Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 13 61034520 61034520 + 5'UTR SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr13:61034520G>C BLCA 13 61041463 61041463 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr13:61041463G>T c.166G>T c.(166-168)Gtt>Ttt p.V56F BLCA 13 61041466 61041466 + Missense_Mutation SNP C C G TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr13:61041466C>G c.169C>G c.(169-171)Ctt>Gtt p.L57V BLCA 13 61057916 61057916 + Nonsense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr13:61057916C>G c.224C>G c.(223-225)tCa>tGa p.S75* BLCA 13 61083966 61083966 + Missense_Mutation SNP A A G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr13:61083966A>G c.649A>G c.(649-651)Atg>Gtg p.M217V BLCA 13 61102546 61102546 + Missense_Mutation SNP C C T TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr13:61102546C>T c.908C>T c.(907-909)tCa>tTa p.S303L BLCA 13 61102651 61102651 + Missense_Mutation SNP G G C TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr13:61102651G>C c.1013G>C c.(1012-1014)aGa>aCa p.R338T BLCA 13 61102816 61102816 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr13:61102816C>T c.1178C>T c.(1177-1179)cCt>cTt p.P393L BLCA 13 61102943 61102943 + Nonsense_Mutation SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr13:61102943T>A c.1305T>A c.(1303-1305)taT>taA p.Y435* BRCA 13 61013901 61013901 + 5'UTR SNP C C G TCGA-A8-A09V-01A-11D-A045-09 TCGA-A8-A09V-10A-01W-A055-09 g.chr13:61013901C>G BRCA 13 61057959 61057959 + Silent SNP G G A TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr13:61057959G>A c.267G>A c.(265-267)ccG>ccA p.P89P BRCA 13 61083925 61083925 + Frame_Shift_Del DEL C C - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 g.chr13:61083925delC c.608delC c.(607-609)acgfs p.T203fs BRCA 13 61103212 61103212 + Missense_Mutation SNP T T A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr13:61103212T>A c.1574T>A c.(1573-1575)aTa>aAa p.I525K BRCA 13 61141757 61141757 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr13:61141757A>C c.1938A>C c.(1936-1938)ccA>ccC p.P646P CESC 13 61041493 61041493 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr13:61041493G>A c.196G>A c.(196-198)Gag>Aag p.E66K CESC 13 61103127 61103127 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr13:61103127G>A c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K COAD 13 61013897 61013897 + 5'UTR SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:61013897T>C COAD 13 61034649 61034649 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:61034649G>T c.49G>T c.(49-51)Gaa>Taa p.E17* COAD 13 61068603 61068603 + Missense_Mutation SNP G G C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr13:61068603G>C c.473G>C c.(472-474)aGa>aCa p.R158T COAD 13 61083902 61083902 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr13:61083902T>C c.585T>C c.(583-585)gaT>gaC p.D195D COAD 13 61083924 61083924 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:61083924A>C c.607A>C c.(607-609)Acg>Ccg p.T203P COAD 13 61102514 61102514 + Silent SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr13:61102514G>A c.876G>A c.(874-876)caG>caA p.Q292Q COAD 13 61102708 61102708 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr13:61102708G>A c.1070G>A c.(1069-1071)gGt>gAt p.G357D COAD 13 61102778 61102778 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr13:61102778G>A c.1140G>A c.(1138-1140)ccG>ccA p.P380P COAD 13 61102847 61102848 + Frame_Shift_Ins INS - - A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr13:61102847_61102848insA c.1209_1210insA c.(1210-1212)aaafs p.K404fs COAD 13 61102867 61102867 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr13:61102867T>C c.1229T>C c.(1228-1230)aTg>aCg p.M410T COAD 13 61102911 61102911 + Nonsense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:61102911G>T c.1273G>T c.(1273-1275)Gaa>Taa p.E425* COAD 13 61102983 61102983 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:61102983A>C c.1345A>C c.(1345-1347)Att>Ctt p.I449L COAD 13 61103094 61103094 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr13:61103094C>T c.1456C>T c.(1456-1458)Cga>Tga p.R486* COAD 13 61103095 61103095 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:61103095G>A c.1457G>A c.(1456-1458)cGa>cAa p.R486Q COAD 13 61103095 61103095 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:61103095G>A c.1457G>A c.(1456-1458)cGa>cAa p.R486Q COAD 13 61103154 61103154 + Nonsense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr13:61103154C>T c.1516C>T c.(1516-1518)Cga>Tga p.R506* COAD 13 61103255 61103255 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr13:61103255G>A c.1617G>A c.(1615-1617)aaG>aaA p.K539K COAD 13 61109249 61109249 + Missense_Mutation SNP G G A TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr13:61109249G>A c.1721G>A c.(1720-1722)cGg>cAg p.R574Q COAD 13 61109283 61109283 + Missense_Mutation SNP G G A TCGA-AA-3971-01A-01W-0995-10 TCGA-AA-3971-10A-01W-0999-10 g.chr13:61109283G>A c.1755G>A c.(1753-1755)atG>atA p.M585I COAD 13 61141715 61141715 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr13:61141715G>A c.1896G>A c.(1894-1896)caG>caA p.Q632Q COADREAD 13 61013897 61013897 + 5'UTR SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:61013897T>C COADREAD 13 61034649 61034649 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:61034649G>T c.49G>T c.