Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 49147976 49147976 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr3:49147976G>T c.3451C>A c.(3451-3453)Cta>Ata p.L1151I BLCA 3 49152740 49152740 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr3:49152740C>T c.1634G>A c.(1633-1635)cGt>cAt p.R545H BLCA 3 49152979 49152979 + Silent SNP G G A TCGA-BT-A20V-01A-11D-A14W-08 TCGA-BT-A20V-11A-11D-A14W-08 g.chr3:49152979G>A c.1477C>T c.(1477-1479)Ctg>Ttg p.L493L BLCA 3 49152995 49152995 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr3:49152995T>G c.1461A>C c.(1459-1461)gaA>gaC p.E487D BLCA 3 49153530 49153530 + Missense_Mutation SNP C C G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:49153530C>G c.1118G>C c.(1117-1119)cGt>cCt p.R373P BLCA 3 49153551 49153551 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr3:49153551G>C c.1097C>G c.(1096-1098)tCt>tGt p.S366C BLCA 3 49153998 49153998 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr3:49153998G>A c.866C>T c.(865-867)tCg>tTg p.S289L BLCA 3 49154958 49154958 + Missense_Mutation SNP G G A TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr3:49154958G>A c.518C>T c.(517-519)tCt>tTt p.S173F BRCA 3 49147699 49147699 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:49147699G>C c.3647C>G c.(3646-3648)tCt>tGt p.S1216C BRCA 3 49148221 49148221 + Silent SNP G G T TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr3:49148221G>T c.3312C>A c.(3310-3312)atC>atA p.I1104I BRCA 3 49148493 49148493 + Silent SNP A A G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:49148493A>G c.3126T>C c.(3124-3126)tgT>tgC p.C1042C BRCA 3 49152539 49152539 + Silent SNP C C T TCGA-E2-A1LA-01A-11D-A142-09 TCGA-E2-A1LA-10A-01D-A142-09 g.chr3:49152539C>T c.1725G>A c.(1723-1725)gcG>gcA p.A575A BRCA 3 49153206 49153206 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 g.chr3:49153206C>T c.1334G>A c.(1333-1335)cGc>cAc p.R445H BRCA 3 49154009 49154009 + Silent SNP G G A TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr3:49154009G>A c.855C>T c.(853-855)gtC>gtT p.V285V CESC 3 49147778 49147778 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:49147778C>T c.3568G>A c.(3568-3570)Gac>Aac p.D1190N CESC 3 49147892 49147892 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:49147892G>C c.3535C>G c.(3535-3537)Cag>Gag p.Q1179E CESC 3 49151464 49151464 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:49151464C>G c.2157G>C c.(2155-2157)caG>caC p.Q719H CESC 3 49152994 49152994 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr3:49152994C>G c.1462G>C c.(1462-1464)Gag>Cag p.E488Q CESC 3 49153054 49153054 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr3:49153054C>T c.1402G>A c.(1402-1404)Gtg>Atg p.V468M CESC 3 49154041 49154041 + Splice_Site SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr3:49154041C>G c.e7-1 COAD 3 49146459 49146459 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49146459C>T c.3889G>A c.(3889-3891)Gtg>Atg p.V1297M COAD 3 49146512 49146512 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:49146512C>T c.3836G>A c.(3835-3837)cGt>cAt p.R1279H COAD 3 49148412 49148412 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49148412C>T c.3207G>A c.(3205-3207)cgG>cgA p.R1069R COAD 3 49148451 49148451 + Silent SNP G G T TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr3:49148451G>T c.3168C>A c.(3166-3168)ggC>ggA p.G1056G COAD 3 49148453 49148453 + Missense_Mutation SNP C C A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:49148453C>A c.3166G>T c.(3166-3168)Ggc>Tgc p.G1056C COAD 3 49149244 49149244 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:49149244T>C c.2597A>G c.(2596-2598)tAc>tGc p.Y866C COAD 3 49149770 49149770 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:49149770C>A c.2403G>T c.(2401-2403)gaG>gaT p.E801D COAD 3 49149786 49149786 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:49149786C>T c.2387G>A c.(2386-2388)cGg>cAg p.R796Q COAD 3 49151428 49151428 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr3:49151428C>T c.2193G>A c.(2191-2193)gcG>gcA p.A731A COAD 3 49151503 49151503 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:49151503C>A c.2118G>T c.(2116-2118)gaG>gaT p.E706D COAD 3 49151717 49151717 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:49151717C>T c.1984G>A c.(1984-1986)Gtc>Atc p.V662I COAD 3 49152224 49152224 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:49152224G>A c.1955C>T c.(1954-1956)tCg>tTg p.S652L COAD 3 49152447 49152447 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49152447C>T c.1817G>A c.(1816-1818)cGc>cAc p.R606H COAD 3 49152539 49152539 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:49152539C>T c.1725G>A c.(1723-1725)gcG>gcA p.A575A COAD 3 49153290 49153290 + Missense_Mutation SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:49153290G>T c.1250C>A c.(1249-1251)aCa>aAa p.T417K COAD 3 49154016 49154016 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:49154016G>A c.848C>T c.(847-849)gCg>gTg p.A283V COAD 3 49154036 49154036 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:49154036G>A c.828C>T c.(826-828)ccC>ccT p.P276P COAD 3 49154036 49154036 + Silent SNP G G A TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr3:49154036G>A c.828C>T c.(826-828)ccC>ccT p.P276P COADREAD 3 49146459 49146459 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49146459C>T c.3889G>A c.(3889-3891)Gtg>Atg p.V1297M COADREAD 3 49146512 49146512 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:49146512C>T c.3836G>A c.(3835-3837)cGt>cAt p.R1279H COADREAD 3 49146603 49146604 + Frame_Shift_Ins INS - - C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr3:49146603_49146604insC c.3744_3745insG c.(3742-3747)tggcagfs p.Q1249fs COADREAD 3 49148412 49148412 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49148412C>T c.3207G>A c.(3205-3207)cgG>cgA p.R1069R COADREAD 3 49148451 49148451 + Silent SNP G G T TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr3:49148451G>T c.3168C>A c.(3166-3168)ggC>ggA p.G1056G COADREAD 3 49148453 49148453 + Missense_Mutation SNP C C A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:49148453C>A c.3166G>T c.(3166-3168)Ggc>Tgc p.G1056C COADREAD 3 49149244 49149244 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:49149244T>C c.2597A>G c.(2596-2598)tAc>tGc p.Y866C COADREAD 3 49149770 49149770 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:49149770C>A c.2403G>T c.(2401-2403)gaG>gaT p.E801D COADREAD 3 49149786 49149786 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:49149786C>T c.2387G>A c.(2386-2388)cGg>cAg p.R796Q COADREAD 3 49151428 49151428 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr3:49151428C>T c.2193G>A c.(2191-2193)gcG>gcA p.A731A COADREAD 3 49151503 49151503 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:49151503C>A c.2118G>T c.(2116-2118)gaG>gaT p.E706D COADREAD 3 49151717 49151717 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:49151717C>T c.1984G>A c.(1984-1986)Gtc>Atc p.V662I COADREAD 3 49152224 49152224 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:49152224G>A c.1955C>T c.(1954-1956)tCg>tTg p.S652L COADREAD 3 49152447 49152447 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49152447C>T c.1817G>A c.(1816-1818)cGc>cAc p.R606H COADREAD 3 49152539 49152539 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:49152539C>T c.1725G>A c.(1723-1725)gcG>gcA p.A575A COADREAD 3 49153290 49153290 + Missense_Mutation SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:49153290G>T c.1250C>A c.(1249-1251)aCa>aAa p.T417K COADREAD 3 49154016 49154016 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:49154016G>A c.848C>T c.(847-849)gCg>gTg p.A283V COADREAD 3 49154036 49154036 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:49154036G>A c.828C>T c.(826-828)ccC>ccT p.P276P COADREAD 3 49154036 49154036 + Silent SNP G G A TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr3:49154036G>A c.828C>T c.(826-828)ccC>ccT p.P276P DLBC 3 49146612 49146612 + Missense_Mutation SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr3:49146612G>A c.3736C>T c.(3736-3738)Cgg>Tgg p.R1246W DLBC 3 49148980 49148980 + Missense_Mutation SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr3:49148980A>G c.2861T>C c.(2860-2862)aTt>aCt p.I954T DLBC 3 49149020 49149020 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:49149020T>C c.2821A>G c.(2821-2823)Acc>Gcc p.T941A ESCA 3 49148789 49148789 + Missense_Mutation SNP G G C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 g.chr3:49148789G>C c.2918C>G c.(2917-2919)cCt>cGt p.P973R GBMLGG 3 49152282 49152282 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 g.chr3:49152282G>A c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W GBMLGG 3 49153204 49153204 + Missense_Mutation SNP T T A TCGA-S9-A7QW-01A-11D-A34A-08 TCGA-S9-A7QW-10A-01D-A34A-08 g.chr3:49153204T>A c.1336A>T c.(1336-1338)Aca>Tca p.T446S GBMLGG 3 49153548 49153548 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49153548C>T c.1100G>A c.(1099-1101)cGc>cAc p.R367H GBMLGG 3 49155466 49155466 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49155466A>G c.212T>C c.(211-213)aTc>aCc p.I71T HNSC 3 49148936 49148936 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chr3:49148936C>T c.2905G>A c.(2905-2907)Gaa>Aaa p.E969K HNSC 3 49149116 49149116 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr3:49149116G>T c.2725C>A c.(2725-2727)Cag>Aag p.Q909K HNSC 3 49149394 49149394 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr3:49149394G>A c.2544C>T c.(2542-2544)gcC>gcT p.A848A HNSC 3 49149744 49149744 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr3:49149744C>A c.2429G>T c.(2428-2430)cGg>cTg p.R810L HNSC 3 49151435 49151435 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr3:49151435C>T c.2186G>A c.(2185-2187)cGt>cAt p.R729H HNSC 3 49152479 49152479 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:49152479G>A c.1785C>T c.(1783-1785)ttC>ttT p.F595F HNSC 3 49152891 49152891 + Missense_Mutation SNP C C T TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr3:49152891C>T c.1565G>A c.(1564-1566)cGg>cAg p.R522Q HNSC 3 49152909 49152909 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr3:49152909G>C c.1547C>G c.(1546-1548)tCc>tGc p.S516C HNSC 3 49152992 49152992 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 g.chr3:49152992C>G c.1464G>C c.(1462-1464)gaG>gaC p.E488D HNSC 3 49153322 49153322 + Silent SNP T T C TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr3:49153322T>C c.1218A>G c.(1216-1218)tcA>tcG p.S406S HNSC 3 49154907 49154907 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr3:49154907G>T c.569C>A c.(568-570)cCc>cAc p.P190H HNSC 3 49155121 49155121 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr3:49155121G>C c.441C>G c.(439-441)ttC>ttG p.F147L HNSC 3 49155175 49155175 + Silent SNP G G C TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr3:49155175G>C c.387C>G c.(385-387)gtC>gtG p.V129V HNSC 3 49155409 49155409 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr3:49155409G>A c.269C>T c.(268-270)tCc>tTc p.S90F KICH 3 49153200 49153200 + Missense_Mutation SNP G G T TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr3:49153200G>T c.1340C>A c.(1339-1341)cCc>cAc p.P447H KIPAN 3 49148708 49148709 + Missense_Mutation DNP TC TC AT TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr3:49148708_49148709TC>AT c.2998_2999GA>AT c.(2998-3000)GAg>ATg p.E1000M KIPAN 3 49148785 49148785 + Frame_Shift_Del DEL C C - TCGA-A4-8518-01A-11D-2396-08 TCGA-A4-8518-10A-01D-2396-08 g.chr3:49148785delC c.2922delG c.(2920-2922)gggfs p.G974fs KIPAN 3 49149414 49149414 + Missense_Mutation SNP A A G TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr3:49149414A>G c.2524T>C c.(2524-2526)Ttc>Ctc p.F842L KIPAN 3 49153190 49153190 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr3:49153190A>G c.1350T>C c.(1348-1350)caT>caC p.H450H KIPAN 3 49153200 49153200 + Missense_Mutation SNP G G T TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr3:49153200G>T c.1340C>A c.(1339-1341)cCc>cAc p.P447H KIRC 3 49153190 49153190 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr3:49153190A>G c.1350T>C c.(1348-1350)caT>caC p.H450H KIRP 3 49148708 49148709 + Missense_Mutation DNP TC TC AT TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr3:49148708_49148709TC>AT c.2998_2999GA>AT c.(2998-3000)GAg>ATg p.E1000M KIRP 3 49148785 49148785 + Frame_Shift_Del DEL C C - TCGA-A4-8518-01A-11D-2396-08 TCGA-A4-8518-10A-01D-2396-08 g.chr3:49148785delC c.2922delG c.(2920-2922)gggfs p.G974fs KIRP 3 49149414 49149414 + Missense_Mutation SNP A A G TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr3:49149414A>G c.2524T>C c.(2524-2526)Ttc>Ctc p.F842L LGG 3 49152282 49152282 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 g.chr3:49152282G>A c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W LGG 3 49153204 49153204 + Missense_Mutation SNP T T A TCGA-S9-A7QW-01A-11D-A34A-08 TCGA-S9-A7QW-10A-01D-A34A-08 g.chr3:49153204T>A c.1336A>T c.(1336-1338)Aca>Tca p.T446S LGG 3 49153548 49153548 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49153548C>T c.1100G>A c.(1099-1101)cGc>cAc p.R367H LGG 3 49155466 49155466 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49155466A>G c.212T>C c.(211-213)aTc>aCc p.I71T LIHC 3 49149789 49149789 + Missense_Mutation SNP T T C TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr3:49149789T>C c.2384A>G c.(2383-2385)cAg>cGg p.Q795R LIHC 3 49151699 49151699 + Missense_Mutation SNP G G C TCGA-DD-A114-01A-11D-A12Z-10 TCGA-DD-A114-10A-01D-A12Z-10 g.chr3:49151699G>C c.2002C>G c.(2002-2004)Ccg>Gcg p.P668A LIHC 3 49153294 49153294 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:49153294delG c.1246delC c.(1246-1248)ctgfs p.L416fs LIHC 3 49153563 49153563 + Missense_Mutation SNP C C T TCGA-BD-A2L6-01A-11D-A20W-10 TCGA-BD-A2L6-11A-21D-A20W-10 g.chr3:49153563C>T c.1085G>A c.(1084-1086)tGt>tAt p.C362Y LUAD 3 49148453 49148453 + Missense_Mutation SNP C C A TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr3:49148453C>A c.3166G>T c.(3166-3168)Ggc>Tgc p.G1056C LUAD 3 49148462 49148462 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:49148462C>A c.3157G>T c.(3157-3159)Gcc>Tcc p.A1053S LUAD 3 49149022 49149022 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr3:49149022C>G c.2819G>C c.(2818-2820)aGc>aCc p.S940T LUAD 3 49151718 49151718 + Splice_Site SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr3:49151718C>A c.e15-1 LUAD 3 49152399 49152399 + Missense_Mutation SNP G G C TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr3:49152399G>C c.1865C>G c.(1864-1866)cCc>cGc p.P622R LUAD 3 49152706 49152706 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr3:49152706C>A c.1668G>T c.(1666-1668)gcG>gcT p.A556A LUAD 3 49153219 49153219 + Missense_Mutation SNP T T A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr3:49153219T>A c.1321A>T c.(1321-1323)Agt>Tgt p.S441C LUAD 3 49153902 49153902 + Missense_Mutation SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr3:49153902G>A c.962C>T c.(961-963)aCg>aTg p.T321M LUAD 3 49153913 49153913 + Silent SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr3:49153913C>T c.951G>A c.(949-951)gaG>gaA p.E317E LUAD 3 49153944 49153944 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr3:49153944C>A c.920G>T c.(919-921)tGc>tTc p.C307F LUAD 3 49155487 49155487 + Missense_Mutation SNP G G A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr3:49155487G>A c.191C>T c.(190-192)tCa>tTa p.S64L LUSC 3 49146522 49146522 + Missense_Mutation SNP G G A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 g.chr3:49146522G>A c.3826C>T c.(3826-3828)Ccc>Tcc p.P1276S LUSC 3 49152898 49152898 + Frame_Shift_Del DEL C C - TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr3:49152898delC c.1558delG c.(1558-1560)gaafs p.E520fs LUSC 3 49153267 49153267 + Missense_Mutation SNP C C A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr3:49153267C>A c.1273G>T c.(1273-1275)Gtg>Ttg p.V425L OV 3 49148251 49148251 + Silent SNP C C A TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr3:49148251C>A c.3282G>T c.(3280-3282)ctG>ctT p.L1094L OV 3 49148453 49148453 + Missense_Mutation SNP C C T TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 g.chr3:49148453C>T c.3166G>A c.(3166-3168)Ggc>Agc p.G1056S OV 3 49153262 49153262 + Silent SNP C C T TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr3:49153262C>T c.1278G>A c.(1276-1278)gaG>gaA p.E426E OV 3 49154036 49154036 + Silent SNP G G A TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 g.chr3:49154036G>A c.828C>T c.(826-828)ccC>ccT p.P276P PAAD 3 49147789 49147789 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49147789C>T c.3557G>A c.(3556-3558)cGc>cAc p.R1186H PAAD 3 49152269 49152269 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49152269C>T c.1910G>A c.(1909-1911)aGg>aAg p.R637K PAAD 3 49153749 49153749 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49153749C>T c.1016G>A c.(1015-1017)gGg>gAg p.G339E PAAD 3 49154234 49154234 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49154234C>A c.749G>T c.(748-750)aGc>aTc p.S250I PCPG 3 49151652 49151652 + Silent SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 g.chr3:49151652G>A c.2049C>T c.(2047-2049)ctC>ctT p.L683L PRAD 3 49147711 49147711 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 g.chr3:49147711C>A c.3635G>T c.(3634-3636)cGc>cTc p.R1212L PRAD 3 49148431 49148431 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49148431C>T c.3188G>A c.(3187-3189)tGc>tAc p.C1063Y PRAD 3 49153358 49153358 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49153358C>A c.1182G>T c.(1180-1182)aaG>aaT p.K394N READ 3 49146603 49146604 + Frame_Shift_Ins INS - - C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr3:49146603_49146604insC c.3744_3745insG c.(3742-3747)tggcagfs p.Q1249fs SKCM 3 49146439 49146439 + Silent SNP G G A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr3:49146439G>A c.3909C>T c.(3907-3909)ctC>ctT p.L1303L SKCM 3 49146461 49146461 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49146461G>A c.3887C>T c.(3886-3888)aCc>aTc p.T1296I SKCM 3 49146575 49146575 + Missense_Mutation SNP A A T TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr3:49146575A>T c.3773T>A c.(3772-3774)gTg>gAg p.V1258E SKCM 3 49146576 49146576 + Missense_Mutation SNP C C T TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr3:49146576C>T c.3772G>A c.(3772-3774)Gtg>Atg p.V1258M SKCM 3 49146577 49146577 + Silent SNP C C T TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr3:49146577C>T c.3771G>A c.(3769-3771)ccG>ccA p.P1257P SKCM 3 49148196 49148196 + Missense_Mutation SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr3:49148196G>A c.3337C>T c.(3337-3339)Cgt>Tgt p.R1113C SKCM 3 49148460 49148460 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:49148460G>A c.3159C>T c.(3157-3159)gcC>gcT p.A1053A SKCM 3 49148963 49148963 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:49148963G>C c.2878C>G c.(2878-2880)Cca>Gca p.P960A SKCM 3 49148967 49148967 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr3:49148967G>A c.2874C>T c.(2872-2874)tcC>tcT p.S958S SKCM 3 49148998 49148998 + Missense_Mutation SNP A A C TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:49148998A>C c.2843T>G c.(2842-2844)aTg>aGg p.M948R SKCM 3 49149058 49149058 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:49149058C>T c.2783G>A c.(2782-2784)cGg>cAg p.R928Q SKCM 3 49149062 49149062 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:49149062G>A c.2779C>T c.(2779-2781)Ccc>Tcc p.P927S SKCM 3 49149063 49149063 + Silent SNP A A C TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:49149063A>C c.2778T>G c.(2776-2778)ctT>ctG p.L926L SKCM 3 49149122 49149122 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:49149122G>A c.2719C>T c.(2719-2721)Ccc>Tcc p.P907S SKCM 3 49149150 49149150 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr3:49149150G>A c.2691C>T c.(2689-2691)tcC>tcT p.S897S SKCM 3 49149153 49149153 + Silent SNP A A G TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:49149153A>G c.2688T>C c.(2686-2688)ggT>ggC p.G896G SKCM 3 49149411 49149411 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49149411G>A c.2527C>T c.(2527-2529)Ctg>Ttg p.L843L SKCM 3 49150050 49150050 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:49150050G>A c.2209C>T c.(2209-2211)Cgt>Tgt p.R737C SKCM 3 49150050 49150050 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:49150050G>A c.2209C>T c.(2209-2211)Cgt>Tgt p.R737C SKCM 3 49150050 49150050 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr3:49150050G>A c.2209C>T c.(2209-2211)Cgt>Tgt p.R737C SKCM 3 49151470 49151470 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:49151470G>A c.2151C>T c.(2149-2151)ctC>ctT p.L717L SKCM 3 49152456 49152456 + Missense_Mutation SNP T T G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr3:49152456T>G c.1808A>C c.(1807-1809)gAc>gCc p.D603A SKCM 3 49152779 49152779 + Missense_Mutation SNP G G C TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr3:49152779G>C c.1595C>G c.(1594-1596)gCt>gGt p.A532G SKCM 3 49154225 49154225 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:49154225G>A c.758C>T c.(757-759)cCt>cTt p.P253L SKCM 3 49154226 49154226 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:49154226G>A c.757C>T c.(757-759)Cct>Tct p.P253S SKCM 3 49154881 49154881 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr3:49154881G>A c.595C>T c.(595-597)Ccc>Tcc p.P199S SKCM 3 49154907 49154907 + Missense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr3:49154907G>A c.569C>T c.(568-570)cCc>cTc p.P190L SKCM 3 49154918 49154918 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr3:49154918G>A c.558C>T c.(556-558)caC>caT p.H186H SKCM 3 49155168 49155168 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:49155168G>A c.394C>T c.(394-396)Cgt>Tgt p.R132C SKCM 3 49155249 49155249 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr3:49155249G>A c.313C>T c.(313-315)Cct>Tct p.P105S SKCM 3 49155497 49155497 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:49155497G>A c.181C>T c.(181-183)Cct>Tct p.P61S SKCM 3 49156456 49156456 + Splice_Site SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr3:49156456T>C c.123A>G c.(121-123)aaA>aaG p.K41K

