Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 187444625 187444625 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr3:187444625C>T c.1602G>A c.(1600-1602)aaG>aaA p.K534K BLCA 3 187446846 187446846 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr3:187446846G>A c.1347C>T c.(1345-1347)atC>atT p.I449I BLCA 3 187446976 187446976 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr3:187446976C>T c.1217G>A c.(1216-1218)cGa>cAa p.R406Q BRCA 3 187446261 187446261 + Missense_Mutation SNP G G A TCGA-LL-A5YM-01A-11D-A28B-09 TCGA-LL-A5YM-10A-01D-A28E-09 g.chr3:187446261G>A c.1427C>T c.(1426-1428)aCg>aTg p.T476M BRCA 3 187447483 187447483 + Missense_Mutation SNP G G A TCGA-D8-A1JP-01A-11D-A13L-09 TCGA-D8-A1JP-10A-01D-A13O-09 g.chr3:187447483G>A c.710C>T c.(709-711)cCa>cTa p.P237L BRCA 3 187451419 187451419 + Missense_Mutation SNP G G C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr3:187451419G>C c.63C>G c.(61-63)aaC>aaG p.N21K CESC 3 187443293 187443293 + Frame_Shift_Del DEL A A - TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chr3:187443293delA c.1833delT c.(1831-1833)tttfs p.F611fs CESC 3 187443392 187443392 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:187443392G>T c.1734C>A c.(1732-1734)atC>atA p.I578I CESC 3 187444680 187444680 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr3:187444680C>T c.1547G>A c.(1546-1548)gGg>gAg p.G516E CESC 3 187447542 187447542 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:187447542C>T c.651G>A c.(649-651)cgG>cgA p.R217R COAD 3 187442788 187442788 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:187442788G>A c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W COAD 3 187443314 187443314 + Silent SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr3:187443314G>A c.1812C>T c.(1810-1812)tgC>tgT p.C604C COAD 3 187443345 187443345 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:187443345C>T c.1781G>A c.(1780-1782)cGa>cAa p.R594Q COAD 3 187443345 187443345 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:187443345C>T c.1781G>A c.(1780-1782)cGa>cAa p.R594Q COAD 3 187443345 187443345 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:187443345C>T c.1781G>A c.(1780-1782)cGa>cAa p.R594Q COAD 3 187443369 187443369 + Missense_Mutation SNP G G T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr3:187443369G>T c.1757C>A c.(1756-1758)cCa>cAa p.P586Q COAD 3 187444607 187444607 + Silent SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:187444607G>T c.1620C>A c.(1618-1620)acC>acA p.T540T COAD 3 187444640 187444640 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr3:187444640C>T c.1587G>A c.(1585-1587)gaG>gaA p.E529E COAD 3 187444677 187444677 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:187444677G>A c.1550C>T c.(1549-1551)gCc>gTc p.A517V COAD 3 187446895 187446895 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:187446895G>A c.1298C>T c.(1297-1299)gCc>gTc p.A433V COAD 3 187447117 187447117 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:187447117G>A c.1076C>T c.(1075-1077)tCt>tTt p.S359F COAD 3 187447235 187447236 + Frame_Shift_Ins INS - - G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:187447235_187447236insG c.957_958insC c.(955-960)cccaatfs p.N320fs COAD 3 187447315 187447315 + Missense_Mutation SNP T T A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:187447315T>A c.878A>T c.(877-879)tAc>tTc p.Y293F COAD 3 187447463 187447463 + Silent SNP G G T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:187447463G>T c.730C>A c.(730-732)Cgg>Agg p.R244R COAD 3 187447620 187447620 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:187447620C>T c.573G>A c.(571-573)ccG>ccA p.P191P COAD 3 187447630 187447630 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:187447630A>G c.563T>C c.(562-564)cTg>cCg p.L188P COAD 3 187447774 187447774 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:187447774C>T c.419G>A c.(418-420)cGt>cAt p.R140H COADREAD 3 187442788 187442788 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:187442788G>A c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W COADREAD 3 187443314 187443314 + Silent SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr3:187443314G>A c.1812C>T c.(1810-1812)tgC>tgT p.C604C COADREAD 3 187443345 187443345 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:187443345C>T c.1781G>A c.(1780-1782)cGa>cAa p.R594Q COADREAD 3 187443345 187443345 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:187443345C>T c.1781G>A c.(1780-1782)cGa>cAa p.R594Q COADREAD 3 187443345 187443345 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:187443345C>T c.1781G>A c.(1780-1782)cGa>cAa p.R594Q COADREAD 3 187443369 187443369 + Missense_Mutation SNP G G T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr3:187443369G>T c.1757C>A c.(1756-1758)cCa>cAa p.P586Q COADREAD 3 187444607 187444607 + Silent SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:187444607G>T c.1620C>A c.(1618-1620)acC>acA p.T540T COADREAD 3 187444640 187444640 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr3:187444640C>T c.1587G>A c.(1585-1587)gaG>gaA p.E529E COADREAD 3 187444677 187444677 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:187444677G>A c.1550C>T c.(1549-1551)gCc>gTc p.A517V COADREAD 3 187446270 187446270 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:187446270G>A c.1418C>T c.(1417-1419)cCg>cTg p.P473L COADREAD 3 187446895 187446895 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:187446895G>A c.1298C>T c.(1297-1299)gCc>gTc p.A433V COADREAD 3 187447117 187447117 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:187447117G>A c.1076C>T c.(1075-1077)tCt>tTt p.S359F COADREAD 3 187447188 187447188 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:187447188C>A c.1005G>T c.(1003-1005)caG>caT p.Q335H COADREAD 3 187447235 187447236 + Frame_Shift_Ins INS - - G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:187447235_187447236insG c.957_958insC c.(955-960)cccaatfs p.N320fs COADREAD 3 187447315 187447315 + Missense_Mutation SNP T T A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:187447315T>A c.878A>T c.(877-879)tAc>tTc p.Y293F COADREAD 3 187447463 187447463 + Silent SNP G G T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:187447463G>T c.730C>A c.(730-732)Cgg>Agg p.R244R COADREAD 3 187447620 187447620 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:187447620C>T c.573G>A c.(571-573)ccG>ccA p.P191P COADREAD 3 187447630 187447630 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:187447630A>G c.563T>C c.(562-564)cTg>cCg p.L188P COADREAD 3 187447774 187447774 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:187447774C>T c.419G>A c.(418-420)cGt>cAt p.R140H DLBC 3 187442783 187442783 + Missense_Mutation SNP G G T TCGA-FM-8000-01A-11D-2210-10 TCGA-FM-8000-10A-01D-2210-10 g.chr3:187442783G>T c.1923C>A c.(1921-1923)caC>caA p.H641Q ESCA 3 187440319 187440319 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:187440319G>T c.2048C>A c.(2047-2049)gCc>gAc p.A683D ESCA 3 187447231 187447231 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr3:187447231G>A c.962C>T c.(961-963)gCa>gTa p.A321V GBM 3 187442788 187442788 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr3:187442788G>A c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W GBM 3 187443315 187443315 + Missense_Mutation SNP C C T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 g.chr3:187443315C>T c.1811G>A c.(1810-1812)tGc>tAc p.C604Y GBM 3 187447774 187447774 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 g.chr3:187447774C>T c.419G>A c.(418-420)cGt>cAt p.R140H GBMLGG 3 187442788 187442788 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr3:187442788G>A c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W GBMLGG 3 187443315 187443315 + Missense_Mutation SNP C C T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 g.chr3:187443315C>T c.1811G>A c.(1810-1812)tGc>tAc p.C604Y GBMLGG 3 187446838 187446838 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:187446838C>A c.1355G>T c.(1354-1356)aGg>aTg p.R452M GBMLGG 3 187447177 187447180 + Frame_Shift_Del DEL CAGT CAGT - TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr3:187447177_187447180delCAGT c.1013_1016delACTG c.(1012-1017)gactgcfs p.DC338fs GBMLGG 3 187447458 187447458 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:187447458C>T c.735G>A c.(733-735)ccG>ccA p.P245P GBMLGG 3 187447676 187447676 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr3:187447676G>A c.517C>T c.(517-519)Cct>Tct p.P173S GBMLGG 3 187447774 187447774 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 g.chr3:187447774C>T c.419G>A c.(418-420)cGt>cAt p.R140H GBMLGG 3 187449545 187449545 + Missense_Mutation SNP A A G TCGA-CS-5393-01A-01D-1468-08 TCGA-CS-5393-10A-01D-1468-08 g.chr3:187449545A>G c.335T>C c.(334-336)cTg>cCg p.L112P HNSC 3 187447044 187447044 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr3:187447044G>A c.1149C>T c.(1147-1149)ctC>ctT p.L383L HNSC 3 187447102 187447102 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr3:187447102G>A c.1091C>T c.(1090-1092)gCc>gTc p.A364V HNSC 3 187447147 187447147 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:187447147C>T c.1046G>A c.(1045-1047)aGc>aAc p.S349N HNSC 3 187447317 187447317 + Frame_Shift_Del DEL G G - TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr3:187447317delG c.876delC c.(874-876)cccfs p.P292fs HNSC 3 187447411 187447411 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr3:187447411G>C c.782C>G c.(781-783)cCc>cGc p.P261R HNSC 3 187447584 187447584 + Silent SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr3:187447584G>A c.609C>T c.(607-609)gtC>gtT p.V203V HNSC 3 187447612 187447612 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 g.chr3:187447612G>C c.581C>G c.(580-582)tCt>tGt p.S194C HNSC 3 187449600 187449600 + Missense_Mutation SNP G G A TCGA-CV-A45V-01A-21D-A25D-08 TCGA-CV-A45V-10A-01D-A25E-08 g.chr3:187449600G>A c.280C>T c.(280-282)Cgg>Tgg p.R94W KIPAN 3 187443369 187443369 + Missense_Mutation SNP G G T TCGA-CJ-4895-01A-01D-1373-10 TCGA-CJ-4895-11A-01D-1373-10 g.chr3:187443369G>T c.1757C>A c.(1756-1758)cCa>cAa p.P586Q KIPAN 3 187446247 187446247 + Nonsense_Mutation SNP G G A TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr3:187446247G>A c.1441C>T c.(1441-1443)Cag>Tag p.Q481* KIPAN 3 187446278 187446278 + Missense_Mutation SNP C C A TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr3:187446278C>A c.1410G>T c.(1408-1410)atG>atT p.M470I KIPAN 3 187446848 187446848 + Missense_Mutation SNP T T C TCGA-BP-5190-01A-01D-1429-08 TCGA-BP-5190-11A-01D-1429-08 g.chr3:187446848T>C c.1345A>G c.(1345-1347)Atc>Gtc p.I449V KIPAN 3 187447399 187447399 + Missense_Mutation SNP A A T TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr3:187447399A>T c.794T>A c.(793-795)aTc>aAc p.I265N KIPAN 3 187447718 187447718 + Missense_Mutation SNP C C A TCGA-BP-4169-01A-02D-1366-10 TCGA-BP-4169-11A-01D-1366-10 g.chr3:187447718C>A c.475G>T c.(475-477)Ggt>Tgt p.G159C KIRC 3 187443369 187443369 + Missense_Mutation SNP G G T TCGA-CJ-4895-01A-01D-1373-10 TCGA-CJ-4895-11A-01D-1373-10 g.chr3:187443369G>T c.1757C>A c.(1756-1758)cCa>cAa p.P586Q KIRC 3 187446247 187446247 + Nonsense_Mutation SNP G G A TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr3:187446247G>A c.1441C>T c.(1441-1443)Cag>Tag p.Q481* KIRC 3 187446848 187446848 + Missense_Mutation SNP T T C TCGA-BP-5190-01A-01D-1429-08 TCGA-BP-5190-11A-01D-1429-08 g.chr3:187446848T>C c.1345A>G c.(1345-1347)Atc>Gtc p.I449V KIRC 3 187447399 187447399 + Missense_Mutation SNP A A T TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr3:187447399A>T c.794T>A c.(793-795)aTc>aAc p.I265N KIRC 3 187447718 187447718 + Missense_Mutation SNP C C A TCGA-BP-4169-01A-02D-1366-10 TCGA-BP-4169-11A-01D-1366-10 g.chr3:187447718C>A c.475G>T c.(475-477)Ggt>Tgt p.G159C KIRP 3 187446278 187446278 + Missense_Mutation SNP C C A TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr3:187446278C>A c.1410G>T c.(1408-1410)atG>atT p.M470I LGG 3 187446838 187446838 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:187446838C>A c.1355G>T c.(1354-1356)aGg>aTg p.R452M LGG 3 187447177 187447180 + Frame_Shift_Del DEL CAGT CAGT - TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr3:187447177_187447180delCAGT c.1013_1016delACTG c.(1012-1017)gactgcfs p.DC338fs LGG 3 187447458 187447458 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:187447458C>T c.735G>A c.(733-735)ccG>ccA p.P245P LGG 3 187447676 187447676 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr3:187447676G>A c.517C>T c.(517-519)Cct>Tct p.P173S LGG 3 187449545 187449545 + Missense_Mutation SNP A A G TCGA-CS-5393-01A-01D-1468-08 TCGA-CS-5393-10A-01D-1468-08 g.chr3:187449545A>G c.335T>C c.(334-336)cTg>cCg p.L112P LIHC 3 187446200 187446200 + Silent SNP C C T TCGA-DD-AACC-01A-11D-A40R-10 TCGA-DD-AACC-10A-01D-A40U-10 g.chr3:187446200C>T c.1488G>A c.(1486-1488)acG>acA p.T496T LIHC 3 187447378 187447378 + Missense_Mutation SNP T T A TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr3:187447378T>A c.815A>T c.(814-816)gAt>gTt p.D272V LIHC 3 187447392 187447392 + Silent SNP T T C TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr3:187447392T>C c.801A>G c.(799-801)gaA>gaG p.E267E LIHC 3 187447680 187447680 + Silent SNP G G A TCGA-DD-A73B-01A-12D-A32G-10 TCGA-DD-A73B-10A-01D-A32G-10 g.chr3:187447680G>A c.513C>T c.(511-513)agC>agT p.S171S LIHC 3 187449531 187449531 + Missense_Mutation SNP C C A TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr3:187449531C>A c.349G>T c.(349-351)Gtt>Ttt p.V117F LUAD 3 187440292 187440292 + Missense_Mutation SNP C C T TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr3:187440292C>T c.2075G>A c.(2074-2076)cGc>cAc p.R692H LUAD 3 187440305 187440305 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr3:187440305T>C c.2062A>G c.(2062-2064)Aag>Gag p.K688E LUAD 3 187440335 187440335 + Missense_Mutation SNP G G A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr3:187440335G>A c.2032C>T c.(2032-2034)Cgc>Tgc p.R678C LUAD 3 187444586 187444586 + Missense_Mutation SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:187444586C>A c.1641G>T c.(1639-1641)aaG>aaT p.K547N LUAD 3 187446181 187446181 + Missense_Mutation SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:187446181C>T c.1507G>A c.(1507-1509)Gag>Aag p.E503K LUAD 3 187446979 187446979 + Missense_Mutation SNP G G A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr3:187446979G>A c.1214C>T c.(1213-1215)cCa>cTa p.P405L LUAD 3 187447128 187447128 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr3:187447128G>T c.1065C>A c.(1063-1065)atC>atA p.I355I LUAD 3 187447539 187447539 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr3:187447539C>A c.654G>T c.(652-654)atG>atT p.M218I LUAD 3 187447543 187447543 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr3:187447543C>T c.650G>A c.(649-651)cGg>cAg p.R217Q LUAD 3 187447552 187447552 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr3:187447552C>A c.641G>T c.(640-642)cGg>cTg p.R214L LUAD 3 187447752 187447752 + Silent SNP C C G TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr3:187447752C>G c.441G>C c.(439-441)cgG>cgC p.R147R LUAD 3 187447769 187447769 + Missense_Mutation SNP C C G TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr3:187447769C>G c.424G>C c.(424-426)Gag>Cag p.E142Q LUSC 3 187442826 187442826 + Missense_Mutation SNP T T C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 g.chr3:187442826T>C c.1880A>G c.(1879-1881)gAg>gGg p.E627G LUSC 3 187447462 187447462 + Missense_Mutation SNP C C A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr3:187447462C>A c.731G>T c.(730-732)cGg>cTg p.R244L LUSC 3 187449662 187449662 + Missense_Mutation SNP T T C TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr3:187449662T>C c.218A>G c.(217-219)aAt>aGt p.N73S LUSC 3 187449664 187449664 + Silent SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr3:187449664G>A c.216C>T c.(214-216)atC>atT p.I72I LUSC 3 187451445 187451445 + Missense_Mutation SNP G G C TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr3:187451445G>C c.37C>G c.(37-39)Cgc>Ggc p.R13G OV 3 187447315 187447315 + Missense_Mutation SNP T T A TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chr3:187447315T>A c.878A>T c.(877-879)tAc>tTc p.Y293F PAAD 3 187447157 187447157 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 g.chr3:187447157C>T c.1036G>A c.(1036-1038)Gag>Aag p.E346K PAAD 3 187447652 187447652 + Missense_Mutation SNP C C T TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr3:187447652C>T c.541G>A c.(541-543)Gcc>Acc p.A181T PAAD 3 187449609 187449609 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:187449609A>G c.271T>C c.(271-273)Tac>Cac p.Y91H PRAD 3 187446240 187446240 + Frame_Shift_Del DEL G G - TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 g.chr3:187446240delG c.1448delC c.(1447-1449)ccafs p.P483fs PRAD 3 187447232 187447232 + Missense_Mutation SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 g.chr3:187447232C>T c.961G>A c.(961-963)Gca>Aca p.A321T PRAD 3 187447376 187447376 + Missense_Mutation SNP T T C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 g.chr3:187447376T>C c.817A>G c.(817-819)Atg>Gtg p.M273V PRAD 3 187447543 187447543 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 g.chr3:187447543C>T c.650G>A c.(649-651)cGg>cAg p.R217Q PRAD 3 187447645 187447645 + Missense_Mutation SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 g.chr3:187447645C>T c.548G>A c.(547-549)aGc>aAc p.S183N PRAD 3 187451335 187451335 + Silent SNP G G A TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 g.chr3:187451335G>A c.147C>T c.(145-147)gtC>gtT p.V49V READ 3 187446270 187446270 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:187446270G>A c.1418C>T c.(1417-1419)cCg>cTg p.P473L READ 3 187447188 187447188 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:187447188C>A c.1005G>T c.(1003-1005)caG>caT p.Q335H SARC 3 187443403 187443403 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr3:187443403G>A c.1723C>T c.(1723-1725)Cgt>Tgt p.R575C SKCM 3 187442764 187442764 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:187442764G>A c.1942C>T c.(1942-1944)Cac>Tac p.H648Y SKCM 3 187442765 187442765 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:187442765G>A c.1941C>T c.(1939-1941)agC>agT p.S647S SKCM 3 187442795 187442795 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:187442795G>A c.1911C>T c.(1909-1911)acC>acT p.T637T SKCM 3 187442854 187442854 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:187442854G>A c.1852C>T c.(1852-1854)Cgt>Tgt p.R618C SKCM 3 187442854 187442854 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:187442854G>A c.1852C>T c.(1852-1854)Cgt>Tgt p.R618C SKCM 3 187442854 187442854 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:187442854G>A c.1852C>T c.(1852-1854)Cgt>Tgt p.R618C SKCM 3 187443325 187443325 + Missense_Mutation SNP G G A TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr3:187443325G>A c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S SKCM 3 187444562 187444562 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr3:187444562G>A c.1665C>T c.(1663-1665)ttC>ttT p.F555F SKCM 3 187444628 187444628 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr3:187444628G>A c.1599C>T c.(1597-1599)ctC>ctT p.L533L SKCM 3 187446258 187446258 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:187446258G>A c.1430C>T c.(1429-1431)tCc>tTc p.S477F SKCM 3 187446313 187446313 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr3:187446313G>A c.1375C>T c.(1375-1377)Cgc>Tgc p.R459C SKCM 3 187446943 187446943 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:187446943G>A c.1250C>T c.(1249-1251)cCc>cTc p.P417L SKCM 3 187447255 187447255 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:187447255G>A c.938C>T c.(937-939)gCc>gTc p.A313V SKCM 3 187447572 187447572 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr3:187447572G>A c.621C>T c.(619-621)ctC>ctT p.L207L SKCM 3 187447753 187447753 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:187447753C>G c.440G>C c.(439-441)cGg>cCg p.R147P SKCM 3 187447775 187447775 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:187447775G>A c.418C>T c.(418-420)Cgt>Tgt p.R140C SKCM 3 187449569 187449569 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr3:187449569G>A c.311C>T c.(310-312)gCt>gTt p.A104V SKCM 3 187449586 187449586 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:187449586C>T c.294G>A c.(292-294)cgG>cgA p.R98R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 187447623 187447623 single base substitution T G 3_prime_UTR_variant BLCA-CN 3 187447623 187447623 single base substitution T G downstream_gene_variant BLCA-CN 3 187447623 187447623 single base substitution T G synonymous_variant T190T 570A>C BLCA-CN 3 187447623 187447623 single base substitution T G upstream_gene_variant BLCA-CN 3 187449664 187449664 single base substitution G A downstream_gene_variant BLCA-CN 3 187449664 187449664 single base substitution G A intron_variant BLCA-CN 3 187449664 187449664 single base substitution G A splice_region_variant BLCA-CN 3 187449664 187449664 single base substitution G A synonymous_variant I72I 216C>T BRCA-EU 3 187434969 187434969 single base substitution G C downstream_gene_variant BRCA-EU 3 187434970 187434970 single base substitution C A downstream_gene_variant BRCA-EU 3 187435062 187435062 single base substitution G C downstream_gene_variant BRCA-EU 3 187436359 187436359 single base substitution C A downstream_gene_variant BRCA-EU 3 187437674 187437677 deletion of <=200bp CTGT - downstream_gene_variant BRCA-EU 3 187438350 187438350 single base substitution G A downstream_gene_variant BRCA-EU 3 187439655 187439655 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 187439655 187439655 single base substitution C G downstream_gene_variant BRCA-EU 3 187439939 187439939 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 187439939 187439939 single base substitution G T downstream_gene_variant BRCA-EU 3 187440388 187440388 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 187440388 187440388 deletion of <=200bp C - frameshift_variant C604 BRCA-EU 3 187440388 187440388 deletion of <=200bp C - frameshift_variant C660 BRCA-EU 3 187440388 187440388 deletion of <=200bp C - splice_region_variant BRCA-EU 3 187441046 187441046 single base substitution G A downstream_gene_variant BRCA-EU 3 187441046 187441046 single base substitution G A intron_variant BRCA-EU 3 187441629 187441629 single base substitution G A downstream_gene_variant BRCA-EU 3 187441629 187441629 single base substitution G A intron_variant BRCA-EU 3 187441877 187441877 single base substitution A C downstream_gene_variant BRCA-EU 3 187441877 187441877 single base substitution A C intron_variant BRCA-EU 3 187441912 187441912 single base substitution G A downstream_gene_variant BRCA-EU 3 187441912 187441912 single base substitution G A intron_variant BRCA-EU 3 187442258 187442258 single base substitution A T downstream_gene_variant BRCA-EU 3 187442258 187442258 single base substitution A T intron_variant BRCA-EU 3 187444486 187444486 single base substitution G A intron_variant BRCA-EU 3 187444486 187444486 single base substitution G A upstream_gene_variant BRCA-EU 3 187447031 187447031 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 187447031 187447031 single base substitution G C downstream_gene_variant BRCA-EU 3 187447031 187447031 single base substitution G C missense_variant Q388E 1162C>G BRCA-EU 3 187447031 187447031 single base substitution G C upstream_gene_variant BRCA-EU 3 187449000 187449000 single base substitution A G downstream_gene_variant BRCA-EU 3 187449000 187449000 single base substitution A G intron_variant BRCA-EU 3 187449569 187449569 insertion of <=200bp - G 3_prime_UTR_variant BRCA-EU 3 187449569 187449569 insertion of <=200bp - G downstream_gene_variant BRCA-EU 3 187449569 187449569 insertion of <=200bp - G exon_variant BRCA-EU 3 187449569 187449569 insertion of <=200bp - G frameshift_variant A104A? BRCA-EU 3 187450261 187450261 single base substitution G A downstream_gene_variant BRCA-EU 3 187450261 187450261 single base substitution G A intron_variant BRCA-EU 3 187450365 187450365 single base substitution G C downstream_gene_variant BRCA-EU 3 187450365 187450365 single base substitution G C intron_variant BRCA-EU 3 187450508 187450508 single base substitution G A downstream_gene_variant BRCA-EU 3 187450508 187450508 single base substitution G A intron_variant BRCA-EU 3 187453625 187453625 single base substitution T A downstream_gene_variant BRCA-EU 3 187453625 187453625 single base substitution T A intron_variant BRCA-EU 3 187453625 187453625 single base substitution T A upstream_gene_variant BRCA-EU 3 187453626 187453626 single base substitution A T downstream_gene_variant BRCA-EU 3 187453626 187453626 single base substitution A T intron_variant BRCA-EU 3 187453626 187453626 single base substitution A T upstream_gene_variant BRCA-EU 3 187453811 187453811 single base substitution G A downstream_gene_variant BRCA-EU 3 187453811 187453811 single base substitution G A intron_variant BRCA-EU 3 187453811 187453811 single base substitution G A