single base substitution T G intron_variant SKCA-BR 2 239060608 239060608 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 239060715 239060715 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 239060877 239060877 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 239061159 239061159 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 239064580 239064580 single base substitution G A downstream_gene_variant SKCA-BR 2 239065996 239065996 single base substitution G A downstream_gene_variant SKCM-US 2 239049740 239049740 single base substitution C T synonymous_variant F115F 345C>T SKCM-US 2 239049740 239049740 single base substitution C T synonymous_variant F97F 291C>T SKCM-US 2 239049908 239049908 single base substitution C T synonymous_variant F153F 459C>T SKCM-US 2 239049908 239049908 single base substitution C T synonymous_variant F171F 513C>T SKCM-US 2 239054411 239054411 single base substitution T A missense_variant M345K 1034T>A SKCM-US 2 239054411 239054411 single base substitution T A missense_variant M363K 1088T>A SKCM-US 2 239057733 239057733 single base substitution C T synonymous_variant L457L 1371C>T SKCM-US 2 239057733 239057733 single base substitution C T synonymous_variant L475L 1425C>T SKCM-US 2 239059547 239059547 single base substitution A T missense_variant E508D 1524A>T SKCM-US 2 239059547 239059547 single base substitution A T missense_variant E526D 1578A>T STAD-US 2 239049766 239049766 single base substitution G A missense_variant R106H 317G>A STAD-US 2 239049766 239049766 single base substitution G A missense_variant R124H 371G>A STAD-US 2 239049818 239049818 single base substitution C T synonymous_variant F123F 369C>T STAD-US 2 239049818 239049818 single base substitution C T synonymous_variant F141F 423C>T STAD-US 2 239050088 239050088 single base substitution C T synonymous_variant C213C 639C>T STAD-US 2 239050088 239050088 single base substitution C T synonymous_variant C231C 693C>T UCEC-US 2 239049614 239049614 single base substitution C T synonymous_variant R55R 165C>T UCEC-US 2 239049614 239049614 single base substitution C T synonymous_variant R73R 219C>T UCEC-US 2 239049692 239049692 single base substitution G A synonymous_variant T81T 243G>A UCEC-US 2 239049692 239049692 single base substitution G A synonymous_variant T99T 297G>A UCEC-US 2 239054405 239054405 single base substitution C T missense_variant A343V 1028C>T UCEC-US 2 239054405 239054405 single base substitution C T missense_variant A361V 1082C>T UCEC-US 2 239054442 239054442 single base substitution G T synonymous_variant A355A 1065G>T UCEC-US 2 239054442 239054442 single base substitution G T synonymous_variant A373A 1119G>T UCEC-US 2 239056477 239056477 single base substitution A G missense_variant T367A 1099A>G UCEC-US 2 239056477 239056477 single base substitution A G missense_variant T385A 1153A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHEWS008 COSM4583350 c.507C>T p.D169D Substitution - coding silent 2:238141261-238141261 + CHC892T COSM4795732 c.1071G>A p.W357* Substitution - Nonsense 2:238145753-238145753 + 3N09-VS-3T09 COSM4979235 c.283C>T p.R95W Substitution - Missense 2:238141037-238141037 + PCSI_0090_Pa_P COSM3380099 c.542C>T p.T181I Substitution - Missense 2:238141296-238141296 + ESO-859 COSM1239278 c.1716C>T p.S572S Substitution - coding silent 2:238151044-238151044 + HCC3T COSM1614591 c.908-2A>T p.? Unknown 2:238144900-238144900 + TCGA-AM-5821-01 COSM442577 c.207C>T p.S69S Substitution - coding silent 2:238140961-238140961 + LUAD-5V8LT COSM402185 c.970C>A p.L324M Substitution - Missense 2:238144964-238144964 + 0094_CRUK_PC_0094_T1_DNA COSM4420073 c.1591G>A p.V531M Substitution - Missense 2:238150919-238150919 + TCGA-EB-A5UL-06 COSM3579752 c.1088T>A p.M363K Substitution - Missense 