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 2 48035540 48035540 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:48035540C>T c.2582G>A c.(2581-2583)cGa>cAa p.R861Q BLCA 2 48035567 48035567 + Splice_Site SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr2:48035567C>G c.e22-1 BLCA 2 48046149 48046149 + Silent SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr2:48046149C>T c.1866G>A c.(1864-1866)gtG>gtA p.V622V BLCA 2 48050450 48050450 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr2:48050450T>A c.1448A>T c.(1447-1449)gAa>gTa p.E483V BLCA 2 48061799 48061799 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr2:48061799C>T c.853G>A c.(853-855)Gat>Aat p.D285N BLCA 2 48061940 48061940 + Missense_Mutation SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr2:48061940C>T c.788G>A c.(787-789)aGa>aAa p.R263K BLCA 2 48063049 48063049 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr2:48063049C>T c.679G>A c.(679-681)Gaa>Aaa p.E227K BRCA 2 48046193 48046193 + Nonsense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:48046193C>A c.1822G>T c.(1822-1824)Gaa>Taa p.E608* BRCA 2 48047527 48047527 + Missense_Mutation SNP C C T TCGA-A2-A04X-01A-21W-A050-09 TCGA-A2-A04X-10A-01W-A055-09 g.chr2:48047527C>T c.1771G>A c.(1771-1773)Gat>Aat p.D591N BRCA 2 48049368 48049368 + Missense_Mutation SNP T T C TCGA-D8-A27P-01A-11D-A16D-09 TCGA-D8-A27P-10A-01D-A16D-09 g.chr2:48049368T>C c.1691A>G c.(1690-1692)aAt>aGt p.N564S BRCA 2 48050473 48050473 + Missense_Mutation SNP G G T TCGA-AR-A1AM-01A-41D-A228-09 TCGA-AR-A1AM-10A-01D-A22A-09 g.chr2:48050473G>T c.1425C>A c.(1423-1425)caC>caA p.H475Q CESC 2 48036826 48036826 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr2:48036826C>T c.2359G>A c.(2359-2361)Gca>Aca p.A787T CESC 2 48040408 48040408 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr2:48040408C>G c.2192G>C c.(2191-2193)aGa>aCa p.R731T CESC 2 48050303 48050303 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:48050303G>C c.1595C>G c.(1594-1596)tCa>tGa p.S532* CESC 2 48059543 48059543 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 g.chr2:48059543C>T c.1343G>A c.(1342-1344)cGg>cAg p.R448Q CESC 2 48059985 48059985 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chr2:48059985T>G c.1076A>C c.(1075-1077)aAt>aCt p.N359T CESC 2 48061746 48061747 + Frame_Shift_Ins INS - - AT TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 g.chr2:48061746_48061747insAT c.905_906insAT c.(904-906)attfs p.I302fs COAD 2 48035530 48035530 + Missense_Mutation SNP T T C TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr2:48035530T>C c.2592A>G c.(2590-2592)atA>atG p.I864M COAD 2 48035532 48035532 + Missense_Mutation SNP T T A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr2:48035532T>A c.2590A>T c.(2590-2592)Ata>Tta p.I864L COAD 2 48036826 48036826 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:48036826C>T c.2359G>A c.(2359-2361)Gca>Aca p.A787T COAD 2 48045924 48045924 + Missense_Mutation SNP T T C TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr2:48045924T>C c.2000A>G c.(1999-2001)cAg>cGg p.Q667R COAD 2 48045929 48045929 + Silent SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:48045929C>A c.1995G>T c.(1993-1995)ggG>ggT p.G665G COAD 2 48046168 48046168 + Missense_Mutation SNP G G C TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr2:48046168G>C c.1847C>G c.(1846-1848)aCt>aGt p.T616S COAD 2 48050432 48050432 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr2:48050432T>C c.1466A>G c.(1465-1467)aAc>aGc p.N489S COAD 2 48059591 48059591 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:48059591G>A c.1295C>T c.(1294-1296)gCg>gTg p.A432V COAD 2 48059591 48059591 + Missense_Mutation SNP G G A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr2:48059591G>A c.1295C>T c.(1294-1296)gCg>gTg p.A432V COAD 2 48059922 48059922 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:48059922C>T c.1139G>A c.(1138-1140)cGa>cAa p.R380Q COAD 2 48060189 48060192 + Frame_Shift_Del DEL TGTC TGTC - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:48060189_48060192delTGTC c.952_955delGACA c.(952-957)gacaaafs p.DK318fs COAD 2 48063016 48063016 + Nonsense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:48063016G>A c.712C>T c.(712-714)Cag>Tag p.Q238* COAD 2 48063069 48063069 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:48063069T>C c.659A>G c.(658-660)cAg>cGg p.Q220R COAD 2 48063108 48063108 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:48063108G>A c.620C>T c.(619-621)aCt>aTt p.T207I COAD 2 48066030 48066030 + Silent SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:48066030G>T c.555C>A c.(553-555)cgC>cgA p.R185R COAD 2 48066865 48066865 + Silent SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:48066865A>G c.276T>C c.(274-276)ccT>ccC p.P92P COAD 2 48066893 48066893 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:48066893G>A c.248C>T c.(247-249)gCa>gTa p.A83V COADREAD 2 48035530 48035530 + Missense_Mutation SNP T T C TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr2:48035530T>C c.2592A>G c.(2590-2592)atA>atG p.I864M COADREAD 2 48035532 48035532 + Missense_Mutation SNP T T A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr2:48035532T>A c.2590A>T c.(2590-2592)Ata>Tta p.I864L COADREAD 2 48036302 48036302 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:48036302G>T c.2550C>A c.(2548-2550)ttC>ttA p.F850L COADREAD 2 48036826 48036826 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:48036826C>T c.2359G>A c.(2359-2361)Gca>Aca p.A787T COADREAD 2 48045924 48045924 + Missense_Mutation SNP T T C TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr2:48045924T>C c.2000A>G c.(1999-2001)cAg>cGg p.Q667R COADREAD 2 48045929 48045929 + Silent SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:48045929C>A c.1995G>T c.(1993-1995)ggG>ggT p.G665G COADREAD 2 48046168 48046168 + Missense_Mutation SNP G G C TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr2:48046168G>C c.1847C>G c.(1846-1848)aCt>aGt p.T616S COADREAD 2 48050432 48050432 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr2:48050432T>C c.1466A>G c.(1465-1467)aAc>aGc p.N489S COADREAD 2 48059591 48059591 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:48059591G>A c.1295C>T c.(1294-1296)gCg>gTg p.A432V COADREAD 2 48059591 48059591 + Missense_Mutation SNP G G A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr2:48059591G>A c.1295C>T c.(1294-1296)gCg>gTg p.A432V COADREAD 2 48059922 48059922 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:48059922C>T c.1139G>A c.(1138-1140)cGa>cAa p.R380Q COADREAD 2 48060189 48060192 + Frame_Shift_Del DEL TGTC TGTC - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:48060189_48060192delTGTC c.952_955delGACA c.(952-957)gacaaafs p.DK318fs COADREAD 2 48063016 48063016 + Nonsense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:48063016G>A c.712C>T c.(712-714)Cag>Tag p.Q238* COADREAD 2 48063069 48063069 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:48063069T>C c.659A>G c.(658-660)cAg>cGg p.Q220R COADREAD 2 48063108 48063108 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:48063108G>A c.620C>T c.(619-621)aCt>aTt p.T207I COADREAD 2 48066030 48066030 + Silent SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:48066030G>T c.555C>A c.(553-555)cgC>cgA p.R185R COADREAD 2 48066865 48066865 + Silent SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:48066865A>G c.276T>C c.(274-276)ccT>ccC p.P92P COADREAD 2 48066893 48066893 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:48066893G>A c.248C>T c.(247-249)gCa>gTa p.A83V DLBC 2 48059539 48059539 + Silent SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr2:48059539A>G c.1347T>C c.(1345-1347)aaT>aaC p.N449N ESCA 2 48035283 48035283 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr2:48035283C>A c.2758G>T c.(2758-2760)Gaa>Taa p.E920* ESCA 2 48040404 48040405 + Frame_Shift_Ins INS - - TC TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 g.chr2:48040404_48040405insTC c.2195_2196insGA c.(2194-2196)gatfs p.D732fs ESCA 2 48132691 48132693 + In_Frame_Del DEL GCT GCT - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr2:48132691_48132693delGCT c.167_169delAGC c.(166-171)cagcct>cct p.Q56del GBMLGG 2 48035296 48035297 + Frame_Shift_Del DEL AG AG - TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 g.chr2:48035296_48035297delAG c.2744_2745delCT c.(2743-2745)tctfs p.S915fs GBMLGG 2 48040489 48040489 + Missense_Mutation SNP A A T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 g.chr2:48040489A>T c.2111T>A c.(2110-2112)aTa>aAa p.I704K HNSC 2 48035326 48035327 + Frame_Shift_Ins INS - - GG TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr2:48035326_48035327insGG c.2714_2715insCC c.(2713-2715)cctfs p.P905fs HNSC 2 48035487 48035487 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr2:48035487C>G c.2635G>C c.(2635-2637)Gag>Cag p.E879Q HNSC 2 48040949 48040949 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:48040949T>C c.2064A>G c.(2062-2064)ggA>ggG p.G688G HNSC 2 48059544 48059544 + Missense_Mutation SNP G G A TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr2:48059544G>A c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W HNSC 2 48059803 48059804 + Frame_Shift_Ins INS - - T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr2:48059803_48059804insT c.1167_1168insA c.(1165-1170)gtatgtfs p.C390fs HNSC 2 48063095 48063095 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr2:48063095C>T c.633G>A c.(631-633)atG>atA p.M211I HNSC 2 48066041 48066041 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 g.chr2:48066041C>T c.544G>A c.(544-546)Gta>Ata p.V182I KIPAN 2 48040362 48040364 + Intron DEL AAC AAC - TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr2:48040362_48040364delAAC KIPAN 2 48040432 48040432 + Missense_Mutation SNP C C A TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr2:48040432C>A c.2168G>T c.(2167-2169)aGa>aTa p.R723I KIPAN 2 48040950 48040950 + Missense_Mutation SNP C C T TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr2:48040950C>T c.2063G>A c.(2062-2064)gGa>gAa p.G688E KIPAN 2 48049436 48049436 + Missense_Mutation SNP A A C TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr2:48049436A>C c.1623T>G c.(1621-1623)aaT>aaG p.N541K KIPAN 2 48050392 48050392 + Silent SNP A A T TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr2:48050392A>T c.1506T>A c.(1504-1506)acT>acA p.T502T KIPAN 2 48050443 48050443 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:48050443delT c.1455delA c.(1453-1455)aaafs p.K485fs KIPAN 2 48066061 48066061 + Missense_Mutation SNP T T C TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr2:48066061T>C c.524A>G c.(523-525)gAt>gGt p.D175G KIRC 2 48040362 48040364 + Intron DEL AAC AAC - TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr2:48040362_48040364delAAC KIRC 2 48050392 48050392 + Silent SNP A A T TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr2:48050392A>T c.1506T>A c.(1504-1506)acT>acA p.T502T KIRC 2 48050443 48050443 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:48050443delT c.1455delA c.(1453-1455)aaafs p.K485fs KIRC 2 48066061 48066061 + Missense_Mutation SNP T T C TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr2:48066061T>C c.524A>G c.(523-525)gAt>gGt p.D175G KIRP 2 48040432 48040432 + Missense_Mutation SNP C C A TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr2:48040432C>A c.2168G>T c.(2167-2169)aGa>aTa p.R723I KIRP 2 48040950 48040950 + Missense_Mutation SNP C C T TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr2:48040950C>T c.2063G>A c.(2062-2064)gGa>gAa p.G688E KIRP 2 48049436 48049436 + Missense_Mutation SNP A A C TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr2:48049436A>C c.1623T>G c.(1621-1623)aaT>aaG p.N541K LAML 2 48036754 48036755 + Frame_Shift_Ins INS - - GA TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 g.chr2:48036754_48036755insGA c.2430_2431insTC c.(2428-2433)gttaatfs p.N811fs LGG 2 48035296 48035297 + Frame_Shift_Del DEL AG AG - TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 g.chr2:48035296_48035297delAG c.2744_2745delCT c.(2743-2745)tctfs p.S915fs LGG 2 48040489 48040489 + Missense_Mutation SNP A A T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 g.chr2:48040489A>T c.2111T>A c.(2110-2112)aTa>aAa p.I704K LIHC 2 48037548 48037548 + Missense_Mutation SNP C C A TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr2:48037548C>A c.2245G>T c.(2245-2247)Gat>Tat p.D749Y LIHC 2 48066828 48066828 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:48066828delT c.313delA c.(313-315)actfs p.T105fs LIHC 2 48066902 48066902 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:48066902T>C c.239A>G c.(238-240)gAt>gGt p.D80G LIHC 2 48132835 48132835 + Missense_Mutation SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr2:48132835G>A c.25C>T c.(25-27)Cgg>Tgg p.R9W LUAD 2 48050414 48050414 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 g.chr2:48050414C>G c.1484G>C c.(1483-1485)tGt>tCt p.C495S LUAD 2 48050495 48050495 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:48050495T>A c.1403A>T c.(1402-1404)tAc>tTc p.Y468F LUAD 2 48059590 48059590 + Silent SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:48059590C>A c.1296G>T c.(1294-1296)gcG>gcT p.A432A LUAD 2 48060016 48060016 + Missense_Mutation SNP T T A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr2:48060016T>A c.1045A>T c.(1045-1047)Aac>Tac p.N349Y LUAD 2 48061991 48061991 + Missense_Mutation SNP T T A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr2:48061991T>A c.737A>T c.(736-738)aAg>aTg p.K246M LUAD 2 48066010 48066010 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr2:48066010T>A c.575A>T c.(574-576)gAt>gTt p.D192V LUSC 2 48035532 48035532 + Missense_Mutation SNP T T C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr2:48035532T>C c.2590A>G c.(2590-2592)Ata>Gta p.I864V LUSC 2 48040932 48040932 + Missense_Mutation SNP G G A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr2:48040932G>A c.2081C>T c.(2080-2082)tCt>tTt p.S694F LUSC 2 48059965 48059965 + Missense_Mutation SNP T T A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr2:48059965T>A c.1096A>T c.(1096-1098)Att>Ttt p.I366F LUSC 2 48059968 48059968 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:48059968C>T c.1093G>A c.(1093-1095)Gag>Aag p.E365K LUSC 2 48063100 48063100 + Missense_Mutation SNP T T C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr2:48063100T>C c.628A>G c.(628-630)Atg>Gtg p.M210V LUSC 2 48066854 48066854 + Missense_Mutation SNP T T C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr2:48066854T>C c.287A>G c.(286-288)aAt>aGt p.N96S OV 2 48035532 48035532 + Missense_Mutation SNP T T C TCGA-23-1119-01A-02W-0484-10 TCGA-23-1119-10A-01W-0484-10 g.chr2:48035532T>C c.2590A>G c.(2590-2592)Ata>Gta p.I864V OV 2 48061973 48061973 + Missense_Mutation SNP T T C TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 g.chr2:48061973T>C c.755A>G c.(754-756)cAt>cGt p.H252R PAAD 2 48037464 48037464 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:48037464A>G c.2329T>C c.(2329-2331)Ttt>Ctt p.F777L PAAD 2 48066031 48066031 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 g.chr2:48066031C>T c.554G>A c.(553-555)cGc>cAc p.R185H PRAD 2 48059590 48059590 + Silent SNP C C T TCGA-EJ-5498-01A-01D-1576-08 TCGA-EJ-5498-10A-01D-1577-08 g.chr2:48059590C>T c.1296G>A c.(1294-1296)gcG>gcA p.A432A READ 2 48036302 48036302 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:48036302G>T c.2550C>A c.(2548-2550)ttC>ttA p.F850L SKCM 2 48036402 48036402 + Missense_Mutation SNP T T A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:48036402T>A c.2450A>T c.(2449-2451)aAc>aTc p.N817I SKCM 2 48036847 48036847 + Splice_Site SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:48036847C>G c.e20-1 SKCM 2 48040456 48040456 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:48040456T>G c.2144A>C c.(2143-2145)aAg>aCg p.K715T SKCM 2 48047553 48047553 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr2:48047553G>A c.1745C>T c.(1744-1746)cCa>cTa p.P582L SKCM 2 48050434 48050434 + Silent SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr2:48050434A>G c.1464T>C c.(1462-1464)gcT>gcC p.A488A SKCM 2 48059943 48059943 + Missense_Mutation SNP A A T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:48059943A>T c.1118T>A c.(1117-1119)aTt>aAt p.I373N SKCM 2 48066045 48066045 + Silent SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:48066045A>G c.540T>C c.(538-540)gcT>gcC p.A180A SKCM 2 48066079 48066079 + Missense_Mutation SNP G G A TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr2:48066079G>A c.506C>T c.(505-507)tCt>tTt p.S169F SKCM 2 48066818 48066818 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:48066818G>A c.323C>T c.(322-324)cCg>cTg p.P108L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 48028136 48028136 single base substitution G A intron_variant BLCA-US 2 48027189 48027189 single base substitution C G intron_variant BLCA-US 2 48027760 48027760 single base substitution G T intron_variant BLCA-US 2 48061799 48061799 single base substitution C T downstream_gene_variant BLCA-US 2 48061799 48061799 single base substitution C T exon_variant BLCA-US 2 48061799 48061799 single base substitution C T missense_variant D201N 601G>A BLCA-US 2 48061799 48061799 single base substitution C T missense_variant D285N 853G>A BLCA-US 2 48061799 48061799 single base substitution C T missense_variant D76N 226G>A BLCA-US 2 48061799 48061799 single base substitution C T upstream_gene_variant BOCA-UK 2 48033641 48033641 single base substitution G A downstream_gene_variant BOCA-UK 2 48033641 48033641 single base substitution G A intron_variant BOCA-UK 2 48040292 48040292 single base substitution T C intron_variant BOCA-UK 2 48040292 48040292 single base substitution T C missense_variant N561D 1681A>G BOCA-UK 2 48040292 48040292 single base substitution T C upstream_gene_variant BRCA-EU 2 48016138 48016138 single base substitution C T downstream_gene_variant BRCA-EU 2 48016321 48016405 deletion of <=200bp CCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATT - downstream_gene_variant BRCA-EU 2 48017394 48017394 single base substitution C G intron_variant BRCA-EU 2 48017395 48017395 single base substitution T C intron_variant BRCA-EU 2 48018476 48018477 deletion of <=200bp TC - intron_variant BRCA-EU 2 48018721 48018721 single base substitution G T intron_variant BRCA-EU 2 48018909 48018909 single base substitution C A intron_variant BRCA-EU 2 48020768 48020768 insertion of <=200bp - A intron_variant BRCA-EU 2 48021491 48021491 single base substitution A T intron_variant BRCA-EU 2 48022308 48022308 single base substitution A G intron_variant BRCA-EU 2 48022595 48022595 single base substitution A G intron_variant BRCA-EU 2 48022645 48022645 single base substitution C G intron_variant BRCA-EU 2 48025175 48025175 single base substitution C G intron_variant BRCA-EU 2 48026021 48026021 single base substitution G A intron_variant BRCA-EU 2 48027193 48027193 single base substitution C T intron_variant BRCA-EU 2 48028104 48028104 single base substitution C T intron_variant BRCA-EU 2 48028316 48028316 single base substitution T A intron_variant BRCA-EU 2 48028359 48028359 single base substitution A G intron_variant BRCA-EU 2 48028591 48028591 single base substitution C G intron_variant BRCA-EU 2 48030640 48030640 insertion of <=200bp - C downstream_gene_variant BRCA-EU 2 48030640 48030640 insertion of <=200bp - C intron_variant BRCA-EU 2 48031539 48031539 single base substitution C G downstream_gene_variant BRCA-EU 2 48031539 48031539 single base substitution C G intron_variant BRCA-EU 2 48032741 48032741 single base substitution T C downstream_gene_variant BRCA-EU 2 48032741 48032741 single base substitution T C intron_variant BRCA-EU 2 48033293 48033293 single base substitution T A downstream_gene_variant BRCA-EU 2 48033293 48033293 single base substitution T A intron_variant BRCA-EU 2 48035442 48035442 single base substitution A T downstream_gene_variant BRCA-EU 2 48035442 48035442 single base substitution A T intron_variant BRCA-EU 2 48035784 48035784 single base substitution T C downstream_gene_variant BRCA-EU 2 48035784 48035784 single base substitution T C intron_variant BRCA-EU 2 48040468 48040468 single base substitution C G exon_variant BRCA-EU 2 48040468 48040468 single base substitution C G missense_variant G135A 404G>C BRCA-EU 2 48040468 48040468 single base substitution C G missense_variant G502A 1505G>C BRCA-EU 2 48040468 48040468 single base substitution C G missense_variant G627A 1880G>C BRCA-EU 2 48040468 48040468 single base substitution C G missense_variant G711A 2132G>C BRCA-EU 2 48040468 48040468 single base substitution C G upstream_gene_variant BRCA-EU 2 48040747 48040747 single base substitution T G downstream_gene_variant BRCA-EU 2 48040747 48040747 single base substitution T G intron_variant BRCA-EU 2 48040747 48040747 single base substitution T G upstream_gene_variant BRCA-EU 2 48042211 48042211 single base substitution G C downstream_gene_variant BRCA-EU 2 48042211 48042211 single base substitution G C intron_variant BRCA-EU 2 48042211 48042211 single base substitution G C upstream_gene_variant BRCA-EU 2 48042286 48042286 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 48042286 48042286 insertion of <=200bp - T intron_variant BRCA-EU 2 48042286 48042286 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 48042620 48042620 single base substitution G A downstream_gene_variant BRCA-EU 2 48042620 48042620 single base substitution G A intron_variant BRCA-EU 2 48042620 48042620 single base substitution G A upstream_gene_variant BRCA-EU 2 48043553 48043553 single base substitution C T downstream_gene_variant BRCA-EU 2 48043553 48043553 single base substitution C T intron_variant BRCA-EU 2 48043553 48043553 single base substitution C T upstream_gene_variant BRCA-EU 2 48043933 48043943 deletion of <=200bp CTTAACATATT - downstream_gene_variant BRCA-EU 2 48043933 48043943 deletion of <=200bp CTTAACATATT - intron_variant BRCA-EU 2 48043933 48043943 deletion of <=200bp CTTAACATATT - upstream_gene_variant BRCA-EU 2 48044063 48044063 single base substitution A G downstream_gene_variant BRCA-EU 2 48044063 48044063 single base substitution A G intron_variant BRCA-EU 2 48044063 48044063 single base substitution A G upstream_gene_variant BRCA-EU 2 48048743 48048743 single base substitution C T intron_variant BRCA-EU 2 48050903 48050903 deletion of <=200bp A - intron_variant BRCA-EU 2 48050903 48050903 single base substitution A T intron_variant BRCA-EU 2 48051848 48051848 single base substitution C T intron_variant BRCA-EU 2 48052544 48052544 single base substitution C A intron_variant BRCA-EU 2 48053452 48053452 single base substitution T C intron_variant BRCA-EU 2 48053946 48053946 single base substitution C A intron_variant BRCA-EU 2 48055536 48055536 single base substitution C G intron_variant BRCA-EU 2 48056922 48056922 single base substitution T G intron_variant BRCA-EU 2 48056923 48056923 single base substitution C A intron_variant BRCA-EU 2 48057598 48057598 single base substitution G A intron_variant BRCA-EU 2 48061507 48061507 insertion of <=200bp - G downstream_gene_variant BRCA-EU 2 48061507 48061507 insertion of <=200bp - G intron_variant BRCA-EU 2 48061507 48061507 insertion of <=200bp - G upstream_gene_variant BRCA-EU 2 48066778 48066778 single base substitution T A splice_region_variant BRCA-EU 2 48066778 48066778 single base substitution T A upstream_gene_variant BRCA-EU 2 48067317 48067317 single base substitution C T intron_variant BRCA-EU 2 48067317 48067317 single base substitution C T upstream_gene_variant BRCA-EU 2 48067391 48067391 insertion of <=200bp - T intron_variant BRCA-EU 2 48067391 48067391 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 48067744 48067744 single base substitution C T intron_variant BRCA-EU 2 48067744 48067744 single base substitution C T upstream_gene_variant BRCA-EU 2 48068098 48068098 single base substitution G A intron_variant BRCA-EU 2 48068098 48068098 single base substitution G A upstream_gene_variant BRCA-EU 2 48068337 48068337 insertion of <=200bp - A intron_variant BRCA-EU 2 48068429 48068429 single base substitution G C intron_variant BRCA-EU 2 48068443 48068443 single base substitution A G intron_variant BRCA-EU 2 48068536 48068536 single base substitution G C intron_variant BRCA-EU 2 48071492 48071492 single base substitution G A intron_variant BRCA-EU 2 48071572 48071572 single base substitution A C intron_variant BRCA-EU 2 48073445 48073445 single base substitution A G intron_variant BRCA-EU 2 48073613 48073613 single base substitution A T intron_variant BRCA-EU 2 48074632 48074632 single base substitution G C intron_variant BRCA-EU 2 48075868 48075868 single base substitution A T intron_variant BRCA-EU 2 48076588 48076588 single base substitution A G intron_variant BRCA-EU 2 48078058 48078058 single base substitution G C intron_variant BRCA-EU 2 48078393 48078393 single base substitution T A intron_variant BRCA-EU 2 48079245 48079245 single base substitution C A intron_variant BRCA-EU 2 48080309 48080309 single base substitution C G intron_variant BRCA-EU 2 48080782 48080782 single base substitution C T intron_variant BRCA-EU 2 48080881 48080881 single base substitution C A intron_variant BRCA-EU 2 48084248 48084248 single base substitution T C intron_variant BRCA-EU 2 48086836 48086836 single base substitution G A intron_variant BRCA-EU 2 48087532 48087532 single base substitution G C intron_variant BRCA-EU 2 48087559 48087559 single base substitution T C intron_variant BRCA-EU 2 48087845 48087845 single base substitution C A intron_variant BRCA-EU 2 48088712 48088712 single base substitution C G intron_variant BRCA-EU 2 48090705 48090705 single base substitution C T intron_variant BRCA-EU 2 48092046 48092046 single base substitution C G intron_variant BRCA-EU 2 48092928 48092928 single base substitution A C intron_variant BRCA-EU 2 48092928 48092928 single base substitution A C splice_region_variant BRCA-EU 2 48094364 48094364 single base substitution C A intron_variant BRCA-EU 2 48094682 48094682 single base substitution G C intron_variant BRCA-EU 2 48094791 48094791 single base substitution C A intron_variant BRCA-EU 2 48096517 48096517 single base substitution G A intron_variant BRCA-EU 2 48098420 48098420 single base substitution A T intron_variant BRCA-EU 2 48098929 48098929 single base substitution G A intron_variant BRCA-EU 2 48099003 48099003 single base substitution A G intron_variant BRCA-EU 2 48100102 48100102 single base substitution T A intron_variant BRCA-EU 2 48100574 48100574 single base substitution C T intron_variant BRCA-EU 2 48100575 48100575 single base substitution G A intron_variant BRCA-EU 2 48100592 48100592 single base substitution C T intron_variant BRCA-EU 2 48100602 48100602 single base substitution A T intron_variant BRCA-EU 2 48100708 48100708 single base substitution C T intron_variant