(49-51)Gaa>Taa p.E17* COADREAD 13 61060050 61060050 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:61060050G>A c.406G>A c.(406-408)Gct>Act p.A136T COADREAD 13 61068603 61068603 + Missense_Mutation SNP G G C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr13:61068603G>C c.473G>C c.(472-474)aGa>aCa p.R158T COADREAD 13 61083902 61083902 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr13:61083902T>C c.585T>C c.(583-585)gaT>gaC p.D195D COADREAD 13 61083924 61083924 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:61083924A>C c.607A>C c.(607-609)Acg>Ccg p.T203P COADREAD 13 61084006 61084006 + Missense_Mutation SNP T T A TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr13:61084006T>A c.689T>A c.(688-690)cTt>cAt p.L230H COADREAD 13 61102514 61102514 + Silent SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr13:61102514G>A c.876G>A c.(874-876)caG>caA p.Q292Q COADREAD 13 61102708 61102708 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr13:61102708G>A c.1070G>A c.(1069-1071)gGt>gAt p.G357D COADREAD 13 61102778 61102778 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr13:61102778G>A c.1140G>A c.(1138-1140)ccG>ccA p.P380P COADREAD 13 61102847 61102848 + Frame_Shift_Ins INS - - A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr13:61102847_61102848insA c.1209_1210insA c.(1210-1212)aaafs p.K404fs COADREAD 13 61102867 61102867 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr13:61102867T>C c.1229T>C c.(1228-1230)aTg>aCg p.M410T COADREAD 13 61102911 61102911 + Nonsense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:61102911G>T c.1273G>T c.(1273-1275)Gaa>Taa p.E425* COADREAD 13 61102983 61102983 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:61102983A>C c.1345A>C c.(1345-1347)Att>Ctt p.I449L COADREAD 13 61103094 61103094 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr13:61103094C>T c.1456C>T c.(1456-1458)Cga>Tga p.R486* COADREAD 13 61103095 61103095 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:61103095G>A c.1457G>A c.(1456-1458)cGa>cAa p.R486Q COADREAD 13 61103095 61103095 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:61103095G>A c.1457G>A c.(1456-1458)cGa>cAa p.R486Q COADREAD 13 61103154 61103154 + Nonsense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr13:61103154C>T c.1516C>T c.(1516-1518)Cga>Tga p.R506* COADREAD 13 61103255 61103255 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr13:61103255G>A c.1617G>A c.(1615-1617)aaG>aaA p.K539K COADREAD 13 61109249 61109249 + Missense_Mutation SNP G G A TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr13:61109249G>A c.1721G>A c.(1720-1722)cGg>cAg p.R574Q COADREAD 13 61109283 61109283 + Missense_Mutation SNP G G A TCGA-AA-3971-01A-01W-0995-10 TCGA-AA-3971-10A-01W-0999-10 g.chr13:61109283G>A c.1755G>A c.(1753-1755)atG>atA p.M585I COADREAD 13 61141677 61141677 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:61141677G>A c.1858G>A c.(1858-1860)Gat>Aat p.D620N COADREAD 13 61141715 61141715 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr13:61141715G>A c.1896G>A c.(1894-1896)caG>caA p.Q632Q ESCA 13 61102581 61102581 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr13:61102581A>C c.943A>C c.(943-945)Aat>Cat p.N315H ESCA 13 61103042 61103042 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr13:61103042T>C c.1404T>C c.(1402-1404)ggT>ggC p.G468G ESCA 13 61103130 61103130 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr13:61103130G>A c.1492G>A c.(1492-1494)Gta>Ata p.V498I ESCA 13 61103305 61103305 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr13:61103305G>T c.1667G>T c.(1666-1668)tGg>tTg p.W556L ESCA 13 61109341 61109341 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr13:61109341A>G c.1813A>G c.(1813-1815)Atc>Gtc p.I605V GBM 13 61103056 61103056 + Missense_Mutation SNP A A G TCGA-14-2554-01A-01D-1494-08 TCGA-14-2554-10A-01D-1494-08 g.chr13:61103056A>G c.1418A>G c.(1417-1419)aAa>aGa p.K473R GBMLGG 13 61060002 61060002 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:61060002C>T c.358C>T c.(358-360)Cct>Tct p.P120S GBMLGG 13 61083899 61083899 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:61083899T>C c.582T>C c.(580-582)gtT>gtC p.V194V GBMLGG 13 61083925 61083925 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chr13:61083925C>T c.608C>T c.(607-609)aCg>aTg p.T203M GBMLGG 13 61103049 61103049 + Missense_Mutation SNP A A G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr13:61103049A>G c.1411A>G c.(1411-1413)Att>Gtt p.I471V GBMLGG 13 61103056 61103056 + Missense_Mutation SNP A A G TCGA-14-2554-01A-01D-1494-08 TCGA-14-2554-10A-01D-1494-08 g.chr13:61103056A>G c.1418A>G c.(1417-1419)aAa>aGa p.K473R HNSC 13 61034585 61034585 + 5'UTR SNP T T G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr13:61034585T>G HNSC 13 61059979 61059979 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr13:61059979G>A c.335G>A c.(334-336)aGa>aAa p.R112K HNSC 13 61068665 61068665 + Missense_Mutation SNP T T G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr13:61068665T>G c.535T>G c.(535-537)Tca>Gca p.S179A HNSC 13 61084005 61084005 + Missense_Mutation SNP C C G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 g.chr13:61084005C>G c.688C>G c.