upstream_gene_variant BRCA-EU 3 187455873 187455873 single base substitution C T intron_variant BRCA-EU 3 187455873 187455873 single base substitution C T upstream_gene_variant BRCA-EU 3 187455955 187455955 single base substitution A G intron_variant BRCA-EU 3 187455955 187455955 single base substitution A G upstream_gene_variant BRCA-EU 3 187456021 187456022 deletion of <=200bp CT - intron_variant BRCA-EU 3 187456021 187456022 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 3 187457009 187457009 single base substitution A C intron_variant BRCA-EU 3 187457009 187457009 single base substitution A C upstream_gene_variant BRCA-EU 3 187457478 187457478 single base substitution G A intron_variant BRCA-EU 3 187457478 187457478 single base substitution G A upstream_gene_variant BRCA-EU 3 187457942 187457942 single base substitution G C intron_variant BRCA-EU 3 187457942 187457942 single base substitution G C upstream_gene_variant BRCA-EU 3 187459059 187459059 single base substitution A G intron_variant BRCA-EU 3 187459059 187459059 single base substitution A G upstream_gene_variant BRCA-EU 3 187459188 187459188 single base substitution G A intron_variant BRCA-EU 3 187459188 187459188 single base substitution G A upstream_gene_variant BRCA-EU 3 187459496 187459496 single base substitution A G intron_variant BRCA-EU 3 187459496 187459496 single base substitution A G upstream_gene_variant BRCA-EU 3 187459854 187459854 single base substitution C A intron_variant BRCA-EU 3 187459854 187459854 single base substitution C A upstream_gene_variant BRCA-EU 3 187459911 187459911 single base substitution A G intron_variant BRCA-EU 3 187459911 187459911 single base substitution A G upstream_gene_variant BRCA-EU 3 187460374 187460374 single base substitution C T intron_variant BRCA-EU 3 187460374 187460374 single base substitution C T upstream_gene_variant BRCA-EU 3 187461290 187461290 single base substitution G C intron_variant BRCA-EU 3 187462739 187462739 single base substitution C G intron_variant BRCA-EU 3 187462914 187462914 insertion of <=200bp - TTTAT intron_variant BRCA-EU 3 187463103 187463103 single base substitution T A intron_variant BRCA-EU 3 187463223 187463223 single base substitution T G 5_prime_UTR_variant BRCA-EU 3 187463223 187463223 single base substitution T G exon_variant BRCA-EU 3 187463403 187463403 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 187463403 187463403 single base substitution G C upstream_gene_variant BRCA-EU 3 187463886 187463886 single base substitution C A upstream_gene_variant BRCA-EU 3 187463887 187463887 single base substitution T G upstream_gene_variant BRCA-EU 3 187464240 187464241 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 3 187464510 187464510 single base substitution G A upstream_gene_variant BRCA-EU 3 187465410 187465410 single base substitution A T upstream_gene_variant BRCA-EU 3 187466172 187466172 single base substitution T A upstream_gene_variant BRCA-EU 3 187467566 187467566 single base substitution T A upstream_gene_variant BRCA-EU 3 187468156 187468156 single base substitution G C upstream_gene_variant BRCA-FR 3 187435062 187435062 single base substitution G C downstream_gene_variant BRCA-FR 3 187438350 187438350 single base substitution G A downstream_gene_variant BRCA-FR 3 187438751 187438751 single base substitution G A downstream_gene_variant BRCA-FR 3 187441912 187441912 single base substitution G A downstream_gene_variant BRCA-FR 3 187441912 187441912 single base substitution G A intron_variant BRCA-FR 3 187447031 187447031 single base substitution G C 3_prime_UTR_variant BRCA-FR 3 187447031 187447031 single base substitution G C downstream_gene_variant BRCA-FR 3 187447031 187447031 single base substitution G C missense_variant Q388E 1162C>G BRCA-FR 3 187447031 187447031 single base substitution G C upstream_gene_variant BRCA-FR 3 187453811 187453811 single base substitution G A downstream_gene_variant BRCA-FR 3 187453811 187453811 single base substitution G A intron_variant BRCA-FR 3 187453811 187453811 single base substitution G A upstream_gene_variant BRCA-FR 3 187454476 187454476 single base substitution A T 5_prime_UTR_variant BRCA-FR 3 187454476 187454476 single base substitution A T exon_variant BRCA-FR 3 187454476 187454476 single base substitution A T intron_variant BRCA-FR 3 187454476 187454476 single base substitution A T upstream_gene_variant BRCA-FR 3 187459843 187459843 single base substitution T C intron_variant BRCA-FR 3 187459843 187459843 single base substitution T C upstream_gene_variant BRCA-FR 3 187468156 187468156 single base substitution G C upstream_gene_variant BRCA-KR 3 187442662 187442662 single base substitution G C exon_variant BRCA-KR 3 187442662 187442662 single base substitution G C intron_variant BRCA-UK 3 187441629 187441629 single base substitution G A downstream_gene_variant BRCA-UK 3 187441629 187441629 single base substitution G A intron_variant BRCA-US 3 187444543 187444543 single base substitution C T 3_prime_UTR_variant BRCA-US 3 187444543 187444543 single base substitution C T downstream_gene_variant BRCA-US 3 187444543 187444543 single base substitution C T intron_variant BRCA-US 3 187444543 187444543 single base substitution C T missense_variant A562T 1684G>A BRCA-US 3 187444543 187444543 single base substitution C T upstream_gene_variant BRCA-US 3 187446261 187446261 single base substitution G A 3_prime_UTR_variant BRCA-US 3 187446261 187446261 single base substitution G A downstream_gene_variant BRCA-US 3 187446261 187446261 single base substitution G A missense_variant T476M 1427C>T BRCA-US 3 187446261 187446261 single base substitution G A upstream_gene_variant BRCA-US 3 187447483 187447483 single base substitution G A 3_prime_UTR_variant BRCA-US 3 187447483 187447483 single base substitution G A downstream_gene_variant BRCA-US 3 187447483 187447483 single base substitution G A missense_variant P237L 710C>T BRCA-US 3 187447483 187447483 single base substitution G A upstream_gene_variant BRCA-US 3 187451419 187451419 single base substitution G C downstream_gene_variant BRCA-US 3 187451419 187451419 single base substitution G C exon_variant BRCA-US 3 187451419 187451419 single base substitution G C missense_variant N21K 63C>G BTCA-JP 3 187440561 187440561 single base substitution G A downstream_gene_variant BTCA-JP 3 187440561 187440561 single base substitution G A intron_variant BTCA-JP 3 187442688 187442688 single base substitution A C exon_variant BTCA-JP 3 187442688 187442688 single base substitution A C intron_variant BTCA-JP 3 187443576 187443576 single base substitution C T intron_variant BTCA-JP 3 187443576 187443576 single base substitution C T upstream_gene_variant BTCA-JP 3 187446104 187446104 single base substitution G A downstream_gene_variant BTCA-JP 3 187446104 187446104 single base substitution G A intron_variant BTCA-JP 3 187446104 187446104 single base substitution G A upstream_gene_variant BTCA-JP 3 187446261 187446261 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 187446261 187446261 single base substitution G A downstream_gene_variant BTCA-JP 3 187446261 187446261 single base substitution G A missense_variant T476M 1427C>T BTCA-JP 3 187446261 187446261 single base substitution G A upstream_gene_variant BTCA-JP 3 187447313 187447313 single base substitution A G 3_prime_UTR_variant BTCA-JP 3 187447313 187447313 single base substitution A G downstream_gene_variant BTCA-JP 3 187447313 187447313 single base substitution A G missense_variant F294L 880T>C BTCA-JP 3 187447313 187447313 single base substitution A G upstream_gene_variant BTCA-JP 3 187447819 187447819 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 187447819 187447819 deletion of <=200bp A - intron_variant BTCA-JP 3 187447819 187447819 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 187450280 187450280 single base substitution G A downstream_gene_variant BTCA-JP 3 187450280 187450280 single base substitution G A intron_variant BTCA-JP 3 187450320 187450320 single base substitution G T downstream_gene_variant BTCA-JP 3 187450320 187450320 single base substitution G T intron_variant CESC-US 3 187443293 187443293 deletion of <=200bp A - 3_prime_UTR_variant CESC-US 3 187443293 187443293 deletion of <=200bp A - exon_variant CESC-US 3 187443293 187443293 deletion of <=200bp A - frameshift_variant F555 CESC-US 3 187443293 187443293 deletion of <=200bp A - frameshift_variant F611 CESC-US 3 187443392 187443392 single base substitution G T 3_prime_UTR_variant CESC-US 3 187443392 187443392 single base substitution G T exon_variant CESC-US 3 187443392 187443392 single base substitution G T synonymous_variant I522I 1566C>A CESC-US 3 187443392 187443392 single base substitution G T synonymous_variant I578I 1734C>A CESC-US 3 187444680 187444680 single base substitution C T 3_prime_UTR_variant CESC-US 3 187444680 187444680 single base substitution C T downstream_gene_variant CESC-US 3 187444680 187444680 single base substitution C T intron_variant CESC-US 3 187444680 187444680 single base substitution C T missense_variant G516E 1547G>A CESC-US 3 187444680 187444680 single base substitution C T upstream_gene_variant CESC-US 3 187447542 187447542 single base substitution C T 3_prime_UTR_variant CESC-US 3 187447542 187447542 single base substitution C T downstream_gene_variant CESC-US 3 187447542 187447542 single base substitution C T synonymous_variant R217R 651G>A CESC-US 3 187447542 187447542 single base substitution C T upstream_gene_variant CESC-US 3 187451567 187451567 single base substitution G A downstream_gene_variant CESC-US 3 187451567 187451567 single base substitution G A intron_variant CLLE-ES 3 187461384 187461384 single base substitution C T intron_variant CLLE-ES 3 187461900 187461900 single base substitution G A intron_variant CLLE-ES 3 187461951 187461951 single base substitution C T intron_variant CLLE-ES 3 187461997 187461997 single base substitution C G intron_variant CLLE-ES 3 187462157 187462157 single base substitution G A intron_variant CLLE-ES 3 187462163 187462163 single base substitution G C intron_variant CLLE-ES 3 187462216 187462216 single base substitution T A intron_variant CLLE-ES 3 187462221 187462221 single base substitution T C intron_variant CLLE-ES 3 187462249 187462249 single base substitution A G intron_variant CLLE-ES 3 187462311 187462311 single base substitution G A intron_variant CLLE-ES 3 187462331 187462331 single base substitution A T intron_variant CLLE-ES 3 187462357 187462357 single base substitution T C intron_variant CLLE-ES 3 187462382 187462382 single base substitution A G intron_variant CLLE-ES 3 187462392 187462392 single base substitution T C intron_variant CLLE-ES 3 187462397 187462397 single base substitution T A intron_variant CLLE-ES 3 187462402 187462402 single base substitution T A intron_variant CLLE-ES 3 187462402 187462402 single base substitution T C intron_variant CLLE-ES 3 187462404 187462404 single base substitution T C intron_variant CLLE-ES 3 187462411 187462411 single base substitution T G intron_variant CLLE-ES 3 187462423 187462423 single base substitution T C intron_variant CLLE-ES 3 187462472 187462472 single base substitution C G intron_variant CLLE-ES 3 187462479 187462479 single base substitution G A intron_variant CLLE-ES 3 187462512 187462512 single base substitution C T intron_variant CLLE-ES 3 187462518 187462518 single base substitution T A intron_variant CLLE-ES 3 187462519 187462519 single base substitution T A intron_variant CLLE-ES 3 187462540 187462540 single base substitution G A intron_variant CLLE-ES 3 187462560 187462560 single base substitution A G intron_variant CLLE-ES 3 187462611 187462611 single base substitution A G intron_variant CLLE-ES 3 187462613 187462613 single base substitution T C intron_variant CLLE-ES 3 187462615 187462615 single base substitution T C intron_variant CLLE-ES 3 187462619 187462619 single base substitution A C intron_variant CLLE-ES 3 187462626 187462626 single base substitution A G intron_variant CLLE-ES 3 187462634 187462634 single base substitution A G intron_variant CLLE-ES 3 187462636 187462636 single base substitution A T intron_variant CLLE-ES 3 187462645 187462645 single base substitution C G intron_variant CLLE-ES 3 187462671 187462671 single base substitution C T intron_variant CLLE-ES 3 187462676 187462676 single base substitution C T intron_variant CLLE-ES 3 187462681 187462681 single base substitution G C intron_variant CLLE-ES 3 187462684 187462684 single base substitution G A intron_variant CLLE-ES 3 187462687 187462687 single base substitution G A intron_variant CLLE-ES 3 187462688 187462688 single base substitution C T intron_variant CLLE-ES 3 187462698 187462698 single base substitution G C intron_variant CLLE-ES 3 187462717 187462717 single base substitution C T intron_variant CLLE-ES 3 187462719 187462719 single base substitution C T intron_variant CLLE-ES 3 187462726 187462726 single base substitution G A intron_variant CLLE-ES 3 187462728 187462728 single base substitution C A intron_variant CLLE-ES 3 187462770 187462770 single base substitution A G intron_variant CLLE-ES 3 187462776 187462776 single base substitution G A intron_variant CLLE-ES 3 187462825 187462825 single base substitution C T intron_variant CLLE-ES 3 187462872 187462872 single base substitution A G intron_variant CLLE-ES 3 187462873 187462873 single base substitution A G intron_variant CLLE-ES 3 187462915 187462915 single base substitution A G intron_variant CLLE-ES 3 187462917 187462917 single base substitution T A intron_variant CLLE-ES 3 187462920 187462920 single base substitution T A intron_variant CLLE-ES 3 187462922 187462922 single base substitution A T intron_variant CLLE-ES 3 187462925 187462925 single base substitution A C intron_variant CLLE-ES 3 187462928 187462928 single base substitution T C intron_variant CLLE-ES 3 187462932 187462932 single base substitution A C intron_variant CLLE-ES 3 187462935 187462935 single base substitution C T intron_variant CLLE-ES 3 187462963 187462963 single base substitution A G intron_variant CLLE-ES 3 187462979 187462979 single base substitution T G intron_variant CLLE-ES 3 187462996 187462996 single base substitution G A intron_variant CLLE-ES 3 187462996 187462996 single base substitution G C intron_variant CLLE-ES 3 187462997 187462997 single base substitution C G intron_variant CLLE-ES 3 187463000 187463000 single base substitution G C intron_variant CLLE-ES 3 187463002 187463002 single base substitution A G intron_variant CLLE-ES 3 187463008 187463008 single base substitution A T intron_variant CLLE-ES 3 187463016 187463016 single base substitution A G intron_variant CLLE-ES 3 187463029 187463029 single base substitution T C intron_variant CLLE-ES 3 187463029 187463029 single base substitution T G intron_variant CLLE-ES 3 187463034 187463034 single base substitution A G intron_variant CLLE-ES 3 187463040 187463040 single base substitution A G intron_variant CLLE-ES 3 187463042 187463042 single base substitution A C intron_variant CLLE-ES 3 187463054 187463054 single base substitution C T intron_variant CLLE-ES 3 187463056 187463056 single base substitution A C intron_variant CLLE-ES 3 187463078 187463078 single base substitution A G intron_variant CLLE-ES 3 187463085 187463085 single base substitution A G intron_variant CLLE-ES 3 187463088 187463088 single base substitution T C intron_variant CLLE-ES 3 187463096 187463096 single base substitution A G intron_variant CLLE-ES 3 187463099 187463099 single base substitution A T intron_variant CLLE-ES 3 187463193 187463193 single base substitution A C intron_variant CLLE-ES 3 187463829 187463829 single base substitution G A upstream_gene_variant CLLE-ES 3 187463840 187463840 single base substitution A G upstream_gene_variant CLLE-ES 3 187464170 187464170 single base substitution G C upstream_gene_variant CLLE-ES 3 187466651 187466651 single base substitution A G upstream_gene_variant COAD-US 3 187442788 187442788 single base substitution G A 3_prime_UTR_variant COAD-US 3 187442788 187442788 single base substitution G A exon_variant COAD-US 3 187442788 187442788 single base substitution G A missense_variant R584W 1750C>T COAD-US 3 187442788 187442788 single base substitution G A missense_variant R640W 1918C>T COAD-US 3 187443314 187443314 single base substitution G A 3_prime_UTR_variant COAD-US 3 187443314 187443314 single base substitution G A exon_variant COAD-US 3 187443314 187443314 single base substitution G A synonymous_variant C548C 1644C>T COAD-US 3 187443314 187443314 single base substitution G A synonymous_variant C604C 1812C>T COAD-US 3 187443345 187443345 single base substitution C T 3_prime_UTR_variant COAD-US 3 187443345 187443345 single base substitution C T exon_variant COAD-US 3 187443345 187443345 single base substitution C T missense_variant R538Q 1613G>A COAD-US 3 187443345 187443345 single base substitution C T missense_variant R594Q 1781G>A COAD-US 3 187444677 187444677 single base substitution G A 3_prime_UTR_variant COAD-US 3 187444677 187444677 single base substitution G A downstream_gene_variant COAD-US 3 187444677 187444677 single base substitution G A intron_variant COAD-US 3 187444677 187444677 single base substitution G A missense_variant A517V 1550C>T COAD-US 3 187444677 187444677 single base substitution G A upstream_gene_variant COAD-US 3 187446211 187446211 single base substitution C T 3_prime_UTR_variant COAD-US 3 187446211 187446211 single base substitution C T downstream_gene_variant COAD-US 3 187446211 187446211 single base substitution C T missense_variant A493T 1477G>A COAD-US 3 187446211 187446211 single base substitution C T upstream_gene_variant COAD-US 3 187446895 187446895 single base substitution G A 3_prime_UTR_variant COAD-US 3 187446895 187446895 single base substitution G A downstream_gene_variant COAD-US 3 187446895 187446895 single base substitution G A missense_variant A433V 1298C>T COAD-US 3 187446895 187446895 single base substitution G A upstream_gene_variant COAD-US 3 187447235 187447235 insertion of <=200bp - G 3_prime_UTR_variant COAD-US 3 187447235 187447235 insertion of <=200bp - G downstream_gene_variant COAD-US 3 187447235 187447235 insertion of <=200bp - G frameshift_variant N320T? COAD-US 3 187447235 187447235 insertion of <=200bp - G upstream_gene_variant COAD-US 3 187447774 187447774 single base substitution C T 3_prime_UTR_variant COAD-US 3 187447774 187447774 single base substitution C T downstream_gene_variant COAD-US 3 187447774 187447774 single base substitution C T missense_variant R140H 419G>A COAD-US 3 187447774 187447774 single base substitution C T upstream_gene_variant COCA-CN 3 187443313 187443313 single base substitution C T 3_prime_UTR_variant COCA-CN 3 187443313 187443313 single base substitution C T exon_variant COCA-CN 3 187443313 187443313 single base substitution C T missense_variant E549K 1645G>A COCA-CN 3 187443313 187443313 single base substitution C T missense_variant E605K 1813G>A COCA-CN 3 187444696 187444696 single base substitution G A downstream_gene_variant COCA-CN 3 187444696 187444696 single base substitution G A intron_variant COCA-CN 3 187444696 187444696 single base substitution G A upstream_gene_variant COCA-CN 3 187447721 187447721 single base substitution G A 3_prime_UTR_variant COCA-CN 3 187447721 187447721 single base substitution G A downstream_gene_variant COCA-CN 3 187447721 187447721 single base substitution G A missense_variant R158W 472C>T COCA-CN 3 187447721 187447721 single base substitution G A upstream_gene_variant EOPC-DE 3 187457462 187457462 single base substitution C A intron_variant EOPC-DE 3 187457462 187457462 single base substitution C A upstream_gene_variant ESAD-UK 3 187437403 187437403 single base substitution A G downstream_gene_variant ESAD-UK 3 187440280 187440280 single base substitution G C 3_prime_UTR_variant ESAD-UK 3 187440280 187440280 single base substitution G C downstream_gene_variant ESAD-UK 3 187440280 187440280 single base substitution G C missense_variant T640S 1919C>G ESAD-UK 3 187440280 187440280 single base substitution G C missense_variant T696S 2087C>G ESAD-UK 3 187440334 187440334 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 187440334 187440334 single base substitution C T downstream_gene_variant ESAD-UK 3 187440334 187440334 single base substitution C T missense_variant R622H 1865G>A ESAD-UK 3 187440334 187440334 single base substitution C T missense_variant R678H 2033G>A ESAD-UK 3 187446312 187446312 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 187446312 187446312 single base substitution C T downstream_gene_variant ESAD-UK 3 187446312 187446312 single base substitution C T missense_variant R459H 1376G>A ESAD-UK 3 187446312 187446312 single base substitution C T upstream_gene_variant ESAD-UK 3 187446326 187446326 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 187446326 187446326 single base substitution C T downstream_gene_variant ESAD-UK 3 187446326 187446326 single base substitution C T missense_variant M454I 1362G>A ESAD-UK 3 187446326 187446326 single base substitution C T upstream_gene_variant ESAD-UK 3 187450989 187450989 single base substitution G T downstream_gene_variant ESAD-UK 3 187450989 187450989 single base substitution G T intron_variant ESAD-UK 3 187454440 187454440 single base substitution G T 5_prime_UTR_variant ESAD-UK 3 187454440 187454440 single base substitution G T exon_variant ESAD-UK 3 187454440 187454440 single base substitution G T intron_variant ESAD-UK 3 187454440 187454440 single base substitution G T upstream_gene_variant ESAD-UK 3 187454603 187454603 single base substitution C T 5_prime_UTR_variant ESAD-UK 3 187454603 187454603 single base substitution C T exon_variant ESAD-UK 3 187454603 187454603 single base substitution C T intron_variant ESAD-UK 3 187454603 187454603 single base substitution C T upstream_gene_variant ESAD-UK 3 187457474 187457474 single base substitution G A intron_variant ESAD-UK 3 187457474 187457474 single base substitution G A upstream_gene_variant ESAD-UK 3 187459558 187459558 single base substitution C T intron_variant ESAD-UK 3 187459558 187459558 single base substitution C T upstream_gene_variant ESAD-UK 3 187462903 187462903 single base substitution G A intron_variant ESAD-UK 3 187463308 187463308 single base substitution G T 5_prime_UTR_variant ESAD-UK 3 187463308 187463308 single base substitution G T upstream_gene_variant ESAD-UK 3 187463367 187463367 single base substitution A C 5_prime_UTR_variant ESAD-UK 3 187463367 187463367 single base substitution A C upstream_gene_variant ESCA-CN 3 187440506 187440506 single base substitution C A downstream_gene_variant ESCA-CN 3 187440506 187440506 single base substitution C A intron_variant ESCA-CN 3 187443185 187443185 single base substitution G A intron_variant ESCA-CN 3 187451422 187451422 single base substitution G A downstream_gene_variant ESCA-CN 3 187451422 187451422 single base substitution G A exon_variant ESCA-CN 3 187451422 187451422 single base substitution G A synonymous_variant L20L 60C>T GBM-US 3 187440292 187440292 single base substitution C T 3_prime_UTR_variant GBM-US 3 187440292 187440292 single base substitution C T downstream_gene_variant GBM-US 3 187440292 187440292 single base substitution C T missense_variant R636H 1907G>A GBM-US 3 187440292 187440292 single base substitution C T missense_variant R692H 2075G>A GBM-US 3 187442788 187442788 single base substitution G A 3_prime_UTR_variant GBM-US 3 187442788 187442788 single base substitution G A exon_variant GBM-US 3 187442788 187442788 single base substitution G A missense_variant R584W 1750C>T GBM-US 3 187442788 187442788 single base substitution G A missense_variant R640W 1918C>T GBM-US 3 187443315 187443315 single base substitution C T 3_prime_UTR_variant GBM-US 3 187443315 187443315 single base substitution C T exon_variant GBM-US 3 187443315 187443315 single base substitution C T missense_variant C548Y 1643G>A GBM-US 3 187443315 187443315 single base substitution C T missense_variant C604Y 1811G>A GBM-US 3 187447774 187447774 single base substitution C T 3_prime_UTR_variant GBM-US 3 187447774 187447774 single base substitution C T downstream_gene_variant GBM-US 3 187447774 187447774 single base substitution C T missense_variant R140H 419G>A GBM-US 3 187447774 187447774 single base substitution C T upstream_gene_variant KIRC-US 3 187443369 187443369 single base substitution G T 3_prime_UTR_variant KIRC-US 3 187443369 187443369 single base substitution G T exon_variant KIRC-US 3 187443369 187443369 single base substitution G T missense_variant P530Q 1589C>A KIRC-US 3 187443369 187443369 single base substitution G T missense_variant P586Q 1757C>A KIRC-US 3 187446247 187446247 single base substitution G A 3_prime_UTR_variant KIRC-US 3 187446247 187446247 single base substitution G A downstream_gene_variant KIRC-US 3 187446247 187446247 single base substitution G A stop_gained Q481* 1441C>T KIRC-US 3 187446247 187446247 single base substitution G A upstream_gene_variant KIRC-US 3 187446848 187446848 single base substitution T C 3_prime_UTR_variant KIRC-US 3 187446848 