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 49151457 49151457 single base substitution G A downstream_gene_variant BLCA-CN 3 49151457 49151457 single base substitution G A missense_variant H530Y 1588C>T BLCA-CN 3 49151457 49151457 single base substitution G A missense_variant H722Y 2164C>T BLCA-CN 3 49151457 49151457 single base substitution G A missense_variant H762Y 2284C>T BLCA-CN 3 49151457 49151457 single base substitution G A missense_variant H813Y 2437C>T BLCA-CN 3 49151457 49151457 single base substitution G A missense_variant H823Y 2467C>T BLCA-CN 3 49151457 49151457 single base substitution G A missense_variant H825Y 2473C>T BLCA-CN 3 49151457 49151457 single base substitution G A upstream_gene_variant BLCA-CN 3 49161951 49161951 single base substitution G A upstream_gene_variant BLCA-US 3 49141772 49141772 single base substitution C T downstream_gene_variant BLCA-US 3 49153551 49153551 single base substitution G C downstream_gene_variant BLCA-US 3 49153551 49153551 single base substitution G C exon_variant BLCA-US 3 49153551 49153551 single base substitution G C missense_variant S172C 515C>G BLCA-US 3 49153551 49153551 single base substitution G C missense_variant S366C 1097C>G BLCA-US 3 49153551 49153551 single base substitution G C missense_variant S404C 1211C>G BLCA-US 3 49153551 49153551 single base substitution G C missense_variant S452C 1355C>G BLCA-US 3 49153551 49153551 single base substitution G C missense_variant S457C 1370C>G BLCA-US 3 49153551 49153551 single base substitution G C missense_variant S467C 1400C>G BLCA-US 3 49153998 49153998 single base substitution G A downstream_gene_variant BLCA-US 3 49153998 49153998 single base substitution G A exon_variant BLCA-US 3 49153998 49153998 single base substitution G A missense_variant S289L 866C>T BLCA-US 3 49153998 49153998 single base substitution G A missense_variant S327L 980C>T BLCA-US 3 49153998 49153998 single base substitution G A missense_variant S375L 1124C>T BLCA-US 3 49153998 49153998 single base substitution G A missense_variant S380L 1139C>T BLCA-US 3 49153998 49153998 single base substitution G A missense_variant S390L 1169C>T BLCA-US 3 49153998 49153998 single base substitution G A missense_variant S95L 284C>T BLCA-US 3 49160696 49160696 single base substitution G A upstream_gene_variant BLCA-US 3 49161498 49161498 single base substitution G A upstream_gene_variant BRCA-EU 3 49141083 49141083 single base substitution G C downstream_gene_variant BRCA-EU 3 49142140 49142140 single base substitution G A downstream_gene_variant BRCA-EU 3 49142669 49142669 single base substitution G C downstream_gene_variant BRCA-EU 3 49144137 49144137 single base substitution C T downstream_gene_variant BRCA-EU 3 49145927 49145927 single base substitution G A downstream_gene_variant BRCA-EU 3 49145927 49145927 single base substitution G A missense_variant P1063L 3188C>T BRCA-EU 3 49145927 49145927 single base substitution G A missense_variant P1295L 3884C>T BRCA-EU 3 49145927 49145927 single base substitution G A missense_variant P1346L 4037C>T BRCA-EU 3 49145927 49145927 single base substitution G A missense_variant P1358L 4073C>T BRCA-EU 3 49146222 49146222 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 49146222 49146222 single base substitution G A downstream_gene_variant BRCA-EU 3 49146222 49146222 single base substitution G A intron_variant BRCA-EU 3 49146651 49146651 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 49146651 49146651 deletion of <=200bp G - intron_variant BRCA-EU 3 49146811 49146811 single base substitution T C downstream_gene_variant BRCA-EU 3 49146811 49146811 single base substitution T C intron_variant BRCA-EU 3 49147951 49147951 single base substitution C G exon_variant BRCA-EU 3 49147951 49147951 single base substitution C G missense_variant G1159A 3476G>C BRCA-EU 3 49147951 49147951 single base substitution C G missense_variant G1199A 3596G>C BRCA-EU 3 49147951 49147951 single base substitution C G missense_variant G1250A 3749G>C BRCA-EU 3 49147951 49147951 single base substitution C G missense_variant G1260A 3779G>C BRCA-EU 3 49147951 49147951 single base substitution C G missense_variant G1262A 3785G>C BRCA-EU 3 49147951 49147951 single base substitution C G missense_variant G967A 2900G>C BRCA-EU 3 49148732 49148732 single base substitution T C downstream_gene_variant BRCA-EU 3 49148732 49148732 single base substitution T C missense_variant Y1032C 3095A>G BRCA-EU 3 49148732 49148732 single base substitution T C missense_variant Y1083C 3248A>G BRCA-EU 3 49148732 49148732 single base substitution T C missense_variant Y1093C 3278A>G BRCA-EU 3 49148732 49148732 single base substitution T C missense_variant Y1095C 3284A>G BRCA-EU 3 49148732 49148732 single base substitution T C missense_variant Y800C 2399A>G BRCA-EU 3 49148732 49148732 single base substitution T C missense_variant Y992C 2975A>G BRCA-EU 3 49148732 49148732 single base substitution T C upstream_gene_variant BRCA-EU 3 49149090 49149090 single base substitution G C downstream_gene_variant BRCA-EU 3 49149090 49149090 single base substitution G C synonymous_variant T1008T 3024C>G BRCA-EU 3 49149090 49149090 single base substitution G C synonymous_variant T1018T 3054C>G BRCA-EU 3 49149090 49149090 single base substitution G C synonymous_variant T1020T 3060C>G BRCA-EU 3 49149090 49149090 single base substitution G C synonymous_variant T725T 2175C>G BRCA-EU 3 49149090 49149090 single base substitution G C synonymous_variant T917T 2751C>G BRCA-EU 3 49149090 49149090 single base substitution G C synonymous_variant T957T 2871C>G BRCA-EU 3 49149090 49149090 single base substitution G C upstream_gene_variant BRCA-EU 3 49149249 49149249 single base substitution G A downstream_gene_variant BRCA-EU 3 49149249 49149249 single base substitution G A splice_region_variant BRCA-EU 3 49149249 49149249 single base substitution G A upstream_gene_variant BRCA-EU 3 49158705 49158705 single base substitution A G upstream_gene_variant BRCA-EU 3 49158908 49158908 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 49160012 49160012 single base substitution G C upstream_gene_variant BRCA-EU 3 49162352 49162352 single base substitution C T upstream_gene_variant BRCA-EU 3 49162765 49162765 single base substitution C T upstream_gene_variant BRCA-FR 3 49141083 49141083 single base substitution G C downstream_gene_variant BRCA-FR 3 49145927 49145927 single base substitution G A downstream_gene_variant BRCA-FR 3 49145927 49145927 single base substitution G A missense_variant P1063L 3188C>T BRCA-FR 3 49145927 49145927 single base substitution G A missense_variant P1295L 3884C>T BRCA-FR 3 49145927 49145927 single base substitution G A missense_variant P1346L 4037C>T BRCA-FR 3 49145927 49145927 single base substitution G A missense_variant P1358L 4073C>T BRCA-KR 3 49146563 49146563 single base substitution G A downstream_gene_variant BRCA-KR 3 49146563 49146563 single base substitution G A intron_variant BRCA-KR 3 49146563 49146563 single base substitution G A missense_variant S1262F 3785C>T BRCA-KR 3 49146563 49146563 single base substitution G A missense_variant S1302F 3905C>T BRCA-KR 3 49146563 49146563 single base substitution G A missense_variant S1363F 4088C>T BRCA-KR 3 49152272 49152272 single base substitution A G downstream_gene_variant BRCA-KR 3 49152272 49152272 single base substitution A G missense_variant M444T 1331T>C BRCA-KR 3 49152272 49152272 single base substitution A G missense_variant M636T 1907T>C BRCA-KR 3 49152272 49152272 single base substitution A G missense_variant M676T 2027T>C BRCA-KR 3 49152272 49152272 single base substitution A G missense_variant M727T 2180T>C BRCA-KR 3 49152272 49152272 single base substitution A G missense_variant M737T 2210T>C BRCA-KR 3 49152272 49152272 single base substitution A G missense_variant M739T 2216T>C BRCA-KR 3 49152272 49152272 single base substitution A G upstream_gene_variant BRCA-UK 3 49148610 49148610 single base substitution G A downstream_gene_variant BRCA-UK 3 49148610 49148610 single base substitution G A intron_variant BRCA-UK 3 49148610 49148610 single base substitution G A upstream_gene_variant BRCA-UK 3 49155920 49155920 single base substitution G A intron_variant BRCA-UK 3 49155920 49155920 single base substitution G A upstream_gene_variant BRCA-US 3 49140800 49140800 single base substitution A C downstream_gene_variant BRCA-US 3 49141350 49141350 single base substitution G T downstream_gene_variant BRCA-US 3 49147699 49147699 single base substitution G C exon_variant BRCA-US 3 49147699 49147699 single base substitution G C missense_variant S1024C 3071C>G BRCA-US 3 49147699 49147699 single base substitution G C missense_variant S1216C 3647C>G BRCA-US 3 49147699 49147699 single base substitution G C missense_variant S1256C 3767C>G BRCA-US 3 49147699 49147699 single base substitution G C missense_variant S1307C 3920C>G BRCA-US 3 49147699 49147699 single base substitution G C missense_variant S1317C 3950C>G BRCA-US 3 49147699 49147699 single base substitution G C missense_variant S1319C 3956C>G BRCA-US 3 49148221 49148221 single base substitution G T downstream_gene_variant BRCA-US 3 49148221 49148221 single base substitution G T synonymous_variant I1104I 3312C>A BRCA-US 3 49148221 49148221 single base substitution G T synonymous_variant I1144I 3432C>A BRCA-US 3 49148221 49148221 single base substitution G T synonymous_variant I1195I 3585C>A BRCA-US 3 49148221 49148221 single base substitution G T synonymous_variant I1205I 3615C>A BRCA-US 3 49148221 49148221 single base substitution G T synonymous_variant I1207I 3621C>A BRCA-US 3 49148221 49148221 single base substitution G T synonymous_variant I912I 2736C>A BRCA-US 3 49148221 49148221 single base substitution G T upstream_gene_variant BRCA-US 3 49148493 49148493 single base substitution A G downstream_gene_variant BRCA-US 3 49148493 49148493 single base substitution A G synonymous_variant C1042C 3126T>C BRCA-US 3 49148493 49148493 single base substitution A G synonymous_variant C1082C 3246T>C BRCA-US 3 49148493 49148493 single base substitution A G synonymous_variant C1133C 3399T>C BRCA-US 3 49148493 49148493 single base substitution A G synonymous_variant C1143C 3429T>C BRCA-US 3 49148493 49148493 single base substitution A G synonymous_variant C1145C 3435T>C BRCA-US 3 49148493 49148493 single base substitution A G synonymous_variant C850C 2550T>C BRCA-US 3 49148493 49148493 single base substitution A G upstream_gene_variant BRCA-US 3 49152539 49152539 single base substitution C T downstream_gene_variant BRCA-US 3 49152539 49152539 single base substitution C T synonymous_variant A383A 1149G>A BRCA-US 3 49152539 49152539 single base substitution C T synonymous_variant A575A 1725G>A BRCA-US 3 49152539 49152539 single base substitution C T synonymous_variant A615A 1845G>A BRCA-US 3 49152539 49152539 single base substitution C T synonymous_variant A666A 1998G>A BRCA-US 3 49152539 49152539 single base substitution C T synonymous_variant A676A 2028G>A BRCA-US 3 49152539 49152539 single base substitution C T synonymous_variant A678A 2034G>A BRCA-US 3 49152539 49152539 single base substitution C T upstream_gene_variant BRCA-US 3 49153206 49153206 single base substitution C T downstream_gene_variant BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R253H 758G>A BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R445H 1334G>A BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R485H 1454G>A BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R533H 1598G>A BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R536H 1607G>A BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R546H 1637G>A BRCA-US 3 49153206 49153206 single base substitution C T missense_variant R548H 1643G>A BRCA-US 3 49154009 49154009 single base substitution G A downstream_gene_variant BRCA-US 3 49154009 49154009 single base substitution G A exon_variant BRCA-US 3 49154009 49154009 single base substitution G A synonymous_variant V285V 855C>T BRCA-US 3 49154009 49154009 single base substitution G A synonymous_variant V323V 969C>T BRCA-US 3 49154009 49154009 single base substitution G A synonymous_variant V371V 1113C>T BRCA-US 3 49154009 49154009 single base substitution G A synonymous_variant V376V 1128C>T BRCA-US 3 49154009 49154009 single base substitution G A synonymous_variant V386V 1158C>T BRCA-US 3 49154009 49154009 single base substitution G A synonymous_variant V91V 273C>T BRCA-US 3 49158663 49158663 single base substitution T A upstream_gene_variant BRCA-US 3 49159431 49159431 single base substitution A C upstream_gene_variant BRCA-US 3 49159432 49159432 single base substitution C T upstream_gene_variant BRCA-US 3 49160162 49160162 single base substitution G A upstream_gene_variant BRCA-US 3 49160243 49160243 single base substitution C T upstream_gene_variant BRCA-US 3 49162717 49162717 single base substitution G C upstream_gene_variant BRCA-US 3 49163267 49163267 single base substitution G A upstream_gene_variant BTCA-JP 3 49148180 49148180 single base substitution C T downstream_gene_variant BTCA-JP 3 49148180 49148180 single base substitution C T exon_variant BTCA-JP 3 49148180 49148180 single base substitution C T missense_variant R1118H 3353G>A BTCA-JP 3 49148180 49148180 single base substitution C T missense_variant R1158H 3473G>A BTCA-JP 3 49148180 49148180 single base substitution C T missense_variant R1209H 3626G>A BTCA-JP 3 49148180 49148180 single base substitution C T missense_variant R1219H 3656G>A BTCA-JP 3 49148180 49148180 single base substitution C T missense_variant R1221H 3662G>A BTCA-JP 3 49148180 49148180 single base substitution C T missense_variant R926H 2777G>A BTCA-JP 3 49153394 49153395 deletion of <=200bp GA - downstream_gene_variant BTCA-JP 3 49153394 49153395 deletion of <=200bp GA - intron_variant BTCA-JP 3 49153512 49153512 single base substitution C T downstream_gene_variant BTCA-JP 3 49153512 49153512 single base substitution C T exon_variant BTCA-JP 3 49153512 49153512 single base substitution C T missense_variant R185H 554G>A BTCA-JP 3 49153512 49153512 single base substitution C T missense_variant R379H 1136G>A BTCA-JP 3 49153512 49153512 single base substitution C T missense_variant R417H 1250G>A BTCA-JP 3 49153512 49153512 single base substitution C T missense_variant R465H 1394G>A BTCA-JP 3 49153512 49153512 single base substitution C T missense_variant R470H 1409G>A BTCA-JP 3 49153512 49153512 single base substitution C T missense_variant R480H 1439G>A BTCA-JP 3 49153632 49153632 single base substitution A G downstream_gene_variant BTCA-JP 3 49153632 49153632 single base substitution A G intron_variant BTCA-JP 3 49156687 49156687 single base substitution C T 5_prime_UTR_variant BTCA-JP 3 49156687 49156687 single base substitution C T exon_variant BTCA-JP 3 49156687 49156687 single base substitution C T upstream_gene_variant CESC-US 3 49147778 49147778 single base substitution C T exon_variant CESC-US 3 49147778 49147778 single base substitution C T missense_variant D1190N 3568G>A CESC-US 3 49147778 49147778 single base substitution C T missense_variant D1230N 3688G>A CESC-US 3 49147778 49147778 single base substitution C T missense_variant D1281N 3841G>A CESC-US 3 49147778 49147778 single base substitution C T missense_variant D1291N 3871G>A CESC-US 3 49147778 49147778 single base substitution C T missense_variant D1293N 3877G>A CESC-US 3 49147778 49147778 single base substitution C T missense_variant D998N 2992G>A CESC-US 3 49147892 49147892 single base substitution G C exon_variant CESC-US 3 49147892 49147892 single base substitution G C missense_variant Q1179E 3535C>G CESC-US 3 49147892 49147892 single base substitution G C missense_variant Q1219E 3655C>G CESC-US 3 49147892 49147892 single base substitution G C missense_variant Q1270E 3808C>G CESC-US 3 49147892 49147892 single base substitution G C missense_variant Q1280E 3838C>G CESC-US 3 49147892 49147892 single base substitution G C missense_variant Q1282E 3844C>G CESC-US 3 49147892 49147892 single base substitution G C missense_variant Q987E 2959C>G CESC-US 3 49151464 49151464 single base substitution C G downstream_gene_variant CESC-US 3 49151464 49151464 single base substitution C G missense_variant Q527H 1581G>C CESC-US 3 49151464 49151464 single base substitution C G missense_variant Q719H 2157G>C CESC-US 3 49151464 49151464 single base substitution C G missense_variant Q759H 2277G>C CESC-US 3 49151464 49151464 single base substitution C G missense_variant Q810H 2430G>C CESC-US 3 49151464 49151464 single base substitution C G missense_variant Q820H 2460G>C CESC-US 3 49151464 49151464 single base substitution C G missense_variant Q822H 2466G>C CESC-US 3 49151464 49151464 single base substitution C G upstream_gene_variant CESC-US 3 49152994 49152994 single base substitution C G downstream_gene_variant CESC-US 3 49152994 49152994 single base substitution C G missense_variant E296Q 886G>C CESC-US 3 49152994 49152994 single base substitution C G missense_variant E488Q 1462G>C CESC-US 3 49152994 49152994 single base substitution C G missense_variant E528Q 1582G>C CESC-US 3 49152994 49152994 single base substitution C G missense_variant E579Q 1735G>C CESC-US 3 49152994 49152994 single base substitution C G missense_variant E589Q 1765G>C CESC-US 3 49152994 49152994 single base substitution C G missense_variant E591Q 1771G>C CESC-US 3 49152994 49152994 single base substitution C G upstream_gene_variant CESC-US 3 49153054 49153054 single base substitution C T downstream_gene_variant CESC-US 3 49153054 49153054 single base substitution C T missense_variant V276M 826G>A CESC-US 3 49153054 49153054 single base substitution C T missense_variant V468M 1402G>A CESC-US 3 49153054 49153054 single base substitution C T missense_variant V508M 1522G>A CESC-US 3 49153054 49153054 single base substitution C T missense_variant V556M 1666G>A CESC-US 3 49153054 49153054 single base substitution C T missense_variant V559M 1675G>A CESC-US 3 49153054 49153054 single base substitution C T missense_variant V569M 1705G>A CESC-US 3 49153054 49153054 single base substitution C T missense_variant V571M 1711G>A CESC-US 3 49153054 49153054 single base substitution C T upstream_gene_variant CESC-US 3 49154041 49154041 single base substitution C G downstream_gene_variant CESC-US 3 49154041 49154041 single base substitution C G splice_acceptor_variant CESC-US 3 49160390 49160390 single base substitution G C upstream_gene_variant CESC-US 3 49160436 49160436 single base substitution C G upstream_gene_variant CESC-US 3 49160566 49160566 single base substitution A G upstream_gene_variant CESC-US 3 49161197 49161197 single base substitution G A upstream_gene_variant CESC-US 3 49161416 49161416 single base substitution G A upstream_gene_variant CESC-US 3 49162313 49162313 single base substitution G C upstream_gene_variant CESC-US 3 49162772 49162772 single base substitution G A upstream_gene_variant CLLE-ES 3 49160729 49160729 single base substitution C T upstream_gene_variant COAD-US 3 49145894 49145894 deletion of <=200bp G - downstream_gene_variant COAD-US 3 49145894 49145894 deletion of <=200bp G - frameshift_variant P1074 COAD-US 3 49145894 49145894 deletion of <=200bp G - frameshift_variant P1306 COAD-US 3 49145894 49145894 deletion of <=200bp G - frameshift_variant P1357 COAD-US 3 49145894 49145894 deletion of <=200bp G - frameshift_variant P1369 COAD-US 3 49145956 49145956 single base substitution T G downstream_gene_variant COAD-US 3 49145956 49145956 single base substitution T G synonymous_variant L1053L 3159A>C COAD-US 3 49145956 49145956 single base substitution T G synonymous_variant L1285L 3855A>C COAD-US 3 49145956 49145956 single base substitution T G synonymous_variant L1336L 4008A>C COAD-US 3 49145956 49145956 single base substitution T G synonymous_variant L1348L 4044A>C COAD-US 3 49146459 49146459 single base substitution C T downstream_gene_variant COAD-US 3 49146459 49146459 single base substitution C T intron_variant COAD-US 3 49146459 49146459 single base substitution C T missense_variant V1297M 3889G>A COAD-US 3 49146459 49146459 single base substitution C T missense_variant V1337M 4009G>A COAD-US 3 49146459 49146459 single base substitution C T missense_variant V1398M 4192G>A COAD-US 3 49146512 49146512 