BRCA-EU 2 48101054 48101054 single base substitution T A intron_variant BRCA-EU 2 48101537 48101537 single base substitution T A intron_variant BRCA-EU 2 48106349 48106349 single base substitution G T intron_variant BRCA-EU 2 48106747 48106747 single base substitution C G intron_variant BRCA-EU 2 48108181 48108181 single base substitution C T intron_variant BRCA-EU 2 48108822 48108822 single base substitution G C intron_variant BRCA-EU 2 48109108 48109108 single base substitution A G intron_variant BRCA-EU 2 48109642 48109642 single base substitution G T intron_variant BRCA-EU 2 48111326 48111326 single base substitution C T intron_variant BRCA-EU 2 48111949 48111949 single base substitution T C intron_variant BRCA-EU 2 48112021 48112021 single base substitution G A intron_variant BRCA-EU 2 48112141 48112141 single base substitution C T intron_variant BRCA-EU 2 48115326 48115326 single base substitution C G intron_variant BRCA-EU 2 48115926 48115926 single base substitution C A intron_variant BRCA-EU 2 48115926 48115926 single base substitution C A upstream_gene_variant BRCA-EU 2 48115995 48115995 single base substitution G T intron_variant BRCA-EU 2 48115995 48115995 single base substitution G T upstream_gene_variant BRCA-EU 2 48116572 48116572 single base substitution A T intron_variant BRCA-EU 2 48116572 48116572 single base substitution A T upstream_gene_variant BRCA-EU 2 48117170 48117170 single base substitution A G intron_variant BRCA-EU 2 48117170 48117170 single base substitution A G upstream_gene_variant BRCA-EU 2 48117263 48117263 insertion of <=200bp - TTAT intron_variant BRCA-EU 2 48117263 48117263 insertion of <=200bp - TTAT upstream_gene_variant BRCA-EU 2 48117474 48117474 single base substitution T G intron_variant BRCA-EU 2 48117474 48117474 single base substitution T G upstream_gene_variant BRCA-EU 2 48117859 48117859 single base substitution C G intron_variant BRCA-EU 2 48117859 48117859 single base substitution C G upstream_gene_variant BRCA-EU 2 48118047 48118047 single base substitution C G intron_variant BRCA-EU 2 48118047 48118047 single base substitution C G upstream_gene_variant BRCA-EU 2 48118361 48118361 single base substitution C T intron_variant BRCA-EU 2 48118361 48118361 single base substitution C T upstream_gene_variant BRCA-EU 2 48119997 48119997 deletion of <=200bp T - intron_variant BRCA-EU 2 48119997 48119997 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 48120691 48120691 single base substitution A C intron_variant BRCA-EU 2 48120691 48120691 single base substitution A C upstream_gene_variant BRCA-EU 2 48121617 48121617 single base substitution T C intron_variant BRCA-EU 2 48121881 48121881 single base substitution C T intron_variant BRCA-EU 2 48122841 48122841 deletion of <=200bp T - intron_variant BRCA-EU 2 48123281 48123281 single base substitution G A intron_variant BRCA-EU 2 48124423 48124423 single base substitution A T intron_variant BRCA-EU 2 48124614 48124614 single base substitution T C intron_variant BRCA-EU 2 48125760 48125760 single base substitution C T intron_variant BRCA-EU 2 48125890 48125890 single base substitution T C intron_variant BRCA-EU 2 48126185 48126185 single base substitution G A intron_variant BRCA-EU 2 48127175 48127175 single base substitution G T intron_variant BRCA-EU 2 48127400 48127400 single base substitution G A intron_variant BRCA-EU 2 48128052 48128053 deletion of <=200bp TA - intron_variant BRCA-EU 2 48129120 48129120 single base substitution G T intron_variant BRCA-EU 2 48129271 48129271 single base substitution C T intron_variant BRCA-EU 2 48130172 48130176 deletion of <=200bp CCAAA - intron_variant BRCA-EU 2 48130350 48130350 single base substitution G A intron_variant BRCA-EU 2 48130773 48130773 single base substitution T C intron_variant BRCA-EU 2 48130815 48130815 single base substitution C G intron_variant BRCA-EU 2 48130961 48130961 single base substitution G A intron_variant BRCA-EU 2 48132194 48132194 single base substitution C G intron_variant BRCA-EU 2 48133248 48133248 single base substitution C T upstream_gene_variant BRCA-EU 2 48133449 48133449 single base substitution C G upstream_gene_variant BRCA-EU 2 48134214 48134214 single base substitution G C upstream_gene_variant BRCA-EU 2 48134635 48134635 single base substitution C G upstream_gene_variant BRCA-EU 2 48135288 48135288 single base substitution G C upstream_gene_variant BRCA-EU 2 48135486 48135486 single base substitution G A upstream_gene_variant BRCA-EU 2 48135957 48135957 single base substitution C A upstream_gene_variant BRCA-FR 2 48016138 48016138 single base substitution C T downstream_gene_variant BRCA-FR 2 48025175 48025175 single base substitution C G intron_variant BRCA-FR 2 48031099 48031099 single base substitution A C downstream_gene_variant BRCA-FR 2 48031099 48031099 single base substitution A C intron_variant BRCA-FR 2 48038380 48038380 single base substitution T A downstream_gene_variant BRCA-FR 2 48038380 48038380 single base substitution T A exon_variant BRCA-FR 2 48038380 48038380 single base substitution T A intron_variant BRCA-FR 2 48038380 48038380 single base substitution T A upstream_gene_variant BRCA-FR 2 48042211 48042211 single base substitution G C downstream_gene_variant BRCA-FR 2 48042211 48042211 single base substitution G C intron_variant BRCA-FR 2 48042211 48042211 single base substitution G C upstream_gene_variant BRCA-FR 2 48045238 48045238 single base substitution G C downstream_gene_variant BRCA-FR 2 48045238 48045238 single base substitution G C intron_variant BRCA-FR 2 48045238 48045238 single base substitution G C upstream_gene_variant BRCA-FR 2 48048376 48048376 single base substitution T C intron_variant BRCA-FR 2 48057712 48057712 single base substitution G A intron_variant BRCA-FR 2 48066778 48066778 single base substitution T A splice_region_variant BRCA-FR 2 48066778 48066778 single base substitution T A upstream_gene_variant BRCA-FR 2 48073445 48073445 single base substitution A G intron_variant BRCA-FR 2 48077711 48077711 single base substitution G C intron_variant BRCA-FR 2 48088712 48088712 single base substitution C G intron_variant BRCA-FR 2 48108822 48108822 single base substitution G C intron_variant BRCA-FR 2 48111137 48111137 single base substitution G A intron_variant BRCA-FR 2 48111326 48111326 single base substitution C T intron_variant BRCA-FR 2 48125760 48125760 single base substitution C T intron_variant BRCA-FR 2 48127175 48127175 single base substitution G T intron_variant BRCA-FR 2 48127400 48127400 single base substitution G A intron_variant BRCA-FR 2 48133449 48133449 single base substitution C G upstream_gene_variant BRCA-KR 2 48037557 48037557 single base substitution C T downstream_gene_variant BRCA-KR 2 48037557 48037557 single base substitution C T exon_variant BRCA-KR 2 48037557 48037557 single base substitution C T missense_variant E170K 508G>A BRCA-KR 2 48037557 48037557 single base substitution C T missense_variant E662K 1984G>A BRCA-KR 2 48037557 48037557 single base substitution C T missense_variant E746K 2236G>A BRCA-KR 2 48037557 48037557 single base substitution C T upstream_gene_variant BRCA-KR 2 48066766 48066766 single base substitution T C intron_variant BRCA-KR 2 48066766 48066766 single base substitution T C upstream_gene_variant BRCA-UK 2 48031137 48031137 single base substitution G A downstream_gene_variant BRCA-UK 2 48031137 48031137 single base substitution G A intron_variant BRCA-UK 2 48035442 48035442 single base substitution A T downstream_gene_variant BRCA-UK 2 48035442 48035442 single base substitution A T intron_variant BRCA-UK 2 48092928 48092928 single base substitution A C intron_variant BRCA-UK 2 48092928 48092928 single base substitution A C splice_region_variant BRCA-UK 2 48111949 48111949 single base substitution T C intron_variant BRCA-UK 2 48128403 48128403 single base substitution G C intron_variant BRCA-UK 2 48130350 48130350 single base substitution G A intron_variant BRCA-US 2 48026509 48026509 single base substitution G T intron_variant BRCA-US 2 48026682 48026682 single base substitution T G intron_variant BRCA-US 2 48026709 48026709 single base substitution T G intron_variant BRCA-US 2 48026911 48026911 single base substitution G C intron_variant BRCA-US 2 48027198 48027198 single base substitution A C intron_variant BRCA-US 2 48027214 48027214 single base substitution C G intron_variant BRCA-US 2 48027782 48027782 deletion of <=200bp T - intron_variant BRCA-US 2 48027886 48027886 single base substitution C T intron_variant BRCA-US 2 48028099 48028099 single base substitution G A intron_variant BRCA-US 2 48028268 48028268 single base substitution C T intron_variant BRCA-US 2 48030639 48030639 insertion of <=200bp - CC downstream_gene_variant BRCA-US 2 48030639 48030639 insertion of <=200bp - CC intron_variant BRCA-US 2 48032158 48032158 single base substitution T A downstream_gene_variant BRCA-US 2 48032158 48032158 single base substitution T A intron_variant BRCA-US 2 48033789 48033789 single base substitution C T downstream_gene_variant BRCA-US 2 48033789 48033789 single base substitution C T intron_variant BRCA-US 2 48046193 48046193 single base substitution C A exon_variant BRCA-US 2 48046193 48046193 single base substitution C A stop_gained E32* 94G>T BRCA-US 2 48046193 48046193 single base substitution C A stop_gained E399* 1195G>T BRCA-US 2 48046193 48046193 single base substitution C A stop_gained E524* 1570G>T BRCA-US 2 48046193 48046193 single base substitution C A stop_gained E608* 1822G>T BRCA-US 2 48046193 48046193 single base substitution C A upstream_gene_variant BRCA-US 2 48047527 48047527 single base substitution C T exon_variant BRCA-US 2 48047527 48047527 single base substitution C T intron_variant BRCA-US 2 48047527 48047527 single base substitution C T missense_variant D382N 1144G>A BRCA-US 2 48047527 48047527 single base substitution C T missense_variant D507N 1519G>A BRCA-US 2 48047527 48047527 single base substitution C T missense_variant D591N 1771G>A BRCA-US 2 48049368 48049368 single base substitution T C exon_variant BRCA-US 2 48049368 48049368 single base substitution T C missense_variant M20V 58A>G BRCA-US 2 48049368 48049368 single base substitution T C missense_variant N355S 1064A>G BRCA-US 2 48049368 48049368 single base substitution T C missense_variant N480S 1439A>G BRCA-US 2 48049368 48049368 single base substitution T C missense_variant N564S 1691A>G BRCA-US 2 48050473 48050473 single base substitution G T 5_prime_UTR_variant BRCA-US 2 48050473 48050473 single base substitution G T exon_variant BRCA-US 2 48050473 48050473 single base substitution G T missense_variant H266Q 798C>A BRCA-US 2 48050473 48050473 single base substitution G T missense_variant H391Q 1173C>A BRCA-US 2 48050473 48050473 single base substitution G T missense_variant H475Q 1425C>A BRCA-US 2 48060178 48060178 deletion of <=200bp A - downstream_gene_variant BRCA-US 2 48060178 48060178 deletion of <=200bp A - exon_variant BRCA-US 2 48060178 48060178 deletion of <=200bp A - frameshift_variant I113 BRCA-US 2 48060178 48060178 deletion of <=200bp A - frameshift_variant I238 BRCA-US 2 48060178 48060178 deletion of <=200bp A - frameshift_variant I322 BRCA-US 2 48060178 48060178 deletion of <=200bp A - upstream_gene_variant BTCA-JP 2 48027605 48027605 single base substitution T C intron_variant BTCA-JP 2 48027887 48027887 single base substitution G T intron_variant BTCA-JP 2 48028284 48028284 single base substitution C T intron_variant BTCA-JP 2 48030573 48030573 single base substitution C A downstream_gene_variant BTCA-JP 2 48030573 48030573 single base substitution C A intron_variant BTCA-JP 2 48030640 48030640 deletion of <=200bp C - downstream_gene_variant BTCA-JP 2 48030640 48030640 deletion of <=200bp C - intron_variant BTCA-JP 2 48033644 48033644 single base substitution C G downstream_gene_variant BTCA-JP 2 48033644 48033644 single base substitution C G intron_variant BTCA-JP 2 48033767 48033767 single base substitution G A downstream_gene_variant BTCA-JP 2 48033767 48033767 single base substitution G A intron_variant BTCA-JP 2 48033910 48033910 single base substitution A T downstream_gene_variant BTCA-JP 2 48033910 48033910 single base substitution A T exon_variant BTCA-JP 2 48033910 48033910 single base substitution A T intron_variant BTCA-JP 2 48049460 48049460 deletion of <=200bp A - intron_variant BTCA-JP 2 48049460 48049460 insertion of <=200bp - A intron_variant BTCA-JP 2 48066549 48066549 single base substitution A T intron_variant BTCA-JP 2 48066549 48066549 single base substitution A T upstream_gene_variant BTCA-JP 2 48066702 48066702 deletion of <=200bp A - intron_variant BTCA-JP 2 48066702 48066702 deletion of <=200bp A - upstream_gene_variant CESC-US 2 48012058 48012058 single base substitution G C downstream_gene_variant CESC-US 2 48026985 48026985 single base substitution G C intron_variant CESC-US 2 48032840 48032840 single base substitution G T downstream_gene_variant CESC-US 2 48032840 48032840 single base substitution G T intron_variant CESC-US 2 48036826 48036826 single base substitution C T downstream_gene_variant CESC-US 2 48036826 48036826 single base substitution C T exon_variant CESC-US 2 48036826 48036826 single base substitution C T missense_variant A211T 631G>A CESC-US 2 48036826 48036826 single base substitution C T missense_variant A703T 2107G>A CESC-US 2 48036826 48036826 single base substitution C T missense_variant A787T 2359G>A CESC-US 2 48036826 48036826 single base substitution C T upstream_gene_variant CESC-US 2 48040408 48040408 single base substitution C G exon_variant CESC-US 2 48040408 48040408 single base substitution C G missense_variant R155T 464G>C CESC-US 2 48040408 48040408 single base substitution C G missense_variant R522T 1565G>C CESC-US 2 48040408 48040408 single base substitution C G missense_variant R647T 1940G>C CESC-US 2 48040408 48040408 single base substitution C G missense_variant R731T 2192G>C CESC-US 2 48040408 48040408 single base substitution C G upstream_gene_variant CESC-US 2 48050303 48050303 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 2 48050303 48050303 single base substitution G C exon_variant CESC-US 2 48050303 48050303 single base substitution G C stop_gained S323* 968C>G CESC-US 2 48050303 48050303 single base substitution G C stop_gained S448* 1343C>G CESC-US 2 48050303 48050303 single base substitution G C stop_gained S532* 1595C>G CESC-US 2 48059543 48059543 single base substitution C T 5_prime_UTR_variant CESC-US 2 48059543 48059543 single base substitution C T downstream_gene_variant CESC-US 2 48059543 48059543 single base substitution C T exon_variant CESC-US 2 48059543 48059543 single base substitution C T missense_variant R239Q 716G>A CESC-US 2 48059543 48059543 single base substitution C T missense_variant R364Q 1091G>A CESC-US 2 48059543 48059543 single base substitution C T missense_variant R448Q 1343G>A CESC-US 2 48059985 48059985 single base substitution T G downstream_gene_variant CESC-US 2 48059985 48059985 single base substitution T G exon_variant CESC-US 2 48059985 48059985 single base substitution T G missense_variant N150T 449A>C CESC-US 2 48059985 48059985 single base substitution T G missense_variant N275T 824A>C CESC-US 2 48059985 48059985 single base substitution T G missense_variant N359T 1076A>C CESC-US 2 48059985 48059985 single base substitution T G upstream_gene_variant CESC-US 2 48061746 48061746 insertion of <=200bp - AT downstream_gene_variant CESC-US 2 48061746 48061746 insertion of <=200bp - AT exon_variant CESC-US 2 48061746 48061746 insertion of <=200bp - AT frameshift_variant I218I? CESC-US 2 48061746 48061746 insertion of <=200bp - AT frameshift_variant I302I? CESC-US 2 48061746 48061746 insertion of <=200bp - AT frameshift_variant I93I? CESC-US 2 48061746 48061746 insertion of <=200bp - AT upstream_gene_variant CLLE-ES 2 48013596 48013596 single base substitution C G downstream_gene_variant CLLE-ES 2 48022595 48022595 single base substitution A G intron_variant CLLE-ES 2 48040181 48040181 single base substitution C A 3_prime_UTR_variant CLLE-ES 2 48040181 48040181 single base substitution C A intron_variant CLLE-ES 2 48040181 48040181 single base substitution C A upstream_gene_variant CLLE-ES 2 48090203 48090203 insertion of <=200bp - C intron_variant CLLE-ES 2 48105753 48105753 single base substitution G C intron_variant CLLE-ES 2 48107424 48107424 single base substitution T C intron_variant CLLE-ES 2 48123476 48123476 single base substitution T C intron_variant COAD-US 2 48023115 48023115 single base substitution T C intron_variant COAD-US 2 48027317 48027317 single base substitution G A intron_variant COAD-US 2 48027747 48027747 single base substitution G T intron_variant COAD-US 2 48030613 48030613 single base substitution G A downstream_gene_variant COAD-US 2 48030613 48030613 single base substitution G A intron_variant COAD-US 2 48030639 48030639 insertion of <=200bp - C downstream_gene_variant COAD-US 2 48030639 48030639 insertion of <=200bp - C intron_variant COAD-US 2 48030640 48030640 deletion of <=200bp C - downstream_gene_variant COAD-US 2 48030640 48030640 deletion of <=200bp C - intron_variant COAD-US 2 48030686 48030686 single base substitution G A downstream_gene_variant COAD-US 2 48030686 48030686 single base substitution G A intron_variant COAD-US 2 48030691 48030691 insertion of <=200bp - T downstream_gene_variant COAD-US 2 48030691 48030691 insertion of <=200bp - T intron_variant COAD-US 2 48032087 48032087 single base substitution C T downstream_gene_variant COAD-US 2 48032087 48032087 single base substitution C T intron_variant COAD-US 2 48033784 48033784 single base substitution T C downstream_gene_variant COAD-US 2 48033784 48033784 single base substitution T C intron_variant COAD-US 2 48045924 48045924 single base substitution T C exon_variant COAD-US 2 48045924 48045924 single base substitution T C missense_variant Q458R 1373A>G COAD-US 2 48045924 48045924 single base substitution T C missense_variant Q583R 1748A>G COAD-US 2 48045924 48045924 single base substitution T C missense_variant Q667R 2000A>G COAD-US 2 48045924 48045924 single base substitution T C missense_variant Q91R 272A>G COAD-US 2 48045924 48045924 single base substitution T C upstream_gene_variant COAD-US 2 48045929 48045929 single base substitution C A exon_variant COAD-US 2 48045929 48045929 single base substitution C A synonymous_variant G456G 1368G>T COAD-US 2 48045929 48045929 single base substitution C A synonymous_variant G581G 1743G>T COAD-US 2 48045929 48045929 single base substitution C A synonymous_variant G665G 1995G>T COAD-US 2 48045929 48045929 single base substitution C A synonymous_variant G89G 267G>T COAD-US 2 48045929 48045929 single base substitution C A upstream_gene_variant COAD-US 2 48050432 48050432 single base substitution T C 5_prime_UTR_variant COAD-US 2 48050432 48050432 single base substitution T C exon_variant COAD-US 2 48050432 48050432 single base substitution T C missense_variant N280S 839A>G COAD-US 2 48050432 48050432 single base substitution T C missense_variant N405S 1214A>G COAD-US 2 48050432 48050432 single base substitution T C missense_variant N489S 1466A>G COAD-US 2 48059922 48059922 single base substitution C T downstream_gene_variant COAD-US 2 48059922 48059922 single base substitution C T exon_variant COAD-US 2 48059922 48059922 single base substitution C T missense_variant R171Q 512G>A COAD-US 2 48059922 48059922 single base substitution C T missense_variant R296Q 887G>A COAD-US 2 48059922 48059922 single base substitution C T missense_variant R380Q 1139G>A COAD-US 2 48059922 48059922 single base substitution C T upstream_gene_variant COAD-US 2 48060189 48060192 deletion of <=200bp TGTC - downstream_gene_variant COAD-US 2 48060189 48060192 deletion of <=200bp TGTC - exon_variant COAD-US 2 48060189 48060192 deletion of <=200bp TGTC - frameshift_variant DK109 COAD-US 2 48060189 48060192 deletion of <=200bp TGTC - frameshift_variant DK234 COAD-US 2 48060189 48060192 deletion of <=200bp TGTC - frameshift_variant DK318 COAD-US 2 48060189 48060192 deletion of <=200bp TGTC - upstream_gene_variant COAD-US 2 48063069 48063069 single base substitution T C downstream_gene_variant COAD-US 2 48063069 48063069 single base substitution T C exon_variant COAD-US 2 48063069 48063069 single base substitution T C missense_variant Q11R 32A>G COAD-US 2 48063069 48063069 single base substitution T C missense_variant Q136R 407A>G COAD-US 2 48063069 48063069 single base substitution T C missense_variant Q220R 659A>G COAD-US 2 48063069 48063069 single base substitution T C upstream_gene_variant COAD-US 2 48063108 48063108 single base substitution G A downstream_gene_variant COAD-US 2 48063108 48063108 single base substitution G A exon_variant COAD-US 2 48063108 48063108 single base substitution G A missense_variant T123I 368C>T COAD-US 2 48063108 48063108 single base substitution G A missense_variant T207I 620C>T COAD-US 2 48063108 48063108 single base substitution G A upstream_gene_variant COAD-US 2 48066893 48066893 single base substitution G A 5_prime_UTR_variant COAD-US 2 48066893 48066893 single base substitution G A exon_variant COAD-US 2 48066893 48066893 single base substitution G A missense_variant A83V 248C>T COAD-US 2 48066893 48066893 single base substitution G A upstream_gene_variant COCA-CN 2 48016595 48016595 single base substitution A C intron_variant COCA-CN 2 48018316 48018316 single base substitution A T intron_variant COCA-CN 2 48026015 48026015 single base substitution G A intron_variant COCA-CN 2 48027713 48027713 single base substitution G A intron_variant COCA-CN 2 48028161 48028161 single base substitution G T intron_variant COCA-CN 2 48028193 48028193 single base substitution G A intron_variant COCA-CN 2 48028225 48028225 single base substitution C T intron_variant COCA-CN 2 48030685 48030685 single base substitution C T downstream_gene_variant COCA-CN 2 48030685 48030685 single base substitution C T intron_variant COCA-CN 2 48033570 48033570 single base substitution C A downstream_gene_variant COCA-CN 2 48033570 48033570 single base substitution C A intron_variant COCA-CN 2 48036827 48036827 single base substitution G A downstream_gene_variant COCA-CN 2 48036827 48036827 single base substitution G A exon_variant COCA-CN 2 48036827 48036827 single base substitution G A synonymous_variant H210H 630C>T COCA-CN 2 48036827 48036827 single base substitution G A synonymous_variant H702H 2106C>T COCA-CN 2 48036827 48036827 single base substitution G A synonymous_variant H786H 2358C>T COCA-CN 2 48036827 48036827 single base substitution G A upstream_gene_variant COCA-CN 2 48046013 48046013 single base substitution A T intron_variant COCA-CN 2 48046013 48046013 single base substitution A T upstream_gene_variant COCA-CN 2 48046014 48046014 single base substitution A T intron_variant COCA-CN 2 48046014 48046014 single base substitution A T upstream_gene_variant COCA-CN 2 48046015 48046015 single base substitution A T intron_variant COCA-CN 2 48046015 48046015 single base substitution A T upstream_gene_variant COCA-CN 2 48046052 48046052 single base substitution C A intron_variant COCA-CN 2 48046052 48046052 single base substitution C A upstream_gene_variant COCA-CN 2 48060088 48060088 single base substitution C A downstream_gene_variant COCA-CN 2 48060088 48060088 single base substitution C A intron_variant COCA-CN 2 48060088 48060088 single base substitution C A upstream_gene_variant COCA-CN 2 48066066 48066066 single base substitution T C exon_variant COCA-CN 2 48066066 48066066 single base substitution T C synonymous_variant E173E 519A>G COCA-CN 2 48066066 48066066 single base substitution T C synonymous_variant E55E 165A>G COCA-CN 2 48066066 48066066 single base substitution T C synonymous_variant E89E 267A>G COCA-CN 2 48066066 48066066 single base substitution T C upstream_gene_variant EOPC-DE 2 48093195 48093195 single base substitution A T intron_variant EOPC-DE 2 48105196 48105196 single base substitution C T intron_variant ESAD-UK 2 48017927 48017927 single base substitution C G intron_variant ESAD-UK 2 48018340 48018340 insertion of <=200bp - T intron_variant ESAD-UK 2 48018996 48018996 single base substitution T A intron_variant ESAD-UK 2 48019741 48019741 single base substitution C G intron_variant ESAD-UK 2 48020426 48020426 insertion of <=200bp - CTC intron_variant ESAD-UK 2 48020877 48020877 single base substitution T G intron_variant ESAD-UK 2 48020905 48020905 single base substitution T C intron_variant ESAD-UK 2 48027823 48027823 single base substitution C T intron_variant ESAD-UK 2 48028343 48028343 single base substitution T C intron_variant ESAD-UK 2 48028378 48028378 single base substitution A T intron_variant ESAD-UK 2 48028380 48028381 deletion of <=200bp GG - intron_variant ESAD-UK 2 48029477 48029477 single base substitution T A downstream_gene_variant ESAD-UK 2 48029477 48029477 single base substitution T A intron_variant ESAD-UK 2 48030091 48030091 single base substitution C T downstream_gene_variant ESAD-UK 2 48030091 48030091 single base substitution C T intron_variant ESAD-UK 2 48032259 48032259 single base substitution T C downstream_gene_variant ESAD-UK 2 48032259 48032259 single base substitution T C intron_variant ESAD-UK 2 48032486 48032486 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 48032486 48032486 insertion of <=200bp - T intron_variant ESAD-UK 2 48035235 48035235 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 48035235 48035235 single base substitution A C downstream_gene_variant ESAD-UK 2 48035235 48035235 single base substitution A C exon_variant ESAD-UK 2 48035235 48035235 single base substitution A C intron_variant ESAD-UK 2 48039486 48039486 single base substitution C T downstream_gene_variant ESAD-UK 2 48039486 48039486 single base substitution C T intron_variant ESAD-UK 2 48039486 48039486 single base substitution C T upstream_gene_variant ESAD-UK 2 48040749 48040749 single base substitution T C downstream_gene_variant ESAD-UK 2 48040749 48040749 single base substitution T C intron_variant ESAD-UK 2 48040749 48040749 single base substitution T C upstream_gene_variant ESAD-UK 2 48041559 48041559 single base substitution C A downstream_gene_variant ESAD-UK 2 48041559 48041559 single base substitution C A intron_variant ESAD-UK 2 48041559 48041559 single base substitution C A upstream_gene_variant ESAD-UK 2 48043548 48043548 single base substitution G A downstream_gene_variant ESAD-UK 2 48043548 48043548 single base substitution G A intron_variant ESAD-UK 2 48043548 48043548 single base substitution G A upstream_gene_variant ESAD-UK 2 48045970 48045970 single base substitution C G exon_variant ESAD-UK 2 48045970 48045970 single base substitution C G missense_variant V443L 1327G>C ESAD-UK 2 48045970 48045970 single base substitution C G missense_variant V568L 1702G>C ESAD-UK 2 48045970 48045970 single base substitution