187446848 single base substitution T C downstream_gene_variant KIRC-US 3 187446848 187446848 single base substitution T C missense_variant I449V 1345A>G KIRC-US 3 187446848 187446848 single base substitution T C upstream_gene_variant KIRC-US 3 187447399 187447399 single base substitution A T 3_prime_UTR_variant KIRC-US 3 187447399 187447399 single base substitution A T downstream_gene_variant KIRC-US 3 187447399 187447399 single base substitution A T missense_variant I265N 794T>A KIRC-US 3 187447399 187447399 single base substitution A T upstream_gene_variant KIRC-US 3 187447718 187447718 single base substitution C A 3_prime_UTR_variant KIRC-US 3 187447718 187447718 single base substitution C A downstream_gene_variant KIRC-US 3 187447718 187447718 single base substitution C A missense_variant G159C 475G>T KIRC-US 3 187447718 187447718 single base substitution C A upstream_gene_variant LAML-KR 3 187450270 187450270 single base substitution C G downstream_gene_variant LAML-KR 3 187450270 187450270 single base substitution C G intron_variant LAML-KR 3 187461120 187461120 single base substitution T G intron_variant LGG-US 3 187447177 187447180 deletion of <=200bp CAGT - 3_prime_UTR_variant LGG-US 3 187447177 187447180 deletion of <=200bp CAGT - downstream_gene_variant LGG-US 3 187447177 187447180 deletion of <=200bp CAGT - frameshift_variant DC338 LGG-US 3 187447177 187447180 deletion of <=200bp CAGT - upstream_gene_variant LGG-US 3 187447676 187447676 single base substitution G A 3_prime_UTR_variant LGG-US 3 187447676 187447676 single base substitution G A downstream_gene_variant LGG-US 3 187447676 187447676 single base substitution G A missense_variant P173S 517C>T LGG-US 3 187447676 187447676 single base substitution G A upstream_gene_variant LGG-US 3 187449545 187449545 single base substitution A G 3_prime_UTR_variant LGG-US 3 187449545 187449545 single base substitution A G downstream_gene_variant LGG-US 3 187449545 187449545 single base substitution A G missense_variant L112P 335T>C LICA-CN 3 187443314 187443314 single base substitution G C 3_prime_UTR_variant LICA-CN 3 187443314 187443314 single base substitution G C exon_variant LICA-CN 3 187443314 187443314 single base substitution G C missense_variant C548W 1644C>G LICA-CN 3 187443314 187443314 single base substitution G C missense_variant C604W 1812C>G LICA-CN 3 187449707 187449707 single base substitution T C downstream_gene_variant LICA-CN 3 187449707 187449707 single base substitution T C intron_variant LICA-CN 3 187449707 187449707 single base substitution T C missense_variant Y58C 173A>G LICA-FR 3 187447005 187447005 single base substitution C T 3_prime_UTR_variant LICA-FR 3 187447005 187447005 single base substitution C T downstream_gene_variant LICA-FR 3 187447005 187447005 single base substitution C T synonymous_variant E396E 1188G>A LICA-FR 3 187447005 187447005 single base substitution C T upstream_gene_variant LIHC-US 3 187447378 187447378 single base substitution T A 3_prime_UTR_variant LIHC-US 3 187447378 187447378 single base substitution T A downstream_gene_variant LIHC-US 3 187447378 187447378 single base substitution T A missense_variant D272V 815A>T LIHC-US 3 187447378 187447378 single base substitution T A upstream_gene_variant LIHC-US 3 187447392 187447392 single base substitution T C 3_prime_UTR_variant LIHC-US 3 187447392 187447392 single base substitution T C downstream_gene_variant LIHC-US 3 187447392 187447392 single base substitution T C synonymous_variant E267E 801A>G LIHC-US 3 187447392 187447392 single base substitution T C upstream_gene_variant LIHC-US 3 187447680 187447680 single base substitution G A 3_prime_UTR_variant LIHC-US 3 187447680 187447680 single base substitution G A downstream_gene_variant LIHC-US 3 187447680 187447680 single base substitution G A synonymous_variant S171S 513C>T LIHC-US 3 187447680 187447680 single base substitution G A upstream_gene_variant LIHC-US 3 187449531 187449531 single base substitution C A 3_prime_UTR_variant LIHC-US 3 187449531 187449531 single base substitution C A downstream_gene_variant LIHC-US 3 187449531 187449531 single base substitution C A missense_variant V117F 349G>T LINC-JP 3 187439762 187439762 single base substitution T A 3_prime_UTR_variant LINC-JP 3 187439762 187439762 single base substitution T A downstream_gene_variant LINC-JP 3 187439764 187439764 single base substitution A T 3_prime_UTR_variant LINC-JP 3 187439764 187439764 single base substitution A T downstream_gene_variant LINC-JP 3 187441162 187441162 single base substitution T C downstream_gene_variant LINC-JP 3 187441162 187441162 single base substitution T C intron_variant LINC-JP 3 187444798 187444798 single base substitution T A downstream_gene_variant LINC-JP 3 187444798 187444798 single base substitution T A intron_variant LINC-JP 3 187444798 187444798 single base substitution T A upstream_gene_variant LINC-JP 3 187449677 187449677 single base substitution T C downstream_gene_variant LINC-JP 3 187449677 187449677 single base substitution T C intron_variant LINC-JP 3 187449677 187449677 single base substitution T C missense_variant N68S 203A>G LINC-JP 3 187451448 187451448 single base substitution T G downstream_gene_variant LINC-JP 3 187451448 187451448 single base substitution T G exon_variant LINC-JP 3 187451448 187451448 single base substitution T G missense_variant T12P 34A>C LINC-JP 3 187463351 187463351 single base substitution T C 5_prime_UTR_variant LINC-JP 3 187463351 187463351 single base substitution T C upstream_gene_variant LINC-JP 3 187464603 187464603 insertion of <=200bp - A upstream_gene_variant LINC-JP 3 187468379 187468379 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 187435670 187435670 single base substitution G C downstream_gene_variant LIRI-JP 3 187437402 187437402 single base substitution C G downstream_gene_variant LIRI-JP 3 187438020 187438020 single base substitution G C downstream_gene_variant LIRI-JP 3 187438894 187438894 single base substitution C T downstream_gene_variant LIRI-JP 3 187439764 187439764 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 187439764 187439764 single base substitution A T downstream_gene_variant LIRI-JP 3 187439927 187439927 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 187439927 187439927 single base substitution A G downstream_gene_variant LIRI-JP 3 187440795 187440795 single base substitution C A downstream_gene_variant LIRI-JP 3 187440795 187440795 single base substitution C A intron_variant LIRI-JP 3 187445923 187445923 single base substitution G A downstream_gene_variant LIRI-JP 3 187445923 187445923 single base substitution G A intron_variant LIRI-JP 3 187445923 187445923 single base substitution G A upstream_gene_variant LIRI-JP 3 187446549 187446549 single base substitution T C downstream_gene_variant LIRI-JP 3 187446549 187446549 single base substitution T C intron_variant LIRI-JP 3 187446549 187446549 single base substitution T C upstream_gene_variant LIRI-JP 3 187447867 187447867 single base substitution G T downstream_gene_variant LIRI-JP 3 187447867 187447867 single base substitution G T intron_variant LIRI-JP 3 187447867 187447867 single base substitution G T upstream_gene_variant LIRI-JP 3 187449049 187449049 single base substitution G C downstream_gene_variant LIRI-JP 3 187449049 187449049 single base substitution G C intron_variant LIRI-JP 3 187452159 187452159 single base substitution A G downstream_gene_variant LIRI-JP 3 187452159 187452159 single base substitution A G intron_variant LIRI-JP 3 187452590 187452590 single base substitution T C downstream_gene_variant LIRI-JP 3 187452590 187452590 single base substitution T C exon_variant LIRI-JP 3 187452590 187452590 single base substitution T C intron_variant LIRI-JP 3 187455976 187455976 single base substitution C T intron_variant LIRI-JP 3 187455976 187455976 single base substitution C T upstream_gene_variant LIRI-JP 3 187457008 187457008 single base substitution C A intron_variant LIRI-JP 3 187457008 187457008 single base substitution C A upstream_gene_variant LIRI-JP 3 187457527 187457527 single base substitution C A intron_variant LIRI-JP 3 187457527 187457527 single base substitution C A upstream_gene_variant LIRI-JP 3 187458092 187458092 insertion of <=200bp - A intron_variant LIRI-JP 3 187458092 187458092 insertion of <=200bp - A upstream_gene_variant LIRI-JP 3 187458159 187458159 single base substitution G T intron_variant LIRI-JP 3 187458159 187458159 single base substitution G T upstream_gene_variant LIRI-JP 3 187458160 187458160 single base substitution C T intron_variant LIRI-JP 3 187458160 187458160 single base substitution C T upstream_gene_variant LIRI-JP 3 187458344 187458344 single base substitution T C intron_variant LIRI-JP 3 187458344 187458344 single base substitution T C upstream_gene_variant LIRI-JP 3 187462251 187462251 single base substitution C A intron_variant LIRI-JP 3 187463402 187463402 single base substitution G A 5_prime_UTR_variant LIRI-JP 3 187463402 187463402 single base substitution G A upstream_gene_variant LIRI-JP 3 187465558 187465558 single base substitution T C upstream_gene_variant LIRI-JP 3 187465615 187465615 single base substitution C T upstream_gene_variant LIRI-JP 3 187467276 187467276 single base substitution A T upstream_gene_variant LIRI-JP 3 187467416 187467416 single base substitution T C upstream_gene_variant LIRI-JP 3 187468215 187468218 deletion of <=200bp AGAA - upstream_gene_variant LUSC-KR 3 187435823 187435823 single base substitution A G downstream_gene_variant LUSC-KR 3 187438387 187438387 single base substitution C A downstream_gene_variant LUSC-KR 3 187443190 187443190 single base substitution A G intron_variant LUSC-KR 3 187444732 187444732 single base substitution G A downstream_gene_variant LUSC-KR 3 187444732 187444732 single base substitution G A intron_variant LUSC-KR 3 187444732 187444732 single base substitution G A upstream_gene_variant LUSC-KR 3 187447665 187447665 single base substitution C A 3_prime_UTR_variant LUSC-KR 3 187447665 187447665 single base substitution C A downstream_gene_variant LUSC-KR 3 187447665 187447665 single base substitution C A missense_variant E176D 528G>T LUSC-KR 3 187447665 187447665 single base substitution C A upstream_gene_variant LUSC-KR 3 187459241 187459241 single base substitution G A intron_variant LUSC-KR 3 187459241 187459241 single base substitution G A upstream_gene_variant LUSC-KR 3 187460016 187460016 single base substitution C A intron_variant LUSC-KR 3 187460016 187460016 single base substitution C A upstream_gene_variant LUSC-KR 3 187466226 187466226 single base substitution G A upstream_gene_variant LUSC-US 3 187442826 187442826 single base substitution T C 3_prime_UTR_variant LUSC-US 3 187442826 187442826 single base substitution T C exon_variant LUSC-US 3 187442826 187442826 single base substitution T C missense_variant E571G 1712A>G LUSC-US 3 187442826 187442826 single base substitution T C missense_variant E627G 1880A>G LUSC-US 3 187447462 187447462 single base substitution C A 3_prime_UTR_variant LUSC-US 3 187447462 187447462 single base substitution C A downstream_gene_variant LUSC-US 3 187447462 187447462 single base substitution C A missense_variant R244L 731G>T LUSC-US 3 187447462 187447462 single base substitution C A upstream_gene_variant LUSC-US 3 187449662 187449662 single base substitution T C downstream_gene_variant LUSC-US 3 187449662 187449662 single base substitution T C intron_variant LUSC-US 3 187449662 187449662 single base substitution T C missense_variant N73S 218A>G LUSC-US 3 187449662 187449662 single base substitution T C splice_region_variant LUSC-US 3 187449664 187449664 single base substitution G A downstream_gene_variant LUSC-US 3 187449664 187449664 single base substitution G A intron_variant LUSC-US 3 187449664 187449664 single base substitution G A splice_region_variant LUSC-US 3 187449664 187449664 single base substitution G A synonymous_variant I72I 216C>T LUSC-US 3 187451445 187451445 single base substitution G C downstream_gene_variant LUSC-US 3 187451445 187451445 single base substitution G C exon_variant LUSC-US 3 187451445 187451445 single base substitution G C missense_variant R13G 37C>G MALY-DE 3 187434902 187434902 single base substitution C A downstream_gene_variant MALY-DE 3 187438858 187438867 deletion of <=200bp AACAAAACAA - downstream_gene_variant MALY-DE 3 187440362 187440362 single base substitution G A 3_prime_UTR_variant MALY-DE 3 187440362 187440362 single base substitution G A downstream_gene_variant MALY-DE 3 187440362 187440362 single base substitution G A missense_variant H613Y 1837C>T MALY-DE 3 187440362 187440362 single base substitution G A missense_variant H669Y 2005C>T MALY-DE 3 187443400 187443400 single base substitution A C 3_prime_UTR_variant MALY-DE 3 187443400 187443400 single base substitution A C exon_variant MALY-DE 3 187443400 187443400 single base substitution A C missense_variant C520G 1558T>G MALY-DE 3 187443400 187443400 single base substitution A C missense_variant C576G 1726T>G MALY-DE 3 187444862 187444862 single base substitution T A downstream_gene_variant MALY-DE 3 187444862 187444862 single base substitution T A intron_variant MALY-DE 3 187444862 187444862 single base substitution T A upstream_gene_variant MALY-DE 3 187449513 187449513 single base substitution T A 3_prime_UTR_variant MALY-DE 3 187449513 187449513 single base substitution T A downstream_gene_variant MALY-DE 3 187449513 187449513 single base substitution T A stop_gained K123* 367A>T MALY-DE 3 187452738 187452738 single base substitution A T downstream_gene_variant MALY-DE 3 187452738 187452738 single base substitution A T intron_variant MALY-DE 3 187452738 187452738 single base substitution A T upstream_gene_variant MALY-DE 3 187453022 187453022 single base substitution G A downstream_gene_variant MALY-DE 3 187453022 187453022 single base substitution G A intron_variant MALY-DE 3 187453022 187453022 single base substitution G A upstream_gene_variant MALY-DE 3 187453237 187453237 single base substitution C T downstream_gene_variant MALY-DE 3 187453237 187453237 single base substitution C T intron_variant MALY-DE 3 187453237 187453237 single base substitution C T upstream_gene_variant MALY-DE 3 187453533 187453533 single base substitution A G downstream_gene_variant MALY-DE 3 187453533 187453533 single base substitution A G intron_variant MALY-DE 3 187453533 187453533 single base substitution A G upstream_gene_variant MALY-DE 3 187455085 187455085 single base substitution G T intron_variant MALY-DE 3 187455085 187455085 single base substitution G T upstream_gene_variant MALY-DE 3 187455522 187455522 single base substitution C G 5_prime_UTR_variant MALY-DE 3 187455522 187455522 single base substitution C G intron_variant MALY-DE 3 187455522 187455522 single base substitution C G upstream_gene_variant MALY-DE 3 187456193 187456193 single base substitution C T intron_variant MALY-DE 3 187456193 187456193 single base substitution C T upstream_gene_variant MALY-DE 3 187456241 187456241 single base substitution G C intron_variant MALY-DE 3 187456241 187456241 single base substitution G C upstream_gene_variant MALY-DE 3 187456392 187456399 deletion of <=200bp ACCCCCGG - intron_variant MALY-DE 3 187456392 187456399 deletion of <=200bp ACCCCCGG - upstream_gene_variant MALY-DE 3 187456599 187456599 single base substitution C G intron_variant MALY-DE 3 187456599 187456599 single base substitution C G upstream_gene_variant MALY-DE 3 187457059 187457059 single base substitution G A intron_variant MALY-DE 3 187457059 187457059 single base substitution G A upstream_gene_variant MALY-DE 3 187458048 187458048 single base substitution C T intron_variant MALY-DE 3 187458048 187458048 single base substitution C T upstream_gene_variant MALY-DE 3 187458294 187458294 single base substitution G A intron_variant MALY-DE 3 187458294 187458294 single base substitution G A upstream_gene_variant MALY-DE 3 187458581 187458581 single base substitution G A intron_variant MALY-DE 3 187458581 187458581 single base substitution G A upstream_gene_variant MALY-DE 3 187458964 187458966 deletion of <=200bp TTT - intron_variant MALY-DE 3 187458964 187458966 deletion of <=200bp TTT - upstream_gene_variant MALY-DE 3 187458969 187458971 deletion of <=200bp TTT - intron_variant MALY-DE 3 187458969 187458971 deletion of <=200bp TTT - upstream_gene_variant MALY-DE 3 187459275 187459275 single base substitution G A intron_variant MALY-DE 3 187459275 187459275 single base substitution G A upstream_gene_variant MALY-DE 3 187459364 187459364 single base substitution C G intron_variant MALY-DE 3 187459364 187459364 single base substitution C G upstream_gene_variant MALY-DE 3 187459463 187459463 single base substitution G C intron_variant MALY-DE 3 187459463 187459463 single base substitution G C upstream_gene_variant MALY-DE 3 187459507 187459507 single base substitution G A intron_variant MALY-DE 3 187459507 187459507 single base substitution G A upstream_gene_variant MALY-DE 3 187459609 187459609 single base substitution G A intron_variant MALY-DE 3 187459609 187459609 single base substitution G A upstream_gene_variant MALY-DE 3 187459639 187459639 single base substitution C G intron_variant MALY-DE 3 187459639 187459639 single base substitution C G upstream_gene_variant MALY-DE 3 187459896 187459896 single base substitution T A intron_variant MALY-DE 3 187459896 187459896 single base substitution T A upstream_gene_variant MALY-DE 3 187460127 187460127 single base substitution G T intron_variant MALY-DE 3 187460127 187460127 single base substitution G T upstream_gene_variant MALY-DE 3 187460159 187460159 single base substitution T G intron_variant MALY-DE 3 187460159 187460159 single base substitution T G upstream_gene_variant MALY-DE 3 187460192 187460192 single base substitution C T intron_variant MALY-DE 3 187460192 187460192 single base substitution C T upstream_gene_variant MALY-DE 3 187460210 187460210 single base substitution T C intron_variant MALY-DE 3 187460210 187460210 single base substitution T C upstream_gene_variant MALY-DE 3 187460213 187460213 single base substitution C A intron_variant MALY-DE 3 187460213 187460213 single base substitution C A upstream_gene_variant MALY-DE 3 187460220 187460220 single base substitution G A intron_variant MALY-DE 3 187460220 187460220 single base substitution G A upstream_gene_variant MALY-DE 3 187460221 187460221 single base substitution C A intron_variant MALY-DE 3 187460221 187460221 single base substitution C A upstream_gene_variant MALY-DE 3 187460221 187460221 single base substitution C G intron_variant MALY-DE 3 187460221 187460221 single base substitution C G upstream_gene_variant MALY-DE 3 187460221 187460221 single base substitution C T intron_variant MALY-DE 3 187460221 187460221 single base substitution C T upstream_gene_variant MALY-DE 3 187460310 187460310 single base substitution G A intron_variant MALY-DE 3 187460310 187460310 single base substitution G A upstream_gene_variant MALY-DE 3 187460355 187460355 single base substitution T G intron_variant MALY-DE 3 187460355 187460355 single base substitution T G upstream_gene_variant MALY-DE 3 187460398 187460398 single base substitution C G intron_variant MALY-DE 3 187460398 187460398 single base substitution C G upstream_gene_variant MALY-DE 3 187460430 187460430 single base substitution G A intron_variant MALY-DE 3 187460430 187460430 single base substitution G A upstream_gene_variant MALY-DE 3 187460431 187460431 single base substitution C G intron_variant MALY-DE 3 187460431 187460431 single base substitution C G upstream_gene_variant MALY-DE 3 187460431 187460431 single base substitution C T intron_variant MALY-DE 3 187460431 187460431 single base substitution C T upstream_gene_variant MALY-DE 3 187460432 187460432 single base substitution T C intron_variant MALY-DE 3 187460432 187460432 single base substitution T C upstream_gene_variant MALY-DE 3 187460496 187460507 deletion of <=200bp CTGAAGACTCAA - intron_variant MALY-DE 3 187460496 187460507 deletion of <=200bp CTGAAGACTCAA - upstream_gene_variant MALY-DE 3 187460607 187460607 single base substitution A T intron_variant MALY-DE 3 187460607 187460607 single base substitution A T upstream_gene_variant MALY-DE 3 187460620 187460620 single base substitution C G intron_variant MALY-DE 3 187460620 187460620 single base substitution C G upstream_gene_variant MALY-DE 3 187460637 187460637 single base substitution C T intron_variant MALY-DE 3 187460637 187460637 single base substitution C T upstream_gene_variant MALY-DE 3 187460660 187460660 single base substitution G C intron_variant MALY-DE 3 187460660 187460660 single base substitution G C upstream_gene_variant MALY-DE 3 187460676 187460676 single base substitution G A intron_variant MALY-DE 3 187460676 187460676 single base substitution G A upstream_gene_variant MALY-DE 3 187460676 187460676 single base substitution G C intron_variant MALY-DE 3 187460676 187460676 single base substitution G C upstream_gene_variant MALY-DE 3 187460697 187460697 single base substitution G A intron_variant MALY-DE 3 187460697 187460697 single base substitution G A upstream_gene_variant MALY-DE 3 187460727 187460727 single base substitution G A intron_variant MALY-DE 3 187460727 187460727 single base substitution G A upstream_gene_variant MALY-DE 3 187460754 187460754 single base substitution G A intron_variant MALY-DE 3 187460756 187460756 single base substitution A T intron_variant MALY-DE 3 187460757 187460757 single base substitution G C intron_variant MALY-DE 3 187460824 187460824 single base substitution G A intron_variant MALY-DE 3 187460835 187460835 single base substitution A G intron_variant MALY-DE 3 187460839 187460839 single base substitution C T intron_variant MALY-DE 3 187460841 187460841 single base substitution C T intron_variant MALY-DE 3 187460864 187460864 single base substitution G A intron_variant MALY-DE 3 187460884 187460884 single base substitution A G intron_variant MALY-DE 3 187460909 187460909 single base substitution C G intron_variant MALY-DE 3 187460938 187460938 single base substitution C A intron_variant MALY-DE 3 187460991 187460991 single base substitution C G intron_variant MALY-DE 3 187461009 187461009 single base substitution C T intron_variant MALY-DE 3 187461014 187461014 single base substitution C T intron_variant MALY-DE 3 187461019 187461019 single base substitution A T intron_variant MALY-DE 3 187461021 187461021 single base substitution A C intron_variant MALY-DE 3 187461030 187461030 single base substitution G C intron_variant MALY-DE 3 187461036 187461036 single base substitution G C intron_variant MALY-DE 3 187461041 187461041 single base substitution G C intron_variant MALY-DE 3 187461042 187461042 single base substitution C T intron_variant MALY-DE 3 187461056 187461056 single base substitution C T intron_variant MALY-DE 3 187461074 187461074 single base substitution C T intron_variant MALY-DE 3 187461172 187461172 single base substitution G A intron_variant MALY-DE 3 187461191 187461191 single base substitution G A intron_variant MALY-DE 3 187461192 187461192 single base substitution C G intron_variant MALY-DE 3 187461234 187461234 single base substitution A G intron_variant MALY-DE 3 187461242 187461242 single base substitution G A intron_variant MALY-DE 3 187461266 187461266 single base substitution C T intron_variant MALY-DE 3 187461288 187461288 single base substitution A G intron_variant MALY-DE 3 187461303 187461303 single base substitution G T intron_variant MALY-DE 3 187461306 187461306 single base substitution G A intron_variant MALY-DE 3 187461318 187461318 single base substitution T C intron_variant MALY-DE 3 187461334 187461334 single base substitution G A intron_variant MALY-DE 3 187461335 187461335 single base substitution T C intron_variant MALY-DE 3 187461340 187461340 single base substitution T C intron_variant MALY-DE 3 187461365 187461365 single base substitution G A intron_variant MALY-DE 3 187461374 187461374 single base substitution C G intron_variant MALY-DE 3 187461395 187461395 single base substitution C T intron_variant MALY-DE 3 187461397 187461397 single base substitution A G intron_variant MALY-DE 3 187461417 187461417 single base substitution T A intron_variant MALY-DE 3 187461419 187461419 single base substitution A G intron_variant MALY-DE 3 187461435 187461435 single base substitution G T intron_variant MALY-DE 3 187461439 187461439 single base substitution C T intron_variant MALY-DE 3 187461450 187461450 single base substitution G A intron_variant MALY-DE 3 187461471 187461471 single base substitution G A intron_variant MALY-DE 3 187461503 187461503 single base substitution C T intron_variant MALY-DE 3 187461509 187461509 single base substitution C A intron_variant MALY-DE 3 187461545 187461545 single base substitution G A intron_variant MALY-DE 3 187461546 187461546 single base substitution C A intron_variant MALY-DE 3 187461546 187461546 single base substitution C G intron_variant MALY-DE 3 187461546 187461546 single base substitution C T intron_variant MALY-DE 3 187461566 