single base substitution C T downstream_gene_variant COAD-US 3 49146512 49146512 single base substitution C T intron_variant COAD-US 3 49146512 49146512 single base substitution C T missense_variant R1279H 3836G>A COAD-US 3 49146512 49146512 single base substitution C T missense_variant R1319H 3956G>A COAD-US 3 49146512 49146512 single base substitution C T missense_variant R1380H 4139G>A COAD-US 3 49148451 49148451 single base substitution G T downstream_gene_variant COAD-US 3 49148451 49148451 single base substitution G T synonymous_variant G1056G 3168C>A COAD-US 3 49148451 49148451 single base substitution G T synonymous_variant G1096G 3288C>A COAD-US 3 49148451 49148451 single base substitution G T synonymous_variant G1147G 3441C>A COAD-US 3 49148451 49148451 single base substitution G T synonymous_variant G1157G 3471C>A COAD-US 3 49148451 49148451 single base substitution G T synonymous_variant G1159G 3477C>A COAD-US 3 49148451 49148451 single base substitution G T synonymous_variant G864G 2592C>A COAD-US 3 49148451 49148451 single base substitution G T upstream_gene_variant COAD-US 3 49149244 49149244 single base substitution T C downstream_gene_variant COAD-US 3 49149244 49149244 single base substitution T C missense_variant Y674C 2021A>G COAD-US 3 49149244 49149244 single base substitution T C missense_variant Y866C 2597A>G COAD-US 3 49149244 49149244 single base substitution T C missense_variant Y906C 2717A>G COAD-US 3 49149244 49149244 single base substitution T C missense_variant Y957C 2870A>G COAD-US 3 49149244 49149244 single base substitution T C missense_variant Y967C 2900A>G COAD-US 3 49149244 49149244 single base substitution T C missense_variant Y969C 2906A>G COAD-US 3 49149244 49149244 single base substitution T C upstream_gene_variant COAD-US 3 49149770 49149770 single base substitution C A downstream_gene_variant COAD-US 3 49149770 49149770 single base substitution C A missense_variant E609D 1827G>T COAD-US 3 49149770 49149770 single base substitution C A missense_variant E801D 2403G>T COAD-US 3 49149770 49149770 single base substitution C A missense_variant E841D 2523G>T COAD-US 3 49149770 49149770 single base substitution C A missense_variant E892D 2676G>T COAD-US 3 49149770 49149770 single base substitution C A missense_variant E902D 2706G>T COAD-US 3 49149770 49149770 single base substitution C A missense_variant E904D 2712G>T COAD-US 3 49149770 49149770 single base substitution C A upstream_gene_variant COAD-US 3 49149786 49149786 single base substitution C T downstream_gene_variant COAD-US 3 49149786 49149786 single base substitution C T missense_variant R604Q 1811G>A COAD-US 3 49149786 49149786 single base substitution C T missense_variant R796Q 2387G>A COAD-US 3 49149786 49149786 single base substitution C T missense_variant R836Q 2507G>A COAD-US 3 49149786 49149786 single base substitution C T missense_variant R887Q 2660G>A COAD-US 3 49149786 49149786 single base substitution C T missense_variant R897Q 2690G>A COAD-US 3 49149786 49149786 single base substitution C T missense_variant R899Q 2696G>A COAD-US 3 49149786 49149786 single base substitution C T upstream_gene_variant COAD-US 3 49151428 49151428 single base substitution C T downstream_gene_variant COAD-US 3 49151428 49151428 single base substitution C T synonymous_variant A539A 1617G>A COAD-US 3 49151428 49151428 single base substitution C T synonymous_variant A731A 2193G>A COAD-US 3 49151428 49151428 single base substitution C T synonymous_variant A771A 2313G>A COAD-US 3 49151428 49151428 single base substitution C T synonymous_variant A822A 2466G>A COAD-US 3 49151428 49151428 single base substitution C T synonymous_variant A832A 2496G>A COAD-US 3 49151428 49151428 single base substitution C T synonymous_variant A834A 2502G>A COAD-US 3 49151428 49151428 single base substitution C T upstream_gene_variant COAD-US 3 49154737 49154737 single base substitution G A downstream_gene_variant COAD-US 3 49154737 49154737 single base substitution G A exon_variant COAD-US 3 49154737 49154737 single base substitution G A intron_variant COAD-US 3 49154737 49154737 single base substitution G A stop_gained Q159* 475C>T COAD-US 3 49154737 49154737 single base substitution G A stop_gained Q19* 55C>T COAD-US 3 49154737 49154737 single base substitution G A stop_gained Q207* 619C>T COAD-US 3 49154737 49154737 single base substitution G A stop_gained Q212* 634C>T COAD-US 3 49154737 49154737 single base substitution G A stop_gained Q222* 664C>T COAD-US 3 49155556 49155556 deletion of <=200bp A - intron_variant COAD-US 3 49155556 49155556 deletion of <=200bp A - splice_region_variant COAD-US 3 49155556 49155556 deletion of <=200bp A - upstream_gene_variant COAD-US 3 49161235 49161235 single base substitution C A upstream_gene_variant COAD-US 3 49161899 49161899 single base substitution G A upstream_gene_variant COAD-US 3 49162184 49162184 single base substitution G A upstream_gene_variant COAD-US 3 49162243 49162243 single base substitution A G upstream_gene_variant COAD-US 3 49162572 49162572 single base substitution C T upstream_gene_variant COCA-CN 3 49146454 49146454 single base substitution C T downstream_gene_variant COCA-CN 3 49146454 49146454 single base substitution C T intron_variant COCA-CN 3 49146454 49146454 single base substitution C T synonymous_variant A1298A 3894G>A COCA-CN 3 49146454 49146454 single base substitution C T synonymous_variant A1338A 4014G>A COCA-CN 3 49146454 49146454 single base substitution C T synonymous_variant A1399A 4197G>A COCA-CN 3 49152710 49152710 single base substitution C T downstream_gene_variant COCA-CN 3 49152710 49152710 single base substitution C T missense_variant R363Q 1088G>A COCA-CN 3 49152710 49152710 single base substitution C T missense_variant R555Q 1664G>A COCA-CN 3 49152710 49152710 single base substitution C T missense_variant R595Q 1784G>A COCA-CN 3 49152710 49152710 single base substitution C T missense_variant R646Q 1937G>A COCA-CN 3 49152710 49152710 single base substitution C T missense_variant R656Q 1967G>A COCA-CN 3 49152710 49152710 single base substitution C T missense_variant R658Q 1973G>A COCA-CN 3 49152710 49152710 single base substitution C T upstream_gene_variant COCA-CN 3 49152721 49152721 single base substitution G A downstream_gene_variant COCA-CN 3 49152721 49152721 single base substitution G A synonymous_variant A359A 1077C>T COCA-CN 3 49152721 49152721 single base substitution G A synonymous_variant A551A 1653C>T COCA-CN 3 49152721 49152721 single base substitution G A synonymous_variant A591A 1773C>T COCA-CN 3 49152721 49152721 single base substitution G A synonymous_variant A642A 1926C>T COCA-CN 3 49152721 49152721 single base substitution G A synonymous_variant A652A 1956C>T COCA-CN 3 49152721 49152721 single base substitution G A synonymous_variant A654A 1962C>T COCA-CN 3 49152721 49152721 single base substitution G A upstream_gene_variant COCA-CN 3 49153034 49153034 single base substitution G A downstream_gene_variant COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S282S 846C>T COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S474S 1422C>T COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S514S 1542C>T COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S562S 1686C>T COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S565S 1695C>T COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S575S 1725C>T COCA-CN 3 49153034 49153034 single base substitution G A synonymous_variant S577S 1731C>T COCA-CN 3 49153034 49153034 single base substitution G A upstream_gene_variant COCA-CN 3 49153206 49153206 single base substitution C T downstream_gene_variant COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R253H 758G>A COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R445H 1334G>A COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R485H 1454G>A COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R533H 1598G>A COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R536H 1607G>A COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R546H 1637G>A COCA-CN 3 49153206 49153206 single base substitution C T missense_variant R548H 1643G>A COCA-CN 3 49153233 49153233 single base substitution T C downstream_gene_variant COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D244G 731A>G COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D436G 1307A>G COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D476G 1427A>G COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D524G 1571A>G COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D527G 1580A>G COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D537G 1610A>G COCA-CN 3 49153233 49153233 single base substitution T C missense_variant D539G 1616A>G COCA-CN 3 49153548 49153548 single base substitution C T downstream_gene_variant COCA-CN 3 49153548 49153548 single base substitution C T exon_variant COCA-CN 3 49153548 49153548 single base substitution C T missense_variant R173H 518G>A COCA-CN 3 49153548 49153548 single base substitution C T missense_variant R367H 1100G>A COCA-CN 3 49153548 49153548 single base substitution C T missense_variant R405H 1214G>A COCA-CN 3 49153548 49153548 single base substitution C T missense_variant R453H 1358G>A COCA-CN 3 49153548 49153548 single base substitution C T missense_variant R458H 1373G>A COCA-CN 3 49153548 49153548 single base substitution C T missense_variant R468H 1403G>A COCA-CN 3 49154755 49154755 single base substitution G A downstream_gene_variant COCA-CN 3 49154755 49154755 single base substitution G A exon_variant COCA-CN 3 49154755 49154755 single base substitution G A intron_variant COCA-CN 3 49154755 49154755 single base substitution G A missense_variant R13W 37C>T COCA-CN 3 49154755 49154755 single base substitution G A missense_variant R153W 457C>T COCA-CN 3 49154755 49154755 single base substitution G A missense_variant R201W 601C>T COCA-CN 3 49154755 49154755 single base substitution G A missense_variant R206W 616C>T COCA-CN 3 49154755 49154755 single base substitution G A missense_variant R216W 646C>T COCA-CN 3 49159141 49159141 single base substitution C A upstream_gene_variant COCA-CN 3 49159210 49159210 single base substitution A G upstream_gene_variant COCA-CN 3 49159337 49159337 single base substitution C T upstream_gene_variant COCA-CN 3 49159541 49159541 single base substitution A T upstream_gene_variant COCA-CN 3 49159628 49159628 single base substitution G A upstream_gene_variant COCA-CN 3 49160242 49160242 single base substitution G A upstream_gene_variant COCA-CN 3 49163236 49163236 single base substitution C T upstream_gene_variant ESAD-UK 3 49141567 49141567 single base substitution G C downstream_gene_variant ESAD-UK 3 49142677 49142677 single base substitution G A downstream_gene_variant ESAD-UK 3 49144786 49144786 single base substitution G A downstream_gene_variant ESAD-UK 3 49144804 49144804 single base substitution C T downstream_gene_variant ESAD-UK 3 49146687 49146687 single base substitution G A downstream_gene_variant ESAD-UK 3 49146687 49146687 single base substitution G A intron_variant ESAD-UK 3 49147432 49147432 single base substitution G C downstream_gene_variant ESAD-UK 3 49147432 49147432 single base substitution G C intron_variant ESAD-UK 3 49147434 49147434 single base substitution T A downstream_gene_variant ESAD-UK 3 49147434 49147434 single base substitution T A intron_variant ESAD-UK 3 49147760 49147760 single base substitution C A exon_variant ESAD-UK 3 49147760 49147760 single base substitution C A missense_variant V1004L 3010G>T ESAD-UK 3 49147760 49147760 single base substitution C A missense_variant V1196L 3586G>T ESAD-UK 3 49147760 49147760 single base substitution C A missense_variant V1236L 3706G>T ESAD-UK 3 49147760 49147760 single base substitution C A missense_variant V1287L 3859G>T ESAD-UK 3 49147760 49147760 single base substitution C A missense_variant V1297L 3889G>T ESAD-UK 3 49147760 49147760 single base substitution C A missense_variant V1299L 3895G>T ESAD-UK 3 49148992 49148992 single base substitution G A downstream_gene_variant ESAD-UK 3 49148992 49148992 single base substitution G A missense_variant A1041V 3122C>T ESAD-UK 3 49148992 49148992 single base substitution G A missense_variant A1051V 3152C>T ESAD-UK 3 49148992 49148992 single base substitution G A missense_variant A1053V 3158C>T ESAD-UK 3 49148992 49148992 single base substitution G A missense_variant A758V 2273C>T ESAD-UK 3 49148992 49148992 single base substitution G A missense_variant A950V 2849C>T ESAD-UK 3 49148992 49148992 single base substitution G A missense_variant A990V 2969C>T ESAD-UK 3 49148992 49148992 single base substitution G A upstream_gene_variant ESAD-UK 3 49154389 49154389 single base substitution A G downstream_gene_variant ESAD-UK 3 49154389 49154389 single base substitution A G intron_variant ESAD-UK 3 49158350 49158350 single base substitution G T 5_prime_UTR_variant ESAD-UK 3 49158350 49158350 single base substitution G T exon_variant ESAD-UK 3 49158350 49158350 single base substitution G T upstream_gene_variant ESAD-UK 3 49158923 49158923 single base substitution G A upstream_gene_variant ESAD-UK 3 49160684 49160684 single base substitution C T upstream_gene_variant ESCA-CN 3 49154599 49154599 single base substitution C T downstream_gene_variant ESCA-CN 3 49154599 49154599 single base substitution C T exon_variant ESCA-CN 3 49154599 49154599 single base substitution C T intron_variant ESCA-CN 3 49154599 49154599 single base substitution C T missense_variant A205T 613G>A ESCA-CN 3 49154599 49154599 single base substitution C T missense_variant A253T 757G>A ESCA-CN 3 49154599 49154599 single base substitution C T missense_variant A258T 772G>A ESCA-CN 3 49154599 49154599 single base substitution C T missense_variant A268T 802G>A ESCA-CN 3 49154875 49154875 single base substitution G A downstream_gene_variant ESCA-CN 3 49154875 49154875 single base substitution G A exon_variant ESCA-CN 3 49154875 49154875 single base substitution G A intron_variant ESCA-CN 3 49154875 49154875 single base substitution G A missense_variant L139F 415C>T ESCA-CN 3 49154875 49154875 single base substitution G A missense_variant L186F 556C>T ESCA-CN 3 49154875 49154875 single base substitution G A missense_variant L201F 601C>T ESCA-CN 3 49154875 49154875 single base substitution G A missense_variant L7F 19C>T ESCA-CN 3 49154875 49154875 single base substitution G A upstream_gene_variant GACA-CN 3 49155481 49155481 single base substitution G A exon_variant GACA-CN 3 49155481 49155481 single base substitution G A intron_variant GACA-CN 3 49155481 49155481 single base substitution G A missense_variant S66F 197C>T GACA-CN 3 49155481 49155481 single base substitution G A upstream_gene_variant KIRC-US 3 49159423 49159423 single base substitution C T upstream_gene_variant KIRC-US 3 49160288 49160288 single base substitution G A upstream_gene_variant KIRP-US 3 49148708 49148708 single base substitution T A downstream_gene_variant KIRP-US 3 49148708 49148708 single base substitution T A missense_variant E1000V 2999A>T KIRP-US 3 49148708 49148708 single base substitution T A missense_variant E1040V 3119A>T KIRP-US 3 49148708 49148708 single base substitution T A missense_variant E1091V 3272A>T KIRP-US 3 49148708 49148708 single base substitution T A missense_variant E1101V 3302A>T KIRP-US 3 49148708 49148708 single base substitution T A missense_variant E1103V 3308A>T KIRP-US 3 49148708 49148708 single base substitution T A missense_variant E808V 2423A>T KIRP-US 3 49148708 49148708 single base substitution T A upstream_gene_variant KIRP-US 3 49148709 49148709 single base substitution C T downstream_gene_variant KIRP-US 3 49148709 49148709 single base substitution C T missense_variant E1000K 2998G>A KIRP-US 3 49148709 49148709 single base substitution C T missense_variant E1040K 3118G>A KIRP-US 3 49148709 49148709 single base substitution C T missense_variant E1091K 3271G>A KIRP-US 3 49148709 49148709 single base substitution C T missense_variant E1101K 3301G>A KIRP-US 3 49148709 49148709 single base substitution C T missense_variant E1103K 3307G>A KIRP-US 3 49148709 49148709 single base substitution C T missense_variant E808K 2422G>A KIRP-US 3 49148709 49148709 single base substitution C T upstream_gene_variant KIRP-US 3 49148785 49148785 deletion of <=200bp C - downstream_gene_variant KIRP-US 3 49148785 49148785 deletion of <=200bp C - frameshift_variant G1014 KIRP-US 3 49148785 49148785 deletion of <=200bp C - frameshift_variant G1065 KIRP-US 3 49148785 49148785 deletion of <=200bp C - frameshift_variant G1075 KIRP-US 3 49148785 49148785 deletion of <=200bp C - frameshift_variant G1077 KIRP-US 3 49148785 49148785 deletion of <=200bp C - frameshift_variant G782 KIRP-US 3 49148785 49148785 deletion of <=200bp C - frameshift_variant G974 KIRP-US 3 49148785 49148785 deletion of <=200bp C - upstream_gene_variant KIRP-US 3 49149414 49149414 single base substitution A G downstream_gene_variant KIRP-US 3 49149414 49149414 single base substitution A G missense_variant F650L 1948T>C KIRP-US 3 49149414 49149414 single base substitution A G missense_variant F842L 2524T>C KIRP-US 3 49149414 49149414 single base substitution A G missense_variant F882L 2644T>C KIRP-US 3 49149414 49149414 single base substitution A G missense_variant F933L 2797T>C KIRP-US 3 49149414 49149414 single base substitution A G missense_variant F943L 2827T>C KIRP-US 3 49149414 49149414 single base substitution A G missense_variant F945L 2833T>C KIRP-US 3 49149414 49149414 single base substitution A G upstream_gene_variant KIRP-US 3 49155544 49155544 single base substitution G A exon_variant KIRP-US 3 49155544 49155544 single base substitution G A intron_variant KIRP-US 3 49155544 49155544 single base substitution G A missense_variant S45F 134C>T KIRP-US 3 49155544 49155544 single base substitution G A upstream_gene_variant KIRP-US 3 49158999 49158999 single base substitution C T upstream_gene_variant KIRP-US 3 49159166 49159166 single base substitution G A upstream_gene_variant KIRP-US 3 49161312 49161312 single base substitution G C upstream_gene_variant LAML-KR 3 49156834 49156834 single base substitution A C intron_variant LAML-KR 3 49156834 49156834 single base substitution A C upstream_gene_variant LGG-US 3 49159715 49159715 single base substitution G A upstream_gene_variant LIAD-FR 3 49162747 49162747 single base substitution T A upstream_gene_variant LICA-FR 3 49147619 49147619 single base substitution G T exon_variant LICA-FR 3 49147619 49147619 single base substitution G T missense_variant Q1051K 3151C>A LICA-FR 3 49147619 49147619 single base substitution G T missense_variant Q1243K 3727C>A LICA-FR 3 49147619 49147619 single base substitution G T missense_variant Q1283K 3847C>A LICA-FR 3 49147619 49147619 single base substitution G T missense_variant Q1334K 4000C>A LICA-FR 3 49147619 49147619 single base substitution G T missense_variant Q1344K 4030C>A LICA-FR 3 49147619 49147619 single base substitution G T missense_variant Q1346K 4036C>A LICA-FR 3 49149745 49149745 single base substitution G A downstream_gene_variant LICA-FR 3 49149745 49149745 single base substitution G A missense_variant R618W 1852C>T LICA-FR 3 49149745 49149745 single base substitution G A missense_variant R810W 2428C>T LICA-FR 3 49149745 49149745 single base substitution G A missense_variant R850W 2548C>T LICA-FR 3 49149745 49149745 single base substitution G A missense_variant R901W 2701C>T LICA-FR 3 49149745 49149745 single base substitution G A missense_variant R911W 2731C>T LICA-FR 3 49149745 49149745 single base substitution G A missense_variant R913W 2737C>T LICA-FR 3 49149745 49149745 single base substitution G A upstream_gene_variant LICA-FR 3 49155467 49155467 single base substitution T C exon_variant LICA-FR 3 49155467 49155467 single base substitution T C intron_variant LICA-FR 3 49155467 49155467 single base substitution T C missense_variant I71V 211A>G LICA-FR 3 49155467 49155467 single base substitution T C upstream_gene_variant LICA-FR 3 49159195 49159195 single base substitution C T upstream_gene_variant LICA-FR 3 49162011 49162011 single base substitution C T upstream_gene_variant LIHC-US 3 49145886 49145886 single base substitution G A downstream_gene_variant LIHC-US 3 49145886 49145886 single base substitution G A missense_variant R1077W 3229C>T LIHC-US 3 49145886 49145886 single base substitution G A missense_variant R1309W 3925C>T LIHC-US 3 49145886 49145886 single base substitution G A missense_variant R1360W 4078C>T LIHC-US 3 49145886 49145886 single base substitution G A missense_variant R1372W 4114C>T LIHC-US 3 49149350 49149350 single base substitution T A downstream_gene_variant LIHC-US 3 49149350 49149350 single base substitution T A missense_variant Y671F 2012A>T LIHC-US 3 49149350 49149350 single base substitution T A missense_variant Y863F 2588A>T LIHC-US 3 49149350 49149350 single base substitution T A missense_variant Y903F 2708A>T LIHC-US 3 49149350 49149350 single base substitution T A missense_variant Y954F 2861A>T LIHC-US 3 49149350 49149350 single base substitution T A missense_variant Y964F 2891A>T LIHC-US 3 49149350 49149350 single base substitution T A missense_variant Y966F 2897A>T LIHC-US 3 49149350 