Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 196612094 196612094 + Silent SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr3:196612094C>T c.42C>T c.(40-42)caC>caT p.H14H BLCA 3 196612107 196612107 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr3:196612107G>C c.55G>C c.(55-57)Gag>Cag p.E19Q BLCA 3 196612556 196612556 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr3:196612556G>A c.504G>A c.(502-504)atG>atA p.M168I BLCA 3 196612627 196612627 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:196612627G>T c.575G>T c.(574-576)aGa>aTa p.R192I BLCA 3 196613169 196613169 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr3:196613169C>T c.1117C>T c.(1117-1119)Cat>Tat p.H373Y BLCA 3 196613274 196613274 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr3:196613274G>A c.1222G>A c.(1222-1224)Gat>Aat p.D408N BLCA 3 196627284 196627284 + Splice_Site SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr3:196627284G>A c.e5+1 BLCA 3 196650364 196650364 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr3:196650364C>G c.1964C>G c.(1963-1965)tCt>tGt p.S655C BRCA 3 196613257 196613257 + Missense_Mutation SNP A A C TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr3:196613257A>C c.1205A>C c.(1204-1206)cAg>cCg p.Q402P CESC 3 196612651 196612651 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr3:196612651G>A c.599G>A c.(598-600)tGc>tAc p.C200Y CESC 3 196613394 196613394 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr3:196613394C>T c.1342C>T c.(1342-1344)Ctc>Ttc p.L448F CHOL 3 196626893 196626893 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr3:196626893A>C c.1718A>C c.(1717-1719)gAc>gCc p.D573A COAD 3 196612455 196612455 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:196612455A>C c.403A>C c.(403-405)Aat>Cat p.N135H COAD 3 196613000 196613000 + Silent SNP G G A TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr3:196613000G>A c.948G>A c.(946-948)gtG>gtA p.V316V COAD 3 196613174 196613174 + Missense_Mutation SNP C C G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:196613174C>G c.1122C>G c.(1120-1122)gaC>gaG p.D374E COAD 3 196613266 196613266 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:196613266C>A c.1214C>A c.(1213-1215)tCt>tAt p.S405Y COAD 3 196613324 196613324 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:196613324C>T c.1272C>T c.(1270-1272)agC>agT p.S424S COAD 3 196613404 196613404 + Missense_Mutation SNP G G T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:196613404G>T c.1352G>T c.(1351-1353)aGc>aTc p.S451I COAD 3 196613508 196613508 + Missense_Mutation SNP A A G TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr3:196613508A>G c.1456A>G c.(1456-1458)Aag>Gag p.K486E COAD 3 196613509 196613509 + Missense_Mutation SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr3:196613509A>G c.1457A>G c.(1456-1458)aAg>aGg p.K486R COAD 3 196626607 196626607 + Silent SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:196626607A>G c.1584A>G c.(1582-1584)agA>agG p.R528R COAD 3 196626842 196626842 + Frame_Shift_Del DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:196626842delA c.1667delA c.(1666-1668)caafs p.Q556fs COAD 3 196626861 196626861 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr3:196626861C>T c.1686C>T c.(1684-1686)atC>atT p.I562I COAD 3 196626899 196626899 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:196626899C>T c.1724C>T c.(1723-1725)gCg>gTg p.A575V COAD 3 196630449 196630449 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:196630449G>T c.1852G>T c.(1852-1854)Gga>Tga p.G618* COADREAD 3 196612055 196612056 + Start_Codon_Ins INS - - A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:196612055_196612056insA COADREAD 3 196612407 196612407 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196612407C>A c.355C>A c.(355-357)Ctg>Atg p.L119M COADREAD 3 196612455 196612455 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:196612455A>C c.403A>C c.(403-405)Aat>Cat p.N135H COADREAD 3 196613000 196613000 + Silent SNP G G A TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr3:196613000G>A c.948G>A c.(946-948)gtG>gtA p.V316V COADREAD 3 196613174 196613174 + Missense_Mutation SNP C C G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:196613174C>G c.1122C>G c.(1120-1122)gaC>gaG p.D374E COADREAD 3 196613266 196613266 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:196613266C>A c.1214C>A c.(1213-1215)tCt>tAt p.S405Y COADREAD 3 196613324 196613324 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:196613324C>T c.1272C>T c.(1270-1272)agC>agT p.S424S COADREAD 3 196613404 196613404 + Missense_Mutation SNP G G T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:196613404G>T c.1352G>T c.(1351-1353)aGc>aTc p.S451I COADREAD 3 196613508 196613508 + Missense_Mutation SNP A A G TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr3:196613508A>G c.1456A>G c.(1456-1458)Aag>Gag p.K486E COADREAD 3 196613509 196613509 + Missense_Mutation SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr3:196613509A>G c.1457A>G c.(1456-1458)aAg>aGg p.K486R COADREAD 3 196626607 196626607 + Silent SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:196626607A>G c.1584A>G c.(1582-1584)agA>agG p.R528R COADREAD 3 196626619 196626619 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196626619C>A c.1596C>A c.(1594-1596)gtC>gtA p.V532V COADREAD 3 196626842 196626842 + Frame_Shift_Del DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:196626842delA c.1667delA c.(1666-1668)caafs p.Q556fs COADREAD 3 196626861 196626861 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr3:196626861C>T c.1686C>T c.(1684-1686)atC>atT p.I562I COADREAD 3 196626899 196626899 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:196626899C>T c.1724C>T c.(1723-1725)gCg>gTg p.A575V COADREAD 3 196630449 196630449 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:196630449G>T c.1852G>T c.(1852-1854)Gga>Tga p.G618* DLBC 3 196612959 196612959 + Missense_Mutation SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr3:196612959C>T c.907C>T c.(907-909)Cat>Tat p.H303Y ESCA 3 196613470 196613470 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:196613470G>T c.1418G>T c.(1417-1419)tGc>tTc p.C473F GBM 3 196613120 196613120 + Nonsense_Mutation SNP G G A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 g.chr3:196613120G>A c.1068G>A c.(1066-1068)tgG>tgA p.W356* GBMLGG 3 196613120 196613120 + Nonsense_Mutation SNP G G A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 g.chr3:196613120G>A c.1068G>A c.(1066-1068)tgG>tgA p.W356* GBMLGG 3 196654715 196654715 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr3:196654715G>A c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K HNSC 3 196612189 196612189 + Missense_Mutation SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 g.chr3:196612189G>A c.137G>A c.(136-138)aGg>aAg p.R46K HNSC 3 196612250 196612250 + Missense_Mutation SNP C C G TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr3:196612250C>G c.198C>G c.(196-198)atC>atG p.I66M HNSC 3 196612534 196612534 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr3:196612534C>T c.482C>T c.(481-483)cCa>cTa p.P161L HNSC 3 196626904 196626904 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr3:196626904C>G c.1729C>G c.(1729-1731)Ctg>Gtg p.L577V HNSC 3 196650379 196650379 + Nonsense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr3:196650379C>G c.1979C>G c.(1978-1980)tCa>tGa p.S660* HNSC 3 196650417 196650417 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr3:196650417G>A c.2017G>A c.(2017-2019)Gta>Ata p.V673I HNSC 3 196656542 196656542 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr3:196656542C>G c.2145C>G c.(2143-2145)gtC>gtG p.V715V HNSC 3 196657755 196657755 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr3:196657755G>C c.2229G>C c.(2227-2229)agG>agC p.R743S KICH 3 196613140 196613142 + In_Frame_Del DEL CTC CTC - TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr3:196613140_196613142delCTC c.1088_1090delCTC c.(1087-1092)tctcct>tct p.P364del KICH 3 196613141 196613143 + In_Frame_Del DEL CTC CTC - TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr3:196613141_196613143delCTC c.1089_1091delCTC c.(1087-1092)tcctct>tct p.363_364SS>S KIPAN 3 196612951 196612952 + Frame_Shift_Ins INS - - T TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr3:196612951_196612952insT c.899_900insT c.(898-903)tcttgtfs p.C301fs KIPAN 3 196613001 196613001 + Nonsense_Mutation SNP A A T TCGA-GL-A9DD-01A-11D-A36X-10 TCGA-GL-A9DD-10A-01D-A370-10 g.chr3:196613001A>T c.949A>T c.(949-951)Aag>Tag p.K317* KIPAN 3 196613140 196613142 + In_Frame_Del DEL CTC CTC - TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr3:196613140_196613142delCTC c.1088_1090delCTC c.(1087-1092)tctcct>tct p.P364del KIPAN 3 196613141 196613143 + In_Frame_Del DEL CTC CTC - TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr3:196613141_196613143delCTC c.1089_1091delCTC c.(1087-1092)tcctct>tct p.363_364SS>S KIPAN 3 196650309 196650309 + Missense_Mutation SNP C C G TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr3:196650309C>G c.1909C>G c.(1909-1911)Ctg>Gtg p.L637V KIRC 3 196650309 196650309 + Missense_Mutation SNP C C G TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr3:196650309C>G c.1909C>G c.(1909-1911)Ctg>Gtg p.L637V KIRP 3 196612951 196612952 + Frame_Shift_Ins INS - - T TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr3:196612951_196612952insT c.899_900insT c.(898-903)tcttgtfs p.C301fs KIRP 3 196613001 196613001 + Nonsense_Mutation SNP A A T TCGA-GL-A9DD-01A-11D-A36X-10 TCGA-GL-A9DD-10A-01D-A370-10 g.chr3:196613001A>T c.949A>T c.(949-951)Aag>Tag p.K317* LGG 3 196654715 196654715 + Missense_Mutation SNP G G A TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr3:196654715G>A c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K LIHC 3 196612404 196612404 + Missense_Mutation SNP A A G TCGA-WX-AA47-01A-11D-A38X-10 TCGA-WX-AA47-10A-01D-A38X-10 g.chr3:196612404A>G c.352A>G c.(352-354)Aag>Gag p.K118E LIHC 3 196613318 196613318 + Silent SNP G G T TCGA-2Y-A9GW-01A-11D-A382-10 TCGA-2Y-A9GW-10A-01D-A385-10 g.chr3:196613318G>T c.1266G>T c.(1264-1266)gtG>gtT p.V422V LIHC 3 196626588 196626588 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr3:196626588delA c.1565delA c.(1564-1566)gaafs p.E522fs LUAD 3 196612172 196612172 + Silent SNP G G T TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr3:196612172G>T c.120G>T c.(118-120)ctG>ctT p.L40L LUAD 3 196612328 196612328 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr3:196612328G>T c.276G>T c.(274-276)ttG>ttT p.L92F LUAD 3 196612594 196612594 + Missense_Mutation SNP G G C TCGA-50-5935-01A-11D-1753-08 TCGA-50-5935-11A-01D-1753-08 g.chr3:196612594G>C c.542G>C c.(541-543)gGc>gCc p.G181A LUAD 3 196612677 196612677 + Missense_Mutation SNP G G T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr3:196612677G>T c.625G>T c.(625-627)Ggg>Tgg p.G209W LUAD 3 196613016 196613016 + Missense_Mutation SNP C C T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr3:196613016C>T c.964C>T c.(964-966)Cat>Tat p.H322Y LUAD 3 196626846 196626846 + Missense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 g.chr3:196626846A>T c.1671A>T c.(1669-1671)aaA>aaT p.K557N LUAD 3 196627254 196627254 + Nonsense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr3:196627254G>T c.1777G>T c.(1777-1779)Gag>Tag p.E593* LUAD 3 196630482 196630482 + Splice_Site SNP G G A TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr3:196630482G>A c.e6+1 LUSC 3 196612242 196612242 + Missense_Mutation SNP C C G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr3:196612242C>G c.190C>G c.(190-192)Ctt>Gtt p.L64V LUSC 3 196612846 196612846 + Missense_Mutation SNP G G A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr3:196612846G>A c.794G>A c.(793-795)cGa>cAa p.R265Q LUSC 3 196613059 196613059 + Missense_Mutation SNP A A T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr3:196613059A>T c.1007A>T c.(1006-1008)aAg>aTg p.K336M LUSC 3 196613165 196613165 + Silent SNP G G A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chr3:196613165G>A c.1113G>A c.(1111-1113)ctG>ctA p.L371L LUSC 3 196626831 196626831 + Silent SNP G G T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr3:196626831G>T c.1656G>T c.(1654-1656)cgG>cgT p.R552R LUSC 3 196650360 196650360 + Missense_Mutation SNP C C T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr3:196650360C>T c.1960C>T c.(1960-1962)Ctc>Ttc p.L654F LUSC 3 196654678 196654678 + Missense_Mutation SNP G G T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr3:196654678G>T c.2034G>T c.(2032-2034)aaG>aaT p.K678N LUSC 3 196654687 196654687 + Silent SNP G G A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr3:196654687G>A c.2043G>A c.(2041-2043)ctG>ctA p.L681L PAAD 3 196612958 196612958 + Silent SNP G G A TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr3:196612958G>A c.906G>A c.(904-906)cgG>cgA p.R302R PAAD 3 196613102 196613102 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:196613102C>A c.1050C>A c.(1048-1050)ggC>ggA p.G350G READ 3 196612055 196612056 + Start_Codon_Ins INS - - A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:196612055_196612056insA READ 3 196612407 196612407 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196612407C>A c.355C>A c.(355-357)Ctg>Atg p.L119M READ 3 196626619 196626619 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196626619C>A c.1596C>A c.(1594-1596)gtC>gtA p.V532V SARC 3 196612776 196612776 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:196612776C>T c.724C>T c.(724-726)Cgg>Tgg p.R242W SKCM 3 196612362 196612362 + Missense_Mutation SNP T T C TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:196612362T>C c.310T>C c.