187461566 single base substitution C G intron_variant MALY-DE 3 187461569 187461569 single base substitution A C intron_variant MALY-DE 3 187461574 187461574 single base substitution A T intron_variant MALY-DE 3 187461591 187461591 single base substitution G C intron_variant MALY-DE 3 187461610 187461610 single base substitution C T intron_variant MALY-DE 3 187461613 187461613 single base substitution C T intron_variant MALY-DE 3 187461622 187461622 single base substitution C G intron_variant MALY-DE 3 187461631 187461631 single base substitution G C intron_variant MALY-DE 3 187461636 187461636 single base substitution G C intron_variant MALY-DE 3 187461637 187461637 single base substitution C T intron_variant MALY-DE 3 187461653 187461653 single base substitution C T intron_variant MALY-DE 3 187461659 187461659 single base substitution A C intron_variant MALY-DE 3 187461661 187461661 single base substitution C G intron_variant MALY-DE 3 187461669 187461669 single base substitution C G intron_variant MALY-DE 3 187461670 187461670 single base substitution T G intron_variant MALY-DE 3 187461671 187461671 single base substitution A C intron_variant MALY-DE 3 187461671 187461671 single base substitution A T intron_variant MALY-DE 3 187461675 187461675 single base substitution T G intron_variant MALY-DE 3 187461686 187461686 single base substitution C G intron_variant MALY-DE 3 187461690 187461690 single base substitution C T intron_variant MALY-DE 3 187461692 187461692 single base substitution A G intron_variant MALY-DE 3 187461694 187461694 single base substitution G C intron_variant MALY-DE 3 187461697 187461697 single base substitution C G intron_variant MALY-DE 3 187461697 187461697 single base substitution C T intron_variant MALY-DE 3 187461700 187461700 single base substitution C T intron_variant MALY-DE 3 187461717 187461718 deletion of <=200bp CG - intron_variant MALY-DE 3 187461719 187461719 single base substitution C T intron_variant MALY-DE 3 187461722 187461722 single base substitution C A intron_variant MALY-DE 3 187461722 187461722 single base substitution C T intron_variant MALY-DE 3 187461733 187461733 single base substitution G C intron_variant MALY-DE 3 187461735 187461735 single base substitution T C intron_variant MALY-DE 3 187461744 187461744 single base substitution C G intron_variant MALY-DE 3 187461744 187461744 single base substitution C T intron_variant MALY-DE 3 187461754 187461754 single base substitution A G intron_variant MALY-DE 3 187461757 187461757 single base substitution G C intron_variant MALY-DE 3 187461766 187461766 single base substitution T A intron_variant MALY-DE 3 187461767 187461767 single base substitution C A intron_variant MALY-DE 3 187461767 187461767 single base substitution C G intron_variant MALY-DE 3 187461767 187461767 single base substitution C T intron_variant MALY-DE 3 187461777 187461777 single base substitution G A intron_variant MALY-DE 3 187461782 187461782 single base substitution G A intron_variant MALY-DE 3 187461791 187461791 single base substitution G A intron_variant MALY-DE 3 187461794 187461794 single base substitution C A intron_variant MALY-DE 3 187461801 187461801 single base substitution T G intron_variant MALY-DE 3 187461803 187461803 single base substitution G A intron_variant MALY-DE 3 187461805 187461805 single base substitution G A intron_variant MALY-DE 3 187461818 187461818 single base substitution T A intron_variant MALY-DE 3 187461819 187461819 single base substitution T C intron_variant MALY-DE 3 187461820 187461820 single base substitution C T intron_variant MALY-DE 3 187461831 187461831 single base substitution A C intron_variant MALY-DE 3 187461832 187461832 single base substitution G A intron_variant MALY-DE 3 187461832 187461832 single base substitution G C intron_variant MALY-DE 3 187461833 187461833 single base substitution G A intron_variant MALY-DE 3 187461841 187461841 single base substitution C G intron_variant MALY-DE 3 187461869 187461869 single base substitution A C intron_variant MALY-DE 3 187461872 187461872 single base substitution C T intron_variant MALY-DE 3 187461874 187461874 single base substitution C T intron_variant MALY-DE 3 187461881 187461881 single base substitution G A intron_variant MALY-DE 3 187461882 187461882 single base substitution C T intron_variant MALY-DE 3 187461884 187461884 single base substitution G C intron_variant MALY-DE 3 187461887 187461887 single base substitution C T intron_variant MALY-DE 3 187461888 187461888 single base substitution C A intron_variant MALY-DE 3 187461888 187461888 single base substitution C T intron_variant MALY-DE 3 187461889 187461889 single base substitution C T intron_variant MALY-DE 3 187461891 187461891 single base substitution T A intron_variant MALY-DE 3 187461894 187461894 single base substitution T A intron_variant MALY-DE 3 187461896 187461896 single base substitution C G intron_variant MALY-DE 3 187461900 187461900 single base substitution G A intron_variant MALY-DE 3 187461900 187461900 single base substitution G C intron_variant MALY-DE 3 187461901 187461901 single base substitution C G intron_variant MALY-DE 3 187461901 187461901 single base substitution C T intron_variant MALY-DE 3 187461904 187461904 single base substitution G A intron_variant MALY-DE 3 187461904 187461904 single base substitution G C intron_variant MALY-DE 3 187461907 187461907 single base substitution C A intron_variant MALY-DE 3 187461908 187461908 single base substitution C A intron_variant MALY-DE 3 187461910 187461910 single base substitution T C intron_variant MALY-DE 3 187461912 187461912 single base substitution G A intron_variant MALY-DE 3 187461912 187461912 single base substitution G C intron_variant MALY-DE 3 187461912 187461912 single base substitution G T intron_variant MALY-DE 3 187461916 187461916 single base substitution A C intron_variant MALY-DE 3 187461916 187461920 deletion of <=200bp AAAAT - intron_variant MALY-DE 3 187461917 187461917 single base substitution A T intron_variant MALY-DE 3 187461920 187461920 single base substitution T A intron_variant MALY-DE 3 187461922 187461922 single base substitution A G intron_variant MALY-DE 3 187461925 187461925 single base substitution T A intron_variant MALY-DE 3 187461926 187461926 single base substitution A T intron_variant MALY-DE 3 187461927 187461927 single base substitution A T intron_variant MALY-DE 3 187461929 187461929 single base substitution A G intron_variant MALY-DE 3 187461932 187461932 single base substitution T C intron_variant MALY-DE 3 187461933 187461933 single base substitution A C intron_variant MALY-DE 3 187461934 187461934 single base substitution G A intron_variant MALY-DE 3 187461934 187461934 single base substitution G C intron_variant MALY-DE 3 187461934 187461934 single base substitution G T intron_variant MALY-DE 3 187461935 187461935 single base substitution G A intron_variant MALY-DE 3 187461935 187461935 single base substitution G C intron_variant MALY-DE 3 187461936 187461936 single base substitution A C intron_variant MALY-DE 3 187461947 187461947 single base substitution A G intron_variant MALY-DE 3 187461951 187461951 single base substitution C G intron_variant MALY-DE 3 187461957 187461957 single base substitution G C intron_variant MALY-DE 3 187461965 187461965 deletion of <=200bp C - intron_variant MALY-DE 3 187461967 187461967 single base substitution C G intron_variant MALY-DE 3 187461967 187461967 single base substitution C T intron_variant MALY-DE 3 187461968 187461968 single base substitution A G intron_variant MALY-DE 3 187461975 187461997 deletion of <=200bp CGCAGCGCCCAAAATACAAACAC - intron_variant MALY-DE 3 187461989 187461989 single base substitution T A intron_variant MALY-DE 3 187461989 187461989 single base substitution T C intron_variant MALY-DE 3 187461991 187461991 single base substitution C G intron_variant MALY-DE 3 187461993 187461993 single base substitution A G intron_variant MALY-DE 3 187461995 187461995 single base substitution C T intron_variant MALY-DE 3 187462000 187462000 single base substitution C T intron_variant MALY-DE 3 187462014 187462014 single base substitution C T intron_variant MALY-DE 3 187462023 187462023 single base substitution T C intron_variant MALY-DE 3 187462030 187462030 single base substitution T A intron_variant MALY-DE 3 187462037 187462037 single base substitution A C intron_variant MALY-DE 3 187462043 187462043 single base substitution T C intron_variant MALY-DE 3 187462052 187462052 single base substitution G A intron_variant MALY-DE 3 187462052 187462052 single base substitution G C intron_variant MALY-DE 3 187462063 187462063 single base substitution T C intron_variant MALY-DE 3 187462064 187462064 single base substitution C T intron_variant MALY-DE 3 187462065 187462065 single base substitution C T intron_variant MALY-DE 3 187462070 187462070 single base substitution G A intron_variant MALY-DE 3 187462082 187462082 single base substitution G T intron_variant MALY-DE 3 187462090 187462090 single base substitution G A intron_variant MALY-DE 3 187462091 187462091 single base substitution G T intron_variant MALY-DE 3 187462093 187462093 single base substitution G T intron_variant MALY-DE 3 187462094 187462094 single base substitution C T intron_variant MALY-DE 3 187462100 187462100 single base substitution G A intron_variant MALY-DE 3 187462106 187462106 single base substitution C G intron_variant MALY-DE 3 187462108 187462108 single base substitution T C intron_variant MALY-DE 3 187462109 187462109 single base substitution T C intron_variant MALY-DE 3 187462111 187462111 single base substitution C T intron_variant MALY-DE 3 187462115 187462115 single base substitution C A intron_variant MALY-DE 3 187462116 187462116 single base substitution C G intron_variant MALY-DE 3 187462128 187462128 single base substitution C T intron_variant MALY-DE 3 187462133 187462133 single base substitution T C intron_variant MALY-DE 3 187462135 187462135 single base substitution C A intron_variant MALY-DE 3 187462135 187462135 single base substitution C T intron_variant MALY-DE 3 187462142 187462142 single base substitution C T intron_variant MALY-DE 3 187462144 187462145 deletion of <=200bp GT - intron_variant MALY-DE 3 187462153 187462153 single base substitution C A intron_variant MALY-DE 3 187462154 187462154 single base substitution T C intron_variant MALY-DE 3 187462157 187462157 single base substitution G A intron_variant MALY-DE 3 187462159 187462159 single base substitution A G intron_variant MALY-DE 3 187462163 187462163 single base substitution G A intron_variant MALY-DE 3 187462163 187462163 single base substitution G C intron_variant MALY-DE 3 187462163 187462163 single base substitution G T intron_variant MALY-DE 3 187462164 187462164 single base substitution C A intron_variant MALY-DE 3 187462164 187462164 single base substitution C G intron_variant MALY-DE 3 187462164 187462164 single base substitution C T intron_variant MALY-DE 3 187462166 187462166 single base substitution G C intron_variant MALY-DE 3 187462170 187462170 single base substitution G A intron_variant MALY-DE 3 187462181 187462181 deletion of <=200bp G - intron_variant MALY-DE 3 187462181 187462181 single base substitution G C intron_variant MALY-DE 3 187462185 187462185 single base substitution C G intron_variant MALY-DE 3 187462185 187462185 single base substitution C T intron_variant MALY-DE 3 187462186 187462186 single base substitution C A intron_variant MALY-DE 3 187462191 187462191 single base substitution T C intron_variant MALY-DE 3 187462193 187462193 single base substitution C A intron_variant MALY-DE 3 187462205 187462205 single base substitution C G intron_variant MALY-DE 3 187462206 187462206 single base substitution C T intron_variant MALY-DE 3 187462207 187462207 single base substitution A G intron_variant MALY-DE 3 187462213 187462213 single base substitution G A intron_variant MALY-DE 3 187462214 187462214 single base substitution A C intron_variant MALY-DE 3 187462215 187462215 single base substitution A G intron_variant MALY-DE 3 187462216 187462216 single base substitution T G intron_variant MALY-DE 3 187462218 187462218 single base substitution A C intron_variant MALY-DE 3 187462226 187462226 single base substitution A G intron_variant MALY-DE 3 187462234 187462234 single base substitution A G intron_variant MALY-DE 3 187462235 187462235 single base substitution C G intron_variant MALY-DE 3 187462235 187462235 single base substitution C T intron_variant MALY-DE 3 187462238 187462238 single base substitution C T intron_variant MALY-DE 3 187462239 187462239 single base substitution C A intron_variant MALY-DE 3 187462239 187462239 single base substitution C G intron_variant MALY-DE 3 187462250 187462250 single base substitution G A intron_variant MALY-DE 3 187462250 187462250 single base substitution G C intron_variant MALY-DE 3 187462250 187462250 single base substitution G T intron_variant MALY-DE 3 187462251 187462251 single base substitution C G intron_variant MALY-DE 3 187462258 187462258 single base substitution A G intron_variant MALY-DE 3 187462272 187462272 single base substitution G T intron_variant MALY-DE 3 187462275 187462275 single base substitution A G intron_variant MALY-DE 3 187462276 187462276 single base substitution C T intron_variant MALY-DE 3 187462284 187462284 single base substitution C T intron_variant MALY-DE 3 187462286 187462286 single base substitution C G intron_variant MALY-DE 3 187462286 187462286 single base substitution C T intron_variant MALY-DE 3 187462287 187462287 single base substitution T C intron_variant MALY-DE 3 187462290 187462290 single base substitution G A intron_variant MALY-DE 3 187462290 187462290 single base substitution G C intron_variant MALY-DE 3 187462298 187462298 single base substitution T A intron_variant MALY-DE 3 187462300 187462300 single base substitution G A intron_variant MALY-DE 3 187462300 187462300 single base substitution G C intron_variant MALY-DE 3 187462301 187462301 single base substitution G A intron_variant MALY-DE 3 187462305 187462305 single base substitution A G intron_variant MALY-DE 3 187462311 187462311 single base substitution G A intron_variant MALY-DE 3 187462311 187462311 single base substitution G T intron_variant MALY-DE 3 187462314 187462314 single base substitution C G intron_variant MALY-DE 3 187462318 187462318 single base substitution A G intron_variant MALY-DE 3 187462321 187462321 single base substitution G A intron_variant MALY-DE 3 187462324 187462324 single base substitution A G intron_variant MALY-DE 3 187462325 187462325 single base substitution T A intron_variant MALY-DE 3 187462327 187462327 single base substitution G A intron_variant MALY-DE 3 187462327 187462327 single base substitution G C intron_variant MALY-DE 3 187462330 187462330 single base substitution G C intron_variant MALY-DE 3 187462334 187462334 single base substitution C G intron_variant MALY-DE 3 187462337 187462337 single base substitution T A intron_variant MALY-DE 3 187462337 187462337 single base substitution T C intron_variant MALY-DE 3 187462338 187462338 single base substitution A G intron_variant MALY-DE 3 187462339 187462339 single base substitution C T intron_variant MALY-DE 3 187462340 187462340 single base substitution T C intron_variant MALY-DE 3 187462341 187462341 single base substitution T C intron_variant MALY-DE 3 187462343 187462343 single base substitution A C intron_variant MALY-DE 3 187462344 187462345 deletion of <=200bp TC - intron_variant MALY-DE 3 187462345 187462345 single base substitution C T intron_variant MALY-DE 3 187462346 187462346 single base substitution T G intron_variant MALY-DE 3 187462348 187462348 single base substitution A T intron_variant MALY-DE 3 187462353 187462353 single base substitution G A intron_variant MALY-DE 3 187462355 187462355 deletion of <=200bp T - intron_variant MALY-DE 3 187462359 187462359 single base substitution T A intron_variant MALY-DE 3 187462370 187462370 single base substitution A C intron_variant MALY-DE 3 187462372 187462372 single base substitution A T intron_variant MALY-DE 3 187462373 187462373 single base substitution A T intron_variant MALY-DE 3 187462375 187462375 single base substitution A G intron_variant MALY-DE 3 187462376 187462376 single base substitution A G intron_variant MALY-DE 3 187462377 187462377 single base substitution C G intron_variant MALY-DE 3 187462381 187462381 single base substitution A G intron_variant MALY-DE 3 187462382 187462382 single base substitution A G intron_variant MALY-DE 3 187462383 187462383 single base substitution C G intron_variant MALY-DE 3 187462384 187462384 single base substitution C G intron_variant MALY-DE 3 187462384 187462384 single base substitution C T intron_variant MALY-DE 3 187462388 187462388 single base substitution A G intron_variant MALY-DE 3 187462391 187462391 single base substitution G A intron_variant MALY-DE 3 187462391 187462391 single base substitution G C intron_variant MALY-DE 3 187462396 187462396 single base substitution C G intron_variant MALY-DE 3 187462396 187462396 single base substitution C T intron_variant MALY-DE 3 187462397 187462397 single base substitution T G intron_variant MALY-DE 3 187462403 187462403 single base substitution T G intron_variant MALY-DE 3 187462404 187462404 single base substitution T C intron_variant MALY-DE 3 187462405 187462405 single base substitution T C intron_variant MALY-DE 3 187462406 187462406 single base substitution T C intron_variant MALY-DE 3 187462417 187462417 single base substitution T C intron_variant MALY-DE 3 187462419 187462419 single base substitution T C intron_variant MALY-DE 3 187462423 187462423 deletion of <=200bp T - intron_variant MALY-DE 3 187462427 187462427 single base substitution G A intron_variant MALY-DE 3 187462434 187462434 single base substitution G A intron_variant MALY-DE 3 187462439 187462439 single base substitution G A intron_variant MALY-DE 3 187462439 187462439 single base substitution G T intron_variant MALY-DE 3 187462441 187462441 single base substitution A G intron_variant MALY-DE 3 187462444 187462444 single base substitution C G intron_variant MALY-DE 3 187462447 187462447 single base substitution A C intron_variant MALY-DE 3 187462449 187462449 single base substitution A T intron_variant MALY-DE 3 187462455 187462455 single base substitution A G intron_variant MALY-DE 3 187462465 187462465 single base substitution A G intron_variant MALY-DE 3 187462466 187462466 single base substitution A C intron_variant MALY-DE 3 187462472 187462472 single base substitution C T intron_variant MALY-DE 3 187462475 187462475 single base substitution G C intron_variant MALY-DE 3 187462483 187462483 single base substitution A C intron_variant MALY-DE 3 187462487 187462487 single base substitution A G intron_variant MALY-DE 3 187462492 187462492 single base substitution G A intron_variant MALY-DE 3 187462495 187462495 single base substitution G A intron_variant MALY-DE 3 187462496 187462496 single base substitution C T intron_variant MALY-DE 3 187462501 187462501 single base substitution C A intron_variant MALY-DE 3 187462504 187462504 single base substitution T C intron_variant MALY-DE 3 187462508 187462508 single base substitution C A intron_variant MALY-DE 3 187462508 187462508 single base substitution C T intron_variant MALY-DE 3 187462512 187462512 single base substitution C T intron_variant MALY-DE 3 187462517 187462517 single base substitution G A intron_variant MALY-DE 3 187462517 187462517 single base substitution G C intron_variant MALY-DE 3 187462520 187462520 single base substitution A G intron_variant MALY-DE 3 187462521 187462521 single base substitution C G intron_variant MALY-DE 3 187462521 187462521 single base substitution C T intron_variant MALY-DE 3 187462522 187462522 single base substitution C A intron_variant MALY-DE 3 187462522 187462522 single base substitution C G intron_variant MALY-DE 3 187462525 187462525 single base substitution G T intron_variant MALY-DE 3 187462526 187462526 single base substitution A C intron_variant MALY-DE 3 187462528 187462528 single base substitution G C intron_variant MALY-DE 3 187462539 187462539 single base substitution G C intron_variant MALY-DE 3 187462540 187462540 single base substitution G A intron_variant MALY-DE 3 187462540 187462540 single base substitution G T intron_variant MALY-DE 3 187462546 187462546 single base substitution A G intron_variant MALY-DE 3 187462550 187462550 single base substitution A C intron_variant MALY-DE 3 187462559 187462559 single base substitution G C intron_variant MALY-DE 3 187462562 187462562 single base substitution A G intron_variant MALY-DE 3 187462567 187462567 single base substitution G A intron_variant MALY-DE 3 187462569 187462569 single base substitution A G intron_variant MALY-DE 3 187462570 187462570 single base substitution G C intron_variant MALY-DE 3 187462571 187462571 single base substitution G A intron_variant MALY-DE 3 187462580 187462580 single base substitution C T intron_variant MALY-DE 3 187462586 187462586 single base substitution C G intron_variant MALY-DE 3 187462590 187462590 single base substitution G C intron_variant MALY-DE 3 187462592 187462592 single base substitution G C intron_variant MALY-DE 3 187462595 187462595 single base substitution A C intron_variant MALY-DE 3 187462600 187462600 single base substitution G A intron_variant MALY-DE 3 187462600 187462600 single base substitution G C intron_variant MALY-DE 3 187462601 187462601 single base substitution C A intron_variant MALY-DE 3 187462601 187462601 single base substitution C G intron_variant MALY-DE 3 187462609 187462609 single base substitution G A intron_variant MALY-DE 3 187462610 187462610 single base substitution C A intron_variant MALY-DE 3 187462612 187462612 single base substitution G A intron_variant MALY-DE 3 187462614 187462614 single base substitution T G intron_variant MALY-DE 3 187462616 187462616 single base substitution G C intron_variant MALY-DE 3 187462617 187462617 single base substitution C G intron_variant MALY-DE 3 187462617 187462617 single base substitution C T intron_variant MALY-DE 3 187462619 187462619 single base substitution A G intron_variant MALY-DE 3 187462620 187462620 single base substitution G A intron_variant MALY-DE 3 187462621 187462621 single base substitution C T intron_variant MALY-DE 3 187462624 187462624 single base substitution G C intron_variant MALY-DE 3 187462625 187462625 single base substitution A C intron_variant MALY-DE 3 187462627 187462627 single base substitution A G intron_variant MALY-DE 3 187462628 187462628 single base substitution A G intron_variant MALY-DE 3 187462633 187462633 single base substitution G A intron_variant MALY-DE 3 187462633 187462633 single base substitution G T intron_variant MALY-DE 3 187462634 187462634 deletion of <=200bp A - intron_variant MALY-DE 3 187462637 187462637 single base substitution A G intron_variant MALY-DE 3 187462639 187462639 single base substitution A C intron_variant MALY-DE 3 187462640 187462640 single base substitution C G intron_variant MALY-DE 3 187462641 187462641 single base substitution A C intron_variant MALY-DE 3 187462642 187462642 single base substitution C G intron_variant MALY-DE 3 187462643 187462643 single base substitution A C intron_variant MALY-DE 3 187462643 187462643 single base substitution A G intron_variant MALY-DE 3 187462651 187462651 single base substitution G C intron_variant MALY-DE 3 187462653 187462653 single base substitution A G intron_variant MALY-DE 3 187462653 187462653 single base substitution A T intron_variant MALY-DE 3 187462655 187462655 single base substitution C A intron_variant MALY-DE 3 187462655 187462655 single base substitution C G intron_variant MALY-DE 3 187462655 187462655 single base substitution C T intron_variant MALY-DE 3 187462656 187462656 single base substitution C G intron_variant MALY-DE 3 187462656 187462656 single base substitution C T intron_variant MALY-DE 3 187462659 187462659 single base substitution A G intron_variant MALY-DE 3 187462660 187462660 single base substitution G C intron_variant MALY-DE 3 187462662 187462662 single base substitution G A intron_variant MALY-DE 3 187462662 187462662 single base substitution G C intron_variant MALY-DE 3 187462663 187462663 single base substitution A G intron_variant MALY-DE 3 187462665 187462665 single base substitution C T intron_variant MALY-DE 3 187462667 187462667 single base substitution C G intron_variant MALY-DE 3 187462669 187462669 single base substitution A T intron_variant MALY-DE 3 187462671 187462671 single base substitution C T intron_variant MALY-DE 3 187462675 187462675 single base substitution A T intron_variant MALY-DE 3 187462676 187462676 single base substitution C A intron_variant MALY-DE 3 187462676 187462676 single base substitution C T intron_variant MALY-DE 3 187462677 187462677 single base substitution G A intron_variant MALY-DE 3 187462678 187462678 single base substitution C G intron_variant MALY-DE 3 187462678 187462678 single base substitution C T intron_variant MALY-DE 3 