49149350 single base substitution T A upstream_gene_variant LIHC-US 3 49151699 49151699 single base substitution G C downstream_gene_variant LIHC-US 3 49151699 49151699 single base substitution G C missense_variant P476A 1426C>G LIHC-US 3 49151699 49151699 single base substitution G C missense_variant P668A 2002C>G LIHC-US 3 49151699 49151699 single base substitution G C missense_variant P708A 2122C>G LIHC-US 3 49151699 49151699 single base substitution G C missense_variant P759A 2275C>G LIHC-US 3 49151699 49151699 single base substitution G C missense_variant P769A 2305C>G LIHC-US 3 49151699 49151699 single base substitution G C missense_variant P771A 2311C>G LIHC-US 3 49151699 49151699 single base substitution G C upstream_gene_variant LIHC-US 3 49152516 49152516 single base substitution C A downstream_gene_variant LIHC-US 3 49152516 49152516 single base substitution C A missense_variant G391V 1172G>T LIHC-US 3 49152516 49152516 single base substitution C A missense_variant G583V 1748G>T LIHC-US 3 49152516 49152516 single base substitution C A missense_variant G623V 1868G>T LIHC-US 3 49152516 49152516 single base substitution C A missense_variant G674V 2021G>T LIHC-US 3 49152516 49152516 single base substitution C A missense_variant G684V 2051G>T LIHC-US 3 49152516 49152516 single base substitution C A missense_variant G686V 2057G>T LIHC-US 3 49152516 49152516 single base substitution C A upstream_gene_variant LIHC-US 3 49152692 49152692 single base substitution G A downstream_gene_variant LIHC-US 3 49152692 49152692 single base substitution G A missense_variant T369I 1106C>T LIHC-US 3 49152692 49152692 single base substitution G A missense_variant T561I 1682C>T LIHC-US 3 49152692 49152692 single base substitution G A missense_variant T601I 1802C>T LIHC-US 3 49152692 49152692 single base substitution G A missense_variant T652I 1955C>T LIHC-US 3 49152692 49152692 single base substitution G A missense_variant T662I 1985C>T LIHC-US 3 49152692 49152692 single base substitution G A missense_variant T664I 1991C>T LIHC-US 3 49152692 49152692 single base substitution G A upstream_gene_variant LIHC-US 3 49153162 49153162 single base substitution C A downstream_gene_variant LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A268S 802G>T LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A460S 1378G>T LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A500S 1498G>T LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A548S 1642G>T LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A551S 1651G>T LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A561S 1681G>T LIHC-US 3 49153162 49153162 single base substitution C A missense_variant A563S 1687G>T LIHC-US 3 49153162 49153162 single base substitution C A upstream_gene_variant LIHC-US 3 49162918 49162918 single base substitution C A upstream_gene_variant LINC-JP 3 49140990 49140990 single base substitution T A downstream_gene_variant LINC-JP 3 49141007 49141007 single base substitution C A downstream_gene_variant LINC-JP 3 49141924 49141924 single base substitution G C downstream_gene_variant LINC-JP 3 49142002 49142002 single base substitution C T downstream_gene_variant LINC-JP 3 49143338 49143338 single base substitution G C downstream_gene_variant LINC-JP 3 49147738 49147738 single base substitution G A exon_variant LINC-JP 3 49147738 49147738 single base substitution G A missense_variant T1011M 3032C>T LINC-JP 3 49147738 49147738 single base substitution G A missense_variant T1203M 3608C>T LINC-JP 3 49147738 49147738 single base substitution G A missense_variant T1243M 3728C>T LINC-JP 3 49147738 49147738 single base substitution G A missense_variant T1294M 3881C>T LINC-JP 3 49147738 49147738 single base substitution G A missense_variant T1304M 3911C>T LINC-JP 3 49147738 49147738 single base substitution G A missense_variant T1306M 3917C>T LINC-JP 3 49148628 49148628 single base substitution C G downstream_gene_variant LINC-JP 3 49148628 49148628 single base substitution C G intron_variant LINC-JP 3 49148628 49148628 single base substitution C G upstream_gene_variant LINC-JP 3 49156569 49156569 single base substitution C T exon_variant LINC-JP 3 49156569 49156569 single base substitution C T missense_variant G4R 10G>A LINC-JP 3 49156569 49156569 single base substitution C T upstream_gene_variant LINC-JP 3 49156760 49156760 single base substitution C A intron_variant LINC-JP 3 49156760 49156760 single base substitution C A upstream_gene_variant LINC-JP 3 49160151 49160151 single base substitution T C upstream_gene_variant LINC-JP 3 49162111 49162111 single base substitution T C upstream_gene_variant LIRI-JP 3 49142676 49142676 single base substitution C T downstream_gene_variant LIRI-JP 3 49143570 49143570 single base substitution A G downstream_gene_variant LIRI-JP 3 49147065 49147065 single base substitution G C downstream_gene_variant LIRI-JP 3 49147065 49147065 single base substitution G C intron_variant LIRI-JP 3 49147502 49147502 single base substitution T C exon_variant LIRI-JP 3 49147502 49147502 single base substitution T C intron_variant LIRI-JP 3 49147726 49147726 single base substitution T C exon_variant LIRI-JP 3 49147726 49147726 single base substitution T C missense_variant Y1015C 3044A>G LIRI-JP 3 49147726 49147726 single base substitution T C missense_variant Y1207C 3620A>G LIRI-JP 3 49147726 49147726 single base substitution T C missense_variant Y1247C 3740A>G LIRI-JP 3 49147726 49147726 single base substitution T C missense_variant Y1298C 3893A>G LIRI-JP 3 49147726 49147726 single base substitution T C missense_variant Y1308C 3923A>G LIRI-JP 3 49147726 49147726 single base substitution T C missense_variant Y1310C 3929A>G LIRI-JP 3 49150228 49150228 single base substitution T C downstream_gene_variant LIRI-JP 3 49150228 49150228 single base substitution T C intron_variant LIRI-JP 3 49150228 49150228 single base substitution T C upstream_gene_variant LIRI-JP 3 49152165 49152165 single base substitution G A downstream_gene_variant LIRI-JP 3 49152165 49152165 single base substitution G A intron_variant LIRI-JP 3 49152165 49152165 single base substitution G A upstream_gene_variant LIRI-JP 3 49160700 49160700 single base substitution A G upstream_gene_variant LIRI-JP 3 49161295 49161295 single base substitution C T upstream_gene_variant LUSC-KR 3 49141116 49141116 single base substitution G A downstream_gene_variant LUSC-KR 3 49149691 49149691 single base substitution G C downstream_gene_variant LUSC-KR 3 49149691 49149691 single base substitution G C intron_variant LUSC-KR 3 49149691 49149691 single base substitution G C upstream_gene_variant LUSC-KR 3 49152641 49152641 single base substitution T C downstream_gene_variant LUSC-KR 3 49152641 49152641 single base substitution T C intron_variant LUSC-KR 3 49152641 49152641 single base substitution T C upstream_gene_variant LUSC-KR 3 49156473 49156473 single base substitution C G exon_variant LUSC-KR 3 49156473 49156473 single base substitution C G missense_variant D36H 106G>C LUSC-KR 3 49156473 49156473 single base substitution C G upstream_gene_variant LUSC-KR 3 49157750 49157750 single base substitution C A intron_variant LUSC-KR 3 49157750 49157750 single base substitution C A upstream_gene_variant LUSC-US 3 49146522 49146522 single base substitution G A downstream_gene_variant LUSC-US 3 49146522 49146522 single base substitution G A intron_variant LUSC-US 3 49146522 49146522 single base substitution G A missense_variant P1276S 3826C>T LUSC-US 3 49146522 49146522 single base substitution G A missense_variant P1316S 3946C>T LUSC-US 3 49146522 49146522 single base substitution G A missense_variant P1377S 4129C>T LUSC-US 3 49152898 49152898 deletion of <=200bp C - downstream_gene_variant LUSC-US 3 49152898 49152898 deletion of <=200bp C - frameshift_variant E328 LUSC-US 3 49152898 49152898 deletion of <=200bp C - frameshift_variant E520 LUSC-US 3 49152898 49152898 deletion of <=200bp C - frameshift_variant E560 LUSC-US 3 49152898 49152898 deletion of <=200bp C - frameshift_variant E611 LUSC-US 3 49152898 49152898 deletion of <=200bp C - frameshift_variant E621 LUSC-US 3 49152898 49152898 deletion of <=200bp C - frameshift_variant E623 LUSC-US 3 49152898 49152898 deletion of <=200bp C - upstream_gene_variant LUSC-US 3 49153267 49153267 single base substitution C A downstream_gene_variant LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V233L 697G>T LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V425L 1273G>T LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V465L 1393G>T LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V513L 1537G>T LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V516L 1546G>T LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V526L 1576G>T LUSC-US 3 49153267 49153267 single base substitution C A missense_variant V528L 1582G>T LUSC-US 3 49160961 49160961 single base substitution C A upstream_gene_variant LUSC-US 3 49161171 49161171 single base substitution C G upstream_gene_variant MALY-DE 3 49147003 49147003 single base substitution T A downstream_gene_variant MALY-DE 3 49147003 49147003 single base substitution T A intron_variant MALY-DE 3 49153747 49153747 single base substitution G C downstream_gene_variant MALY-DE 3 49153747 49153747 single base substitution G C exon_variant MALY-DE 3 49153747 49153747 single base substitution G C missense_variant P146A 436C>G MALY-DE 3 49153747 49153747 single base substitution G C missense_variant P340A 1018C>G MALY-DE 3 49153747 49153747 single base substitution G C missense_variant P378A 1132C>G MALY-DE 3 49153747 49153747 single base substitution G C missense_variant P426A 1276C>G MALY-DE 3 49153747 49153747 single base substitution G C missense_variant P431A 1291C>G MALY-DE 3 49153747 49153747 single base substitution G C missense_variant P441A 1321C>G MALY-DE 3 49161853 49161853 single base substitution C T upstream_gene_variant MELA-AU 3 49140696 49140696 single base substitution C T downstream_gene_variant MELA-AU 3 49140932 49140932 single base substitution G A downstream_gene_variant MELA-AU 3 49141230 49141230 single base substitution G A downstream_gene_variant MELA-AU 3 49141350 49141350 single base substitution G A downstream_gene_variant MELA-AU 3 49141503 49141503 single base substitution C T downstream_gene_variant MELA-AU 3 49142179 49142179 single base substitution G A downstream_gene_variant MELA-AU 3 49142346 49142346 single base substitution C T downstream_gene_variant MELA-AU 3 49143525 49143525 single base substitution C T downstream_gene_variant MELA-AU 3 49145881 49145881 single base substitution T C downstream_gene_variant MELA-AU 3 49145881 49145881 single base substitution T C synonymous_variant P1078P 3234A>G MELA-AU 3 49145881 49145881 single base substitution T C synonymous_variant P1310P 3930A>G MELA-AU 3 49145881 49145881 single base substitution T C synonymous_variant P1361P 4083A>G MELA-AU 3 49145881 49145881 single base substitution T C synonymous_variant P1373P 4119A>G MELA-AU 3 49145886 49145886 single base substitution G A downstream_gene_variant MELA-AU 3 49145886 49145886 single base substitution G A missense_variant R1077W 3229C>T MELA-AU 3 49145886 49145886 single base substitution G A missense_variant R1309W 3925C>T MELA-AU 3 49145886 49145886 single base substitution G A missense_variant R1360W 4078C>T MELA-AU 3 49145886 49145886 single base substitution G A missense_variant R1372W 4114C>T MELA-AU 3 49145953 49145953 single base substitution G A downstream_gene_variant MELA-AU 3 49145953 49145953 single base substitution G A synonymous_variant G1054G 3162C>T MELA-AU 3 49145953 49145953 single base substitution G A synonymous_variant G1286G 3858C>T MELA-AU 3 49145953 49145953 single base substitution G A synonymous_variant G1337G 4011C>T MELA-AU 3 49145953 49145953 single base substitution G A synonymous_variant G1349G 4047C>T MELA-AU 3 49146236 49146236 single base substitution G A 3_prime_UTR_variant MELA-AU 3 49146236 49146236 single base substitution G A downstream_gene_variant MELA-AU 3 49146236 49146236 single base substitution G A intron_variant MELA-AU 3 49146750 49146750 single base substitution G A downstream_gene_variant MELA-AU 3 49146750 49146750 single base substitution G A intron_variant MELA-AU 3 49146919 49146919 single base substitution G A downstream_gene_variant MELA-AU 3 49146919 49146919 single base substitution G A intron_variant MELA-AU 3 49148221 49148221 single base substitution G A downstream_gene_variant MELA-AU 3 49148221 49148221 single base substitution G A synonymous_variant I1104I 3312C>T MELA-AU 3 49148221 49148221 single base substitution G A synonymous_variant I1144I 3432C>T MELA-AU 3 49148221 49148221 single base substitution G A synonymous_variant I1195I 3585C>T MELA-AU 3 49148221 49148221 single base substitution G A synonymous_variant I1205I 3615C>T MELA-AU 3 49148221 49148221 single base substitution G A synonymous_variant I1207I 3621C>T MELA-AU 3 49148221 49148221 single base substitution G A synonymous_variant I912I 2736C>T MELA-AU 3 49148221 49148221 single base substitution G A upstream_gene_variant MELA-AU 3 49148968 49148968 single base substitution G A downstream_gene_variant MELA-AU 3 49148968 49148968 single base substitution G A missense_variant S1049F 3146C>T MELA-AU 3 49148968 49148968 single base substitution G A missense_variant S1059F 3176C>T MELA-AU 3 49148968 49148968 single base substitution G A missense_variant S1061F 3182C>T MELA-AU 3 49148968 49148968 single base substitution G A missense_variant S766F 2297C>T MELA-AU 3 49148968 49148968 single base substitution G A missense_variant S958F 2873C>T MELA-AU 3 49148968 49148968 single base substitution G A missense_variant S998F 2993C>T MELA-AU 3 49148968 49148968 single base substitution G A upstream_gene_variant MELA-AU 3 49149411 49149411 single base substitution G A downstream_gene_variant MELA-AU 3 49149411 49149411 single base substitution G A synonymous_variant L651L 1951C>T MELA-AU 3 49149411 49149411 single base substitution G A synonymous_variant L843L 2527C>T MELA-AU 3 49149411 49149411 single base substitution G A synonymous_variant L883L 2647C>T MELA-AU 3 49149411 49149411 single base substitution G A synonymous_variant L934L 2800C>T MELA-AU 3 49149411 49149411 single base substitution G A synonymous_variant L944L 2830C>T MELA-AU 3 49149411 49149411 single base substitution G A synonymous_variant L946L 2836C>T MELA-AU 3 49149411 49149411 single base substitution G A upstream_gene_variant MELA-AU 3 49149488 49149488 single base substitution G A downstream_gene_variant MELA-AU 3 49149488 49149488 single base substitution G A splice_region_variant MELA-AU 3 49149488 49149488 single base substitution G A upstream_gene_variant MELA-AU 3 49149653 49149653 single base substitution G A downstream_gene_variant MELA-AU 3 49149653 49149653 single base substitution G A intron_variant MELA-AU 3 49149653 49149653 single base substitution G A upstream_gene_variant MELA-AU 3 49150559 49150559 single base substitution G A downstream_gene_variant MELA-AU 3 49150559 49150559 single base substitution G A intron_variant MELA-AU 3 49150559 49150559 single base substitution G A upstream_gene_variant MELA-AU 3 49150773 49150773 single base substitution G A downstream_gene_variant MELA-AU 3 49150773 49150773 single base substitution G A intron_variant MELA-AU 3 49150773 49150773 single base substitution G A upstream_gene_variant MELA-AU 3 49150900 49150900 single base substitution G A downstream_gene_variant MELA-AU 3 49150900 49150900 single base substitution G A intron_variant MELA-AU 3 49150900 49150900 single base substitution G A upstream_gene_variant MELA-AU 3 49150980 49150981 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49150980 49150981 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49150980 49150981 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49151414 49151414 single base substitution G A downstream_gene_variant MELA-AU 3 49151414 49151414 single base substitution G A intron_variant MELA-AU 3 49151414 49151414 single base substitution G A upstream_gene_variant MELA-AU 3 49151729 49151729 single base substitution G T downstream_gene_variant MELA-AU 3 49151729 49151729 single base substitution G T intron_variant MELA-AU 3 49151729 49151729 single base substitution G T upstream_gene_variant MELA-AU 3 49151761 49151761 single base substitution G A downstream_gene_variant MELA-AU 3 49151761 49151761 single base substitution G A intron_variant MELA-AU 3 49151761 49151761 single base substitution G A upstream_gene_variant MELA-AU 3 49151795 49151795 single base substitution G A downstream_gene_variant MELA-AU 3 49151795 49151795 single base substitution G A intron_variant MELA-AU 3 49151795 49151795 single base substitution G A upstream_gene_variant MELA-AU 3 49151853 49151853 single base substitution G A downstream_gene_variant MELA-AU 3 49151853 49151853 single base substitution G A intron_variant MELA-AU 3 49151853 49151853 single base substitution G A upstream_gene_variant MELA-AU 3 49151872 49151872 single base substitution G A downstream_gene_variant MELA-AU 3 49151872 49151872 single base substitution G A intron_variant MELA-AU 3 49151872 49151872 single base substitution G A upstream_gene_variant MELA-AU 3 49151882 49151882 single base substitution G A downstream_gene_variant MELA-AU 3 49151882 49151882 single base substitution G A intron_variant MELA-AU 3 49151882 49151882 single base substitution G A upstream_gene_variant MELA-AU 3 49152456 49152456 single base substitution T G downstream_gene_variant MELA-AU 3 49152456 49152456 single base substitution T G missense_variant D411A 1232A>C MELA-AU 3 49152456 49152456 single base substitution T G missense_variant D603A 1808A>C MELA-AU 3 49152456 49152456 single base substitution T G missense_variant D643A 1928A>C MELA-AU 3 49152456 49152456 single base substitution T G missense_variant D694A 2081A>C MELA-AU 3 49152456 49152456 single base substitution T G missense_variant D704A 2111A>C MELA-AU 3 49152456 49152456 single base substitution T G missense_variant D706A 2117A>C MELA-AU 3 49152456 49152456 single base substitution T G upstream_gene_variant MELA-AU 3 49152621 49152621 single base substitution C T downstream_gene_variant MELA-AU 3 49152621 49152621 single base substitution C T intron_variant MELA-AU 3 49152621 49152621 single base substitution C T upstream_gene_variant MELA-AU 3 49154787 49154787 single base substitution G A downstream_gene_variant MELA-AU 3 49154787 49154787 single base substitution G A exon_variant MELA-AU 3 49154787 49154787 single base substitution G A intron_variant MELA-AU 3 49154787 49154787 single base substitution G A missense_variant P142L 425C>T MELA-AU 3 49154787 49154787 single base substitution G A missense_variant P190L 569C>T MELA-AU 3 49154787 49154787 single base substitution G A missense_variant P195L 584C>T MELA-AU 3 49154787 49154787 single base substitution G A missense_variant P205L 614C>T MELA-AU 3 49154787 49154787 single base substitution G A missense_variant P2L 5C>T MELA-AU 3 49154924 49154924 single base substitution G A 5_prime_UTR_variant MELA-AU 3 49154924 49154924 single base substitution G A downstream_gene_variant MELA-AU 3 49154924 49154924 single base substitution G A exon_variant MELA-AU 3 49154924 49154924 single base substitution G A intron_variant MELA-AU 3 49154924 49154924 single base substitution G A synonymous_variant L122L 366C>T MELA-AU 3 49154924 49154924 single base substitution G A synonymous_variant L169L 507C>T MELA-AU 3 49154924 49154924 single base substitution G A synonymous_variant L184L 552C>T MELA-AU 3 49154924 49154924 single base substitution G A upstream_gene_variant MELA-AU 3 49155008 49155008 single base substitution G A downstream_gene_variant MELA-AU 3 49155008 49155008 single base substitution G A intron_variant MELA-AU 3 49155008 49155008 single base substitution G A splice_region_variant MELA-AU 3 49155008 49155008 single base substitution G A upstream_gene_variant MELA-AU 3 49156191 49156191 single base substitution G A intron_variant MELA-AU 3 49156191 49156191 single base substitution G A upstream_gene_variant MELA-AU 3 49156574 49156574 single base substitution G A exon_variant MELA-AU 3 49156574 49156574 single base substitution G A missense_variant S2F 5C>T MELA-AU 3 49156574 49156574 single base substitution G A upstream_gene_variant MELA-AU 3 49158250 49158250 single base substitution C T 5_prime_UTR_variant MELA-AU 3 49158250 49158250 single base substitution C T exon_variant MELA-AU 3 49158250 49158250 single base substitution C T upstream_gene_variant MELA-AU 3 49158251 49158251 single base substitution C T 5_prime_UTR_variant MELA-AU 3 49158251 49158251 single base substitution C T exon_variant MELA-AU 3 49158251 49158251 single base substitution C T upstream_gene_variant MELA-AU 3 49158321 49158321 single base substitution T C 5_prime_UTR_variant MELA-AU 3 49158321 49158321 single base substitution T C exon_variant MELA-AU 3 49158321 49158321 single base substitution T C upstream_gene_variant MELA-AU 3 49159015 49159015 single base substitution C T upstream_gene_variant MELA-AU 3 49159418 49159418 deletion of <=200bp C - upstream_gene_variant MELA-AU 3 