C G missense_variant V652L 1954G>C ESAD-UK 2 48045970 48045970 single base substitution C G missense_variant V76L 226G>C ESAD-UK 2 48045970 48045970 single base substitution C G upstream_gene_variant ESAD-UK 2 48050893 48050893 insertion of <=200bp - A intron_variant ESAD-UK 2 48052563 48052563 single base substitution A T intron_variant ESAD-UK 2 48052597 48052597 single base substitution T A intron_variant ESAD-UK 2 48053474 48053474 single base substitution G A intron_variant ESAD-UK 2 48054274 48054274 single base substitution A G intron_variant ESAD-UK 2 48057779 48057779 single base substitution T C intron_variant ESAD-UK 2 48057970 48057970 single base substitution G A intron_variant ESAD-UK 2 48060577 48060577 single base substitution G A downstream_gene_variant ESAD-UK 2 48060577 48060577 single base substitution G A intron_variant ESAD-UK 2 48060577 48060577 single base substitution G A upstream_gene_variant ESAD-UK 2 48060938 48060938 single base substitution G A downstream_gene_variant ESAD-UK 2 48060938 48060938 single base substitution G A intron_variant ESAD-UK 2 48060938 48060938 single base substitution G A upstream_gene_variant ESAD-UK 2 48061729 48061729 single base substitution A C downstream_gene_variant ESAD-UK 2 48061729 48061729 single base substitution A C exon_variant ESAD-UK 2 48061729 48061729 single base substitution A C missense_variant M224R 671T>G ESAD-UK 2 48061729 48061729 single base substitution A C missense_variant M308R 923T>G ESAD-UK 2 48061729 48061729 single base substitution A C missense_variant M99R 296T>G ESAD-UK 2 48061729 48061729 single base substitution A C upstream_gene_variant ESAD-UK 2 48065364 48065364 single base substitution C A intron_variant ESAD-UK 2 48065364 48065364 single base substitution C A upstream_gene_variant ESAD-UK 2 48070581 48070581 single base substitution T G intron_variant ESAD-UK 2 48072018 48072018 single base substitution C T intron_variant ESAD-UK 2 48074846 48074846 single base substitution C G intron_variant ESAD-UK 2 48074875 48074875 single base substitution A T intron_variant ESAD-UK 2 48075288 48075288 single base substitution A C intron_variant ESAD-UK 2 48076963 48076963 single base substitution C A intron_variant ESAD-UK 2 48079669 48079669 single base substitution G T intron_variant ESAD-UK 2 48080524 48080524 single base substitution T A intron_variant ESAD-UK 2 48081936 48081936 single base substitution G A intron_variant ESAD-UK 2 48082001 48082001 single base substitution T G intron_variant ESAD-UK 2 48082002 48082002 single base substitution G T intron_variant ESAD-UK 2 48082699 48082699 single base substitution G C intron_variant ESAD-UK 2 48082870 48082870 single base substitution C G intron_variant ESAD-UK 2 48083049 48083049 single base substitution G C intron_variant ESAD-UK 2 48085076 48085076 insertion of <=200bp - AT intron_variant ESAD-UK 2 48086391 48086391 single base substitution T C intron_variant ESAD-UK 2 48091452 48091452 single base substitution C T intron_variant ESAD-UK 2 48092099 48092099 single base substitution T C intron_variant ESAD-UK 2 48097174 48097174 single base substitution G A intron_variant ESAD-UK 2 48097403 48097403 single base substitution A C intron_variant ESAD-UK 2 48098910 48098910 single base substitution G C intron_variant ESAD-UK 2 48100086 48100086 single base substitution T C intron_variant ESAD-UK 2 48109952 48109952 single base substitution G A intron_variant ESAD-UK 2 48110651 48110651 single base substitution T C intron_variant ESAD-UK 2 48111420 48111420 single base substitution C A intron_variant ESAD-UK 2 48113513 48113513 single base substitution C T intron_variant ESAD-UK 2 48113572 48113572 single base substitution G A intron_variant ESAD-UK 2 48116043 48116043 single base substitution G T intron_variant ESAD-UK 2 48116043 48116043 single base substitution G T upstream_gene_variant ESAD-UK 2 48121948 48121948 single base substitution C A intron_variant ESAD-UK 2 48122004 48122004 single base substitution G T intron_variant ESAD-UK 2 48124097 48124097 single base substitution G A intron_variant ESAD-UK 2 48125480 48125480 single base substitution A C intron_variant ESAD-UK 2 48128163 48128163 single base substitution T C intron_variant ESAD-UK 2 48129352 48129352 single base substitution C T intron_variant ESAD-UK 2 48134714 48134714 single base substitution G A upstream_gene_variant ESAD-UK 2 48136647 48136647 single base substitution G A upstream_gene_variant ESAD-UK 2 48137871 48137871 single base substitution C T upstream_gene_variant ESCA-CN 2 48033909 48033909 single base substitution A T downstream_gene_variant ESCA-CN 2 48033909 48033909 single base substitution A T exon_variant ESCA-CN 2 48033909 48033909 single base substitution A T intron_variant ESCA-CN 2 48040564 48040564 single base substitution A T downstream_gene_variant ESCA-CN 2 48040564 48040564 single base substitution A T intron_variant ESCA-CN 2 48040564 48040564 single base substitution A T upstream_gene_variant ESCA-CN 2 48046013 48046013 deletion of <=200bp A - intron_variant ESCA-CN 2 48046013 48046013 deletion of <=200bp A - upstream_gene_variant ESCA-CN 2 48132949 48132949 single base substitution T G upstream_gene_variant GBM-US 2 48023188 48023190 deletion of <=200bp GAA - intron_variant GBM-US 2 48026087 48026087 single base substitution C T intron_variant GBM-US 2 48026476 48026476 single base substitution A G intron_variant KIRC-US 2 48026389 48026389 single base substitution C A intron_variant KIRC-US 2 48027971 48027971 single base substitution G T intron_variant KIRC-US 2 48040362 48040364 deletion of <=200bp AAC - inframe_deletion V537 KIRC-US 2 48040362 48040364 deletion of <=200bp AAC - intron_variant KIRC-US 2 48040362 48040364 deletion of <=200bp AAC - upstream_gene_variant KIRC-US 2 48050392 48050392 single base substitution A T 5_prime_UTR_variant KIRC-US 2 48050392 48050392 single base substitution A T exon_variant KIRC-US 2 48050392 48050392 single base substitution A T synonymous_variant T293T 879T>A KIRC-US 2 48050392 48050392 single base substitution A T synonymous_variant T418T 1254T>A KIRC-US 2 48050392 48050392 single base substitution A T synonymous_variant T502T 1506T>A KIRC-US 2 48066061 48066061 single base substitution T C exon_variant KIRC-US 2 48066061 48066061 single base substitution T C missense_variant D175G 524A>G KIRC-US 2 48066061 48066061 single base substitution T C missense_variant D57G 170A>G KIRC-US 2 48066061 48066061 single base substitution T C missense_variant D91G 272A>G KIRC-US 2 48066061 48066061 single base substitution T C upstream_gene_variant KIRP-US 2 48025884 48025884 insertion of <=200bp - G intron_variant KIRP-US 2 48027125 48027125 single base substitution C G intron_variant KIRP-US 2 48040950 48040950 single base substitution C T downstream_gene_variant KIRP-US 2 48040950 48040950 single base substitution C T exon_variant KIRP-US 2 48040950 48040950 single base substitution C T missense_variant G112E 335G>A KIRP-US 2 48040950 48040950 single base substitution C T missense_variant G479E 1436G>A KIRP-US 2 48040950 48040950 single base substitution C T missense_variant G604E 1811G>A KIRP-US 2 48040950 48040950 single base substitution C T missense_variant G688E 2063G>A KIRP-US 2 48040950 48040950 single base substitution C T upstream_gene_variant KIRP-US 2 48049436 48049436 single base substitution A C 5_prime_UTR_variant KIRP-US 2 48049436 48049436 single base substitution A C exon_variant KIRP-US 2 48049436 48049436 single base substitution A C missense_variant N332K 996T>G KIRP-US 2 48049436 48049436 single base substitution A C missense_variant N457K 1371T>G KIRP-US 2 48049436 48049436 single base substitution A C missense_variant N541K 1623T>G KIRP-US 2 48132850 48132850 single base substitution C G missense_variant V4L 10G>C KIRP-US 2 48132850 48132850 single base substitution C G upstream_gene_variant LAML-CN 2 48030648 48030648 single base substitution T C downstream_gene_variant LAML-CN 2 48030648 48030648 single base substitution T C intron_variant LAML-KR 2 48025764 48025764 single base substitution C T intron_variant LAML-KR 2 48032964 48032964 single base substitution C T downstream_gene_variant LAML-KR 2 48032964 48032964 single base substitution C T intron_variant LAML-KR 2 48040331 48040331 single base substitution G A intron_variant LAML-KR 2 48040331 48040331 single base substitution G A missense_variant H548Y 1642C>T LAML-KR 2 48040331 48040331 single base substitution G A upstream_gene_variant LAML-KR 2 48048680 48048680 single base substitution T G intron_variant LGG-US 2 48035296 48035297 deletion of <=200bp AG - downstream_gene_variant LGG-US 2 48035296 48035297 deletion of <=200bp AG - exon_variant LGG-US 2 48035296 48035297 deletion of <=200bp AG - frameshift_variant S339 LGG-US 2 48035296 48035297 deletion of <=200bp AG - frameshift_variant S831 LGG-US 2 48035296 48035297 deletion of <=200bp AG - frameshift_variant S915 LGG-US 2 48035296 48035297 deletion of <=200bp AG - intron_variant LICA-CN 2 48025993 48025993 single base substitution A G intron_variant LICA-CN 2 48040981 48040981 single base substitution G A downstream_gene_variant LICA-CN 2 48040981 48040981 single base substitution G A exon_variant LICA-CN 2 48040981 48040981 single base substitution G A missense_variant R102C 304C>T LICA-CN 2 48040981 48040981 single base substitution G A missense_variant R469C 1405C>T LICA-CN 2 48040981 48040981 single base substitution G A missense_variant R594C 1780C>T LICA-CN 2 48040981 48040981 single base substitution G A missense_variant R678C 2032C>T LICA-CN 2 48040981 48040981 single base substitution G A upstream_gene_variant LICA-FR 2 48012065 48012065 single base substitution G T downstream_gene_variant LICA-FR 2 48016452 48016452 single base substitution A C downstream_gene_variant LICA-FR 2 48018815 48018815 deletion of <=200bp T - intron_variant LICA-FR 2 48026219 48026219 single base substitution A T intron_variant LICA-FR 2 48026357 48026357 single base substitution A C intron_variant LICA-FR 2 48027710 48027710 single base substitution A C intron_variant LICA-FR 2 48028190 48028190 single base substitution A G intron_variant LICA-FR 2 48036934 48036934 single base substitution T G downstream_gene_variant LICA-FR 2 48036934 48036934 single base substitution T G intron_variant LICA-FR 2 48036934 48036934 single base substitution T G upstream_gene_variant LICA-FR 2 48037516 48037516 single base substitution G A downstream_gene_variant LICA-FR 2 48037516 48037516 single base substitution G A exon_variant LICA-FR 2 48037516 48037516 single base substitution G A synonymous_variant L183L 549C>T LICA-FR 2 48037516 48037516 single base substitution G A synonymous_variant L675L 2025C>T LICA-FR 2 48037516 48037516 single base substitution G A synonymous_variant L759L 2277C>T LICA-FR 2 48037516 48037516 single base substitution G A upstream_gene_variant LICA-FR 2 48041513 48041513 insertion of <=200bp - T downstream_gene_variant LICA-FR 2 48041513 48041513 insertion of <=200bp - T intron_variant LICA-FR 2 48041513 48041513 insertion of <=200bp - T upstream_gene_variant LICA-FR 2 48056438 48056438 single base substitution G A intron_variant LICA-FR 2 48058611 48058611 single base substitution C T downstream_gene_variant LICA-FR 2 48058611 48058611 single base substitution C T intron_variant LICA-FR 2 48059938 48059938 single base substitution C A downstream_gene_variant LICA-FR 2 48059938 48059938 single base substitution C A exon_variant LICA-FR 2 48059938 48059938 single base substitution C A missense_variant D166Y 496G>T LICA-FR 2 48059938 48059938 single base substitution C A missense_variant D291Y 871G>T LICA-FR 2 48059938 48059938 single base substitution C A missense_variant D375Y 1123G>T LICA-FR 2 48059938 48059938 single base substitution C A upstream_gene_variant LICA-FR 2 48098960 48098960 single base substitution T C intron_variant LICA-FR 2 48107110 48107110 single base substitution T C intron_variant LICA-FR 2 48108846 48108846 single base substitution T C intron_variant LICA-FR 2 48129689 48129689 single base substitution T C intron_variant LICA-FR 2 48133910 48133910 single base substitution A G upstream_gene_variant LIHC-US 2 48027047 48027047 single base substitution A G intron_variant LIHC-US 2 48035495 48035495 single base substitution T C downstream_gene_variant LIHC-US 2 48035495 48035495 single base substitution T C exon_variant LIHC-US 2 48035495 48035495 single base substitution T C missense_variant H300R 899A>G LIHC-US 2 48035495 48035495 single base substitution T C missense_variant H30R 89A>G LIHC-US 2 48035495 48035495 single base substitution T C missense_variant H792R 2375A>G LIHC-US 2 48035495 48035495 single base substitution T C missense_variant H876R 2627A>G LINC-JP 2 48018314 48018314 single base substitution T A intron_variant LINC-JP 2 48020860 48020860 single base substitution A C intron_variant LINC-JP 2 48023775 48023775 single base substitution A G intron_variant LINC-JP 2 48025998 48025998 single base substitution C G intron_variant LINC-JP 2 48026718 48026718 single base substitution T C intron_variant LINC-JP 2 48026751 48026751 single base substitution A G intron_variant LINC-JP 2 48027558 48027558 single base substitution A G intron_variant LINC-JP 2 48028058 48028058 single base substitution T C intron_variant LINC-JP 2 48028256 48028256 single base substitution A C intron_variant LINC-JP 2 48028397 48028397 single base substitution T G intron_variant LINC-JP 2 48030811 48030811 single base substitution C T downstream_gene_variant LINC-JP 2 48030811 48030811 single base substitution C T intron_variant LINC-JP 2 48030975 48030975 single base substitution T A downstream_gene_variant LINC-JP 2 48030975 48030975 single base substitution T A intron_variant LINC-JP 2 48033426 48033432 deletion of <=200bp TTATTTT - downstream_gene_variant LINC-JP 2 48033426 48033432 deletion of <=200bp TTATTTT - intron_variant LINC-JP 2 48033792 48033795 deletion of <=200bp TAAC - downstream_gene_variant LINC-JP 2 48033792 48033795 deletion of <=200bp TAAC - intron_variant LINC-JP 2 48033801 48033801 single base substitution A C downstream_gene_variant LINC-JP 2 48033801 48033801 single base substitution A C intron_variant LINC-JP 2 48034482 48034482 single base substitution T G 3_prime_UTR_variant LINC-JP 2 48034482 48034482 single base substitution T G downstream_gene_variant LINC-JP 2 48034482 48034482 single base substitution T G exon_variant LINC-JP 2 48034482 48034482 single base substitution T G intron_variant LINC-JP 2 48036440 48036440 single base substitution G C downstream_gene_variant LINC-JP 2 48036440 48036440 single base substitution G C intron_variant LINC-JP 2 48036440 48036440 single base substitution G C upstream_gene_variant LINC-JP 2 48036450 48036450 single base substitution T G downstream_gene_variant LINC-JP 2 48036450 48036450 single base substitution T G intron_variant LINC-JP 2 48036450 48036450 single base substitution T G upstream_gene_variant LINC-JP 2 48036527 48036527 single base substitution A C downstream_gene_variant LINC-JP 2 48036527 48036527 single base substitution A C intron_variant LINC-JP 2 48036527 48036527 single base substitution A C upstream_gene_variant LINC-JP 2 48036877 48036877 single base substitution A G downstream_gene_variant LINC-JP 2 48036877 48036877 single base substitution A G intron_variant LINC-JP 2 48036877 48036877 single base substitution A G upstream_gene_variant LINC-JP 2 48036880 48036880 single base substitution A C downstream_gene_variant LINC-JP 2 48036880 48036880 single base substitution A C intron_variant LINC-JP 2 48036880 48036880 single base substitution A C upstream_gene_variant LINC-JP 2 48040582 48040582 single base substitution T G downstream_gene_variant LINC-JP 2 48040582 48040582 single base substitution T G intron_variant LINC-JP 2 48040582 48040582 single base substitution T G upstream_gene_variant LINC-JP 2 48045388 48045388 single base substitution T C downstream_gene_variant LINC-JP 2 48045388 48045388 single base substitution T C intron_variant LINC-JP 2 48045388 48045388 single base substitution T C upstream_gene_variant LINC-JP 2 48045865 48045865 single base substitution C T exon_variant LINC-JP 2 48045865 48045865 single base substitution C T intron_variant LINC-JP 2 48045865 48045865 single base substitution C T upstream_gene_variant LINC-JP 2 48045941 48045941 single base substitution A G exon_variant LINC-JP 2 48045941 48045941 single base substitution A G synonymous_variant H452H 1356T>C LINC-JP 2 48045941 48045941 single base substitution A G synonymous_variant H577H 1731T>C LINC-JP 2 48045941 48045941 single base substitution A G synonymous_variant H661H 1983T>C LINC-JP 2 48045941 48045941 single base substitution A G synonymous_variant H85H 255T>C LINC-JP 2 48045941 48045941 single base substitution A G upstream_gene_variant LINC-JP 2 48046266 48046266 single base substitution C T intron_variant LINC-JP 2 48046266 48046266 single base substitution C T upstream_gene_variant LINC-JP 2 48049155 48049155 single base substitution T A intron_variant LINC-JP 2 48050508 48050508 single base substitution T C intron_variant LINC-JP 2 48059815 48059815 single base substitution C T downstream_gene_variant LINC-JP 2 48059815 48059815 single base substitution C T missense_variant G177S 529G>A LINC-JP 2 48059815 48059815 single base substitution C T missense_variant G302S 904G>A LINC-JP 2 48059815 48059815 single base substitution C T missense_variant G386S 1156G>A LINC-JP 2 48059815 48059815 single base substitution C T splice_region_variant LINC-JP 2 48059815 48059815 single base substitution C T upstream_gene_variant LINC-JP 2 48060000 48060000 single base substitution G T downstream_gene_variant LINC-JP 2 48060000 48060000 single base substitution G T exon_variant LINC-JP 2 48060000 48060000 single base substitution G T missense_variant S145Y 434C>A LINC-JP 2 48060000 48060000 single base substitution G T missense_variant S270Y 809C>A LINC-JP 2 48060000 48060000 single base substitution G T missense_variant S354Y 1061C>A LINC-JP 2 48060000 48060000 single base substitution G T upstream_gene_variant LINC-JP 2 48060001 48060001 single base substitution A C downstream_gene_variant LINC-JP 2 48060001 48060001 single base substitution A C exon_variant LINC-JP 2 48060001 48060001 single base substitution A C missense_variant S145A 433T>G LINC-JP 2 48060001 48060001 single base substitution A C missense_variant S270A 808T>G LINC-JP 2 48060001 48060001 single base substitution A C missense_variant S354A 1060T>G LINC-JP 2 48060001 48060001 single base substitution A C upstream_gene_variant LINC-JP 2 48066699 48066699 single base substitution T G intron_variant LINC-JP 2 48066699 48066699 single base substitution T G upstream_gene_variant LINC-JP 2 48069082 48069082 single base substitution T C intron_variant LINC-JP 2 48077177 48077177 single base substitution A C intron_variant LINC-JP 2 48079529 48079529 single base substitution T C intron_variant LINC-JP 2 48081829 48081829 single base substitution C T intron_variant LINC-JP 2 48089613 48089613 single base substitution A C intron_variant LINC-JP 2 48095974 48095974 single base substitution T G intron_variant LINC-JP 2 48099464 48099464 single base substitution T C intron_variant LINC-JP 2 48112299 48112299 single base substitution T C intron_variant LINC-JP 2 48127784 48127784 single base substitution T C intron_variant LINC-JP 2 48128264 48128264 single base substitution G A intron_variant LINC-JP 2 48135180 48135180 single base substitution A G upstream_gene_variant LIRI-JP 2 48011745 48011745 single base substitution G T downstream_gene_variant LIRI-JP 2 48011746 48011746 single base substitution A T downstream_gene_variant LIRI-JP 2 48011870 48011870 single base substitution G C downstream_gene_variant LIRI-JP 2 48015820 48015820 single base substitution T C downstream_gene_variant LIRI-JP 2 48016280 48016280 single base substitution G T downstream_gene_variant LIRI-JP 2 48017181 48017181 single base substitution A G intron_variant LIRI-JP 2 48017513 48017513 single base substitution T C intron_variant LIRI-JP 2 48024353 48024373 deletion of <=200bp ATCCTCTGATCTATCATATTA - intron_variant LIRI-JP 2 48024627 48024627 single base substitution A T intron_variant LIRI-JP 2 48025605 48025605 single base substitution T C intron_variant LIRI-JP 2 48029488 48029488 single base substitution T C downstream_gene_variant LIRI-JP 2 48029488 48029488 single base substitution T C intron_variant LIRI-JP 2 48030470 48030479 deletion of <=200bp AATGTGTTAT - downstream_gene_variant LIRI-JP 2 48030470 48030479 deletion of <=200bp AATGTGTTAT - intron_variant LIRI-JP 2 48031379 48031379 single base substitution A T downstream_gene_variant LIRI-JP 2 48031379 48031379 single base substitution A T intron_variant LIRI-JP 2 48032710 48032710 single base substitution T A downstream_gene_variant LIRI-JP 2 48032710 48032710 single base substitution T A intron_variant LIRI-JP 2 48033193 48033193 single base substitution T C downstream_gene_variant LIRI-JP 2 48033193 48033193 single base substitution T C intron_variant LIRI-JP 2 48033376 48033376 single base substitution T C downstream_gene_variant LIRI-JP 2 48033376 48033376 single base substitution T C intron_variant LIRI-JP 2 48033665 48033665 single base substitution A G downstream_gene_variant LIRI-JP 2 48033665 48033665 single base substitution A G intron_variant LIRI-JP 2 48033999 48033999 single base substitution G C downstream_gene_variant LIRI-JP 2 48033999 48033999 single base substitution G C exon_variant LIRI-JP 2 48033999 48033999 single base substitution G C intron_variant LIRI-JP 2 48034170 48034170 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 48034170 48034170 single base substitution T A downstream_gene_variant LIRI-JP 2 48034170 48034170 single base substitution T A exon_variant LIRI-JP 2 48034170 48034170 single base substitution T A intron_variant LIRI-JP 2 48034462 48034462 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 48034462 48034462 single base substitution T G downstream_gene_variant LIRI-JP 2 48034462 48034462 single base substitution T G exon_variant LIRI-JP 2 48034462 48034462 single base substitution T G intron_variant LIRI-JP 2 48034976 48034976 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 48034976 48034976 single base substitution T A downstream_gene_variant LIRI-JP 2 48034976 48034976 single base substitution T A exon_variant LIRI-JP 2 48034976 48034976 single base substitution T A intron_variant LIRI-JP 2 48035280 48035280 single base substitution A C downstream_gene_variant LIRI-JP 2 48035280 48035280 single base substitution A C exon_variant LIRI-JP 2 48035280 48035280 single base substitution A C intron_variant LIRI-JP 2 48035280 48035280 single base substitution A C missense_variant S345A 1033T>G LIRI-JP 2 48035280 48035280 single base substitution A C missense_variant S837A 2509T>G LIRI-JP 2 48035280 48035280 single base substitution A C missense_variant S921A 2761T>G LIRI-JP 2 48035300 48035300 single base substitution T C downstream_gene_variant LIRI-JP 2 48035300 48035300 single base substitution T C exon_variant LIRI-JP 2 48035300 48035300 single base substitution T C intron_variant LIRI-JP 2 48035300 48035300 single base substitution T C missense_variant D338G 1013A>G LIRI-JP 2 48035300 48035300 single base substitution T C missense_variant D830G 2489A>G LIRI-JP 2 48035300 48035300 single base substitution T C missense_variant D914G 2741A>G LIRI-JP 2 48035317 48035317 single base substitution A G downstream_gene_variant LIRI-JP 2 48035317 48035317 single base substitution A G exon_variant LIRI-JP 2 48035317 48035317 single base substitution A G intron_variant LIRI-JP 2 48035317 48035317 single base substitution A G synonymous_variant D332D 996T>C LIRI-JP 2 48035317 48035317 single base substitution A G synonymous_variant D824D 2472T>C LIRI-JP 2 48035317 48035317 single base substitution A G synonymous_variant D908D 2724T>C LIRI-JP 2 48035989 48035989 single base substitution T A downstream_gene_variant LIRI-JP 2 48035989 48035989 single base substitution T A intron_variant LIRI-JP 2 48036586 48036586 single base substitution A C downstream_gene_variant LIRI-JP 2 48036586 48036586 single base substitution A C intron_variant LIRI-JP 2 48036586 48036586 single base substitution A C upstream_gene_variant LIRI-JP 2 48036753 48036753 single base substitution T G downstream_gene_variant LIRI-JP 2 48036753 48036753 single base substitution T G exon_variant LIRI-JP 2 48036753 48036753 single base substitution T G missense_variant N235T 704A>C LIRI-JP 2 48036753 48036753 single base substitution T G missense_variant N727T 2180A>C LIRI-JP 2 48036753 48036753 single base substitution T G missense_variant N811T 2432A>C LIRI-JP 2 48036753 48036753 single base substitution T G upstream_gene_variant LIRI-JP 2 48037169 48037169 single base substitution A C downstream_gene_variant LIRI-JP 2 48037169 48037169 single base substitution A C intron_variant LIRI-JP 2 48037169 48037169 single base substitution A C upstream_gene_variant LIRI-JP 2 48038554 48038554 single base substitution A G downstream_gene_variant LIRI-JP 2 48038554 48038554 single base substitution A G exon_variant LIRI-JP 2 48038554 48038554 single base substitution A G intron_variant LIRI-JP 2 48038554 48038554 single base substitution A G upstream_gene_variant LIRI-JP 2 48038696 48038696 single base substitution A G downstream_gene_variant LIRI-JP 2 48038696 48038696 single base substitution A G exon_variant LIRI-JP 2 48038696 48038696 single base substitution A G intron_variant LIRI-JP 2 48038696 48038696 single base substitution A G upstream_gene_variant LIRI-JP 2 48039644 48039644 single base substitution G A downstream_gene_variant LIRI-JP 2 48039644 48039644 single base substitution G A intron_variant LIRI-JP 2 48039644 48039644 single base substitution G A upstream_gene_variant LIRI-JP 2 48040007 48040007 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 48040007 48040007 single base substitution T G intron_variant LIRI-JP 2 48040007 48040007 single base substitution T G upstream_gene_variant LIRI-JP 2 48040254 48040254 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 48040254 48040254 single base substitution A C intron_variant LIRI-JP 2 48040254 48040254 single base substitution A C upstream_gene_variant LIRI-JP 2 48040290 48040290 single base substitution G C intron_variant LIRI-JP 2 48040290 48040290 single base substitution G C missense_variant N561K 1683C>G LIRI-JP 2 48040290 48040290 single base substitution G C upstream_gene_variant LIRI-JP 2 48041859 48041859 single base substitution T C downstream_gene_variant LIRI-JP 2 48041859 48041859 single base substitution T C intron_variant LIRI-JP 2 48041859 48041859 single base substitution T C upstream_gene_variant LIRI-JP 2 48042005 