187462679 187462691 deletion of <=200bp AAGCAGCAGCAGA - intron_variant MALY-DE 3 187462680 187462680 single base substitution A G intron_variant MALY-DE 3 187462681 187462681 single base substitution G C intron_variant MALY-DE 3 187462682 187462682 single base substitution C T intron_variant MALY-DE 3 187462683 187462683 single base substitution A C intron_variant MALY-DE 3 187462684 187462684 deletion of <=200bp G - intron_variant MALY-DE 3 187462684 187462684 single base substitution G A intron_variant MALY-DE 3 187462684 187462684 single base substitution G C intron_variant MALY-DE 3 187462685 187462685 single base substitution C A intron_variant MALY-DE 3 187462685 187462685 single base substitution C G intron_variant MALY-DE 3 187462685 187462685 single base substitution C T intron_variant MALY-DE 3 187462686 187462686 single base substitution A T intron_variant MALY-DE 3 187462687 187462687 single base substitution G A intron_variant MALY-DE 3 187462688 187462688 single base substitution C T intron_variant MALY-DE 3 187462690 187462690 single base substitution G A intron_variant MALY-DE 3 187462690 187462690 single base substitution G C intron_variant MALY-DE 3 187462692 187462692 single base substitution A G intron_variant MALY-DE 3 187462693 187462693 single base substitution A G intron_variant MALY-DE 3 187462694 187462694 deletion of <=200bp G - intron_variant MALY-DE 3 187462694 187462694 single base substitution G A intron_variant MALY-DE 3 187462695 187462695 single base substitution A C intron_variant MALY-DE 3 187462696 187462696 single base substitution G A intron_variant MALY-DE 3 187462696 187462696 single base substitution G C intron_variant MALY-DE 3 187462697 187462697 single base substitution C G intron_variant MALY-DE 3 187462697 187462697 single base substitution C T intron_variant MALY-DE 3 187462700 187462700 single base substitution G A intron_variant MALY-DE 3 187462700 187462700 single base substitution G C intron_variant MALY-DE 3 187462702 187462702 single base substitution G A intron_variant MALY-DE 3 187462702 187462702 single base substitution G C intron_variant MALY-DE 3 187462703 187462703 single base substitution C T intron_variant MALY-DE 3 187462704 187462704 single base substitution G T intron_variant MALY-DE 3 187462713 187462713 single base substitution C T intron_variant MALY-DE 3 187462717 187462717 single base substitution C G intron_variant MALY-DE 3 187462717 187462717 single base substitution C T intron_variant MALY-DE 3 187462719 187462719 single base substitution C G intron_variant MALY-DE 3 187462719 187462719 single base substitution C T intron_variant MALY-DE 3 187462720 187462720 single base substitution T C intron_variant MALY-DE 3 187462721 187462721 single base substitution C T intron_variant MALY-DE 3 187462731 187462731 single base substitution G C intron_variant MALY-DE 3 187462733 187462733 single base substitution G A intron_variant MALY-DE 3 187462736 187462736 single base substitution A G intron_variant MALY-DE 3 187462742 187462742 single base substitution C A intron_variant MALY-DE 3 187462742 187462742 single base substitution C T intron_variant MALY-DE 3 187462747 187462747 single base substitution A C intron_variant MALY-DE 3 187462748 187462748 single base substitution G C intron_variant MALY-DE 3 187462749 187462749 single base substitution A T intron_variant MALY-DE 3 187462750 187462750 single base substitution C G intron_variant MALY-DE 3 187462752 187462752 single base substitution A G intron_variant MALY-DE 3 187462752 187462752 single base substitution A T intron_variant MALY-DE 3 187462759 187462759 single base substitution A G intron_variant MALY-DE 3 187462761 187462761 single base substitution C T intron_variant MALY-DE 3 187462763 187462763 insertion of <=200bp - C intron_variant MALY-DE 3 187462769 187462769 single base substitution A C intron_variant MALY-DE 3 187462770 187462770 single base substitution A G intron_variant MALY-DE 3 187462771 187462771 single base substitution G A intron_variant MALY-DE 3 187462771 187462771 single base substitution G C intron_variant MALY-DE 3 187462771 187462771 single base substitution G T intron_variant MALY-DE 3 187462772 187462772 single base substitution C G intron_variant MALY-DE 3 187462772 187462772 single base substitution C T intron_variant MALY-DE 3 187462776 187462776 single base substitution G C intron_variant MALY-DE 3 187462776 187462776 single base substitution G T intron_variant MALY-DE 3 187462777 187462777 single base substitution T C intron_variant MALY-DE 3 187462777 187462777 single base substitution T G intron_variant MALY-DE 3 187462780 187462780 single base substitution C A intron_variant MALY-DE 3 187462784 187462784 single base substitution C T intron_variant MALY-DE 3 187462788 187462788 single base substitution C G intron_variant MALY-DE 3 187462791 187462791 single base substitution C T intron_variant MALY-DE 3 187462793 187462793 single base substitution C G intron_variant MALY-DE 3 187462797 187462797 single base substitution C T intron_variant MALY-DE 3 187462806 187462806 single base substitution A G intron_variant MALY-DE 3 187462808 187462808 single base substitution T C intron_variant MALY-DE 3 187462808 187462808 single base substitution T G intron_variant MALY-DE 3 187462810 187462810 single base substitution C G intron_variant MALY-DE 3 187462811 187462811 single base substitution C T intron_variant MALY-DE 3 187462818 187462818 single base substitution T C intron_variant MALY-DE 3 187462818 187462818 single base substitution T G intron_variant MALY-DE 3 187462820 187462820 single base substitution C T intron_variant MALY-DE 3 187462823 187462823 single base substitution T C intron_variant MALY-DE 3 187462824 187462824 single base substitution C G intron_variant MALY-DE 3 187462825 187462825 single base substitution C T intron_variant MALY-DE 3 187462831 187462831 single base substitution C G intron_variant MALY-DE 3 187462831 187462831 single base substitution C T intron_variant MALY-DE 3 187462836 187462836 single base substitution T C intron_variant MALY-DE 3 187462838 187462838 single base substitution C T intron_variant MALY-DE 3 187462840 187462840 single base substitution A G intron_variant MALY-DE 3 187462845 187462845 single base substitution C G intron_variant MALY-DE 3 187462845 187462845 single base substitution C T intron_variant MALY-DE 3 187462848 187462848 single base substitution A G intron_variant MALY-DE 3 187462848 187462848 single base substitution A T intron_variant MALY-DE 3 187462849 187462849 single base substitution A G intron_variant MALY-DE 3 187462850 187462850 single base substitution A C intron_variant MALY-DE 3 187462851 187462851 single base substitution C G intron_variant MALY-DE 3 187462852 187462852 single base substitution A G intron_variant MALY-DE 3 187462856 187462856 single base substitution C T intron_variant MALY-DE 3 187462858 187462858 single base substitution A G intron_variant MALY-DE 3 187462859 187462859 single base substitution G C intron_variant MALY-DE 3 187462862 187462862 single base substitution A C intron_variant MALY-DE 3 187462868 187462868 single base substitution G C intron_variant MALY-DE 3 187462870 187462870 single base substitution A T intron_variant MALY-DE 3 187462873 187462873 single base substitution A G intron_variant MALY-DE 3 187462884 187462884 single base substitution A G intron_variant MALY-DE 3 187462884 187462884 single base substitution A T intron_variant MALY-DE 3 187462888 187462888 single base substitution G A intron_variant MALY-DE 3 187462893 187462893 single base substitution T C intron_variant MALY-DE 3 187462895 187462895 single base substitution C A intron_variant MALY-DE 3 187462897 187462897 single base substitution C G intron_variant MALY-DE 3 187462897 187462897 single base substitution C T intron_variant MALY-DE 3 187462907 187462907 single base substitution A G intron_variant MALY-DE 3 187462910 187462910 single base substitution A G intron_variant MALY-DE 3 187462910 187462910 single base substitution A T intron_variant MALY-DE 3 187462915 187462915 single base substitution A T intron_variant MALY-DE 3 187462916 187462916 single base substitution A T intron_variant MALY-DE 3 187462917 187462917 single base substitution T A intron_variant MALY-DE 3 187462918 187462918 single base substitution A G intron_variant MALY-DE 3 187462920 187462920 single base substitution T A intron_variant MALY-DE 3 187462921 187462921 single base substitution A C intron_variant MALY-DE 3 187462922 187462922 single base substitution A G intron_variant MALY-DE 3 187462923 187462923 single base substitution A G intron_variant MALY-DE 3 187462924 187462924 single base substitution T A intron_variant MALY-DE 3 187462926 187462926 single base substitution C G intron_variant MALY-DE 3 187462930 187462930 single base substitution A G intron_variant MALY-DE 3 187462931 187462931 single base substitution C G intron_variant MALY-DE 3 187462931 187462931 single base substitution C T intron_variant MALY-DE 3 187462932 187462932 single base substitution A C intron_variant MALY-DE 3 187462933 187462933 single base substitution A C intron_variant MALY-DE 3 187462935 187462935 single base substitution C G intron_variant MALY-DE 3 187462935 187462935 single base substitution C T intron_variant MALY-DE 3 187462936 187462936 single base substitution T C intron_variant MALY-DE 3 187462937 187462937 single base substitution A G intron_variant MALY-DE 3 187462937 187462937 single base substitution A T intron_variant MALY-DE 3 187462942 187462942 single base substitution C G intron_variant MALY-DE 3 187462942 187462942 single base substitution C T intron_variant MALY-DE 3 187462944 187462944 single base substitution A G intron_variant MALY-DE 3 187462944 187462944 single base substitution A T intron_variant MALY-DE 3 187462945 187462945 single base substitution T C intron_variant MALY-DE 3 187462946 187462946 single base substitution G A intron_variant MALY-DE 3 187462947 187462947 single base substitution G A intron_variant MALY-DE 3 187462948 187462948 single base substitution T G intron_variant MALY-DE 3 187462950 187462950 single base substitution G A intron_variant MALY-DE 3 187462956 187462957 deletion of <=200bp AC - intron_variant MALY-DE 3 187462957 187462957 single base substitution C T intron_variant MALY-DE 3 187462965 187462965 single base substitution T C intron_variant MALY-DE 3 187462967 187462967 single base substitution A T intron_variant MALY-DE 3 187462969 187462969 single base substitution C G intron_variant MALY-DE 3 187462974 187462974 single base substitution G C intron_variant MALY-DE 3 187462976 187462976 single base substitution A C intron_variant MALY-DE 3 187462976 187462976 single base substitution A T intron_variant MALY-DE 3 187462979 187462979 single base substitution T C intron_variant MALY-DE 3 187462979 187462979 single base substitution T G intron_variant MALY-DE 3 187462980 187462980 single base substitution A C intron_variant MALY-DE 3 187462980 187462980 single base substitution A G intron_variant MALY-DE 3 187462981 187462981 single base substitution T G intron_variant MALY-DE 3 187462984 187462984 single base substitution T C intron_variant MALY-DE 3 187462987 187462987 single base substitution C T intron_variant MALY-DE 3 187462988 187462988 single base substitution A G intron_variant MALY-DE 3 187462991 187462991 single base substitution T A intron_variant MALY-DE 3 187462992 187462992 single base substitution G C intron_variant MALY-DE 3 187462993 187462993 single base substitution A G intron_variant MALY-DE 3 187462996 187462996 single base substitution G A intron_variant MALY-DE 3 187462996 187462996 single base substitution G C intron_variant MALY-DE 3 187462997 187462997 single base substitution C G intron_variant MALY-DE 3 187462997 187462997 single base substitution C T intron_variant MALY-DE 3 187462998 187462998 single base substitution T C intron_variant MALY-DE 3 187462998 187462998 single base substitution T G intron_variant MALY-DE 3 187463000 187463000 single base substitution G A intron_variant MALY-DE 3 187463000 187463000 single base substitution G C intron_variant MALY-DE 3 187463001 187463001 single base substitution A G intron_variant MALY-DE 3 187463002 187463002 single base substitution A G intron_variant MALY-DE 3 187463003 187463003 single base substitution T G intron_variant MALY-DE 3 187463004 187463004 single base substitution A T intron_variant MALY-DE 3 187463007 187463007 single base substitution T G intron_variant MALY-DE 3 187463008 187463008 single base substitution A G intron_variant MALY-DE 3 187463011 187463011 single base substitution T A intron_variant MALY-DE 3 187463012 187463012 single base substitution A G intron_variant MALY-DE 3 187463013 187463013 single base substitution T A intron_variant MALY-DE 3 187463014 187463014 single base substitution A G intron_variant MALY-DE 3 187463015 187463015 single base substitution T C intron_variant MALY-DE 3 187463017 187463017 single base substitution C T intron_variant MALY-DE 3 187463019 187463019 single base substitution T G intron_variant MALY-DE 3 187463023 187463023 single base substitution T C intron_variant MALY-DE 3 187463024 187463024 single base substitution A G intron_variant MALY-DE 3 187463028 187463028 single base substitution A G intron_variant MALY-DE 3 187463029 187463029 single base substitution T C intron_variant MALY-DE 3 187463031 187463031 single base substitution G A intron_variant MALY-DE 3 187463031 187463031 single base substitution G C intron_variant MALY-DE 3 187463034 187463034 single base substitution A G intron_variant MALY-DE 3 187463035 187463035 single base substitution C A intron_variant MALY-DE 3 187463035 187463035 single base substitution C T intron_variant MALY-DE 3 187463036 187463036 single base substitution A C intron_variant MALY-DE 3 187463036 187463036 single base substitution A G intron_variant MALY-DE 3 187463039 187463039 single base substitution T A intron_variant MALY-DE 3 187463039 187463039 single base substitution T C intron_variant MALY-DE 3 187463040 187463040 single base substitution A C intron_variant MALY-DE 3 187463043 187463043 single base substitution A G intron_variant MALY-DE 3 187463043 187463043 single base substitution A T intron_variant MALY-DE 3 187463046 187463046 single base substitution C G intron_variant MALY-DE 3 187463048 187463048 single base substitution T C intron_variant MALY-DE 3 187463052 187463052 single base substitution G C intron_variant MALY-DE 3 187463055 187463055 single base substitution A T intron_variant MALY-DE 3 187463057 187463057 single base substitution A G intron_variant MALY-DE 3 187463059 187463059 single base substitution C G intron_variant MALY-DE 3 187463059 187463059 single base substitution C T intron_variant MALY-DE 3 187463061 187463061 single base substitution T C intron_variant MALY-DE 3 187463068 187463068 single base substitution A T intron_variant MALY-DE 3 187463071 187463071 single base substitution G C intron_variant MALY-DE 3 187463073 187463073 deletion of <=200bp G - intron_variant MALY-DE 3 187463074 187463074 single base substitution G A intron_variant MALY-DE 3 187463074 187463074 single base substitution G T intron_variant MALY-DE 3 187463075 187463076 deletion of <=200bp AA - intron_variant MALY-DE 3 187463079 187463079 single base substitution A C intron_variant MALY-DE 3 187463080 187463080 single base substitution A G intron_variant MALY-DE 3 187463082 187463082 single base substitution A G intron_variant MALY-DE 3 187463086 187463086 single base substitution A T intron_variant MALY-DE 3 187463087 187463087 single base substitution T A intron_variant MALY-DE 3 187463093 187463093 single base substitution G C intron_variant MALY-DE 3 187463094 187463094 single base substitution G A intron_variant MALY-DE 3 187463095 187463095 single base substitution T G intron_variant MALY-DE 3 187463096 187463096 single base substitution A G intron_variant MALY-DE 3 187463096 187463096 single base substitution A T intron_variant MALY-DE 3 187463097 187463097 single base substitution A T intron_variant MALY-DE 3 187463098 187463098 single base substitution A C intron_variant MALY-DE 3 187463101 187463101 single base substitution A C intron_variant MALY-DE 3 187463105 187463105 single base substitution A C intron_variant MALY-DE 3 187463107 187463112 deletion of <=200bp CATGAG - intron_variant MALY-DE 3 187463108 187463108 single base substitution A T intron_variant MALY-DE 3 187463109 187463109 single base substitution T A intron_variant MALY-DE 3 187463110 187463110 single base substitution G C intron_variant MALY-DE 3 187463112 187463112 single base substitution G C intron_variant MALY-DE 3 187463132 187463132 single base substitution A G intron_variant MALY-DE 3 187463161 187463161 single base substitution T C intron_variant MALY-DE 3 187463165 187463165 single base substitution A G intron_variant MALY-DE 3 187463165 187463165 single base substitution A T intron_variant MALY-DE 3 187463169 187463169 single base substitution G A intron_variant MALY-DE 3 187463182 187463182 single base substitution C T intron_variant MALY-DE 3 187463191 187463191 single base substitution T A intron_variant MALY-DE 3 187463192 187463192 single base substitution A C intron_variant MALY-DE 3 187463192 187463192 single base substitution A T intron_variant MALY-DE 3 187463196 187463196 single base substitution A C splice_donor_variant MALY-DE 3 187463212 187463212 single base substitution T C 5_prime_UTR_variant MALY-DE 3 187463212 187463212 single base substitution T C exon_variant MALY-DE 3 187463215 187463215 single base substitution C G 5_prime_UTR_variant MALY-DE 3 187463215 187463215 single base substitution C G exon_variant MALY-DE 3 187463216 187463216 single base substitution T G 5_prime_UTR_variant MALY-DE 3 187463216 187463216 single base substitution T G exon_variant MALY-DE 3 187463217 187463217 single base substitution A T 5_prime_UTR_variant MALY-DE 3 187463217 187463217 single base substitution A T exon_variant MALY-DE 3 187463220 187463220 single base substitution A G 5_prime_UTR_variant MALY-DE 3 187463220 187463220 single base substitution A G exon_variant MALY-DE 3 187463231 187463231 single base substitution T C 5_prime_UTR_variant MALY-DE 3 187463231 187463231 single base substitution T C exon_variant MALY-DE 3 187463231 187463231 single base substitution T C upstream_gene_variant MALY-DE 3 187463239 187463239 single base substitution T C 5_prime_UTR_variant MALY-DE 3 187463239 187463239 single base substitution T C exon_variant MALY-DE 3 187463239 187463239 single base substitution T C upstream_gene_variant MALY-DE 3 187463242 187463242 single base substitution A G 5_prime_UTR_variant MALY-DE 3 187463242 187463242 single base substitution A G exon_variant MALY-DE 3 187463242 187463242 single base substitution A G upstream_gene_variant MALY-DE 3 187463252 187463252 single base substitution G C 5_prime_UTR_variant MALY-DE 3 187463252 187463252 single base substitution G C exon_variant MALY-DE 3 187463252 187463252 single base substitution G C upstream_gene_variant MALY-DE 3 187463255 187463255 single base substitution C T 5_prime_UTR_variant MALY-DE 3 187463255 187463255 single base substitution C T exon_variant MALY-DE 3 187463255 187463255 single base substitution C T upstream_gene_variant MALY-DE 3 187463261 187463261 single base substitution A T 5_prime_UTR_variant MALY-DE 3 187463261 187463261 single base substitution A T upstream_gene_variant MALY-DE 3 187463270 187463270 single base substitution G A 5_prime_UTR_variant MALY-DE 3 187463270 187463270 single base substitution G A upstream_gene_variant MALY-DE 3 187463271 187463271 single base substitution C G 5_prime_UTR_variant MALY-DE 3 187463271 187463271 single base substitution C G upstream_gene_variant MALY-DE 3 187463275 187463275 single base substitution A C 5_prime_UTR_variant MALY-DE 3 187463275 187463275 single base substitution A C upstream_gene_variant MALY-DE 3 187463277 187463277 single base substitution T A 5_prime_UTR_variant MALY-DE 3 187463277 187463277 single base substitution T A upstream_gene_variant MALY-DE 3 187463283 187463283 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 3 187463283 187463283 single base substitution A C upstream_gene_variant MALY-DE 3 187463287 187463287 single base substitution T A 5_prime_UTR_variant MALY-DE 3 187463287 187463287 single base substitution T A upstream_gene_variant MALY-DE 3 187463289 187463289 single base substitution A C 5_prime_UTR_variant MALY-DE 3 187463289 187463289 single base substitution A C upstream_gene_variant MALY-DE 3 187463566 187463566 single base substitution T C upstream_gene_variant MALY-DE 3 187463581 187463581 single base substitution C G upstream_gene_variant MALY-DE 3 187463715 187463715 single base substitution A T upstream_gene_variant MALY-DE 3 187463716 187463716 single base substitution A T upstream_gene_variant MALY-DE 3 187463746 187463746 single base substitution A C upstream_gene_variant MALY-DE 3 187463782 187463782 single base substitution G A upstream_gene_variant MALY-DE 3 187463788 187463788 single base substitution G C upstream_gene_variant MALY-DE 3 187463794 187463794 single base substitution T G upstream_gene_variant MALY-DE 3 187463804 187463804 single base substitution T C upstream_gene_variant MALY-DE 3 187463816 187463816 single base substitution C T upstream_gene_variant MALY-DE 3 187463817 187463817 single base substitution T C upstream_gene_variant MALY-DE 3 187463856 187463856 single base substitution T C upstream_gene_variant MALY-DE 3 187463866 187463866 single base substitution G C upstream_gene_variant MALY-DE 3 187463886 187463886 single base substitution C T upstream_gene_variant MALY-DE 3 187463889 187463889 single base substitution T C upstream_gene_variant MALY-DE 3 187463898 187463898 single base substitution T A upstream_gene_variant MALY-DE 3 187463899 187463899 single base substitution T C upstream_gene_variant MALY-DE 3 187463900 187463900 single base substitution A G upstream_gene_variant MALY-DE 3 187463919 187463919 single base substitution T C upstream_gene_variant MALY-DE 3 187463929 187463929 single base substitution T C upstream_gene_variant MALY-DE 3 187463940 187463940 single base substitution C T upstream_gene_variant MALY-DE 3 187463987 187463987 single base substitution T G upstream_gene_variant MALY-DE 3 187463990 187463990 single base substitution A G upstream_gene_variant MALY-DE 3 187464000 187464000 single base substitution C G upstream_gene_variant MALY-DE 3 187464017 187464017 single base substitution G A upstream_gene_variant MALY-DE 3 187464044 187464044 single base substitution A G upstream_gene_variant MALY-DE 3 187464058 187464058 single base substitution T C upstream_gene_variant MALY-DE 3 187464070 187464070 single base substitution G A upstream_gene_variant MALY-DE 3 187464070 187464070 single base substitution G C upstream_gene_variant MALY-DE 3 187464093 187464093 single base substitution C G upstream_gene_variant MALY-DE 3 187464105 187464105 single base substitution G C upstream_gene_variant MALY-DE 3 187464106 187464106 single base substitution C T upstream_gene_variant MALY-DE 3 187464107 187464107 single base substitution G A upstream_gene_variant MALY-DE 3 187464117 187464117 single base substitution T G upstream_gene_variant MALY-DE 3 187464118 187464118 single base substitution G A upstream_gene_variant MALY-DE 3 187464121 187464121 single base substitution T A upstream_gene_variant MALY-DE 3 187464124 187464124 single base substitution T A upstream_gene_variant MALY-DE 3 187464132 187464132 single base substitution C G upstream_gene_variant MALY-DE 3 187464134 187464134 single base substitution A T upstream_gene_variant MALY-DE 3 187464136 187464136 single base substitution T A upstream_gene_variant MALY-DE 3 187464136 187464136 single base substitution T C upstream_gene_variant MALY-DE 3 187464137 187464137 single base substitution A G upstream_gene_variant MALY-DE 3 187464137 187464137 single base substitution A T upstream_gene_variant MALY-DE 3 187464138 187464138 single base substitution C A upstream_gene_variant MALY-DE 3 187464141 187464141 single base substitution T C upstream_gene_variant MALY-DE 3 187464142 187464142 single base substitution T C upstream_gene_variant MALY-DE 3 187464151 187464151 single base substitution C G upstream_gene_variant MALY-DE 3 187464151 187464151 single base substitution C T upstream_gene_variant MALY-DE 3 187464153 187464153 single base substitution T A upstream_gene_variant MALY-DE 3 187464155 187464155 single base substitution A C upstream_gene_variant MALY-DE 3 187464195 187464195 single base substitution T C upstream_gene_variant MALY-DE 3 187464200 187464200 single base substitution T C upstream_gene_variant MALY-DE 3 187464221 187464221 single base substitution T C upstream_gene_variant MALY-DE 3 187464223 187464223 single base substitution C G upstream_gene_variant MALY-DE 3 187464245 187464245 single base substitution C