(310-312)Ttc>Ctc p.F104L SKCM 3 196612840 196612840 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:196612840C>T c.788C>T c.(787-789)gCc>gTc p.A263V SKCM 3 196612841 196612841 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:196612841C>T c.789C>T c.(787-789)gcC>gcT p.A263A SKCM 3 196613461 196613461 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:196613461C>T c.1409C>T c.(1408-1410)cCc>cTc p.P470L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 196612172 196612172 single base substitution G A intron_variant BLCA-CN 3 196612172 196612172 single base substitution G A synonymous_variant L40L 120G>A BLCA-US 3 196612107 196612107 single base substitution G C intron_variant BLCA-US 3 196612107 196612107 single base substitution G C missense_variant E19Q 55G>C BLCA-US 3 196613169 196613169 single base substitution C T intron_variant BLCA-US 3 196613169 196613169 single base substitution C T missense_variant H373Y 1117C>T BLCA-US 3 196613274 196613274 single base substitution G A intron_variant BLCA-US 3 196613274 196613274 single base substitution G A missense_variant D408N 1222G>A BRCA-EU 3 196590576 196590576 single base substitution C T upstream_gene_variant BRCA-EU 3 196592670 196592670 single base substitution C G upstream_gene_variant BRCA-EU 3 196592749 196592749 single base substitution A T upstream_gene_variant BRCA-EU 3 196593511 196593511 single base substitution C T upstream_gene_variant BRCA-EU 3 196596524 196596524 single base substitution G A intron_variant BRCA-EU 3 196596537 196596537 single base substitution A G intron_variant BRCA-EU 3 196597211 196597211 single base substitution T G intron_variant BRCA-EU 3 196597230 196597230 single base substitution G A intron_variant BRCA-EU 3 196599618 196599618 single base substitution G C intron_variant BRCA-EU 3 196600531 196600531 single base substitution G A intron_variant BRCA-EU 3 196600696 196600696 single base substitution G A intron_variant BRCA-EU 3 196601019 196601019 single base substitution T A intron_variant BRCA-EU 3 196601043 196601043 single base substitution A G intron_variant BRCA-EU 3 196602428 196602428 single base substitution C T intron_variant BRCA-EU 3 196602767 196602767 deletion of <=200bp T - intron_variant BRCA-EU 3 196603994 196603994 single base substitution C G intron_variant BRCA-EU 3 196604533 196604533 single base substitution G A intron_variant BRCA-EU 3 196605216 196605216 single base substitution C G intron_variant BRCA-EU 3 196607387 196607387 single base substitution C G intron_variant BRCA-EU 3 196607415 196607415 single base substitution T C intron_variant BRCA-EU 3 196608890 196608890 single base substitution C G intron_variant BRCA-EU 3 196609316 196609316 single base substitution C T intron_variant BRCA-EU 3 196610376 196610376 single base substitution C T intron_variant BRCA-EU 3 196610385 196610385 single base substitution C T intron_variant BRCA-EU 3 196613297 196613297 single base substitution G T intron_variant BRCA-EU 3 196613297 196613297 single base substitution G T synonymous_variant V415V 1245G>T BRCA-EU 3 196613836 196613836 single base substitution C G intron_variant BRCA-EU 3 196613936 196613936 single base substitution T A intron_variant BRCA-EU 3 196616345 196616345 deletion of <=200bp A - intron_variant BRCA-EU 3 196616412 196616412 single base substitution C G intron_variant BRCA-EU 3 196617244 196617244 single base substitution A G intron_variant BRCA-EU 3 196618468 196618468 single base substitution C T intron_variant BRCA-EU 3 196619520 196619520 single base substitution G T intron_variant BRCA-EU 3 196622760 196622760 single base substitution G C intron_variant BRCA-EU 3 196622760 196622760 single base substitution G C upstream_gene_variant BRCA-EU 3 196622839 196622839 single base substitution G C intron_variant BRCA-EU 3 196622839 196622839 single base substitution G C upstream_gene_variant BRCA-EU 3 196624075 196624075 single base substitution C T intron_variant BRCA-EU 3 196624075 196624075 single base substitution C T upstream_gene_variant BRCA-EU 3 196624224 196624224 single base substitution G C intron_variant BRCA-EU 3 196624224 196624224 single base substitution G C upstream_gene_variant BRCA-EU 3 196624524 196624524 single base substitution C T intron_variant BRCA-EU 3 196624524 196624524 single base substitution C T upstream_gene_variant BRCA-EU 3 196624893 196624893 single base substitution A T intron_variant BRCA-EU 3 196624893 196624893 single base substitution A T upstream_gene_variant BRCA-EU 3 196626518 196626518 single base substitution C G intron_variant BRCA-EU 3 196626518 196626518 single base substitution C G upstream_gene_variant BRCA-EU 3 196626753 196626753 single base substitution C T intron_variant BRCA-EU 3 196626753 196626753 single base substitution C T upstream_gene_variant BRCA-EU 3 196626776 196626776 single base substitution C G intron_variant BRCA-EU 3 196626776 196626776 single base substitution C G upstream_gene_variant BRCA-EU 3 196626807 196626807 single base substitution C G missense_variant I34M 102C>G BRCA-EU 3 196626807 196626807 single base substitution C G missense_variant I544M 1632C>G BRCA-EU 3 196626807 196626807 single base substitution C G upstream_gene_variant BRCA-EU 3 196626954 196626954 single base substitution C T intron_variant BRCA-EU 3 196628260 196628260 deletion of <=200bp A - intron_variant BRCA-EU 3 196629269 196629269 single base substitution C T intron_variant BRCA-EU 3 196631069 196631069 single base substitution G T intron_variant BRCA-EU 3 196631168 196631168 single base substitution T A intron_variant BRCA-EU 3 196631171 196631171 single base substitution C T intron_variant BRCA-EU 3 196632598 196632598 single base substitution C T downstream_gene_variant BRCA-EU 3 196632598 196632598 single base substitution C T intron_variant BRCA-EU 3 196632678 196632678 single base substitution C G downstream_gene_variant BRCA-EU 3 196632678 196632678 single base substitution C G intron_variant BRCA-EU 3 196632867 196632867 single base substitution G C downstream_gene_variant BRCA-EU 3 196632867 196632867 single base substitution G C intron_variant BRCA-EU 3 196635223 196635226 deletion of <=200bp AAAG - downstream_gene_variant BRCA-EU 3 196635223 196635226 deletion of <=200bp AAAG - intron_variant BRCA-EU 3 196635374 196635374 single base substitution T C downstream_gene_variant BRCA-EU 3 196635374 196635374 single base substitution T C intron_variant BRCA-EU 3 196635797 196635797 single base substitution G A downstream_gene_variant BRCA-EU 3 196635797 196635797 single base substitution G A intron_variant BRCA-EU 3 196636277 196636277 single base substitution C T downstream_gene_variant BRCA-EU 3 196636277 196636277 single base substitution C T intron_variant BRCA-EU 3 196636506 196636506 single base substitution A C downstream_gene_variant BRCA-EU 3 196636506 196636506 single base substitution A C intron_variant BRCA-EU 3 196636513 196636513 single base substitution C T downstream_gene_variant BRCA-EU 3 196636513 196636513 single base substitution C T intron_variant BRCA-EU 3 196636865 196636865 single base substitution G C downstream_gene_variant BRCA-EU 3 196636865 196636865 single base substitution G C intron_variant BRCA-EU 3 196637319 196637319 single base substitution G C intron_variant BRCA-EU 3 196638606 196638606 single base substitution G C intron_variant BRCA-EU 3 196638614 196638614 single base substitution G C intron_variant BRCA-EU 3 196639375 196639375 single base substitution C T intron_variant BRCA-EU 3 196639576 196639576 single base substitution G C intron_variant BRCA-EU 3 196640166 196640166 single base substitution A T intron_variant BRCA-EU 3 196642855 196642855 single base substitution C G intron_variant BRCA-EU 3 196643333 196643333 single base substitution G C intron_variant BRCA-EU 3 196643356 196643356 single base substitution G A intron_variant BRCA-EU 3 196643543 196643543 single base substitution C T intron_variant BRCA-EU 3 196644244 196644245 deletion of <=200bp AG - intron_variant BRCA-EU 3 196646349 196646349 single base substitution C G intron_variant BRCA-EU 3 196646349 196646349 single base substitution C G upstream_gene_variant BRCA-EU 3 196646431 196646431 single base substitution G A intron_variant BRCA-EU 3 196646431 196646431 single base substitution G A upstream_gene_variant BRCA-EU 3 196646664 196646664 single base substitution C G intron_variant BRCA-EU 3 196646664 196646664 single base substitution C G upstream_gene_variant BRCA-EU 3 196649798 196649798 deletion of <=200bp T - intron_variant BRCA-EU 3 196649798 196649798 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 196649820 196649820 single base substitution C T intron_variant BRCA-EU 3 196649820 196649820 single base substitution C T upstream_gene_variant BRCA-EU 3 196650184 196650184 single base substitution G A intron_variant BRCA-EU 3 196650184 196650184 single base substitution G A upstream_gene_variant BRCA-EU 3 196650772 196650772 single base substitution T C intron_variant BRCA-EU 3 196650772 196650772 single base substitution T C upstream_gene_variant BRCA-EU 3 196651896 196651896 single base substitution G T intron_variant BRCA-EU 3 196651896 196651896 single base substitution G T upstream_gene_variant BRCA-EU 3 196655961 196655961 single base substitution G A intron_variant BRCA-EU 3 196655961 196655961 single base substitution G A upstream_gene_variant BRCA-EU 3 196656863 196656863 single base substitution A T intron_variant BRCA-EU 3 196656864 196656864 single base substitution A T intron_variant BRCA-EU 3 196656865 196656865 single base substitution A T intron_variant BRCA-EU 3 196659878 196659878 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 196659878 196659878 single base substitution G T downstream_gene_variant BRCA-EU 3 196660198 196660198 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 196660198 196660198 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 196660405 196660405 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 196660405 196660405 single base substitution G A downstream_gene_variant BRCA-EU 3 196661572 196661572 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 196661572 196661572 single base substitution A G downstream_gene_variant BRCA-EU 3 196662046 196662046 single base substitution C T downstream_gene_variant BRCA-EU 3 196663049 196663049 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 196663331 196663331 single base substitution G C downstream_gene_variant BRCA-EU 3 196664471 196664471 single base substitution C G downstream_gene_variant BRCA-FR 3 196593511 196593511 single base substitution C T upstream_gene_variant BRCA-FR 3 196601043 196601043 single base substitution A G intron_variant BRCA-FR 3 196606919 196606919 single base substitution T C intron_variant BRCA-FR 3 196607505 196607505 single base substitution T C intron_variant BRCA-FR 3 196616412 196616412 single base substitution C G intron_variant BRCA-FR 3 196618468 196618468 single base substitution C T intron_variant BRCA-FR 3 196624524 196624524 single base substitution C T intron_variant BRCA-FR 3 196624524 196624524 single base substitution C T upstream_gene_variant BRCA-FR 3 196626776 196626776 single base substitution C G intron_variant BRCA-FR 3 196626776 196626776 single base substitution C G upstream_gene_variant BRCA-FR 3 196626954 196626954 single base substitution C T intron_variant BRCA-FR 3 196638614 196638614 single base substitution G C intron_variant BRCA-FR 3 196662046 196662046 single base substitution C T downstream_gene_variant BRCA-UK 3 196627843 196627843 single base substitution C T intron_variant BRCA-UK 3 196637584 196637584 single base substitution G C intron_variant BRCA-UK 3 196648461 196648461 single base substitution G A intron_variant BRCA-UK 3 196648461 196648461 single base substitution G A upstream_gene_variant BRCA-UK 3 196648475 196648475 single base substitution G C intron_variant BRCA-UK 3 196648475 196648475 single base substitution G C upstream_gene_variant BRCA-UK 3 196665930 196665930 single base substitution G A downstream_gene_variant BRCA-US 3 196613257 196613257 single base substitution A C intron_variant BRCA-US 3 196613257 196613257 single base substitution A C missense_variant Q402P 1205A>C BRCA-US 3 196663913 196663913 single base substitution C G downstream_gene_variant BRCA-US 3 196664216 196664216 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 196626756 196626756 single base substitution G T intron_variant BTCA-JP 3 196626756 196626756 single base substitution G T upstream_gene_variant BTCA-JP 3 196664491 196664491 single base substitution C T downstream_gene_variant CESC-US 3 196612055 196612055 single base substitution G C intron_variant CESC-US 3 196612055 196612055 single base substitution G C start_lost M1I 3G>C CESC-US 3 196612651 196612651 single base substitution G A intron_variant CESC-US 3 196612651 196612651 single base substitution G A missense_variant C200Y 599G>A CESC-US 3 196613394 196613394 single base substitution C T intron_variant CESC-US 3 196613394 196613394 single base substitution C T missense_variant L448F 1342C>T CLLE-ES 3 196591760 196591760 single base substitution T A upstream_gene_variant CLLE-ES 3 196591829 196591829 single base substitution C T upstream_gene_variant CLLE-ES 3 196612352 196612352 single base substitution C T intron_variant CLLE-ES 3 196612352 196612352 single base substitution C T synonymous_variant D100D 300C>T CLLE-ES 3 196622503 196622503 single base substitution C G intron_variant CLLE-ES 3 196622503 196622503 single base substitution C G upstream_gene_variant CLLE-ES 3 196636335 