48042005 single base substitution A C downstream_gene_variant LIRI-JP 2 48042005 48042005 single base substitution A C intron_variant LIRI-JP 2 48042005 48042005 single base substitution A C upstream_gene_variant LIRI-JP 2 48043130 48043130 single base substitution C A downstream_gene_variant LIRI-JP 2 48043130 48043130 single base substitution C A intron_variant LIRI-JP 2 48043130 48043130 single base substitution C A upstream_gene_variant LIRI-JP 2 48043907 48043907 single base substitution T G downstream_gene_variant LIRI-JP 2 48043907 48043907 single base substitution T G intron_variant LIRI-JP 2 48043907 48043907 single base substitution T G upstream_gene_variant LIRI-JP 2 48048214 48048214 insertion of <=200bp - ATTC intron_variant LIRI-JP 2 48054506 48054506 single base substitution C T intron_variant LIRI-JP 2 48055018 48055018 single base substitution T C intron_variant LIRI-JP 2 48056643 48056643 single base substitution T A intron_variant LIRI-JP 2 48056791 48056791 single base substitution T C intron_variant LIRI-JP 2 48057621 48057621 single base substitution G A intron_variant LIRI-JP 2 48057763 48057763 single base substitution C G intron_variant LIRI-JP 2 48060744 48060744 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 48060744 48060744 deletion of <=200bp T - intron_variant LIRI-JP 2 48060744 48060744 deletion of <=200bp T - upstream_gene_variant LIRI-JP 2 48060797 48060797 single base substitution T C downstream_gene_variant LIRI-JP 2 48060797 48060797 single base substitution T C intron_variant LIRI-JP 2 48060797 48060797 single base substitution T C upstream_gene_variant LIRI-JP 2 48061204 48061204 single base substitution T C downstream_gene_variant LIRI-JP 2 48061204 48061204 single base substitution T C intron_variant LIRI-JP 2 48061204 48061204 single base substitution T C upstream_gene_variant LIRI-JP 2 48065282 48065282 single base substitution G A intron_variant LIRI-JP 2 48065282 48065282 single base substitution G A upstream_gene_variant LIRI-JP 2 48065457 48065457 single base substitution T C intron_variant LIRI-JP 2 48065457 48065457 single base substitution T C upstream_gene_variant LIRI-JP 2 48066375 48066375 single base substitution A C intron_variant LIRI-JP 2 48066375 48066375 single base substitution A C upstream_gene_variant LIRI-JP 2 48067472 48067472 single base substitution T C intron_variant LIRI-JP 2 48067472 48067472 single base substitution T C upstream_gene_variant LIRI-JP 2 48067561 48067561 single base substitution T A intron_variant LIRI-JP 2 48067561 48067561 single base substitution T A upstream_gene_variant LIRI-JP 2 48067800 48067800 single base substitution C T intron_variant LIRI-JP 2 48067800 48067800 single base substitution C T upstream_gene_variant LIRI-JP 2 48068166 48068166 single base substitution T C intron_variant LIRI-JP 2 48068377 48068377 single base substitution C T intron_variant LIRI-JP 2 48068511 48068511 single base substitution T C intron_variant LIRI-JP 2 48068670 48068670 single base substitution A G intron_variant LIRI-JP 2 48068917 48068917 single base substitution C T intron_variant LIRI-JP 2 48069621 48069621 single base substitution C T intron_variant LIRI-JP 2 48070190 48070190 single base substitution T C intron_variant LIRI-JP 2 48070846 48070846 single base substitution T C intron_variant LIRI-JP 2 48070945 48070945 single base substitution T C intron_variant LIRI-JP 2 48071539 48071539 single base substitution T C intron_variant LIRI-JP 2 48071573 48071573 single base substitution T A intron_variant LIRI-JP 2 48073226 48073226 single base substitution A G intron_variant LIRI-JP 2 48073556 48073556 single base substitution A C intron_variant LIRI-JP 2 48074086 48074086 single base substitution G T intron_variant LIRI-JP 2 48075850 48075850 single base substitution C A intron_variant LIRI-JP 2 48076340 48076340 single base substitution T C intron_variant LIRI-JP 2 48079804 48079804 single base substitution T C intron_variant LIRI-JP 2 48080276 48080276 single base substitution T C intron_variant LIRI-JP 2 48080481 48080481 single base substitution T C intron_variant LIRI-JP 2 48086332 48086332 single base substitution C T intron_variant LIRI-JP 2 48087543 48087543 single base substitution C G intron_variant LIRI-JP 2 48087925 48087925 single base substitution A T intron_variant LIRI-JP 2 48088579 48088579 single base substitution T C intron_variant LIRI-JP 2 48088775 48088775 single base substitution C A intron_variant LIRI-JP 2 48088800 48088800 single base substitution A C intron_variant LIRI-JP 2 48090067 48090067 single base substitution G C intron_variant LIRI-JP 2 48091452 48091452 single base substitution C T intron_variant LIRI-JP 2 48094525 48094525 single base substitution C A intron_variant LIRI-JP 2 48095670 48095670 single base substitution T C intron_variant LIRI-JP 2 48099606 48099606 single base substitution G A intron_variant LIRI-JP 2 48102170 48102170 single base substitution T C intron_variant LIRI-JP 2 48102238 48102238 single base substitution C T intron_variant LIRI-JP 2 48102922 48102922 single base substitution T C intron_variant LIRI-JP 2 48104913 48104913 single base substitution T C intron_variant LIRI-JP 2 48106264 48106264 single base substitution T C intron_variant LIRI-JP 2 48109226 48109226 single base substitution T C intron_variant LIRI-JP 2 48110565 48110565 single base substitution T C intron_variant LIRI-JP 2 48111685 48111685 single base substitution T A intron_variant LIRI-JP 2 48112427 48112427 single base substitution T C intron_variant LIRI-JP 2 48118023 48118023 single base substitution C T intron_variant LIRI-JP 2 48118023 48118023 single base substitution C T upstream_gene_variant LIRI-JP 2 48119989 48119989 single base substitution T C intron_variant LIRI-JP 2 48119989 48119989 single base substitution T C upstream_gene_variant LIRI-JP 2 48123630 48123630 single base substitution C T intron_variant LIRI-JP 2 48129191 48129191 single base substitution C A intron_variant LIRI-JP 2 48129954 48129954 single base substitution T C intron_variant LIRI-JP 2 48130420 48130420 single base substitution C T intron_variant LIRI-JP 2 48131954 48131954 single base substitution G C intron_variant LUSC-KR 2 48012930 48012930 single base substitution G C downstream_gene_variant LUSC-KR 2 48015748 48015748 single base substitution A T downstream_gene_variant LUSC-KR 2 48015970 48015970 single base substitution C T downstream_gene_variant LUSC-KR 2 48016070 48016070 single base substitution T G downstream_gene_variant LUSC-KR 2 48019489 48019489 single base substitution G A intron_variant LUSC-KR 2 48019734 48019734 single base substitution C G intron_variant LUSC-KR 2 48020794 48020794 single base substitution A T intron_variant LUSC-KR 2 48025647 48025647 single base substitution C T intron_variant LUSC-KR 2 48025648 48025648 single base substitution A T intron_variant LUSC-KR 2 48028133 48028133 single base substitution A G intron_variant LUSC-KR 2 48032860 48032860 single base substitution C G downstream_gene_variant LUSC-KR 2 48032860 48032860 single base substitution C G intron_variant LUSC-KR 2 48036169 48036169 single base substitution A C downstream_gene_variant LUSC-KR 2 48036169 48036169 single base substitution A C intron_variant LUSC-KR 2 48037593 48037593 single base substitution G A downstream_gene_variant LUSC-KR 2 48037593 48037593 single base substitution G A exon_variant LUSC-KR 2 48037593 48037593 single base substitution G A intron_variant LUSC-KR 2 48037593 48037593 single base substitution G A upstream_gene_variant LUSC-KR 2 48038834 48038834 single base substitution C G downstream_gene_variant LUSC-KR 2 48038834 48038834 single base substitution C G intron_variant LUSC-KR 2 48038834 48038834 single base substitution C G upstream_gene_variant LUSC-KR 2 48041532 48041532 single base substitution A T downstream_gene_variant LUSC-KR 2 48041532 48041532 single base substitution A T intron_variant LUSC-KR 2 48041532 48041532 single base substitution A T upstream_gene_variant LUSC-KR 2 48043485 48043485 single base substitution A T downstream_gene_variant LUSC-KR 2 48043485 48043485 single base substitution A T intron_variant LUSC-KR 2 48043485 48043485 single base substitution A T upstream_gene_variant LUSC-KR 2 48043490 48043490 single base substitution T A downstream_gene_variant LUSC-KR 2 48043490 48043490 single base substitution T A intron_variant LUSC-KR 2 48043490 48043490 single base substitution T A upstream_gene_variant LUSC-KR 2 48043733 48043733 single base substitution C T downstream_gene_variant LUSC-KR 2 48043733 48043733 single base substitution C T intron_variant LUSC-KR 2 48043733 48043733 single base substitution C T upstream_gene_variant LUSC-KR 2 48054856 48054856 single base substitution G T intron_variant LUSC-KR 2 48067197 48067197 single base substitution C A intron_variant LUSC-KR 2 48067197 48067197 single base substitution C A upstream_gene_variant LUSC-KR 2 48067361 48067361 single base substitution C A intron_variant LUSC-KR 2 48067361 48067361 single base substitution C A upstream_gene_variant LUSC-KR 2 48067376 48067376 single base substitution C A intron_variant LUSC-KR 2 48067376 48067376 single base substitution C A upstream_gene_variant LUSC-KR 2 48069512 48069512 single base substitution C A intron_variant LUSC-KR 2 48072430 48072430 single base substitution C T intron_variant LUSC-KR 2 48085177 48085177 single base substitution A T intron_variant LUSC-KR 2 48088146 48088146 single base substitution C A intron_variant LUSC-KR 2 48094006 48094006 single base substitution C T intron_variant LUSC-KR 2 48097433 48097433 single base substitution A G intron_variant LUSC-KR 2 48097779 48097779 single base substitution C G intron_variant LUSC-KR 2 48098463 48098463 single base substitution T C intron_variant LUSC-KR 2 48109046 48109046 single base substitution C A intron_variant LUSC-KR 2 48109812 48109812 single base substitution C T intron_variant LUSC-KR 2 48113343 48113343 single base substitution C T intron_variant LUSC-KR 2 48117392 48117392 single base substitution C A intron_variant LUSC-KR 2 48117392 48117392 single base substitution C A upstream_gene_variant LUSC-KR 2 48117393 48117393 single base substitution A T intron_variant LUSC-KR 2 48117393 48117393 single base substitution A T upstream_gene_variant LUSC-KR 2 48119123 48119123 single base substitution G A intron_variant LUSC-KR 2 48119123 48119123 single base substitution G A upstream_gene_variant LUSC-KR 2 48119190 48119190 single base substitution C G intron_variant LUSC-KR 2 48119190 48119190 single base substitution C G upstream_gene_variant LUSC-KR 2 48122108 48122108 single base substitution C T intron_variant LUSC-KR 2 48125295 48125295 single base substitution C G intron_variant LUSC-KR 2 48126856 48126856 single base substitution C A intron_variant LUSC-KR 2 48127147 48127147 single base substitution C G intron_variant LUSC-KR 2 48127654 48127654 single base substitution C A intron_variant LUSC-KR 2 48128233 48128233 single base substitution T C intron_variant LUSC-KR 2 48128252 48128252 single base substitution G A intron_variant LUSC-KR 2 48128305 48128305 single base substitution T C intron_variant LUSC-KR 2 48128311 48128311 single base substitution T C intron_variant LUSC-KR 2 48128323 48128323 single base substitution G T intron_variant LUSC-KR 2 48130545 48130545 single base substitution T C intron_variant LUSC-KR 2 48135329 48135329 single base substitution G C upstream_gene_variant LUSC-US 2 48018263 48018263 single base substitution G T intron_variant LUSC-US 2 48026011 48026011 single base substitution G A intron_variant LUSC-US 2 48026133 48026133 single base substitution G A intron_variant LUSC-US 2 48027187 48027187 single base substitution T G intron_variant LUSC-US 2 48027425 48027425 single base substitution C A intron_variant LUSC-US 2 48035532 48035532 single base substitution T C downstream_gene_variant LUSC-US 2 48035532 48035532 single base substitution T C exon_variant LUSC-US 2 48035532 48035532 single base substitution T C missense_variant I18V 52A>G LUSC-US 2 48035532 48035532 single base substitution T C missense_variant I288V 862A>G LUSC-US 2 48035532 48035532 single base substitution T C missense_variant I780V 2338A>G LUSC-US 2 48035532 48035532 single base substitution T C missense_variant I864V 2590A>G LUSC-US 2 48040932 48040932 single base substitution G A downstream_gene_variant LUSC-US 2 48040932 48040932 single base substitution G A missense_variant S118F 353C>T LUSC-US 2 48040932 48040932 single base substitution G A missense_variant S485F 1454C>T LUSC-US 2 48040932 48040932 single base substitution G A missense_variant S610F 1829C>T LUSC-US 2 48040932 48040932 single base substitution G A missense_variant S694F 2081C>T LUSC-US 2 48040932 48040932 single base substitution G A splice_region_variant LUSC-US 2 48040932 48040932 single base substitution G A upstream_gene_variant LUSC-US 2 48059965 48059965 single base substitution T A downstream_gene_variant LUSC-US 2 48059965 48059965 single base substitution T A exon_variant LUSC-US 2 48059965 48059965 single base substitution T A missense_variant I157F 469A>T LUSC-US 2 48059965 48059965 single base substitution T A missense_variant I282F 844A>T LUSC-US 2 48059965 48059965 single base substitution T A missense_variant I366F 1096A>T LUSC-US 2 48059965 48059965 single base substitution T A upstream_gene_variant LUSC-US 2 48059968 48059968 single base substitution C T downstream_gene_variant LUSC-US 2 48059968 48059968 single base substitution C T exon_variant LUSC-US 2 48059968 48059968 single base substitution C T missense_variant E156K 466G>A LUSC-US 2 48059968 48059968 single base substitution C T missense_variant E281K 841G>A LUSC-US 2 48059968 48059968 single base substitution C T missense_variant E365K 1093G>A LUSC-US 2 48059968 48059968 single base substitution C T upstream_gene_variant LUSC-US 2 48063100 48063100 single base substitution T C downstream_gene_variant LUSC-US 2 48063100 48063100 single base substitution T C exon_variant LUSC-US 2 48063100 48063100 single base substitution T C missense_variant M126V 376A>G LUSC-US 2 48063100 48063100 single base substitution T C missense_variant M210V 628A>G LUSC-US 2 48063100 48063100 single base substitution T C start_lost M1V 1A>G LUSC-US 2 48063100 48063100 single base substitution T C upstream_gene_variant LUSC-US 2 48066854 48066854 single base substitution T C 5_prime_UTR_variant LUSC-US 2 48066854 48066854 single base substitution T C exon_variant LUSC-US 2 48066854 48066854 single base substitution T C missense_variant N12S 35A>G LUSC-US 2 48066854 48066854 single base substitution T C missense_variant N96S 287A>G LUSC-US 2 48066854 48066854 single base substitution T C upstream_gene_variant MALY-DE 2 48018996 48018996 single base substitution T A intron_variant MALY-DE 2 48021908 48021908 insertion of <=200bp - T intron_variant MALY-DE 2 48022003 48022003 single base substitution G C intron_variant MALY-DE 2 48028286 48028286 single base substitution C T intron_variant MALY-DE 2 48034381 48034381 single base substitution A G 3_prime_UTR_variant MALY-DE 2 48034381 48034381 single base substitution A G downstream_gene_variant MALY-DE 2 48034381 48034381 single base substitution A G exon_variant MALY-DE 2 48034381 48034381 single base substitution A G intron_variant MALY-DE 2 48035257 48035257 single base substitution T A downstream_gene_variant MALY-DE 2 48035257 48035257 single base substitution T A exon_variant MALY-DE 2 48035257 48035257 single base substitution T A intron_variant MALY-DE 2 48035257 48035257 single base substitution T A stop_lost *352C 1056A>T MALY-DE 2 48035257 48035257 single base substitution T A stop_lost *844C 2532A>T MALY-DE 2 48035257 48035257 single base substitution T A stop_lost *928C 2784A>T MALY-DE 2 48035504 48035504 single base substitution T C downstream_gene_variant MALY-DE 2 48035504 48035504 single base substitution T C exon_variant MALY-DE 2 48035504 48035504 single base substitution T C missense_variant H27R 80A>G MALY-DE 2 48035504 48035504 single base substitution T C missense_variant H297R 890A>G MALY-DE 2 48035504 48035504 single base substitution T C missense_variant H789R 2366A>G MALY-DE 2 48035504 48035504 single base substitution T C missense_variant H873R 2618A>G MALY-DE 2 48035568 48035568 single base substitution T C downstream_gene_variant MALY-DE 2 48035568 48035568 single base substitution T C splice_acceptor_variant MALY-DE 2 48036837 48036837 single base substitution A T downstream_gene_variant MALY-DE 2 48036837 48036837 single base substitution A T exon_variant MALY-DE 2 48036837 48036837 single base substitution A T missense_variant I207N 620T>A MALY-DE 2 48036837 48036837 single base substitution A T missense_variant I699N 2096T>A MALY-DE 2 48036837 48036837 single base substitution A T missense_variant I783N 2348T>A MALY-DE 2 48036837 48036837 single base substitution A T upstream_gene_variant MALY-DE 2 48036901 48036901 single base substitution A T downstream_gene_variant MALY-DE 2 48036901 48036901 single base substitution A T intron_variant MALY-DE 2 48036901 48036901 single base substitution A T upstream_gene_variant MALY-DE 2 48037490 48037490 insertion of <=200bp - A downstream_gene_variant MALY-DE 2 48037490 48037490 insertion of <=200bp - A exon_variant MALY-DE 2 48037490 48037490 insertion of <=200bp - A frameshift_variant L192F? MALY-DE 2 48037490 48037490 insertion of <=200bp - A frameshift_variant L684F? MALY-DE 2 48037490 48037490 insertion of <=200bp - A frameshift_variant L768F? MALY-DE 2 48037490 48037490 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 48037503 48037504 deletion of <=200bp TA - downstream_gene_variant MALY-DE 2 48037503 48037504 deletion of <=200bp TA - exon_variant MALY-DE 2 48037503 48037504 deletion of <=200bp TA - frameshift_variant NS187 MALY-DE 2 48037503 48037504 deletion of <=200bp TA - frameshift_variant NS679 MALY-DE 2 48037503 48037504 deletion of <=200bp TA - frameshift_variant NS763 MALY-DE 2 48037503 48037504 deletion of <=200bp TA - upstream_gene_variant MALY-DE 2 48038200 48038200 single base substitution T C downstream_gene_variant MALY-DE 2 48038200 48038200 single base substitution T C exon_variant MALY-DE 2 48038200 48038200 single base substitution T C intron_variant MALY-DE 2 48038200 48038200 single base substitution T C upstream_gene_variant MALY-DE 2 48040373 48040373 single base substitution C T missense_variant G167S 499G>A MALY-DE 2 48040373 48040373 single base substitution C T missense_variant G534S 1600G>A MALY-DE 2 48040373 48040373 single base substitution C T missense_variant G659S 1975G>A MALY-DE 2 48040373 48040373 single base substitution C T missense_variant G743S 2227G>A MALY-DE 2 48040373 48040373 single base substitution C T splice_region_variant MALY-DE 2 48040373 48040373 single base substitution C T upstream_gene_variant MALY-DE 2 48040518 48040518 single base substitution T C splice_acceptor_variant MALY-DE 2 48040518 48040518 single base substitution T C upstream_gene_variant MALY-DE 2 48040538 48040538 single base substitution T C intron_variant MALY-DE 2 48040538 48040538 single base substitution T C upstream_gene_variant MALY-DE 2 48045928 48045928 single base substitution C A exon_variant MALY-DE 2 48045928 48045928 single base substitution C A missense_variant V457F 1369G>T MALY-DE 2 48045928 48045928 single base substitution C A missense_variant V582F 1744G>T MALY-DE 2 48045928 48045928 single base substitution C A missense_variant V666F 1996G>T MALY-DE 2 48045928 48045928 single base substitution C A missense_variant V90F 268G>T MALY-DE 2 48045928 48045928 single base substitution C A upstream_gene_variant MALY-DE 2 48045966 48045966 single base substitution A G exon_variant MALY-DE 2 48045966 48045966 single base substitution A G missense_variant L444P 1331T>C MALY-DE 2 48045966 48045966 single base substitution A G missense_variant L569P 1706T>C MALY-DE 2 48045966 48045966 single base substitution A G missense_variant L653P 1958T>C MALY-DE 2 48045966 48045966 single base substitution A G missense_variant L77P 230T>C MALY-DE 2 48045966 48045966 single base substitution A G upstream_gene_variant MALY-DE 2 48047304 48047304 single base substitution A C intron_variant MALY-DE 2 48047538 48047538 single base substitution T C exon_variant MALY-DE 2 48047538 48047538 single base substitution T C intron_variant MALY-DE 2 48047538 48047538 single base substitution T C missense_variant N378S 1133A>G MALY-DE 2 48047538 48047538 single base substitution T C missense_variant N503S 1508A>G MALY-DE 2 48047538 48047538 single base substitution T C missense_variant N587S 1760A>G MALY-DE 2 48047710 48047710 single base substitution A T intron_variant MALY-DE 2 48048209 48048209 single base substitution G A intron_variant MALY-DE 2 48055803 48055803 single base substitution C G intron_variant MALY-DE 2 48055893 48055893 single base substitution T C intron_variant MALY-DE 2 48061656 48061656 single base substitution A T downstream_gene_variant MALY-DE 2 48061656 48061656 single base substitution A T intron_variant MALY-DE 2 48061656 48061656 single base substitution A T upstream_gene_variant MALY-DE 2 48066051 48066051 single base substitution T C exon_variant MALY-DE 2 48066051 48066051 single base substitution T C synonymous_variant R178R 534A>G MALY-DE 2 48066051 48066051 single base substitution T C synonymous_variant R60R 180A>G MALY-DE 2 48066051 48066051 single base substitution T C synonymous_variant R94R 282A>G MALY-DE 2 48066051 48066051 single base substitution T C upstream_gene_variant MALY-DE 2 48069865 48069865 single base substitution T C intron_variant MALY-DE 2 48075619 48075619 single base substitution A C intron_variant MALY-DE 2 48087769 48087771 deletion of <=200bp CTC - intron_variant MALY-DE 2 48093430 48093430 single base substitution T C intron_variant MALY-DE 2 48096411 48096411 single base substitution T G intron_variant MALY-DE 2 48114437 48114437 single base substitution T G intron_variant MALY-DE 2 48117263 48117263 insertion of <=200bp - TTAT intron_variant MALY-DE 2 48117263 48117263 insertion of <=200bp - TTAT upstream_gene_variant MALY-DE 2 48117951 48117951 deletion of <=200bp A - intron_variant MALY-DE 2 48117951 48117951 deletion of <=200bp A - upstream_gene_variant MALY-DE 2 48120005 48120005 single base substitution T A intron_variant MALY-DE 2 48120005 48120005 single base substitution T A upstream_gene_variant MALY-DE 2 48120493 48120494 deletion of <=200bp AT - intron_variant MALY-DE 2 48120493 48120494 deletion of <=200bp AT - upstream_gene_variant MALY-DE 2 48124710 48124710 single base substitution C T intron_variant MALY-DE 2 48132634 48132634 single base substitution C A 5_prime_UTR_variant MALY-DE 2 48132634 48132634 single base substitution C A exon_variant MALY-DE 2 48132634 48132634 single base substitution C A stop_gained E76* 226G>T MALY-DE 2 48132634 48132634 single base substitution C A upstream_gene_variant MALY-DE 2 48132748 48132748 single base substitution G A 5_prime_UTR_variant MALY-DE 2 48132748 48132748 single base substitution G A stop_gained Q38* 112C>T MALY-DE 2 48132748 48132748 single base substitution G A upstream_gene_variant MALY-DE 2 48136322 48136322 single base substitution C T upstream_gene_variant MELA-AU 2 48011785 48011785 single base substitution G A downstream_gene_variant MELA-AU 2 48011836 48011836 single base substitution A C downstream_gene_variant MELA-AU 2 48014043 48014043 single base substitution G A downstream_gene_variant MELA-AU 2 48014972 48014972 single base substitution G A downstream_gene_variant MELA-AU 2 48015805 48015805 single base substitution T G downstream_gene_variant MELA-AU 2 48015807 48015807 single base substitution C T downstream_gene_variant MELA-AU 2 48015907 48015907 single base substitution C T downstream_gene_variant MELA-AU 2 48016727 48016727 single base substitution C T intron_variant MELA-AU 2 48017528 48017528 single base substitution C T intron_variant MELA-AU 2 48017636 48017636 single base substitution T C intron_variant MELA-AU 2 48017908 48017908 single base substitution T C intron_variant MELA-AU 2 48018638 48018638 single base substitution C T intron_variant MELA-AU 2 48018932 48018932 single base substitution C T intron_variant MELA-AU 2 48018992 48018992 single base substitution A T intron_variant MELA-AU 2 48019213 48019213 single base substitution G C intron_variant MELA-AU 2 48019715 48019715 single base substitution C T intron_variant MELA-AU 2 48019867 48019867 single base substitution G A intron_variant MELA-AU 2 48019939 48019939 single base substitution C T intron_variant MELA-AU 2 48020177 48020178 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 48020443 48020443 single base substitution G A intron_variant MELA-AU 2 48020447 48020447 single base substitution G A intron_variant MELA-AU 2 48020719 48020719 single base substitution C T intron_variant MELA-AU 2 48020849 48020849 single base substitution C T intron_variant MELA-AU 2 48021326 48021326 single base substitution A C intron_variant MELA-AU 2 48022298 48022298 single base substitution C T intron_variant MELA-AU 2 48024143 48024143 single base substitution G T intron_variant MELA-AU 2 48024990 48024990 single base substitution C A intron_variant MELA-AU 2 48025998 48025998 single base substitution C T intron_variant MELA-AU 2 48026717 48026717 single base substitution C T intron_variant MELA-AU 2 48027006 48027006 single base substitution G A intron_variant MELA-AU 2 48029583 48029583 single base substitution C T downstream_gene_variant MELA-AU 2 48029583 48029583 single base substitution C T intron_variant MELA-AU 2 48030092 48030092 single base substitution C T downstream_gene_variant MELA-AU 2 48030092 48030092 single base substitution C T intron_variant MELA-AU 2 48030274 48030274 single base substitution C T downstream_gene_variant MELA-AU 2 48030274 48030274 single base substitution C T intron_variant MELA-AU 2 48031280 48031280 single base substitution T G downstream_gene_variant MELA-AU 2 48031280 48031280 single base substitution T G intron_variant MELA-AU 2 48033353 48033353 single base substitution T C downstream_gene_variant MELA-AU 2 48033353 48033353 single base substitution T C intron_variant MELA-AU 2 48034037 48034037 single base substitution A T downstream_gene_variant MELA-AU 2 48034037 48034037 single base substitution A T exon_variant MELA-AU 2 48034037 48034037 single base substitution A T intron_variant MELA-AU 2 48034356 48034356 single base substitution C T 3_prime_UTR_variant MELA-AU 2 48034356 48034356 single base substitution C T downstream_gene_variant MELA-AU 2 48034356 48034356 single base substitution C T exon_variant MELA-AU 2 48034356 48034356 single base substitution C T intron_variant MELA-AU 2 48034633 48034633 single base substitution T C 3_prime_UTR_variant