2:238145770-238145770 + T1 COSM5344130 c.1208C>T p.T403M Substitution - Missense 2:238147891-238147891 + 2492708 COSM5718356 c.1125C>T p.L375L Substitution - coding silent 2:238145807-238145807 + TCGA-AA-3662-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + SC_9008 COSM5566032 c.124C>T p.R42W Substitution - Missense 2:238140878-238140878 + CoCM-1 COSM3052080 c.1427T>C p.I476T Substitution - Missense 2:238149094-238149094 + TCGA-32-4719-01 COSM3407730 c.199G>A p.A67T Substitution - Missense 2:238140953-238140953 + 2492723 COSM5533474 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + TCGA-EE-A2MD-06 COSM3579751 c.513C>T p.F171F Substitution - coding silent 2:238141267-238141267 + CSCC-20-T COSM4559734 c.816G>T p.V272V Substitution - coding silent 2:238142840-238142840 + T3724 COSM4653492 c.658A>G p.S220G Substitution - Missense 2:238141412-238141412 + TCGA-F5-6702-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AZ-4315-01 COSM1406705 c.218G>A p.R73H Substitution - Missense 2:238140972-238140972 + C086 COSM5533474 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + SC_9036 COSM5565992 c.1261C>T p.R421W Substitution - Missense 2:238147944-238147944 + TCGA-D5-6930-01 COSM1406700 c.73C>T p.R25C Substitution - Missense 2:238140827-238140827 + SNUH_G16_S1 COSM4001580 c.217C>T p.R73C Substitution - Missense 2:238140971-238140971 + 587282 COSM1212638 c.1681G>A p.V561I Substitution - Missense 2:238151009-238151009 + TCGA-D1-A103-01 COSM1018528 c.1153A>G p.T385A Substitution - Missense 2:238147836-238147836 + XHDG21 COSM4768906 c.1389G>A p.S463S Substitution - coding silent 2:238149056-238149056 + 2492710 COSM5718357 c.1125C>T p.L375L Substitution - coding silent 2:238145807-238145807 + ESO-859 COSM1239279 c.1716C>T p.S572S Substitution - coding silent 2:238151044-238151044 + 2492720 COSM5533474 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + PD8617a COSM5769252 c.929A>T p.D310V Substitution - Missense 2:238144923-238144923 + SNU-C2B COSM4651456 c.637G>A p.A213T Substitution - Missense 2:238141391-238141391 + TCGA-BR-8680-01 COSM4092734 c.423C>T p.F141F Substitution - coding silent 2:238141177-238141177 + HDC54 COSM1565653 c.424G>A p.G142R Substitution - Missense 2:238141178-238141178 + 3_RESISTANT COSM1723586 c.1217G>A p.S406N Substitution - Missense 2:238147900-238147900 + TCGA-EB-A5UL-06 COSM3579753 c.1088T>A p.M363K Substitution - Missense 2:238145770-238145770 + CSCC-31-T COSM4513315 c.933C>T p.F311F Substitution - coding silent 2:238144927-238144927 + HCT15 COSM4632885 c.554G>A p.G185D Substitution - Missense 2:238141308-238141308 + PTC-54C COSM4133588 c.1035C>T p.T345T Substitution - coding silent 2:238145717-238145717 + D28 COSM5545200 c.1474C>T p.L492L Substitution - coding silent 2:238149141-238149141 + NCI-H747 COSM3052064 c.1255G>A p.G419S Substitution - Missense 2:238147938-238147938 + SNU-175 COSM3052052 c.1149C>T p.G383G Substitution - coding silent 2:238145831-238145831 + CCK81 COSM1406704 c.218G>A p.R73H Substitution - Missense 2:238140972-238140972 + CHC892T COSM4795733 c.1071G>A p.W357* Substitution - Nonsense 2:238145753-238145753 + UM-SCC-2 COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + 2492724 COSM5724686 c.1459G>A p.D487N Substitution - Missense 2:238149126-238149126 + ESCC_158 COSM5646797 c.1560C>T p.G520G Substitution - coding silent 2:238150888-238150888 + TCGA-CD-8524-01 COSM4092731 c.371G>A p.R124H Substitution - Missense 2:238141125-238141125 + BHY COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + PDA_037 COSM4999974 c.1394G>A p.R465H Substitution - Missense 2:238149061-238149061 + HCT8 COSM4634789 c.376C>A p.L126M Substitution - Missense 2:238141130-238141130 + BCB307T COSM4955842 c.99C>T p.A33A Substitution - coding silent 2:238140853-238140853 + RK243_C01 