196636335 single base substitution A G downstream_gene_variant CLLE-ES 3 196636335 196636335 single base substitution A G intron_variant CLLE-ES 3 196636451 196636451 single base substitution A G downstream_gene_variant CLLE-ES 3 196636451 196636451 single base substitution A G intron_variant CLLE-ES 3 196646434 196646434 single base substitution G A intron_variant CLLE-ES 3 196646434 196646434 single base substitution G A upstream_gene_variant CLLE-ES 3 196664391 196664391 single base substitution G T downstream_gene_variant COAD-US 3 196612193 196612193 single base substitution A G intron_variant COAD-US 3 196612193 196612193 single base substitution A G synonymous_variant P47P 141A>G COAD-US 3 196612300 196612300 single base substitution A G intron_variant COAD-US 3 196612300 196612300 single base substitution A G missense_variant N83S 248A>G COAD-US 3 196613324 196613324 single base substitution C T intron_variant COAD-US 3 196613324 196613324 single base substitution C T synonymous_variant S424S 1272C>T COAD-US 3 196626607 196626607 single base substitution A G synonymous_variant R18R 54A>G COAD-US 3 196626607 196626607 single base substitution A G synonymous_variant R528R 1584A>G COAD-US 3 196626607 196626607 single base substitution A G upstream_gene_variant COAD-US 3 196626842 196626842 deletion of <=200bp A - frameshift_variant Q46 COAD-US 3 196626842 196626842 deletion of <=200bp A - frameshift_variant Q556 COAD-US 3 196626842 196626842 deletion of <=200bp A - upstream_gene_variant COAD-US 3 196630449 196630449 single base substitution G T exon_variant COAD-US 3 196630449 196630449 single base substitution G T stop_gained G108* 322G>T COAD-US 3 196630449 196630449 single base substitution G T stop_gained G618* 1852G>T COAD-US 3 196663898 196663898 single base substitution A G downstream_gene_variant COCA-CN 3 196612754 196612754 single base substitution G T intron_variant COCA-CN 3 196612754 196612754 single base substitution G T missense_variant E234D 702G>T COCA-CN 3 196612770 196612770 single base substitution A G intron_variant COCA-CN 3 196612770 196612770 single base substitution A G missense_variant R240G 718A>G COCA-CN 3 196612776 196612776 single base substitution C T intron_variant COCA-CN 3 196612776 196612776 single base substitution C T missense_variant R242W 724C>T COCA-CN 3 196625655 196625655 single base substitution A T intron_variant COCA-CN 3 196625655 196625655 single base substitution A T upstream_gene_variant COCA-CN 3 196625665 196625665 single base substitution A G intron_variant COCA-CN 3 196625665 196625665 single base substitution A G upstream_gene_variant COCA-CN 3 196625668 196625668 single base substitution A G intron_variant COCA-CN 3 196625668 196625668 single base substitution A G upstream_gene_variant COCA-CN 3 196625689 196625689 single base substitution C G intron_variant COCA-CN 3 196625689 196625689 single base substitution C G upstream_gene_variant COCA-CN 3 196625700 196625700 single base substitution T G intron_variant COCA-CN 3 196625700 196625700 single base substitution T G upstream_gene_variant COCA-CN 3 196625715 196625715 single base substitution G C intron_variant COCA-CN 3 196625715 196625715 single base substitution G C upstream_gene_variant COCA-CN 3 196625733 196625733 single base substitution C T intron_variant COCA-CN 3 196625733 196625733 single base substitution C T upstream_gene_variant COCA-CN 3 196626637 196626637 single base substitution T G synonymous_variant S28S 84T>G COCA-CN 3 196626637 196626637 single base substitution T G synonymous_variant S538S 1614T>G COCA-CN 3 196626637 196626637 single base substitution T G upstream_gene_variant COCA-CN 3 196664395 196664395 single base substitution G A downstream_gene_variant EOPC-DE 3 196615976 196615976 single base substitution G T intron_variant EOPC-DE 3 196622951 196622951 single base substitution T C intron_variant EOPC-DE 3 196622951 196622951 single base substitution T C upstream_gene_variant ESAD-UK 3 196590504 196590504 single base substitution A C upstream_gene_variant ESAD-UK 3 196591694 196591694 single base substitution C T upstream_gene_variant ESAD-UK 3 196593694 196593694 single base substitution T G upstream_gene_variant ESAD-UK 3 196595437 196595437 single base substitution C T intron_variant ESAD-UK 3 196604416 196604416 insertion of <=200bp - T intron_variant ESAD-UK 3 196605818 196605818 single base substitution G C intron_variant ESAD-UK 3 196607428 196607428 single base substitution C T intron_variant ESAD-UK 3 196609875 196609875 single base substitution A G intron_variant ESAD-UK 3 196614033 196614033 single base substitution T A intron_variant ESAD-UK 3 196615470 196615470 deletion of <=200bp A - intron_variant ESAD-UK 3 196618431 196618431 single base substitution G A intron_variant ESAD-UK 3 196618435 196618435 single base substitution G A intron_variant ESAD-UK 3 196618806 196618806 single base substitution C T intron_variant ESAD-UK 3 196619272 196619272 single base substitution C A intron_variant ESAD-UK 3 196623326 196623329 deletion of <=200bp TTGA - intron_variant ESAD-UK 3 196623326 196623329 deletion of <=200bp TTGA - upstream_gene_variant ESAD-UK 3 196626654 196626654 single base substitution A T intron_variant ESAD-UK 3 196626654 196626654 single base substitution A T upstream_gene_variant ESAD-UK 3 196626757 196626757 deletion of <=200bp T - intron_variant ESAD-UK 3 196626757 196626757 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 196628873 196628873 single base substitution G A intron_variant ESAD-UK 3 196630499 196630499 single base substitution T C intron_variant ESAD-UK 3 196631339 196631339 single base substitution T G intron_variant ESAD-UK 3 196632630 196632630 single base substitution C T downstream_gene_variant ESAD-UK 3 196632630 196632630 single base substitution C T intron_variant ESAD-UK 3 196634213 196634213 single base substitution C T downstream_gene_variant ESAD-UK 3 196634213 196634213 single base substitution C T intron_variant ESAD-UK 3 196643707 196643707 single base substitution T A intron_variant ESAD-UK 3 196648104 196648104 single base substitution C A intron_variant ESAD-UK 3 196648104 196648104 single base substitution C A upstream_gene_variant ESAD-UK 3 196648698 196648698 single base substitution G A intron_variant ESAD-UK 3 196648698 196648698 single base substitution G A upstream_gene_variant ESAD-UK 3 196649948 196649948 single base substitution G C intron_variant ESAD-UK 3 196649948 196649948 single base substitution G C upstream_gene_variant ESAD-UK 3 196650225 196650225 single base substitution T G intron_variant ESAD-UK 3 196650225 196650225 single base substitution T G upstream_gene_variant ESAD-UK 3 196653011 196653011 single base substitution G A intron_variant ESAD-UK 3 196653011 196653011 single base substitution G A upstream_gene_variant ESAD-UK 3 196656391 196656391 single base substitution C T exon_variant ESAD-UK 3 196656391 196656391 single base substitution C T intron_variant ESAD-UK 3 196661010 196661010 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 3 196661010 196661010 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 196662040 196662040 deletion of <=200bp C - downstream_gene_variant ESAD-UK 3 196665549 196665549 single base substitution G A downstream_gene_variant ESAD-UK 3 196666516 196666516 single base substitution A C downstream_gene_variant ESCA-CN 3 196613165 196613165 single base substitution G A intron_variant ESCA-CN 3 196613165 196613165 single base substitution G A synonymous_variant L371L 1113G>A ESCA-CN 3 196625621 196625621 single base substitution A G intron_variant ESCA-CN 3 196625621 196625621 single base substitution A G upstream_gene_variant ESCA-CN 3 196625700 196625700 single base substitution T G intron_variant ESCA-CN 3 196625700 196625700 single base substitution T G upstream_gene_variant ESCA-CN 3 196650385 196650385 single base substitution A G intron_variant ESCA-CN 3 196650385 196650385 single base substitution A G missense_variant Y152C 455A>G ESCA-CN 3 196650385 196650385 single base substitution A G missense_variant Y32C 95A>G ESCA-CN 3 196650385 196650385 single base substitution A G missense_variant Y662C 1985A>G ESCA-CN 3 196650385 196650385 single base substitution A G upstream_gene_variant ESCA-CN 3 196657568 196657568 single base substitution A G intron_variant GBM-US 3 196613120 196613120 single base substitution G A intron_variant GBM-US 3 196613120 196613120 single base substitution G A stop_gained W356* 1068G>A GBM-US 3 196664454 196664454 single base substitution C T downstream_gene_variant KIRC-US 3 196650309 196650309 single base substitution C G intron_variant KIRC-US 3 196650309 196650309 single base substitution C G missense_variant L127V 379C>G KIRC-US 3 196650309 196650309 single base substitution C G missense_variant L637V 1909C>G KIRC-US 3 196650309 196650309 single base substitution C G missense_variant L7V 19C>G KIRC-US 3 196650309 196650309 single base substitution C G upstream_gene_variant KIRP-US 3 196612951 196612951 insertion of <=200bp - T frameshift_variant S300F? KIRP-US 3 196612951 196612951 insertion of <=200bp - T intron_variant LAML-CN 3 196612986 196612986 single base substitution A G intron_variant LAML-CN 3 196612986 196612986 single base substitution A G missense_variant S312G 934A>G LAML-KR 3 196592545 196592545 single base substitution C A upstream_gene_variant LAML-KR 3 196613664 196613664 single base substitution A G intron_variant LAML-KR 3 196625632 196625632 single base substitution A G intron_variant LAML-KR 3 196625632 196625632 single base substitution A G upstream_gene_variant LAML-KR 3 196625655 196625655 single base substitution A T intron_variant LAML-KR 3 196625655 196625655 single base substitution A T upstream_gene_variant LAML-KR 3 196625671 196625671 single base substitution A G intron_variant LAML-KR 3 196625671 196625671 single base substitution A G upstream_gene_variant LAML-KR 3 196625691 196625691 single base substitution A T intron_variant LAML-KR 3 196625691 196625691 single base substitution A T upstream_gene_variant LAML-KR 3 196625765 196625765 single base substitution A T intron_variant LAML-KR 3 196625765 196625765 single base substitution A T upstream_gene_variant LAML-KR 3 196626460 196626460 single base substitution G A intron_variant LAML-KR 3 196626460 196626460 single base substitution G A upstream_gene_variant LAML-KR 3 196627356 196627356 single base substitution C T intron_variant LAML-KR 3 196627935 196627935 single base substitution G T intron_variant LAML-KR 3 196640541 196640541 single base substitution G T intron_variant LGG-US 3 196654715 196654715 single base substitution G A intron_variant LGG-US 3 196654715 196654715 single base substitution G A missense_variant E11K 31G>A LGG-US 3 196654715 196654715 single base substitution G A missense_variant E181K 541G>A LGG-US 3 196654715 196654715 single base substitution G A missense_variant E645K 1933G>A LGG-US 3 196654715 196654715 single base substitution G A missense_variant E691K 2071G>A LGG-US 3 196654715 196654715 single base substitution G A upstream_gene_variant LICA-FR 3 196593438 196593438 single base substitution T C upstream_gene_variant LICA-FR 3 196599257 196599257 single base substitution G C intron_variant LICA-FR 3 196602057 196602057 single base substitution A G intron_variant LICA-FR 3 196612526 196612526 single base substitution G T intron_variant LICA-FR 3 196612526 196612526 single base substitution G T missense_variant R158S 474G>T LICA-FR 3 196612958 196612958 single base substitution G T intron_variant LICA-FR 3 196612958 196612958 single base substitution G T synonymous_variant R302R 906G>T LICA-FR 3 196653194 196653194 single base substitution A G intron_variant LICA-FR 3 196653194 196653194 single base substitution A G upstream_gene_variant LINC-JP 3 196591587 196591587 single base substitution T C upstream_gene_variant LINC-JP 3 196594101 196594101 single base substitution T C upstream_gene_variant LINC-JP 3 196625620 196625622 deletion of <=200bp TAG - intron_variant LINC-JP 3 196625620 196625622 deletion of <=200bp TAG - upstream_gene_variant LINC-JP 3 196626063 196626063 insertion of <=200bp - C intron_variant LINC-JP 3 196626063 196626063 insertion of <=200bp - C upstream_gene_variant LINC-JP 3 196626132 196626132 insertion of <=200bp - A intron_variant LINC-JP 3 196626132 196626132 insertion of <=200bp - A upstream_gene_variant LINC-JP 3 196626183 196626183 insertion of <=200bp - GT intron_variant LINC-JP 3 196626183 196626183 insertion of <=200bp - GT upstream_gene_variant LINC-JP 3 196626576 196626576 single base substitution T C missense_variant V518A 1553T>C LINC-JP 3 196626576 196626576 single base substitution T C missense_variant V8A 23T>C LINC-JP 3 196626576 196626576 single base substitution T C upstream_gene_variant LINC-JP 3 196644903 196644903 single base substitution G A intron_variant LINC-JP 3 196663812 196663812 single base substitution C T downstream_gene_variant LINC-JP 3 196664572 196664572 single base substitution A T downstream_gene_variant LINC-JP 3 196664593 196664593 single base substitution A C downstream_gene_variant LINC-JP 3 196665956 196665956 single base substitution A G downstream_gene_variant LINC-JP 3 196665967 196665967 single base substitution A G downstream_gene_variant LINC-JP 3 196666367 196666367 single base substitution A T downstream_gene_variant LINC-JP 3 196666370 196666370 single base substitution A G downstream_gene_variant LINC-JP 3 196666428 196666428 single base substitution C T downstream_gene_variant LIRI-JP 3 196590850 196590850 single base substitution G T