49159531 49159531 single base substitution G A upstream_gene_variant MELA-AU 3 49159981 49159981 single base substitution G A upstream_gene_variant MELA-AU 3 49160161 49160161 single base substitution G A upstream_gene_variant MELA-AU 3 49160572 49160572 single base substitution T A upstream_gene_variant MELA-AU 3 49160678 49160678 single base substitution G A upstream_gene_variant MELA-AU 3 49160753 49160753 single base substitution G A upstream_gene_variant MELA-AU 3 49161253 49161253 single base substitution C T upstream_gene_variant MELA-AU 3 49161409 49161409 single base substitution G A upstream_gene_variant MELA-AU 3 49161465 49161466 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49162610 49162610 single base substitution G A upstream_gene_variant MELA-AU 3 49162792 49162792 single base substitution G A upstream_gene_variant MELA-AU 3 49162952 49162952 single base substitution G A upstream_gene_variant MELA-AU 3 49163134 49163134 single base substitution G A upstream_gene_variant NBL-US 3 49160486 49160486 single base substitution C A upstream_gene_variant ORCA-IN 3 49142071 49142071 single base substitution C A downstream_gene_variant ORCA-IN 3 49143358 49143358 single base substitution A G downstream_gene_variant ORCA-IN 3 49151882 49151882 single base substitution G A downstream_gene_variant ORCA-IN 3 49151882 49151882 single base substitution G A intron_variant ORCA-IN 3 49151882 49151882 single base substitution G A upstream_gene_variant ORCA-IN 3 49152550 49152550 single base substitution C A downstream_gene_variant ORCA-IN 3 49152550 49152550 single base substitution C A missense_variant A380S 1138G>T ORCA-IN 3 49152550 49152550 single base substitution C A missense_variant A572S 1714G>T ORCA-IN 3 49152550 49152550 single base substitution C A missense_variant A612S 1834G>T ORCA-IN 3 49152550 49152550 single base substitution C A missense_variant A663S 1987G>T ORCA-IN 3 49152550 49152550 single base substitution C A missense_variant A673S 2017G>T ORCA-IN 3 49152550 49152550 single base substitution C A missense_variant A675S 2023G>T ORCA-IN 3 49152550 49152550 single base substitution C A upstream_gene_variant ORCA-IN 3 49159239 49159239 single base substitution C T upstream_gene_variant ORCA-IN 3 49159376 49159376 single base substitution C A upstream_gene_variant ORCA-IN 3 49159704 49159704 single base substitution G A upstream_gene_variant OV-AU 3 49141473 49141473 single base substitution C A downstream_gene_variant OV-AU 3 49142250 49142250 single base substitution C T downstream_gene_variant OV-AU 3 49162592 49162592 single base substitution C A upstream_gene_variant OV-AU 3 49162593 49162593 single base substitution A C upstream_gene_variant OV-US 3 49148251 49148251 single base substitution C A downstream_gene_variant OV-US 3 49148251 49148251 single base substitution C A synonymous_variant L1094L 3282G>T OV-US 3 49148251 49148251 single base substitution C A synonymous_variant L1134L 3402G>T OV-US 3 49148251 49148251 single base substitution C A synonymous_variant L1185L 3555G>T OV-US 3 49148251 49148251 single base substitution C A synonymous_variant L1195L 3585G>T OV-US 3 49148251 49148251 single base substitution C A synonymous_variant L1197L 3591G>T OV-US 3 49148251 49148251 single base substitution C A synonymous_variant L902L 2706G>T OV-US 3 49148251 49148251 single base substitution C A upstream_gene_variant OV-US 3 49148453 49148453 single base substitution C T downstream_gene_variant OV-US 3 49148453 49148453 single base substitution C T missense_variant G1056S 3166G>A OV-US 3 49148453 49148453 single base substitution C T missense_variant G1096S 3286G>A OV-US 3 49148453 49148453 single base substitution C T missense_variant G1147S 3439G>A OV-US 3 49148453 49148453 single base substitution C T missense_variant G1157S 3469G>A OV-US 3 49148453 49148453 single base substitution C T missense_variant G1159S 3475G>A OV-US 3 49148453 49148453 single base substitution C T missense_variant G864S 2590G>A OV-US 3 49148453 49148453 single base substitution C T upstream_gene_variant OV-US 3 49153262 49153262 single base substitution C T downstream_gene_variant OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E234E 702G>A OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E426E 1278G>A OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E466E 1398G>A OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E514E 1542G>A OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E517E 1551G>A OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E527E 1581G>A OV-US 3 49153262 49153262 single base substitution C T synonymous_variant E529E 1587G>A OV-US 3 49154036 49154036 single base substitution G A downstream_gene_variant OV-US 3 49154036 49154036 single base substitution G A exon_variant OV-US 3 49154036 49154036 single base substitution G A synonymous_variant P276P 828C>T OV-US 3 49154036 49154036 single base substitution G A synonymous_variant P314P 942C>T OV-US 3 49154036 49154036 single base substitution G A synonymous_variant P362P 1086C>T OV-US 3 49154036 49154036 single base substitution G A synonymous_variant P367P 1101C>T OV-US 3 49154036 49154036 single base substitution G A synonymous_variant P377P 1131C>T OV-US 3 49154036 49154036 single base substitution G A synonymous_variant P82P 246C>T OV-US 3 49159423 49159423 single base substitution C G upstream_gene_variant PACA-AU 3 49141457 49141457 single base substitution C T downstream_gene_variant PACA-AU 3 49147680 49147680 insertion of <=200bp - G exon_variant PACA-AU 3 49147680 49147680 insertion of <=200bp - G frameshift_variant P1030P? PACA-AU 3 49147680 49147680 insertion of <=200bp - G frameshift_variant P1222P? PACA-AU 3 49147680 49147680 insertion of <=200bp - G frameshift_variant P1262P? PACA-AU 3 49147680 49147680 insertion of <=200bp - G frameshift_variant P1313P? PACA-AU 3 49147680 49147680 insertion of <=200bp - G frameshift_variant P1323P? PACA-AU 3 49147680 49147680 insertion of <=200bp - G frameshift_variant P1325P? PACA-AU 3 49150049 49150049 single base substitution C A downstream_gene_variant PACA-AU 3 49150049 49150049 single base substitution C A missense_variant R545L 1634G>T PACA-AU 3 49150049 49150049 single base substitution C A missense_variant R737L 2210G>T PACA-AU 3 49150049 49150049 single base substitution C A missense_variant R777L 2330G>T PACA-AU 3 49150049 49150049 single base substitution C A missense_variant R828L 2483G>T PACA-AU 3 49150049 49150049 single base substitution C A missense_variant R838L 2513G>T PACA-AU 3 49150049 49150049 single base substitution C A missense_variant R840L 2519G>T PACA-AU 3 49150049 49150049 single base substitution C A upstream_gene_variant PACA-AU 3 49151673 49151673 single base substitution C G downstream_gene_variant PACA-AU 3 49151673 49151673 single base substitution C G missense_variant L484F 1452G>C PACA-AU 3 49151673 49151673 single base substitution C G missense_variant L676F 2028G>C PACA-AU 3 49151673 49151673 single base substitution C G missense_variant L716F 2148G>C PACA-AU 3 49151673 49151673 single base substitution C G missense_variant L767F 2301G>C PACA-AU 3 49151673 49151673 single base substitution C G missense_variant L777F 2331G>C PACA-AU 3 49151673 49151673 single base substitution C G missense_variant L779F 2337G>C PACA-AU 3 49151673 49151673 single base substitution C G upstream_gene_variant PACA-AU 3 49156034 49156034 single base substitution A G intron_variant PACA-AU 3 49156034 49156034 single base substitution A G upstream_gene_variant PACA-AU 3 49158118 49158118 single base substitution G C intron_variant PACA-AU 3 49158118 49158118 single base substitution G C upstream_gene_variant PACA-AU 3 49160780 49160780 deletion of <=200bp G - upstream_gene_variant PACA-CA 3 49140823 49140823 single base substitution C A downstream_gene_variant PACA-CA 3 49141073 49141073 single base substitution G A downstream_gene_variant PACA-CA 3 49143004 49143004 single base substitution C T downstream_gene_variant PACA-CA 3 49144212 49144212 single base substitution G A downstream_gene_variant PACA-CA 3 49147067 49147067 single base substitution C T downstream_gene_variant PACA-CA 3 49147067 49147067 single base substitution C T intron_variant PACA-CA 3 49149158 49149158 single base substitution T C downstream_gene_variant PACA-CA 3 49149158 49149158 single base substitution T C missense_variant T703A 2107A>G PACA-CA 3 49149158 49149158 single base substitution T C missense_variant T895A 2683A>G PACA-CA 3 49149158 49149158 single base substitution T C missense_variant T935A 2803A>G PACA-CA 3 49149158 49149158 single base substitution T C missense_variant T986A 2956A>G PACA-CA 3 49149158 49149158 single base substitution T C missense_variant T996A 2986A>G PACA-CA 3 49149158 49149158 single base substitution T C missense_variant T998A 2992A>G PACA-CA 3 49149158 49149158 single base substitution T C upstream_gene_variant PACA-CA 3 49150048 49150048 single base substitution A C downstream_gene_variant PACA-CA 3 49150048 49150048 single base substitution A C synonymous_variant R545R 1635T>G PACA-CA 3 49150048 49150048 single base substitution A C synonymous_variant R737R 2211T>G PACA-CA 3 49150048 49150048 single base substitution A C synonymous_variant R777R 2331T>G PACA-CA 3 49150048 49150048 single base substitution A C synonymous_variant R828R 2484T>G PACA-CA 3 49150048 49150048 single base substitution A C synonymous_variant R838R 2514T>G PACA-CA 3 49150048 49150048 single base substitution A C synonymous_variant R840R 2520T>G PACA-CA 3 49150048 49150048 single base substitution A C upstream_gene_variant PACA-CA 3 49152460 49152460 single base substitution C G downstream_gene_variant PACA-CA 3 49152460 49152460 single base substitution C G missense_variant E410Q 1228G>C PACA-CA 3 49152460 49152460 single base substitution C G missense_variant E602Q 1804G>C PACA-CA 3 49152460 49152460 single base substitution C G missense_variant E642Q 1924G>C PACA-CA 3 49152460 49152460 single base substitution C G missense_variant E693Q 2077G>C PACA-CA 3 49152460 49152460 single base substitution C G missense_variant E703Q 2107G>C PACA-CA 3 49152460 49152460 single base substitution C G missense_variant E705Q 2113G>C PACA-CA 3 49152460 49152460 single base substitution C G upstream_gene_variant PACA-CA 3 49153294 49153294 deletion of <=200bp G - downstream_gene_variant PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L224 PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L416 PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L456 PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L504 PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L507 PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L517 PACA-CA 3 49153294 49153294 deletion of <=200bp G - frameshift_variant L519 PACA-CA 3 49153902 49153902 single base substitution G A downstream_gene_variant PACA-CA 3 49153902 49153902 single base substitution G A exon_variant PACA-CA 3 49153902 49153902 single base substitution G A missense_variant T127M 380C>T PACA-CA 3 49153902 49153902 single base substitution G A missense_variant T321M 962C>T PACA-CA 3 49153902 49153902 single base substitution G A missense_variant T359M 1076C>T PACA-CA 3 49153902 49153902 single base substitution G A missense_variant T407M 1220C>T PACA-CA 3 49153902 49153902 single base substitution G A missense_variant T412M 1235C>T PACA-CA 3 49153902 49153902 single base substitution G A missense_variant T422M 1265C>T PACA-CA 3 49156428 49156428 single base substitution C A intron_variant PACA-CA 3 49156428 49156428 single base substitution C A upstream_gene_variant PACA-CA 3 49160123 49160123 single base substitution C T upstream_gene_variant PACA-CA 3 49161295 49161295 single base substitution C T upstream_gene_variant PBCA-DE 3 49145545 49145545 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 3 49145545 49145545 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 49145566 49145566 deletion of <=200bp A - 3_prime_UTR_variant PBCA-DE 3 49145566 49145566 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 49147561 49147561 single base substitution G A exon_variant PBCA-DE 3 49147561 49147561 single base substitution G A intron_variant PBCA-DE 3 49152224 49152224 single base substitution G A downstream_gene_variant PBCA-DE 3 49152224 49152224 single base substitution G A missense_variant S460L 1379C>T PBCA-DE 3 49152224 49152224 single base substitution G A missense_variant S652L 1955C>T PBCA-DE 3 49152224 49152224 single base substitution G A missense_variant S692L 2075C>T PBCA-DE 3 49152224 49152224 single base substitution G A missense_variant S743L 2228C>T PBCA-DE 3 49152224 49152224 single base substitution G A missense_variant S753L 2258C>T PBCA-DE 3 49152224 49152224 single base substitution G A missense_variant S755L 2264C>T PBCA-DE 3 49152224 49152224 single base substitution G A upstream_gene_variant PRAD-CA 3 49142179 49142179 single base substitution G A downstream_gene_variant PRAD-CA 3 49142763 49142763 single base substitution G A downstream_gene_variant PRAD-UK 3 49151556 49151556 single base substitution G A downstream_gene_variant PRAD-UK 3 49151556 49151556 single base substitution G A intron_variant PRAD-UK 3 49151556 49151556 single base substitution G A upstream_gene_variant PRAD-US 3 49140801 49140801 single base substitution T C downstream_gene_variant PRAD-US 3 49147711 49147711 single base substitution C A exon_variant PRAD-US 3 49147711 49147711 single base substitution C A missense_variant R1020L 3059G>T PRAD-US 3 49147711 49147711 single base substitution C A missense_variant R1212L 3635G>T PRAD-US 3 49147711 49147711 single base substitution C A missense_variant R1252L 3755G>T PRAD-US 3 49147711 49147711 single base substitution C A missense_variant R1303L 3908G>T PRAD-US 3 49147711 49147711 single base substitution C A missense_variant R1313L 3938G>T PRAD-US 3 49147711 49147711 single base substitution C A missense_variant R1315L 3944G>T PRAD-US 3 49154755 49154755 single base substitution G A downstream_gene_variant PRAD-US 3 49154755 49154755 single base substitution G A exon_variant PRAD-US 3 49154755 49154755 single base substitution G A intron_variant PRAD-US 3 49154755 49154755 single base substitution G A missense_variant R13W 37C>T PRAD-US 3 49154755 49154755 single base substitution G A missense_variant R153W 457C>T PRAD-US 3 49154755 49154755 single base substitution G A missense_variant R201W 601C>T PRAD-US 3 49154755 49154755 single base substitution G A missense_variant R206W 616C>T PRAD-US 3 49154755 49154755 single base substitution G A missense_variant R216W 646C>T PRAD-US 3 49161296 49161296 single base substitution G A upstream_gene_variant READ-US 3 49146603 49146603 insertion of <=200bp - C downstream_gene_variant READ-US 3 49146603 49146603 insertion of <=200bp - C frameshift_variant Q1249R? READ-US 3 49146603 49146603 insertion of <=200bp - C frameshift_variant Q1289R? READ-US 3 49146603 49146603 insertion of <=200bp - C frameshift_variant Q1350R? READ-US 3 49146603 49146603 insertion of <=200bp - C intron_variant READ-US 3 49153327 49153327 single base substitution C T downstream_gene_variant READ-US 3 49153327 49153327 single base substitution C T missense_variant D213N 637G>A READ-US 3 49153327 49153327 single base substitution C T missense_variant D405N 1213G>A READ-US 3 49153327 49153327 single base substitution C T missense_variant D445N 1333G>A READ-US 3 49153327 49153327 single base substitution C T missense_variant D493N 1477G>A READ-US 3 49153327 49153327 single base substitution C T missense_variant D496N 1486G>A READ-US 3 49153327 49153327 single base substitution C T missense_variant D506N 1516G>A READ-US 3 49153327 49153327 single base substitution C T missense_variant D508N 1522G>A READ-US 3 49162351 49162351 single base substitution T C upstream_gene_variant RECA-EU 3 49158402 49158402 single base substitution G C upstream_gene_variant SKCA-BR 3 49143096 49143101 deletion of <=200bp AAAAAG - downstream_gene_variant SKCA-BR 3 49143673 49143673 single base substitution G A downstream_gene_variant SKCA-BR 3 49146480 49146480 single base substitution G A downstream_gene_variant SKCA-BR 3 49146480 49146480 single base substitution G A intron_variant SKCA-BR 3 49146480 49146480 single base substitution G A missense_variant R1290W 3868C>T SKCA-BR 3 49146480 49146480 single base substitution G A missense_variant R1330W 3988C>T SKCA-BR 3 49146480 49146480 single base substitution G A missense_variant R1391W 4171C>T SKCA-BR 3 49151022 49151022 single base substitution T G downstream_gene_variant SKCA-BR 3 49151022 49151022 single base substitution T G intron_variant SKCA-BR 3 49151022 49151022 single base substitution T G upstream_gene_variant SKCA-BR 3 49151029 49151029 single base substitution C A downstream_gene_variant SKCA-BR 3 49151029 49151029 single base substitution C A intron_variant SKCA-BR 3 49151029 49151029 single base substitution C A upstream_gene_variant SKCA-BR 3 49151693 49151693 single base substitution G A downstream_gene_variant SKCA-BR 3 49151693 49151693 single base substitution G A missense_variant L478F 1432C>T SKCA-BR 3 49151693 49151693 single base substitution G A missense_variant L670F 2008C>T SKCA-BR 3 49151693 49151693 single base substitution G A missense_variant L710F 2128C>T SKCA-BR 3 49151693 49151693 single base substitution G A missense_variant L761F 2281C>T SKCA-BR 3 49151693 49151693 single base substitution G A missense_variant L771F 2311C>T SKCA-BR 3 49151693 49151693 single base substitution G A missense_variant L773F 2317C>T SKCA-BR 3 49151693 49151693 single base substitution G A upstream_gene_variant SKCA-BR 3 49151775 49151775 single base substitution A C downstream_gene_variant SKCA-BR 3 49151775 49151775 single base substitution A C intron_variant SKCA-BR 3 49151775 49151775 single base substitution A C upstream_gene_variant SKCA-BR 3 49152356 49152356 single base substitution C A downstream_gene_variant SKCA-BR 3 49152356 49152356 single base substitution C A intron_variant SKCA-BR 3 49152356 49152356 single base substitution C A upstream_gene_variant SKCA-BR 3 49157771 49157771 single base substitution G A intron_variant SKCA-BR 3 49157771 49157771 single base substitution G A upstream_gene_variant SKCA-BR 3 49158043 49158043 single base substitution C T exon_variant SKCA-BR 3 49158043 49158043 single base substitution C T intron_variant SKCA-BR 3 49158043 49158043 single base substitution C T upstream_gene_variant SKCA-BR 3 49158332 49158332 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 49158332 49158332 single base substitution C T exon_variant SKCA-BR 3 49158332 49158332 single base substitution C T upstream_gene_variant SKCA-BR 3 49159080 49159080 single base substitution A C upstream_gene_variant SKCA-BR 3 49159807 49159807 single base substitution T A upstream_gene_variant SKCA-BR 3 49162406 49162406 single base substitution A C upstream_gene_variant SKCM-US 3 49140834 49140834 single base substitution G A downstream_gene_variant SKCM-US 3 49146461 49146461 single base substitution G A downstream_gene_variant SKCM-US 3 49146461 49146461 single base substitution G A intron_variant SKCM-US 3 49146461 49146461 single base substitution G A missense_variant T1296I 3887C>T SKCM-US 3 49146461 49146461 single base substitution G A missense_variant T1336I 4007C>T SKCM-US 3 49146461 49146461 single base substitution G A missense_variant T1397I 4190C>T SKCM-US 3 49148196 49148196 single base substitution G A downstream_gene_variant SKCM-US 3 49148196 49148196 single base substitution G A missense_variant R1113C 3337C>T SKCM-US 3 49148196 49148196 single base substitution G A missense_variant R1153C 3457C>T SKCM-US 3 49148196 49148196 single base substitution G A missense_variant R1204C 3610C>T SKCM-US 3 49148196 49148196 single base substitution G A missense_variant R1214C 3640C>T SKCM-US 3 49148196 49148196 single base substitution G A missense_variant R1216C 3646C>T SKCM-US 3 49148196 49148196 single base substitution G A missense_variant R921C 2761C>T SKCM-US 3 49148196 49148196 single base substitution G A upstream_gene_variant SKCM-US 3 49148460 49148460 single base substitution G A downstream_gene_variant SKCM-US 3 49148460 49148460 single base substitution G A synonymous_variant A1053A 3159C>T SKCM-US 3 49148460 49148460 single base substitution G A synonymous_variant A1093A 3279C>T SKCM-US 3 49148460 49148460 single base substitution G A synonymous_variant A1144A 3432C>T SKCM-US 3 49148460 49148460 single base substitution G A synonymous_variant A1154A 3462C>T SKCM-US 3 49148460 49148460 single base substitution G A synonymous_variant A1156A 3468C>T SKCM-US 3 49148460 49148460 single base substitution G A synonymous_variant A861A 2583C>T SKCM-US 3 49148460 49148460 single base substitution G A upstream_gene_variant SKCM-US 3 49148963 49148963 single base substitution G C downstream_gene_variant SKCM-US 3 49148963 49148963 single base substitution G C missense_variant P1000A 2998C>G SKCM-US 3 49148963 49148963 single base substitution G C missense_variant P1051A 3151C>G SKCM-US 3 49148963 49148963 single base substitution G C missense_variant P1061A 3181C>G SKCM-US 3 