COSM4779905 c.406C>T p.L136L Substitution - coding silent 2:238141160-238141160 + 587256 COSM1212642 c.70C>T p.Q24* Substitution - Nonsense 2:238140824-238140824 + TCGA-CI-6624-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + RK243_C01 COSM4779906 c.406C>T p.L136L Substitution - coding silent 2:238141160-238141160 + TCGA-EJ-7782-01 COSM3783415 c.179C>T p.A60V Substitution - Missense 2:238140933-238140933 + HCC3 COSM1614591 c.908-2A>T p.? Unknown 2:238144900-238144900 + 61 COSM5736471 c.1486-1G>T p.? Unknown 2:238150813-238150813 + 587278 COSM1212640 c.604C>T p.R202C Substitution - Missense 2:238141358-238141358 + TCGA-AM-5821-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + BD138T COSM5507097 c.1557C>A p.G519G Substitution - coding silent 2:238150885-238150885 + TCGA-BR-8591-01 COSM4092736 c.693C>T p.C231C Substitution - coding silent 2:238141447-238141447 + SC_9057 COSM5553446 c.129G>C p.E43D Substitution - Missense 2:238140883-238140883 + PR-04-639 COSM245317 c.1164C>T p.D388D Substitution - coding silent 2:238147847-238147847 + 2492725 COSM5724685 c.1459G>A p.D487N Substitution - Missense 2:238149126-238149126 + SNU-175 COSM4650585 c.142C>T p.R48C Substitution - Missense 2:238140896-238140896 + CHC320T COSM442580 c.885T>C p.F295F Substitution - coding silent 2:238142909-238142909 + TCGA-FG-7636-01 COSM3972129 c.645G>A p.L215L Substitution - coding silent 2:238141399-238141399 + TCGA-AM-5821-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + CLL121 COSM1291472 c.424G>T p.G142W Substitution - Missense 2:238141178-238141178 + LIM1215 COSM4639501 c.369C>T p.G123G Substitution - coding silent 2:238141123-238141123 + ESCC_10 COSM4413129 c.887C>T p.A296V Substitution - Missense 2:238142911-238142911 + UPCI:SCC090 COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + TCGA-DC-6157-01 COSM1565653 c.424G>A p.G142R Substitution - Missense 2:238141178-238141178 + BCB307T COSM4955842 c.99C>T p.A33A Substitution - coding silent 2:238140853-238140853 + T2417 COSM4696520 c.235G>A p.V79M Substitution - Missense 2:238140989-238140989 + SCC-25 COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + TCGA-BH-A0BF-01 COSM442584 c.1377G>T p.K459N Substitution - Missense 2:238149044-238149044 + SC_9057 COSM5553445 c.129G>C p.E43D Substitution - Missense 2:238140883-238140883 + 61 COSM5736472 c.1486-1G>T p.? Unknown 2:238150813-238150813 + TCGA-AA-3712-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-BR-8591-01 COSM4092735 c.693C>T p.C231C Substitution - coding silent 2:238141447-238141447 + PCSI_0090_Pa_X COSM3380098 c.542C>T p.T181I Substitution - Missense 2:238141296-238141296 + TCGA-D1-A15X-01 COSM1018522 c.297G>A p.T99T Substitution - coding silent 2:238141051-238141051 + TCGA-CM-6163-01 COSM1406713 c.1519G>A p.A507T Substitution - Missense 2:238150847-238150847 + T2269 COSM4696522 c.305A>G p.N102S Substitution - Missense 2:238141059-238141059 + 2492709 COSM5718357 c.1125C>T p.L375L Substitution - coding silent 2:238145807-238145807 + TCGA-D1-A15X-01 COSM1018523 c.297G>A p.T99T Substitution - coding silent 2:238141051-238141051 + SNU-175 COSM4650586 c.142C>T p.R48C Substitution - Missense 2:238140896-238140896 + TCGA-AZ-6598-01 COSM1406710 c.1465G>A p.G489R Substitution - Missense 2:238149132-238149132 + BCB307T COSM4955843 c.99C>T p.A33A Substitution - coding silent 2:238140853-238140853 + OSCC-GB_00160111 COSM1406709 c.1361C>T p.S454L Substitution - Missense 2:238149028-238149028 + 16T COSM1406709 c.1361C>T p.S454L Substitution - Missense 2:238149028-238149028 + SCC-15 COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + PTC-515C COSM4133583 c.145G>A p.G49S Substitution - Missense 2:238140899-238140899 + TCGA-G4-6311-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + ESCC_158 COSM5646796 