upstream_gene_variant LIRI-JP 3 196597130 196597130 single base substitution C T intron_variant LIRI-JP 3 196599471 196599471 single base substitution A G intron_variant LIRI-JP 3 196600900 196600900 single base substitution A G intron_variant LIRI-JP 3 196602569 196602569 single base substitution T A intron_variant LIRI-JP 3 196603099 196603099 single base substitution A T intron_variant LIRI-JP 3 196604501 196604501 single base substitution A G intron_variant LIRI-JP 3 196606717 196606717 single base substitution C G intron_variant LIRI-JP 3 196607043 196607043 single base substitution C T intron_variant LIRI-JP 3 196607351 196607351 single base substitution G A intron_variant LIRI-JP 3 196610972 196610972 single base substitution A G intron_variant LIRI-JP 3 196611075 196611075 single base substitution G A intron_variant LIRI-JP 3 196611367 196611367 single base substitution A C intron_variant LIRI-JP 3 196612846 196612846 single base substitution G C intron_variant LIRI-JP 3 196612846 196612846 single base substitution G C missense_variant R265P 794G>C LIRI-JP 3 196614077 196614077 single base substitution A G intron_variant LIRI-JP 3 196614088 196614088 single base substitution G T intron_variant LIRI-JP 3 196614704 196614704 single base substitution A G intron_variant LIRI-JP 3 196616244 196616244 single base substitution T C intron_variant LIRI-JP 3 196616568 196616568 single base substitution A G intron_variant LIRI-JP 3 196618120 196618120 single base substitution A T intron_variant LIRI-JP 3 196618621 196618621 single base substitution G T intron_variant LIRI-JP 3 196620156 196620156 single base substitution C T intron_variant LIRI-JP 3 196623677 196623677 single base substitution T G intron_variant LIRI-JP 3 196623677 196623677 single base substitution T G upstream_gene_variant LIRI-JP 3 196624975 196624975 single base substitution G T intron_variant LIRI-JP 3 196624975 196624975 single base substitution G T upstream_gene_variant LIRI-JP 3 196629918 196629918 single base substitution A G intron_variant LIRI-JP 3 196633968 196633968 single base substitution A G downstream_gene_variant LIRI-JP 3 196633968 196633968 single base substitution A G intron_variant LIRI-JP 3 196634039 196634039 single base substitution A C downstream_gene_variant LIRI-JP 3 196634039 196634039 single base substitution A C intron_variant LIRI-JP 3 196634618 196634618 single base substitution A G downstream_gene_variant LIRI-JP 3 196634618 196634618 single base substitution A G intron_variant LIRI-JP 3 196634850 196634850 single base substitution A G downstream_gene_variant LIRI-JP 3 196634850 196634850 single base substitution A G intron_variant LIRI-JP 3 196634927 196634927 single base substitution G T downstream_gene_variant LIRI-JP 3 196634927 196634927 single base substitution G T intron_variant LIRI-JP 3 196635364 196635364 single base substitution A G downstream_gene_variant LIRI-JP 3 196635364 196635364 single base substitution A G intron_variant LIRI-JP 3 196644661 196644661 single base substitution A T intron_variant LIRI-JP 3 196645870 196645870 single base substitution G A intron_variant LIRI-JP 3 196645870 196645870 single base substitution G A upstream_gene_variant LIRI-JP 3 196649112 196649112 single base substitution C A intron_variant LIRI-JP 3 196649112 196649112 single base substitution C A upstream_gene_variant LIRI-JP 3 196649171 196649171 single base substitution A T intron_variant LIRI-JP 3 196649171 196649171 single base substitution A T upstream_gene_variant LIRI-JP 3 196650490 196650490 single base substitution T A intron_variant LIRI-JP 3 196650490 196650490 single base substitution T A upstream_gene_variant LIRI-JP 3 196653853 196653853 single base substitution C A intron_variant LIRI-JP 3 196653853 196653853 single base substitution C A upstream_gene_variant LIRI-JP 3 196654421 196654421 single base substitution C G intron_variant LIRI-JP 3 196654421 196654421 single base substitution C G upstream_gene_variant LIRI-JP 3 196656238 196656238 single base substitution T C exon_variant LIRI-JP 3 196656238 196656238 single base substitution T C intron_variant LIRI-JP 3 196656395 196656396 deletion of <=200bp GA - exon_variant LIRI-JP 3 196656395 196656396 deletion of <=200bp GA - intron_variant LIRI-JP 3 196656457 196656457 single base substitution A T exon_variant LIRI-JP 3 196656457 196656457 single base substitution A T intron_variant LIRI-JP 3 196657015 196657015 single base substitution A G intron_variant LIRI-JP 3 196657765 196657765 single base substitution G C exon_variant LIRI-JP 3 196657765 196657765 single base substitution G C missense_variant E237Q 709G>C LIRI-JP 3 196657765 196657765 single base substitution G C missense_variant E67Q 199G>C LIRI-JP 3 196657765 196657765 single base substitution G C missense_variant E701Q 2101G>C LIRI-JP 3 196657765 196657765 single base substitution G C missense_variant E747Q 2239G>C LIRI-JP 3 196657765 196657765 single base substitution G C missense_variant E89Q 265G>C LIRI-JP 3 196659474 196659474 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 196659474 196659474 single base substitution A G downstream_gene_variant LIRI-JP 3 196660443 196660443 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 196660443 196660443 single base substitution C T downstream_gene_variant LIRI-JP 3 196661176 196661176 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 3 196661176 196661176 insertion of <=200bp - T downstream_gene_variant LIRI-JP 3 196661310 196661310 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 196661310 196661310 single base substitution A T downstream_gene_variant LIRI-JP 3 196661319 196661319 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 196661319 196661319 single base substitution A C downstream_gene_variant LIRI-JP 3 196661339 196661339 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 3 196661339 196661339 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 196663298 196663298 single base substitution A C downstream_gene_variant LIRI-JP 3 196664270 196664270 single base substitution G C downstream_gene_variant LIRI-JP 3 196664311 196664311 single base substitution T C downstream_gene_variant LIRI-JP 3 196665069 196665069 deletion of <=200bp T - downstream_gene_variant LIRI-JP 3 196665849 196665849 single base substitution T C downstream_gene_variant LIRI-JP 3 196666470 196666470 single base substitution A C downstream_gene_variant LUSC-KR 3 196590709 196590709 single base substitution G A upstream_gene_variant LUSC-KR 3 196591135 196591135 single base substitution C A upstream_gene_variant LUSC-KR 3 196594674 196594674 single base substitution G A upstream_gene_variant LUSC-KR 3 196594726 196594726 single base substitution C T upstream_gene_variant LUSC-KR 3 196594904 196594904 single base substitution G A 5_prime_UTR_variant LUSC-KR 3 196596828 196596828 single base substitution A G intron_variant LUSC-KR 3 196605005 196605005 single base substitution G C intron_variant LUSC-KR 3 196605729 196605729 single base substitution C A intron_variant LUSC-KR 3 196607530 196607530 single base substitution G T intron_variant LUSC-KR 3 196607673 196607673 single base substitution G A intron_variant LUSC-KR 3 196611579 196611579 single base substitution G T intron_variant LUSC-KR 3 196616027 196616027 single base substitution C T intron_variant LUSC-KR 3 196618123 196618123 single base substitution G T intron_variant LUSC-KR 3 196619650 196619650 single base substitution G T intron_variant LUSC-KR 3 196620272 196620272 single base substitution G C intron_variant LUSC-KR 3 196625632 196625632 single base substitution A G intron_variant LUSC-KR 3 196625632 196625632 single base substitution A G upstream_gene_variant LUSC-KR 3 196625645 196625645 single base substitution A T intron_variant LUSC-KR 3 196625645 196625645 single base substitution A T upstream_gene_variant LUSC-KR 3 196625671 196625671 single base substitution A T intron_variant LUSC-KR 3 196625671 196625671 single base substitution A T upstream_gene_variant LUSC-KR 3 196625718 196625718 single base substitution G C intron_variant LUSC-KR 3 196625718 196625718 single base substitution G C upstream_gene_variant LUSC-KR 3 196626133 196626133 single base substitution G A intron_variant LUSC-KR 3 196626133 196626133 single base substitution G A upstream_gene_variant LUSC-KR 3 196628029 196628029 single base substitution G A intron_variant LUSC-KR 3 196630522 196630522 single base substitution A G intron_variant LUSC-KR 3 196634469 196634469 single base substitution G A downstream_gene_variant LUSC-KR 3 196634469 196634469 single base substitution G A intron_variant LUSC-KR 3 196636065 196636065 single base substitution T G downstream_gene_variant LUSC-KR 3 196636065 196636065 single base substitution T G intron_variant LUSC-KR 3 196640260 196640260 single base substitution G A intron_variant LUSC-KR 3 196642785 196642785 single base substitution G C intron_variant LUSC-KR 3 196643064 196643064 single base substitution G A intron_variant LUSC-KR 3 196647553 196647553 single base substitution G A intron_variant LUSC-KR 3 196647553 196647553 single base substitution G A upstream_gene_variant LUSC-KR 3 196653835 196653835 single base substitution G T intron_variant LUSC-KR 3 196653835 196653835 single base substitution G T upstream_gene_variant LUSC-KR 3 196654458 196654458 single base substitution G T intron_variant LUSC-KR 3 196654458 196654458 single base substitution G T upstream_gene_variant LUSC-KR 3 196659005 196659005 single base substitution G T 3_prime_UTR_variant LUSC-KR 3 196659005 196659005 single base substitution G T downstream_gene_variant LUSC-KR 3 196666291 196666291 single base substitution C G downstream_gene_variant LUSC-US 3 196612242 196612242 single base substitution C G intron_variant LUSC-US 3 196612242 196612242 single base substitution C G missense_variant L64V 190C>G LUSC-US 3 196612846 196612846 single base substitution G A intron_variant LUSC-US 3 196612846 196612846 single base substitution G A missense_variant R265Q 794G>A LUSC-US 3 196613059 196613059 single base substitution A T intron_variant LUSC-US 3 196613059 196613059 single base substitution A T missense_variant K336M 1007A>T LUSC-US 3 196613165 196613165 single base substitution G A intron_variant LUSC-US 3 196613165 196613165 single base substitution G A synonymous_variant L371L 1113G>A LUSC-US 3 196626831 196626831 single base substitution G T synonymous_variant R42R 126G>T LUSC-US 3 196626831 196626831 single base substitution G T synonymous_variant R552R 1656G>T LUSC-US 3 196626831 196626831 single base substitution G T upstream_gene_variant LUSC-US 3 196650360 196650360 single base substitution C T intron_variant LUSC-US 3 196650360 196650360 single base substitution C T missense_variant L144F 430C>T LUSC-US 3 196650360 196650360 single base substitution C T missense_variant L24F 70C>T LUSC-US 3 196650360 196650360 single base substitution C T missense_variant L654F 1960C>T LUSC-US 3 196650360 196650360 single base substitution C T upstream_gene_variant LUSC-US 3 196654678 196654678 single base substitution G T intron_variant LUSC-US 3 196654678 196654678 single base substitution G T missense_variant K168N 504G>T LUSC-US 3 196654678 196654678 single base substitution G T missense_variant K632N 1896G>T LUSC-US 3 196654678 196654678 single base substitution G T missense_variant K678N 2034G>T LUSC-US 3 196654678 196654678 single base substitution G T upstream_gene_variant LUSC-US 3 196654687 196654687 single base substitution G A intron_variant LUSC-US 3 196654687 196654687 single base substitution G A start_lost L1L 3G>A LUSC-US 3 196654687 196654687 single base substitution G A synonymous_variant L171L 513G>A LUSC-US 3 196654687 196654687 single base substitution G A synonymous_variant L635L 1905G>A LUSC-US 3 196654687 196654687 single base substitution G A synonymous_variant L681L 2043G>A LUSC-US 3 196654687 196654687 single base substitution G A upstream_gene_variant MALY-DE 3 196589961 196589961 insertion of <=200bp - T upstream_gene_variant MALY-DE 3 196598273 196598273 single base substitution C T intron_variant MALY-DE 3 196600007 196600007 single base substitution T G intron_variant MALY-DE 3 196600027 196600027 single base substitution C T intron_variant MALY-DE 3 196606110 196606110 single base substitution G A intron_variant MALY-DE 3 196609385 196609385 single base substitution A G intron_variant MALY-DE 3 196615531 196615531 single base substitution T C intron_variant MALY-DE 3 196616341 196616341 single base substitution G A intron_variant MALY-DE 3 196621419 196621419 single base substitution A T intron_variant MALY-DE 3 196636405 196636405 single base substitution C T downstream_gene_variant MALY-DE 3 196636405 196636405 single base substitution C T intron_variant MALY-DE 3 196643766 196643766 single base substitution A G intron_variant MALY-DE 3 196645986 196645987 deletion of <=200bp AG - intron_variant MALY-DE 3 196645986 196645987 deletion of <=200bp AG - upstream_gene_variant MALY-DE 3 196646381 196646381 single base substitution C T intron_variant MALY-DE 3 196646381 196646381 single base substitution C T upstream_gene_variant MALY-DE 3 196659752 196659752 single base substitution T A 3_prime_UTR_variant MALY-DE 3 196659752 196659752 single base substitution T A downstream_gene_variant MALY-DE 3 196661264 196661264 single base substitution A G 3_prime_UTR_variant MALY-DE 3 196661264 196661264 single base substitution A G downstream_gene_variant MELA-AU 3 196589859 196589859 single base substitution C T upstream_gene_variant MELA-AU 3 196589860 196589860 single base substitution G