(688-690)Ctt>Gtt p.L230V HNSC 13 61084791 61084791 + Missense_Mutation SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr13:61084791G>A c.764G>A c.(763-765)aGa>aAa p.R255K HNSC 13 61102891 61102891 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr13:61102891C>T c.1253C>T c.(1252-1254)cCc>cTc p.P418L HNSC 13 61103347 61103347 + Missense_Mutation SNP A A G TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr13:61103347A>G c.1709A>G c.(1708-1710)aAc>aGc p.N570S KIPAN 13 61034625 61034625 + Missense_Mutation SNP G G A TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr13:61034625G>A c.25G>A c.(25-27)Ggt>Agt p.G9S KIPAN 13 61103190 61103190 + Missense_Mutation SNP G G A TCGA-DW-7841-01A-11D-2136-08 TCGA-DW-7841-10A-01D-2136-08 g.chr13:61103190G>A c.1552G>A c.(1552-1554)Gct>Act p.A518T KIPAN 13 61103273 61103273 + Silent SNP A A G TCGA-B8-4622-01A-02D-1553-08 TCGA-B8-4622-11A-01D-1553-08 g.chr13:61103273A>G c.1635A>G c.(1633-1635)gaA>gaG p.E545E KIRC 13 61103273 61103273 + Silent SNP A A G TCGA-B8-4622-01A-02D-1553-08 TCGA-B8-4622-11A-01D-1553-08 g.chr13:61103273A>G c.1635A>G c.(1633-1635)gaA>gaG p.E545E KIRP 13 61034625 61034625 + Missense_Mutation SNP G G A TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr13:61034625G>A c.25G>A c.(25-27)Ggt>Agt p.G9S KIRP 13 61103190 61103190 + Missense_Mutation SNP G G A TCGA-DW-7841-01A-11D-2136-08 TCGA-DW-7841-10A-01D-2136-08 g.chr13:61103190G>A c.1552G>A c.(1552-1554)Gct>Act p.A518T LGG 13 61060002 61060002 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:61060002C>T c.358C>T c.(358-360)Cct>Tct p.P120S LGG 13 61083899 61083899 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:61083899T>C c.582T>C c.(580-582)gtT>gtC p.V194V LGG 13 61083925 61083925 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chr13:61083925C>T c.608C>T c.(607-609)aCg>aTg p.T203M LGG 13 61103049 61103049 + Missense_Mutation SNP A A G TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr13:61103049A>G c.1411A>G c.(1411-1413)Att>Gtt p.I471V LIHC 13 61084796 61084796 + Missense_Mutation SNP G G A TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr13:61084796G>A c.769G>A c.(769-771)Gaa>Aaa p.E257K LIHC 13 61102826 61102826 + Silent SNP T T C TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr13:61102826T>C c.1188T>C c.(1186-1188)tcT>tcC p.S396S LIHC 13 61103006 61103006 + Missense_Mutation SNP G G C TCGA-2Y-A9HA-01A-11D-A38X-10 TCGA-2Y-A9HA-10A-01D-A38X-10 g.chr13:61103006G>C c.1368G>C c.(1366-1368)agG>agC p.R456S LUAD 13 61057959 61057959 + Silent SNP G G T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr13:61057959G>T c.267G>T c.(265-267)ccG>ccT p.P89P LUAD 13 61059946 61059946 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr13:61059946A>G c.302A>G c.(301-303)cAt>cGt p.H101R LUAD 13 61060026 61060026 + Missense_Mutation SNP G G T TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr13:61060026G>T c.382G>T c.(382-384)Gat>Tat p.D128Y LUAD 13 61068582 61068582 + Missense_Mutation SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 g.chr13:61068582G>T c.452G>T c.(451-453)gGa>gTa p.G151V LUAD 13 61068701 61068701 + Missense_Mutation SNP A A G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr13:61068701A>G c.571A>G c.(571-573)Aga>Gga p.R191G LUAD 13 61083900 61083900 + Missense_Mutation SNP G G A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr13:61083900G>A c.583G>A c.(583-585)Gat>Aat p.D195N LUAD 13 61083927 61083927 + Missense_Mutation SNP G G A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr13:61083927G>A c.610G>A c.(610-612)Gaa>Aaa p.E204K LUAD 13 61084791 61084791 + Missense_Mutation SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr13:61084791G>T c.764G>T c.(763-765)aGa>aTa p.R255I LUAD 13 61102533 61102533 + Nonsense_Mutation SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr13:61102533G>T c.895G>T c.(895-897)Gga>Tga p.G299* LUAD 13 61102923 61102923 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr13:61102923C>T c.1285C>T c.(1285-1287)Cct>Tct p.P429S LUAD 13 61103023 61103023 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 g.chr13:61103023A>G c.1385A>G c.(1384-1386)aAt>aGt p.N462S LUAD 13 61103100 61103100 + Missense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr13:61103100A>T c.1462A>T c.(1462-1464)Aat>Tat p.N488Y LUAD 13 61109367 61109367 + Splice_Site SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr13:61109367G>C c.1839G>C c.(1837-1839)tgG>tgC p.W613C LUSC 13 61041372 61041373 + Splice_Site DNP CC CC TT TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr13:61041372_61041373CC>TT c.75_76CC>TT c.(73-78)agCCtg>agTTtg p.25_26SL>SL LUSC 13 61083927 61083927 + Nonsense_Mutation SNP G G T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr13:61083927G>T c.610G>T c.(610-612)Gaa>Taa p.E204* LUSC 13 61084796 61084796 + Missense_Mutation SNP G G C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr13:61084796G>C c.769G>C c.(769-771)Gaa>Caa p.E257Q LUSC 13 61102614 61102614 + Missense_Mutation SNP A A G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr13:61102614A>G c.976A>G c.(976-978)Agg>Ggg p.R326G OV 13 61041407 61041407 + Missense_Mutation SNP C C T TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr13:61041407C>T c.110C>T c.(109-111)tCa>tTa p.S37L READ 13 61060050 61060050 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:61060050G>A c.406G>A c.