c.1560C>T p.G520G Substitution - coding silent 2:238150888-238150888 + SC_9036 COSM5565993 c.1261C>T p.R421W Substitution - Missense 2:238147944-238147944 + 3_PRE-TREATMENT COSM1723586 c.1217G>A p.S406N Substitution - Missense 2:238147900-238147900 + PCSI_0305_Pa_P_526 COSM3782156 c.244G>A p.A82T Substitution - Missense 2:238140998-238140998 + TCGA-E2-A1B4-01 COSM442578 c.219C>T p.R73R Substitution - coding silent 2:238140973-238140973 + H442 COSM5043626 c.1486-8G>A p.? Unknown 2:238150806-238150806 + TCGA-G4-6311-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + 2334201 COSM321283 c.1485G>T p.K495N Substitution - Missense 2:238149152-238149152 + 2492721 COSM5533474 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + TCGA-D1-A103-01 COSM1018525 c.1082C>T p.A361V Substitution - Missense 2:238145764-238145764 + TCGA-EJ-7782-01 COSM3783414 c.179C>T p.A60V Substitution - Missense 2:238140933-238140933 + 2492723 COSM5533473 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + 16T COSM1406708 c.1361C>T p.S454L Substitution - Missense 2:238149028-238149028 + PTC-515C COSM4133584 c.145G>A p.G49S Substitution - Missense 2:238140899-238140899 + ICGC_PA46 COSM3670263 c.613C>T p.R205C Substitution - Missense 2:238141367-238141367 + T2269 COSM4696523 c.305A>G p.N102S Substitution - Missense 2:238141059-238141059 + TCGA-CD-8524-01 COSM4092732 c.371G>A p.R124H Substitution - Missense 2:238141125-238141125 + SNU-C4 COSM4653492 c.658A>G p.S220G Substitution - Missense 2:238141412-238141412 + TCGA-CI-6624-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AA-3713-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + OSCC-GB_00160111 COSM1406708 c.1361C>T p.S454L Substitution - Missense 2:238149028-238149028 + TCGA-AY-6196-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + H442 COSM5043627 c.1486-8G>A p.? Unknown 2:238150806-238150806 + S00472 COSM5657813 c.291C>A p.T97T Substitution - coding silent 2:238141045-238141045 + SCC-25 COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + HDC54 COSM1565652 c.424G>A p.G142R Substitution - Missense 2:238141178-238141178 + WT053 COSM442581 c.885T>C p.F295F Substitution - coding silent 2:238142909-238142909 + 2492726 COSM5724686 c.1459G>A p.D487N Substitution - Missense 2:238149126-238149126 + TCGA-EE-A3J8-06 COSM3579755 c.1578A>T p.E526D Substitution - Missense 2:238150906-238150906 + TCGA-FD-A3N5-01 COSM1306592 c.1145T>C p.I382T Substitution - Missense 2:238145827-238145827 + BCM543T COSM4955415 c.65G>A p.G22D Substitution - Missense 2:238140819-238140819 + TCGA-AH-6644-01 COSM3749646 c.747G>A p.R249R Substitution - coding silent 2:238141501-238141501 + 2492708 COSM5718357 c.1125C>T p.L375L Substitution - coding silent 2:238145807-238145807 + TCGA-HT-7609-01 COSM3972133 c.1532T>C p.L511P Substitution - Missense 2:238150860-238150860 + HCA7 COSM4630744 c.1548C>T p.Y516Y Substitution - coding silent 2:238150876-238150876 + TCGA-GN-A26C-01 COSM3909964 c.345C>T p.F115F Substitution - coding silent 2:238141099-238141099 + YUPAER COSM5396590 c.1076C>T p.P359L Substitution - Missense 2:238145758-238145758 + BCM543T COSM4955415 c.65G>A p.G22D Substitution - Missense 2:238140819-238140819 + SNUH_G16_S1 COSM4001581 c.217C>T p.R73C Substitution - Missense 2:238140971-238140971 + TCGA-DC-6157-01 COSM1565652 c.424G>A p.G142R Substitution - Missense 2:238141178-238141178 + TCGA-F4-6463-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + WSU-HN6 COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + TCGA-AH-6644-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-D1-A103-01 COSM1018524 c.1082C>T p.A361V Substitution - Missense 2:238145764-238145764 + SNU-C4 COSM4653489 c.447C>T p.G149G Substitution - coding silent 2:238141201-238141201 + TCGA-DM-A1D6-01 COSM1406708 c.1361C>T