A upstream_gene_variant MELA-AU 3 196589903 196589903 single base substitution C T upstream_gene_variant MELA-AU 3 196589950 196589950 single base substitution G A upstream_gene_variant MELA-AU 3 196590411 196590411 single base substitution G A upstream_gene_variant MELA-AU 3 196590725 196590725 single base substitution G A upstream_gene_variant MELA-AU 3 196590942 196590942 single base substitution G A upstream_gene_variant MELA-AU 3 196591024 196591024 single base substitution C T upstream_gene_variant MELA-AU 3 196591059 196591059 single base substitution G A upstream_gene_variant MELA-AU 3 196591095 196591095 single base substitution T C upstream_gene_variant MELA-AU 3 196591402 196591402 single base substitution G A upstream_gene_variant MELA-AU 3 196591546 196591546 single base substitution C T upstream_gene_variant MELA-AU 3 196591641 196591641 single base substitution G A upstream_gene_variant MELA-AU 3 196591864 196591864 single base substitution C T upstream_gene_variant MELA-AU 3 196592051 196592051 single base substitution G A upstream_gene_variant MELA-AU 3 196592183 196592183 single base substitution G A upstream_gene_variant MELA-AU 3 196592255 196592255 single base substitution G A upstream_gene_variant MELA-AU 3 196592595 196592595 single base substitution C T upstream_gene_variant MELA-AU 3 196593531 196593531 single base substitution G A upstream_gene_variant MELA-AU 3 196594688 196594688 single base substitution G A upstream_gene_variant MELA-AU 3 196594699 196594699 single base substitution G A upstream_gene_variant MELA-AU 3 196594699 196594700 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 196594738 196594738 single base substitution G A 5_prime_UTR_variant MELA-AU 3 196594738 196594738 single base substitution G A upstream_gene_variant MELA-AU 3 196595110 196595110 single base substitution C T intron_variant MELA-AU 3 196596106 196596106 single base substitution C T intron_variant MELA-AU 3 196597153 196597153 single base substitution C T intron_variant MELA-AU 3 196597614 196597614 single base substitution C T intron_variant MELA-AU 3 196597923 196597923 single base substitution C T intron_variant MELA-AU 3 196598412 196598412 single base substitution G A intron_variant MELA-AU 3 196598475 196598476 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 3 196598649 196598649 single base substitution C T intron_variant MELA-AU 3 196599323 196599323 single base substitution C T intron_variant MELA-AU 3 196599410 196599410 single base substitution G A intron_variant MELA-AU 3 196600058 196600058 single base substitution C G intron_variant MELA-AU 3 196600143 196600143 single base substitution C T intron_variant MELA-AU 3 196600360 196600360 single base substitution C T intron_variant MELA-AU 3 196601765 196601766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196602013 196602013 single base substitution C A intron_variant MELA-AU 3 196602131 196602131 single base substitution C T intron_variant MELA-AU 3 196602459 196602459 single base substitution C T intron_variant MELA-AU 3 196602563 196602564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196603633 196603633 single base substitution G A intron_variant MELA-AU 3 196603705 196603705 single base substitution G A intron_variant MELA-AU 3 196603970 196603970 single base substitution C T intron_variant MELA-AU 3 196604275 196604275 single base substitution G A intron_variant MELA-AU 3 196605374 196605374 single base substitution C T intron_variant MELA-AU 3 196605757 196605757 single base substitution C T intron_variant MELA-AU 3 196606475 196606475 single base substitution T A intron_variant MELA-AU 3 196607710 196607710 single base substitution C T intron_variant MELA-AU 3 196607810 196607810 single base substitution C T intron_variant MELA-AU 3 196607848 196607848 single base substitution C T intron_variant MELA-AU 3 196607961 196607961 single base substitution G A intron_variant MELA-AU 3 196608581 196608581 single base substitution T C intron_variant MELA-AU 3 196609255 196609255 single base substitution C T intron_variant MELA-AU 3 196609341 196609341 single base substitution C T intron_variant MELA-AU 3 196610785 196610785 single base substitution A G intron_variant MELA-AU 3 196611572 196611572 single base substitution C T intron_variant MELA-AU 3 196612362 196612362 single base substitution T C intron_variant MELA-AU 3 196612362 196612362 single base substitution T C missense_variant F104L 310T>C MELA-AU 3 196612364 196612364 single base substitution C T intron_variant MELA-AU 3 196612364 196612364 single base substitution C T synonymous_variant F104F 312C>T MELA-AU 3 196612582 196612582 single base substitution C T intron_variant MELA-AU 3 196612582 196612582 single base substitution C T missense_variant P177L 530C>T MELA-AU 3 196612926 196612926 single base substitution C T intron_variant MELA-AU 3 196612926 196612926 single base substitution C T missense_variant P292S 874C>T MELA-AU 3 196613696 196613697 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196613868 196613868 single base substitution C T intron_variant MELA-AU 3 196615024 196615024 single base substitution C T intron_variant MELA-AU 3 196615678 196615679 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196616064 196616064 single base substitution T A intron_variant MELA-AU 3 196616321 196616321 single base substitution C T intron_variant MELA-AU 3 196616396 196616396 single base substitution C T intron_variant MELA-AU 3 196617904 196617904 single base substitution A T intron_variant MELA-AU 3 196618685 196618685 single base substitution G A intron_variant MELA-AU 3 196619043 196619043 single base substitution C T intron_variant MELA-AU 3 196619414 196619414 single base substitution A G intron_variant MELA-AU 3 196619993 196619993 single base substitution C T intron_variant MELA-AU 3 196620457 196620457 single base substitution T A intron_variant MELA-AU 3 196620606 196620606 single base substitution C T intron_variant MELA-AU 3 196620608 196620608 single base substitution C T intron_variant MELA-AU 3 196620754 196620754 single base substitution C T intron_variant MELA-AU 3 196621614 196621614 single base substitution C T intron_variant MELA-AU 3 196621812 196621812 single base substitution C T intron_variant MELA-AU 3 196622051 196622051 single base substitution C T intron_variant MELA-AU 3 196622051 196622051 single base substitution C T upstream_gene_variant MELA-AU 3 196622153 196622153 single base substitution C T intron_variant MELA-AU 3 196622153 196622153 single base substitution C T upstream_gene_variant MELA-AU 3 196622423 196622423 single base substitution C T intron_variant MELA-AU 3 196622423 196622423 single base substitution C T upstream_gene_variant MELA-AU 3 196622459 196622459 single base substitution C T intron_variant MELA-AU 3 196622459 196622459 single base substitution C T upstream_gene_variant MELA-AU 3 196622730 196622730 single base substitution T G intron_variant MELA-AU 3 196622730 196622730 single base substitution T G upstream_gene_variant MELA-AU 3 196622817 196622817 single base substitution C T intron_variant MELA-AU 3 196622817 196622817 single base substitution C T upstream_gene_variant MELA-AU 3 196623008 196623008 single base substitution C T intron_variant MELA-AU 3 196623008 196623008 single base substitution C T upstream_gene_variant MELA-AU 3 196623271 196623272 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196623271 196623272 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 196623380 196623381 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 3 196623380 196623381 multiple base substitution (>=2bp and <=200bp) CA TG upstream_gene_variant MELA-AU 3 196623903 196623903 single base substitution C T intron_variant MELA-AU 3 196623903 196623903 single base substitution C T upstream_gene_variant MELA-AU 3 196625003 196625003 single base substitution C T intron_variant MELA-AU 3 196625003 196625003 single base substitution C T upstream_gene_variant MELA-AU 3 196625081 196625082 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196625081 196625082 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 196625094 196625094 single base substitution C T intron_variant MELA-AU 3 196625094 196625094 single base substitution C T upstream_gene_variant MELA-AU 3 196626058 196626058 single base substitution C T intron_variant MELA-AU 3 196626058 196626058 single base substitution C T upstream_gene_variant MELA-AU 3 196628263 196628263 single base substitution A T intron_variant MELA-AU 3 196628285 196628285 single base substitution C T intron_variant MELA-AU 3 196628348 196628348 single base substitution C T intron_variant MELA-AU 3 196629030 196629030 single base substitution C T intron_variant MELA-AU 3 196630012 196630012 single base substitution C T intron_variant MELA-AU 3 196630034 196630034 single base substitution G A intron_variant MELA-AU 3 196630068 196630068 single base substitution T G intron_variant MELA-AU 3 196631019 196631020 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 3 196631117 196631117 single base substitution C T intron_variant MELA-AU 3 196633014 196633014 single base substitution C T downstream_gene_variant MELA-AU 3 196633014 196633014 single base substitution C T intron_variant MELA-AU 3 196633118 196633118 single base substitution C T downstream_gene_variant MELA-AU 3 196633118 196633118 single base substitution C T intron_variant MELA-AU 3 196633119 196633119 single base substitution C T downstream_gene_variant MELA-AU 3 196633119 196633119 single base substitution C T intron_variant MELA-AU 3 196633985 196633985 single base substitution A G downstream_gene_variant MELA-AU 3 196633985 196633985 single base substitution A G intron_variant MELA-AU 3 196634674 196634674 single base substitution C T downstream_gene_variant MELA-AU 3 196634674 196634674 single base substitution C T intron_variant MELA-AU 3 196634888 196634888 single base substitution C T downstream_gene_variant MELA-AU 3 196634888 196634888 single base substitution C T intron_variant MELA-AU 3 196634922 196634922 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 196634922 196634922 deletion of <=200bp T - intron_variant MELA-AU 3 196635156 196635156 single base substitution A G downstream_gene_variant MELA-AU 3 196635156 196635156 single base substitution A G intron_variant MELA-AU 3 196636226 196636226 single base substitution C T downstream_gene_variant MELA-AU 3 196636226 196636226 single base substitution C T intron_variant MELA-AU 3 196636236 196636236 single base substitution C T downstream_gene_variant MELA-AU 3 196636236 196636236 single base substitution C T intron_variant MELA-AU 3 196636501 196636501 single base substitution C T downstream_gene_variant MELA-AU 3 196636501 196636501 single base substitution C T intron_variant MELA-AU 3 196636502 196636502 single base substitution C T downstream_gene_variant MELA-AU 3 196636502 196636502 single base substitution C T intron_variant MELA-AU 3 196636584 196636584 single base substitution C T downstream_gene_variant MELA-AU 3 196636584 196636584 single base substitution C T intron_variant MELA-AU 3 196637044 196637045 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 3 196637044 196637045 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 3 196637560 196637560 single base substitution C T intron_variant MELA-AU 3 196637604 196637604 single base substitution C T intron_variant MELA-AU 3 196637643 196637643 single base substitution C T intron_variant MELA-AU 3 196640106 196640106 single base substitution T A intron_variant MELA-AU 3 196640356 196640356 single base substitution C T intron_variant MELA-AU 3 196640718 196640718 single base substitution C T intron_variant MELA-AU 3 196640777 196640777 single base substitution C T intron_variant MELA-AU 3 196641914 196641914 single base substitution C T intron_variant MELA-AU 3 196642066 196642067 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant MELA-AU 3 196642471 196642471 single base substitution G A intron_variant MELA-AU 3 196642993 196642993 single base substitution C T intron_variant MELA-AU 3 196643665 196643665 single base substitution G A intron_variant MELA-AU 3 196643932 196643932 single base substitution G A intron_variant MELA-AU 3 196644861 196644861 single base substitution T A intron_variant MELA-AU 3 196645685 196645685 single base substitution C T intron_variant MELA-AU 3 196645685 196645685 single base substitution C T upstream_gene_variant MELA-AU 3 196645848 196645848 single base substitution G C intron_variant MELA-AU 3 196645848 196645848 single base substitution G C upstream_gene_variant MELA-AU 3 196645986 196645986 insertion of <=200bp - AG intron_variant MELA-AU 3 196645986 196645986 insertion of <=200bp - AG upstream_gene_variant MELA-AU 3 196646035 196646036 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196646035 196646036 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 196648669 196648669 single base substitution T C intron_variant MELA-AU 3 196648669 196648669 single base substitution T C upstream_gene_variant MELA-AU 3 196648756 196648756 single base substitution C T intron_variant MELA-AU 3 196648756 196648756 single base substitution C T upstream_gene_variant MELA-AU 3 196649387 196649387 single base substitution C T intron_variant MELA-AU 3 196649387 196649387 single base substitution C T upstream_gene_variant MELA-AU 3 196649652 196649653 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196649652 196649653 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 196649953 196649953 single base substitution C A intron_variant MELA-AU 3 196649953 196649953 