MELA-AU 2 48034633 48034633 single base substitution T C downstream_gene_variant MELA-AU 2 48034633 48034633 single base substitution T C exon_variant MELA-AU 2 48034633 48034633 single base substitution T C intron_variant MELA-AU 2 48035006 48035006 single base substitution C T 3_prime_UTR_variant MELA-AU 2 48035006 48035006 single base substitution C T downstream_gene_variant MELA-AU 2 48035006 48035006 single base substitution C T exon_variant MELA-AU 2 48035006 48035006 single base substitution C T intron_variant MELA-AU 2 48035707 48035707 single base substitution G A downstream_gene_variant MELA-AU 2 48035707 48035707 single base substitution G A intron_variant MELA-AU 2 48036402 48036402 single base substitution T A downstream_gene_variant MELA-AU 2 48036402 48036402 single base substitution T A exon_variant MELA-AU 2 48036402 48036402 single base substitution T A missense_variant N241I 722A>T MELA-AU 2 48036402 48036402 single base substitution T A missense_variant N733I 2198A>T MELA-AU 2 48036402 48036402 single base substitution T A missense_variant N817I 2450A>T MELA-AU 2 48036402 48036402 single base substitution T A upstream_gene_variant MELA-AU 2 48039508 48039508 single base substitution C A downstream_gene_variant MELA-AU 2 48039508 48039508 single base substitution C A intron_variant MELA-AU 2 48039508 48039508 single base substitution C A upstream_gene_variant MELA-AU 2 48040133 48040133 single base substitution T C 3_prime_UTR_variant MELA-AU 2 48040133 48040133 single base substitution T C intron_variant MELA-AU 2 48040133 48040133 single base substitution T C upstream_gene_variant MELA-AU 2 48041317 48041317 single base substitution A T downstream_gene_variant MELA-AU 2 48041317 48041317 single base substitution A T exon_variant MELA-AU 2 48041317 48041317 single base substitution A T intron_variant MELA-AU 2 48041317 48041317 single base substitution A T upstream_gene_variant MELA-AU 2 48041318 48041318 single base substitution A G downstream_gene_variant MELA-AU 2 48041318 48041318 single base substitution A G exon_variant MELA-AU 2 48041318 48041318 single base substitution A G intron_variant MELA-AU 2 48041318 48041318 single base substitution A G upstream_gene_variant MELA-AU 2 48042959 48042959 single base substitution G A downstream_gene_variant MELA-AU 2 48042959 48042959 single base substitution G A intron_variant MELA-AU 2 48042959 48042959 single base substitution G A upstream_gene_variant MELA-AU 2 48043122 48043122 single base substitution G A downstream_gene_variant MELA-AU 2 48043122 48043122 single base substitution G A intron_variant MELA-AU 2 48043122 48043122 single base substitution G A upstream_gene_variant MELA-AU 2 48044690 48044690 single base substitution G A downstream_gene_variant MELA-AU 2 48044690 48044690 single base substitution G A intron_variant MELA-AU 2 48044690 48044690 single base substitution G A upstream_gene_variant MELA-AU 2 48045183 48045184 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 48045183 48045184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 48045183 48045184 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 48045461 48045461 single base substitution G A downstream_gene_variant MELA-AU 2 48045461 48045461 single base substitution G A intron_variant MELA-AU 2 48045461 48045461 single base substitution G A upstream_gene_variant MELA-AU 2 48046011 48046011 single base substitution T G intron_variant MELA-AU 2 48046011 48046011 single base substitution T G splice_region_variant MELA-AU 2 48046011 48046011 single base substitution T G upstream_gene_variant MELA-AU 2 48046166 48046166 single base substitution G A exon_variant MELA-AU 2 48046166 48046166 single base substitution G A synonymous_variant L408L 1222C>T MELA-AU 2 48046166 48046166 single base substitution G A synonymous_variant L41L 121C>T MELA-AU 2 48046166 48046166 single base substitution G A synonymous_variant L533L 1597C>T MELA-AU 2 48046166 48046166 single base substitution G A synonymous_variant L617L 1849C>T MELA-AU 2 48046166 48046166 single base substitution G A upstream_gene_variant MELA-AU 2 48049869 48049869 single base substitution G A intron_variant MELA-AU 2 48049871 48049871 single base substitution T C intron_variant MELA-AU 2 48050434 48050434 single base substitution A G 5_prime_UTR_variant MELA-AU 2 48050434 48050434 single base substitution A G exon_variant MELA-AU 2 48050434 48050434 single base substitution A G synonymous_variant A279A 837T>C MELA-AU 2 48050434 48050434 single base substitution A G synonymous_variant A404A 1212T>C MELA-AU 2 48050434 48050434 single base substitution A G synonymous_variant A488A 1464T>C MELA-AU 2 48050592 48050592 single base substitution T C intron_variant MELA-AU 2 48050818 48050818 single base substitution G A intron_variant MELA-AU 2 48052025 48052025 single base substitution G A intron_variant MELA-AU 2 48053011 48053011 single base substitution G A intron_variant MELA-AU 2 48053132 48053132 single base substitution G A intron_variant MELA-AU 2 48053335 48053335 single base substitution C G intron_variant MELA-AU 2 48054259 48054259 single base substitution G A intron_variant MELA-AU 2 48055026 48055026 single base substitution G A intron_variant MELA-AU 2 48055053 48055053 single base substitution C T intron_variant MELA-AU 2 48055449 48055449 single base substitution A C intron_variant MELA-AU 2 48055919 48055919 single base substitution G A intron_variant MELA-AU 2 48056019 48056019 single base substitution A T intron_variant MELA-AU 2 48056103 48056103 single base substitution G A intron_variant MELA-AU 2 48056218 48056218 single base substitution G A intron_variant MELA-AU 2 48056278 48056278 single base substitution C A intron_variant MELA-AU 2 48056342 48056342 single base substitution T A intron_variant MELA-AU 2 48057595 48057595 single base substitution G A intron_variant MELA-AU 2 48057603 48057603 single base substitution G A intron_variant MELA-AU 2 48058555 48058555 single base substitution G A downstream_gene_variant MELA-AU 2 48058555 48058555 single base substitution G A intron_variant MELA-AU 2 48058798 48058798 single base substitution G A downstream_gene_variant MELA-AU 2 48058798 48058798 single base substitution G A intron_variant MELA-AU 2 48058845 48058845 single base substitution T G downstream_gene_variant MELA-AU 2 48058845 48058845 single base substitution T G intron_variant MELA-AU 2 48058925 48058925 single base substitution G A downstream_gene_variant MELA-AU 2 48058925 48058925 single base substitution G A intron_variant MELA-AU 2 48060457 48060457 single base substitution G A downstream_gene_variant MELA-AU 2 48060457 48060457 single base substitution G A intron_variant MELA-AU 2 48060457 48060457 single base substitution G A upstream_gene_variant MELA-AU 2 48061132 48061132 single base substitution G A downstream_gene_variant MELA-AU 2 48061132 48061132 single base substitution G A intron_variant MELA-AU 2 48061132 48061132 single base substitution G A upstream_gene_variant MELA-AU 2 48061196 48061196 single base substitution G A downstream_gene_variant MELA-AU 2 48061196 48061196 single base substitution G A intron_variant MELA-AU 2 48061196 48061196 single base substitution G A upstream_gene_variant MELA-AU 2 48061247 48061247 single base substitution G A downstream_gene_variant MELA-AU 2 48061247 48061247 single base substitution G A intron_variant MELA-AU 2 48061247 48061247 single base substitution G A upstream_gene_variant MELA-AU 2 48061684 48061684 single base substitution A T downstream_gene_variant MELA-AU 2 48061684 48061684 single base substitution A T intron_variant MELA-AU 2 48061684 48061684 single base substitution A T upstream_gene_variant MELA-AU 2 48061827 48061827 single base substitution G A downstream_gene_variant MELA-AU 2 48061827 48061827 single base substitution G A exon_variant MELA-AU 2 48061827 48061827 single base substitution G A synonymous_variant A191A 573C>T MELA-AU 2 48061827 48061827 single base substitution G A synonymous_variant A275A 825C>T MELA-AU 2 48061827 48061827 single base substitution G A synonymous_variant A66A 198C>T MELA-AU 2 48061827 48061827 single base substitution G A upstream_gene_variant MELA-AU 2 48062058 48062058 single base substitution T C downstream_gene_variant MELA-AU 2 48062058 48062058 single base substitution T C intron_variant MELA-AU 2 48062058 48062058 single base substitution T C upstream_gene_variant MELA-AU 2 48062942 48062942 single base substitution T C downstream_gene_variant MELA-AU 2 48062942 48062942 single base substitution T C intron_variant MELA-AU 2 48062942 48062942 single base substitution T C upstream_gene_variant MELA-AU 2 48063106 48063106 single base substitution G A downstream_gene_variant MELA-AU 2 48063106 48063106 single base substitution G A exon_variant MELA-AU 2 48063106 48063106 single base substitution G A missense_variant R124C 370C>T MELA-AU 2 48063106 48063106 single base substitution G A missense_variant R208C 622C>T MELA-AU 2 48063106 48063106 single base substitution G A upstream_gene_variant MELA-AU 2 48063241 48063241 single base substitution G A downstream_gene_variant MELA-AU 2 48063241 48063241 single base substitution G A intron_variant MELA-AU 2 48063241 48063241 single base substitution G A upstream_gene_variant MELA-AU 2 48063438 48063438 single base substitution G A downstream_gene_variant MELA-AU 2 48063438 48063438 single base substitution G A intron_variant MELA-AU 2 48063438 48063438 single base substitution G A upstream_gene_variant MELA-AU 2 48063456 48063456 single base substitution G C downstream_gene_variant MELA-AU 2 48063456 48063456 single base substitution G C intron_variant MELA-AU 2 48063456 48063456 single base substitution G C upstream_gene_variant MELA-AU 2 48063571 48063571 single base substitution G A downstream_gene_variant MELA-AU 2 48063571 48063571 single base substitution G A intron_variant MELA-AU 2 48063571 48063571 single base substitution G A upstream_gene_variant MELA-AU 2 48064261 48064261 single base substitution A G intron_variant MELA-AU 2 48064261 48064261 single base substitution A G upstream_gene_variant MELA-AU 2 48064438 48064438 single base substitution G A intron_variant MELA-AU 2 48064438 48064438 single base substitution G A upstream_gene_variant MELA-AU 2 48064484 48064484 single base substitution G A intron_variant MELA-AU 2 48064484 48064484 single base substitution G A upstream_gene_variant MELA-AU 2 48064654 48064654 single base substitution G A intron_variant MELA-AU 2 48064654 48064654 single base substitution G A upstream_gene_variant MELA-AU 2 48064683 48064683 insertion of <=200bp - AT intron_variant MELA-AU 2 48064683 48064683 insertion of <=200bp - AT upstream_gene_variant MELA-AU 2 48065526 48065526 single base substitution G A intron_variant MELA-AU 2 48065526 48065526 single base substitution G A upstream_gene_variant MELA-AU 2 48066201 48066201 single base substitution G A intron_variant MELA-AU 2 48066201 48066201 single base substitution G A upstream_gene_variant MELA-AU 2 48067801 48067801 single base substitution C T intron_variant MELA-AU 2 48067801 48067801 single base substitution C T upstream_gene_variant MELA-AU 2 48068120 48068120 single base substitution G A intron_variant MELA-AU 2 48068143 48068143 single base substitution C T intron_variant MELA-AU 2 48069105 48069105 single base substitution G A intron_variant MELA-AU 2 48069412 48069412 single base substitution C T intron_variant MELA-AU 2 48069475 48069475 single base substitution G A intron_variant MELA-AU 2 48069896 48069896 single base substitution G A intron_variant MELA-AU 2 48070011 48070011 single base substitution C T intron_variant MELA-AU 2 48070373 48070373 single base substitution A C intron_variant MELA-AU 2 48070924 48070924 single base substitution G A intron_variant MELA-AU 2 48071064 48071064 single base substitution G A intron_variant MELA-AU 2 48071100 48071100 single base substitution G A intron_variant MELA-AU 2 48073399 48073399 single base substitution G A intron_variant MELA-AU 2 48074640 48074640 single base substitution G A intron_variant MELA-AU 2 48075127 48075127 single base substitution G A intron_variant MELA-AU 2 48075372 48075372 single base substitution A C intron_variant MELA-AU 2 48075574 48075574 single base substitution A G intron_variant MELA-AU 2 48075751 48075751 single base substitution A G intron_variant MELA-AU 2 48077037 48077037 single base substitution A T intron_variant MELA-AU 2 48077364 48077364 single base substitution G A intron_variant MELA-AU 2 48078634 48078634 single base substitution G A intron_variant MELA-AU 2 48079090 48079090 single base substitution G A intron_variant MELA-AU 2 48079481 48079481 single base substitution G A intron_variant MELA-AU 2 48079664 48079664 single base substitution G A intron_variant MELA-AU 2 48079954 48079954 single base substitution G A intron_variant MELA-AU 2 48080606 48080606 single base substitution A G intron_variant MELA-AU 2 48080629 48080629 single base substitution A G intron_variant MELA-AU 2 48080699 48080699 single base substitution G A intron_variant MELA-AU 2 48081690 48081690 single base substitution G A intron_variant MELA-AU 2 48085105 48085105 single base substitution T C intron_variant MELA-AU 2 48085177 48085177 single base substitution A T intron_variant MELA-AU 2 48086207 48086207 single base substitution A T intron_variant MELA-AU 2 48086613 48086613 single base substitution A C intron_variant MELA-AU 2 48088009 48088009 single base substitution G A intron_variant MELA-AU 2 48088021 48088021 single base substitution C T intron_variant MELA-AU 2 48088942 48088942 single base substitution C T intron_variant MELA-AU 2 48089548 48089548 single base substitution G A intron_variant MELA-AU 2 48090060 48090060 single base substitution G A intron_variant MELA-AU 2 48090605 48090605 single base substitution G A intron_variant MELA-AU 2 48090800 48090800 single base substitution G A intron_variant MELA-AU 2 48091224 48091224 deletion of <=200bp G - intron_variant MELA-AU 2 48091345 48091345 single base substitution A G intron_variant MELA-AU 2 48091440 48091440 single base substitution G A intron_variant MELA-AU 2 48091619 48091619 single base substitution G A intron_variant MELA-AU 2 48092529 48092529 single base substitution G A intron_variant MELA-AU 2 48093063 48093063 single base substitution G A intron_variant MELA-AU 2 48093391 48093391 single base substitution A T intron_variant MELA-AU 2 48094546 48094546 single base substitution G A intron_variant MELA-AU 2 48096572 48096572 single base substitution G A intron_variant MELA-AU 2 48096655 48096655 single base substitution G A intron_variant MELA-AU 2 48097710 48097710 deletion of <=200bp G - intron_variant MELA-AU 2 48098807 48098807 single base substitution G A intron_variant MELA-AU 2 48099190 48099190 single base substitution C A intron_variant MELA-AU 2 48100190 48100190 single base substitution A T intron_variant MELA-AU 2 48100853 48100853 single base substitution C A intron_variant MELA-AU 2 48101261 48101261 single base substitution G A intron_variant MELA-AU 2 48102294 48102294 single base substitution A G intron_variant MELA-AU 2 48102612 48102612 single base substitution G A intron_variant MELA-AU 2 48102678 48102678 single base substitution G A intron_variant MELA-AU 2 48102917 48102917 single base substitution G A intron_variant MELA-AU 2 48103698 48103698 single base substitution C T intron_variant MELA-AU 2 48104023 48104023 single base substitution G A intron_variant MELA-AU 2 48105577 48105577 single base substitution A G intron_variant MELA-AU 2 48105944 48105944 single base substitution A G intron_variant MELA-AU 2 48108191 48108191 single base substitution A G intron_variant MELA-AU 2 48108378 48108378 single base substitution G A intron_variant MELA-AU 2 48109169 48109169 single base substitution G A intron_variant MELA-AU 2 48109347 48109347 single base substitution G A intron_variant MELA-AU 2 48110211 48110211 deletion of <=200bp T - intron_variant MELA-AU 2 48110375 48110375 single base substitution T C intron_variant MELA-AU 2 48110663 48110663 single base substitution G A intron_variant MELA-AU 2 48111137 48111137 single base substitution G A intron_variant MELA-AU 2 48111534 48111534 single base substitution A G intron_variant MELA-AU 2 48111833 48111833 single base substitution A G intron_variant MELA-AU 2 48112499 48112499 single base substitution G A intron_variant MELA-AU 2 48112611 48112611 single base substitution G A intron_variant MELA-AU 2 48112763 48112763 single base substitution G A intron_variant MELA-AU 2 48113253 48113253 single base substitution A G intron_variant MELA-AU 2 48114087 48114087 single base substitution G A intron_variant MELA-AU 2 48116544 48116544 single base substitution T A intron_variant MELA-AU 2 48116544 48116544 single base substitution T A upstream_gene_variant MELA-AU 2 48116673 48116673 single base substitution G A intron_variant MELA-AU 2 48116673 48116673 single base substitution G A upstream_gene_variant MELA-AU 2 48117291 48117291 single base substitution G A intron_variant MELA-AU 2 48117291 48117291 single base substitution G A upstream_gene_variant MELA-AU 2 48117718 48117718 single base substitution G A intron_variant MELA-AU 2 48117718 48117718 single base substitution G A upstream_gene_variant MELA-AU 2 48118050 48118050 single base substitution G A intron_variant MELA-AU 2 48118050 48118050 single base substitution G A upstream_gene_variant MELA-AU 2 48118363 48118363 single base substitution G A intron_variant MELA-AU 2 48118363 48118363 single base substitution G A upstream_gene_variant MELA-AU 2 48118449 48118449 single base substitution A T intron_variant MELA-AU 2 48118449 48118449 single base substitution A T upstream_gene_variant MELA-AU 2 48119074 48119074 single base substitution G A intron_variant MELA-AU 2 48119074 48119074 single base substitution G A upstream_gene_variant MELA-AU 2 48119483 48119483 single base substitution G A intron_variant MELA-AU 2 48119483 48119483 single base substitution G A upstream_gene_variant MELA-AU 2 48119484 48119484 single base substitution G A intron_variant MELA-AU 2 48119484 48119484 single base substitution G A upstream_gene_variant MELA-AU 2 48121727 48121727 single base substitution C T intron_variant MELA-AU 2 48122041 48122041 single base substitution G A intron_variant MELA-AU 2 48123461 48123461 insertion of <=200bp - TTTCT intron_variant MELA-AU 2 48124256 48124256 single base substitution G A intron_variant MELA-AU 2 48124657 48124657 single base substitution G A intron_variant MELA-AU 2 48127784 48127784 single base substitution T C intron_variant MELA-AU 2 48128036 48128036 single base substitution T C intron_variant MELA-AU 2 48128204 48128204 single base substitution A G intron_variant MELA-AU 2 48128211 48128211 single base substitution T C intron_variant MELA-AU 2 48128242 48128242 single base substitution A G intron_variant MELA-AU 2 48128378 48128378 single base substitution G A intron_variant MELA-AU 2 48130892 48130892 single base substitution T C intron_variant MELA-AU 2 48131149 48131165 deletion of <=200bp TATAGCAAACTGCTTTC - intron_variant MELA-AU 2 48131165 48131165 single base substitution C A intron_variant MELA-AU 2 48131269 48131269 single base substitution G A intron_variant MELA-AU 2 48132835 48132835 single base substitution G A missense_variant R9W 25C>T MELA-AU 2 48132835 48132835 single base substitution G A upstream_gene_variant MELA-AU 2 48133130 48133130 single base substitution G T upstream_gene_variant MELA-AU 2 48133528 48133528 single base substitution C T upstream_gene_variant MELA-AU 2 48133725 48133725 single base substitution G A upstream_gene_variant MELA-AU 2 48133743 48133743 single base substitution C T upstream_gene_variant MELA-AU 2 48133803 48133803 single base substitution C T upstream_gene_variant MELA-AU 2 48133827 48133827 single base substitution T A upstream_gene_variant MELA-AU 2 48133829 48133829 single base substitution C T upstream_gene_variant MELA-AU 2 48134063 48134063 single base substitution C T upstream_gene_variant MELA-AU 2 48134127 48134127 single base substitution C T upstream_gene_variant MELA-AU 2 48134324 48134325 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 48135026 48135026 single base substitution G A upstream_gene_variant MELA-AU 2 48135216 48135216 single base substitution A G upstream_gene_variant MELA-AU 2 48135459 48135459 single base substitution C T upstream_gene_variant MELA-AU 2 48136399 48136399 single base substitution C T upstream_gene_variant MELA-AU 2 48136637 48136637 single base substitution T G upstream_gene_variant MELA-AU 2 48136940 48136940 single base substitution T G upstream_gene_variant MELA-AU 2 48137090 48137090 single base substitution T C upstream_gene_variant MELA-AU 2 48137482 48137482 single base substitution G A upstream_gene_variant MELA-AU 2 48137705 48137705 single base substitution C T upstream_gene_variant ORCA-IN 2 48024035 48024035 single base substitution G T intron_variant ORCA-IN 2 48037487 48037487 single base substitution C A downstream_gene_variant ORCA-IN 2 48037487 48037487 single base substitution C A exon_variant ORCA-IN 2 48037487 48037487 single base substitution C A missense_variant R193M 578G>T ORCA-IN 2 48037487 48037487 single base substitution C A missense_variant R685M 2054G>T ORCA-IN 2 48037487 48037487 single base substitution C A missense_variant R769M 2306G>T ORCA-IN 2 48037487 48037487 single base substitution C A upstream_gene_variant ORCA-IN 2 48041586 48041586 single base substitution T C downstream_gene_variant ORCA-IN 2 48041586 48041586 single base substitution T C intron_variant ORCA-IN 2 48041586 48041586 single base substitution T C upstream_gene_variant ORCA-IN 2 48055874 48055874 single base substitution C A intron_variant ORCA-IN 2 48088907 48088907 single base substitution G A intron_variant ORCA-IN 2 48101181 48101181 single base substitution G A intron_variant OV-AU 2 48018992 48018992 single base substitution A T intron_variant OV-AU 2 48021414 48021414 single base substitution C A intron_variant OV-AU 2 48027897 48027897 single base substitution A T intron_variant OV-AU 2 48031165 48031165 single base substitution C A downstream_gene_variant OV-AU 2 48031165 48031165 single base substitution C A intron_variant OV-AU 2 48045152 48045152 single base substitution G C downstream_gene_variant OV-AU 2 48045152 48045152 single base substitution G C intron_variant OV-AU 2 48045152 48045152 single base substitution G C upstream_gene_variant OV-AU 2 48048461 48048461 single base substitution C G intron_variant OV-AU 2 48052793 48052793 single base substitution G A intron_variant OV-AU 2 48058930 48058930 single base substitution C A downstream_gene_variant OV-AU 2 48058930 48058930 single base substitution C A intron_variant OV-AU 2 48064163 48064163 single base substitution C T intron_variant OV-AU 2 48064163 48064163 single base substitution C T synonymous_variant V82V 246G>A OV-AU 2 48064163 48064163 single base substitution C T upstream_gene_variant OV-AU 2 48070364 48070364 single base substitution A G intron_variant OV-AU 2 48071486 48071486 single base substitution C G intron_variant OV-AU 2 48073211 48073211 single base substitution C T intron_variant OV-AU 2 48082347 48082347 single base substitution T G intron_variant OV-AU 2 48083431 48083431 single base substitution C A intron_variant OV-AU 2 48084322 48084322 single base substitution C G intron_variant OV-AU 2 48086145 48086145 single base substitution A C intron_variant OV-AU 2 48086460 48086460 single base substitution T C intron_variant OV-AU 2 48088068 48088068 single base substitution C G intron_variant OV-AU 2 48090483 48090483 single base substitution G C intron_variant OV-AU 2 48093260 48093260 single base substitution C G intron_variant OV-AU 2 48093695 48093695 single base substitution C T intron_variant OV-AU 2 48101616 48101616 single base substitution T C intron_variant OV-AU 2 48104054 48104054 single base substitution C G intron_variant OV-AU 2 48110991 48110991 single base substitution T G intron_variant OV-AU 2 48130188 48130188 single base substitution C G intron_variant OV-AU 2 48132711 48132711 single base substitution T G 5_prime_UTR_variant OV-AU 2 48132711 48132711 single base substitution T G missense_variant Q50P 149A>C OV-AU 2 48132711 48132711 single base substitution T G upstream_gene_variant OV-US 2 48028254 48028254 single base substitution C G intron_variant PACA-AU 2 48016132 48016132 single base substitution T A downstream_gene_variant PACA-AU 2 48021107 48021107 single base substitution G T intron_variant PACA-AU 2 48023570 48023570 single base substitution G T intron_variant PACA-AU 2 48031616 48031616 single base substitution T C downstream_gene_variant PACA-AU 2 48031616 48031616 single base substitution T C intron_variant PACA-AU 2 48033890 48033890 single base substitution C T downstream_gene_variant PACA-AU 2 48033890 48033890 single base substitution C T intron_variant PACA-AU 2 48033898 48033898 single base substitution T C downstream_gene_variant PACA-AU 2 48033898 48033898 single base substitution T C exon_variant PACA-AU 2 48033898 48033898 single base substitution T C intron_variant PACA-AU 2 48048228 48048228 single base substitution A T intron_variant PACA-AU 2 48056370 48056370 single base substitution A G intron_variant PACA-AU 2 48061089 48061089 single base substitution G C downstream_gene_variant PACA-AU 2 48061089 48061089 single base substitution G C intron_variant PACA-AU 2 48061089 48061089 single base substitution G C upstream_gene_variant PACA-AU 2 48064839 48064839 single base substitution G A intron_variant PACA-AU 2 48064839 48064839 single base substitution G A upstream_gene_variant PACA-AU 2 48066419 48066419 single base substitution G C intron_variant PACA-AU 2 48066419 48066419 single base substitution G C upstream_gene_variant PACA-AU 2 48066945 48066945 deletion of <=200bp T - intron_variant PACA-AU 2 48066945 48066945 deletion of <=200bp T - upstream_gene_variant PACA-AU 2 48067976 48067976 single base substitution A C intron_variant PACA-AU 2 48067976 48067976 single base substitution A C upstream_gene_variant PACA-AU 2 48075279 48075279 insertion of <=200bp - A intron_variant PACA-AU 2 48087167 48087167 single base substitution G A intron_variant PACA-AU 2 48089517 48089517 single base substitution C A intron_variant PACA-AU 2 48090219 48090219 single base substitution C A intron_variant PACA-AU 2 48092787 48092787 single base substitution C A intron_variant PACA-AU 2 48107997 48107997 insertion of <=200bp - GT intron_variant PACA-AU 2 48110753 48110753 single base substitution C T intron_variant PACA-AU 2 48111098 48111098 single base substitution C T intron_variant PACA-AU 2 48113870 48113870 single base substitution A G intron_variant PACA-AU 2 