p.S454L Substitution - Missense 2:238149028-238149028 + TCGA-CC-A5UE-01 COSM4933934 c.1107C>A p.N369K Substitution - Missense 2:238145789-238145789 + TCGA-BH-A0B6-01 COSM3839010 c.1510G>A p.E504K Substitution - Missense 2:238150838-238150838 + TCGA-A6-5656-01 COSM1406703 c.93G>C p.K31N Substitution - Missense 2:238140847-238140847 + TCGA-B5-A11H-01 COSM1018526 c.1119G>T p.A373A Substitution - coding silent 2:238145801-238145801 + LIM1215 COSM4639506 c.1267C>T p.R423W Substitution - Missense 2:238147950-238147950 + S00472 COSM5657814 c.291C>A p.T97T Substitution - coding silent 2:238141045-238141045 + TCGA-B5-A11H-01 COSM1018527 c.1119G>T p.A373A Substitution - coding silent 2:238145801-238145801 + TCGA-AG-4021-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + BCM543T COSM4955416 c.65G>A p.G22D Substitution - Missense 2:238140819-238140819 + TCGA-AH-6644-01 COSM3749645 c.747G>A p.R249R Substitution - coding silent 2:238141501-238141501 + SNU-C4 COSM4653491 c.658A>G p.S220G Substitution - Missense 2:238141412-238141412 + TCGA-E1-5318-01 COSM3972132 c.850G>A p.A284T Substitution - Missense 2:238142874-238142874 + 587278 COSM1212639 c.604C>T p.R202C Substitution - Missense 2:238141358-238141358 + 3N09-VS-3T09 COSM4979236 c.283C>T p.R95W Substitution - Missense 2:238141037-238141037 + LIM1215 COSM4639503 c.762G>T p.Q254H Substitution - Missense 2:238141516-238141516 + 3_PRE-TREATMENT COSM1723585 c.1217G>A p.S406N Substitution - Missense 2:238147900-238147900 + TCGA-EE-A3AH-06 COSM1531256 c.1425C>T p.L475L Substitution - coding silent 2:238149092-238149092 + PTC-54C COSM4133586 c.216G>A p.A72A Substitution - coding silent 2:238140970-238140970 + TCGA-BH-A0B6-01 COSM3839009 c.1510G>A p.E504K Substitution - Missense 2:238150838-238150838 + CHC320T COSM442581 c.885T>C p.F295F Substitution - coding silent 2:238142909-238142909 + TCGA-AH-6644-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + T2417 COSM4696521 c.235G>A p.V79M Substitution - Missense 2:238140989-238140989 + SNU-C2B COSM4651455 c.637G>A p.A213T Substitution - Missense 2:238141391-238141391 + 2492726 COSM5724685 c.1459G>A p.D487N Substitution - Missense 2:238149126-238149126 + TCGA-BH-A18P-01 COSM442582 c.1340-1G>A p.? Unknown 2:238149006-238149006 + SNU-C4 COSM4653490 c.447C>T p.G149G Substitution - coding silent 2:238141201-238141201 + 2492724 COSM5724685 c.1459G>A p.D487N Substitution - Missense 2:238149126-238149126 + HCT15 COSM4632884 c.554G>A p.G185D Substitution - Missense 2:238141308-238141308 + LIM1215 COSM4639505 c.1267C>T p.R423W Substitution - Missense 2:238147950-238147950 + 3_RESISTANT COSM1723585 c.1217G>A p.S406N Substitution - Missense 2:238147900-238147900 + TCGA-G4-6321-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + BCB307T COSM4955843 c.99C>T p.A33A Substitution - coding silent 2:238140853-238140853 + TCGA-AF-2687-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + T36 COSM5344132 c.1221G>A p.P407P Substitution - coding silent 2:238147904-238147904 + BD138T COSM5507098 c.1557C>A p.G519G Substitution - coding silent 2:238150885-238150885 + TCGA-32-4719-01 COSM3407729 c.199G>A p.A67T Substitution - Missense 2:238140953-238140953 + PD8617a COSM5769253 c.929A>T p.D310V Substitution - Missense 2:238144923-238144923 + TCGA-E1-5318-01 COSM3972131 c.850G>A p.A284T Substitution - Missense 2:238142874-238142874 + B COSM1741612 c.212C>T p.S71F Substitution - Missense 2:238140966-238140966 + UM-SCC-2 COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + HCT8 COSM4634788 c.376C>A p.L126M Substitution - Missense 2:238141130-238141130 + TCGA-AD-5900-01 COSM3695369 c.333G>A p.A111A Substitution - coding silent 2:238141087-238141087 + PCSI_0090_Pa_P COSM3380098 c.542C>T p.T181I Substitution - Missense 2:238141296-238141296 + TCGA-AG-4021-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + 2492720 COSM5533473 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + 2492710 COSM5718356 c.1125C>T p.L375L Substitution - coding silent 2:238145807-238145807 + TCGA-AP-A0LM-01 COSM442578 c.219C>T p.R73R Substitution - coding silent 2:238140973-238140973 + NOKSI COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + TCGA-F5-6702-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AA-3697-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + D28 COSM5545201 c.1474C>T p.L492L Substitution - coding silent 2:238149141-238149141 + 587256 COSM1212641 c.70C>T p.Q24* Substitution - Nonsense 2:238140824-238140824 + TCGA-EE-A2MD-06 COSM3579750 c.513C>T p.F171F Substitution - coding silent 2:238141267-238141267 + NOKSI COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + TCGA-AZ-6598-01 COSM1406707 c.247G>A p.V83M Substitution - Missense 2:238141001-238141001 + HCC3T COSM1614592 c.908-2A>T p.? Unknown 2:238144900-238144900 + 188 COSM1741612 c.212C>T p.S71F Substitution - Missense 2:238140966-238140966 + TCGA-ES-A2HS-01 COSM4910307 c.1250C>T p.A417V Substitution - Missense 2:238147933-238147933 + YURAY COSM5396589 c.198C>T p.F66F Substitution - coding silent 2:238140952-238140952 + 2492709 COSM5718356 c.1125C>T p.L375L Substitution - coding silent 2:238145807-238145807 + SC_9008 COSM5566033 c.124C>T p.R42W Substitution - Missense 2:238140878-238140878 + TCGA-AA-3713-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-D1-A103-01 COSM1018529 c.1153A>G p.T385A Substitution - Missense 2:238147836-238147836 + TCGA-EE-A3AH-06 COSM1531257 c.1425C>T p.L475L Substitution - coding silent 2:238149092-238149092 + PCSI_0090_Pa_X COSM3380099 c.542C>T p.T181I Substitution - Missense 2:238141296-238141296 + T36 COSM5344133 c.1221G>A p.P407P Substitution - coding silent 2:238147904-238147904 + TCGA-DD-A1E9-01 COSM4912422 c.166C>T p.P56S Substitution - Missense 2:238140920-238140920 + TCGA-HT-7609-01 COSM3972134 c.1532T>C p.L511P Substitution - Missense 2:238150860-238150860 + XHDG21 COSM4768905 c.1389G>A p.S463S Substitution - coding silent 2:238149056-238149056 + ICGC_PA46 COSM3670262 c.613C>T p.R205C Substitution - Missense 2:238141367-238141367 + CHC892T COSM4795733 c.1071G>A p.W357* Substitution - Nonsense 2:238145753-238145753 + PDA_037 COSM4999975 c.1394G>A p.R465H Substitution - Missense 2:238149061-238149061 + CHC892T COSM4795732 c.1071G>A p.W357* Substitution - Nonsense 2:238145753-238145753 + 188 COSM1741611 c.212C>T p.S71F Substitution - Missense 2:238140966-238140966 + TCGA-HC-A6HY-01 COSM4391894 c.247G>C p.V83L Substitution - Missense 2:238141001-238141001 + SCC-15 COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + HCC022T COSM5817758 c.431A>G p.Q144R Substitution - Missense 2:238141185-238141185 + TCGA-A6-5656-01 COSM1406702 c.93G>C p.K31N Substitution - Missense 2:238140847-238140847 + TCGA-AD-5900-01 COSM3695370 c.333G>A p.A111A Substitution - coding silent 2:238141087-238141087 + 2492722 COSM5533474 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + CSCC-31-T COSM4513314 c.933C>T p.F311F Substitution - coding silent 2:238144927-238144927 + TCGA-AG-4022-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + 2492725 COSM5724686 c.1459G>A p.D487N Substitution - Missense 2:238149126-238149126 + TCGA-G4-6321-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AA-3697-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + T1 COSM5344131 c.1208C>T p.T403M Substitution - Missense 2:238147891-238147891 + 2492721 COSM5533473 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + CSCC-20-T COSM4559733 c.816G>T p.V272V Substitution - coding silent 2:238142840-238142840 + PTC-53C COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-BM-6198-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + SNU-175 COSM3052051 c.1149C>T p.G383G Substitution - coding silent 2:238145831-238145831 + NCI-H747 COSM3052063 c.1255G>A p.G419S Substitution - Missense 2:238147938-238147938 + T3724 COSM4653491 c.658A>G p.S220G Substitution - Missense 2:238141412-238141412 + TCGA-CM-6163-01 COSM1406712 c.1519G>A p.A507T Substitution - Missense 2:238150847-238150847 + PCSI_0305_Pa_P_526 COSM3782155 c.244G>A p.A82T Substitution - Missense 2:238140998-238140998 + WSU-HN6 COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + HCA7 COSM4630743 c.1548C>T p.Y516Y Substitution - coding silent 2:238150876-238150876 + LIM1215 COSM4639504 c.762G>T p.Q254H Substitution - Missense 2:238141516-238141516 + YUPAER COSM5396591 c.1076C>T p.P359L Substitution - Missense 2:238145758-238145758 + C086 COSM5533473 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + BHY COSM4592052 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + CHEWS008 COSM4583351 c.507C>T p.D169D Substitution - coding silent 2:238141261-238141261 + WT053 COSM442580 c.885T>C p.F295F Substitution - coding silent 2:238142909-238142909 + CCK81 COSM1406705 c.218G>A p.R73H Substitution - Missense 2:238140972-238140972 + PTC-53C COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + LP6007520-DNA_A01 COSM4413129 c.887C>T p.A296V Substitution - Missense 2:238142911-238142911 + TCGA-BH-A0BF-01 COSM442585 c.1377G>T p.K459N Substitution - Missense 2:238149044-238149044 + LP6007520-DNA_A01 COSM4413130 c.887C>T p.A296V Substitution - Missense 2:238142911-238142911 + CLL121 COSM1291473 c.424G>T p.G142W Substitution - Missense 2:238141178-238141178 + TCGA-CK-5916-01 COSM1406716 c.1717G>A p.G573S Substitution - Missense 2:238151045-238151045 + TCGA-BR-8680-01 COSM4092733 c.423C>T p.F141F Substitution - coding silent 2:238141177-238141177 + LIM1215 COSM4639502 c.369C>T p.G123G Substitution - coding silent 2:238141123-238141123 + TCGA-FD-A3N5-01 COSM1306591 c.1145T>C p.I382T Substitution - Missense 2:238145827-238145827 + TCGA-E2-A1B4-01 COSM442579 c.219C>T p.R73R Substitution - coding silent 2:238140973-238140973 + 0094_CRUK_PC_0094_T1_DNA COSM4420074 c.1591G>A p.V531M Substitution - Missense 2:238150919-238150919 + S02294 COSM5688821 c.1356C>A p.I452I Substitution - coding silent 2:238149023-238149023 + ESCC_10 COSM4413130 c.887C>T p.A296V Substitution - Missense 2:238142911-238142911 + ESO-721 COSM1255977 c.307G>A p.V103M Substitution - Missense 2:238141061-238141061 + TCGA-D5-6930-01 COSM1406701 c.73C>T p.R25C Substitution - Missense 2:238140827-238140827 + TCGA-AZ-6598-01 COSM1406711 c.1465G>A p.G489R Substitution - Missense 2:238149132-238149132 + SC_9007 COSM5549674 c.1118C>T p.A373V Substitution - Missense 2:238145800-238145800 + TCGA-CK-5916-01 COSM1406717 c.1717G>A p.G573S Substitution - Missense 2:238151045-238151045 + TCGA-DM-A1D6-01 COSM1406709 c.1361C>T p.S454L Substitution - Missense 2:238149028-238149028 + TCGA-HC-A6HY-01 COSM4391893 c.247G>C p.V83L Substitution - Missense 2:238141001-238141001 + CoCM-1 COSM3052079 c.1427T>C p.I476T Substitution - Missense 2:238149094-238149094 + TCGA-GN-A26C-01 COSM3909963 c.345C>T p.F115F Substitution - coding silent 2:238141099-238141099 + YURAY COSM5396588 c.198C>T p.F66F Substitution - coding silent 2:238140952-238140952 + 587282 COSM1212637 c.1681G>A p.V561I Substitution - Missense 2:238151009-238151009 + PTC-54C COSM4133587 c.1035C>T p.T345T Substitution - coding silent 2:238145717-238145717 + BCM543T COSM4955416 c.65G>A p.G22D Substitution - Missense 2:238140819-238140819 + UPCI:SCC090 COSM4592051 c.1630A>C p.T544P Substitution - Missense 2:238150958-238150958 + TCGA-G4-6302-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + 2334201 COSM321282 c.1485G>T p.K495N Substitution - Missense 2:238149152-238149152 + B COSM1741611 c.212C>T p.S71F Substitution - Missense 2:238140966-238140966 + HCC022T COSM5817757 c.431A>G p.Q144R Substitution - Missense 2:238141185-238141185 + S02294 COSM5688820 c.1356C>A p.I452I Substitution - coding silent 2:238149023-238149023 + TCGA-AM-5821-01 COSM3758090 c.1515T>C p.N505N Substitution - coding silent 2:238150843-238150843 + TCGA-F4-6463-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AM-5821-01 COSM442576 c.207C>T p.S69S Substitution - coding silent 2:238140961-238140961 + TCGA-DD-A1E9-01 COSM4912421 c.166C>T p.P56S Substitution - Missense 2:238140920-238140920 + PTC-54C COSM4133585 c.216G>A p.A72A Substitution - coding silent 2:238140970-238140970 + TCGA-AY-6196-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AF-2687-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-G4-6302-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-FG-7636-01 COSM3972130 c.645G>A p.L215L Substitution - coding silent 2:238141399-238141399 + TCGA-AP-A0LM-01 COSM442579 c.219C>T p.R73R Substitution - coding silent 2:238140973-238140973 + TCGA-AA-3712-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-BM-6198-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + SC_9007 COSM5549675 c.1118C>T p.A373V Substitution - Missense 2:238145800-238145800 + TCGA-AM-5821-01 COSM3758089 c.1515T>C p.N505N Substitution - coding silent 2:238150843-238150843 + TCGA-AG-4022-01 COSM3749644 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + TCGA-AZ-6598-01 COSM1406706 c.247G>A p.V83M Substitution - Missense 2:238141001-238141001 + TCGA-EE-A3J8-06 COSM3579754 c.1578A>T p.E526D Substitution - Missense 2:238150906-238150906 + TCGA-ES-A2HS-01 COSM4910308 c.1250C>T p.A417V Substitution - Missense 2:238147933-238147933 + HCC3 COSM1614592 c.908-2A>T p.? Unknown 2:238144900-238144900 + TCGA-AA-3662-01 COSM3749643 c.638C>T p.A213V Substitution - Missense 2:238141392-238141392 + LUAD-5V8LT COSM402184 c.970C>A p.L324M Substitution - Missense 2:238144964-238144964 + TCGA-BH-A18P-01 COSM442583 c.1340-1G>A p.? Unknown 2:238149006-238149006 + TCGA-AZ-4315-01 COSM1406704 c.218G>A p.R73H Substitution - Missense 2:238140972-238140972 + TCGA-CC-A5UE-01 COSM4933933 c.1107C>A p.N369K Substitution - Missense 2:238145789-238145789 + 2492722 COSM5533473 c.1609G>A p.D537N Substitution - Missense 2:238150937-238150937 + ESO-721 COSM1255978 c.307G>A p.V103M Substitution - Missense 2:238141061-238141061 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591595 2q37.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.E526D c.1578A>T 2 239059547 CM C T Missense p.R205C c.613C>T 2 239050008 PIA C T Missense p.R551W c.1651C>T 2 239059620 STAD C T Missense p.S454L c.1361C>T 2 239057669 CM C T Missense p.T386I c.1157C>T 2 239056481 HNSC C T Synonymous p.D388D c.1164C>T 2 239056488 LUAD C T Synonymous p.F115F c.345C>T 2 239049740 CM C T Synonymous p.F171F c.513C>T 2 239049908 CM C T Synonymous p.F90F c.270C>T 2 239049665 CM C T Synonymous p.L475L c.1425C>T 2 239057733 CM C T Synonymous p.R73R c.219C>T 2 239049614 BRCA C T Synonymous p.S572S c.1716C>T 2 239059685 ESCA G A Missense p.A284T c.850G>A 2 239051515 LGG G A Missense p.A67T c.199G>A 2 239049594 GBM G A Missense p.S501N c.1502G>A 2 239059471 LUAD G A Missense p.V103M c.307G>A 2 239049702 ESCA G A Synonymous p.L215L c.645G>A 2 239050040 LGG G C Missense p.V83L c.247G>C 2 239049642 PRAD G T Missense p.D34Y c.100G>T 2 239049495 LUAD G T Missense p.G142W c.424G>T 2 239049819 CLL G T Missense p.K459N c.1377G>T 2 239057685 BRCA G T Missense p.K495N c.1485G>T 2 239057793 SCLC G T Missense p.R42L c.125G>T 2 239049520 CM G T Synonymous p.A373A c.1119G>T 2 239054442 UCEC T C Missense p.I382T c.1145T>C 2 239054468 BLCA T C Missense p.L511P c.1532T>C 2 239059501 LGG