single base substitution C A upstream_gene_variant MELA-AU 3 196650085 196650085 insertion of <=200bp - T intron_variant MELA-AU 3 196650085 196650085 insertion of <=200bp - T upstream_gene_variant MELA-AU 3 196650173 196650173 single base substitution C T intron_variant MELA-AU 3 196650173 196650173 single base substitution C T upstream_gene_variant MELA-AU 3 196651054 196651054 single base substitution T C intron_variant MELA-AU 3 196651054 196651054 single base substitution T C upstream_gene_variant MELA-AU 3 196651093 196651094 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196651093 196651094 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 196651519 196651519 single base substitution C T intron_variant MELA-AU 3 196651519 196651519 single base substitution C T upstream_gene_variant MELA-AU 3 196651521 196651521 single base substitution T C intron_variant MELA-AU 3 196651521 196651521 single base substitution T C upstream_gene_variant MELA-AU 3 196652141 196652141 single base substitution G A intron_variant MELA-AU 3 196652141 196652141 single base substitution G A upstream_gene_variant MELA-AU 3 196653034 196653034 single base substitution C T intron_variant MELA-AU 3 196653034 196653034 single base substitution C T upstream_gene_variant MELA-AU 3 196653307 196653307 single base substitution C T intron_variant MELA-AU 3 196653307 196653307 single base substitution C T upstream_gene_variant MELA-AU 3 196653832 196653832 single base substitution G A intron_variant MELA-AU 3 196653832 196653832 single base substitution G A upstream_gene_variant MELA-AU 3 196654042 196654042 single base substitution C T intron_variant MELA-AU 3 196654042 196654042 single base substitution C T upstream_gene_variant MELA-AU 3 196654163 196654163 single base substitution C T intron_variant MELA-AU 3 196654163 196654163 single base substitution C T upstream_gene_variant MELA-AU 3 196654345 196654345 single base substitution T A intron_variant MELA-AU 3 196654345 196654345 single base substitution T A upstream_gene_variant MELA-AU 3 196654353 196654353 single base substitution C T intron_variant MELA-AU 3 196654353 196654353 single base substitution C T upstream_gene_variant MELA-AU 3 196655437 196655437 single base substitution C T intron_variant MELA-AU 3 196655437 196655437 single base substitution C T upstream_gene_variant MELA-AU 3 196655571 196655571 single base substitution C T intron_variant MELA-AU 3 196655571 196655571 single base substitution C T upstream_gene_variant MELA-AU 3 196655746 196655746 single base substitution T C intron_variant MELA-AU 3 196655746 196655746 single base substitution T C upstream_gene_variant MELA-AU 3 196656033 196656033 single base substitution C T intron_variant MELA-AU 3 196656033 196656033 single base substitution C T upstream_gene_variant MELA-AU 3 196656268 196656268 single base substitution C T exon_variant MELA-AU 3 196656268 196656268 single base substitution C T intron_variant MELA-AU 3 196656431 196656431 single base substitution C T exon_variant MELA-AU 3 196656431 196656431 single base substitution C T intron_variant MELA-AU 3 196656446 196656446 single base substitution C T exon_variant MELA-AU 3 196656446 196656446 single base substitution C T intron_variant MELA-AU 3 196656672 196656672 single base substitution C T intron_variant MELA-AU 3 196656677 196656677 single base substitution C T intron_variant MELA-AU 3 196656800 196656800 single base substitution G A intron_variant MELA-AU 3 196656862 196656862 single base substitution A T intron_variant MELA-AU 3 196657013 196657013 single base substitution A T intron_variant MELA-AU 3 196657376 196657376 single base substitution C T intron_variant MELA-AU 3 196657420 196657420 single base substitution C T intron_variant MELA-AU 3 196657593 196657593 single base substitution A G intron_variant MELA-AU 3 196658271 196658271 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196658271 196658271 single base substitution C T downstream_gene_variant MELA-AU 3 196658271 196658271 single base substitution C T intron_variant MELA-AU 3 196658836 196658836 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196658836 196658836 single base substitution C T downstream_gene_variant MELA-AU 3 196658947 196658947 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196658947 196658947 single base substitution C T downstream_gene_variant MELA-AU 3 196659429 196659429 single base substitution C A 3_prime_UTR_variant MELA-AU 3 196659429 196659429 single base substitution C A downstream_gene_variant MELA-AU 3 196660480 196660480 single base substitution T C 3_prime_UTR_variant MELA-AU 3 196660480 196660480 single base substitution T C downstream_gene_variant MELA-AU 3 196660693 196660693 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196660693 196660693 single base substitution G A downstream_gene_variant MELA-AU 3 196662523 196662523 single base substitution G A downstream_gene_variant MELA-AU 3 196663264 196663264 single base substitution T C downstream_gene_variant MELA-AU 3 196663811 196663811 single base substitution A G downstream_gene_variant MELA-AU 3 196664230 196664230 single base substitution C A downstream_gene_variant MELA-AU 3 196664721 196664721 single base substitution A T downstream_gene_variant MELA-AU 3 196664850 196664850 single base substitution C T downstream_gene_variant MELA-AU 3 196665369 196665369 single base substitution G A downstream_gene_variant MELA-AU 3 196666449 196666450 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant ORCA-IN 3 196591722 196591722 single base substitution C T upstream_gene_variant ORCA-IN 3 196611544 196611545 deletion of <=200bp TG - intron_variant ORCA-IN 3 196631406 196631406 single base substitution C A intron_variant OV-AU 3 196592705 196592705 single base substitution A G upstream_gene_variant OV-AU 3 196595757 196595757 single base substitution T G intron_variant OV-AU 3 196600117 196600117 single base substitution G C intron_variant OV-AU 3 196600519 196600519 single base substitution G T intron_variant OV-AU 3 196601019 196601019 single base substitution T A intron_variant OV-AU 3 196608088 196608088 single base substitution G T intron_variant OV-AU 3 196613036 196613036 single base substitution T G intron_variant OV-AU 3 196613036 196613036 single base substitution T G synonymous_variant T328T 984T>G OV-AU 3 196620760 196620760 single base substitution G A intron_variant OV-AU 3 196630873 196630873 single base substitution A T intron_variant OV-AU 3 196632078 196632078 single base substitution A G exon_variant OV-AU 3 196632078 196632078 single base substitution A G intron_variant OV-AU 3 196636188 196636188 single base substitution A G downstream_gene_variant OV-AU 3 196636188 196636188 single base substitution A G intron_variant OV-AU 3 196637248 196637248 single base substitution C T intron_variant OV-AU 3 196639656 196639656 single base substitution G A intron_variant OV-AU 3 196644098 196644098 single base substitution C A intron_variant OV-AU 3 196650536 196650536 single base substitution A C intron_variant OV-AU 3 196650536 196650536 single base substitution A C upstream_gene_variant OV-AU 3 196654596 196654596 single base substitution G T intron_variant OV-AU 3 196654596 196654596 single base substitution G T upstream_gene_variant OV-AU 3 196655364 196655364 single base substitution G C intron_variant OV-AU 3 196655364 196655364 single base substitution G C upstream_gene_variant OV-AU 3 196664536 196664536 single base substitution C T downstream_gene_variant PACA-AU 3 196589986 196589986 single base substitution T C upstream_gene_variant PACA-AU 3 196594170 196594170 single base substitution T A upstream_gene_variant PACA-AU 3 196594274 196594274 single base substitution G A upstream_gene_variant PACA-AU 3 196594869 196594869 single base substitution A T 5_prime_UTR_variant PACA-AU 3 196601019 196601019 single base substitution T A intron_variant PACA-AU 3 196606640 196606640 single base substitution G A intron_variant PACA-AU 3 196606644 196606644 single base substitution T C intron_variant PACA-AU 3 196612056 196612056 insertion of <=200bp - A frameshift_variant K2K? PACA-AU 3 196612056 196612056 insertion of <=200bp - A intron_variant PACA-AU 3 196613644 196613644 deletion of <=200bp T - intron_variant PACA-AU 3 196619779 196619779 single base substitution T C intron_variant PACA-AU 3 196623415 196623422 deletion of <=200bp TCCCAGGT - intron_variant PACA-AU 3 196623415 196623422 deletion of <=200bp TCCCAGGT - upstream_gene_variant PACA-AU 3 196626045 196626054 deletion of <=200bp TGTATGATAT - intron_variant PACA-AU 3 196626045 196626054 deletion of <=200bp TGTATGATAT - upstream_gene_variant PACA-AU 3 196626745 196626745 single base substitution G A intron_variant PACA-AU 3 196626745 196626745 single base substitution G A upstream_gene_variant PACA-AU 3 196627188 196627188 single base substitution A G intron_variant PACA-AU 3 196632011 196632011 single base substitution G T exon_variant PACA-AU 3 196632011 196632011 single base substitution G T intron_variant PACA-AU 3 196632587 196632587 single base substitution A T downstream_gene_variant PACA-AU 3 196632587 196632587 single base substitution A T intron_variant PACA-AU 3 196633384 196633384 single base substitution G C downstream_gene_variant PACA-AU 3 196633384 196633384 single base substitution G C intron_variant PACA-AU 3 196639886 196639886 single base substitution A G intron_variant PACA-AU 3 196639992 196639992 single base substitution G A intron_variant PACA-AU 3 196650185 196650185 single base substitution C A intron_variant PACA-AU 3 196650185 196650185 single base substitution C A upstream_gene_variant PACA-AU 3 196650466 196650466 single base substitution G A intron_variant PACA-AU 3 196650466 196650466 single base substitution G A upstream_gene_variant PACA-AU 3 196650848 196650848 single base substitution G A intron_variant PACA-AU 3 196650848 196650848 single base substitution G A upstream_gene_variant PACA-AU 3 196651073 196651073 single base substitution A G intron_variant PACA-AU 3 196651073 196651073 single base substitution A G upstream_gene_variant PACA-AU 3 196652158 196652158 single base substitution T A intron_variant PACA-AU 3 196652158 196652158 single base substitution T A upstream_gene_variant PACA-AU 3 196660040 196660040 single base substitution C T 3_prime_UTR_variant PACA-AU 3 196660040 196660040 single base substitution C T downstream_gene_variant PACA-AU 3 196660239 196660239 single base substitution G A 3_prime_UTR_variant PACA-AU 3 196660239 196660239 single base substitution G A downstream_gene_variant PACA-AU 3 196662533 196662533 single base substitution C T downstream_gene_variant PACA-CA 3 196589957 196589957 single base substitution C A upstream_gene_variant PACA-CA 3 196591272 196591272 insertion of <=200bp - TAAA upstream_gene_variant PACA-CA 3 196591324 196591324 single base substitution T C upstream_gene_variant PACA-CA 3 196592721 196592721 single base substitution A G upstream_gene_variant PACA-CA 3 196593035 196593035 single base substitution G T upstream_gene_variant PACA-CA 3 196593056 196593056 single base substitution C T upstream_gene_variant PACA-CA 3 196594358 196594358 single base substitution G C upstream_gene_variant PACA-CA 3 196598162 196598162 single base substitution T C intron_variant PACA-CA 3 196599142 196599142 single base substitution C T intron_variant PACA-CA 3 196601019 196601019 single base substitution T A intron_variant PACA-CA 3 196602369 196602369 single base substitution T C intron_variant PACA-CA 3 196602731 196602731 single base substitution G C intron_variant PACA-CA 3 196606878 196606878 single base substitution G A intron_variant PACA-CA 3 196611413 196611413 single base substitution G C intron_variant PACA-CA 3 196616032 196616033 deletion of <=200bp AG - intron_variant PACA-CA 3 196616211 196616211 single base substitution T C intron_variant PACA-CA 3 196616477 196616477 deletion of <=200bp T - intron_variant PACA-CA 3 196618720 196618720 single base substitution G C intron_variant PACA-CA 3 196619007 196619007 single base substitution T G intron_variant PACA-CA 3 196622950 196622950 single base substitution G A intron_variant PACA-CA 3 196622950 196622950 single base substitution G A upstream_gene_variant PACA-CA 3 196624871 196624871 single base substitution C T intron_variant PACA-CA 3 196624871 196624871 single base substitution C T upstream_gene_variant PACA-CA 3 196631589 196631589 single base substitution G A intron_variant PACA-CA 3 196637534 196637534 single base substitution G C intron_variant PACA-CA 3 196648754 196648754 single base substitution A G intron_variant PACA-CA 3 196648754 196648754 single base substitution A G upstream_gene_variant PACA-CA 3 196649632 196649632 single base substitution A G intron_variant PACA-CA 3 196649632 196649632 single base substitution A G upstream_gene_variant PACA-CA 3 196655007 196655007 single base substitution A G intron_variant PACA-CA 3 196655007 196655007 single base substitution A G upstream_gene_variant PACA-CA 3 196655358 196655358 single base substitution G C intron_variant PACA-CA 3 196655358 196655358 single base substitution G C upstream_gene_variant PACA-CA 3 196657084 196657084 single base substitution C T intron_variant PACA-CA 3 196658431 196658431 single base substitution G C 3_prime_UTR_variant PACA-CA 3 196658431 196658431 single base substitution G C downstream_gene_variant PACA-CA 3 196658431 196658431 single base substitution G C intron_variant PACA-CA 3 196658739 196658739 single base substitution G A 3_prime_UTR_variant PACA-CA 3 196658739 196658739 single