(406-408)Gct>Act p.A136T READ 13 61084006 61084006 + Missense_Mutation SNP T T A TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr13:61084006T>A c.689T>A c.(688-690)cTt>cAt p.L230H READ 13 61141677 61141677 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:61141677G>A c.1858G>A c.(1858-1860)Gat>Aat p.D620N SARC 13 61103259 61103260 + Frame_Shift_Ins INS - - A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 g.chr13:61103259_61103260insA c.1621_1622insA c.(1621-1623)gaafs p.E541fs SKCM 13 61084023 61084040 + In_Frame_Del DEL CAGAAACCTGTTATGGGT CAGAAACCTGTTATGGGT - TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr13:61084023_61084040delCAGAAACCTGTTATGGGT c.706_723delCAGAAACCTGTTATGGGT c.(706-723)cagaaacctgttatgggtdel p.QKPVMG236del SKCM 13 61084778 61084778 + Missense_Mutation SNP A A T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 g.chr13:61084778A>T c.751A>T c.(751-753)Agg>Tgg p.R251W SKCM 13 61102641 61102641 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr13:61102641C>T c.1003C>T c.(1003-1005)Cgt>Tgt p.R335C SKCM 13 61102738 61102738 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr13:61102738C>T c.1100C>T c.(1099-1101)tCt>tTt p.S367F SKCM 13 61102815 61102815 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr13:61102815C>T c.1177C>T c.(1177-1179)Cct>Tct p.P393S SKCM 13 61102816 61102816 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:61102816C>T c.1178C>T c.(1177-1179)cCt>cTt p.P393L SKCM 13 61102882 61102882 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr13:61102882G>A c.1244G>A c.(1243-1245)gGa>gAa p.G415E SKCM 13 61102941 61102941 + Missense_Mutation SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr13:61102941T>C c.1303T>C c.(1303-1305)Tat>Cat p.Y435H SKCM 13 61103108 61103108 + Silent SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr13:61103108C>T c.1470C>T c.(1468-1470)ttC>ttT p.F490F

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 13 61109301 61109301 single base substitution C T exon_variant BLCA-CN 13 61109301 61109301 single base substitution C T synonymous_variant F591F 1773C>T BLCA-CN 13 61109301 61109301 single base substitution C T synonymous_variant F684F 2052C>T BLCA-US 13 61041463 61041463 single base substitution G T exon_variant BLCA-US 13 61041463 61041463 single base substitution G T missense_variant V149F 445G>T BLCA-US 13 61041463 61041463 single base substitution G T missense_variant V56F 166G>T BLCA-US 13 61057916 61057916 single base substitution C G exon_variant BLCA-US 13 61057916 61057916 single base substitution C G stop_gained S168* 503C>G BLCA-US 13 61057916 61057916 single base substitution C G stop_gained S75* 224C>G BOCA-FR 13 61029526 61029526 single base substitution C T intron_variant BRCA-EU 13 60967091 60967091 single base substitution T C upstream_gene_variant BRCA-EU 13 60973146 60973146 deletion of <=200bp C - intron_variant BRCA-EU 13 60974289 60974289 single base substitution A G intron_variant BRCA-EU 13 60978207 60978207 single base substitution C T intron_variant BRCA-EU 13 60978743 60978743 single base substitution C G intron_variant BRCA-EU 13 60978955 60978955 single base substitution C G intron_variant BRCA-EU 13 60979879 60979879 single base substitution G A intron_variant BRCA-EU 13 60984810 60984810 single base substitution T G intron_variant BRCA-EU 13 60985618 60985618 single base substitution T C intron_variant BRCA-EU 13 60986143 60986143 single base substitution G A intron_variant BRCA-EU 13 60986255 60986255 single base substitution T G intron_variant BRCA-EU 13 60987044 60987044 single base substitution C G intron_variant BRCA-EU 13 60987451 60987451 single base substitution C T intron_variant BRCA-EU 13 60988303 60988303 deletion of <=200bp T - intron_variant BRCA-EU 13 60988526 60988526 single base substitution G A intron_variant BRCA-EU 13 60989248 60989248 deletion of <=200bp A - intron_variant BRCA-EU 13 60990403 60990403 single base substitution C G intron_variant BRCA-EU 13 60990654 60990654 deletion of <=200bp T - intron_variant BRCA-EU 13 60993584 60993584 single base substitution A G intron_variant BRCA-EU 13 60994002 60994002 single base substitution A G intron_variant BRCA-EU 13 60994274 60994274 single base substitution T C intron_variant BRCA-EU 13 60997393 60997393 single base substitution G A intron_variant BRCA-EU 13 60998947 60998947 single base substitution C A intron_variant BRCA-EU 13 61001536 61001536 deletion of <=200bp T - intron_variant BRCA-EU 13 61006205 61006205 single base substitution A C intron_variant BRCA-EU 13 61006205 61006205 single base substitution A C upstream_gene_variant BRCA-EU 13 61008575 61008575 single base substitution C G intron_variant BRCA-EU 13 61009167 61009167 single base substitution A T intron_variant BRCA-EU 13 61009569 61009569 single base substitution T A intron_variant BRCA-EU 13 61011654 61011654 single base substitution G T intron_variant BRCA-EU 13 61012687 61012687 single base substitution C T intron_variant BRCA-EU 13 61012802 61012802 deletion of <=200bp T - intron_variant BRCA-EU 13 61015680 61015680 single base substitution C T intron_variant BRCA-EU 13 61015680 61015680 single base substitution C T upstream_gene_variant BRCA-EU 13 61018397 61018397 single base substitution C T intron_variant