48117960 48117960 single base substitution A T intron_variant PACA-AU 2 48117960 48117960 single base substitution A T upstream_gene_variant PACA-AU 2 48123461 48123461 insertion of <=200bp - TTTCT intron_variant PACA-AU 2 48127768 48127768 single base substitution C T intron_variant PACA-AU 2 48127964 48127964 single base substitution T C intron_variant PACA-AU 2 48128034 48128034 single base substitution T C intron_variant PACA-AU 2 48128036 48128036 single base substitution T A intron_variant PACA-AU 2 48128263 48128263 single base substitution T G intron_variant PACA-AU 2 48128496 48128496 single base substitution C G intron_variant PACA-AU 2 48135365 48135365 single base substitution G A upstream_gene_variant PACA-CA 2 48015212 48015212 single base substitution A G downstream_gene_variant PACA-CA 2 48016253 48016253 single base substitution C T downstream_gene_variant PACA-CA 2 48022272 48022272 single base substitution G A intron_variant PACA-CA 2 48022278 48022278 single base substitution C T intron_variant PACA-CA 2 48022412 48022412 single base substitution T C intron_variant PACA-CA 2 48022493 48022493 single base substitution C T intron_variant PACA-CA 2 48024705 48024705 single base substitution G A intron_variant PACA-CA 2 48025327 48025327 single base substitution G T intron_variant PACA-CA 2 48025626 48025632 deletion of <=200bp AAAAATG - intron_variant PACA-CA 2 48028945 48028945 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 48028945 48028945 insertion of <=200bp - T intron_variant PACA-CA 2 48030064 48030064 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 48030064 48030064 insertion of <=200bp - T intron_variant PACA-CA 2 48033512 48033512 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 48033512 48033512 deletion of <=200bp T - intron_variant PACA-CA 2 48038752 48038752 single base substitution T A downstream_gene_variant PACA-CA 2 48038752 48038752 single base substitution T A exon_variant PACA-CA 2 48038752 48038752 single base substitution T A intron_variant PACA-CA 2 48038752 48038752 single base substitution T A upstream_gene_variant PACA-CA 2 48044417 48044417 single base substitution T C downstream_gene_variant PACA-CA 2 48044417 48044417 single base substitution T C intron_variant PACA-CA 2 48044417 48044417 single base substitution T C upstream_gene_variant PACA-CA 2 48046013 48046013 single base substitution A T intron_variant PACA-CA 2 48046013 48046013 single base substitution A T upstream_gene_variant PACA-CA 2 48048955 48048955 single base substitution C T intron_variant PACA-CA 2 48049735 48049735 single base substitution C A intron_variant PACA-CA 2 48050590 48050590 single base substitution A G intron_variant PACA-CA 2 48053461 48053461 single base substitution G A intron_variant PACA-CA 2 48053902 48053902 single base substitution C T intron_variant PACA-CA 2 48054255 48054255 single base substitution T A intron_variant PACA-CA 2 48059670 48059670 single base substitution A T downstream_gene_variant PACA-CA 2 48059670 48059670 single base substitution A T intron_variant PACA-CA 2 48059670 48059670 single base substitution A T upstream_gene_variant PACA-CA 2 48062180 48062180 single base substitution G A downstream_gene_variant PACA-CA 2 48062180 48062180 single base substitution G A intron_variant PACA-CA 2 48062180 48062180 single base substitution G A upstream_gene_variant PACA-CA 2 48065545 48065545 insertion of <=200bp - A intron_variant PACA-CA 2 48065545 48065545 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 48066784 48066784 single base substitution C T exon_variant PACA-CA 2 48066784 48066784 single base substitution C T missense_variant M119I 357G>A PACA-CA 2 48066784 48066784 single base substitution C T missense_variant M35I 105G>A PACA-CA 2 48066784 48066784 single base substitution C T start_lost M1I 3G>A PACA-CA 2 48066784 48066784 single base substitution C T upstream_gene_variant PACA-CA 2 48067399 48067399 single base substitution A T intron_variant PACA-CA 2 48067399 48067399 single base substitution A T upstream_gene_variant PACA-CA 2 48068675 48068675 single base substitution T C intron_variant PACA-CA 2 48070097 48070097 insertion of <=200bp - T intron_variant PACA-CA 2 48072663 48072663 single base substitution A C intron_variant PACA-CA 2 48072804 48072804 single base substitution T C intron_variant PACA-CA 2 48075719 48075719 single base substitution A G intron_variant PACA-CA 2 48076706 48076706 deletion of <=200bp C - intron_variant PACA-CA 2 48079079 48079079 single base substitution T C intron_variant PACA-CA 2 48082352 48082352 single base substitution G T intron_variant PACA-CA 2 48084496 48084496 single base substitution G A intron_variant PACA-CA 2 48085439 48085439 single base substitution G A intron_variant PACA-CA 2 48088168 48088168 single base substitution T C intron_variant PACA-CA 2 48088936 48088936 single base substitution C T intron_variant PACA-CA 2 48091079 48091079 single base substitution C T intron_variant PACA-CA 2 48092752 48092752 single base substitution A C intron_variant PACA-CA 2 48098361 48098361 single base substitution C T intron_variant PACA-CA 2 48098732 48098732 single base substitution C A intron_variant PACA-CA 2 48100581 48100581 single base substitution C A intron_variant PACA-CA 2 48105325 48105325 single base substitution T C intron_variant PACA-CA 2 48108518 48108518 single base substitution T A intron_variant PACA-CA 2 48109651 48109651 single base substitution C T intron_variant PACA-CA 2 48112396 48112396 deletion of <=200bp A - intron_variant PACA-CA 2 48115182 48115182 insertion of <=200bp - AT intron_variant PACA-CA 2 48120408 48120408 single base substitution C G intron_variant PACA-CA 2 48120408 48120408 single base substitution C G upstream_gene_variant PACA-CA 2 48121419 48121419 single base substitution T C intron_variant PACA-CA 2 48125116 48125116 single base substitution T C intron_variant PACA-CA 2 48126429 48126429 single base substitution A G intron_variant PACA-CA 2 48128270 48128293 deletion of <=200bp GTATATATATACACACGTGTGTAC - intron_variant PACA-CA 2 48128568 48128568 single base substitution T C intron_variant PACA-CA 2 48129042 48129042 single base substitution T C intron_variant PACA-CA 2 48129651 48129651 single base substitution G A intron_variant PACA-CA 2 48130879 48130879 single base substitution T C intron_variant PACA-CA 2 48133360 48133360 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 48133899 48133899 single base substitution T G upstream_gene_variant PACA-CA 2 48136129 48136129 single base substitution A G upstream_gene_variant PACA-CA 2 48136492 48136492 single base substitution A T upstream_gene_variant PAEN-AU 2 48054603 48054603 single base substitution G A intron_variant PAEN-AU 2 48072281 48072281 single base substitution A C intron_variant PAEN-AU 2 48092008 48092008 single base substitution T C intron_variant PAEN-AU 2 48097424 48097424 single base substitution C A intron_variant PAEN-AU 2 48128245 48128245 single base substitution T C intron_variant PAEN-IT 2 48026989 48026989 single base substitution C T intron_variant PAEN-IT 2 48049346 48049346 single base substitution C T intron_variant PAEN-IT 2 48108582 48108582 single base substitution C A intron_variant PAEN-IT 2 48120795 48120795 single base substitution T C intron_variant PAEN-IT 2 48120795 48120795 single base substitution T C upstream_gene_variant PBCA-DE 2 48018682 48018682 single base substitution C T intron_variant PBCA-DE 2 48022562 48022563 deletion of <=200bp TG - intron_variant PBCA-DE 2 48023108 48023108 single base substitution G A intron_variant PBCA-DE 2 48027541 48027541 deletion of <=200bp G - intron_variant PBCA-DE 2 48032613 48032613 single base substitution G A downstream_gene_variant PBCA-DE 2 48032613 48032613 single base substitution G A intron_variant PBCA-DE 2 48032811 48032811 single base substitution C A downstream_gene_variant PBCA-DE 2 48032811 48032811 single base substitution C A intron_variant PBCA-DE 2 48033090 48033090 single base substitution G A downstream_gene_variant PBCA-DE 2 48033090 48033090 single base substitution G A intron_variant PBCA-DE 2 48034357 48034357 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 2 48034357 48034357 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 48034357 48034357 insertion of <=200bp - A exon_variant PBCA-DE 2 48034357 48034357 insertion of <=200bp - A intron_variant PBCA-DE 2 48039797 48039797 single base substitution T C downstream_gene_variant PBCA-DE 2 48039797 48039797 single base substitution T C intron_variant PBCA-DE 2 48039797 48039797 single base substitution T C upstream_gene_variant PBCA-DE 2 48040938 48040938 single base substitution T C downstream_gene_variant PBCA-DE 2 48040938 48040938 single base substitution T C exon_variant PBCA-DE 2 48040938 48040938 single base substitution T C missense_variant Y116C 347A>G PBCA-DE 2 48040938 48040938 single base substitution T C missense_variant Y483C 1448A>G PBCA-DE 2 48040938 48040938 single base substitution T C missense_variant Y608C 1823A>G PBCA-DE 2 48040938 48040938 single base substitution T C missense_variant Y692C 2075A>G PBCA-DE 2 48040938 48040938 single base substitution T C upstream_gene_variant PBCA-DE 2 48054606 48054606 single base substitution C T intron_variant PBCA-DE 2 48055135 48055135 single base substitution A C intron_variant PBCA-DE 2 48062640 48062640 deletion of <=200bp T - downstream_gene_variant PBCA-DE 2 48062640 48062640 deletion of <=200bp T - intron_variant PBCA-DE 2 48062640 48062640 deletion of <=200bp T - upstream_gene_variant PBCA-DE 2 48070210 48070210 single base substitution T C intron_variant PBCA-DE 2 48070233 48070233 single base substitution A T intron_variant PBCA-DE 2 48075218 48075218 single base substitution G A intron_variant PBCA-DE 2 48087302 48087302 deletion of <=200bp T - intron_variant PBCA-DE 2 48101957 48101967 deletion of <=200bp TGCCACCATGC - intron_variant PBCA-DE 2 48101972 48101972 deletion of <=200bp C - intron_variant PBCA-DE 2 48107753 48107753 single base substitution C T intron_variant PBCA-DE 2 48115230 48115230 single base substitution G A intron_variant PBCA-DE 2 48127771 48127776 deletion of <=200bp ACACGT - intron_variant PBCA-DE 2 48128294 48128294 insertion of <=200bp - AT intron_variant PBCA-DE 2 48132711 48132711 single base substitution T G 5_prime_UTR_variant PBCA-DE 2 48132711 48132711 single base substitution T G missense_variant Q50P 149A>C PBCA-DE 2 48132711 48132711 single base substitution T G upstream_gene_variant PRAD-CA 2 48067561 48067561 single base substitution T G intron_variant PRAD-CA 2 48067561 48067561 single base substitution T G upstream_gene_variant PRAD-CA 2 48073769 48073769 single base substitution A T intron_variant PRAD-CA 2 48078455 48078455 single base substitution T C intron_variant PRAD-CA 2 48086560 48086560 single base substitution A T intron_variant PRAD-CA 2 48116057 48116057 single base substitution T A intron_variant PRAD-CA 2 48116057 48116057 single base substitution T A upstream_gene_variant PRAD-CA 2 48118081 48118081 single base substitution T A intron_variant PRAD-CA 2 48118081 48118081 single base substitution T A upstream_gene_variant PRAD-CA 2 48118979 48118979 single base substitution G A intron_variant PRAD-CA 2 48118979 48118979 single base substitution G A upstream_gene_variant PRAD-CA 2 48123657 48123657 single base substitution C T intron_variant PRAD-UK 2 48025393 48025393 single base substitution C T intron_variant PRAD-UK 2 48038811 48038811 single base substitution C G downstream_gene_variant PRAD-UK 2 48038811 48038811 single base substitution C G intron_variant PRAD-UK 2 48038811 48038811 single base substitution C G upstream_gene_variant PRAD-UK 2 48046013 48046013 single base substitution A T intron_variant PRAD-UK 2 48046013 48046013 single base substitution A T upstream_gene_variant PRAD-UK 2 48089983 48089983 single base substitution C A intron_variant PRAD-UK 2 48108040 48108040 single base substitution C G intron_variant PRAD-UK 2 48115182 48115182 single base substitution G C intron_variant PRAD-US 2 48026269 48026269 single base substitution A G intron_variant PRAD-US 2 48059590 48059590 single base substitution C T 5_prime_UTR_variant PRAD-US 2 48059590 48059590 single base substitution C T downstream_gene_variant PRAD-US 2 48059590 48059590 single base substitution C T exon_variant PRAD-US 2 48059590 48059590 single base substitution C T synonymous_variant A223A 669G>A PRAD-US 2 48059590 48059590 single base substitution C T synonymous_variant A348A 1044G>A PRAD-US 2 48059590 48059590 single base substitution C T synonymous_variant A432A 1296G>A READ-US 2 48023116 48023116 single base substitution G A intron_variant READ-US 2 48026412 48026412 single base substitution G A intron_variant READ-US 2 48030689 48030689 single base substitution G T downstream_gene_variant READ-US 2 48030689 48030689 single base substitution G T intron_variant READ-US 2 48033393 48033393 single base substitution A C downstream_gene_variant READ-US 2 48033393 48033393 single base substitution A C intron_variant READ-US 2 48046138 48046138 single base substitution C A exon_variant READ-US 2 48046138 48046138 single base substitution C A missense_variant S417I 1250G>T READ-US 2 48046138 48046138 single base substitution C A missense_variant S50I 149G>T READ-US 2 48046138 48046138 single base substitution C A missense_variant S542I 1625G>T READ-US 2 48046138 48046138 single base substitution C A missense_variant S626I 1877G>T READ-US 2 48046138 48046138 single base substitution C A upstream_gene_variant READ-US 2 48066032 48066032 single base substitution G A exon_variant READ-US 2 48066032 48066032 single base substitution G A missense_variant R101C 301C>T READ-US 2 48066032 48066032 single base substitution G A missense_variant R185C 553C>T READ-US 2 48066032 48066032 single base substitution G A missense_variant R67C 199C>T READ-US 2 48066032 48066032 single base substitution G A upstream_gene_variant RECA-EU 2 48020127 48020127 single base substitution T G intron_variant RECA-EU 2 48024349 48024349 single base substitution C T intron_variant RECA-EU 2 48027581 48027581 single base substitution G A intron_variant RECA-EU 2 48028305 48028305 single base substitution G T intron_variant RECA-EU 2 48028504 48028504 single base substitution T G intron_variant RECA-EU 2 48031352 48031352 single base substitution C A downstream_gene_variant RECA-EU 2 48031352 48031352 single base substitution C A intron_variant RECA-EU 2 48034866 48034866 single base substitution A C 3_prime_UTR_variant RECA-EU 2 48034866 48034866 single base substitution A C downstream_gene_variant RECA-EU 2 48034866 48034866 single base substitution A C exon_variant RECA-EU 2 48034866 48034866 single base substitution A C intron_variant RECA-EU 2 48035949 48035949 single base substitution A G downstream_gene_variant RECA-EU 2 48035949 48035949 single base substitution A G intron_variant RECA-EU 2 48037778 48037778 single base substitution T A downstream_gene_variant RECA-EU 2 48037778 48037778 single base substitution T A exon_variant RECA-EU 2 48037778 48037778 single base substitution T A intron_variant RECA-EU 2 48037778 48037778 single base substitution T A upstream_gene_variant RECA-EU 2 48037786 48037786 single base substitution C T downstream_gene_variant RECA-EU 2 48037786 48037786 single base substitution C T exon_variant RECA-EU 2 48037786 48037786 single base substitution C T intron_variant RECA-EU 2 48037786 48037786 single base substitution C T upstream_gene_variant RECA-EU 2 48046330 48046330 single base substitution G C intron_variant RECA-EU 2 48046330 48046330 single base substitution G C upstream_gene_variant RECA-EU 2 48053597 48053597 single base substitution C T intron_variant RECA-EU 2 48071409 48071409 single base substitution A C intron_variant RECA-EU 2 48072229 48072229 single base substitution T C intron_variant RECA-EU 2 48074854 48074854 single base substitution T G intron_variant RECA-EU 2 48080494 48080494 single base substitution C G intron_variant RECA-EU 2 48080780 48080780 single base substitution C T intron_variant RECA-EU 2 48096009 48096009 single base substitution C T intron_variant RECA-EU 2 48100701 48100701 single base substitution T A intron_variant RECA-EU 2 48101306 48101306 single base substitution T C intron_variant RECA-EU 2 48104730 48104730 single base substitution T A intron_variant RECA-EU 2 48116466 48116466 single base substitution T C intron_variant RECA-EU 2 48116466 48116466 single base substitution T C upstream_gene_variant RECA-EU 2 48121473 48121473 single base substitution A G intron_variant SKCA-BR 2 48012405 48012405 single base substitution C T downstream_gene_variant SKCA-BR 2 48012447 48012447 single base substitution A C downstream_gene_variant SKCA-BR 2 48013476 48013477 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 2 48016039 48016066 deletion of <=200bp CTTCTTCCTTTTTTTTTTTTTTGTTTTT - downstream_gene_variant SKCA-BR 2 48016061 48016061 single base substitution G T downstream_gene_variant SKCA-BR 2 48018610 48018610 single base substitution G T intron_variant SKCA-BR 2 48018994 48018994 single base substitution T A intron_variant SKCA-BR 2 48023433 48023433 single base substitution T G intron_variant SKCA-BR 2 48024876 48024876 single base substitution C T intron_variant SKCA-BR 2 48027176 48027176 single base substitution G A intron_variant SKCA-BR 2 48029774 48029776 deletion of <=200bp GTT - downstream_gene_variant SKCA-BR 2 48029774 48029776 deletion of <=200bp GTT - intron_variant SKCA-BR 2 48030304 48030304 single base substitution G A downstream_gene_variant SKCA-BR 2 48030304 48030304 single base substitution G A intron_variant SKCA-BR 2 48031674 48031675 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 2 48031674 48031675 deletion of <=200bp TA - intron_variant SKCA-BR 2 48033890 48033891 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 48033890 48033891 deletion of <=200bp CT - exon_variant SKCA-BR 2 48033890 48033891 deletion of <=200bp CT - intron_variant SKCA-BR 2 48034250 48034250 single base substitution T A 3_prime_UTR_variant SKCA-BR 2 48034250 48034250 single base substitution T A downstream_gene_variant SKCA-BR 2 48034250 48034250 single base substitution T A exon_variant SKCA-BR 2 48034250 48034250 single base substitution T A intron_variant SKCA-BR 2 48043101 48043101 single base substitution A T downstream_gene_variant SKCA-BR 2 48043101 48043101 single base substitution A T intron_variant SKCA-BR 2 48043101 48043101 single base substitution A T upstream_gene_variant SKCA-BR 2 48044468 48044468 single base substitution T G downstream_gene_variant SKCA-BR 2 48044468 48044468 single base substitution T G intron_variant SKCA-BR 2 48044468 48044468 single base substitution T G upstream_gene_variant SKCA-BR 2 48044772 48044772 single base substitution C T downstream_gene_variant SKCA-BR 2 48044772 48044772 single base substitution C T intron_variant SKCA-BR 2 48044772 48044772 single base substitution C T upstream_gene_variant SKCA-BR 2 48045000 48045000 single base substitution G A downstream_gene_variant SKCA-BR 2 48045000 48045000 single base substitution G A intron_variant SKCA-BR 2 48045000 48045000 single base substitution G A upstream_gene_variant SKCA-BR 2 48049118 48049118 single base substitution G A intron_variant SKCA-BR 2 48053828 48053828 single base substitution G A intron_variant SKCA-BR 2 48056196 48056196 single base substitution G A intron_variant SKCA-BR 2 48057562 48057562 single base substitution A G intron_variant SKCA-BR 2 48061506 48061506 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 2 48061506 48061506 insertion of <=200bp - TG intron_variant SKCA-BR 2 48061506 48061506 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 2 48067590 48067590 insertion of <=200bp - CT intron_variant SKCA-BR 2 48067590 48067590 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 48067590 48067591 deletion of <=200bp CT - intron_variant SKCA-BR 2 48067590 48067591 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 2 48067653 48067653 single base substitution G A intron_variant SKCA-BR 2 48067653 48067653 single base substitution G A upstream_gene_variant SKCA-BR 2 48069918 48069919 deletion of <=200bp TA - intron_variant SKCA-BR 2 48070867 48070867 insertion of <=200bp - GCTT intron_variant SKCA-BR 2 48087982 48087984 deletion of <=200bp ATT - intron_variant SKCA-BR 2 48094337 48094337 single base substitution G C intron_variant SKCA-BR 2 48095974 48095974 single base substitution T G intron_variant SKCA-BR 2 48096282 48096282 single base substitution C T intron_variant SKCA-BR 2 48100999 48100999 single base substitution A G intron_variant SKCA-BR 2 48105195 48105195 single base substitution C T intron_variant SKCA-BR 2 48107466 48107466 single base substitution A G intron_variant SKCA-BR 2 48110798 48110798 single base substitution C T intron_variant SKCA-BR 2 48113640 48113640 insertion of <=200bp - CA intron_variant SKCA-BR 2 48113640 48113641 deletion of <=200bp CA - intron_variant SKCA-BR 2 48114593 48114593 single base substitution C T intron_variant SKCA-BR 2 48115092 48115092 single base substitution G A intron_variant SKCA-BR 2 48116126 48116126 single base substitution G A intron_variant SKCA-BR 2 48116126 48116126 single base substitution G A upstream_gene_variant SKCA-BR 2 48118135 48118135 insertion of <=200bp - AT intron_variant SKCA-BR 2 48118135 48118135 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 2 48119305 48119305 single base substitution G A intron_variant SKCA-BR 2 48119305 48119305 single base substitution G A upstream_gene_variant SKCA-BR 2 48124840 48124840 insertion of <=200bp - CA intron_variant SKCA-BR 2 48126412 48126412 insertion of <=200bp - CA intron_variant SKCA-BR 2 48127098 48127098 single base substitution G A intron_variant SKCA-BR 2 48127726 48127748 deletion of <=200bp TACGTATATACACACGTATACAC - intron_variant SKCA-BR 2 48127770 48127776 deletion of <=200bp CACACGT - intron_variant SKCA-BR 2 48127946 48127946 insertion of <=200bp - TAC intron_variant SKCA-BR 2 48127948 48127974 deletion of <=200bp CACACACGTGTATATATATACACGTAT - intron_variant SKCA-BR 2 48127957 48127959 deletion of <=200bp GTA - intron_variant SKCA-BR 2 48127974 48127974 insertion of <=200bp - TAC intron_variant SKCA-BR 2 48130058 48130058 insertion of <=200bp - TA intron_variant SKCA-BR 2 48132539 48132539 single base substitution G C intron_variant SKCA-BR 2 48132539 48132539 single base substitution G C upstream_gene_variant SKCA-BR 2 48136185 48136185 single base substitution C G upstream_gene_variant SKCM-US 2 48023039 48023039 single base substitution A G intron_variant SKCM-US 2 48027152 48027152 single base substitution G T intron_variant SKCM-US 2 48027726 48027726 single base substitution G T intron_variant SKCM-US 2 48030752 48030752 single base substitution G A downstream_gene_variant SKCM-US 2 48030752 48030752 single base substitution G A intron_variant SKCM-US 2 48036402 48036402 single base substitution T A downstream_gene_variant SKCM-US 2 48036402 48036402 single base substitution T A exon_variant SKCM-US 2 48036402 48036402 single base substitution T A missense_variant N241I 722A>T SKCM-US 2 48036402 48036402 single base substitution T A missense_variant N733I 2198A>T SKCM-US 2 48036402 48036402 single base substitution T A missense_variant N817I 2450A>T SKCM-US 2 48036402 48036402 single base substitution T A upstream_gene_variant SKCM-US 2 48036847 48036847 single base substitution C G downstream_gene_variant SKCM-US 2 48036847 48036847 single base substitution C G splice_acceptor_variant SKCM-US 2 48036847 48036847 single base substitution C G upstream_gene_variant SKCM-US 2 48040456 48040456 single base substitution T G exon_variant SKCM-US 2 48040456 48040456 single base substitution T G missense_variant K139T 416A>C SKCM-US 2 48040456 48040456 single base substitution T G missense_variant K506T 1517A>C SKCM-US 2 48040456 48040456 single base substitution T G missense_variant K631T 1892A>C SKCM-US 2 48040456 48040456 single base substitution T G missense_variant K715T 2144A>C SKCM-US 2 48040456 48040456 single base substitution T G upstream_gene_variant SKCM-US 2 48047553 48047553 single base substitution G A exon_variant SKCM-US 2 48047553 48047553 single base substitution G A intron_variant SKCM-US 2 48047553 48047553 single base substitution G A missense_variant P373L 1118C>T SKCM-US 2 48047553 48047553 single base substitution G A missense_variant P498L 1493C>T SKCM-US 2 48047553 48047553 single base substitution G A missense_variant P582L 1745C>T SKCM-US 2 48050434 48050434 single base substitution A G 5_prime_UTR_variant SKCM-US 2 48050434 48050434 single base substitution A G exon_variant SKCM-US 2 48050434 48050434 single base substitution A G synonymous_variant A279A 837T>C SKCM-US 2 48050434 48050434 single base substitution A G synonymous_variant A404A 1212T>C SKCM-US 2 48050434 48050434 single base substitution A G synonymous_variant A488A 1464T>C SKCM-US 2 48059943 48059943 single base substitution A T downstream_gene_variant SKCM-US 2 48059943 48059943 single base substitution A T exon_variant SKCM-US 2 48059943 48059943 single base substitution A T missense_variant I164N 491T>A SKCM-US 2 48059943 48059943 single base substitution A T missense_variant I289N 866T>A SKCM-US 2 48059943 48059943 single base substitution A T missense_variant I373N 1118T>A SKCM-US 2 48059943 48059943 single base substitution A T upstream_gene_variant SKCM-US 2 48066045 48066045 single base substitution A G exon_variant SKCM-US 2 48066045 48066045 single base substitution A G synonymous_variant A180A 540T>C SKCM-US 2 48066045 48066045 single base substitution A G synonymous_variant A62A 186T>C SKCM-US 2 48066045 48066045 single base substitution A G synonymous_variant A96A 288T>C SKCM-US 2 48066045 48066045 single base substitution A G upstream_gene_variant SKCM-US 2 48066079 48066079 single base substitution G A exon_variant SKCM-US 2 48066079 48066079 single base substitution G A missense_variant S169F 506C>T SKCM-US 2 48066079 48066079 single base substitution G A missense_variant S51F 152C>T SKCM-US 2 48066079 48066079 single base substitution G A missense_variant S85F 254C>T SKCM-US 2 48066079 48066079 single base substitution G A upstream_gene_variant SKCM-US 2 48066818 48066818 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 2 48066818 48066818 single base substitution G A exon_variant SKCM-US 2 48066818 48066818 single base substitution G A missense_variant P108L 323C>T SKCM-US 2 48066818 48066818 single base substitution G A missense_variant P24L 71C>T SKCM-US 2 48066818 48066818 single base substitution G A upstream_gene_variant STAD-US 2 48018188 48018188 single base substitution G A intron_variant STAD-US 2 48023188 48023190 deletion of <=200bp GAA - intron_variant STAD-US 2 