base substitution G A downstream_gene_variant PACA-CA 3 196658739 196658739 single base substitution G A intron_variant PACA-CA 3 196659198 196659198 single base substitution C T 3_prime_UTR_variant PACA-CA 3 196659198 196659198 single base substitution C T downstream_gene_variant PACA-CA 3 196660484 196660484 single base substitution T G 3_prime_UTR_variant PACA-CA 3 196660484 196660484 single base substitution T G downstream_gene_variant PACA-CA 3 196660495 196660495 single base substitution G A 3_prime_UTR_variant PACA-CA 3 196660495 196660495 single base substitution G A downstream_gene_variant PACA-CA 3 196663942 196663942 single base substitution C G downstream_gene_variant PACA-CA 3 196664469 196664469 single base substitution G A downstream_gene_variant PACA-CA 3 196664539 196664539 single base substitution T C downstream_gene_variant PAEN-AU 3 196595154 196595154 single base substitution C T intron_variant PAEN-AU 3 196595455 196595455 single base substitution C G intron_variant PAEN-AU 3 196608291 196608291 single base substitution G T intron_variant PAEN-IT 3 196648421 196648421 single base substitution A T intron_variant PAEN-IT 3 196648421 196648421 single base substitution A T upstream_gene_variant PAEN-IT 3 196654715 196654715 single base substitution G C intron_variant PAEN-IT 3 196654715 196654715 single base substitution G C missense_variant E11Q 31G>C PAEN-IT 3 196654715 196654715 single base substitution G C missense_variant E181Q 541G>C PAEN-IT 3 196654715 196654715 single base substitution G C missense_variant E645Q 1933G>C PAEN-IT 3 196654715 196654715 single base substitution G C missense_variant E691Q 2071G>C PAEN-IT 3 196654715 196654715 single base substitution G C upstream_gene_variant PBCA-DE 3 196596731 196596731 single base substitution G T intron_variant PBCA-DE 3 196599459 196599459 single base substitution C G intron_variant PBCA-DE 3 196613004 196613004 single base substitution G A intron_variant PBCA-DE 3 196613004 196613004 single base substitution G A missense_variant G318R 952G>A PBCA-DE 3 196620611 196620611 insertion of <=200bp - TCT intron_variant PBCA-DE 3 196621184 196621184 single base substitution G A intron_variant PBCA-DE 3 196626548 196626548 single base substitution G T 5_prime_UTR_variant PBCA-DE 3 196626548 196626548 single base substitution G T stop_gained E509* 1525G>T PBCA-DE 3 196626548 196626548 single base substitution G T upstream_gene_variant PBCA-DE 3 196631999 196631999 single base substitution G T exon_variant PBCA-DE 3 196631999 196631999 single base substitution G T intron_variant PBCA-DE 3 196640440 196640441 deletion of <=200bp AA - intron_variant PBCA-DE 3 196659884 196659890 deletion of <=200bp GTTTTTT - 3_prime_UTR_variant PBCA-DE 3 196659884 196659890 deletion of <=200bp GTTTTTT - downstream_gene_variant PBCA-DE 3 196665864 196665864 single base substitution T C downstream_gene_variant PRAD-UK 3 196597399 196597399 single base substitution T G intron_variant PRAD-UK 3 196628777 196628777 single base substitution A G intron_variant PRAD-UK 3 196651479 196651479 single base substitution C G intron_variant PRAD-UK 3 196651479 196651479 single base substitution C G upstream_gene_variant READ-US 3 196650370 196650370 single base substitution G A intron_variant READ-US 3 196650370 196650370 single base substitution G A missense_variant R147Q 440G>A READ-US 3 196650370 196650370 single base substitution G A missense_variant R27Q 80G>A READ-US 3 196650370 196650370 single base substitution G A missense_variant R657Q 1970G>A READ-US 3 196650370 196650370 single base substitution G A upstream_gene_variant READ-US 3 196664440 196664440 single base substitution C A downstream_gene_variant RECA-EU 3 196593130 196593130 single base substitution A C upstream_gene_variant RECA-EU 3 196594352 196594352 single base substitution G T upstream_gene_variant RECA-EU 3 196615696 196615696 single base substitution A T intron_variant RECA-EU 3 196642084 196642084 single base substitution C A intron_variant RECA-EU 3 196642085 196642085 single base substitution C A intron_variant RECA-EU 3 196646332 196646332 single base substitution A T intron_variant RECA-EU 3 196646332 196646332 single base substitution A T upstream_gene_variant RECA-EU 3 196660620 196660620 single base substitution C T 3_prime_UTR_variant RECA-EU 3 196660620 196660620 single base substitution C T downstream_gene_variant SKCA-BR 3 196591729 196591729 single base substitution C T upstream_gene_variant SKCA-BR 3 196593654 196593654 single base substitution G A upstream_gene_variant SKCA-BR 3 196594393 196594393 single base substitution T G upstream_gene_variant SKCA-BR 3 196594955 196594955 single base substitution A G intron_variant SKCA-BR 3 196595751 196595751 insertion of <=200bp - ATGTTTTTTTTTTGTT intron_variant SKCA-BR 3 196596291 196596291 single base substitution T G intron_variant SKCA-BR 3 196597371 196597371 single base substitution C T intron_variant SKCA-BR 3 196599940 196599941 deletion of <=200bp CT - intron_variant SKCA-BR 3 196601805 196601805 single base substitution C T intron_variant SKCA-BR 3 196603584 196603584 insertion of <=200bp - CA intron_variant SKCA-BR 3 196603584 196603585 deletion of <=200bp CA - intron_variant SKCA-BR 3 196607210 196607210 single base substitution C T intron_variant SKCA-BR 3 196607506 196607506 single base substitution A T intron_variant SKCA-BR 3 196608977 196608977 single base substitution C T intron_variant SKCA-BR 3 196614292 196614292 single base substitution C T intron_variant SKCA-BR 3 196620780 196620780 insertion of <=200bp - CA intron_variant SKCA-BR 3 196621405 196621405 insertion of <=200bp - CT intron_variant SKCA-BR 3 196625949 196625950 deletion of <=200bp CA - intron_variant SKCA-BR 3 196625949 196625950 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 3 196631861 196631861 single base substitution C T exon_variant SKCA-BR 3 196631861 196631861 single base substitution C T intron_variant SKCA-BR 3 196634041 196634041 single base substitution G A downstream_gene_variant SKCA-BR 3 196634041 196634041 single base substitution G A intron_variant SKCA-BR 3 196634324 196634324 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 3 196634324 196634324 insertion of <=200bp - CA intron_variant SKCA-BR 3 196635483 196635483 single base substitution T G downstream_gene_variant SKCA-BR 3 196635483 196635483 single base substitution T G intron_variant SKCA-BR 3 196637604 196637604 single base substitution C T intron_variant SKCA-BR 3 196640518 196640518 insertion of <=200bp - CTT intron_variant SKCA-BR 3 196643058 196643058 single base substitution C T intron_variant SKCA-BR 3 196645071 196645071 single base substitution G A intron_variant SKCA-BR 3 196646448 196646448 single base substitution T G intron_variant SKCA-BR 3 196646448 196646448 single base substitution T G upstream_gene_variant SKCA-BR 3 196647043 196647043 single base substitution A T intron_variant SKCA-BR 3 196647043 196647043 single base substitution A T upstream_gene_variant SKCA-BR 3 196652376 196652376 single base substitution G A intron_variant SKCA-BR 3 196652376 196652376 single base substitution G A upstream_gene_variant SKCA-BR 3 196653764 196653764 single base substitution C T intron_variant SKCA-BR 3 196653764 196653764 single base substitution C T upstream_gene_variant SKCA-BR 3 196655435 196655435 single base substitution C T intron_variant SKCA-BR 3 196655435 196655435 single base substitution C T upstream_gene_variant SKCA-BR 3 196655992 196655992 single base substitution C T intron_variant SKCA-BR 3 196655992 196655992 single base substitution C T upstream_gene_variant SKCA-BR 3 196656858 196656858 insertion of <=200bp - TA intron_variant SKCA-BR 3 196661962 196661962 single base substitution G C downstream_gene_variant SKCA-BR 3 196665854 196665854 single base substitution A G downstream_gene_variant SKCM-US 3 196612362 196612362 single base substitution T C intron_variant SKCM-US 3 196612362 196612362 single base substitution T C missense_variant F104L 310T>C SKCM-US 3 196613461 196613461 single base substitution C T intron_variant SKCM-US 3 196613461 196613461 single base substitution C T missense_variant P470L 1409C>T STAD-US 3 196612777 196612777 single base substitution G A intron_variant STAD-US 3 196612777 196612777 single base substitution G A missense_variant R242Q 725G>A STAD-US 3 196613083 196613083 single base substitution T C intron_variant STAD-US 3 196613083 196613083 single base substitution T C missense_variant F344S 1031T>C STAD-US 3 196613205 196613205 single base substitution A G intron_variant STAD-US 3 196613205 196613205 single base substitution A G missense_variant M385V 1153A>G STAD-US 3 196626927 196626927 single base substitution T C exon_variant STAD-US 3 196626927 196626927 single base substitution T C synonymous_variant N584N 1752T>C STAD-US 3 196626927 196626927 single base substitution T C synonymous_variant N74N 222T>C STAD-US 3 196664431 196664431 single base substitution C T downstream_gene_variant STAD-US 3 196664509 196664509 single base substitution G A downstream_gene_variant STAD-US 3 196666226 196666226 single base substitution A C downstream_gene_variant STAD-US 3 196666260 196666260 single base substitution G A downstream_gene_variant THCA-SA 3 196613075 196613075 single base substitution C T intron_variant THCA-SA 3 196613075 196613075 single base substitution C T synonymous_variant D341D 1023C>T THCA-SA 3 196660820 196660820 single base substitution C T 3_prime_UTR_variant THCA-SA 3 196660820 196660820 single base substitution C T downstream_gene_variant THCA-SA 3 196660968 196660968 single base substitution C T 3_prime_UTR_variant THCA-SA 3 196660968 196660968 single base substitution C T downstream_gene_variant THCA-SA 3 196662275 196662275 single base substitution C T downstream_gene_variant THCA-SA 3 196663122 196663122 single base substitution T A downstream_gene_variant THCA-US 3 196612456 196612456 single base substitution A G intron_variant THCA-US 3 196612456 196612456 single base substitution A G missense_variant N135S 404A>G UCEC-US 3 196612424 196612424 single base substitution G T intron_variant UCEC-US 3 196612424 196612424 single base substitution G T missense_variant K124N 372G>T UCEC-US 3 196612430 196612430 single base substitution T C intron_variant UCEC-US 3 196612430 196612430 single base substitution T C synonymous_variant S126S 378T>C UCEC-US 3 196612627 196612627 single base substitution G A intron_variant UCEC-US 3 196612627 196612627 single base substitution G A missense_variant R192K 575G>A UCEC-US 3 196612754 196612754 single base substitution G T intron_variant UCEC-US 3 196612754 196612754 single base substitution G T missense_variant E234D 702G>T UCEC-US 3 196612859 196612859 single base substitution G T intron_variant UCEC-US 3 196612859 196612859 single base substitution G T missense_variant Q269H 807G>T UCEC-US 3 196613008 196613008 single base substitution C T intron_variant UCEC-US 3 196613008 196613008 single base substitution C T missense_variant T319M 956C>T UCEC-US 3 196613169 196613169 single base substitution C T intron_variant UCEC-US 3 196613169 196613169 single base substitution C T missense_variant H373Y 1117C>T UCEC-US 3 196613454 196613454 single base substitution G A intron_variant UCEC-US 3 196613454 196613454 single base substitution G A missense_variant E468K 1402G>A UCEC-US 3 196626836 196626836 single base substitution G T missense_variant R44I 131G>T UCEC-US 3 196626836 196626836 single base substitution G T missense_variant R554I 1661G>T UCEC-US 3 196626836 196626836 single base substitution G T upstream_gene_variant UCEC-US 3 196626857 196626857 single base substitution G A missense_variant R51H 152G>A UCEC-US 3 196626857 196626857 single base substitution G A missense_variant R561H 1682G>A UCEC-US 3 196626857 196626857 single base substitution G A upstream_gene_variant UCEC-US 3 196627274 196627274 single base substitution C T exon_variant UCEC-US 3 196627274 196627274 single base substitution C T synonymous_variant V599V 1797C>T UCEC-US 3 196627274 196627274 single base substitution C T synonymous_variant V89V 267C>T UCEC-US 3 196650370 196650370 single base substitution G A intron_variant UCEC-US 3 196650370 196650370 single base substitution G A missense_variant R147Q 440G>A UCEC-US 3 196650370 196650370 single base substitution G A missense_variant R27Q 80G>A UCEC-US 3 196650370 196650370 single base substitution G A missense_variant R657Q 1970G>A UCEC-US 3 196650370 196650370 single base substitution G A upstream_gene_variant UCEC-US 3 196650375 196650375 single base substitution A G intron_variant UCEC-US 3 196650375 196650375 single base substitution A G missense_variant I149V 445A>G UCEC-US 3 196650375 196650375 single base substitution A G missense_variant I29V 85A>G UCEC-US 3 196650375 196650375 single base substitution A G missense_variant I659V 1975A>G UCEC-US 3 196650375 196650375 single base substitution A G upstream_gene_variant UCEC-US 3 196663950 196663950 single base substitution G A downstream_gene_variant UCEC-US 3 196664404 196664404 single base substitution C T downstream_gene_variant UCEC-US 3 196664432 196664432 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC-129T COSM3940466 c.1985A>G p.Y662C Substitution - Missense 3:196923514-196923514 + TCGA-B5-A11H-01 COSM1043093 c.956C>T p.T319M Substitution - Missense 3:196886137-196886137 + TCGA-B0-4818-01 COSM479957 c.1319A>G p.Y440C Substitution - Missense 3:196886500-196886500 + 2492726 COSM5724724 c.1624C>T p.P542S Substitution - Missense 3:196899928-196899928 + 134430 COSM326444 c.1323G>C p.Q441H