BRCA-EU 13 61018397 61018397 single base substitution C T upstream_gene_variant BRCA-EU 13 61019734 61019734 single base substitution C G intron_variant BRCA-EU 13 61023088 61023088 single base substitution T A intron_variant BRCA-EU 13 61024242 61024242 single base substitution A T intron_variant BRCA-EU 13 61029164 61029164 single base substitution C T intron_variant BRCA-EU 13 61029428 61029428 single base substitution G A intron_variant BRCA-EU 13 61030834 61030834 deletion of <=200bp T - intron_variant BRCA-EU 13 61032415 61032415 single base substitution A G intron_variant BRCA-EU 13 61033247 61033247 deletion of <=200bp T - intron_variant BRCA-EU 13 61033518 61033518 single base substitution C T intron_variant BRCA-EU 13 61035771 61035771 single base substitution T G downstream_gene_variant BRCA-EU 13 61035771 61035771 single base substitution T G intron_variant BRCA-EU 13 61035779 61035779 single base substitution C G downstream_gene_variant BRCA-EU 13 61035779 61035779 single base substitution C G intron_variant BRCA-EU 13 61040342 61040342 single base substitution A G intron_variant BRCA-EU 13 61040571 61040571 deletion of <=200bp T - intron_variant BRCA-EU 13 61040777 61040777 single base substitution C T intron_variant BRCA-EU 13 61041311 61041311 single base substitution C T intron_variant BRCA-EU 13 61043673 61043673 single base substitution A G intron_variant BRCA-EU 13 61043717 61043717 single base substitution T G intron_variant BRCA-EU 13 61045363 61045363 single base substitution G C intron_variant BRCA-EU 13 61046616 61046616 single base substitution A C intron_variant BRCA-EU 13 61048506 61048506 deletion of <=200bp C - intron_variant BRCA-EU 13 61048741 61048741 single base substitution C T intron_variant BRCA-EU 13 61048779 61048779 single base substitution C T intron_variant BRCA-EU 13 61049204 61049204 single base substitution C A intron_variant BRCA-EU 13 61049249 61049249 single base substitution G T intron_variant BRCA-EU 13 61049471 61049471 single base substitution C G intron_variant BRCA-EU 13 61049916 61049916 single base substitution C T intron_variant BRCA-EU 13 61050331 61050331 single base substitution T A intron_variant BRCA-EU 13 61050381 61050381 single base substitution C G intron_variant BRCA-EU 13 61050933 61050933 single base substitution T C intron_variant BRCA-EU 13 61055486 61055486 single base substitution T G intron_variant BRCA-EU 13 61056460 61056460 deletion of <=200bp T - intron_variant BRCA-EU 13 61057498 61057504 deletion of <=200bp TAACTAA - intron_variant BRCA-EU 13 61058390 61058390 single base substitution C G intron_variant BRCA-EU 13 61058440 61058440 single base substitution C T intron_variant BRCA-EU 13 61059095 61059095 single base substitution A T intron_variant BRCA-EU 13 61062617 61062617 insertion of <=200bp - T downstream_gene_variant BRCA-EU 13 61062617 61062617 insertion of <=200bp - T intron_variant BRCA-EU 13 61064195 61064195 insertion of <=200bp - G downstream_gene_variant BRCA-EU 13 61064195 61064195 insertion of <=200bp - G intron_variant BRCA-EU 13 61065021 61065021 single base substitution G T downstream_gene_variant BRCA-EU 13 61065021 61065021 single base substitution G T intron_variant BRCA-EU 13 61065126 61065126 single base substitution C G intron_variant BRCA-EU 13 61066419 61066419 single base substitution G C intron_variant BRCA-EU 13 61067123 61067123 single base substitution G A intron_variant BRCA-EU 13 61067495 61067495 single base substitution T G intron_variant BRCA-EU 13 61068025 61068025 single base substitution A G intron_variant BRCA-EU 13 61071168 61071168 single base substitution A G intron_variant BRCA-EU 13 61072125 61072125 deletion of <=200bp A - intron_variant BRCA-EU 13 61072718 61072718 single base substitution G T intron_variant BRCA-EU 13 61072915 61072915 single base substitution G A intron_variant BRCA-EU 13 61073243 61073243 single base substitution G C intron_variant BRCA-EU 13 61073322 61073322 single base substitution C A intron_variant BRCA-EU 13 61074044 61074044 single base substitution G A intron_variant BRCA-EU 13 61074178 61074178 single base substitution G A intron_variant BRCA-EU 13 61074294 61074294 single base substitution G T intron_variant BRCA-EU 13 61074574 61074574 single base substitution C T intron_variant BRCA-EU 13 61074829 61074829 single base substitution G T intron_variant BRCA-EU 13 61075282 61075282 single base substitution C A intron_variant BRCA-EU 13 61075482 61075482 single base substitution C T intron_variant BRCA-EU 13 61075525 61075525 single base substitution C T intron_variant BRCA-EU 13 61075862 61075862 single base substitution C A intron_variant BRCA-EU 13 61076094 61076094 single base substitution G T intron_variant BRCA-EU 13 61076145 61076145 single base substitution A C intron_variant BRCA-EU 13 61076892 61076892 single base substitution G T intron_variant BRCA-EU 13 61078929 61078929 single base substitution G T intron_variant BRCA-EU 13 61080862 61080862 single base substitution G A intron_variant BRCA-EU 13 61081166 61081166 deletion of <=200bp A - intron_variant BRCA-EU 13 61083455 61083455 single base substitution G A intron_variant BRCA-EU 13 61084079 61084079 single base substitution G A intron_variant BRCA-EU 13 61084213 61084213 single base substitution