T upstream_gene_variant MALY-DE 3 187464255 187464255 single base substitution T C upstream_gene_variant MALY-DE 3 187464290 187464290 single base substitution T G upstream_gene_variant MALY-DE 3 187464292 187464292 single base substitution T A upstream_gene_variant MALY-DE 3 187464322 187464322 single base substitution G C upstream_gene_variant MALY-DE 3 187464363 187464363 single base substitution A T upstream_gene_variant MALY-DE 3 187464442 187464442 single base substitution C T upstream_gene_variant MALY-DE 3 187464443 187464443 single base substitution T C upstream_gene_variant MALY-DE 3 187464459 187464459 single base substitution G A upstream_gene_variant MALY-DE 3 187464459 187464459 single base substitution G C upstream_gene_variant MALY-DE 3 187464534 187464534 single base substitution C T upstream_gene_variant MALY-DE 3 187464675 187464675 single base substitution C T upstream_gene_variant MALY-DE 3 187464747 187464747 single base substitution C T upstream_gene_variant MALY-DE 3 187464777 187464777 single base substitution A T upstream_gene_variant MALY-DE 3 187464952 187464952 single base substitution A G upstream_gene_variant MALY-DE 3 187465315 187465315 single base substitution T A upstream_gene_variant MALY-DE 3 187465321 187465321 single base substitution T G upstream_gene_variant MALY-DE 3 187465324 187465324 single base substitution A C upstream_gene_variant MALY-DE 3 187467071 187467071 single base substitution T A upstream_gene_variant MALY-DE 3 187467667 187467667 single base substitution C T upstream_gene_variant MALY-DE 3 187467955 187467955 single base substitution G A upstream_gene_variant MALY-DE 3 187467985 187467985 single base substitution C G upstream_gene_variant MALY-DE 3 187468084 187468084 single base substitution G A upstream_gene_variant MALY-DE 3 187468087 187468087 single base substitution T G upstream_gene_variant MALY-DE 3 187468272 187468272 single base substitution A G upstream_gene_variant MALY-DE 3 187468296 187468296 single base substitution T C upstream_gene_variant MALY-DE 3 187468320 187468320 single base substitution A T upstream_gene_variant MALY-DE 3 187468326 187468326 single base substitution G C upstream_gene_variant MELA-AU 3 187434178 187434178 single base substitution G A downstream_gene_variant MELA-AU 3 187434183 187434183 single base substitution C T downstream_gene_variant MELA-AU 3 187434402 187434402 single base substitution C T downstream_gene_variant MELA-AU 3 187434551 187434551 single base substitution G A downstream_gene_variant MELA-AU 3 187434924 187434924 single base substitution C T downstream_gene_variant MELA-AU 3 187435054 187435054 single base substitution C T downstream_gene_variant MELA-AU 3 187435186 187435186 single base substitution C T downstream_gene_variant MELA-AU 3 187435272 187435272 single base substitution G A downstream_gene_variant MELA-AU 3 187435273 187435273 single base substitution G A downstream_gene_variant MELA-AU 3 187435288 187435288 single base substitution G A downstream_gene_variant MELA-AU 3 187435823 187435823 single base substitution A G downstream_gene_variant MELA-AU 3 187435880 187435880 single base substitution C T downstream_gene_variant MELA-AU 3 187435914 187435915 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 187436069 187436069 single base substitution G A downstream_gene_variant MELA-AU 3 187436302 187436302 single base substitution T C downstream_gene_variant MELA-AU 3 187436377 187436377 single base substitution A G downstream_gene_variant MELA-AU 3 187436395 187436395 single base substitution C T downstream_gene_variant MELA-AU 3 187436568 187436568 single base substitution A T downstream_gene_variant MELA-AU 3 187436738 187436738 single base substitution G A downstream_gene_variant MELA-AU 3 187437299 187437299 single base substitution C T downstream_gene_variant MELA-AU 3 187437433 187437433 single base substitution C T downstream_gene_variant MELA-AU 3 187438421 187438421 deletion of <=200bp G - downstream_gene_variant MELA-AU 3 187438907 187438908 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 3 187439452 187439452 single base substitution A C 3_prime_UTR_variant MELA-AU 3 187439452 187439452 single base substitution A C downstream_gene_variant MELA-AU 3 187439746 187439746 single base substitution T A 3_prime_UTR_variant MELA-AU 3 187439746 187439746 single base substitution T A downstream_gene_variant MELA-AU 3 187440703 187440703 single base substitution G A downstream_gene_variant MELA-AU 3 187440703 187440703 single base substitution G A intron_variant MELA-AU 3 187440773 187440773 single base substitution T C downstream_gene_variant MELA-AU 3 187440773 187440773 single base substitution T C intron_variant MELA-AU 3 187440835 187440835 single base substitution G A downstream_gene_variant MELA-AU 3 187440835 187440835 single base substitution G A intron_variant MELA-AU 3 187440923 187440923 single base substitution G A downstream_gene_variant MELA-AU 3 187440923 187440923 single base substitution G A intron_variant MELA-AU 3 187441178 187441178 single base substitution A T downstream_gene_variant MELA-AU 3 187441178 187441178 single base substitution A T intron_variant MELA-AU 3 187441197 187441197 single base substitution G A downstream_gene_variant MELA-AU 3 187441197 187441197 single base substitution G A intron_variant MELA-AU 3 187441216 187441216 single base substitution G A downstream_gene_variant MELA-AU 3 187441216 187441216 single base substitution G A intron_variant MELA-AU 3 187441218 187441218 single base substitution A G downstream_gene_variant MELA-AU 3 187441218 187441218 single base substitution A G intron_variant MELA-AU 3 187441267 187441267 single base substitution A T downstream_gene_variant MELA-AU 3 187441267 187441267 single base substitution A T intron_variant MELA-AU 3 187442550 187442550 single base substitution C G exon_variant MELA-AU 3 187442550 187442550 single base substitution C G intron_variant MELA-AU 3 187443070 187443070 single base substitution G A intron_variant MELA-AU 3 187443083 187443083 single base substitution G A intron_variant MELA-AU 3 187443324 187443324 single base substitution G A 3_prime_UTR_variant MELA-AU 3 187443324 187443324 single base substitution G A exon_variant MELA-AU 3 187443324 187443324 single base substitution G A missense_variant P545L 1634C>T MELA-AU 3 187443324 187443324 single base substitution G A missense_variant P601L 1802C>T MELA-AU 3 187443485 187443486 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 187443485 187443486 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 187443891 187443891 single base substitution G A intron_variant MELA-AU 3 187443891 187443891 single base substitution G A upstream_gene_variant MELA-AU 3 187444073 187444073 single base substitution G A intron_variant MELA-AU 3 187444073 187444073 single base substitution G A upstream_gene_variant MELA-AU 3 187444205 187444205 single base substitution A C intron_variant MELA-AU 3 187444205 187444205 single base substitution A C upstream_gene_variant MELA-AU 3 187444838 187444838 single base substitution G A downstream_gene_variant MELA-AU 3 187444838 187444838 single base substitution G A intron_variant MELA-AU 3 187444838 187444838 single base substitution G A upstream_gene_variant MELA-AU 3 187444892 187444892 single base substitution G A downstream_gene_variant MELA-AU 3 187444892 187444892 single base substitution G A intron_variant MELA-AU 3 187444892 187444892 single base substitution G A upstream_gene_variant MELA-AU 3 187445221 187445221 single base substitution A G downstream_gene_variant MELA-AU 3 187445221 187445221 single base substitution A G intron_variant MELA-AU 3 187445221 187445221 single base substitution A G upstream_gene_variant MELA-AU 3 187445330 187445330 single base substitution G A downstream_gene_variant MELA-AU 3 187445330 187445330 single base substitution G A intron_variant MELA-AU 3 187445330 187445330 single base substitution G A upstream_gene_variant MELA-AU 3 187445987 187445987 single base substitution G A downstream_gene_variant MELA-AU 3 187445987 187445987 single base substitution G A intron_variant MELA-AU 3 187445987 187445987 single base substitution G A upstream_gene_variant MELA-AU 3 187446313 187446313 single base substitution G A 3_prime_UTR_variant MELA-AU 3 187446313 187446313 single base substitution G A downstream_gene_variant MELA-AU 3 187446313 187446313 single base substitution G A missense_variant R459C 1375C>T MELA-AU 3 187446313 187446313 single base substitution G A upstream_gene_variant MELA-AU 3 187446430 187446430 single base substitution G A downstream_gene_variant MELA-AU 3 187446430 187446430 single base substitution G A intron_variant MELA-AU 3 187446430 187446430 single base substitution G A upstream_gene_variant MELA-AU 3 187446440 187446440 single base substitution C A downstream_gene_variant MELA-AU 3 187446440 187446440 single base substitution C A intron_variant MELA-AU 3 187446440 187446440 single base substitution C A upstream_gene_variant MELA-AU 3 187446448 187446448 single base substitution G A downstream_gene_variant MELA-AU 3 187446448 187446448 single base substitution G A intron_variant MELA-AU 3 187446448 187446448 single base substitution G A upstream_gene_variant MELA-AU 3 187446644 187446644 single base substitution G A downstream_gene_variant MELA-AU 3 187446644 187446644 single base substitution G A intron_variant MELA-AU 3 187446644 187446644 single base substitution G A upstream_gene_variant MELA-AU 3 187446846 187446846 single base substitution G A 3_prime_UTR_variant MELA-AU 3 187446846 187446846 single base substitution G A downstream_gene_variant MELA-AU 3 187446846 187446846 single base substitution G A synonymous_variant I449I 1347C>T MELA-AU 3 187446846 187446846 single base substitution G A upstream_gene_variant MELA-AU 3 187446887 187446887 single base substitution C T 3_prime_UTR_variant MELA-AU 3 187446887 187446887 single base substitution C T downstream_gene_variant MELA-AU 3 187446887 187446887 single base substitution C T missense_variant E436K 1306G>A MELA-AU 3 187446887 187446887 single base substitution C T upstream_gene_variant MELA-AU 3 187447215 187447215 single base substitution C T 3_prime_UTR_variant MELA-AU 3 187447215 187447215 single base substitution C T downstream_gene_variant MELA-AU 3 187447215 187447215 single base substitution C T synonymous_variant K326K 978G>A MELA-AU 3 187447215 187447215 single base substitution C T upstream_gene_variant MELA-AU 3 187447443 187447444 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 187447443 187447444 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 187447443 187447444 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S250F 749CC>TT MELA-AU 3 187447443 187447444 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 187447479 187447479 single base substitution G A 3_prime_UTR_variant MELA-AU 3 187447479 187447479 single base substitution G A downstream_gene_variant MELA-AU 3 187447479 187447479 single base substitution G A synonymous_variant V238V 714C>T MELA-AU 3 187447479 187447479 single base substitution G A upstream_gene_variant MELA-AU 3 187447915 187447915 single base substitution G A downstream_gene_variant MELA-AU 3 187447915 187447915 single base substitution G A intron_variant MELA-AU 3 187447915 187447915 single base substitution G A upstream_gene_variant MELA-AU 3 187448187 187448187 single base substitution G A downstream_gene_variant MELA-AU 3 187448187 187448187 single base substitution G A intron_variant MELA-AU 3 187448187 187448187 single base substitution G A upstream_gene_variant MELA-AU 3 187448191 187448191 single base substitution G A downstream_gene_variant MELA-AU 3 187448191 187448191 single base substitution G A intron_variant MELA-AU 3 187448191 187448191 single base substitution G A upstream_gene_variant MELA-AU 3 187448295 187448295 single base substitution G A downstream_gene_variant MELA-AU 3 187448295 187448295 single base substitution G A intron_variant MELA-AU 3 187448295 187448295 single base substitution G A upstream_gene_variant MELA-AU 3 187448305 187448305 single base substitution G A downstream_gene_variant MELA-AU 3 187448305 187448305 single base substitution G A intron_variant MELA-AU 3 187448305 187448305 single base substitution G A upstream_gene_variant MELA-AU 3 187448514 187448514 single base substitution G A downstream_gene_variant MELA-AU 3 187448514 187448514 single base substitution G A intron_variant MELA-AU 3 187449041 187449041 single base substitution G A downstream_gene_variant MELA-AU 3 187449041 187449041 single base substitution G A intron_variant MELA-AU 3 187449364 187449364 single base substitution T A downstream_gene_variant MELA-AU 3 187449364 187449364 single base substitution T A intron_variant MELA-AU 3 187449585 187449585 single base substitution C T 3_prime_UTR_variant MELA-AU 3 187449585 187449585 single base substitution C T downstream_gene_variant MELA-AU 3 187449585 187449585 single base substitution C T exon_variant MELA-AU 3 187449585 187449585 single base substitution C T missense_variant E99K 295G>A MELA-AU 3 187450204 187450204 single base substitution T A downstream_gene_variant MELA-AU 3 187450204 187450204 single base substitution T A intron_variant MELA-AU 3 187450836 187450836 single base substitution A C downstream_gene_variant MELA-AU 3 187450836 187450836 single base substitution A C intron_variant MELA-AU 3 187451073 187451073 single base substitution G A downstream_gene_variant MELA-AU 3 187451073 187451073 single base substitution G A intron_variant MELA-AU 3 187451239 187451240 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 187451239 187451240 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 187451300 187451300 single base substitution C T downstream_gene_variant MELA-AU 3 187451300 187451300 single base substitution C T intron_variant MELA-AU 3 187451813 187451813 single base substitution G A downstream_gene_variant MELA-AU 3 187451813 187451813 single base substitution G A intron_variant MELA-AU 3 187451932 187451932 single base substitution G A downstream_gene_variant MELA-AU 3 187451932 187451932 single base substitution G A intron_variant MELA-AU 3 187452212 187452212 single base substitution G A downstream_gene_variant MELA-AU 3 187452212 187452212 single base substitution G A intron_variant MELA-AU 3 187453888 187453888 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 187453888 187453888 single base substitution C T downstream_gene_variant MELA-AU 3 187453888 187453888 single base substitution C T intron_variant MELA-AU 3 187453888 187453888 single base substitution C T upstream_gene_variant MELA-AU 3 187454521 187454521 single base substitution C T 5_prime_UTR_variant MELA-AU 3 187454521 187454521 single base substitution C T exon_variant MELA-AU 3 187454521 187454521 single base substitution C T intron_variant MELA-AU 3 187454521 187454521 single base substitution C T upstream_gene_variant MELA-AU 3 187455966 187455966 single base substitution A G intron_variant MELA-AU 3 187455966 187455966 single base substitution A G upstream_gene_variant MELA-AU 3 187456108 187456108 single base substitution G A intron_variant MELA-AU 3 187456108 187456108 single base substitution G A upstream_gene_variant MELA-AU 3 187456109 187456109 single base substitution G A intron_variant MELA-AU 3 187456109 187456109 single base substitution G A upstream_gene_variant MELA-AU 3 187457018 187457018 single base substitution G A intron_variant MELA-AU 3 187457018 187457018 single base substitution G A upstream_gene_variant MELA-AU 3 187458141 187458141 single base substitution T C intron_variant MELA-AU 3 187458141 187458141 single base substitution T C upstream_gene_variant MELA-AU 3 187458718 187458718 single base substitution G A intron_variant MELA-AU 3 187458718 187458718 single base substitution G A upstream_gene_variant MELA-AU 3 187458783 187458783 single base substitution G A intron_variant MELA-AU 3 187458783 187458783 single base substitution G A upstream_gene_variant MELA-AU 3 187459100 187459100 single base substitution G A intron_variant MELA-AU 3 187459100 187459100 single base substitution G A upstream_gene_variant MELA-AU 3 187459699 187459699 single base substitution G A intron_variant MELA-AU 3 187459699 187459699 single base substitution G A upstream_gene_variant MELA-AU 3 187460358 187460358 single base substitution A T intron_variant MELA-AU 3 187460358 187460358 single base substitution A T upstream_gene_variant MELA-AU 3 187462049 187462049 single base substitution C T intron_variant MELA-AU 3 187463374 187463374 single base substitution G A 5_prime_UTR_variant MELA-AU 3 187463374 187463374 single base substitution G A upstream_gene_variant MELA-AU 3 187463398 187463398 single base substitution C T 5_prime_UTR_variant MELA-AU 3 187463398 187463398 single base substitution C T upstream_gene_variant MELA-AU 3 187463415 187463415 single base substitution C T 5_prime_UTR_variant MELA-AU 3 187463415 187463415 single base substitution C T upstream_gene_variant MELA-AU 3 187463489 187463489 single base substitution C T 5_prime_UTR_variant MELA-AU 3 187463489 187463489 single base substitution C T upstream_gene_variant MELA-AU 3 187463493 187463493 single base substitution C T 5_prime_UTR_variant MELA-AU 3 187463493 187463493 single base substitution C T upstream_gene_variant MELA-AU 3 187463544 187463544 single base substitution C T upstream_gene_variant MELA-AU 3 187463545 187463545 single base substitution C T upstream_gene_variant MELA-AU 3 187463548 187463548 single base substitution C T upstream_gene_variant MELA-AU 3 187463650 187463650 single base substitution C G upstream_gene_variant MELA-AU 3 187463876 187463876 single base substitution G A upstream_gene_variant MELA-AU 3 187465622 187465622 single base substitution C T upstream_gene_variant MELA-AU 3 187466447 187466447 single base substitution C T upstream_gene_variant MELA-AU 3 187466655 187466655 single base substitution C T upstream_gene_variant MELA-AU 3 187466857 187466858 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 187467382 187467382 single base substitution G A upstream_gene_variant MELA-AU 3 187467437 187467437 single base substitution C T upstream_gene_variant ORCA-IN 3 187447720 187447720 single base substitution C T 3_prime_UTR_variant ORCA-IN 3 187447720 187447720 single base substitution C T downstream_gene_variant ORCA-IN 3 187447720 187447720 single base substitution C T missense_variant R158Q 473G>A ORCA-IN 3 187447720 187447720 single base substitution C T upstream_gene_variant ORCA-IN 3 187454385 187454386 multiple base substitution (>=2bp and <=200bp) AC TG 5_prime_UTR_variant ORCA-IN 3 187454385 187454386 multiple base substitution (>=2bp and <=200bp) AC TG exon_variant ORCA-IN 3 187454385 187454386 multiple base substitution (>=2bp and <=200bp) AC TG intron_variant ORCA-IN 3 187454385 187454386 multiple base substitution (>=2bp and <=200bp) AC TG upstream_gene_variant ORCA-IN 3 187458766 187458766 single base substitution G A intron_variant ORCA-IN 3 187458766 187458766 single base substitution G A upstream_gene_variant OV-AU 3 187434655 187434655 single base substitution G A downstream_gene_variant OV-AU 3 187436530 187436530 single base substitution C G downstream_gene_variant OV-AU 3 187440706 187440706 single base substitution A G downstream_gene_variant OV-AU 3 187440706 187440706 single base substitution A G intron_variant OV-AU 3 187441613 187441613 single base substitution C T downstream_gene_variant OV-AU 3 187441613 187441613 single base substitution C T intron_variant OV-AU 3 187444169 187444169 single base substitution G T intron_variant OV-AU 3 187444169 187444169 single base substitution G T upstream_gene_variant OV-AU 3 187445234 187445234 single base substitution G A downstream_gene_variant OV-AU 3 187445234 187445234 single base substitution G A intron_variant OV-AU 3 187445234 187445234 single base substitution G A upstream_gene_variant OV-AU 3 187446416 187446416 single base substitution G A downstream_gene_variant OV-AU 3 187446416 187446416 single base substitution G A intron_variant OV-AU 3 187446416 187446416 single base substitution G A upstream_gene_variant OV-AU 3 187450603 187450603 single base substitution T A downstream_gene_variant OV-AU 3 187450603 187450603 single base substitution T A intron_variant OV-AU 3 187456761 187456761 single base substitution G T intron_variant OV-AU 3 187456761 187456761 single base substitution G T upstream_gene_variant OV-AU 3 187459952 187459952 single base substitution T C intron_variant OV-AU 3 187459952 187459952 single base substitution T C upstream_gene_variant OV-AU 3 187461139 187461139 single base substitution G C intron_variant OV-AU 3 187461798 187461798 single base substitution G C intron_variant OV-AU 3 187464415 187464415 single base substitution T G upstream_gene_variant OV-AU 3 187464868 187464868 single base substitution C A upstream_gene_variant OV-AU 3 187467091 187467091 single base substitution T G upstream_gene_variant OV-AU 3 187468369 187468369 single base substitution G A upstream_gene_variant PACA-AU 3 187445812 187445812 single base substitution T C downstream_gene_variant PACA-AU 3 187445812 187445812 single base substitution T C intron_variant PACA-AU 3 187445812 187445812 single base substitution T C upstream_gene_variant PACA-AU 3 187447371 187447371 single base substitution G C 3_prime_UTR_variant PACA-AU 3 187447371 187447371 single base substitution G C downstream_gene_variant PACA-AU 3 187447371 187447371 single base substitution G C missense_variant H274Q 822C>G PACA-AU 3 187447371 187447371 single base substitution G C upstream_gene_variant PACA-AU 3 187447641 187447641 single base substitution C A 3_prime_UTR_variant PACA-AU 3 187447641 187447641 single base substitution C A downstream_gene_variant PACA-AU 3 187447641 187447641 single base substitution C A synonymous_variant L184L 552G>T PACA-AU 3 187447641 187447641 single base substitution C A upstream_gene_variant PACA-AU 3 187451073 187451073 insertion of <=200bp - G downstream_gene_variant PACA-AU 3 187451073 187451073 insertion of <=200bp - G intron_variant PACA-AU 3 187452121 187452121 single base substitution C T downstream_gene_variant PACA-AU 3 187452121 187452121 single base substitution C T intron_variant PACA-AU 3 187459375 187459375 single base substitution C T intron_variant PACA-AU 3 187459375 187459375 single base substitution C T upstream_gene_variant PACA-AU 3 187460599 187460599 single base substitution A T intron_variant PACA-AU 3 187460599 187460599 single base substitution A T upstream_gene_variant PACA-AU 3 187460810 187460810 single base substitution C T intron_variant PACA-AU 3 187461324 187461324 single base substitution T A intron_variant PACA-AU 3 187463652 187463652 single base substitution C T upstream_gene_variant PACA-AU 3 187468435 187468435 single base substitution G A upstream_gene_variant PACA-CA 3 187434837 187434837 single base substitution C A downstream_gene_variant PACA-CA 3 187435823 187435823 single base substitution A G downstream_gene_variant PACA-CA 3 187436814 187436814 single base substitution G A downstream_gene_variant PACA-CA 3 187437896 187437896 single base substitution C A downstream_gene_variant PACA-CA 3 187438749 187438749 single base substitution G C downstream_gene_variant PACA-CA 3 187439286 187439286 single base substitution G A 3_prime_UTR_variant PACA-CA 3 187439286 187439286 single base substitution G A downstream_gene_variant PACA-CA 3 187439505 187439505 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 3 187439505 187439505 insertion of <=200bp - T downstream_gene_variant PACA-CA 3 187441876 187441876 single base substitution C T downstream_gene_variant PACA-CA 3 187441876 187441876 single base substitution C T intron_variant PACA-CA 3 187442037 187442037 single base substitution T C downstream_gene_variant PACA-CA 3 187442037 187442037 single base substitution T C intron_variant PACA-CA 3 187443752 187443752 single base substitution G C intron_variant PACA-CA 3 187443752 187443752 single base substitution G C upstream_gene_variant PACA-CA 3 187452367 187452367 single base substitution G T downstream_gene_variant PACA-CA 3 187452367 187452367 single base substitution G T exon_variant PACA-CA 3 187452367 187452367 single base substitution G T intron_variant PACA-CA 3 187454173 187454173 single base substitution A C 5_prime_UTR_variant PACA-CA 3 187454173 187454173 single base substitution A C exon_variant PACA-CA 3 187454173 187454173 single base substitution A C intron_variant PACA-CA 3 187454173 187454173 single base substitution A C upstream_gene_variant PACA-CA 3 187454440 187454440 single base substitution G C 5_prime_UTR_variant PACA-CA 3 187454440 187454440 single base substitution G C exon_variant PACA-CA 3 187454440 187454440 single base substitution G C intron_variant PACA-CA 3 187454440 187454440 single base substitution G C upstream_gene_variant PACA-CA 3 187457418 187457418 single base substitution G A intron_variant PACA-CA 3 