49148963 49148963 single base substitution G C missense_variant P1063A 3187C>G SKCM-US 3 49148963 49148963 single base substitution G C missense_variant P768A 2302C>G SKCM-US 3 49148963 49148963 single base substitution G C missense_variant P960A 2878C>G SKCM-US 3 49148963 49148963 single base substitution G C upstream_gene_variant SKCM-US 3 49148967 49148967 single base substitution G A downstream_gene_variant SKCM-US 3 49148967 49148967 single base substitution G A synonymous_variant S1049S 3147C>T SKCM-US 3 49148967 49148967 single base substitution G A synonymous_variant S1059S 3177C>T SKCM-US 3 49148967 49148967 single base substitution G A synonymous_variant S1061S 3183C>T SKCM-US 3 49148967 49148967 single base substitution G A synonymous_variant S766S 2298C>T SKCM-US 3 49148967 49148967 single base substitution G A synonymous_variant S958S 2874C>T SKCM-US 3 49148967 49148967 single base substitution G A synonymous_variant S998S 2994C>T SKCM-US 3 49148967 49148967 single base substitution G A upstream_gene_variant SKCM-US 3 49148998 49148998 single base substitution A C downstream_gene_variant SKCM-US 3 49148998 49148998 single base substitution A C missense_variant M1039R 3116T>G SKCM-US 3 49148998 49148998 single base substitution A C missense_variant M1049R 3146T>G SKCM-US 3 49148998 49148998 single base substitution A C missense_variant M1051R 3152T>G SKCM-US 3 49148998 49148998 single base substitution A C missense_variant M756R 2267T>G SKCM-US 3 49148998 49148998 single base substitution A C missense_variant M948R 2843T>G SKCM-US 3 49148998 49148998 single base substitution A C missense_variant M988R 2963T>G SKCM-US 3 49148998 49148998 single base substitution A C upstream_gene_variant SKCM-US 3 49149058 49149058 single base substitution C T downstream_gene_variant SKCM-US 3 49149058 49149058 single base substitution C T missense_variant R1019Q 3056G>A SKCM-US 3 49149058 49149058 single base substitution C T missense_variant R1029Q 3086G>A SKCM-US 3 49149058 49149058 single base substitution C T missense_variant R1031Q 3092G>A SKCM-US 3 49149058 49149058 single base substitution C T missense_variant R736Q 2207G>A SKCM-US 3 49149058 49149058 single base substitution C T missense_variant R928Q 2783G>A SKCM-US 3 49149058 49149058 single base substitution C T missense_variant R968Q 2903G>A SKCM-US 3 49149058 49149058 single base substitution C T upstream_gene_variant SKCM-US 3 49149122 49149122 single base substitution G A downstream_gene_variant SKCM-US 3 49149122 49149122 single base substitution G A missense_variant P1008S 3022C>T SKCM-US 3 49149122 49149122 single base substitution G A missense_variant P1010S 3028C>T SKCM-US 3 49149122 49149122 single base substitution G A missense_variant P715S 2143C>T SKCM-US 3 49149122 49149122 single base substitution G A missense_variant P907S 2719C>T SKCM-US 3 49149122 49149122 single base substitution G A missense_variant P947S 2839C>T SKCM-US 3 49149122 49149122 single base substitution G A missense_variant P998S 2992C>T SKCM-US 3 49149122 49149122 single base substitution G A upstream_gene_variant SKCM-US 3 49149150 49149150 single base substitution G A downstream_gene_variant SKCM-US 3 49149150 49149150 single base substitution G A synonymous_variant S1000S 3000C>T SKCM-US 3 49149150 49149150 single base substitution G A synonymous_variant S705S 2115C>T SKCM-US 3 49149150 49149150 single base substitution G A synonymous_variant S897S 2691C>T SKCM-US 3 49149150 49149150 single base substitution G A synonymous_variant S937S 2811C>T SKCM-US 3 49149150 49149150 single base substitution G A synonymous_variant S988S 2964C>T SKCM-US 3 49149150 49149150 single base substitution G A synonymous_variant S998S 2994C>T SKCM-US 3 49149150 49149150 single base substitution G A upstream_gene_variant SKCM-US 3 49149153 49149153 single base substitution A G downstream_gene_variant SKCM-US 3 49149153 49149153 single base substitution A G synonymous_variant G704G 2112T>C SKCM-US 3 49149153 49149153 single base substitution A G synonymous_variant G896G 2688T>C SKCM-US 3 49149153 49149153 single base substitution A G synonymous_variant G936G 2808T>C SKCM-US 3 49149153 49149153 single base substitution A G synonymous_variant G987G 2961T>C SKCM-US 3 49149153 49149153 single base substitution A G synonymous_variant G997G 2991T>C SKCM-US 3 49149153 49149153 single base substitution A G synonymous_variant G999G 2997T>C SKCM-US 3 49149153 49149153 single base substitution A G upstream_gene_variant SKCM-US 3 49149411 49149411 single base substitution G A downstream_gene_variant SKCM-US 3 49149411 49149411 single base substitution G A synonymous_variant L651L 1951C>T SKCM-US 3 49149411 49149411 single base substitution G A synonymous_variant L843L 2527C>T SKCM-US 3 49149411 49149411 single base substitution G A synonymous_variant L883L 2647C>T SKCM-US 3 49149411 49149411 single base substitution G A synonymous_variant L934L 2800C>T SKCM-US 3 49149411 49149411 single base substitution G A synonymous_variant L944L 2830C>T SKCM-US 3 49149411 49149411 single base substitution G A synonymous_variant L946L 2836C>T SKCM-US 3 49149411 49149411 single base substitution G A upstream_gene_variant SKCM-US 3 49150050 49150050 single base substitution G A downstream_gene_variant SKCM-US 3 49150050 49150050 single base substitution G A missense_variant R545C 1633C>T SKCM-US 3 49150050 49150050 single base substitution G A missense_variant R737C 2209C>T SKCM-US 3 49150050 49150050 single base substitution G A missense_variant R777C 2329C>T SKCM-US 3 49150050 49150050 single base substitution G A missense_variant R828C 2482C>T SKCM-US 3 49150050 49150050 single base substitution G A missense_variant R838C 2512C>T SKCM-US 3 49150050 49150050 single base substitution G A missense_variant R840C 2518C>T SKCM-US 3 49150050 49150050 single base substitution G A upstream_gene_variant SKCM-US 3 49151470 49151470 single base substitution G A downstream_gene_variant SKCM-US 3 49151470 49151470 single base substitution G A synonymous_variant L525L 1575C>T SKCM-US 3 49151470 49151470 single base substitution G A synonymous_variant L717L 2151C>T SKCM-US 3 49151470 49151470 single base substitution G A synonymous_variant L757L 2271C>T SKCM-US 3 49151470 49151470 single base substitution G A synonymous_variant L808L 2424C>T SKCM-US 3 49151470 49151470 single base substitution G A synonymous_variant L818L 2454C>T SKCM-US 3 49151470 49151470 single base substitution G A synonymous_variant L820L 2460C>T SKCM-US 3 49151470 49151470 single base substitution G A upstream_gene_variant SKCM-US 3 49152456 49152456 single base substitution T G downstream_gene_variant SKCM-US 3 49152456 49152456 single base substitution T G missense_variant D411A 1232A>C SKCM-US 3 49152456 49152456 single base substitution T G missense_variant D603A 1808A>C SKCM-US 3 49152456 49152456 single base substitution T G missense_variant D643A 1928A>C SKCM-US 3 49152456 49152456 single base substitution T G missense_variant D694A 2081A>C SKCM-US 3 49152456 49152456 single base substitution T G missense_variant D704A 2111A>C SKCM-US 3 49152456 49152456 single base substitution T G missense_variant D706A 2117A>C SKCM-US 3 49152456 49152456 single base substitution T G upstream_gene_variant SKCM-US 3 49152671 49152671 single base substitution G A downstream_gene_variant SKCM-US 3 49152671 49152671 single base substitution G A missense_variant S376F 1127C>T SKCM-US 3 49152671 49152671 single base substitution G A missense_variant S568F 1703C>T SKCM-US 3 49152671 49152671 single base substitution G A missense_variant S608F 1823C>T SKCM-US 3 49152671 49152671 single base substitution G A missense_variant S659F 1976C>T SKCM-US 3 49152671 49152671 single base substitution G A missense_variant S669F 2006C>T SKCM-US 3 49152671 49152671 single base substitution G A missense_variant S671F 2012C>T SKCM-US 3 49152671 49152671 single base substitution G A upstream_gene_variant SKCM-US 3 49152779 49152779 single base substitution G C downstream_gene_variant SKCM-US 3 49152779 49152779 single base substitution G C missense_variant A340G 1019C>G SKCM-US 3 49152779 49152779 single base substitution G C missense_variant A532G 1595C>G SKCM-US 3 49152779 49152779 single base substitution G C missense_variant A572G 1715C>G SKCM-US 3 49152779 49152779 single base substitution G C missense_variant A623G 1868C>G SKCM-US 3 49152779 49152779 single base substitution G C missense_variant A633G 1898C>G SKCM-US 3 49152779 49152779 single base substitution G C missense_variant A635G 1904C>G SKCM-US 3 49152779 49152779 single base substitution G C upstream_gene_variant SKCM-US 3 49154881 49154881 single base substitution G A downstream_gene_variant SKCM-US 3 49154881 49154881 single base substitution G A exon_variant SKCM-US 3 49154881 49154881 single base substitution G A intron_variant SKCM-US 3 49154881 49154881 single base substitution G A missense_variant P137S 409C>T SKCM-US 3 49154881 49154881 single base substitution G A missense_variant P184S 550C>T SKCM-US 3 49154881 49154881 single base substitution G A missense_variant P199S 595C>T SKCM-US 3 49154881 49154881 single base substitution G A missense_variant P5S 13C>T SKCM-US 3 49154881 49154881 single base substitution G A upstream_gene_variant SKCM-US 3 49154907 49154907 single base substitution G A 5_prime_UTR_variant SKCM-US 3 49154907 49154907 single base substitution G A downstream_gene_variant SKCM-US 3 49154907 49154907 single base substitution G A exon_variant SKCM-US 3 49154907 49154907 single base substitution G A intron_variant SKCM-US 3 49154907 49154907 single base substitution G A missense_variant P128L 383C>T SKCM-US 3 49154907 49154907 single base substitution G A missense_variant P175L 524C>T SKCM-US 3 49154907 49154907 single base substitution G A missense_variant P190L 569C>T SKCM-US 3 49154907 49154907 single base substitution G A upstream_gene_variant SKCM-US 3 49154918 49154918 single base substitution G A 5_prime_UTR_variant SKCM-US 3 49154918 49154918 single base substitution G A downstream_gene_variant SKCM-US 3 49154918 49154918 single base substitution G A exon_variant SKCM-US 3 49154918 49154918 single base substitution G A intron_variant SKCM-US 3 49154918 49154918 single base substitution G A synonymous_variant H124H 372C>T SKCM-US 3 49154918 49154918 single base substitution G A synonymous_variant H171H 513C>T SKCM-US 3 49154918 49154918 single base substitution G A synonymous_variant H186H 558C>T SKCM-US 3 49154918 49154918 single base substitution G A upstream_gene_variant SKCM-US 3 49155168 49155168 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 49155168 49155168 single base substitution G A downstream_gene_variant SKCM-US 3 49155168 49155168 single base substitution G A exon_variant SKCM-US 3 49155168 49155168 single base substitution G A missense_variant R117C 349C>T SKCM-US 3 49155168 49155168 single base substitution G A missense_variant R132C 394C>T SKCM-US 3 49155168 49155168 single base substitution G A missense_variant R70C 208C>T SKCM-US 3 49155168 49155168 single base substitution G A upstream_gene_variant SKCM-US 3 49155249 49155249 single base substitution G A downstream_gene_variant SKCM-US 3 49155249 49155249 single base substitution G A exon_variant SKCM-US 3 49155249 49155249 single base substitution G A intron_variant SKCM-US 3 49155249 49155249 single base substitution G A missense_variant P105S 313C>T SKCM-US 3 49155249 49155249 single base substitution G A upstream_gene_variant SKCM-US 3 49155497 49155497 single base substitution G A exon_variant SKCM-US 3 49155497 49155497 single base substitution G A intron_variant SKCM-US 3 49155497 49155497 single base substitution G A missense_variant P61S 181C>T SKCM-US 3 49155497 49155497 single base substitution G A upstream_gene_variant SKCM-US 3 49156456 49156456 single base substitution T C splice_region_variant SKCM-US 3 49156456 49156456 single base substitution T C upstream_gene_variant SKCM-US 3 49159020 49159020 single base substitution T C upstream_gene_variant SKCM-US 3 49159424 49159424 single base substitution G C upstream_gene_variant SKCM-US 3 49160884 49160884 single base substitution G A upstream_gene_variant SKCM-US 3 49161226 49161226 single base substitution G A upstream_gene_variant SKCM-US 3 49161487 49161487 single base substitution G A upstream_gene_variant SKCM-US 3 49161987 49161987 single base substitution G A upstream_gene_variant SKCM-US 3 49162246 49162246 single base substitution G A upstream_gene_variant SKCM-US 3 49162318 49162318 single base substitution G A upstream_gene_variant SKCM-US 3 49162535 49162535 single base substitution G A upstream_gene_variant SKCM-US 3 49162711 49162711 single base substitution G A upstream_gene_variant STAD-US 3 49141346 49141346 single base substitution G A downstream_gene_variant STAD-US 3 49146401 49146401 single base substitution C T downstream_gene_variant STAD-US 3 49146401 49146401 single base substitution C T intron_variant STAD-US 3 49146401 49146401 single base substitution C T missense_variant R1316H 3947G>A STAD-US 3 49146401 49146401 single base substitution C T missense_variant R1356H 4067G>A STAD-US 3 49146401 49146401 single base substitution C T missense_variant R1417H 4250G>A STAD-US 3 49147938 49147938 single base substitution A G exon_variant STAD-US 3 49147938 49147938 single base substitution A G synonymous_variant G1163G 3489T>C STAD-US 3 49147938 49147938 single base substitution A G synonymous_variant G1203G 3609T>C STAD-US 3 49147938 49147938 single base substitution A G synonymous_variant G1254G 3762T>C STAD-US 3 49147938 49147938 single base substitution A G synonymous_variant G1264G 3792T>C STAD-US 3 49147938 49147938 single base substitution A G synonymous_variant G1266G 3798T>C STAD-US 3 49147938 49147938 single base substitution A G synonymous_variant G971G 2913T>C STAD-US 3 49148537 49148537 single base substitution G A downstream_gene_variant STAD-US 3 49148537 49148537 single base substitution G A missense_variant R1028C 3082C>T STAD-US 3 49148537 49148537 single base substitution G A missense_variant R1068C 3202C>T STAD-US 3 49148537 49148537 single base substitution G A missense_variant R1119C 3355C>T STAD-US 3 49148537 49148537 single base substitution G A missense_variant R1129C 3385C>T STAD-US 3 49148537 49148537 single base substitution G A missense_variant R1131C 3391C>T STAD-US 3 49148537 49148537 single base substitution G A missense_variant R836C 2506C>T STAD-US 3 49148537 49148537 single base substitution G A upstream_gene_variant STAD-US 3 49148577 49148577 single base substitution A G downstream_gene_variant STAD-US 3 49148577 49148577 single base substitution A G synonymous_variant G1014G 3042T>C STAD-US 3 49148577 49148577 single base substitution A G synonymous_variant G1054G 3162T>C STAD-US 3 49148577 49148577 single base substitution A G synonymous_variant G1105G 3315T>C STAD-US 3 49148577 49148577 single base substitution A G synonymous_variant G1115G 3345T>C STAD-US 3 49148577 49148577 single base substitution A G synonymous_variant G1117G 3351T>C STAD-US 3 49148577 49148577 single base substitution A G synonymous_variant G822G 2466T>C STAD-US 3 49148577 49148577 single base substitution A G upstream_gene_variant STAD-US 3 49148735 49148735 single base substitution A C downstream_gene_variant STAD-US 3 49148735 49148735 single base substitution A C missense_variant I1031S 3092T>G STAD-US 3 49148735 49148735 single base substitution A C missense_variant I1082S 3245T>G STAD-US 3 49148735 49148735 single base substitution A C missense_variant I1092S 3275T>G STAD-US 3 49148735 49148735 single base substitution A C missense_variant I1094S 3281T>G STAD-US 3 49148735 49148735 single base substitution A C missense_variant I799S 2396T>G STAD-US 3 49148735 49148735 single base substitution A C missense_variant I991S 2972T>G STAD-US 3 49148735 49148735 single base substitution A C upstream_gene_variant STAD-US 3 49148785 49148785 single base substitution C T downstream_gene_variant STAD-US 3 49148785 49148785 single base substitution C T synonymous_variant G1014G 3042G>A STAD-US 3 49148785 49148785 single base substitution C T synonymous_variant G1065G 3195G>A STAD-US 3 49148785 49148785 single base substitution C T synonymous_variant G1075G 3225G>A STAD-US 3 49148785 49148785 single base substitution C T synonymous_variant G1077G 3231G>A STAD-US 3 49148785 49148785 single base substitution C T synonymous_variant G782G 2346G>A STAD-US 3 49148785 49148785 single base substitution C T synonymous_variant G974G 2922G>A STAD-US 3 49148785 49148785 single base substitution C T upstream_gene_variant STAD-US 3 49148936 49148936 single base substitution C T downstream_gene_variant STAD-US 3 49148936 49148936 single base substitution C T missense_variant E1009K 3025G>A STAD-US 3 49148936 49148936 single base substitution C T missense_variant E1060K 3178G>A STAD-US 3 49148936 49148936 single base substitution C T missense_variant E1070K 3208G>A STAD-US 3 49148936 49148936 single base substitution C T missense_variant E1072K 3214G>A STAD-US 3 49148936 49148936 single base substitution C T missense_variant E777K 2329G>A STAD-US 3 49148936 49148936 single base substitution C T missense_variant E969K 2905G>A STAD-US 3 49148936 49148936 single base substitution C T upstream_gene_variant STAD-US 3 49149019 49149019 single base substitution G T downstream_gene_variant STAD-US 3 49149019 49149019 single base substitution G T missense_variant T1032N 3095C>A STAD-US 3 49149019 49149019 single base substitution G T missense_variant T1042N 3125C>A STAD-US 3 49149019 49149019 single base substitution G T missense_variant T1044N 3131C>A STAD-US 3 49149019 49149019 single base substitution G T missense_variant T749N 2246C>A STAD-US 3 49149019 49149019 single base substitution G T missense_variant T941N 2822C>A STAD-US 3 49149019 49149019 single base substitution G T missense_variant T981N 2942C>A STAD-US 3 49149019 49149019 single base substitution G T upstream_gene_variant STAD-US 3 49149178 49149178 single base substitution C A downstream_gene_variant STAD-US 3 49149178 49149178 single base substitution C A missense_variant G696V 2087G>T STAD-US 3 49149178 49149178 single base substitution C A missense_variant G888V 2663G>T STAD-US 3 49149178 49149178 single base substitution C A missense_variant G928V 2783G>T STAD-US 3 49149178 49149178 single base substitution C A missense_variant G979V 2936G>T STAD-US 3 49149178 49149178 single base substitution C A missense_variant G989V 2966G>T STAD-US 3 49149178 49149178 single base substitution C A missense_variant G991V 2972G>T STAD-US 3 49149178 49149178 single base substitution C A upstream_gene_variant STAD-US 3 49149205 49149205 single base substitution C T downstream_gene_variant STAD-US 3 49149205 49149205 single base substitution C T missense_variant R687H 2060G>A STAD-US 3 49149205 49149205 single base substitution C T missense_variant R879H 2636G>A STAD-US 3 49149205 49149205 single base substitution C T missense_variant R919H 2756G>A STAD-US 3 49149205 49149205 single base substitution C T missense_variant R970H 2909G>A STAD-US 3 49149205 49149205 single base substitution C T missense_variant R980H 2939G>A STAD-US 3 49149205 49149205 single base substitution C T missense_variant R982H 2945G>A STAD-US 3 49149205 49149205 single base substitution C T upstream_gene_variant STAD-US 3 49149374 49149374 single base substitution C T downstream_gene_variant STAD-US 3 49149374 49149374 single base substitution C T missense_variant R663H 1988G>A STAD-US 3 49149374 49149374 single base substitution C T missense_variant R855H 2564G>A STAD-US 3 49149374 49149374 single base substitution C T missense_variant R895H 2684G>A STAD-US 3 49149374 49149374 single base substitution C T missense_variant R946H 2837G>A STAD-US 3 49149374 49149374 single base substitution C T missense_variant R956H 2867G>A STAD-US 3 49149374 49149374 single base substitution C T missense_variant R958H 2873G>A STAD-US 3 49149374 49149374 single base substitution C T upstream_gene_variant STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - downstream_gene_variant STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - inframe_deletion LCF566 STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - inframe_deletion LCF758 STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - inframe_deletion LCF798 STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - inframe_deletion LCF849 STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - inframe_deletion LCF859 STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - inframe_deletion LCF861 STAD-US 3 49149979 49149987 deletion of <=200bp AAAGCAGAG - upstream_gene_variant STAD-US 3 49152280 49152280 single base substitution C T downstream_gene_variant STAD-US 3 49152280 49152280 single base substitution C T synonymous_variant R441R 1323G>A STAD-US 3 49152280 49152280 single base substitution C T synonymous_variant R633R 1899G>A STAD-US 3 49152280 49152280 single base substitution C T synonymous_variant R673R 2019G>A STAD-US 3 49152280 49152280 single base substitution C T synonymous_variant R724R 2172G>A STAD-US 3 49152280 49152280 single base