C A intron_variant BRCA-EU 13 61087579 61087579 single base substitution A T intron_variant BRCA-EU 13 61089576 61089576 single base substitution T G intron_variant BRCA-EU 13 61089615 61089615 single base substitution C T intron_variant BRCA-EU 13 61093500 61093500 single base substitution T C intron_variant BRCA-EU 13 61093727 61093727 single base substitution C G intron_variant BRCA-EU 13 61094482 61094482 deletion of <=200bp T - intron_variant BRCA-EU 13 61094586 61094586 single base substitution G A intron_variant BRCA-EU 13 61096821 61096821 single base substitution A G intron_variant BRCA-EU 13 61098875 61098875 single base substitution G C intron_variant BRCA-EU 13 61098875 61098875 single base substitution G C upstream_gene_variant BRCA-EU 13 61099869 61099869 single base substitution C T intron_variant BRCA-EU 13 61099869 61099869 single base substitution C T upstream_gene_variant BRCA-EU 13 61101784 61101787 deletion of <=200bp TATT - intron_variant BRCA-EU 13 61101784 61101787 deletion of <=200bp TATT - upstream_gene_variant BRCA-EU 13 61101846 61101846 deletion of <=200bp T - intron_variant BRCA-EU 13 61101846 61101846 deletion of <=200bp T - upstream_gene_variant BRCA-EU 13 61102287 61102287 single base substitution T A intron_variant BRCA-EU 13 61102287 61102287 single base substitution T A upstream_gene_variant BRCA-EU 13 61102549 61102549 single base substitution C G 3_prime_UTR_variant BRCA-EU 13 61102549 61102549 single base substitution C G stop_gained S304* 911C>G BRCA-EU 13 61102549 61102549 single base substitution C G stop_gained S397* 1190C>G BRCA-EU 13 61102549 61102549 single base substitution C G upstream_gene_variant BRCA-EU 13 61102763 61102763 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 61102763 61102763 single base substitution C T synonymous_variant I375I 1125C>T BRCA-EU 13 61102763 61102763 single base substitution C T synonymous_variant I468I 1404C>T BRCA-EU 13 61102763 61102763 single base substitution C T upstream_gene_variant BRCA-EU 13 61103389 61103389 single base substitution G A downstream_gene_variant BRCA-EU 13 61103389 61103389 single base substitution G A intron_variant BRCA-EU 13 61103545 61103545 single base substitution C T downstream_gene_variant BRCA-EU 13 61103545 61103545 single base substitution C T intron_variant BRCA-EU 13 61106078 61106078 single base substitution C A downstream_gene_variant BRCA-EU 13 61106078 61106078 single base substitution C A intron_variant BRCA-EU 13 61108551 61108551 single base substitution T C intron_variant BRCA-EU 13 61110556 61110556 single base substitution T G downstream_gene_variant BRCA-EU 13 61110556 61110556 single base substitution T G intron_variant BRCA-EU 13 61111543 61111543 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 61111543 61111543 deletion of <=200bp A - intron_variant BRCA-EU 13 61111903 61111903 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 61111903 61111903 deletion of <=200bp T - intron_variant BRCA-EU 13 61113476 61113476 single base substitution C G downstream_gene_variant BRCA-EU 13 61113476 61113476 single base substitution C G intron_variant BRCA-EU 13 61113976 61113976 single base substitution T C downstream_gene_variant BRCA-EU 13 61113976 61113976 single base substitution T C intron_variant BRCA-EU 13 61114257 61114257 single base substitution C T downstream_gene_variant BRCA-EU 13 61114257 61114257 single base substitution C T intron_variant BRCA-EU 13 61114465 61114465 single base substitution A C downstream_gene_variant BRCA-EU 13 61114465 61114465 single base substitution A C intron_variant BRCA-EU 13 61115823 61115823 single base substitution A G intron_variant BRCA-EU 13 61116421 61116421 single base substitution A G intron_variant BRCA-EU 13 61116488 61116488 single base substitution G C intron_variant BRCA-EU 13 61116560 61116560 single base substitution A G intron_variant BRCA-EU 13 61116637 61116637 insertion of <=200bp - A intron_variant BRCA-EU 13 61118809 61118809 deletion of <=200bp A - intron_variant BRCA-EU 13 61118809 61118809 single base substitution A G intron_variant BRCA-EU 13 61119983 61119983 single base substitution G T intron_variant BRCA-EU 13 61120543 61120543 single base substitution A T intron_variant BRCA-EU 13 61122888 61122888 single base substitution C G intron_variant BRCA-EU 13 61123288 61123289 deletion of <=200bp TG - intron_variant BRCA-EU 13 61124604 61124604 single base substitution C T intron_variant BRCA-EU 13 61126099 61126099 single base substitution C G intron_variant BRCA-EU 13 61127500 61127503 deletion of <=200bp CTTC - intron_variant BRCA-EU 13 61127636 61127636 single base substitution T A intron_variant BRCA-EU 13 61127657 61127657 single base substitution C G intron_variant BRCA-EU 13 61129448 61129448 single base substitution G A intron_variant BRCA-EU 13 61129664 61129664 single base substitution G C intron_variant BRCA-EU 13 61131501 61131501 single base substitution A G intron_variant BRCA-EU 13 61131830 61131830 deletion of <=200bp T - intron_variant BRCA-EU 13 61132332 61132332 single base substitution C T intron_variant BRCA-EU 13 61135182 61135182 single base substitution C G intron_variant BRCA-EU 13 61137465 61137465 single base substitution G A intron_variant BRCA-EU 13 61138001 61138001 single base