48025928 48025928 single base substitution C G intron_variant STAD-US 2 48025978 48025978 single base substitution G A intron_variant STAD-US 2 48026079 48026079 single base substitution G A intron_variant STAD-US 2 48026138 48026138 single base substitution C A intron_variant STAD-US 2 48026311 48026311 single base substitution T C intron_variant STAD-US 2 48026471 48026471 single base substitution T C intron_variant STAD-US 2 48026560 48026560 single base substitution G C intron_variant STAD-US 2 48027059 48027059 single base substitution A G intron_variant STAD-US 2 48027122 48027122 single base substitution A T intron_variant STAD-US 2 48027725 48027725 single base substitution T C intron_variant STAD-US 2 48028049 48028049 single base substitution G A intron_variant STAD-US 2 48028150 48028150 single base substitution A G intron_variant STAD-US 2 48028272 48028272 insertion of <=200bp - TGTAG intron_variant STAD-US 2 48030640 48030640 insertion of <=200bp - CC downstream_gene_variant STAD-US 2 48030640 48030640 insertion of <=200bp - CC intron_variant STAD-US 2 48030640 48030640 insertion of <=200bp - C downstream_gene_variant STAD-US 2 48030640 48030640 insertion of <=200bp - C intron_variant STAD-US 2 48035303 48035303 single base substitution T C downstream_gene_variant STAD-US 2 48035303 48035303 single base substitution T C exon_variant STAD-US 2 48035303 48035303 single base substitution T C intron_variant STAD-US 2 48035303 48035303 single base substitution T C missense_variant Y337C 1010A>G STAD-US 2 48035303 48035303 single base substitution T C missense_variant Y829C 2486A>G STAD-US 2 48035303 48035303 single base substitution T C missense_variant Y913C 2738A>G STAD-US 2 48035330 48035330 single base substitution T C downstream_gene_variant STAD-US 2 48035330 48035330 single base substitution T C exon_variant STAD-US 2 48035330 48035330 single base substitution T C missense_variant E328G 983A>G STAD-US 2 48035330 48035330 single base substitution T C missense_variant E820G 2459A>G STAD-US 2 48035330 48035330 single base substitution T C missense_variant E904G 2711A>G STAD-US 2 48035330 48035330 single base substitution T C splice_region_variant STAD-US 2 48035360 48035360 single base substitution G A downstream_gene_variant STAD-US 2 48035360 48035360 single base substitution G A exon_variant STAD-US 2 48035360 48035360 single base substitution G A missense_variant T318I 953C>T STAD-US 2 48035360 48035360 single base substitution G A missense_variant T48I 143C>T STAD-US 2 48035360 48035360 single base substitution G A missense_variant T810I 2429C>T STAD-US 2 48035360 48035360 single base substitution G A missense_variant T894I 2681C>T STAD-US 2 48045997 48045997 single base substitution C T exon_variant STAD-US 2 48045997 48045997 single base substitution C T missense_variant V434I 1300G>A STAD-US 2 48045997 48045997 single base substitution C T missense_variant V559I 1675G>A STAD-US 2 48045997 48045997 single base substitution C T missense_variant V643I 1927G>A STAD-US 2 48045997 48045997 single base substitution C T missense_variant V67I 199G>A STAD-US 2 48045997 48045997 single base substitution C T upstream_gene_variant STAD-US 2 48046138 48046138 single base substitution C T exon_variant STAD-US 2 48046138 48046138 single base substitution C T missense_variant S417N 1250G>A STAD-US 2 48046138 48046138 single base substitution C T missense_variant S50N 149G>A STAD-US 2 48046138 48046138 single base substitution C T missense_variant S542N 1625G>A STAD-US 2 48046138 48046138 single base substitution C T missense_variant S626N 1877G>A STAD-US 2 48046138 48046138 single base substitution C T upstream_gene_variant STAD-US 2 48046210 48046210 single base substitution T C exon_variant STAD-US 2 48046210 48046210 single base substitution T C missense_variant K26R 77A>G STAD-US 2 48046210 48046210 single base substitution T C missense_variant K393R 1178A>G STAD-US 2 48046210 48046210 single base substitution T C missense_variant K518R 1553A>G STAD-US 2 48046210 48046210 single base substitution T C missense_variant K602R 1805A>G STAD-US 2 48046210 48046210 single base substitution T C upstream_gene_variant STAD-US 2 48049367 48049367 single base substitution A G exon_variant STAD-US 2 48049367 48049367 single base substitution A G missense_variant M20T 59T>C STAD-US 2 48049367 48049367 single base substitution A G synonymous_variant N355N 1065T>C STAD-US 2 48049367 48049367 single base substitution A G synonymous_variant N480N 1440T>C STAD-US 2 48049367 48049367 single base substitution A G synonymous_variant N564N 1692T>C STAD-US 2 48050315 48050315 single base substitution A G 5_prime_UTR_variant STAD-US 2 48050315 48050315 single base substitution A G exon_variant STAD-US 2 48050315 48050315 single base substitution A G missense_variant V319A 956T>C STAD-US 2 48050315 48050315 single base substitution A G missense_variant V444A 1331T>C STAD-US 2 48050315 48050315 single base substitution A G missense_variant V528A 1583T>C STAD-US 2 48050427 48050427 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 2 48050427 48050427 single base substitution T C exon_variant STAD-US 2 48050427 48050427 single base substitution T C missense_variant T282A 844A>G STAD-US 2 48050427 48050427 single base substitution T C missense_variant T407A 1219A>G STAD-US 2 48050427 48050427 single base substitution T C missense_variant T491A 1471A>G STAD-US 2 48059584 48059584 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 2 48059584 48059584 insertion of <=200bp - G downstream_gene_variant STAD-US 2 48059584 48059584 insertion of <=200bp - G exon_variant STAD-US 2 48059584 48059584 insertion of <=200bp - G frameshift_variant A225A? STAD-US 2 48059584 48059584 insertion of <=200bp - G frameshift_variant A350A? STAD-US 2 48059584 48059584 insertion of <=200bp - G frameshift_variant A434A? STAD-US 2 48059585 48059585 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 2 48059585 48059585 insertion of <=200bp - G downstream_gene_variant STAD-US 2 48059585 48059585 insertion of <=200bp - G exon_variant STAD-US 2 48059585 48059585 insertion of <=200bp - G frameshift_variant A225A? STAD-US 2 48059585 48059585 insertion of <=200bp - G frameshift_variant A350A? STAD-US 2 48059585 48059585 insertion of <=200bp - G frameshift_variant A434A? STAD-US 2 48063100 48063100 single base substitution T C downstream_gene_variant STAD-US 2 48063100 48063100 single base substitution T C exon_variant STAD-US 2 48063100 48063100 single base substitution T C missense_variant M126V 376A>G STAD-US 2 48063100 48063100 single base substitution T C missense_variant M210V 628A>G STAD-US 2 48063100 48063100 single base substitution T C start_lost M1V 1A>G STAD-US 2 48063100 48063100 single base substitution T C upstream_gene_variant STAD-US 2 48066614 48066614 single base substitution T C exon_variant STAD-US 2 48066614 48066614 single base substitution T C missense_variant N11S 32A>G STAD-US 2 48066614 48066614 single base substitution T C missense_variant N129S 386A>G STAD-US 2 48066614 48066614 single base substitution T C missense_variant N45S 134A>G STAD-US 2 48066614 48066614 single base substitution T C upstream_gene_variant STAD-US 2 48066832 48066832 single base substitution T C 5_prime_UTR_variant STAD-US 2 48066832 48066832 single base substitution T C exon_variant STAD-US 2 48066832 48066832 single base substitution T C synonymous_variant R103R 309A>G STAD-US 2 48066832 48066832 single base substitution T C synonymous_variant R19R 57A>G STAD-US 2 48066832 48066832 single base substitution T C upstream_gene_variant THCA-US 2 48040983 48040983 single base substitution C G downstream_gene_variant THCA-US 2 48040983 48040983 single base substitution C G exon_variant THCA-US 2 48040983 48040983 single base substitution C G missense_variant R101T 302G>C THCA-US 2 48040983 48040983 single base substitution C G missense_variant R468T 1403G>C THCA-US 2 48040983 48040983 single base substitution C G missense_variant R593T 1778G>C THCA-US 2 48040983 48040983 single base substitution C G missense_variant R677T 2030G>C THCA-US 2 48040983 48040983 single base substitution C G upstream_gene_variant THCA-US 2 48066036 48066036 single base substitution A G exon_variant THCA-US 2 48066036 48066036 single base substitution A G synonymous_variant C183C 549T>C THCA-US 2 48066036 48066036 single base substitution A G synonymous_variant C65C 195T>C THCA-US 2 48066036 48066036 single base substitution A G synonymous_variant C99C 297T>C THCA-US 2 48066036 48066036 single base substitution A G upstream_gene_variant THCA-US 2 48066119 48066119 single base substitution G A exon_variant THCA-US 2 48066119 48066119 single base substitution G A stop_gained Q156* 466C>T THCA-US 2 48066119 48066119 single base substitution G A stop_gained Q38* 112C>T THCA-US 2 48066119 48066119 single base substitution G A stop_gained Q72* 214C>T THCA-US 2 48066119 48066119 single base substitution G A upstream_gene_variant UCEC-US 2 48018102 48018102 single base substitution G T intron_variant UCEC-US 2 48023108 48023108 single base substitution G A intron_variant UCEC-US 2 48025792 48025792 single base substitution G T intron_variant UCEC-US 2 48026079 48026079 single base substitution G A intron_variant UCEC-US 2 48026126 48026127 deletion of <=200bp AT - intron_variant UCEC-US 2 48026240 48026240 single base substitution T C intron_variant UCEC-US 2 48026290 48026290 single base substitution G A intron_variant UCEC-US 2 48026567 48026567 single base substitution G A intron_variant UCEC-US 2 48026707 48026707 single base substitution G T intron_variant UCEC-US 2 48027043 48027043 single base substitution G T intron_variant UCEC-US 2 48027370 48027370 single base substitution A C intron_variant UCEC-US 2 48027811 48027811 single base substitution A C intron_variant UCEC-US 2 48027844 48027844 single base substitution G T intron_variant UCEC-US 2 48027952 48027952 single base substitution A G intron_variant UCEC-US 2 48027958 48027958 single base substitution G T intron_variant UCEC-US 2 48027998 48027998 single base substitution G A intron_variant UCEC-US 2 48028001 48028001 single base substitution A C intron_variant UCEC-US 2 48028049 48028049 single base substitution G A intron_variant UCEC-US 2 48028161 48028161 single base substitution G T intron_variant UCEC-US 2 48028205 48028205 single base substitution C T intron_variant UCEC-US 2 48028263 48028263 single base substitution G A intron_variant UCEC-US 2 48030613 48030613 single base substitution G A downstream_gene_variant UCEC-US 2 48030613 48030613 single base substitution G A intron_variant UCEC-US 2 48030686 48030686 single base substitution G A downstream_gene_variant UCEC-US 2 48030686 48030686 single base substitution G A intron_variant UCEC-US 2 48030689 48030689 single base substitution G T downstream_gene_variant UCEC-US 2 48030689 48030689 single base substitution G T intron_variant UCEC-US 2 48032786 48032786 single base substitution G T downstream_gene_variant UCEC-US 2 48032786 48032786 single base substitution G T intron_variant UCEC-US 2 48033396 48033396 single base substitution G T downstream_gene_variant UCEC-US 2 48033396 48033396 single base substitution G T intron_variant UCEC-US 2 48033408 48033408 single base substitution A G downstream_gene_variant UCEC-US 2 48033408 48033408 single base substitution A G intron_variant UCEC-US 2 48033455 48033457 deletion of <=200bp AGA - downstream_gene_variant UCEC-US 2 48033455 48033457 deletion of <=200bp AGA - intron_variant UCEC-US 2 48033641 48033641 single base substitution G A downstream_gene_variant UCEC-US 2 48033641 48033641 single base substitution G A intron_variant UCEC-US 2 48033685 48033685 single base substitution G A downstream_gene_variant UCEC-US 2 48033685 48033685 single base substitution G A intron_variant UCEC-US 2 48033753 48033753 single base substitution G T downstream_gene_variant UCEC-US 2 48033753 48033753 single base substitution G T intron_variant UCEC-US 2 48033781 48033781 single base substitution G A downstream_gene_variant UCEC-US 2 48033781 48033781 single base substitution G A intron_variant UCEC-US 2 48035337 48035337 single base substitution C A downstream_gene_variant UCEC-US 2 48035337 48035337 single base substitution C A exon_variant UCEC-US 2 48035337 48035337 single base substitution C A missense_variant A326S 976G>T UCEC-US 2 48035337 48035337 single base substitution C A missense_variant A56S 166G>T UCEC-US 2 48035337 48035337 single base substitution C A missense_variant A818S 2452G>T UCEC-US 2 48035337 48035337 single base substitution C A missense_variant A902S 2704G>T UCEC-US 2 48035348 48035348 single base substitution G T downstream_gene_variant UCEC-US 2 48035348 48035348 single base substitution G T exon_variant UCEC-US 2 48035348 48035348 single base substitution G T missense_variant P322H 965C>A UCEC-US 2 48035348 48035348 single base substitution G T missense_variant P52H 155C>A UCEC-US 2 48035348 48035348 single base substitution G T missense_variant P814H 2441C>A UCEC-US 2 48035348 48035348 single base substitution G T missense_variant P898H 2693C>A UCEC-US 2 48036378 48036378 single base substitution G T 5_prime_UTR_variant UCEC-US 2 48036378 48036378 single base substitution G T downstream_gene_variant UCEC-US 2 48036378 48036378 single base substitution G T exon_variant UCEC-US 2 48036378 48036378 single base substitution G T missense_variant A249D 746C>A UCEC-US 2 48036378 48036378 single base substitution G T missense_variant A741D 2222C>A UCEC-US 2 48036378 48036378 single base substitution G T missense_variant A825D 2474C>A UCEC-US 2 48036378 48036378 single base substitution G T upstream_gene_variant UCEC-US 2 48036770 48036770 single base substitution A T downstream_gene_variant UCEC-US 2 48036770 48036770 single base substitution A T exon_variant UCEC-US 2 48036770 48036770 single base substitution A T missense_variant F229L 687T>A UCEC-US 2 48036770 48036770 single base substitution A T missense_variant F721L 2163T>A UCEC-US 2 48036770 48036770 single base substitution A T missense_variant F805L 2415T>A UCEC-US 2 48036770 48036770 single base substitution A T upstream_gene_variant UCEC-US 2 48045990 48045990 single base substitution A C exon_variant UCEC-US 2 48045990 48045990 single base substitution A C missense_variant F436C 1307T>G UCEC-US 2 48045990 48045990 single base substitution A C missense_variant F561C 1682T>G UCEC-US 2 48045990 48045990 single base substitution A C missense_variant F645C 1934T>G UCEC-US 2 48045990 48045990 single base substitution A C missense_variant F69C 206T>G UCEC-US 2 48045990 48045990 single base substitution A C upstream_gene_variant UCEC-US 2 48060162 48060162 single base substitution A C downstream_gene_variant UCEC-US 2 48060162 48060162 single base substitution A C exon_variant UCEC-US 2 48060162 48060162 single base substitution A C missense_variant S119A 355T>G UCEC-US 2 48060162 48060162 single base substitution A C missense_variant S244A 730T>G UCEC-US 2 48060162 48060162 single base substitution A C missense_variant S328A 982T>G UCEC-US 2 48060162 48060162 single base substitution A C upstream_gene_variant UCEC-US 2 48063064 48063064 single base substitution T C downstream_gene_variant UCEC-US 2 48063064 48063064 single base substitution T C exon_variant UCEC-US 2 48063064 48063064 single base substitution T C missense_variant N138D 412A>G UCEC-US 2 48063064 48063064 single base substitution T C missense_variant N13D 37A>G UCEC-US 2 48063064 48063064 single base substitution T C missense_variant N222D 664A>G UCEC-US 2 48063064 48063064 single base substitution T C upstream_gene_variant UCEC-US 2 48066602 48066602 single base substitution C G exon_variant UCEC-US 2 48066602 48066602 single base substitution C G missense_variant R133P 398G>C UCEC-US 2 48066602 48066602 single base substitution C G missense_variant R15P 44G>C UCEC-US 2 48066602 48066602 single base substitution C G missense_variant R49P 146G>C UCEC-US 2 48066602 48066602 single base substitution C G upstream_gene_variant UCEC-US 2 48066805 48066805 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 2 48066805 48066805 single base substitution C T exon_variant UCEC-US 2 48066805 48066805 single base substitution C T synonymous_variant A112A 336G>A UCEC-US 2 48066805 48066805 single base substitution C T synonymous_variant A28A 84G>A UCEC-US 2 48066805 48066805 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK054_C01 COSM1632024 c.2180A>C p.N727T Substitution - Missense 2:47809614-47809614 - 409 COSM4430735 c.2481_2482delAC p.L828fs*2 Deletion - Frameshift 2:47808168-47808169 - PT33 COSM3380270 c.357G>A p.M119I Substitution - Missense 2:47839645-47839645 - TCGA-AD-6895-01 COSM1408335 c.659A>G p.Q220R Substitution - Missense 2:47835930-47835930 - LP6005500-DNA_B01 COSM4410141 c.1702G>C p.V568L Substitution - Missense 2:47818831-47818831 - TCGA-ER-A19P-06 COSM3581885 c.2339-1G>C p.? Unknown 2:47809708-47809708 - T3502 COSM4683915 c.2263A>G p.I755V Substitution - Missense 2:47809198-47809198 - BN13T COSM1614886 c.1399-9A>G p.? Unknown 2:47823369-47823369 - TCGA-AG-3892-01 COSM256941 c.2298C>A p.F766L Substitution - Missense 2:47809163-47809163 - HN_62417 COSM123118 c.2476G>T p.D826Y Substitution - Missense 2:47808174-47808174 - 2276229 COSM4389220 c.365A>G p.Y122C Substitution - Missense 2:47835972-47835972 - 062T COSM1730130 c.2304A>C p.L768F Substitution - Missense 2:47810350-47810350 - BRC11 COSM5025625 c.308G>T p.S103I Substitution - Missense 2:47838886-47838886 - ESCC_5 COSM5649621 c.2470_2471insT p.D824fs*7 Insertion - Frameshift 2:47808179-47808180 - 11_tFL COSM4171173 c.2668T>G p.C890G Substitution - Missense 2:47808234-47808234 - ESCC_76 COSM5635161 c.2267C>T p.S756L Substitution - Missense 2:47809194-47809194 - 4 COSM3734903 c.1587G>C p.W529C Substitution - Missense 2:47823172-47823172 - BCM617T COSM4955997 c.871G>T p.D291Y Substitution - Missense 2:47832799-47832799 - LS180 COSM3186119 c.719delA p.N240fs*21 Deletion - Frameshift 2:47833034-47833034 - AA COSM5414687 c.2045C>G p.P682R Substitution - Missense 2:47810357-47810357 - TCGA-BR-6852-01 COSM4094460 c.309A>G p.R103R Substitution - coding silent 2:47839693-47839693 - 10_tFL COSM4171177 c.718-2A>C p.? Unknown 2:47834873-47834873 - TCGA-AX-A060-01 COSM4875350 c.336G>A p.A112A Substitution - coding silent 2:47839666-47839666 - 587376 COSM1206794 c.622C>T p.R208C Substitution - Missense 2:47835967-47835967 - tumor_4190495 COSM5948603 c.1760A>G p.N587S Substitution - Missense 2:47820399-47820399 - SNUH_G17_S1 COSM3682659 c.1927G>T p.V643F Substitution - Missense 2:47818858-47818858 - TCGA-18-3416-01 COSM721725 c.1829C>T p.S610F Substitution - Missense 2:47813793-47813793 - HCC70 COSM1614889 c.904G>A p.G302S Substitution - Missense 2:47832676-47832676 - ccRCC-41 COSM1661818 c.328A>G p.I110V Substitution - Missense 2:47838866-47838866 - RMS112_ COSM4987647 c.146C>A p.P49Q Substitution - Missense 2:47905575-47905575 - ESCC_11 COSM5624432 c.1648C>G p.R550G Substitution - Missense 2:47818976-47818976 - T2931 COSM4683916 c.2000A>C p.Q667P Substitution - Missense 2:47818785-47818785 - TCGA-CD-A4MG-01 COSM4094454 c.1331T>C p.V444A Substitution - Missense 2:47823176-47823176 - RK212_C01 COSM3743814 c.2741A>G p.D914G Substitution - Missense 2:47808161-47808161 - TCGA-60-2698-01 COSM4860764 c.1093G>A p.E365K Substitution - Missense 2:47832829-47832829 - HCC134T COSM3709677 c.808T>G p.S270A Substitution - Missense 2:47832862-47832862 - D-07 COSM4766531 c.1577C>A p.A526E Substitution - Missense 2:47823182-47823182 - D-07 COSM4766532 c.1325C>A p.A442E Substitution - Missense 2:47823182-47823182 - YUKAT COSM5397079 c.2420G>A p.G807D Substitution - Missense 2:47808230-47808230 - 2276229 COSM4389221 c.1996_2027del32 p.I666fs*3 Deletion - Frameshift 2:47810375-47810406 - TCGA-BR-6452-01 COSM4094445 c.1927G>A p.V643I Substitution - Missense 2:47818858-47818858 - HCC134T COSM3709676 c.1060T>G p.S354A Substitution - Missense 2:47832862-47832862 - LS174T COSM3186119 c.719delA p.N240fs*21 Deletion - Frameshift 2:47833034-47833034 - TCGA-DI-A0WH-01 COSM1021327 c.363A>G p.E121E Substitution - coding silent 2:47835974-47835974 - TCGA-AB-2806-03 COSM1318900 c.2178_2179insTC p.N727fs*3 Insertion - Frameshift 2:47809615-47809616 - PCSI_0077_Pa_P_526 COSM3380271 c.105G>A p.M35I Substitution - Missense 2:47839645-47839645 - 477 COSM4438788 c.871G>C p.D291H Substitution - Missense 2:47832799-47832799 - ESCC-F50 COSM5047912 c.2740_2741insT p.D914fs*9 Insertion - Frameshift 2:47808161-47808162 - H384 COSM5044012 c.1726A>C p.N576H Substitution - Missense 2:47818807-47818807 - LS411 COSM3186117 c.873T>A p.D291E Substitution - Missense 2:47832797-47832797 - TCGA-EJ-5498-01 COSM1130772 c.1044G>A p.A348A Substitution - coding silent 2:47832451-47832451 - RK26-R11 COSM4411073 c.161G>C p.R54T Substitution - Missense 2:47839448-47839448 - ESO-0013 COSM1252249 c.1535G>A p.G512E Substitution - Missense 2:47820372-47820372 - ESCC_169 COSM5648929 c.1366G>A p.D456N Substitution - Missense 2:47832381-47832381 - TCGA-AD-6895-01 COSM1408336 c.407A>G p.Q136R Substitution - Missense 2:47835930-47835930 - ESO-859 COSM1238874 c.1422A>G p.I474M Substitution - Missense 2:47823337-47823337 - AOCS-166-1-2 COSM4141128 c.149A>C p.Q50P Substitution - Missense 2:47905572-47905572 - BL2 COSM4777466 c.2037_2038delTA p.N679fs*12 Deletion - Frameshift 2:47810364-47810365 - 34T COSM3714287 c.2054G>T p.R685M Substitution - Missense 2:47810348-47810348 - LUAD-NYU847 COSM376721 c.901G>T p.V301F Substitution - Missense 2:47832769-47832769 - RK159_C01 COSM1632020 c.2509T>G p.S837A Substitution - Missense 2:47808141-47808141 - ESO-0059 COSM1252251 c.241C>A p.L81I Substitution - Missense 2:47838953-47838953 - TCGA-CM-6162-01 COSM1408325 c.1995G>T p.G665G Substitution - coding silent 2:47818790-47818790 - GHE0624 COSM5713471 c.1171_1172delGT p.V391fs*1 Deletion - Frameshift 2:47832660-47832661 - 587336 COSM1206792 c.2398C>T p.R800W Substitution - Missense 2:47809648-47809648 - 34T COSM3714286 c.2306G>T p.R769M Substitution - Missense 2:47810348-47810348 - TCGA-09-1675-01 COSM1327057 c.755A>G p.H252R Substitution - Missense 2:47834834-47834834 - TCGA-BR-7715-01 COSM4094443 c.2681C>T p.T894I Substitution - Missense 2:47808221-47808221 - TCGA-AX-A05Z-01 COSM1592213 c.2704G>T p.A902S Substitution - Missense 2:47808198-47808198 - TCGA-EE-A2MR-06 COSM3581891 c.323C>T p.P108L Substitution - Missense 2:47839679-47839679 - 2276244 COSM4389222 c.1799G>A p.G600E Substitution - Missense 2:47813823-47813823 - ESO-0059 COSM1252250 c.493C>A p.L165I Substitution - Missense 2:47838953-47838953 - ZZUFHECRKL-G056T COSM5413633 c.1669-10delT p.? Unknown 2:47818874-47818874 - 4 COSM3734904 c.1335G>C p.W445C Substitution - Missense 2:47823172-47823172 - LN229 COSM3186065 c.2002A>T p.R668W Substitution - Missense 2:47810400-47810400 - HCC071T COSM5821656 c.1780C>T p.R594C Substitution - Missense 2:47813842-47813842 - TCGA-AR-A1AM-01 COSM3839616 c.1425C>A p.H475Q Substitution - Missense 2:47823334-47823334 - CHC1152T COSM4791232 c.2025C>T p.L675L Substitution - coding silent 2:47810377-47810377 - ESCC_11 COSM5624431 c.1900C>G p.R634G Substitution - Missense 2:47818976-47818976 - tumor_4119027 COSM1161357 c.2037_2039TAG>G p.N679fs*12 Complex - frameshift 2:47810363-47810365 - 4 COSM4169971 c.1715C>A p.A572E Substitution - Missense 2:47820444-47820444 - 2296_T COSM3962875 c.2502T>G p.P834P Substitution - coding silent 2:47808148-47808148 - LS180 COSM3186111 c.1295C>T p.A432V Substitution - Missense 2:47832452-47832452 - TCGA-DC-4749-01 COSM3426492 c.301C>T p.R101C Substitution - Missense 2:47838893-47838893 - LUAD-NYU1051S COSM368737 c.2367T>A p.H789Q Substitution - Missense 2:47808364-47808364 - PD22366a COSM5792971 c.2132G>C p.G711A Substitution - Missense 2:47813329-47813329 - ESCC_127 COSM5641512 c.795C>T p.N265N Substitution - coding silent 2:47832875-47832875 - H384 COSM5044011 c.1978A>C p.N660H Substitution - Missense 2:47818807-47818807 - TCGA-FK-A3SD-01 COSM3372802 c.214C>T p.Q72* Substitution - Nonsense 2:47838980-47838980 - 10_tFL COSM4171178 c.466-2A>C p.? Unknown 2:47834873-47834873 - TCGA-D9-A6EC-06 COSM4400439 c.288T>C p.A96A Substitution - coding silent 2:47838906-47838906 - tumor_4190495 COSM1161358 c.1832-2A>G p.? Unknown 2:47813379-47813379 - ESCC_5 COSM5649620 c.2722_2723insT p.D908fs*7 Insertion - Frameshift 2:47808179-47808180 - SNUH_G64_S1 COSM3682657 c.1931A>G p.Y644C Substitution - Missense 2:47818854-47818854 - TCGA-F5-6814-01 COSM3426489 c.1877G>T p.S626I Substitution - Missense 2:47818999-47818999 - 2296_T COSM3962874 c.2754T>G p.P918P Substitution - coding silent 2:47808148-47808148 - ESCC_81 COSM5635918 c.719A>G p.Y240C Substitution - Missense 2:47834870-47834870 - LS411 COSM3186116 c.1125T>A p.D375E Substitution - Missense 2:47832797-47832797 - TCGA-FK-A3SD-01 COSM3372801 c.466C>T p.Q156* Substitution - Nonsense 2:47838980-47838980 - TCGA-BR-4362-01 COSM4094449 c.1805A>G p.K602R Substitution - Missense 2:47819071-47819071 - TCGA-EE-A3JD-06 COSM4393992 c.1118T>A p.I373N Substitution - Missense 2:47832804-47832804 - HCC70T COSM1614889 c.904G>A p.G302S Substitution - Missense 2:47832676-47832676 - TCGA-G4-6304-01 COSM1408337 c.620C>T p.T207I Substitution - Missense 2:47835969-47835969 - HX37T COSM3709673 c.1731T>C p.H577H Substitution - coding silent 2:47818802-47818802 - HCC70 COSM1614888 c.1156G>A p.G386S Substitution - Missense 2:47832676-47832676 - LC_C36 COSM1190996 c.146_147insGCAGCAGCA p.Q56_P57insQQQ Insertion - In frame 2:47905574-47905575 - 11_tFL COSM4171174 c.2416T>G p.C806G Substitution - Missense 2:47808234-47808234 - BHY COSM3186133 c.229G>A p.D77N Substitution - Missense 2:47838965-47838965 - ESCC_100 COSM5047913 c.2488_2489insT p.D830fs*9 Insertion - Frameshift 2:47808161-47808162 - TCGA-21-1070-01 COSM721721 c.35A>G p.N12S Substitution - Missense 2:47839715-47839715 - tumor_4178345 COSM3186082 c.2084-2A>G p.? Unknown 2:47813379-47813379 - HRA19 COSM4637893 c.2241A>G p.E747E Substitution - coding silent 2:47810413-47810413 - SNU-175 COSM3186054 c.2588C>T p.A863V Substitution - Missense 2:47808395-47808395 - tumor_4190495 COSM5948604 c.1508A>G p.N503S Substitution - Missense 2:47820399-47820399 - TCGA-EE-A20C-06 COSM3581883 c.2450A>T p.N817I Substitution - Missense 2:47809263-47809263 - ESCC-F50 COSM5047913 c.2488_2489insT p.D830fs*9 Insertion - Frameshift 2:47808161-47808162 - KYSE-450 COSM3186135 c.199G>T p.A67S Substitution - Missense 2:47838995-47838995 - AA COSM5414686 c.2297C>G p.P766R Substitution - Missense 2:47810357-47810357 - TCGA-BR-6452-01 COSM4094459 c.134A>G p.N45S Substitution - Missense 2:47839475-47839475 - TCGA-CG-5733-01 COSM4094441 c.2711A>G p.E904G Substitution - Missense 2:47808191-47808191 - 3006_T COSM3372800 c.297T>C p.C99C Substitution - coding silent 2:47838897-47838897 - T2931 COSM4683917 c.1748A>C p.Q583P Substitution - Missense 