substitution C T synonymous_variant R734R 2202G>A STAD-US 3 49152280 49152280 single base substitution C T synonymous_variant R736R 2208G>A STAD-US 3 49152280 49152280 single base substitution C T upstream_gene_variant STAD-US 3 49152674 49152674 single base substitution G T downstream_gene_variant STAD-US 3 49152674 49152674 single base substitution G T missense_variant P375H 1124C>A STAD-US 3 49152674 49152674 single base substitution G T missense_variant P567H 1700C>A STAD-US 3 49152674 49152674 single base substitution G T missense_variant P607H 1820C>A STAD-US 3 49152674 49152674 single base substitution G T missense_variant P658H 1973C>A STAD-US 3 49152674 49152674 single base substitution G T missense_variant P668H 2003C>A STAD-US 3 49152674 49152674 single base substitution G T missense_variant P670H 2009C>A STAD-US 3 49152674 49152674 single base substitution G T upstream_gene_variant STAD-US 3 49153200 49153200 single base substitution G T downstream_gene_variant STAD-US 3 49153200 49153200 single base substitution G T missense_variant P255H 764C>A STAD-US 3 49153200 49153200 single base substitution G T missense_variant P447H 1340C>A STAD-US 3 49153200 49153200 single base substitution G T missense_variant P487H 1460C>A STAD-US 3 49153200 49153200 single base substitution G T missense_variant P535H 1604C>A STAD-US 3 49153200 49153200 single base substitution G T missense_variant P538H 1613C>A STAD-US 3 49153200 49153200 single base substitution G T missense_variant P548H 1643C>A STAD-US 3 49153200 49153200 single base substitution G T missense_variant P550H 1649C>A STAD-US 3 49153503 49153503 deletion of <=200bp C - downstream_gene_variant STAD-US 3 49153503 49153503 deletion of <=200bp C - exon_variant STAD-US 3 49153503 49153503 deletion of <=200bp C - frameshift_variant G188 STAD-US 3 49153503 49153503 deletion of <=200bp C - frameshift_variant G382 STAD-US 3 49153503 49153503 deletion of <=200bp C - frameshift_variant G420 STAD-US 3 49153503 49153503 deletion of <=200bp C - frameshift_variant G468 STAD-US 3 49153503 49153503 deletion of <=200bp C - frameshift_variant G473 STAD-US 3 49153503 49153503 deletion of <=200bp C - frameshift_variant G483 STAD-US 3 49153503 49153503 insertion of <=200bp - C downstream_gene_variant STAD-US 3 49153503 49153503 insertion of <=200bp - C exon_variant STAD-US 3 49153503 49153503 insertion of <=200bp - C frameshift_variant G188G? STAD-US 3 49153503 49153503 insertion of <=200bp - C frameshift_variant G382G? STAD-US 3 49153503 49153503 insertion of <=200bp - C frameshift_variant G420G? STAD-US 3 49153503 49153503 insertion of <=200bp - C frameshift_variant G468G? STAD-US 3 49153503 49153503 insertion of <=200bp - C frameshift_variant G473G? STAD-US 3 49153503 49153503 insertion of <=200bp - C frameshift_variant G483G? STAD-US 3 49153556 49153556 single base substitution C T downstream_gene_variant STAD-US 3 49153556 49153556 single base substitution C T exon_variant STAD-US 3 49153556 49153556 single base substitution C T synonymous_variant T170T 510G>A STAD-US 3 49153556 49153556 single base substitution C T synonymous_variant T364T 1092G>A STAD-US 3 49153556 49153556 single base substitution C T synonymous_variant T402T 1206G>A STAD-US 3 49153556 49153556 single base substitution C T synonymous_variant T450T 1350G>A STAD-US 3 49153556 49153556 single base substitution C T synonymous_variant T455T 1365G>A STAD-US 3 49153556 49153556 single base substitution C T synonymous_variant T465T 1395G>A STAD-US 3 49156569 49156569 single base substitution C T exon_variant STAD-US 3 49156569 49156569 single base substitution C T missense_variant G4R 10G>A STAD-US 3 49156569 49156569 single base substitution C T upstream_gene_variant STAD-US 3 49159273 49159273 single base substitution A G upstream_gene_variant STAD-US 3 49159423 49159423 single base substitution C T upstream_gene_variant STAD-US 3 49159460 49159460 single base substitution C T upstream_gene_variant STAD-US 3 49159606 49159606 single base substitution G A upstream_gene_variant STAD-US 3 49159654 49159654 single base substitution G A upstream_gene_variant STAD-US 3 49159770 49159770 single base substitution A G upstream_gene_variant STAD-US 3 49160188 49160188 single base substitution C T upstream_gene_variant STAD-US 3 49160234 49160234 single base substitution C A upstream_gene_variant STAD-US 3 49160321 49160321 single base substitution C A upstream_gene_variant STAD-US 3 49160436 49160436 deletion of <=200bp C - upstream_gene_variant STAD-US 3 49160626 49160626 single base substitution C T upstream_gene_variant STAD-US 3 49160671 49160671 single base substitution T C upstream_gene_variant STAD-US 3 49160752 49160752 single base substitution C T upstream_gene_variant STAD-US 3 49161199 49161199 single base substitution G T upstream_gene_variant STAD-US 3 49161216 49161216 single base substitution G A upstream_gene_variant STAD-US 3 49161917 49161917 single base substitution C T upstream_gene_variant STAD-US 3 49162014 49162014 single base substitution C T upstream_gene_variant STAD-US 3 49162247 49162247 single base substitution G A upstream_gene_variant STAD-US 3 49162267 49162267 single base substitution A G upstream_gene_variant STAD-US 3 49162318 49162318 single base substitution G A upstream_gene_variant STAD-US 3 49163223 49163223 single base substitution G T upstream_gene_variant THCA-SA 3 49141116 49141116 single base substitution G A downstream_gene_variant THCA-SA 3 49142110 49142110 single base substitution C A downstream_gene_variant THCA-SA 3 49154326 49154326 single base substitution G A downstream_gene_variant THCA-SA 3 49154326 49154326 single base substitution G A exon_variant THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C219C 657C>T THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C257C 771C>T THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C25C 75C>T THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C305C 915C>T THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C310C 930C>T THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C320C 960C>T THCA-SA 3 49154326 49154326 single base substitution G A synonymous_variant C67C 201C>T THCA-SA 3 49156473 49156473 single base substitution C G exon_variant THCA-SA 3 49156473 49156473 single base substitution C G missense_variant D36H 106G>C THCA-SA 3 49156473 49156473 single base substitution C G upstream_gene_variant UCEC-US 3 49146509 49146509 single base substitution C T downstream_gene_variant UCEC-US 3 49146509 49146509 single base substitution C T intron_variant UCEC-US 3 49146509 49146509 single base substitution C T missense_variant G1280D 3839G>A UCEC-US 3 49146509 49146509 single base substitution C T missense_variant G1320D 3959G>A UCEC-US 3 49146509 49146509 single base substitution C T missense_variant G1381D 4142G>A UCEC-US 3 49147789 49147789 single base substitution C T exon_variant UCEC-US 3 49147789 49147789 single base substitution C T missense_variant R1186H 3557G>A UCEC-US 3 49147789 49147789 single base substitution C T missense_variant R1226H 3677G>A UCEC-US 3 49147789 49147789 single base substitution C T missense_variant R1277H 3830G>A UCEC-US 3 49147789 49147789 single base substitution C T missense_variant R1287H 3860G>A UCEC-US 3 49147789 49147789 single base substitution C T missense_variant R1289H 3866G>A UCEC-US 3 49147789 49147789 single base substitution C T missense_variant R994H 2981G>A UCEC-US 3 49148196 49148196 single base substitution G A downstream_gene_variant UCEC-US 3 49148196 49148196 single base substitution G A missense_variant R1113C 3337C>T UCEC-US 3 49148196 49148196 single base substitution G A missense_variant R1153C 3457C>T UCEC-US 3 49148196 49148196 single base substitution G A missense_variant R1204C 3610C>T UCEC-US 3 49148196 49148196 single base substitution G A missense_variant R1214C 3640C>T UCEC-US 3 49148196 49148196 single base substitution G A missense_variant R1216C 3646C>T UCEC-US 3 49148196 49148196 single base substitution G A missense_variant R921C 2761C>T UCEC-US 3 49148196 49148196 single base substitution G A upstream_gene_variant UCEC-US 3 49148292 49148292 single base substitution A G downstream_gene_variant UCEC-US 3 49148292 49148292 single base substitution A G missense_variant C1081R 3241T>C UCEC-US 3 49148292 49148292 single base substitution A G missense_variant C1121R 3361T>C UCEC-US 3 49148292 49148292 single base substitution A G missense_variant C1172R 3514T>C UCEC-US 3 49148292 49148292 single base substitution A G missense_variant C1182R 3544T>C UCEC-US 3 49148292 49148292 single base substitution A G missense_variant C1184R 3550T>C UCEC-US 3 49148292 49148292 single base substitution A G missense_variant C889R 2665T>C UCEC-US 3 49148292 49148292 single base substitution A G upstream_gene_variant UCEC-US 3 49149127 49149127 single base substitution C A downstream_gene_variant UCEC-US 3 49149127 49149127 single base substitution C A missense_variant R1006I 3017G>T UCEC-US 3 49149127 49149127 single base substitution C A missense_variant R1008I 3023G>T UCEC-US 3 49149127 49149127 single base substitution C A missense_variant R713I 2138G>T UCEC-US 3 49149127 49149127 single base substitution C A missense_variant R905I 2714G>T UCEC-US 3 49149127 49149127 single base substitution C A missense_variant R945I 2834G>T UCEC-US 3 49149127 49149127 single base substitution C A missense_variant R996I 2987G>T UCEC-US 3 49149127 49149127 single base substitution C A upstream_gene_variant UCEC-US 3 49151693 49151693 single base substitution G T downstream_gene_variant UCEC-US 3 49151693 49151693 single base substitution G T missense_variant L478I 1432C>A UCEC-US 3 49151693 49151693 single base substitution G T missense_variant L670I 2008C>A UCEC-US 3 49151693 49151693 single base substitution G T missense_variant L710I 2128C>A UCEC-US 3 49151693 49151693 single base substitution G T missense_variant L761I 2281C>A UCEC-US 3 49151693 49151693 single base substitution G T missense_variant L771I 2311C>A UCEC-US 3 49151693 49151693 single base substitution G T missense_variant L773I 2317C>A UCEC-US 3 49151693 49151693 single base substitution G T upstream_gene_variant UCEC-US 3 49152250 49152250 single base substitution C A downstream_gene_variant UCEC-US 3 49152250 49152250 single base substitution C A synonymous_variant V451V 1353G>T UCEC-US 3 49152250 49152250 single base substitution C A synonymous_variant V643V 1929G>T UCEC-US 3 49152250 49152250 single base substitution C A synonymous_variant V683V 2049G>T UCEC-US 3 49152250 49152250 single base substitution C A synonymous_variant V734V 2202G>T UCEC-US 3 49152250 49152250 single base substitution C A synonymous_variant V744V 2232G>T UCEC-US 3 49152250 49152250 single base substitution C A synonymous_variant V746V 2238G>T UCEC-US 3 49152250 49152250 single base substitution C A upstream_gene_variant UCEC-US 3 49152923 49152923 single base substitution G A downstream_gene_variant UCEC-US 3 49152923 49152923 single base substitution G A synonymous_variant V319V 957C>T UCEC-US 3 49152923 49152923 single base substitution G A synonymous_variant V511V 1533C>T UCEC-US 3 49152923 49152923 single base substitution G A synonymous_variant V551V 1653C>T UCEC-US 3 49152923 49152923 single base substitution G A synonymous_variant V602V 1806C>T UCEC-US 3 49152923 49152923 single base substitution G A synonymous_variant V612V 1836C>T UCEC-US 3 49152923 49152923 single base substitution G A synonymous_variant V614V 1842C>T UCEC-US 3 49152923 49152923 single base substitution G A upstream_gene_variant UCEC-US 3 49153548 49153548 single base substitution C T downstream_gene_variant UCEC-US 3 49153548 49153548 single base substitution C T exon_variant UCEC-US 3 49153548 49153548 single base substitution C T missense_variant R173H 518G>A UCEC-US 3 49153548 49153548 single base substitution C T missense_variant R367H 1100G>A UCEC-US 3 49153548 49153548 single base substitution C T missense_variant R405H 1214G>A UCEC-US 3 49153548 49153548 single base substitution C T missense_variant R453H 1358G>A UCEC-US 3 49153548 49153548 single base substitution C T missense_variant R458H 1373G>A UCEC-US 3 49153548 49153548 single base substitution C T missense_variant R468H 1403G>A UCEC-US 3 49153577 49153577 single base substitution C A downstream_gene_variant UCEC-US 3 49153577 49153577 single base substitution C A exon_variant UCEC-US 3 49153577 49153577 single base substitution C A missense_variant E163D 489G>T UCEC-US 3 49153577 49153577 single base substitution C A missense_variant E357D 1071G>T UCEC-US 3 49153577 49153577 single base substitution C A missense_variant E395D 1185G>T UCEC-US 3 49153577 49153577 single base substitution C A missense_variant E443D 1329G>T UCEC-US 3 49153577 49153577 single base substitution C A missense_variant E448D 1344G>T UCEC-US 3 49153577 49153577 single base substitution C A missense_variant E458D 1374G>T UCEC-US 3 49153595 49153595 single base substitution C T downstream_gene_variant UCEC-US 3 49153595 49153595 single base substitution C T splice_region_variant UCEC-US 3 49153966 49153966 single base substitution G A downstream_gene_variant UCEC-US 3 49153966 49153966 single base substitution G A exon_variant UCEC-US 3 49153966 49153966 single base substitution G A missense_variant H106Y 316C>T UCEC-US 3 49153966 49153966 single base substitution G A missense_variant H300Y 898C>T UCEC-US 3 49153966 49153966 single base substitution G A missense_variant H338Y 1012C>T UCEC-US 3 49153966 49153966 single base substitution G A missense_variant H386Y 1156C>T UCEC-US 3 49153966 49153966 single base substitution G A missense_variant H391Y 1171C>T UCEC-US 3 49153966 49153966 single base substitution G A missense_variant H401Y 1201C>T UCEC-US 3 49153998 49153998 single base substitution G A downstream_gene_variant UCEC-US 3 49153998 49153998 single base substitution G A exon_variant UCEC-US 3 49153998 49153998 single base substitution G A missense_variant S289L 866C>T UCEC-US 3 49153998 49153998 single base substitution G A missense_variant S327L 980C>T UCEC-US 3 49153998 49153998 single base substitution G A missense_variant S375L 1124C>T UCEC-US 3 49153998 49153998 single base substitution G A missense_variant S380L 1139C>T UCEC-US 3 49153998 49153998 single base substitution G A missense_variant S390L 1169C>T UCEC-US 3 49153998 49153998 single base substitution G A missense_variant S95L 284C>T UCEC-US 3 49154344 49154344 single base substitution C A downstream_gene_variant UCEC-US 3 49154344 49154344 single base substitution C A exon_variant UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P19P 57G>T UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P213P 639G>T UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P251P 753G>T UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P299P 897G>T UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P304P 912G>T UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P314P 942G>T UCEC-US 3 49154344 49154344 single base substitution C A synonymous_variant P61P 183G>T UCEC-US 3 49158714 49158714 single base substitution C T upstream_gene_variant UCEC-US 3 49159123 49159123 single base substitution A G upstream_gene_variant UCEC-US 3 49159213 49159213 single base substitution C T upstream_gene_variant UCEC-US 3 49159217 49159217 single base substitution A G upstream_gene_variant UCEC-US 3 49159505 49159505 single base substitution C T upstream_gene_variant UCEC-US 3 49159641 49159641 single base substitution T C upstream_gene_variant UCEC-US 3 49159693 49159693 single base substitution G A upstream_gene_variant UCEC-US 3 49160170 49160170 single base substitution C A upstream_gene_variant UCEC-US 3 49160347 49160347 single base substitution G A upstream_gene_variant UCEC-US 3 49160758 49160758 single base substitution T C upstream_gene_variant UCEC-US 3 49161025 49161025 single base substitution G A upstream_gene_variant UCEC-US 3 49161028 49161028 single base substitution C T upstream_gene_variant UCEC-US 3 49161680 49161680 single base substitution G A upstream_gene_variant UCEC-US 3 49162039 49162039 deletion of <=200bp G - upstream_gene_variant UCEC-US 3 49162782 49162782 single base substitution C T upstream_gene_variant UCEC-US 3 49162869 49162869 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Au6 COSM5606254 c.3222delA p.Q1076fs*16 Deletion - Frameshift 3:49111316-49111316 - 107393 COSM95438 c.274C>T p.P92S Substitution - Missense 3:49117971-49117971 - TCGA-13-1488-01 COSM81891 c.1542G>A p.E514E Substitution - coding silent 3:49115829-49115829 - Au4 COSM5605300 c.4002C>T p.G1334G Substitution - coding silent 3:49108520-49108520 - 19 COSM5746122 c.3031G>A p.D1011N Substitution - Missense 3:49111641-49111641 - TCGA-13-1497-01 COSM81892 c.1086C>T p.P362P Substitution - coding silent 3:49116603-49116603 - TCGA-CD-A4MG-01 COSM4118412 c.3186G>A p.G1062G Substitution - coding silent 3:49111352-49111352 - ME100L COSM230982 c.2283_2284GG>AA p.P761>? Complex 3:49114248-49114249 - 05-P8014 COSM4584451 c.12G>A p.G4G Substitution - coding silent 3:49119134-49119134 - HT115 COSM2849441 c.3202G>T p.E1068* Substitution - Nonsense 3:49111336-49111336 - TCGA-AA-3492-01 COSM5829725 c.125-3delT p.? Unknown 3:49118123-49118123 - PT37 COSM5918301 c.3074C>T p.P1025L Substitution - Missense 3:49111598-49111598 - TCGA-DM-A28F-01 COSM1423878 c.3432C>A p.G1144G Substitution - coding silent 3:49111018-49111018 - TCGA-AP-A0LN-01 COSM1046034 c.3601C>T p.R1201C Substitution - Missense 3:49110763-49110763 - TCGA-CI-6624-01 COSM3427698 c.1477G>A p.D493N Substitution - Missense 3:49115894-49115894 - TCGA-DK-A1A7-01 COSM419953 c.1124C>T p.S375L Substitution - Missense 3:49116565-49116565 - ccRCC-19 COSM1664909 c.2611G>C p.V871L Substitution - Missense 3:49112393-49112393 - pfg181T COSM4754779 c.2161C>T p.R721W Substitution - Missense 3:49114849-49114849 - PT35 COSM5912027 c.2479C>T p.H827Y Substitution - Missense 3:49112611-49112611 - TCGA-DA-A1HV-06 COSM3595198 c.3107T>G p.M1036R Substitution - Missense 3:49111565-49111565 - SW48 COSM2849407 c.3930delC p.R1311fs*11 Deletion - Frameshift 3:49110247-49110247 - 578 COSM3724107 c.396C>G p.F132L Substitution - Missense 3:49117688-49117688 - DLD1 COSM4625119 c.2830C>A p.L944I Substitution - Missense 3:49111939-49111939 - NOKSI COSM4595453 c.944C>T p.P315L Substitution - Missense 3:49116864-49116864 - TCGA-CM-4746-01 COSM1423888 c.2457G>A p.A819A Substitution - coding silent 3:49113995-49113995 - TCGA-AA-A010-01 COSM286384 c.2219C>T p.S740L Substitution - Missense 3:49114791-49114791 - CLN2 COSM2849421 c.3562C>T p.P1188S Substitution - Missense 3:49110802-49110802 - TCGA-EE-A3AB-06 COSM3595210 c.2072A>C p.D691A Substitution - Missense 3:49115023-49115023 - SA212 COSM213904 c.3286G>A p.D1096N Substitution - Missense 3:49111164-49111164 - CSCC-27-T COSM4489263 c.3407C>T p.S1136F Substitution - Missense 3:49111043-49111043 - SNU-175 COSM2849547 c.511C>T p.H171Y Substitution - Missense 3:49117487-49117487 - TCGA-BR-4184-01 COSM4118406 c.3346C>T p.R1116C Substitution - Missense 3:49111104-49111104 - TCGA-EU-5907-01 COSM480227 c.1004G>T p.R335L Substitution - Missense 3:49116804-49116804 - CSCC-31-T COSM4565644 c.234_235CC>TT p.R79W Substitution - Missense 3:49118010-49118011 - TCGA-AA-3663-01 COSM3696141 c.3999A>C p.L1333L Substitution - coding silent 3:49108523-49108523 - LUAD-S01357 COSM387326 c.1920G>T p.V640V Substitution - coding silent 3:49115285-49115285 - CSCC-41-T COSM4523499 c.1173G>A p.E391E Substitution - coding silent 3:49116516-49116516 - CSCC-41-T COSM4511166 c.814C>T p.P272S Substitution - Missense 3:49117109-49117109 - TCGA-GF-A6C9-06 COSM4900731 c.2415C>T p.L805L Substitution - coding silent 3:49114037-49114037 - LUAD-F00089 COSM339811 c.3331T>A p.W1111R Substitution - Missense 3:49111119-49111119 - 587220 COSM1231969 c.1296G>A p.W432* Substitution - Nonsense 3:49116294-49116294 - TCGA-BR-4201-01 COSM4118416 c.3086C>A p.T1029N Substitution - Missense 3:49111586-49111586 - DLD1 COSM2849498 c.1603C>A p.P535T Substitution - Missense 3:49115768-49115768 - TCGA-EE-A20C-06 COSM3595206 c.2791C>T p.L931L Substitution - coding silent 3:49111978-49111978 - BCM723T COSM4956496 c.2692C>T p.R898W Substitution - Missense 3:49112312-49112312 - T2269 COSM4739670 c.3151G>A p.E1051K Substitution - Missense 3:49111521-49111521 - TCGA-A8-A0A9-01 COSM446692 c.1598G>A p.R533H Substitution - Missense 3:49115773-49115773 - HCC162T COSM3660606 c.10G>A p.G4R Substitution - Missense 3:49119136-49119136 - sysucc-1370T COSM5471753 c.1928G>A p.R643Q Substitution - Missense 3:49115277-49115277 - TCGA-Q1-A73O-01 COSM4835073 c.3832G>A p.D1278N Substitution - Missense 3:49110345-49110345 - T1154 COSM1046046 c.491C>T p.T164I Substitution - Missense 3:49117507-49117507 - BCM489T COSM4790604 c.211A>G p.I71V Substitution - Missense 3:49118034-49118034 - CRC-02T COSM5455204 c.1917C>T p.A639A Substitution - coding silent 3:49115288-49115288 - TCGA-D1-A17B-01 COSM1046039 c.2193G>T p.V731V Substitution - coding silent 3:49114817-49114817 - TCGA-EE-A2GC-06 COSM3595194 c.3423C>T p.A1141A Substitution - coding silent 3:49111027-49111027 - 585210 COSM326831 c.2578G>T p.V860L Substitution - Missense 3:49112512-49112512 - TCGA-CH-5752-01 COSM1131410 c.3899G>T p.R1300L Substitution - Missense 3:49110278-49110278 - CSCC-27-T COSM4485463 c.2890C>T p.Q964* Substitution - Nonsense 3:49111782-49111782 - ESCC_BICR_036T COSM5432174 c.757G>A p.A253T Substitution - Missense 3:49117166-49117166 - cSCCP6 COSM136348 c.877G>T p.E293* Substitution - Nonsense 3:49116931-49116931 - YUROG COSM2849483 c.2108C>T p.T703I Substitution - Missense 3:49114987-49114987 - TCGA-D9-A4Z6-01 COSM3595192 c.3961C>T p.L1321L Substitution - coding silent 3:49110216-49110216 - TCGA-ER-A193-06 COSM3916254 c.3142C>G p.P1048A Substitution - Missense 3:49111530-49111530 - TCGA-B5-A0JY-01 COSM1046040 c.1797C>T p.V599V Substitution - coding silent 3:49115490-49115490 - PT49 COSM5934841 c.1622C>T p.P541L Substitution - Missense 3:49115749-49115749 - TCGA-EE-A3AG-06 COSM3595214 c.550C>T p.P184S Substitution - Missense 3:49117448-49117448 - S02297 COSM5689770 c.1471C>G p.P491A Substitution - Missense 3:49115900-49115900 - 8014573 COSM3392452 c.2292G>C p.L764F Substitution - Missense 3:49114240-49114240 - TCGA-23-1021-01 COSM76965 c.3430G>A p.G1144S Substitution - Missense 3:49111020-49111020 - TCGA-AP-A0LM-01 COSM1046037 c.2978G>T p.R993I Substitution - Missense 3:49111694-49111694 - TCGA-BR-6452-01 COSM4118410 c.3236T>G p.I1079S Substitution - Missense 3:49111302-49111302 - S02297 COSM5689766 c.1529C>G p.A510G Substitution - Missense 3:49115842-49115842 - CRC-9 COSM304571 c.493C>T p.R165C Substitution - Missense 3:49117505-49117505 - L18 COSM5369343 c.682C>T p.R228W Substitution - Missense 3:49117241-49117241 - S02297 COSM5689768 c.1526A>G p.E509G Substitution - Missense 3:49115845-49115845 - CSCC-11-T COSM4550716 c.462G>A p.E154E Substitution - coding silent 3:49117536-49117536 - 587336 COSM1231976 c.3302T>C p.L1101P Substitution - Missense 3:49111148-49111148 - TCGA-LP-A4AV-01 COSM4825312 c.1726G>C p.E576Q Substitution - Missense 3:49115561-49115561 - TCGA-BR-4361-01 COSM4118430 c.1350G>A p.T450T Substitution - coding silent 3:49116123-49116123 - T407 COSM4739677 c.1292G>A p.R431H Substitution - Missense 3:49116298-49116298 - ESO-083 COSM1270049 c.1205G>A p.R402H Substitution - Missense 3:49116484-49116484 - KPOPBR-03-T COSM5965066 c.2171T>C p.M724T Substitution - Missense 3:49114839-49114839 - KM12 COSM2849513 c.1116G>A p.K372K Substitution - coding silent 3:49116573-49116573 - TCGA-AB-2854-03 COSM1318665 c.58A>G p.T20A Substitution - Missense 3:49119088-49119088 - Pat_05_A COSM5864788 c.2398G>A p.E800K Substitution - Missense 3:49114054-49114054 - TCGA-AA-A010-01 COSM286383 c.2248G>A p.V750I Substitution - Missense 3:49114284-49114284 - D28 COSM5546097 c.507C>T p.L169L Substitution - coding silent 3:49117491-49117491 - TCGA-CC-A7IK-01 COSM4925073 c.2852A>T p.Y951F Substitution - Missense 3:49111917-49111917 - CHC736T COSM4950391 c.3991C>A p.Q1331K Substitution - Missense 3:49110186-49110186 - sysucc-834T COSM446692 c.1598G>A p.R533H Substitution - Missense 3:49115773-49115773 - Au6 COSM5606252 c.3227delA p.Q1076fs*16 Deletion - Frameshift 3:49111311-49111311 - TCGA-EE-A29E-06 COSM3595208 c.2473C>T p.R825C Substitution - Missense 3:49112617-49112617 - LS411 COSM2849488 c.2017G>A p.A673T Substitution - Missense 3:49115078-49115078 - TCGA-BR-7707-01 COSM4118428 c.1604C>A p.P535H Substitution - Missense 3:49115767-49115767 - TCGA-EE-A2GC-06 COSM3595202 c.2983C>T p.P995S Substitution - Missense 3:49111689-49111689 - LUAD-S01381 COSM398576 c.2714G>T p.C905F Substitution - Missense 3:49112290-49112290 - TCGA-FS-A4F9-06 COSM1046034 c.3601C>T p.R1201C Substitution - Missense 3:49110763-49110763 - pfg008T COSM1642292 c.1457C>T p.P486L Substitution - Missense 3:49115914-49115914 - ccRCC-26 COSM1665845 c.3662delA p.D1221fs*2 Deletion - Frameshift 3:49110596-49110596 - SC_9065 COSM5570691 c.354G>A p.V118V Substitution - coding silent 3:49117730-49117730 - T3080 COSM2849579 c.44delC p.P15fs*98 Deletion - Frameshift 3:49119102-49119102 - TCGA-A3-3363-01 COSM1495546 c.389C>T p.A130V Substitution - Missense 3:49117695-49117695 - TCGA-AP-A05A-01 COSM1046045 c.897G>T p.P299P Substitution - coding silent 3:49116911-49116911 - TCGA-ER-A19W-06 COSM4398660 c.1859C>G p.A620G Substitution - Missense 3:49115346-49115346 - TCGA-EV-5903-01 COSM3993145 c.134C>T p.S45F Substitution - Missense 3:49118111-49118111 - 587342 COSM1231982 c.1585A>G p.S529G Substitution - Missense 3:49115786-49115786 - TCGA-E2-A1LA-01 COSM190502 c.1989G>A p.A663A Substitution - coding silent 3:49115106-49115106 - BCM723T COSM4956496 c.2692C>T p.R898W Substitution - Missense 3:49112312-49112312 - tumor_4145056 COSM5950120 c.1276C>G p.P426A Substitution - Missense 3:49116314-49116314 - PD13302a COSM5783414 c.3239A>G p.Y1080C Substitution - Missense 3:49111299-49111299 - 587342 COSM1231980 c.2720+1G>A p.? Unknown 3:49112283-49112283 - LP6007533-DNA_A01 COSM5033026 c.3850G>T p.V1284L Substitution - Missense 3:49110327-49110327 - TCGA-60-2725-01 COSM731286 c.1537G>T p.V513L Substitution - Missense 3:49115834-49115834 - TCGA-BR-A4QL-01 COSM3660606 c.10G>A p.G4R Substitution - Missense 3:49119136-49119136 - T3021 COSM4739668 c.3215C>T p.A1072V Substitution - Missense 3:49111323-49111323 - ESO-859 COSM1240619 c.1846C>T p.R616C Substitution - Missense 3:49115359-49115359 - BD57T COSM5509929 c.3617G>A p.R1206H Substitution - Missense 3:49110747-49110747 - 53M COSM5595541 c.2945C>T p.S982F Substitution - Missense 3:49111727-49111727 - TCGA-BS-A0UF-01 COSM1046043 c.1311G>A p.R437R Substitution - coding silent 3:49116162-49116162 - TCGA-B0-5098-01 COSM1495548 c.1614T>C p.H538H Substitution - coding silent 3:49115757-49115757 - TCGA-D8-A1JA-01 COSM3824133 c.3911C>G p.S1304C Substitution - Missense 3:49110266-49110266 - RMS110_ COSM4987278 c.4060C>A p.P1354T Substitution - Missense 3:49108462-49108462 - TCGA-BR-8487-01 COSM4118414 c.3169G>A p.E1057K Substitution - Missense 3:49111503-49111503 - HCC162 COSM3660606 c.10G>A p.G4R Substitution - Missense 3:49119136-49119136 - TCGA-BR-6452-01 COSM4118408 c.3306T>C p.G1102G Substitution - coding silent 3:49111144-49111144 - CHOL02 COSM1744708 c.3157G>A p.V1053M Substitution - Missense 3:49111515-49111515 - TP_2060 COSM5560197 c.2956C>T p.L986L Substitution - coding silent 3:49111716-49111716 - TCGA-AP-A056-01 COSM1046033 c.3821G>A p.R1274H Substitution - Missense 3:49110356-49110356 - TCGA-LP-A4AV-01 COSM4825501 c.1666G>A p.V556M Substitution - Missense 3:49115621-49115621 - OSCC-GB_00530111 COSM4883500 c.1978G>T p.A660S Substitution - Missense 3:49115117-49115117 - 587374 COSM1231984 c.904T>A p.S302T Substitution - Missense 3:49116904-49116904 - DN120F1 COSM5770269 c.4028C>T p.P1343L Substitution - Missense 3:49108494-49108494 - TCGA-BR-4362-01 COSM4118420 c.2900G>A p.R967H Substitution - Missense 3:49111772-49111772 - CNE2 COSM4997193 c.3636G>T p.L1212F Substitution - Missense 3:49110728-49110728 - TCGA-EE-A182-06 COSM3595204 c.2952T>C p.G984G Substitution - coding silent 3:49111720-49111720 - TCGA-HU-8602-01 COSM4118424 c.2163G>A p.R721R Substitution - coding silent 3:49114847-49114847 - TCGA-AA-A00N-01 COSM278029 c.2382G>T p.E794D Substitution - Missense 3:49114070-49114070 - HCT15 COSM2849498 c.1603C>A p.P535T Substitution - Missense 3:49115768-49115768 - PD13163a COSM5770269 c.4028C>T p.P1343L Substitution - Missense 3:49108494-49108494 - UD-SCC-2 COSM4324985 c.1145C>T p.S382L Substitution - Missense 3:49116544-49116544 - B74-Tumor COSM4005567 c.2428C>T p.H810Y Substitution - Missense 3:49114024-49114024 - TCGA-BT-A20V-01 COSM419954 c.1741C>T p.L581L Substitution - coding silent 3:49115546-49115546 - GC7_T COSM3748821 c.197C>T p.S66F Substitution - Missense 3:49118048-49118048 - CHC736T COSM4950391 c.3991C>A p.Q1331K Substitution - Missense 3:49110186-49110186 - TCGA-AP-A059-01 COSM1046042 c.1329G>T p.E443D Substitution - Missense 3:49116144-49116144 - LIM2099 COSM4613198 c.1252delC p.L418fs*1 Deletion - Frameshift 3:49116338-49116338 - TCGA-DD-A73E-01 COSM4913052 c.1946C>T p.T649I Substitution - Missense 3:49115259-49115259 - TCGA-DD-A114-01 COSM4925450 c.2266C>G p.P756A Substitution - Missense 3:49114266-49114266 - ICGC_MB63 COSM286384 c.2219C>T p.S740L Substitution - Missense 3:49114791-49114791 - RK083_C01 COSM1633223 c.3884A>G p.Y1295C Substitution - Missense 3:49110293-49110293 - TCGA-BS-A0UM-01 COSM1046046 c.491C>T p.T164I Substitution - Missense 3:49117507-49117507 - 107393 COSM95437 c.530A>T p.K177M Substitution - Missense 3:49117468-49117468 - 2492708 COSM5717117 c.2525C>T p.S842F Substitution - Missense 3:49112565-49112565 - SC_9092 COSM5556451 c.772C>T p.H258Y Substitution - Missense 3:49117151-49117151 - TCGA-D9-A6EC-06 COSM2849573 c.181C>T p.P61S Substitution - Missense 3:49118064-49118064 - T84 COSM2849496 c.1619C>A p.T540N Substitution - Missense 3:49115752-49115752 - TCGA-DD-A113-01 COSM4925358 c.4069C>T p.R1357W Substitution - Missense 3:49108453-49108453 - CSCC-18-T COSM4468501 c.1502C>T p.P501L Substitution - Missense 3:49115869-49115869 - SC_9027 COSM5565949 c.1204C>T p.R402C Substitution - Missense 3:49116485-49116485 - LUAD-YINHD COSM95684 c.1190C>G p.S397* Substitution - Nonsense 3:49116499-49116499 - BN24T COSM1617748 c.3872C>T p.T1291M Substitution - Missense 3:49110305-49110305 - TCGA-EE-A182-06 COSM3595208 c.2473C>T p.R825C Substitution - Missense 3:49112617-49112617 - TCGA-G2-A3VY-01 COSM3775147 c.1355C>G p.S452C Substitution - Missense 3:49116118-49116118 - LUAD-S01357 COSM387327 c.1757G>A p.G586D Substitution - Missense 3:49115530-49115530 - CSCC-55-T COSM4480284 c.2362C>T p.L788L Substitution - coding silent 3:49114090-49114090 - TCGA-EB-A553-01 COSM3595212 c.1967C>T p.S656F Substitution - Missense 3:49115238-49115238 - Au1 COSM5597858 c.247C>T p.P83S Substitution - Missense 3:49117998-49117998 - pfg068T COSM4754777 c.2845G>A p.E949K Substitution - Missense 3:49111924-49111924 - TCGA-EK-A3GK-01 COSM4854255 c.3799C>G p.Q1267E Substitution - Missense 3:49110459-49110459 - TCGA-DG-A2KL-01 COSM2849521 c.1082-1G>C p.? Unknown 3:49116608-49116608 - 422_T COSM3945549 c.986T>C p.V329A Substitution - Missense 3:49116822-49116822 - TCGA-D3-A5GO-06 COSM3595220 c.349C>T p.R117C Substitution - Missense 3:49117735-49117735 - TCGA-BG-A0MQ-01 COSM1046036 c.3154A>G p.R1052G Substitution - Missense 3:49111518-49111518 - TCGA-EJ-5531-01 COSM127018 c.2784C>A p.Y928* Substitution - Nonsense 3:49111985-49111985 - TCGA-13-1498-01 COSM81890 c.3546G>T p.L1182L Substitution - coding silent 3:49110818-49110818 - NOKSI COSM4595450 c.943C>T p.P315S Substitution - Missense 3:49116865-49116865 - TCGA-AP-A054-01 COSM1046035 c.3505T>C p.C1169R Substitution - Missense 3:49110859-49110859 - TCGA-CG-5723-01 COSM4118404 c.3753T>C p.G1251G Substitution - coding silent 3:49110505-49110505 - TCGA-BR-4361-01 COSM4118418 c.2927G>T p.G976V Substitution - Missense 3:49111745-49111745 - TCGA-EE-A3AC-06 COSM3595216 c.524C>T p.P175L Substitution - Missense 3:49117474-49117474 - BN24 COSM1617748 c.3872C>T p.T1291M Substitution - Missense 3:49110305-49110305 - TCGA-AP-A054-01 COSM1046041 c.1358G>A p.R453H Substitution - Missense 3:49116115-49116115 - T2944 COSM4739672 c.2829C>T p.R943R Substitution - coding silent 3:49111940-49111940 - T3091 COSM4739674 c.1615G>A p.V539I Substitution - Missense 3:49115756-49115756 - 2 COSM3734854 c.2779_2780insT p.G927fs*74 Insertion - Frameshift 3:49111989-49111990 - YUNEKI COSM5399578 c.1203C>T p.F401F Substitution - coding silent 3:49116486-49116486 - TCGA-AZ-6598-01 COSM1423891 c.619C>T p.Q207* Substitution - Nonsense 3:49117304-49117304 - TCGA-EE-A29B-06 COSM3595196 c.3138C>T p.S1046S Substitution - coding silent 3:49111534-49111534 - HN_62926 COSM127018 c.2784C>A p.Y928* Substitution - Nonsense 3:49111985-49111985 - T1185 COSM4118406 c.3346C>T p.R1116C Substitution - Missense 3:49111104-49111104 - CSCC-31-T COSM4463533 c.1251C>T p.F417F Substitution - coding silent 3:49116339-49116339 - 2492710 COSM5717117 c.2525C>T p.S842F Substitution - Missense 3:49112565-49112565 - PD6046a COSM5778625 c.3015C>G p.T1005T Substitution - coding silent 3:49111657-49111657 - CRC-02T COSM1046041 c.1358G>A p.R453H Substitution - Missense 3:49116115-49116115 - TCGA-AC-A3W6-01 COSM3824137 c.1113C>T p.V371V Substitution - coding silent 3:49116576-49116576 - TCGA-AN-A0FV-01 COSM446691 c.3576C>A p.I1192I Substitution - coding silent 3:49110788-49110788 - TCGA-BQ-7045-01 COSM3993139 c.3263A>T p.E1088V Substitution - Missense 3:49111275-49111275 - TCGA-AA-3715-01 COSM293707 c.624_626delACT p.L209delL Deletion - In frame 3:49117297-49117299 - TCGA-CG-5723-01 COSM4118422 c.2828G>A p.R943H Substitution - Missense 3:49111941-49111941 - ME009T COSM222804 c.406G>A p.D136N Substitution - Missense 3:49117678-49117678 - LUAD-YINHD COSM350891 c.82G>T p.D28Y Substitution - Missense 3:49119064-49119064 - TCGA-D8-A1JA-01 COSM3824135 c.3390T>C p.C1130C Substitution - coding silent 3:49111060-49111060 - sysucc-1370T COSM4392251 c.601C>T p.R201W Substitution - Missense 3:49117322-49117322 - TCGA-AX-A0J0-01 COSM1046038 c.2272C>A p.L758I Substitution - Missense 3:49114260-49114260 - SNU-175 COSM2849411 c.3820C>T p.R1274C Substitution - Missense 3:49110357-49110357 - TCGA-EK-A3GK-01 COSM4853479 c.2421G>C p.Q807H Substitution - Missense 3:49114031-49114031 - ME024T COSM226077 c.2419C>T p.Q807* Substitution - Nonsense 3:49114033-49114033 - T15 COSM5344502 c.3469C>T p.R1157W Substitution - Missense 3:49110981-49110981 - RMS2071 COSM5880808 c.106G>C p.D36H Substitution - Missense 3:49119040-49119040 - 8067209 COSM3781651 c.2474G>T p.R825L Substitution - Missense 3:49112616-49112616 - TCGA-ER-A19F-06 COSM3595200 c.3047G>A p.R1016Q Substitution - Missense 3:49111625-49111625 - 587284 COSM1231978 c.2603G>A p.R868H Substitution - Missense 3:49112401-49112401 - H650 COSM1194751 c.3020T>A p.M1007K Substitution - Missense 3:49111652-49111652 - SNU-175 COSM2849492 c.1828C>T p.R610W Substitution - Missense 3:49115459-49115459 - TCGA-EE-A2GO-06 COSM3595218 c.513C>T p.H171H Substitution - coding silent 3:49117485-49117485 - TCGA-AG-3883-01 COSM288533 c.1403_1404insG p.L469fs*49 Insertion - Frameshift 3:49116069-49116070 - TCGA-BQ-7045-01 COSM3993141 c.3262G>A p.E1088K Substitution - Missense 3:49111276-49111276 - CHEWS025 COSM4324983 c.1704C>T p.S568S Substitution - coding silent 3:49115583-49115583 - TCGA-MI-A75I-01 COSM4930364 c.1642G>T p.A548S Substitution - Missense 3:49115729-49115729 - TCGA-CM-5861-01 COSM1423875 c.4061delC p.P1354fs*>16 Deletion - Frameshift 3:49108461-49108461 - TCGA-HC-A631-01 COSM4392251 c.601C>T p.R201W Substitution - Missense 3:49117322-49117322 - 2492709 COSM5717117 c.2525C>T p.S842F Substitution - Missense 3:49112565-49112565 - T3152 COSM4739679 c.534G>A p.V178V Substitution - coding silent 3:49117464-49117464 - TCGA-D9-A1JW-06 COSM3595223 c.123A>G p.K41K Substitution - coding silent 3:49119023-49119023 - CSCC-44-T COSM4482910 c.2605C>T p.P869S Substitution - Missense 3:49112399-49112399 - TCGA-DD-A73D-01 COSM4935340 c.2012G>T p.G671V Substitution - Missense 3:49115083-49115083 - ESO-720 COSM1270051 c.1920G>A p.V640V Substitution - coding silent 3:49115285-49115285 - 585270 COSM326832 c.3671A>T p.K1224M Substitution - Missense 3:49110587-49110587 - LS411 COSM2849449 c.2973C>T p.S991S Substitution - coding silent 3:49111699-49111699 - TCGA-CM-6171-01 COSM1423884 c.2667G>T p.E889D Substitution - Missense 3:49112337-49112337 - CSCC-19-T COSM4505925 c.660C>T p.P220P Substitution - coding silent 3:49117263-49117263 - PCSI_0052_Pa_X COSM3380627 c.2947A>G p.T983A Substitution - Missense 3:49111725-49111725 - T3024 COSM288533 c.1403_1404insG p.L469fs*49 Insertion - Frameshift 3:49116069-49116070 - TCGA-CM-6162-01 COSM1423886 c.2651G>A p.R884Q Substitution - Missense 3:49112353-49112353 - TCGA-AX-A0J1-01 COSM1046044 c.1156C>T p.H386Y Substitution - Missense 3:49116533-49116533 - T3262 COSM4739666 c.3979G>A p.A1327T Substitution - Missense 3:49110198-49110198 - QC2-40-T2 COSM5655972 c.3525C>T p.H1175H Substitution - coding silent 3:49110839-49110839 - 86797 COSM95684 c.1190C>G p.S397* Substitution - Nonsense 3:49116499-49116499 - 587316 COSM1231974 c.1396T>C p.W466R Substitution - Missense 3:49116077-49116077 - BD236T COSM5518433 c.1394G>A p.R465H Substitution - Missense 3:49116079-49116079 - 587316 COSM1231972 c.3412G>A p.G1138S Substitution - Missense 3:49111038-49111038 - 105T COSM1725186 c.1798A>T p.I600F Substitution - Missense 3:49115489-49115489 - pfg008T COSM1642292 c.1457C>T p.P486L Substitution - Missense 3:49115914-49115914 - CCK81 COSM2849479 c.2188A>G p.I730V Substitution - Missense 3:49114822-49114822 - TCGA-B9-5155-01 COSM3993143 c.2788T>C p.F930L Substitution - Missense 3:49111981-49111981 - TCGA-A6-5661-01 COSM1423882 c.2861A>G p.Y954C Substitution - Missense 3:49111811-49111811 - TCGA-FW-A3TU-06 COSM3595208 c.2473C>T p.R825C Substitution - Missense 3:49112617-49112617 - ESCC_68 COSM5633971 c.2421G>A p.Q807Q Substitution - coding silent 3:49114031-49114031 - 61 COSM5736613 c.3068G>A p.R1023Q Substitution - Missense 3:49111604-49111604 - H358 COSM1194122 c.1300G>T p.V434L Substitution - Missense 3:49116290-49116290 - CSCC-7-T COSM4493718 c.41C>T p.P14L Substitution - Missense 3:49119105-49119105 - TCGA-CD-A4MI-01 COSM4118426 c.1964C>A p.P655H Substitution - Missense 3:49115241-49115241 - 116T COSM1725476 c.2708G>T p.G903V Substitution - Missense 3:49112296-49112296 - C004 COSM5521965 c.105G>A p.K35K Substitution - coding silent 3:49119041-49119041 - TCGA-EE-A2GJ-06 COSM2849451 c.2955C>T p.S985S Substitution - coding silent 3:49111717-49111717 - ESCC-147T COSM3940563 c.556C>T p.L186F Substitution - Missense 3:49117442-49117442 - TCGA-B5-A11E-01 COSM419953 c.1124C>T p.S375L Substitution - Missense 3:49116565-49116565 - BCM489T COSM4790604 c.211A>G p.I71V Substitution - Missense 3:49118034-49118034 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.255479;Hs.255491;Hs.255596 3p21.31 614471

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.M1049R c.3146T>G 3 49148998 CM A G Missense p.C1182R c.3544T>C 3 49148292 UCEC A G Synonymous p.G997G c.2991T>C 3 49149153 CM C A Missense p.C408F c.1223G>T 3 49153944 LUAD C A Missense p.R1313L c.3938G>T 3 49147711 PRAD C A Missense p.R911L c.2732G>T 3 49149744 HNSC C A Missense p.V526L c.1576G>T 3 49153267 LUSC C A Missense p.V873L c.2617G>T 3 49149945 SCLC C A SpliceAcceptorSNV . c.2287-1G>T 3 49151718 LUAD C A Synonymous p.L1195L c.3585G>T 3 49148251 OV C A Synonymous p.P314P c.942G>T 3 49154344 UCEC C A Synonymous p.V744V c.2232G>T 3 49152250 UCEC CC TT Missense p.G340K c.1018_1019delinsAA 3 49154267 CM CC TT Missense p.V775M c.2322_2323delinsAA 3 49151681 CM C - Frameshift p.E621Nfs*21 c.1861delG 3 49152898 LUSC C - Frameshift p.G483Afs*35 c.1448delG 3 49153503 STAD - C Frameshift p.L484Pfs*47 c.1448dupG 3 49153503 COREAD C G Missense p.Q681H c.2043G>C 3 49152524 MM C T 3-UTRSNV . c.4257+16G>A 3 49146378 CM C T Missense p.D1109N c.3325G>A 3 49148597 BRCA C T Missense p.D151N c.451G>A 3 49155111 CM C T Missense p.E1070K c.3208G>A 3 49148936 HNSC C T Missense p.G1157S c.3469G>A 3 49148453 OV C T Missense p.G214R c.640G>A 3 49154761 CM C T Missense p.G340R c.1018G>A 3 49154268 STAD C T Missense p.R1029Q c.3086G>A 3 49149058 CM C T Missense p.R417H c.1250G>A 3 49153917 ESCA C T Missense p.R468H c.1403G>A 3 49153548 UCEC C T Missense p.R546H c.1637G>A 3 49153206 BRCA C T Missense p.R623Q c.1868G>A 3 49152891 HNSC C T Missense p.R830H c.2489G>A 3 49151435 HNSC C T Synonymous p.A676A c.2028G>A 3 49152539 BRCA C T Synonymous p.E418E c.1254G>A 3 49153913 LUAD C T Synonymous p.E527E c.1581G>A 3 49153262 OV C T Synonymous p.V653V c.1959G>A 3 49152718 ESCA G A IntronicSNV . c.1883-26C>T 3 49152820 STAD G A Missense p.P1008S c.3022C>T 3 49149122 CM G A Missense p.P105S c.313C>T 3 49155249 CM G A Missense p.P1377S c.4129C>T 3 49146522 LUSC G A Missense p.P190L c.569C>T 3 49154907 CM G A Missense p.P199S c.595C>T 3 49154881 CM G A Missense p.P499L c.1496C>T 3 49153347 STAD G A Missense p.R1214C c.3640C>T 3 49148196 UCEC G A Missense p.R838C c.2512C>T 3 49150050 CM G A Missense p.R914C c.2740C>T 3 49149736 CM G A Missense p.S390L c.1169C>T 3 49153998 BLCA G A Missense p.S90F c.269C>T 3 49155409 HNSC G A Nonsense p.Q820* c.2458C>T 3 49151466 CM G A Synonymous p.A1154A c.3462C>T 3 49148460 CM G A Synonymous p.A949A c.2847C>T 3 49149394 HNSC G A Synonymous p.H186H c.558C>T 3 49154918 CM G A Synonymous p.L594L c.1780C>T 3 49152979 BLCA G A Synonymous p.L944L c.2830C>T 3 49149411 CM G A Synonymous p.P377P c.1131C>T 3 49154036 OV G A Synonymous p.S1059S c.3177C>T 3 49148967 CM G A Synonymous p.S1098S c.3294C>T 3 49148716 CM G A Synonymous p.S998S c.2994C>T 3 49149150 CM G C Missense p.F147L c.441C>G 3 49155121 HNSC G C Missense p.P1061A c.3181C>G 3 49148963 CM G C Missense p.S617C c.1850C>G 3 49152909 HNSC G C Missense p.S764C c.2291C>G 3 49151713 LUAD G C Synonymous p.V129V c.387C>G 3 49155175 HNSC GG AA Missense p.P354F c.1060_1061delinsTT 3 49154225 CM G T Missense p.P190H c.569C>A 3 49154907 HNSC G T Missense p.T1042N c.3125C>A 3 49149019 STAD G T Nonsense p.Y941* c.2823C>A 3 49149418 HNSC G T Synonymous p.I1205I c.3615C>A 3 49148221 BRCA T A Missense p.K1237M c.3710A>T 3 49148020 SCLC T C Missense p.Y1308C c.3923A>G 3 49147726 HC T C Synonymous p.K41K c.123A>G 3 49156456 CM T G Missense p.D704A c.2111A>C 3 49152456 CM