substitution A G intron_variant BRCA-EU 13 61138973 61138973 single base substitution C G intron_variant BRCA-EU 13 61139390 61139390 single base substitution C A intron_variant BRCA-EU 13 61139446 61139446 single base substitution C T intron_variant BRCA-EU 13 61139506 61139506 deletion of <=200bp T - intron_variant BRCA-EU 13 61139765 61139765 single base substitution G C intron_variant BRCA-EU 13 61140063 61140063 single base substitution C G intron_variant BRCA-EU 13 61141686 61141686 single base substitution C G missense_variant L623V 1867C>G BRCA-EU 13 61141686 61141686 single base substitution C G missense_variant L716V 2146C>G BRCA-EU 13 61141927 61141927 single base substitution G T intron_variant BRCA-EU 13 61144353 61144355 deletion of <=200bp AAT - intron_variant BRCA-EU 13 61144384 61144384 single base substitution G C intron_variant BRCA-EU 13 61145763 61145763 single base substitution G C intron_variant BRCA-EU 13 61147282 61147282 single base substitution A G intron_variant BRCA-EU 13 61148932 61148932 single base substitution C T downstream_gene_variant BRCA-EU 13 61149189 61149189 single base substitution G A downstream_gene_variant BRCA-EU 13 61149656 61149656 single base substitution G A downstream_gene_variant BRCA-EU 13 61150904 61150904 single base substitution G C downstream_gene_variant BRCA-EU 13 61150942 61150942 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 61151356 61151356 single base substitution T A downstream_gene_variant BRCA-EU 13 61152079 61152079 single base substitution C T downstream_gene_variant BRCA-FR 13 60979879 60979879 single base substitution G A intron_variant BRCA-FR 13 60987451 60987451 single base substitution C T intron_variant BRCA-FR 13 60988526 60988526 single base substitution G A intron_variant BRCA-FR 13 60990403 60990403 single base substitution C G intron_variant BRCA-FR 13 60997997 60997997 single base substitution G A intron_variant BRCA-FR 13 61007742 61007742 single base substitution A T intron_variant BRCA-FR 13 61007742 61007742 single base substitution A T upstream_gene_variant BRCA-FR 13 61008575 61008575 single base substitution C G intron_variant BRCA-FR 13 61039808 61039808 single base substitution C T downstream_gene_variant BRCA-FR 13 61039808 61039808 single base substitution C T intron_variant BRCA-FR 13 61048779 61048779 single base substitution C T intron_variant BRCA-FR 13 61049916 61049916 single base substitution C T intron_variant BRCA-FR 13 61058440 61058440 single base substitution C T intron_variant BRCA-FR 13 61067917 61067917 single base substitution C G intron_variant BRCA-FR 13 61071936 61071936 single base substitution C T intron_variant BRCA-FR 13 61074574 61074574 single base substitution C T intron_variant BRCA-FR 13 61074835 61074835 single base substitution C T intron_variant BRCA-FR 13 61075282 61075282 single base substitution C A intron_variant BRCA-FR 13 61075482 61075482 single base substitution C T intron_variant BRCA-FR 13 61083455 61083455 single base substitution G A intron_variant BRCA-FR 13 61099869 61099869 single base substitution C T intron_variant BRCA-FR 13 61099869 61099869 single base substitution C T upstream_gene_variant BRCA-FR 13 61103389 61103389 single base substitution G A downstream_gene_variant BRCA-FR 13 61103389 61103389 single base substitution G A intron_variant BRCA-FR 13 61110501 61110501 single base substitution C A downstream_gene_variant BRCA-FR 13 61110501 61110501 single base substitution C A intron_variant BRCA-FR 13 61113476 61113476 single base substitution C G downstream_gene_variant BRCA-FR 13 61113476 61113476 single base substitution C G intron_variant BRCA-FR 13 61114783 61114783 single base substitution G T intron_variant BRCA-UK 13 60986759 60986759 single base substitution C T intron_variant BRCA-UK 13 60997393 60997393 single base substitution G A intron_variant BRCA-UK 13 61023295 61023295 single base substitution G A intron_variant BRCA-UK 13 61028941 61028941 single base substitution A T intron_variant BRCA-UK 13 61034264 61034264 single base substitution C A intron_variant BRCA-UK 13 61035779 61035779 single base substitution C G downstream_gene_variant BRCA-UK 13 61035779 61035779 single base substitution C G intron_variant BRCA-UK 13 61043717 61043717 single base substitution T G intron_variant BRCA-UK 13 61086244 61086244 single base substitution C T intron_variant BRCA-UK 13 61103545 61103545 single base substitution C T downstream_gene_variant BRCA-UK 13 61103545 61103545 single base substitution C T intron_variant BRCA-UK 13 61126099 61126099 single base substitution C G intron_variant BRCA-UK 13 61127657 61127657 single base substitution C G intron_variant BRCA-UK 13 61128066 61128066 single base substitution C A intron_variant BRCA-UK 13 61128154 61128154 single base substitution C T intron_variant BRCA-UK 13 61131501 61131501 single base substitution A G intron_variant BRCA-US 13 61013901 61013901 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 13 61013901 61013901 single base substitution C G missense_variant L41V 121C>G BRCA-US 13 61013901 61013901 single base substitution C G upstream_gene_variant BRCA-US 13 61057959 61057959 single base substitution G A exon_variant BRCA-US 13 61057959 61057959 single base substitution G A synonymous_variant