Substitution - Missense 3:196886504-196886504 + B98 COSM1753125 c.120G>A p.L40L Substitution - coding silent 3:196885301-196885301 + TCGA-AA-A010-01 COSM284891 c.1214C>A p.S405Y Substitution - Missense 3:196886395-196886395 + SC_9093 COSM5572748 c.1691A>G p.Y564C Substitution - Missense 3:196899995-196899995 + PT08_1 COSM5892915 c.406C>T p.L136F Substitution - Missense 3:196885587-196885587 + TCGA-EE-A2GI-06 COSM3591902 c.1409C>T p.P470L Substitution - Missense 3:196886590-196886590 + TCGA-IR-A3LI-01 COSM4846131 c.1342C>T p.L448F Substitution - Missense 3:196886523-196886523 + B98-Tumor COSM1753125 c.120G>A p.L40L Substitution - coding silent 3:196885301-196885301 + Pat_41_B COSM5864206 c.1501G>A p.V501I Substitution - Missense 3:196886682-196886682 + CHC1186T COSM4803455 c.906G>T p.R302R Substitution - coding silent 3:196886087-196886087 + TCGA-A8-A09N-01 COSM446268 c.1205A>C p.Q402P Substitution - Missense 3:196886386-196886386 + BCB109T COSM4798816 c.474G>T p.R158S Substitution - Missense 3:196885655-196885655 + TCGA-60-2715-01 COSM730502 c.1960C>T p.L654F Substitution - Missense 3:196923489-196923489 + PT42 COSM5577727 c.724C>T p.R242W Substitution - Missense 3:196885905-196885905 + PT36 COSM5915222 c.53C>T p.S18F Substitution - Missense 3:196885234-196885234 + RKO COSM2947603 c.1910T>C p.L637P Substitution - Missense 3:196923439-196923439 + LUAD-RT-S01477 COSM377640 c.794G>A p.R265Q Substitution - Missense 3:196885975-196885975 + TCGA-AX-A0J0-01 COSM1043087 c.575G>A p.R192K Substitution - Missense 3:196885756-196885756 + TCGA-AZ-6601-01 COSM1422048 c.1584A>G p.R528R Substitution - coding silent 3:196899736-196899736 + TCGA-BS-A0UV-01 COSM1043089 c.702G>T p.E234D Substitution - Missense 3:196885883-196885883 + TCGA-CG-5721-01 COSM4116444 c.1031T>C p.F344S Substitution - Missense 3:196886212-196886212 + 1164-01-01TD COSM5416605 c.300C>T p.D100D Substitution - coding silent 3:196885481-196885481 + 19M COSM5579532 c.2102C>T p.T701M Substitution - Missense 3:196927875-196927875 + PT08_2 COSM5892915 c.406C>T p.L136F Substitution - Missense 3:196885587-196885587 + CSCC-7-T COSM4475482 c.1992C>T p.S664S Substitution - coding silent 3:196923521-196923521 + TCGA-DU-6403-01 COSM3974343 c.2071G>A p.E691K Substitution - Missense 3:196927844-196927844 + sysucc-274T COSM5476449 c.718A>G p.R240G Substitution - Missense 3:196885899-196885899 + CSCC-11-T COSM4554705 c.628G>A p.G210R Substitution - Missense 3:196885809-196885809 + YUMOBER COSM5398968 c.1831C>T p.H611Y Substitution - Missense 3:196903557-196903557 + LUAD-NYU315 COSM373655 c.414G>T p.K138N Substitution - Missense 3:196885595-196885595 + TCGA-FU-A40J-01 COSM4843995 c.599G>A p.C200Y Substitution - Missense 3:196885780-196885780 + TCGA-AX-A05Z-01 COSM1043083 c.372G>T p.K124N Substitution - Missense 3:196885553-196885553 + TCGA-JW-A5VL-01 COSM4847260 c.3G>C p.M1I Substitution - Missense 3:196885184-196885184 + Pat_41_B COSM5864205 c.190C>T p.L64F Substitution - Missense 3:196885371-196885371 + ESCC_140 COSM5643410 c.546G>A p.T182T Substitution - coding silent 3:196885727-196885727 + ESCC-152T COSM730504 c.1113G>A p.L371L Substitution - coding silent 3:196886294-196886294 + BCB109T COSM4798816 c.474G>T p.R158S Substitution - Missense 3:196885655-196885655 + ME024T COSM226102 c.1576C>T p.L526F Substitution - Missense 3:196899728-196899728 + SNU-175 COSM2947594 c.1337G>A p.G446E Substitution - Missense 3:196886518-196886518 + PD24304a COSM5787417 c.1245G>T p.V415V Substitution - coding silent 3:196886426-196886426 + 2492713 COSM5607009 c.1127C>T p.P376L Substitution - Missense 3:196886308-196886308 + TCGA-CU-A3KJ-01 COSM1043095 c.1117C>T p.H373Y Substitution - Missense 3:196886298-196886298 + 442 COSM4434669 c.1797C>A p.V599V Substitution - coding silent 3:196900403-196900403 + TCGA-B5-A11G-01 COSM1043085 c.378T>C p.S126S Substitution - coding silent 3:196885559-196885559 + 2492711 COSM5607009 c.1127C>T p.P376L Substitution - Missense 3:196886308-196886308 + pfg014T COSM1642215 c.2146T>A p.F716I Substitution - Missense 3:196929672-196929672 + CSCC-40-T COSM4464054 c.1316C>T p.S439L Substitution - Missense 3:196886497-196886497 + 12M COSM5577727 c.724C>T p.R242W Substitution - Missense 3:196885905-196885905 + 19 COSM5746239 c.1876A>T p.T626S Substitution - Missense 3:196903602-196903602 + TCGA-AP-A059-01 COSM1043091 c.807G>T p.Q269H Substitution - Missense 3:196885988-196885988 + TCGA-AZ-4315-01 COSM1422045 c.1272C>T p.S424S Substitution - coding silent 3:196886453-196886453 + LIM2405 COSM4642763 c.1757A>G p.Q586R Substitution - Missense 3:196900061-196900061 + 587336 COSM1225208 c.206C>T p.T69M Substitution - Missense 3:196885387-196885387 + 2_tFL COSM4171229 c.2113C>G p.P705A Substitution - Missense 3:196929639-196929639 + TCGA-AM-5820-01 COSM3760004 c.141A>G p.P47P Substitution - coding silent 3:196885322-196885322 + TCGA-AP-A0LM-01 COSM1043091 c.807G>T p.Q269H Substitution - Missense 3:196885988-196885988 + TCGA-AP-A059-01 COSM1043099 c.1661G>T p.R554I Substitution - Missense 3:196899965-196899965 + T3610 COSM4724853 c.909T>A p.H303Q Substitution - Missense 3:196886090-196886090 + TCGA-AG-A002-01 COSM263573 c.1596C>A p.V532V Substitution - coding silent 3:196899748-196899748 + TCGA-34-5240-01 COSM730504 c.1113G>A p.L371L Substitution - coding silent 3:196886294-196886294 + TCGA-AP-A0LI-01 COSM1043095 c.1117C>T p.H373Y Substitution - Missense 3:196886298-196886298 + YUZINO COSM1694034 c.1625C>T p.P542L Substitution - Missense 3:196899929-196899929 + PT21_2 COSM5901272 c.874C>T p.P292S Substitution - Missense 3:196886055-196886055 + TCGA-D1-A17Q-01 COSM1043103 c.1797C>T p.V599V Substitution - coding silent 3:196900403-196900403 + TCGA-AF-A56N-01 COSM5066521 c.1608C>G p.D536E Substitution - Missense 3:196899760-196899760 + YUNEKI COSM4476552 c.2077C>T p.L693F Substitution - Missense 3:196927850-196927850 + TCGA-B5-A11E-01 COSM1043097 c.1402G>A p.E468K Substitution - Missense 3:196886583-196886583 + TCGA-CJ-5679-01 COSM479959 c.1909C>G p.L637V Substitution - Missense 3:196923438-196923438 + CHC1186T COSM4803455 c.906G>T p.R302R Substitution - coding silent 3:196886087-196886087 + TCGA-34-5236-01 COSM730505 c.1007A>T p.K336M Substitution - Missense 3:196886188-196886188 + TCGA-FJ-A3Z7-01 COSM3774851 c.1222G>A p.D408N Substitution - Missense 3:196886403-196886403 + PET100T COSM4963682 c.2071G>C p.E691Q Substitution - Missense 3:196927844-196927844 + TCGA-AG-A02N-01 COSM265421 c.3_4insA p.Q4fs*16 Insertion - Frameshift 3:196885184-196885185 + 25 COSM5011243 c.1465C>T p.Q489* Substitution - Nonsense 3:196886646-196886646 + 2492712 COSM5607009 c.1127C>T p.P376L Substitution - Missense 3:196886308-196886308 + RKO COSM4648697 c.230G>A p.C77Y Substitution - Missense 3:196885411-196885411 + TCGA-CA-6717-01 COSM1422050 c.1852G>T p.G618* Substitution - Nonsense 3:196903578-196903578 + TCGA-BR-8372-01 COSM4116445 c.1153A>G p.M385V Substitution - Missense 3:196886334-196886334 + Au8 COSM5607009 c.1127C>T p.P376L Substitution - Missense 3:196886308-196886308 + TCGA-B0-5701-01 COSM479958 c.1715A>G p.D572G Substitution - Missense 3:196900019-196900019 + TCGA-AM-5820-01 COSM3695999 c.248A>G p.N83S Substitution - Missense 3:196885429-196885429 + TCGA-AX-A0J0-01 COSM1043107 c.1975A>G p.I659V Substitution - Missense 3:196923504-196923504 + HX16T COSM1617411 c.1553T>C p.V518A Substitution - Missense 3:196899705-196899705 + TCGA-66-2771-01 COSM377640 c.794G>A p.R265Q Substitution - Missense 3:196885975-196885975 + 2492725 COSM5724724 c.1624C>T p.P542S Substitution - Missense 3:196899928-196899928 + AOCS-160-1-6 COSM4149806 c.984T>G p.T328T Substitution - coding silent 3:196886165-196886165 + TCGA-GC-A3YS-01 COSM3774850 c.55G>C p.E19Q Substitution - Missense 3:196885236-196885236 + NCI-H1437 COSM24376 c.1458G>A p.K486K Substitution - coding silent 3:196886639-196886639 + TCGA-EE-A2M5-06 COSM3591901 c.310T>C p.F104L Substitution - Missense 3:196885491-196885491 + YUGURT COSM5398967 c.1638G>A p.R546R Substitution - coding silent 3:196899942-196899942 + ITNET_0100_T COSM4963682 c.2071G>C p.E691Q Substitution - Missense 3:196927844-196927844 + C086 COSM5538753 c.1680C>T p.F560F Substitution - coding silent 3:196899984-196899984 + 4_RESISTANT COSM1724278 c.651C>T p.F217F Substitution - coding silent 3:196885832-196885832 + TCGA-G4-6320-01 COSM1422045 c.1272C>T p.S424S Substitution - coding silent 3:196886453-196886453 + cSCCP8 COSM140475 c.140C>A p.P47Q Substitution - Missense 3:196885321-196885321 + CSCC-29-T COSM4476552 c.2077C>T p.L693F Substitution - Missense 3:196927850-196927850 + TCGA-28-5218-01 COSM3408551 c.1068G>A p.W356* Substitution - Nonsense 3:196886249-196886249 + 2492724 COSM5724724 c.1624C>T p.P542S Substitution - Missense 3:196899928-196899928 + CSCC-29-T COSM4529372 c.1606G>A p.D536N Substitution - Missense 3:196899758-196899758 + TCGA-39-5022-01 COSM730506 c.190C>G p.L64V Substitution - Missense 3:196885371-196885371 + RK123_C01 COSM3767377 c.2239G>C p.E747Q Substitution - Missense 3:196930894-196930894 + TCGA-EL-A3H5-01 COSM3373125 c.404A>G p.N135S Substitution - Missense 3:196885585-196885585 + 041T COSM1729369 c.2049A>T p.E683D Substitution - Missense 3:196927822-196927822 + CML042T COSM5802862 c.934A>G p.S312G Substitution - Missense 3:196886115-196886115 + 134417 COSM326443 c.512A>G p.N171S Substitution - Missense 3:196885693-196885693 + 107519 COSM96206 c.2259C>T p.L753L Substitution - coding silent 3:196930914-196930914 + TCGA-66-2771-01 COSM730500 c.2043G>A p.L681L Substitution - coding silent 3:196927816-196927816 + TCGA-D1-A17Q-01 COSM1043105 c.1970G>A p.R657Q Substitution - Missense 3:196923499-196923499 + T1764 COSM4724852 c.207G>A p.T69T Substitution - coding silent 3:196885388-196885388 + 105289 COSM95238 c.2197T>C p.S733P Substitution - Missense 3:196930852-196930852 + TCGA-F5-6814-01 COSM1043105 c.1970G>A p.R657Q Substitution - Missense 3:196923499-196923499 + T2944 COSM4724854 c.1700A>G p.H567R Substitution - Missense 3:196900004-196900004 + TCGA-AG-A002-01 COSM263572 c.355C>A p.L119M Substitution - Missense 3:196885536-196885536 + RK189_C01 COSM1633089 c.794G>C p.R265P Substitution - Missense 3:196885975-196885975 + TCGA-39-5036-01 COSM730503 c.1656G>T p.R552R Substitution - coding silent 3:196899960-196899960 + SNUH_G76_S1 COSM4418680 c.838A>C p.R280R Substitution - coding silent 3:196886019-196886019 + TCGA-D1-A168-01 COSM1043101 c.1682G>A p.R561H Substitution - Missense 3:196899986-196899986 + TCGA-AA-3492-01 COSM1422049 c.1667delA p.K557fs*27 Deletion - Frameshift 3:196899971-196899971 + 4_PRE-TREATMENT COSM1724278 c.651C>T p.F217F Substitution - coding silent 3:196885832-196885832 + 2492714 COSM5607009 c.1127C>T p.P376L Substitution - Missense 3:196886308-196886308 + TCGA-39-5037-01 COSM730501 c.2034G>T p.K678N Substitution - Missense 3:196927807-196927807 + 587342 COSM1225209 c.950A>G p.K317R Substitution - Missense 3:196886131-196886131 + HCC2998 COSM4631723 c.2103G>A p.T701T Substitution - coding silent 3:196927876-196927876 + TCGA-BR-6452-01 COSM4116443 c.725G>A p.R242Q Substitution - Missense 3:196885906-196885906 + 18472 COSM5615255 c.2257C>T p.L753F Substitution - Missense 3:196930912-196930912 + PT21_2 COSM5901273 c.317C>T p.S106F Substitution - Missense 3:196885498-196885498 + TCGA-BR-6452-01 COSM4116446 c.1752T>C p.N584N Substitution - coding silent 3:196900056-196900056 + T3101 COSM326443 c.512A>G p.N171S Substitution - Missense 3:196885693-196885693 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.240770 3q29 612845

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.2265+3528A>C 3 196661319 HC A C Missense p.Q402P c.1205A>C 3 196613257 BRCA AC TT Missense p.H604L c.1811_1812delinsTT 3 196630408 CM A G 3-UTRSNV . c.2265+1683A>G 3 196659474 HC A G 3-UTRSNV . c.2265+3473A>G 3 196661264 DLBCL A G Missense p.N135S c.404A>G 3 196612456 THCA A G Missense p.N171S c.512A>G 3 196612564 SCLC A T 3-UTRSNV . c.2265+3519A>T 3 196661310 HC A T Missense p.K336M c.1007A>T 3 196613059 LUSC C G Missense p.L577V c.1729C>G 3 196626904 HNSC C G Missense p.L637V c.1909C>G 3 196650309 RCCC C G Missense p.L64V c.190C>G 3 196612242 LUSC C T Missense p.H322Y c.964C>T 3 196613016 LUAD C T Missense p.H373Y c.1117C>T 3 196613169 BLCA C T Missense p.H373Y c.1117C>T 3 196613169 UCEC C T Missense p.H604Y c.1810C>T 3 196630407 CM C T Missense p.L526F c.1576C>T 3 196626599 CM C T Missense p.L654F c.1960C>T 3 196650360 LUSC C T Missense p.L753F c.2257C>T 3 196657783 NSCLC C T Missense p.P161L c.482C>T 3 196612534 HNSC C T Missense p.P470L c.1409C>T 3 196613461 CM C T Missense p.T319M c.956C>T 3 196613008 UCEC C T Synonymous p.V525V c.1575C>T 3 196626598 CM G A Missense p.E691K c.2071G>A 3 196654715 LGG G A Missense p.R265Q c.794G>A 3 196612846 LUSC G A Missense p.R46K c.137G>A 3 196612189 HNSC G A Missense p.R561H c.1682G>A 3 196626857 UCEC G A Nonsense p.W356* c.1068G>A 3 196613120 GBM G A Synonymous p.L371L c.1113G>A 3 196613165 LUSC G A Synonymous p.L681L c.2043G>A 3 196654687 LUSC G C Missense p.E179D c.537G>C 3 196612589 ALL G C Missense p.G181A c.542G>C 3 196612594 LUAD G C Missense p.Q441H c.1323G>C 3 196613375 SCLC G C Missense p.R207T c.620G>C 3 196612672 CM G C Missense p.R743S c.2229G>C 3 196657755 HNSC G T IntronicSNV . c.1884+1518G>T 3 196631999 MB G T Missense p.G209W c.625G>T 3 196612677 LUAD G T Missense p.K678N c.2034G>T 3 196654678 LUSC G T Missense p.R280M c.839G>T 3 196612891 CM G T Nonsense p.E370* c.1108G>T 3 196613160 STAD G T Synonymous p.L40L c.120G>T 3 196612172 LUAD G T Synonymous p.R552R c.1656G>T 3 196626831 LUSC T A Missense p.F716I c.2146T>A 3 196656543 STAD T C Missense p.F104L c.310T>C 3 196612362 CM T C Synonymous p.S126S c.378T>C 3 196612430 UCEC