187457418 187457418 single base substitution G A upstream_gene_variant PACA-CA 3 187459315 187459315 single base substitution G T intron_variant PACA-CA 3 187459315 187459315 single base substitution G T upstream_gene_variant PACA-CA 3 187462573 187462573 deletion of <=200bp A - intron_variant PACA-CA 3 187463402 187463402 single base substitution G T 5_prime_UTR_variant PACA-CA 3 187463402 187463402 single base substitution G T upstream_gene_variant PACA-CA 3 187463404 187463404 single base substitution C A 5_prime_UTR_variant PACA-CA 3 187463404 187463404 single base substitution C A upstream_gene_variant PACA-CA 3 187463406 187463406 single base substitution G T 5_prime_UTR_variant PACA-CA 3 187463406 187463406 single base substitution G T upstream_gene_variant PACA-CA 3 187464873 187464873 single base substitution A T upstream_gene_variant PACA-CA 3 187466550 187466550 single base substitution T G upstream_gene_variant PACA-CA 3 187467407 187467407 single base substitution C A upstream_gene_variant PACA-CA 3 187468435 187468435 single base substitution G A upstream_gene_variant PAEN-AU 3 187437011 187437011 single base substitution A T downstream_gene_variant PAEN-IT 3 187468228 187468228 single base substitution C G upstream_gene_variant PBCA-DE 3 187440293 187440293 single base substitution G A 3_prime_UTR_variant PBCA-DE 3 187440293 187440293 single base substitution G A downstream_gene_variant PBCA-DE 3 187440293 187440293 single base substitution G A missense_variant R636C 1906C>T PBCA-DE 3 187440293 187440293 single base substitution G A missense_variant R692C 2074C>T PBCA-DE 3 187443250 187443250 single base substitution C T intron_variant PBCA-DE 3 187443259 187443259 single base substitution G A intron_variant PBCA-DE 3 187443303 187443303 single base substitution C A 3_prime_UTR_variant PBCA-DE 3 187443303 187443303 single base substitution C A exon_variant PBCA-DE 3 187443303 187443303 single base substitution C A missense_variant G552V 1655G>T PBCA-DE 3 187443303 187443303 single base substitution C A missense_variant G608V 1823G>T PBCA-DE 3 187448625 187448625 single base substitution G A downstream_gene_variant PBCA-DE 3 187448625 187448625 single base substitution G A intron_variant PBCA-DE 3 187448770 187448770 single base substitution C T downstream_gene_variant PBCA-DE 3 187448770 187448770 single base substitution C T intron_variant PBCA-DE 3 187458235 187458235 insertion of <=200bp - A intron_variant PBCA-DE 3 187458235 187458235 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 187461916 187461920 deletion of <=200bp AAAAT - intron_variant PBCA-DE 3 187465702 187465702 single base substitution T A upstream_gene_variant PBCA-DE 3 187468407 187468408 deletion of <=200bp AC - upstream_gene_variant PRAD-CA 3 187435823 187435823 single base substitution A G downstream_gene_variant PRAD-CA 3 187462344 187462344 single base substitution T G intron_variant PRAD-UK 3 187436952 187436952 single base substitution G A downstream_gene_variant PRAD-UK 3 187453772 187453772 single base substitution C T downstream_gene_variant PRAD-UK 3 187453772 187453772 single base substitution C T intron_variant PRAD-UK 3 187453772 187453772 single base substitution C T upstream_gene_variant PRAD-UK 3 187454496 187454496 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 3 187454496 187454496 single base substitution A C exon_variant PRAD-UK 3 187454496 187454496 single base substitution A C intron_variant PRAD-UK 3 187454496 187454496 single base substitution A C upstream_gene_variant PRAD-UK 3 187459693 187459693 single base substitution T C intron_variant PRAD-UK 3 187459693 187459693 single base substitution T C upstream_gene_variant PRAD-US 3 187447232 187447232 single base substitution C T 3_prime_UTR_variant PRAD-US 3 187447232 187447232 single base substitution C T downstream_gene_variant PRAD-US 3 187447232 187447232 single base substitution C T missense_variant A321T 961G>A PRAD-US 3 187447232 187447232 single base substitution C T upstream_gene_variant PRAD-US 3 187447376 187447376 single base substitution T C 3_prime_UTR_variant PRAD-US 3 187447376 187447376 single base substitution T C downstream_gene_variant PRAD-US 3 187447376 187447376 single base substitution T C missense_variant M273V 817A>G PRAD-US 3 187447376 187447376 single base substitution T C upstream_gene_variant PRAD-US 3 187447543 187447543 single base substitution C T 3_prime_UTR_variant PRAD-US 3 187447543 187447543 single base substitution C T downstream_gene_variant PRAD-US 3 187447543 187447543 single base substitution C T missense_variant R217Q 650G>A PRAD-US 3 187447543 187447543 single base substitution C T upstream_gene_variant PRAD-US 3 187447645 187447645 single base substitution C T 3_prime_UTR_variant PRAD-US 3 187447645 187447645 single base substitution C T downstream_gene_variant PRAD-US 3 187447645 187447645 single base substitution C T missense_variant S183N 548G>A PRAD-US 3 187447645 187447645 single base substitution C T upstream_gene_variant PRAD-US 3 187451335 187451335 single base substitution G A downstream_gene_variant PRAD-US 3 187451335 187451335 single base substitution G A exon_variant PRAD-US 3 187451335 187451335 single base substitution G A synonymous_variant V49V 147C>T READ-US 3 187442757 187442757 single base substitution C T 3_prime_UTR_variant READ-US 3 187442757 187442757 single base substitution C T exon_variant READ-US 3 187442757 187442757 single base substitution C T missense_variant R594Q 1781G>A READ-US 3 187442757 187442757 single base substitution C T missense_variant R650Q 1949G>A READ-US 3 187446966 187446966 single base substitution C T 3_prime_UTR_variant READ-US 3 187446966 187446966 single base substitution C T downstream_gene_variant READ-US 3 187446966 187446966 single base substitution C T synonymous_variant T409T 1227G>A READ-US 3 187446966 187446966 single base substitution C T upstream_gene_variant RECA-EU 3 187441073 187441073 single base substitution T C downstream_gene_variant RECA-EU 3 187441073 187441073 single base substitution T C intron_variant RECA-EU 3 187442040 187442040 single base substitution A T downstream_gene_variant RECA-EU 3 187442040 187442040 single base substitution A T intron_variant RECA-EU 3 187445287 187445287 single base substitution T A downstream_gene_variant RECA-EU 3 187445287 187445287 single base substitution T A intron_variant RECA-EU 3 187445287 187445287 single base substitution T A upstream_gene_variant RECA-EU 3 187463635 187463635 single base substitution A G upstream_gene_variant RECA-EU 3 187466530 187466530 single base substitution G T upstream_gene_variant RECA-EU 3 187467551 187467551 single base substitution A T upstream_gene_variant SKCA-BR 3 187434925 187434925 single base substitution C T downstream_gene_variant SKCA-BR 3 187435823 187435823 single base substitution A G downstream_gene_variant SKCA-BR 3 187440104 187440104 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 187440104 187440104 single base substitution A C downstream_gene_variant SKCA-BR 3 187442854 187442854 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 187442854 187442854 single base substitution G A exon_variant SKCA-BR 3 187442854 187442854 single base substitution G A missense_variant R562C 1684C>T SKCA-BR 3 187442854 187442854 single base substitution G A missense_variant R618C 1852C>T SKCA-BR 3 187443225 187443242 deletion of <=200bp CCTCCGCTCGCCTGCCCG - intron_variant SKCA-BR 3 187443442 187443442 single base substitution G A intron_variant SKCA-BR 3 187443442 187443442 single base substitution G A upstream_gene_variant SKCA-BR 3 187444398 187444398 single base substitution G A intron_variant SKCA-BR 3 187444398 187444398 single base substitution G A upstream_gene_variant SKCA-BR 3 187452042 187452042 single base substitution G C downstream_gene_variant SKCA-BR 3 187452042 187452042 single base substitution G C intron_variant SKCA-BR 3 187457804 187457804 single base substitution G A intron_variant SKCA-BR 3 187457804 187457804 single base substitution G A upstream_gene_variant SKCA-BR 3 187460458 187460458 single base substitution T G intron_variant SKCA-BR 3 187460458 187460458 single base substitution T G upstream_gene_variant SKCA-BR 3 187461138 187461138 single base substitution A G intron_variant SKCA-BR 3 187468406 187468410 deletion of <=200bp AACAC - upstream_gene_variant SKCM-US 3 187442795 187442795 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187442795 187442795 single base substitution G A exon_variant SKCM-US 3 187442795 187442795 single base substitution G A synonymous_variant T581T 1743C>T SKCM-US 3 187442795 187442795 single base substitution G A synonymous_variant T637T 1911C>T SKCM-US 3 187442854 187442854 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187442854 187442854 single base substitution G A exon_variant SKCM-US 3 187442854 187442854 single base substitution G A missense_variant R562C 1684C>T SKCM-US 3 187442854 187442854 single base substitution G A missense_variant R618C 1852C>T SKCM-US 3 187443325 187443325 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187443325 187443325 single base substitution G A exon_variant SKCM-US 3 187443325 187443325 single base substitution G A missense_variant P545S 1633C>T SKCM-US 3 187443325 187443325 single base substitution G A missense_variant P601S 1801C>T SKCM-US 3 187444562 187444562 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187444562 187444562 single base substitution G A downstream_gene_variant SKCM-US 3 187444562 187444562 single base substitution G A intron_variant SKCM-US 3 187444562 187444562 single base substitution G A synonymous_variant F555F 1665C>T SKCM-US 3 187444562 187444562 single base substitution G A upstream_gene_variant SKCM-US 3 187444628 187444628 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187444628 187444628 single base substitution G A downstream_gene_variant SKCM-US 3 187444628 187444628 single base substitution G A intron_variant SKCM-US 3 187444628 187444628 single base substitution G A synonymous_variant L533L 1599C>T SKCM-US 3 187444628 187444628 single base substitution G A upstream_gene_variant SKCM-US 3 187446258 187446258 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187446258 187446258 single base substitution G A downstream_gene_variant SKCM-US 3 187446258 187446258 single base substitution G A missense_variant S477F 1430C>T SKCM-US 3 187446258 187446258 single base substitution G A upstream_gene_variant SKCM-US 3 187446313 187446313 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187446313 187446313 single base substitution G A downstream_gene_variant SKCM-US 3 187446313 187446313 single base substitution G A missense_variant R459C 1375C>T SKCM-US 3 187446313 187446313 single base substitution G A upstream_gene_variant SKCM-US 3 187446943 187446943 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187446943 187446943 single base substitution G A downstream_gene_variant SKCM-US 3 187446943 187446943 single base substitution G A missense_variant P417L 1250C>T SKCM-US 3 187446943 187446943 single base substitution G A upstream_gene_variant SKCM-US 3 187447255 187447255 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187447255 187447255 single base substitution G A downstream_gene_variant SKCM-US 3 187447255 187447255 single base substitution G A missense_variant A313V 938C>T SKCM-US 3 187447255 187447255 single base substitution G A upstream_gene_variant SKCM-US 3 187447572 187447572 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187447572 187447572 single base substitution G A downstream_gene_variant SKCM-US 3 187447572 187447572 single base substitution G A synonymous_variant L207L 621C>T SKCM-US 3 187447572 187447572 single base substitution G A upstream_gene_variant SKCM-US 3 187447753 187447753 single base substitution C G 3_prime_UTR_variant SKCM-US 3 187447753 187447753 single base substitution C G downstream_gene_variant SKCM-US 3 187447753 187447753 single base substitution C G missense_variant R147P 440G>C SKCM-US 3 187447753 187447753 single base substitution C G upstream_gene_variant SKCM-US 3 187447775 187447775 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187447775 187447775 single base substitution G A downstream_gene_variant SKCM-US 3 187447775 187447775 single base substitution G A missense_variant R140C 418C>T SKCM-US 3 187447775 187447775 single base substitution G A upstream_gene_variant SKCM-US 3 187449569 187449569 single base substitution G A 3_prime_UTR_variant SKCM-US 3 187449569 187449569 single base substitution G A downstream_gene_variant SKCM-US 3 187449569 187449569 single base substitution G A exon_variant SKCM-US 3 187449569 187449569 single base substitution G A missense_variant A104V 311C>T SKCM-US 3 187449586 187449586 single base substitution C T 3_prime_UTR_variant SKCM-US 3 187449586 187449586 single base substitution C T downstream_gene_variant SKCM-US 3 187449586 187449586 single base substitution C T exon_variant SKCM-US 3 187449586 187449586 single base substitution C T synonymous_variant R98R 294G>A STAD-US 3 187440320 187440320 single base substitution C T 3_prime_UTR_variant STAD-US 3 187440320 187440320 single base substitution C T downstream_gene_variant STAD-US 3 187440320 187440320 single base substitution C T missense_variant A627T 1879G>A STAD-US 3 187440320 187440320 single base substitution C T missense_variant A683T 2047G>A STAD-US 3 187442794 187442794 single base substitution G A 3_prime_UTR_variant STAD-US 3 187442794 187442794 single base substitution G A exon_variant STAD-US 3 187442794 187442794 single base substitution G A missense_variant R582C 1744C>T STAD-US 3 187442794 187442794 single base substitution G A missense_variant R638C 1912C>T STAD-US 3 187444578 187444578 single base substitution C T 3_prime_UTR_variant STAD-US 3 187444578 187444578 single base substitution C T downstream_gene_variant STAD-US 3 187444578 187444578 single base substitution C T intron_variant STAD-US 3 187444578 187444578 single base substitution C T missense_variant R550H 1649G>A STAD-US 3 187444578 187444578 single base substitution C T upstream_gene_variant STAD-US 3 187444607 187444607 single base substitution G T 3_prime_UTR_variant STAD-US 3 187444607 187444607 single base substitution G T downstream_gene_variant STAD-US 3 187444607 187444607 single base substitution G T intron_variant STAD-US 3 187444607 187444607 single base substitution G T synonymous_variant T540T 1620C>A STAD-US 3 187444607 187444607 single base substitution G T upstream_gene_variant STAD-US 3 187446201 187446201 single base substitution G A 3_prime_UTR_variant STAD-US 3 187446201 187446201 single base substitution G A downstream_gene_variant STAD-US 3 187446201 187446201 single base substitution G A missense_variant T496M 1487C>T STAD-US 3 187446201 187446201 single base substitution G A upstream_gene_variant STAD-US 3 187446270 187446270 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 3 187446270 187446270 deletion of <=200bp G - downstream_gene_variant STAD-US 3 187446270 187446270 deletion of <=200bp G - frameshift_variant P473 STAD-US 3 187446270 187446270 deletion of <=200bp G - upstream_gene_variant STAD-US 3 187447070 187447070 single base substitution A G 3_prime_UTR_variant STAD-US 3 187447070 187447070 single base substitution A G downstream_gene_variant STAD-US 3 187447070 187447070 single base substitution A G missense_variant W375R 1123T>C STAD-US 3 187447070 187447070 single base substitution A G upstream_gene_variant STAD-US 3 187447327 187447327 single base substitution C T 3_prime_UTR_variant STAD-US 3 187447327 187447327 single base substitution C T downstream_gene_variant STAD-US 3 187447327 187447327 single base substitution C T missense_variant R289Q 866G>A STAD-US 3 187447327 187447327 single base substitution C T upstream_gene_variant STAD-US 3 187447510 187447510 single base substitution C T 3_prime_UTR_variant STAD-US 3 187447510 187447510 single base substitution C T downstream_gene_variant STAD-US 3 187447510 187447510 single base substitution C T missense_variant R228Q 683G>A STAD-US 3 187447510 187447510 single base substitution C T upstream_gene_variant STAD-US 3 187447537 187447537 single base substitution G T 3_prime_UTR_variant STAD-US 3 187447537 187447537 single base substitution G T downstream_gene_variant STAD-US 3 187447537 187447537 single base substitution G T missense_variant P219H 656C>A STAD-US 3 187447537 187447537 single base substitution G T upstream_gene_variant STAD-US 3 187451439 187451439 single base substitution C T downstream_gene_variant STAD-US 3 187451439 187451439 single base substitution C T exon_variant STAD-US 3 187451439 187451439 single base substitution C T missense_variant A15T 43G>A STAD-US 3 187451444 187451444 single base substitution C T downstream_gene_variant STAD-US 3 187451444 187451444 single base substitution C T exon_variant STAD-US 3 187451444 187451444 single base substitution C T missense_variant R13H 38G>A THCA-US 3 187443336 187443336 single base substitution G C 3_prime_UTR_variant THCA-US 3 187443336 187443336 single base substitution G C exon_variant THCA-US 3 187443336 187443336 single base substitution G C missense_variant S541C 1622C>G THCA-US 3 187443336 187443336 single base substitution G C missense_variant S597C 1790C>G UCEC-US 3 187440320 187440320 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187440320 187440320 single base substitution C T downstream_gene_variant UCEC-US 3 187440320 187440320 single base substitution C T missense_variant A627T 1879G>A UCEC-US 3 187440320 187440320 single base substitution C T missense_variant A683T 2047G>A UCEC-US 3 187440334 187440334 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187440334 187440334 single base substitution C T downstream_gene_variant UCEC-US 3 187440334 187440334 single base substitution C T missense_variant R622H 1865G>A UCEC-US 3 187440334 187440334 single base substitution C T missense_variant R678H 2033G>A UCEC-US 3 187442758 187442758 single base substitution G A 3_prime_UTR_variant UCEC-US 3 187442758 187442758 single base substitution G A exon_variant UCEC-US 3 187442758 187442758 single base substitution G A stop_gained R594* 1780C>T UCEC-US 3 187442758 187442758 single base substitution G A stop_gained R650* 1948C>T UCEC-US 3 187443345 187443345 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187443345 187443345 single base substitution C T exon_variant UCEC-US 3 187443345 187443345 single base substitution C T missense_variant R538Q 1613G>A UCEC-US 3 187443345 187443345 single base substitution C T missense_variant R594Q 1781G>A UCEC-US 3 187443418 187443418 single base substitution C T splice_acceptor_variant UCEC-US 3 187443418 187443418 single base substitution C T upstream_gene_variant UCEC-US 3 187444578 187444578 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187444578 187444578 single base substitution C T downstream_gene_variant UCEC-US 3 187444578 187444578 single base substitution C T intron_variant UCEC-US 3 187444578 187444578 single base substitution C T missense_variant R550H 1649G>A UCEC-US 3 187444578 187444578 single base substitution C T upstream_gene_variant UCEC-US 3 187446173 187446173 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187446173 187446173 single base substitution C T downstream_gene_variant UCEC-US 3 187446173 187446173 single base substitution C T synonymous_variant Q505Q 1515G>A UCEC-US 3 187446173 187446173 single base substitution C T upstream_gene_variant UCEC-US 3 187446312 187446312 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187446312 187446312 single base substitution C T downstream_gene_variant UCEC-US 3 187446312 187446312 single base substitution C T missense_variant R459H 1376G>A UCEC-US 3 187446312 187446312 single base substitution C T upstream_gene_variant UCEC-US 3 187446846 187446846 single base substitution G A 3_prime_UTR_variant UCEC-US 3 187446846 187446846 single base substitution G A downstream_gene_variant UCEC-US 3 187446846 187446846 single base substitution G A synonymous_variant I449I 1347C>T UCEC-US 3 187446846 187446846 single base substitution G A upstream_gene_variant UCEC-US 3 187447093 187447093 single base substitution G A 3_prime_UTR_variant UCEC-US 3 187447093 187447093 single base substitution G A downstream_gene_variant UCEC-US 3 187447093 187447093 single base substitution G A missense_variant P367L 1100C>T UCEC-US 3 187447093 187447093 single base substitution G A upstream_gene_variant UCEC-US 3 187447260 187447260 single base substitution C A 3_prime_UTR_variant UCEC-US 3 187447260 187447260 single base substitution C A downstream_gene_variant UCEC-US 3 187447260 187447260 single base substitution C A missense_variant E311D 933G>T UCEC-US 3 187447260 187447260 single base substitution C A upstream_gene_variant UCEC-US 3 187447264 187447264 single base substitution T C 3_prime_UTR_variant UCEC-US 3 187447264 187447264 single base substitution T C downstream_gene_variant UCEC-US 3 187447264 187447264 single base substitution T C missense_variant D310G 929A>G UCEC-US 3 187447264 187447264 single base substitution T C upstream_gene_variant UCEC-US 3 187447287 187447287 single base substitution T A 3_prime_UTR_variant UCEC-US 3 187447287 187447287 single base substitution T A downstream_gene_variant UCEC-US 3 187447287 187447287 single base substitution T A missense_variant E302D 906A>T UCEC-US 3 187447287 187447287 single base substitution T A upstream_gene_variant UCEC-US 3 187447566 187447566 single base substitution G T 3_prime_UTR_variant UCEC-US 3 187447566 187447566 single base substitution G T downstream_gene_variant UCEC-US 3 187447566 187447566 single base substitution G T synonymous_variant S209S 627C>A UCEC-US 3 187447566 187447566 single base substitution G T upstream_gene_variant UCEC-US 3 187447665 187447665 single base substitution C A 3_prime_UTR_variant UCEC-US 3 187447665 187447665 single base substitution C A downstream_gene_variant UCEC-US 3 187447665 187447665 single base substitution C A missense_variant E176D 528G>T UCEC-US 3 187447665 187447665 single base substitution C A upstream_gene_variant UCEC-US 3 187449515 187449515 single base substitution C T 3_prime_UTR_variant UCEC-US 3 187449515 187449515 single base substitution C T downstream_gene_variant UCEC-US 3 187449515 187449515 single base substitution C T missense_variant R122Q 365G>A UCEC-US 3 187449515 187449515 single base substitution C T synonymous_variant ?122 UCEC-US 3 187449517 187449517 single base substitution G A 3_prime_UTR_variant UCEC-US 3 187449517 187449517 single base substitution G A downstream_gene_variant UCEC-US 3 187449517 187449517 single base substitution G A synonymous_variant C121C 363C>T UCEC-US 3 187449604 187449604 single base substitution T G 3_prime_UTR_variant UCEC-US 3 187449604 187449604 single base substitution T G downstream_gene_variant UCEC-US 3 187449604 187449604 single base substitution T G exon_variant UCEC-US 3 187449604 187449604 single base substitution T G synonymous_variant T92T 276A>C UCEC-US 3 187449605 187449605 single base substitution G A 3_prime_UTR_variant UCEC-US 3 187449605 187449605 single base substitution G A downstream_gene_variant UCEC-US 3 187449605 187449605 single base substitution G A exon_variant UCEC-US 3 187449605 187449605 single base substitution G A missense_variant T92I 275C>T UCEC-US 3 187449635 187449635 deletion of <=200bp C - 3_prime_UTR_variant UCEC-US 3 187449635 187449635 deletion of <=200bp C - downstream_gene_variant UCEC-US 3 187449635 187449635 deletion of <=200bp C - exon_variant UCEC-US 3 187449635 187449635 deletion of <=200bp C - frameshift_variant G82