2:47818785-47818785 - TCGA-MH-A561-01 COSM3991336 c.2063G>A p.G688E Substitution - Missense 2:47813811-47813811 - SNU-175 COSM3186055 c.2336C>T p.A779V Substitution - Missense 2:47808395-47808395 - BN13T COSM1614887 c.1147-9A>G p.? Unknown 2:47823369-47823369 - ASHPC_0002_Pa_P_4 COSM3782207 c.1669-10T>A p.? Unknown 2:47818874-47818874 - Patient_3 COSM5413633 c.1669-10delT p.? Unknown 2:47818874-47818874 - BD212T COSM5501417 c.442+9T>A p.? Unknown 2:47839410-47839410 - MHH-PREB-1 COSM4422828 c.1_2532del2532 p.0? Whole gene deletion TCGA-EE-A3JD-06 COSM4393993 c.866T>A p.I289N Substitution - Missense 2:47832804-47832804 - LS174T COSM3186111 c.1295C>T p.A432V Substitution - Missense 2:47832452-47832452 - TCGA-BR-6452-01 COSM4094458 c.386A>G p.N129S Substitution - Missense 2:47839475-47839475 - ESCC_42 COSM5629703 c.1110T>C p.C370C Substitution - coding silent 2:47832812-47832812 - ESO-887 COSM1252253 c.1748A>T p.Q583L Substitution - Missense 2:47818785-47818785 - ESCC_84 COSM5649621 c.2470_2471insT p.D824fs*7 Insertion - Frameshift 2:47808179-47808180 - tumor_4119027 COSM1161361 c.112C>T p.Q38* Substitution - Nonsense 2:47905609-47905609 - BCM617T COSM4955997 c.871G>T p.D291Y Substitution - Missense 2:47832799-47832799 - PCSI_0077_Pa_X COSM3380270 c.357G>A p.M119I Substitution - Missense 2:47839645-47839645 - TCGA-AX-A060-01 COSM1592207 c.664A>G p.N222D Substitution - Missense 2:47835925-47835925 - TCGA-BR-7715-01 COSM4094444 c.2429C>T p.T810I Substitution - Missense 2:47808221-47808221 - CHC1152T COSM4791231 c.2277C>T p.L759L Substitution - coding silent 2:47810377-47810377 - HCC70T COSM1614888 c.1156G>A p.G386S Substitution - Missense 2:47832676-47832676 - NCI-H720 COSM3186087 c.1867A>T p.T623S Substitution - Missense 2:47819009-47819009 - Patient_3 COSM5413632 c.1921-10delT p.? Unknown 2:47818874-47818874 - LS180 COSM3186118 c.971delA p.N324fs*21 Deletion - Frameshift 2:47833034-47833034 - S00936 COSM311126 c.111C>T p.G37G Substitution - coding silent 2:47839498-47839498 - YUDAB COSM1690547 c.2071G>C p.D691H Substitution - Missense 2:47810331-47810331 - TCGA-D9-A6EC-06 COSM4400438 c.540T>C p.A180A Substitution - coding silent 2:47838906-47838906 - BK0047D COSM4187799 c.1975+2T>C p.? Unknown 2:47813232-47813232 - TCGA-BR-6452-01 COSM4094451 c.1692T>C p.N564N Substitution - coding silent 2:47822228-47822228 - sysucc-1163T COSM3782207 c.1669-10T>A p.? Unknown 2:47818874-47818874 - TCGA-60-2719-01 COSM77709 c.2338A>G p.I780V Substitution - Missense 2:47808393-47808393 - TCGA-18-3417-01 COSM4859461 c.1096A>T p.I366F Substitution - Missense 2:47832826-47832826 - KYSE450 COSM3186134 c.451G>T p.A151S Substitution - Missense 2:47838995-47838995 - HCC2998 COSM1668901 c.2639T>G p.F880C Substitution - Missense 2:47808344-47808344 - TCGA-EE-A2ML-06 COSM3581889 c.1464T>C p.A488A Substitution - coding silent 2:47823295-47823295 - TCGA-AB-2806-03 COSM1318899 c.2430_2431insTC p.N811fs*3 Insertion - Frameshift 2:47809615-47809616 - 409 COSM4430734 c.2733_2734delAC p.L912fs*2 Deletion - Frameshift 2:47808168-47808169 - ESCC_169 COSM5648930 c.1114G>A p.D372N Substitution - Missense 2:47832381-47832381 - tumor_4178345 COSM1161358 c.1832-2A>G p.? Unknown 2:47813379-47813379 - TCGA-AA-3667-01 COSM292692 c.1595C>G p.T532S Substitution - Missense 2:47819029-47819029 - TCGA-EE-A29Q-06 COSM3581888 c.1493C>T p.P498L Substitution - Missense 2:47820414-47820414 - HCC2998 COSM1668902 c.2387T>G p.F796C Substitution - Missense 2:47808344-47808344 - 2276309 COSM4389224 c.1893G>C p.K631N Substitution - Missense 2:47813316-47813316 - TCGA-AP-A0LM-01 COSM1021321 c.2441C>A p.P814H Substitution - Missense 2:47808209-47808209 - NB07C COSM1236432 c.56G>T p.R19I Substitution - Missense 2:47839694-47839694 - TCGA-EL-A4K6-01 COSM3372799 c.549T>C p.C183C Substitution - coding silent 2:47838897-47838897 - ESCC-F71 COSM5048371 c.952C>A p.H318N Substitution - Missense 2:47832628-47832628 - ESCC-F71 COSM5048370 c.1204C>A p.H402N Substitution - Missense 2:47832628-47832628 - SNU-175 COSM3186060 c.2391delT p.F797fs*10 Deletion - Frameshift 2:47809655-47809655 - YUKAT COSM5397078 c.2672G>A p.G891D Substitution - Missense 2:47808230-47808230 - H COSM5414687 c.2045C>G p.P682R Substitution - Missense 2:47810357-47810357 - TCGA-F5-6814-01 COSM3426490 c.1625G>T p.S542I Substitution - Missense 2:47818999-47818999 - TCGA-DA-A1IA-06 COSM1690549 c.254C>T p.S85F Substitution - Missense 2:47838940-47838940 - pfg008T COSM1641928 c.1976-2A>G p.? Unknown 2:47810428-47810428 - HCC134 COSM3709675 c.809C>A p.S270Y Substitution - Missense 2:47832861-47832861 - tumor_4120193 COSM3953050 c.1975G>A p.G659S Substitution - Missense 2:47813234-47813234 - BL1 COSM1161356 c.2096T>A p.I699N Substitution - Missense 2:47809698-47809698 - tumor_4125240 COSM4777472 c.1958T>C p.L653P Substitution - Missense 2:47818827-47818827 - 3006_T COSM3372799 c.549T>C p.C183C Substitution - coding silent 2:47838897-47838897 - ATL020 COSM5708239 c.1169T>C p.I390T Substitution - Missense 2:47823338-47823338 - OSCC-GB_00340111 COSM3714287 c.2054G>T p.R685M Substitution - Missense 2:47810348-47810348 - TCGA-EK-A2RJ-01 COSM4832181 c.2192G>C p.R731T Substitution - Missense 2:47813269-47813269 - HCC134 COSM3709674 c.1061C>A p.S354Y Substitution - Missense 2:47832861-47832861 - AB COSM5414686 c.2297C>G p.P766R Substitution - Missense 2:47810357-47810357 - TCGA-CJ-4916-01 COSM4858325 c.524A>G p.D175G Substitution - Missense 2:47838922-47838922 - TCGA-CD-A4MG-01 COSM4094453 c.1583T>C p.V528A Substitution - Missense 2:47823176-47823176 - KYSE-450 COSM3186134 c.451G>T p.A151S Substitution - Missense 2:47838995-47838995 - RK133_C01 COSM1632022 c.2472T>C p.D824D Substitution - coding silent 2:47808178-47808178 - HCC2998 COSM1668902 c.2387T>G p.F796C Substitution - Missense 2:47808344-47808344 - tumor_4112512 COSM3357593 c.2304-2A>G p.? Unknown 2:47808429-47808429 - 23_FL COSM4171175 c.954_955delCA p.D318fs*5 Deletion - Frameshift 2:47833050-47833051 - tumor_4178310 COSM5948638 c.226G>T p.E76* Substitution - Nonsense 2:47905495-47905495 - TCGA-D5-6540-01 COSM1408341 c.248C>T p.A83V Substitution - Missense 2:47839754-47839754 - TCGA-23-1119-01 COSM77709 c.2338A>G p.I780V Substitution - Missense 2:47808393-47808393 - TCGA-AP-A059-01 COSM1021322 c.2222C>A p.A741D Substitution - Missense 2:47809239-47809239 - T98G COSM3186128 c.609A>T p.V203V Substitution - coding silent 2:47835980-47835980 - TCGA-MH-A561-01 COSM3991337 c.1811G>A p.G604E Substitution - Missense 2:47813811-47813811 - sysucc-274T COSM5476385 c.2358C>T p.H786H Substitution - coding silent 2:47809688-47809688 - TCGA-ER-A19P-06 COSM3581886 c.2087-1G>C p.? Unknown 2:47809708-47809708 - P6 COSM1315771 c.1442A>G p.D481G Substitution - Missense 2:47822226-47822226 - tumor_4182393 COSM1161356 c.2096T>A p.I699N Substitution - Missense 2:47809698-47809698 - TCGA-B5-A11E-01 COSM1021325 c.730T>G p.S244A Substitution - Missense 2:47833023-47833023 - 34 COSM3186058 c.2491A>G p.S831G Substitution - Missense 2:47809222-47809222 - TCGA-FD-A3N5-01 COSM1306833 c.853G>A p.D285N Substitution - Missense 2:47834660-47834660 - T98G COSM3186129 c.357A>T p.V119V Substitution - coding silent 2:47835980-47835980 - TCGA-AC-A2QH-01 COSM5834465 c.714delT p.I238fs*23 Deletion - Frameshift 2:47833039-47833039 - tumor_4120193 COSM3953049 c.2227G>A p.G743S Substitution - Missense 2:47813234-47813234 - PCSI_0077_Pa_X COSM3380271 c.105G>A p.M35I Substitution - Missense 2:47839645-47839645 - 0065_CRUK_PC_0065_T1_DNA COSM3782207 c.1669-10T>A p.? Unknown 2:47818874-47818874 - TCGA-FV-A23B-01 COSM4914057 c.2627A>G p.H876R Substitution - Missense 2:47808356-47808356 - TCGA-BR-6852-01 COSM4094461 c.57A>G p.R19R Substitution - coding silent 2:47839693-47839693 - LS174T COSM190069 c.1043C>T p.A348V Substitution - Missense 2:47832452-47832452 - TCGA-AR-A1AM-01 COSM3839617 c.1173C>A p.H391Q Substitution - Missense 2:47823334-47823334 - TCGA-AX-A060-01 COSM1021326 c.412A>G p.N138D Substitution - Missense 2:47835925-47835925 - AB COSM5414687 c.2045C>G p.P682R Substitution - Missense 2:47810357-47810357 - YUDAB COSM1690546 c.2323G>C p.D775H Substitution - Missense 2:47810331-47810331 - GHE0624 COSM5713472 c.919_920delGT p.V307fs*1 Deletion - Frameshift 2:47832660-47832661 - ESCC_42 COSM5629704 c.858T>C p.C286C Substitution - coding silent 2:47832812-47832812 - LN229 COSM3186064 c.2254A>T p.R752W Substitution - Missense 2:47810400-47810400 - LC_C18 COSM1185899 c.395G>A p.G132E Substitution - Missense 2:47835942-47835942 - TCGA-A4-8630-01 COSM3991338 c.1623T>G p.N541K Substitution - Missense 2:47822297-47822297 - SNU-175 COSM3186061 c.2139delT p.F713fs*10 Deletion - Frameshift 2:47809655-47809655 - tumor_4184094 COSM3357591 c.2366A>G p.H789R Substitution - Missense 2:47808365-47808365 - tumor_4125240 COSM1161360 c.1706T>C p.L569P Substitution - Missense 2:47818827-47818827 - TCGA-B5-A11E-01 COSM1592208 c.982T>G p.S328A Substitution - Missense 2:47833023-47833023 - TCGA-D8-A27P-01 COSM1483121 c.1691A>G p.N564S Substitution - Missense 2:47822229-47822229 - TCGA-D8-A27P-01 COSM1483122 c.1439A>G p.N480S Substitution - Missense 2:47822229-47822229 - TCGA-B0-5702-01 COSM4858130 c.1506T>A p.T502T Substitution - coding silent 2:47823253-47823253 - 587336 COSM1206793 c.2146C>T p.R716W Substitution - Missense 2:47809648-47809648 - BL3 COSM1161360 c.1706T>C p.L569P Substitution - Missense 2:47818827-47818827 - RK26-R11 COSM4411072 c.413G>C p.R138T Substitution - Missense 2:47839448-47839448 - TCGA-BR-6452-01 COSM721722 c.376A>G p.M126V Substitution - Missense 2:47835961-47835961 - TCGA-D8-A1XK-01 COSM3839615 c.1570G>T p.E524* Substitution - Nonsense 2:47819054-47819054 - ESCC_127 COSM5641511 c.1047C>T p.N349N Substitution - coding silent 2:47832875-47832875 - TCGA-F4-6856-01 COSM1408323 c.2000A>G p.Q667R Substitution - Missense 2:47818785-47818785 - tumor_4194218 COSM4879550 c.1996G>T p.V666F Substitution - Missense 2:47818789-47818789 - TCGA-BR-8372-01 COSM3186049 c.2486A>G p.Y829C Substitution - Missense 2:47808164-47808164 - TCGA-EE-A2MR-06 COSM3581892 c.71C>T p.P24L Substitution - Missense 2:47839679-47839679 - TCGA-EL-A4K6-01 COSM3372800 c.297T>C p.C99C Substitution - coding silent 2:47838897-47838897 - TCGA-DC-4749-01 COSM3426491 c.553C>T p.R185C Substitution - Missense 2:47838893-47838893 - 587376 COSM1206795 c.370C>T p.R124C Substitution - Missense 2:47835967-47835967 - KPOPBR-24-T COSM5964206 c.1984G>A p.E662K Substitution - Missense 2:47810418-47810418 - CHC1152T COSM4791232 c.2025C>T p.L675L Substitution - coding silent 2:47810377-47810377 - RK159_C01 COSM1632019 c.2761T>G p.S921A Substitution - Missense 2:47808141-47808141 - RK133_C01 COSM1632021 c.2724T>C p.D908D Substitution - coding silent 2:47808178-47808178 - TCGA-B5-A0K2-01 COSM1021328 c.146G>C p.R49P Substitution - Missense 2:47839463-47839463 - tumor_4112512 COSM3357588 c.2784A>T p.*928C Nonstop extension 2:47808118-47808118 - TCGA-AX-A060-01 COSM1021329 c.84G>A p.A28A Substitution - coding silent 2:47839666-47839666 - SNUH_G64_S1 COSM3682658 c.1679A>G p.Y560C Substitution - Missense 2:47818854-47818854 - ZZUFHECRKL-G056T COSM5413632 c.1921-10delT p.? Unknown 2:47818874-47818874 - tumor_4190495 COSM3186082 c.2084-2A>G p.? Unknown 2:47813379-47813379 - HCC134 COSM3709677 c.808T>G p.S270A Substitution - Missense 2:47832862-47832862 - TCGA-D5-6924-01 COSM1408328 c.1214A>G p.N405S Substitution - Missense 2:47823293-47823293 - TCGA-AP-A059-01 COSM1592211 c.2474C>A p.A825D Substitution - Missense 2:47809239-47809239 - HCC2998 COSM1668901 c.2639T>G p.F880C Substitution - Missense 2:47808344-47808344 - HCC134 COSM3709676 c.1060T>G p.S354A Substitution - Missense 2:47832862-47832862 - KYSE150 COSM5049530 c.296G>A p.C99Y Substitution - Missense 2:47838898-47838898 - HRA19 COSM4637894 c.1989A>G p.E663E Substitution - coding silent 2:47810413-47810413 - RK054_C01 COSM1632023 c.2432A>C p.N811T Substitution - Missense 2:47809614-47809614 - TCGA-BR-6802-01 COSM4094448 c.1625G>A p.S542N Substitution - Missense 2:47818999-47818999 - NB07C COSM1236431 c.308G>T p.R103I Substitution - Missense 2:47839694-47839694 - TCGA-18-3417-01 COSM721724 c.844A>T p.I282F Substitution - Missense 2:47832826-47832826 - tumor_4184094 COSM3357590 c.2618A>G p.H873R Substitution - Missense 2:47808365-47808365 - SNU-C2B COSM3186062 c.2334C>T p.A778A Substitution - coding silent 2:47810320-47810320 - tAML-01 COSM211448 c.1611G>T p.W537C Substitution - Missense 2:47819013-47819013 - tumor_4112512 COSM3357589 c.2532A>T p.*844C Nonstop extension 2:47808118-47808118 - 477 COSM4438787 c.1123G>C p.D375H Substitution - Missense 2:47832799-47832799 - T3152 COSM4683919 c.914T>C p.V305A Substitution - Missense 2:47832666-47832666 - TCGA-BR-8372-01 COSM3186048 c.2738A>G p.Y913C Substitution - Missense 2:47808164-47808164 - 0065_CRUK_PC_0065_T1_DNA COSM3782206 c.1921-10T>A p.? Unknown 2:47818874-47818874 - TCGA-60-2698-01 COSM721723 c.841G>A p.E281K Substitution - Missense 2:47832829-47832829 - TCGA-AP-A0LM-01 COSM1592212 c.2693C>A p.P898H Substitution - Missense 2:47808209-47808209 - tumor_4177856 COSM3186082 c.2084-2A>G p.? Unknown 2:47813379-47813379 - 2276235 COSM4389223 c.1891A>C p.K631Q Substitution - Missense 2:47813318-47813318 - BL1 COSM4777471 c.2348T>A p.I783N Substitution - Missense 2:47809698-47809698 - LC_C18 COSM1185898 c.647G>A p.G216E Substitution - Missense 2:47835942-47835942 - TCGA-EJ-5498-01 COSM1651147 c.1296G>A p.A432A Substitution - coding silent 2:47832451-47832451 - RK212_C01 COSM3743815 c.2489A>G p.D830G Substitution - Missense 2:47808161-47808161 - TCGA-DA-A1IA-06 COSM1690548 c.506C>T p.S169F Substitution - Missense 2:47838940-47838940 - SNUH_G17_S1 COSM3682660 c.1675G>T p.V559F Substitution - Missense 2:47818858-47818858 - TCGA-KV-A6GE-01 COSM3991340 c.10G>C p.V4L Substitution - Missense 2:47905711-47905711 - TCGA-18-3416-01 COSM4859016 c.2081C>T p.S694F Substitution - Missense 2:47813793-47813793 - ESCC_84 COSM5649620 c.2722_2723insT p.D908fs*7 Insertion - Frameshift 2:47808179-47808180 - 4 COSM4169972 c.1463C>A p.A488E Substitution - Missense 2:47820444-47820444 - TCGA-AX-A05Z-01 COSM1021320 c.2452G>T p.A818S Substitution - Missense 2:47808198-47808198 - TCGA-EK-A2RJ-01 COSM4832182 c.1940G>C p.R647T Substitution - Missense 2:47813269-47813269 - TCGA-A2-A04X-01 COSM1483120 c.1771G>A p.D591N Substitution - Missense 2:47820388-47820388 - BL3 COSM4777472 c.1958T>C p.L653P Substitution - Missense 2:47818827-47818827 - TCGA-B0-5702-01 COSM477465 c.1254T>A p.T418T Substitution - coding silent 2:47823253-47823253 - TCGA-EE-A2ML-06 COSM3581890 c.1212T>C p.A404A Substitution - coding silent 2:47823295-47823295 - TCGA-HU-8602-01 COSM4094455 c.1471A>G p.T491A Substitution - Missense 2:47823288-47823288 - BRC11 COSM5025624 c.560G>T p.S187I Substitution - Missense 2:47838886-47838886 - TCGA-EE-A20C-06 COSM3581884 c.2198A>T p.N733I Substitution - Missense 2:47809263-47809263 - PD22366a COSM5792972 c.1880G>C p.G627A Substitution - Missense 2:47813329-47813329 - TCGA-F4-6856-01 COSM1408324 c.1748A>G p.Q583R Substitution - Missense 2:47818785-47818785 - PCSI_0077_Pa_P_526 COSM3380270 c.357G>A p.M119I Substitution - Missense 2:47839645-47839645 - TCGA-FU-A3NI-01 COSM4849282 c.1343G>A p.R448Q Substitution - Missense 2:47832404-47832404 - TCGA-G4-6304-01 COSM1408338 c.368C>T p.T123I Substitution - Missense 2:47835969-47835969 - YUKRIN COSM1690549 c.254C>T p.S85F Substitution - Missense 2:47838940-47838940 - ESO-859 COSM1238875 c.1170A>G p.I390M Substitution - Missense 2:47823337-47823337 - TCGA-CM-6162-01 COSM1408326 c.1743G>T p.G581G Substitution - coding silent 2:47818790-47818790 - TCGA-A6-5661-01 COSM1408331 c.952_955delGACA p.D318fs*3 Deletion - Frameshift 2:47833050-47833053 - LS174T COSM3186118 c.971delA p.N324fs*21 Deletion - Frameshift 2:47833034-47833034 - PT33 COSM3380271 c.105G>A p.M35I Substitution - Missense 2:47839645-47839645 - BK0047D COSM4187798 c.2227+2T>C p.? Unknown 2:47813232-47813232 - TCGA-HU-8602-01 COSM4094456 c.1219A>G p.T407A Substitution - Missense 2:47823288-47823288 - TCGA-CG-5733-01 COSM4094442 c.2459A>G p.E820G Substitution - Missense 2:47808191-47808191 - 062T COSM1730131 c.2052A>C p.L684F Substitution - Missense 2:47810350-47810350 - TCGA-BR-4362-01 COSM4094450 c.1553A>G p.K518R Substitution - Missense 2:47819071-47819071 - tumor_4194218 COSM1161359 c.1744G>T p.V582F Substitution - Missense 2:47818789-47818789 - CSCC-4-T COSM4589756 c.170_171insAGC p.P57_P58insA Insertion - In frame 2:47905550-47905551 - HCC134T COSM3709675 c.809C>A p.S270Y Substitution - Missense 2:47832861-47832861 - ESCC_76 COSM5635160 c.2519C>T p.S840L Substitution - Missense 2:47809194-47809194 - T3152 COSM4683918 c.1166T>C p.V389A Substitution - Missense 2:47832666-47832666 - TCGA-BR-6452-01 COSM4094457 c.628A>G p.M210V Substitution - Missense 2:47835961-47835961 - 18D COSM1235228 c.2258A>G p.N753S Substitution - Missense 2:47810396-47810396 - ESCC_81 COSM5635919 c.467A>G p.Y156C Substitution - Missense 2:47834870-47834870 - BD212T COSM5501418 c.190+9T>A p.? Unknown 2:47839410-47839410 - tumor_4182393 COSM4777471 c.2348T>A p.I783N Substitution - Missense 2:47809698-47809698 - 34 COSM3186059 c.2239A>G p.S747G Substitution - Missense 2:47809222-47809222 - CHC1152T COSM4791231 c.2277C>T p.L759L Substitution - coding silent 2:47810377-47810377 - TCGA-G4-6304-01 COSM1408329 c.1139G>A p.R380Q Substitution - Missense 2:47832783-47832783 - HCC071T COSM5821655 c.2032C>T p.R678C Substitution - Missense 2:47813842-47813842 - TCGA-D9-A6EC-06 COSM4404973 c.1892A>C p.K631T Substitution - Missense 2:47813317-47813317 - TCGA-B5-A0K2-01 COSM4872280 c.398G>C p.R133P Substitution - Missense 2:47839463-47839463 - BCM617T COSM4955996 c.1123G>T p.D375Y Substitution - Missense 2:47832799-47832799 - ASHPC_0002_Pa_P_4 COSM3782206 c.1921-10T>A p.? Unknown 2:47818874-47818874 - TCGA-CJ-4916-01 COSM477466 c.272A>G p.D91G Substitution - Missense 2:47838922-47838922 - Sample_1 COSM5021304 c.2655-9T>C p.? Unknown 2:47808256-47808256 - sysucc-274T COSM5476386 c.2106C>T p.H702H Substitution - coding silent 2:47809688-47809688 - TCGA-60-2719-01 COSM4861734 c.2590A>G p.I864V Substitution - Missense 2:47808393-47808393 - TCGA-A6-5661-01 COSM1408332 c.700_703delGACA p.D234fs*3 Deletion - Frameshift 2:47833050-47833053 - LS180 COSM190069 c.1043C>T p.A348V Substitution - Missense 2:47832452-47832452 - H COSM5414686 c.2297C>G p.P766R Substitution - Missense 2:47810357-47810357 - BCM617T COSM4955996 c.1123G>T p.D375Y Substitution - Missense 2:47832799-47832799 - CHEWS013 COSM4583534 c.246T>G p.P82P Substitution - coding silent 2:47839756-47839756 - BHY COSM3186132 c.481G>A p.D161N Substitution - Missense 2:47838965-47838965 - TCGA-G4-6304-01 COSM1408330 c.887G>A p.R296Q Substitution - Missense 2:47832783-47832783 - T3502 COSM4683914 c.2515A>G p.I839V Substitution - Missense 2:47809198-47809198 - TCGA-37-4141-01 COSM721722 c.376A>G p.M126V Substitution - Missense 2:47835961-47835961 - TCGA-D8-A1XK-01 COSM3839614 c.1822G>T p.E608* Substitution - Nonsense 2:47819054-47819054 - TCGA-21-1070-01 COSM4858420 c.287A>G p.N96S Substitution - Missense 2:47839715-47839715 - ATL020 COSM5708238 c.1421T>C p.I474T Substitution - Missense 2:47823338-47823338 - 112281 COSM94284 c.332T>C p.L111S Substitution - Missense 2:47838862-47838862 - KYSE150 COSM5049529 c.548G>A p.C183Y Substitution - Missense 2:47838898-47838898 - BN13 COSM1614887 c.1147-9A>G p.? Unknown 2:47823369-47823369 - KPOPBR-24-T COSM5964205 c.2236G>A p.E746K Substitution - Missense 2:47810418-47810418 - tumor_4177856 COSM1161358 c.1832-2A>G p.? Unknown 2:47813379-47813379 - KYSE450 COSM3186135 c.199G>T p.A67S Substitution - Missense 2:47838995-47838995 - HCC134T COSM3709674 c.1061C>A p.S354Y Substitution - Missense 2:47832861-47832861 - YUKRIN COSM1690548 c.506C>T p.S169F Substitution - Missense 2:47838940-47838940 - pfg008T COSM1641927 c.2228-2A>G p.? Unknown 2:47810428-47810428 - TCGA-BS-A0UF-01 COSM1592209 c.1934T>G p.F645C Substitution - Missense 2:47818851-47818851 - 234 COSM3730783 c.2198G>T p.G733V Substitution - Missense 2:47813263-47813263 - P6 COSM1315770 c.1694A>G p.D565G Substitution - Missense 2:47822226-47822226 - OCI-LY1 COSM3682658 c.1679A>G p.Y560C Substitution - Missense 2:47818854-47818854 - ESO-887 COSM1252252 c.2000A>T p.Q667L Substitution - Missense 2:47818785-47818785 - 18D COSM1235229 c.2006A>G p.N669S Substitution - Missense 2:47810396-47810396 - ESCC_100 COSM5047912 c.2740_2741insT p.D914fs*9 Insertion - Frameshift 2:47808161-47808162 - FARAGE COSM4422828 c.1_2532del2532 p.0? Whole gene deletion 1_RESISTANT COSM1721224 c.98_100delCGC p.P33delP Deletion - In frame 2:47905621-47905623 - TCGA-EE-A29Q-06 COSM3581887 c.1745C>T p.P582L Substitution - Missense 2:47820414-47820414 - SNU-C2B COSM3186063 c.2082C>T p.A694A Substitution - coding silent 2:47810320-47810320 - TCGA-FD-A3N5-01 COSM1306834 c.601G>A p.D201N Substitution - Missense 2:47834660-47834660 - TCGA-D9-A6EC-06 COSM4404972 c.2144A>C p.K715T Substitution - Missense 2:47813317-47813317 - 2276235 COSM4389225 c.997_997G>AA p.D333fs*8 Complex - frameshift 2:47832583-47832583 - TCGA-37-4141-01 COSM4094457 c.628A>G p.M210V Substitution - Missense 2:47835961-47835961 - TCGA-AX-A05Z-01 COSM1021323 c.2163T>A p.F721L Substitution - Missense 2:47809631-47809631 - TCGA-AX-A05Z-01 COSM1592210 c.2415T>A p.F805L Substitution - Missense 2:47809631-47809631 - TCGA-BR-6452-01 COSM4094452 c.1440T>C p.N480N Substitution - coding silent 2:47822228-47822228 - HX37T COSM3709672 c.1983T>C p.H661H Substitution - coding silent 2:47818802-47818802 - TCGA-D5-6924-01 COSM1408327 c.1466A>G p.N489S Substitution - Missense 2:47823293-47823293 - SC_9092 COSM4987647 c.146C>A p.P49Q Substitution - Missense 2:47905575-47905575 - 234 COSM3730784 c.1946G>T p.G649V Substitution - Missense 2:47813263-47813263 - BN13 COSM1614886 c.1399-9A>G p.? Unknown 2:47823369-47823369 - TCGA-FV-A23B-01 COSM4914058 c.2375A>G p.H792R Substitution - Missense 2:47808356-47808356 - ESO-0013 COSM1252248 c.1787G>A p.G596E Substitution - Missense 2:47820372-47820372 - 23_FL COSM4171176 c.702_703delCA p.D234fs*5 Deletion - Frameshift 2:47833050-47833051 - TCGA-FU-A3NI-01 COSM4849283 c.1091G>A p.R364Q Substitution - Missense 2:47832404-47832404 - TCGA-BS-A0UF-01 COSM1021324 c.1682T>G p.F561C Substitution - Missense 2:47818851-47818851 - TCGA-AC-A2QH-01 COSM5834464 c.966delT p.I322fs*23 Deletion - Frameshift 2:47833039-47833039 - TCGA-BR-6452-01 COSM4094446 c.1675G>A p.V559I Substitution - Missense 2:47818858-47818858 - TCGA-09-1675-01 COSM1327058 c.503A>G p.H168R Substitution - Missense 2:47834834-47834834 - ccRCC-41 COSM1661817 c.580A>G p.I194V Substitution - Missense 2:47838866-47838866 - Sample_1 COSM5021305 c.2403-9T>C p.? Unknown 2:47808256-47808256 - TCGA-DO-A2HM-01 COSM3372798 c.1778G>C p.R593T Substitution - Missense 2:47813844-47813844 - TCGA-DO-A2HM-01 COSM3372797 c.2030G>C p.R677T Substitution - Missense 2:47813844-47813844 - LP6005500-DNA_B01 COSM4410140 c.1954G>C p.V652L Substitution - Missense 2:47818831-47818831 - NCI-H720 COSM3186088 c.1615A>T p.T539S Substitution - Missense 2:47819009-47819009 - tumor_4112512 COSM3357592 c.2556-2A>G p.? Unknown 2:47808429-47808429 - TCGA-A2-A04X-01 COSM442971 c.1519G>A p.D507N Substitution - Missense 2:47820388-47820388 - TCGA-A4-8630-01 COSM3991339 c.1371T>G p.N457K Substitution - Missense 2:47822297-47822297 - sysucc-1163T COSM3782206 c.1921-10T>A p.? Unknown 2:47818874-47818874 - OSCC-GB_00340111 COSM3714286 c.2306G>T p.R769M Substitution - Missense 2:47810348-47810348 - BL2 COSM4777465 c.2289_2290delTA p.N763fs*12 Deletion - Frameshift 2:47810364-47810365 - TCGA-BR-6802-01 COSM4094447 c.1877G>A p.S626N Substitution - Missense 2:47818999-47818999 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.352677 2p16.3 607871

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAC - IntronicDeletion . c.2227+9_2227+11delGTT 2 48040362 RCCC - AC IntronicInsertion . c.233-18181_233-18180insGT 2 48085088 CM A C IntronicSNV . c.2227+119T>G 2 48040254 HC A G Missense p.L653P c.1958T>C 2 48045966 DLBCL A G Missense p.V457A c.1370T>C 2 48059516 CM A G Synonymous p.A488A c.1464T>C 2 48050434 CM A G Synonymous p.D908D c.2724T>C 2 48035317 HC A T Missense p.I373N c.1118T>A 2 48059943 CM A T Missense p.I783N c.2348T>A 2 48036837 DLBCL A T Synonymous p.T502T c.1506T>A 2 48050392 RCCC C A Missense p.D910Y c.2728G>T 2 48035313 HNSC C A Missense p.R103I c.308G>T 2 48066833 NB C A Missense p.S187I c.560G>T 2 48066025 BRCA C A Missense p.V666F c.1996G>T 2 48045928 DLBCL C A Synonymous p.A432A c.1296G>T 2 48059590 LUAD C G Missense p.E879Q c.2635G>C 2 48035487 HNSC C G Missense p.R133P c.398G>C 2 48066602 UCEC C G Missense p.R677T c.2030G>C 2 48040983 THCA C G SpliceAcceptorSNV . c.2339-1G>C 2 48036847 CM C T Missense p.D285N c.853G>A 2 48061799 BLCA C T Missense p.D591N c.1771G>A 2 48047527 BRCA C T Missense p.G596E c.1787G>A 2 48047511 ESCA C T Missense p.M211I c.633G>A 2 48063095 HNSC C T Missense p.S626N c.1877G>A 2 48046138 STAD C T Missense p.V182I c.544G>A 2 48066041 HNSC C T Synonymous p.A112A c.336G>A 2 48066805 UCEC C T Synonymous p.A432A c.1296G>A 2 48059590 PRAD - GA Frameshift p.N811Lfs*3 c.2430_2431insCT 2 48036755 AML G A Missense p.A134V c.401C>T 2 48066599 HNSC G A Missense p.A432V c.1295C>T 2 48059591 CM G A Missense p.A432V c.1295C>T 2 48059591 COREAD G A Missense p.P229L c.686C>T 2 48063042 CM G A Missense p.P582L c.1745C>T 2 48047553 CM G A Missense p.S169F c.506C>T 2 48066079 CM G A Missense p.S694F c.2081C>T 2 48040932 LUSC G A Nonsense p.Q156* c.466C>T 2 48066119 THCA G A Nonsense p.Q38* c.112C>T 2 48132748 DLBCL G A Synonymous p.G121G c.363C>T 2 48066637 SCLC G A Synonymous p.I405I c.1215C>T 2 48059756 CM G A Synonymous p.L630L c.1888C>T 2 48046127 CM G C Missense p.T616S c.1847C>G 2 48046168 COREAD - GG Frameshift p.T906Lfs*15 c.2713_2714dupCC 2 48035327 HNSC G T Missense p.H508N c.1522C>A 2 48050376 CM G T Missense p.L165I c.493C>A 2 48066092 ESCA T A 3-UTRSNV . c.2781+1090A>T 2 48034170 HC T A 3-UTRSNV . c.2781+3A>T 2 48035257 DLBCL T A Missense p.D192V c.575A>T 2 48066010 LUAD T A Missense p.I366F c.1096A>T 2 48059965 LUSC T A Missense p.N349Y c.1045A>T 2 48060016 LUAD T A Missense p.N817I c.2450A>T 2 48036402 CM T A Missense p.Q667L c.2000A>T 2 48045924 ESCA T C IntronicSNV . c.2228-635A>G 2 48038200 DLBCL T C IntronicSNV . c.232+9152A>G 2 48123476 CLL T C Missense p.D175G c.524A>G 2 48066061 RCCC T C Missense p.E904G c.2711A>G 2 48035330 STAD T C Missense p.I474M c.1422A>G 2 48050476 ESCA T C Missense p.I864V c.2590A>G 2 48035532 LUSC T C Missense p.M210V c.628A>G 2 48063100 LUSC T C Missense p.N222D c.664A>G 2 48063064 UCEC T C Missense p.N564S c.1691A>G 2 48049368 BRCA T C Missense p.N96S c.287A>G 2 48066854 LUSC T C SpliceAcceptorSNV . c.2228-2A>G 2 48037567 STAD T C Synonymous p.R103R c.309A>G 2 48066832 STAD TCTAACAAAAACTT - IntronicDeletion . c.1616+85_1616+98delAAGTTTTTGTTAGA 2 48050184 CM - T Frameshift p.C390Mfs*3 c.1167dupA 2 48059804 HNSC T G Missense p.N811T c.2432A>C 2 48036753 HC