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G3-A3CK-01 COSM4922357 c.349G>T p.V117F Substitution - Missense 3:187731743-187731743 - TCGA-B0-5713-01 COSM479835 c.794T>A p.I265N Substitution - Missense 3:187729611-187729611 - TCGA-LL-A5YM-01 COSM3846988 c.1427C>T p.T476M Substitution - Missense 3:187728473-187728473 - DM93 COSM5607944 c.342G>A p.M114I Substitution - Missense 3:187731750-187731750 - TCGA-DD-A73B-01 COSM4921086 c.513C>T p.S171S Substitution - coding silent 3:187729892-187729892 - SH-9248 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - KYSE450 COSM3332928 c.1623_1624delCA p.H541fs*2 Deletion - Frameshift 3:187726815-187726816 - SNUH_G76_S1 COSM1731947 c.1977+3A>G p.? Unknown 3:187724938-187724938 - CSCC-27-T COSM4493042 c.408C>T p.I136I Substitution - coding silent 3:187729997-187729997 - DLBCL705 COSM1580590 c.1856C>T p.A619V Substitution - Missense 3:187725062-187725062 - TCGA-D1-A174-01 COSM1042450 c.1376G>A p.R459H Substitution - Missense 3:187728524-187728524 - YUKAT COSM5398837 c.761G>A p.C254Y Substitution - Missense 3:187729644-187729644 - TCGA-AZ-4315-01 COSM209193 c.1781G>A p.R594Q Substitution - Missense 3:187725557-187725557 - TCGA-BS-A0UJ-01 COSM1042452 c.1100C>T p.P367L Substitution - Missense 3:187729305-187729305 - TCGA-B5-A11E-01 COSM1042458 c.528G>T p.E176D Substitution - Missense 3:187729877-187729877 - 90142 COSM329174 c.925G>T p.E309* Substitution - Nonsense 3:187729480-187729480 - SH-6055 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-AP-A051-01 COSM1042463 c.245delG p.G82fs*24 Deletion - Frameshift 3:187731847-187731847 - TCGA-EP-A2KC-01 COSM4913702 c.801A>G p.E267E Substitution - coding silent 3:187729604-187729604 - Pat_60_B COSM5864108 c.136C>T p.H46Y Substitution - Missense 3:187733558-187733558 - ESCC_131 COSM5642271 c.1780C>G p.R594G Substitution - Missense 3:187725558-187725558 - TCGA-D3-A51G-06 COSM3591103 c.1599C>T p.L533L Substitution - coding silent 3:187726840-187726840 - 587222 COSM209193 c.1781G>A p.R594Q Substitution - Missense 3:187725557-187725557 - 18D COSM1235220 c.1940G>A p.S647N Substitution - Missense 3:187724978-187724978 - TCGA-66-2793-01 COSM730008 c.37C>G p.R13G Substitution - Missense 3:187733657-187733657 - TCGA-BS-A0UV-01 COSM1042448 c.1649G>A p.R550H Substitution - Missense 3:187726790-187726790 - TCGA-AA-3510-01 COSM209193 c.1781G>A p.R594Q Substitution - Missense 3:187725557-187725557 - TCGA-BS-A0UJ-01 COSM1042457 c.627C>A p.S209S Substitution - coding silent 3:187729778-187729778 - DM36 COSM5607943 c.1140C>T p.F380F Substitution - coding silent 3:187729265-187729265 - HT55 COSM3332925 c.1841T>A p.V614E Substitution - Missense 3:187725077-187725077 - TCGA-HU-A4GQ-01 COSM1042444 c.2047G>A p.A683T Substitution - Missense 3:187722532-187722532 - TCGA-E2-A15G-01 COSM446167 c.63C>G p.N21K Substitution - Missense 3:187733631-187733631 - CSCC-31-T COSM4456017 c.988A>T p.S330C Substitution - Missense 3:187729417-187729417 - SH-8559 COSM5020788 c.492G>T p.E164D Substitution - Missense 3:187729913-187729913 - 3N08-VS-3T08 COSM3940445 c.60C>T p.L20L Substitution - coding silent 3:187733634-187733634 - TCGA-EL-A4KG-01 COSM3373118 c.1790C>G p.S597C Substitution - Missense 3:187725548-187725548 - TCGA-AA-3688-01 COSM293223 c.1418_1419insC p.K474fs*26 Insertion - Frameshift 3:187728481-187728482 - LUAD-NYU847 COSM376803 c.361T>A p.C121S Substitution - Missense 3:187731731-187731731 - TCGA-CH-5791-01 COSM1131519 c.548G>A p.S183N Substitution - Missense 3:187729857-187729857 - SH-5693 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - DLBCL817 COSM1580591 c.1844C>T p.A615V Substitution - Missense 3:187725074-187725074 - TCGA-C5-A1BF-01 COSM4836764 c.1547G>A p.G516E Substitution - Missense 3:187726892-187726892 - B66 COSM730009 c.216C>T p.I72I Substitution - coding silent 3:187731876-187731876 - SW48 COSM4656390 c.1365G>A p.T455T Substitution - coding silent 3:187728535-187728535 - OSCC-GB_01210111 COSM5954904 c.473G>A p.R158Q Substitution - Missense 3:187729932-187729932 - DM14 COSM5607940 c.640C>T p.R214W Substitution - Missense 3:187729765-187729765 - TCGA-BR-8081-01 COSM1042448 c.1649G>A p.R550H Substitution - Missense 3:187726790-187726790 - TCGA-39-5031-01 COSM730009 c.216C>T p.I72I Substitution - coding silent 3:187731876-187731876 - TCGA-A3-3387-01 COSM479833 c.1441C>T p.Q481* Substitution - Nonsense 3:187728459-187728459 - ESCC_135 COSM5642935 c.1632A>C p.K544N Substitution - Missense 3:187726807-187726807 - TCGA-AP-A051-01 COSM1042460 c.363C>T p.C121C Substitution - coding silent 3:187731729-187731729 - CSCC-16-T COSM4511885 c.883C>T p.P295S Substitution - Missense 3:187729522-187729522 - LUAD-B02077 COSM335186 c.2045G>T p.G682V Substitution - Missense 3:187722534-187722534 - TCGA-AA-3663-01 COSM1421598 c.1550C>T p.A517V Substitution - Missense 3:187726889-187726889 - YUWIA COSM5398836 c.1666C>T p.R556C Substitution - Missense 3:187726773-187726773 - 587376 COSM1184596 c.1061G>A p.C354Y Substitution - Missense 3:187729344-187729344 - YUGEMA COSM5398835 c.1697C>T p.T566I Substitution - Missense 3:187726742-187726742 - TCGA-EP-A2KC-01 COSM4913822 c.815A>T p.D272V Substitution - Missense 3:187729590-187729590 - PT21_1 COSM5900876 c.799G>A p.E267K Substitution - Missense 3:187729606-187729606 - TCGA-EE-A3AC-06 COSM3591106 c.621C>T p.L207L Substitution - coding silent 3:187729784-187729784 - CSCC-7-T COSM4564246 c.1082_1083CC>TT p.S361F Substitution - Missense 3:187729322-187729323 - 2492723 COSM3332924 c.2021G>A p.R674Q Substitution - Missense 3:187722558-187722558 - BD6T COSM3731334 c.384-10delT p.? Unknown 3:187730031-187730031 - LAU618 COSM231837 c.1090G>T p.A364S Substitution - Missense 3:187729315-187729315 - Br27P COSM39872 c.475G>A p.G159S Substitution - Missense 3:187729930-187729930 - LUAD-S01478 COSM399947 c.805G>T p.A269S Substitution - Missense 3:187729600-187729600 - Farage COSM1580589 c.1892C>A p.P631H Substitution - Missense 3:187725026-187725026 - Pat_60_A COSM5864108 c.136C>T p.H46Y Substitution - Missense 3:187733558-187733558 - LS411 COSM293223 c.1418_1419insC p.K474fs*26 Insertion - Frameshift 3:187728481-187728482 - HN_63039 COSM126569 c.865C>T p.R289* Substitution - Nonsense 3:187729540-187729540 - SH-2871 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - C135 COSM4611118 c.876_877insC p.Y293fs*5 Insertion - Frameshift 3:187729528-187729529 - SH-3458 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-CH-5763-01 COSM1131521 c.817A>G p.M273V Substitution - Missense 3:187729588-187729588 - TCGA-FR-A69P-06 COSM3591101 c.1801C>T p.P601S Substitution - Missense 3:187725537-187725537 - TCGA-EE-A29E-06 COSM3591099 c.1911C>T p.T637T Substitution - coding silent 3:187725007-187725007 - TCGA-EJ-7783-01 COSM1471537 c.961G>A p.A321T Substitution - Missense 3:187729444-187729444 - BD72T COSM3846988 c.1427C>T p.T476M Substitution - Missense 3:187728473-187728473 - 32-RS COSM1731947 c.1977+3A>G p.? Unknown 3:187724938-187724938 - HCC74T COSM1617302 c.203A>G p.N68S Substitution - Missense 3:187731889-187731889 - TCGA-F4-6856-01 COSM1421599 c.1298C>T p.A433V Substitution - Missense 3:187729107-187729107 - TCGA-EE-A29V-06 COSM3591104 c.1375C>T p.R459C Substitution - Missense 3:187728525-187728525 - CHC892T COSM4798608 c.1188G>A p.E396E Substitution - coding silent 3:187729217-187729217 - SH-3776 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - H358 COSM1194147 c.133G>T p.A45S Substitution - Missense 3:187733561-187733561 - HX16T COSM1617303 c.34A>C p.T12P Substitution - Missense 3:187733660-187733660 - TCGA-DB-A4XH-01 COSM3974315 c.517C>T p.P173S Substitution - Missense 3:187729888-187729888 - S08-7608-TP COSM4991901 c.1526C>G p.S509* Substitution - Nonsense 3:187728374-187728374 - TCGA-AA-3542-01 COSM291959 c.1757C>A p.P586Q Substitution - Missense 3:187725581-187725581 - QC2-32-T2 COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - TCGA-AM-5821-01 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - SH-1641 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-BS-A0UA-01 COSM1042450 c.1376G>A p.R459H Substitution - Missense 3:187728524-187728524 - PDA_050 COSM5000668 c.1410G>A p.M470I Substitution - Missense 3:187728490-187728490 - S06-38853-TP COSM4991902 c.882C>G p.F294L Substitution - Missense 3:187729523-187729523 - TCGA-BR-4370-01 COSM4115993 c.866G>A p.R289Q Substitution - Missense 3:187729539-187729539 - TCGA-AP-A0LM-01 COSM1042445 c.2033G>A p.R678H Substitution - Missense 3:187722546-187722546 - ESCC_131 COSM5642270 c.2038A>G p.K680E Substitution - Missense 3:187722541-187722541 - TCGA-60-2698-01 COSM730011 c.731G>T p.R244L Substitution - Missense 3:187729674-187729674 - 1N35-VS-1T35 COSM4974857 c.973C>T p.R325W Substitution - Missense 3:187729432-187729432 - I2L-P7-Tumor-Organoid COSM1042444 c.2047G>A p.A683T Substitution - Missense 3:187722532-187722532 - 8064157 COSM3392268 c.552G>T p.L184L Substitution - coding silent 3:187729853-187729853 - PT33 COSM5908253 c.1139T>G p.F380C Substitution - Missense 3:187729266-187729266 - TCGA-EI-6917-01 COSM3427441 c.1949G>A p.R650Q Substitution - Missense 3:187724969-187724969 - HCC022T COSM5817657 c.1812C>G p.C604W Substitution - Missense 3:187725526-187725526 - 16648 COSM48255 c.1076C>T p.S359F Substitution - Missense 3:187729329-187729329 - TCGA-BP-5190-01 COSM479834 c.1345A>G p.I449V Substitution - Missense 3:187729060-187729060 - 2011-2315:2012-358-T COSM4604129 c.1176A>T p.P392P Substitution - coding silent 3:187729229-187729229 - 234 COSM3731334 c.384-10delT p.? Unknown 3:187730031-187730031 - 49M COSM1042452 c.1100C>T p.P367L Substitution - Missense 3:187729305-187729305 - 08-25894 COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - PD8621a COSM5802476 c.310_311insC p.V105fs*22 Insertion - Frameshift 3:187731781-187731782 - YUKLAB COSM1042444 c.2047G>A p.A683T Substitution - Missense 3:187722532-187722532 - TCGA-D8-A1JP-01 COSM1484951 c.710C>T p.P237L Substitution - Missense 3:187729695-187729695 - TCGA-EJ-5518-01 COSM1131518 c.147C>T p.V49V Substitution - coding silent 3:187733547-187733547 - 16686 COSM48862 c.1540G>T p.E514* Substitution - Nonsense 3:187728360-187728360 - TCGA-EE-A29D-06 COSM3591108 c.418C>T p.R140C Substitution - Missense 3:187729987-187729987 - 19M COSM5578108 c.1635C>T p.P545P Substitution - coding silent 3:187726804-187726804 - CH-54-T2 COSM3332950 c.364C>T p.R122W Substitution - Missense 3:187731728-187731728 - PTC-14C COSM4157498 c.1530T>C p.D510D Substitution - coding silent 3:187728370-187728370 - CSCC-18-T COSM4511845 c.882C>T p.F294F Substitution - coding silent 3:187729523-187729523 - TCGA-AP-A0LM-01 COSM1042444 c.2047G>A p.A683T Substitution - Missense 3:187722532-187722532 - ICGC_MB14 COSM215899 c.1823G>T p.G608V Substitution - Missense 3:187725515-187725515 - TCGA-FW-A3R5-06 COSM3915545 c.938C>T p.A313V Substitution - Missense 3:187729467-187729467 - 360_T COSM3945268 c.678G>C p.K226N Substitution - Missense 3:187729727-187729727 - TCGA-AZ-6601-01 COSM1421602 c.419G>A p.R140H Substitution - Missense 3:187729986-187729986 - TCGA-AD-6895-01 COSM1421597 c.1812C>T p.C604C Substitution - coding silent 3:187725526-187725526 - TCGA-D3-A51T-06 COSM3591102 c.1665C>T p.F555F Substitution - coding silent 3:187726774-187726774 - DM12 COSM5607938 c.925G>A p.E309K Substitution - Missense 3:187729480-187729480 - SH-1362 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-HU-A4H8-01 COSM209194 c.1620C>A p.T540T Substitution - coding silent 3:187726819-187726819 - T2932 COSM4665430 c.1913G>A p.R638H Substitution - Missense 3:187725005-187725005 - 2292380 COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - 587284 COSM1184595 c.1013A>G p.D338G Substitution - Missense 3:187729392-187729392 - TCGA-32-4719-01 COSM2157407 c.1811G>A p.C604Y Substitution - Missense 3:187725527-187725527 - SH-1679 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - Farage COSM1580592 c.1735T>C p.C579R Substitution - Missense 3:187725603-187725603 - ATL001 COSM5708649 c.506T>G p.L169R Substitution - Missense 3:187729899-187729899 - SH-8559 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - 398 COSM4428994 c.749C>A p.S250Y Substitution - Missense 3:187729656-187729656 - TCGA-BP-4169-01 COSM3365112 c.475G>T p.G159C Substitution - Missense 3:187729930-187729930 - TCGA-G4-6628-01 COSM1421596 c.1918C>T p.R640W Substitution - Missense 3:187725000-187725000 - 587342 COSM1042448 c.1649G>A p.R550H Substitution - Missense 3:187726790-187726790 - TCGA-AP-A0LM-01 COSM1042453 c.933G>T p.E311D Substitution - Missense 3:187729472-187729472 - PTC-14C COSM4157495 c.1534A>G p.S512G Substitution - Missense 3:187728366-187728366 - TCGA-32-1980-01 COSM1421602 c.419G>A p.R140H Substitution - Missense 3:187729986-187729986 - DM99 COSM5607945 c.426G>A p.E142E Substitution - coding silent 3:187729979-187729979 - PTC-14C COSM4157496 c.1533T>G p.S511S Substitution - coding silent 3:187728367-187728367 - SH-3458 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - SH-5693 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - TCGA-32-4719 COSM2157407 c.1811G>A p.C604Y Substitution - Missense 3:187725527-187725527 - TCGA-39-5021-01 COSM730013 c.1880A>G p.E627G Substitution - Missense 3:187725038-187725038 - B66-Tumor COSM730009 c.216C>T p.I72I Substitution - coding silent 3:187731876-187731876 - OV207 COSM252378 c.1753C>T p.R585W Substitution - Missense 3:187725585-187725585 - SH-8559 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - DLBCL705 COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - TCGA-D1-A167-01 COSM1042462 c.275C>T p.T92I Substitution - Missense 3:187731817-187731817 - DM99 COSM5607939 c.672C>T p.F224F Substitution - coding silent 3:187729733-187729733 - B89-12-Tumor COSM4005319 c.570A>C p.T190T Substitution - coding silent 3:187729835-187729835 - TCGA-EI-6917-01 COSM3427442 c.1227G>A p.T409T Substitution - coding silent 3:187729178-187729178 - T3116 COSM4665433 c.82C>T p.R28* Substitution - Nonsense 3:187733612-187733612 - CHC892T COSM4798608 c.1188G>A p.E396E Substitution - coding silent 3:187729217-187729217 - TCGA-EK-A3GK-01 COSM4853354 c.1734C>A p.I578I Substitution - coding silent 3:187725604-187725604 - LS411 COSM3332941 c.1100C>A p.P367H Substitution - Missense 3:187729305-187729305 - TCGA-BS-A0UF-01 COSM1042461 c.276A>C p.T92T Substitution - coding silent 3:187731816-187731816 - TCGA-GF-A6C9-06 COSM4901254 c.1430C>T p.S477F Substitution - Missense 3:187728470-187728470 - TCGA-D7-8572-01 COSM4115994 c.683G>A p.R228Q Substitution - Missense 3:187729722-187729722 - T3080 COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - tumor_4163639 COSM1161454 c.2005C>T p.H669Y Substitution - Missense 3:187722574-187722574 - SNU-175 COSM1421602 c.419G>A p.R140H Substitution - Missense 3:187729986-187729986 - ESCC-235T COSM3940445 c.60C>T p.L20L Substitution - coding silent 3:187733634-187733634 - WSU-HN13 COSM4591179 c.1684G>C p.A562P Substitution - Missense 3:187726755-187726755 - DLBCL-PatientD COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - SH-9161 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - 2492722 COSM3332924 c.2021G>A p.R674Q Substitution - Missense 3:187722558-187722558 - T578 COSM4665431 c.1813G>A p.E605K Substitution - Missense 3:187725525-187725525 - 587222 COSM1184594 c.1228G>A p.A410T Substitution - Missense 3:187729177-187729177 - PD4882a COSM5025129 c.472C>T p.R158W Substitution - Missense 3:187729933-187729933 - Toledo COSM220967 c.1760C>A p.A587D Substitution - Missense 3:187725578-187725578 - 2492721 COSM3332924 c.2021G>A p.R674Q Substitution - Missense 3:187722558-187722558 - TCGA-EE-A2MP-06 COSM3591109 c.311C>T p.A104V Substitution - Missense 3:187731781-187731781 - OCI-Ly19 COSM220968 c.1762A>C p.N588H Substitution - Missense 3:187725576-187725576 - 587376 COSM209193 c.1781G>A p.R594Q Substitution - Missense 3:187725557-187725557 - T8 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-AP-A056-01 COSM1042454 c.929A>G p.D310G Substitution - Missense 3:187729476-187729476 - LIM2405 COSM4642757 c.2099C>T p.P700L Substitution - Missense 3:187722480-187722480 - TCGA-CM-5861-01 COSM1421600 c.957_958insC p.N320fs*11 Insertion - Frameshift 3:187729447-187729448 - 53M COSM5594264 c.1068C>T p.L356L Substitution - coding silent 3:187729337-187729337 - ESCC-F120 COSM5047083 c.1301G>A p.S434N Substitution - Missense 3:187729104-187729104 - TCGA-EE-A181-06 COSM3591100 c.1852C>T p.R618C Substitution - Missense 3:187725066-187725066 - CRC-02T COSM5025129 c.472C>T p.R158W Substitution - Missense 3:187729933-187729933 - Ly7 COSM220967 c.1760C>A p.A587D Substitution - Missense 3:187725578-187725578 - ESO-408 COSM1246045 c.954C>T p.P318P Substitution - coding silent 3:187729451-187729451 - PT38 COSM5922288 c.13G>A p.A5T Substitution - Missense 3:187733681-187733681 - B71-Tumor COSM4005319 c.570A>C p.T190T Substitution - coding silent 3:187729835-187729835 - TCGA-BR-4184-01 COSM4115997 c.38G>A p.R13H Substitution - Missense 3:187733656-187733656 - TCGA-06-5858-01 COSM1421596 c.1918C>T p.R640W Substitution - Missense 3:187725000-187725000 - 102 COSM5014401 c.313G>A p.V105M Substitution - Missense 3:187731779-187731779 - TCGA-EE-A2MR-06 COSM3591100 c.1852C>T p.R618C Substitution - Missense 3:187725066-187725066 - 108402 COSM93959 c.1309G>T p.D437Y Substitution - Missense 3:187729096-187729096 - TCGA-06-0210-02 COSM3408501 c.2075G>A p.R692H Substitution - Missense 3:187722504-187722504 - 93VU147T COSM4591179 c.1684G>C p.A562P Substitution - Missense 3:187726755-187726755 - TCGA-BR-8363-01 COSM4115992 c.1123T>C p.W375R Substitution - Missense 3:187729282-187729282 - SH-9771 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - DM14 COSM5607941 c.966C>G p.P322P Substitution - coding silent 3:187729439-187729439 - SH-1362 COSM3759926 c.1477G>A p.A493T Substitution - Missense 3:187728423-187728423 - DM36 COSM5607942 c.1902C>T p.I634I Substitution - coding silent 3:187725016-187725016 - LY3 COSM1580593 c.1573T>A p.C525S Substitution - Missense 3:187726866-187726866 - LUAD-YINHD COSM350824 c.1853G>A p.R618H Substitution - Missense 3:187725065-187725065 - ICC003T COSM5823362 c.173A>G p.Y58C Substitution - Missense 3:187731919-187731919 - DM12 COSM5607939 c.672C>T p.F224F Substitution - coding silent 3:187729733-187729733 - TCGA-B7-5816-01 COSM4115995 c.656C>A p.P219H Substitution - Missense 3:187729749-187729749 - TCGA-EE-A2GC-06 COSM3591100 c.1852C>T p.R618C Substitution - Missense 3:187725066-187725066 - T3724 COSM4665432 c.641G>A p.R214Q Substitution - Missense 3:187729764-187729764 - SH-7032 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - DM4 COSM5611237 c.1475_1476CC>TT p.T492I Substitution - Missense 3:187728424-187728425 - TCGA-DA-A1HV-06 COSM3591105 c.1250C>T p.P417L Substitution - Missense 3:187729155-187729155 - SH-7166 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - Ly10 COSM1580593 c.1573T>A p.C525S Substitution - Missense 3:187726866-187726866 - SH-0348 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - SW48 COSM4656389 c.1535G>A p.S512N Substitution - Missense 3:187728365-187728365 - TCGA-ER-A19P-06 COSM3591107 c.440G>C p.R147P Substitution - Missense 3:187729965-187729965 - SH-1439 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-22-4591-01 COSM730010 c.218A>G p.N73S Substitution - Missense 3:187731874-187731874 - TCGA-AP-A059-01 COSM1042447 c.1709-1G>A p.? Unknown 3:187725630-187725630 - SH-102782 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-BS-A0UJ-01 COSM1042455 c.906A>T p.E302D Substitution - Missense 3:187729499-187729499 - C086 COSM5527311 c.1954C>T p.H652Y Substitution - Missense 3:187724964-187724964 - 435 COSM4433908 c.2067G>A p.V689V Substitution - coding silent 3:187722512-187722512 - Ly19 COSM220968 c.1762A>C p.N588H Substitution - Missense 3:187725576-187725576 - TCGA-GN-A266-06 COSM3591110 c.294G>A p.R98R Substitution - coding silent 3:187731798-187731798 - 8031867 COSM3392267 c.822C>G p.H274Q Substitution - Missense 3:187729583-187729583 - SH-4435 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - TCGA-61-2012-01 COSM69808 c.878A>T p.Y293F Substitution - Missense 3:187729527-187729527 - TCGA-B5-A11E-01 COSM1042451 c.1347C>T p.I449I Substitution - coding silent 3:187729058-187729058 - 2521249 COSM5887794 c.478C>T p.R160C Substitution - Missense 3:187729927-187729927 - TCGA-G9-6373-01 COSM1131520 c.650G>A p.R217Q Substitution - Missense 3:187729755-187729755 - KYSE-450 COSM3332928 c.1623_1624delCA p.H541fs*2 Deletion - Frameshift 3:187726815-187726816 - WSU-HN12 COSM4591179 c.1684G>C p.A562P Substitution - Missense 3:187726755-187726755 - TCGA-D1-A16X-01 COSM1042450 c.1376G>A p.R459H Substitution - Missense 3:187728524-187728524 - 02-P170 COSM4584172 c.979G>T p.G327C Substitution - Missense 3:187729426-187729426 - 2011-2280:2012-366-T COSM4605016 c.289T>C p.L97L Substitution - coding silent 3:187731803-187731803 - TCGA-CJ-4895-01 COSM291959 c.1757C>A p.P586Q Substitution - Missense 3:187725581-187725581 - TCGA-D1-A103-01 COSM209193 c.1781G>A p.R594Q Substitution - Missense 3:187725557-187725557 - KYSE-510 COSM3332935 c.1372C>T p.P458S Substitution - Missense 3:187728528-187728528 - S02245 COSM5678569 c.1839+2T>A p.? Unknown 3:187725497-187725497 - tumor_4184094 COSM3357685 c.367A>T p.K123* Substitution - Nonsense 3:187731725-187731725 - HT115 COSM3332924 c.2021G>A p.R674Q Substitution - Missense 3:187722558-187722558 - GHE0609 COSM220321 c.1759G>A p.A587T Substitution - Missense 3:187725579-187725579 - T207 COSM4433908 c.2067G>A p.V689V Substitution - coding silent 3:187722512-187722512 - sysucc-1163T COSM5459044 c.1541-10C>T p.? Unknown 3:187726908-187726908 - SH-3327 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - CSCC-41-T COSM4472736 c.1802C>G p.P601R Substitution - Missense 3:187725536-187725536 - CSCC-62-T COSM4568021 c.972_973CC>TT p.R325W Substitution - Missense 3:187729432-187729433 - PD11462a COSM5801683 c.1979delG p.C660fs*>47 Deletion - Frameshift 3:187722600-187722600 - HCC74 COSM1617302 c.203A>G p.N68S Substitution - Missense 3:187731889-187731889 - RMS10_ COSM4985681 c.1861G>A p.V621M Substitution - Missense 3:187725057-187725057 - TCGA-HJ-7597-01 COSM4115990 c.1912C>T p.R638C Substitution - Missense 3:187725006-187725006 - TCGA-BR-8078-01 COSM4115991 c.1487C>T p.T496M Substitution - Missense 3:187728413-187728413 - OCI-Ly7 COSM220967 c.1760C>A p.A587D Substitution - Missense 3:187725578-187725578 - HCC2998 COSM3332929 c.1612C>T p.L538L Substitution - coding silent 3:187726827-187726827 - TCGA-EW-A1P8-01 COSM1484950 c.1684G>A p.A562T Substitution - Missense 3:187726755-187726755 - TCGA-AP-A0LM-01 COSM1042459 c.365G>A p.R122Q Substitution - Missense 3:187731727-187731727 - TCGA-BR-4362-01 COSM4115996 c.43G>A p.A15T Substitution - Missense 3:187733651-187733651 - SH-3133 COSM5019038 c.1161C>T p.N387N Substitution - coding silent 3:187729244-187729244 - HCT8 COSM4634954 c.1373C>T p.P458L Substitution - Missense 3:187728527-187728527 - LUAD-B02477 COSM335888 c.588C>T p.S196S Substitution - coding silent 3:187729817-187729817 - TCGA-BG-A0VW-01 COSM1042446 c.1948C>T p.R650* Substitution - Nonsense 3:187724970-187724970 - TCGA-CS-5393-01 COSM3974316 c.335T>C p.L112P Substitution - Missense 3:187731757-187731757 - PTC-14C COSM4157497 c.1532C>G p.S511C Substitution - Missense 3:187728368-187728368 - 2492720 COSM3332924 c.2021G>A p.R674Q Substitution - Missense 3:187722558-187722558 - TCGA-A5-A0GA-01 COSM1042456 c.734C>T p.P245L Substitution - Missense 3:187729671-187729671 - SK0115_P COSM1600212 c.1367G>T p.G456V Substitution - Missense 3:187728533-187728533 - TCGA-D1-A103-01 COSM1042449 c.1515G>A p.Q505Q Substitution - coding silent 3:187728385-187728385 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.478588 3q27 109565

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 5-UTRSNV . c.1-11794T>G 3 187463275 DLBCL A C 5-UTRSNV . c.1-11802T>G 3 187463283 DLBCL A C IntronicSNV . c.1-10088T>G 3 187461569 DLBCL A C IntronicSNV . c.1-11561T>G 3 187463042 CLL A - Frameshift p.C475Afs*115 c.1423delT 3 187446265 COREAD A G Missense p.L112P c.335T>C 3 187449545 LGG A T IntronicSNV . c.1-11616T>A 3 187463097 DLBCL A T Missense p.I265N c.794T>A 3 187447399 RCCC C A Missense p.E99D c.297G>T 3 187449583 CM C A Missense p.G159C c.475G>T 3 187447718 RCCC C A Missense p.G608V c.1823G>T 3 187443303 MB C A Nonsense p.E514* c.1540G>T 3 187446148 LUAD C G IntronicSNV . c.1-10286G>C 3 187461767 DLBCL C G Missense p.R147P c.440G>C 3 187447753 CM C T 5-UTRSNV . c.1-11774G>A 3 187463255 DLBCL C T IntronicSNV . c.1-11190G>A 3 187462671 CLL C T IntronicSNV . c.1-11195G>A 3 187462676 CLL C T Missense p.A321T c.961G>A 3 187447232 PRAD C T Missense p.A562T c.1684G>A 3 187444543 BRCA C T Missense p.C604Y c.1811G>A 3 187443315 GBM C T Missense p.E503K c.1507G>A 3 187446181 LUAD C T Missense p.R140H c.419G>A 3 187447774 GBM C T Missense p.R289Q c.866G>A 3 187447327 STAD C T Missense p.R459H c.1376G>A 3 187446312 UCEC C T Missense p.R692H c.2075G>A 3 187440292 GBM C T Missense p.S183N c.548G>A 3 187447645 PRAD G A 5-UTRSNV . c.1-11789C>T 3 187463270 DLBCL G A IntronicSNV . c.1-10998C>T 3 187462479 CLL G A IntronicSNV . c.1-11059C>T 3 187462540 CLL G A IntronicSNV . c.1-11245C>T 3 187462726 CLL G A Missense p.A104V c.311C>T 3 187449569 CM G A Missense p.A364V c.1091C>T 3 187447102 HNSC G A Missense p.G159S c.475G>A 3 187447718 GBM G A Missense p.H669Y c.2005C>T 3 187440362 DLBCL G A Missense p.P237L c.710C>T 3 187447483 BRCA G A Missense p.P417L c.1250C>T 3 187446943 CM G A Missense p.R618C c.1852C>T 3 187442854 CM G A Missense p.R678C c.2032C>T 3 187440335 LUAD G A Missense p.S359F c.1076C>T 3 187447117 LUAD G A Nonsense p.Q481* c.1441C>T 3 187446247 RCCC G A Nonsense p.R289* c.865C>T 3 187447328 HNSC G A Nonsense p.R650* c.1948C>T 3 187442758 UCEC G C IntronicSNV . c.1-11217C>G 3 187462698 CLL G C IntronicSNV . c.1-11519C>G 3 187463000 CLL G C IntronicSNV . c.1-11590C>G 3 187463071 DLBCL G C Missense p.P261R c.782C>G 3 187447411 HNSC - G Frameshift p.K474Efs*26 c.1418dupC 3 187446270 COREAD G T Missense p.P219H c.656C>A 3 187447537 STAD G T Missense p.P586Q c.1757C>A 3 187443369 COREAD G T Missense p.P586Q c.1757C>A 3 187443369 RCCC T A Missense p.Y293F c.878A>T 3 187447315 OV T C 5-UTRSNV . c.1-11731A>G 3 187463212 DLBCL TC - Frameshift p.K474Vfs*25 c.1419_1420delGA 3 187446268 COREAD T C IntronicSNV . c.1-11134A>G 3 187462615 CLL T C IntronicSNV . c.1-11607A>G 3 187463088 CLL T C Missense p.E627G c.1880A>G 3 187442826 LUSC T C Missense p.I449V c.1345A>G 3 187446848 RCCC T C Missense p.M273V c.817A>G 3 187447376 PRAD T C Missense p.N73S c.218A>G 3 187449662 LUSC