P182P 546G>A BRCA-US 13 61057959 61057959 single base substitution G A synonymous_variant P89P 267G>A BRCA-US 13 61083925 61083925 deletion of <=200bp C - 3_prime_UTR_variant BRCA-US 13 61083925 61083925 deletion of <=200bp C - frameshift_variant T203 BRCA-US 13 61083925 61083925 deletion of <=200bp C - frameshift_variant T296 BRCA-US 13 61103212 61103212 single base substitution T A downstream_gene_variant BRCA-US 13 61103212 61103212 single base substitution T A exon_variant BRCA-US 13 61103212 61103212 single base substitution T A missense_variant I525K 1574T>A BRCA-US 13 61103212 61103212 single base substitution T A missense_variant I618K 1853T>A BRCA-US 13 61141757 61141757 single base substitution A C synonymous_variant P646P 1938A>C BRCA-US 13 61141757 61141757 single base substitution A C synonymous_variant P739P 2217A>C BTCA-JP 13 61058064 61058064 single base substitution T C intron_variant BTCA-JP 13 61084922 61084922 single base substitution T C intron_variant BTCA-JP 13 61102557 61102557 single base substitution G A 3_prime_UTR_variant BTCA-JP 13 61102557 61102557 single base substitution G A missense_variant E307K 919G>A BTCA-JP 13 61102557 61102557 single base substitution G A missense_variant E400K 1198G>A BTCA-JP 13 61102557 61102557 single base substitution G A upstream_gene_variant BTCA-JP 13 61103161 61103161 single base substitution G T downstream_gene_variant BTCA-JP 13 61103161 61103161 single base substitution G T exon_variant BTCA-JP 13 61103161 61103161 single base substitution G T missense_variant G508V 1523G>T BTCA-JP 13 61103161 61103161 single base substitution G T missense_variant G601V 1802G>T BTCA-JP 13 61103236 61103236 single base substitution G A downstream_gene_variant BTCA-JP 13 61103236 61103236 single base substitution G A exon_variant BTCA-JP 13 61103236 61103236 single base substitution G A missense_variant R533Q 1598G>A BTCA-JP 13 61103236 61103236 single base substitution G A missense_variant R626Q 1877G>A BTCA-JP 13 61103295 61103295 single base substitution G A downstream_gene_variant BTCA-JP 13 61103295 61103295 single base substitution G A exon_variant BTCA-JP 13 61103295 61103295 single base substitution G A missense_variant A553T 1657G>A BTCA-JP 13 61103295 61103295 single base substitution G A missense_variant A646T 1936G>A CESC-US 13 61041493 61041493 single base substitution G A exon_variant CESC-US 13 61041493 61041493 single base substitution G A missense_variant E159K 475G>A CESC-US 13 61041493 61041493 single base substitution G A missense_variant E66K 196G>A CESC-US 13 61103127 61103127 single base substitution G A downstream_gene_variant CESC-US 13 61103127 61103127 single base substitution G A exon_variant CESC-US 13 61103127 61103127 single base substitution G A missense_variant E497K 1489G>A CESC-US 13 61103127 61103127 single base substitution G A missense_variant E590K 1768G>A CLLE-ES 13 60965834 60965834 single base substitution A G upstream_gene_variant CLLE-ES 13 60980617 60980617 single base substitution C A intron_variant CLLE-ES 13 61005945 61005945 single base substitution A C intron_variant CLLE-ES 13 61005945 61005945 single base substitution A C upstream_gene_variant CLLE-ES 13 61008599 61008599 single base substitution A T intron_variant CLLE-ES 13 61015416 61015416 single base substitution G T intron_variant CLLE-ES 13 61015416 61015416 single base substitution G T upstream_gene_variant CLLE-ES 13 61028445 61028445 single base substitution T C intron_variant CLLE-ES 13 61030352 61030352 single base substitution C G intron_variant CLLE-ES 13 61044110 61044110 single base substitution A T intron_variant CLLE-ES 13 61071996 61071996 single base substitution A G intron_variant CLLE-ES 13 61079877 61079877 single base substitution A G intron_variant CLLE-ES 13 61086426 61086426 single base substitution C T intron_variant CLLE-ES 13 61104240 61104240 single base substitution T G downstream_gene_variant CLLE-ES 13 61104240 61104240 single base substitution T G intron_variant CLLE-ES 13 61112304 61112304 single base substitution T C downstream_gene_variant CLLE-ES 13 61112304 61112304 single base substitution T C intron_variant CLLE-ES 13 61113139 61113139 single base substitution C A downstream_gene_variant CLLE-ES 13 61113139 61113139 single base substitution C A intron_variant CLLE-ES 13 61118710 61118710 single base substitution A C intron_variant CLLE-ES 13 61120336 61120336 single base substitution G T intron_variant CLLE-ES 13 61123287 61123287 single base substitution C G intron_variant CLLE-ES 13 61152630 61152630 single base substitution T C downstream_gene_variant COAD-US 13 61013897 61013897 single base substitution T C 5_prime_UTR_variant COAD-US 13 61013897 61013897 single base substitution T C synonymous_variant I39I 117T>C COAD-US 13 61013897 61013897 single base substitution T C upstream_gene_variant COAD-US 13 61034649 61034649 single base substitution G T exon_variant COAD-US 13 61034649 61034649 single base substitution G T stop_gained E110* 328G>T COAD-US 13 61034649 61034649 single base substitution G T stop_gained E17* 49G>T COAD-US 13 61068603 61068603 single base substitution G C 3_prime_UTR_variant COAD-US 13 61068603 61068603 single base substitution G C missense_variant R158T 473G>C COAD-US 13 61068603 61068603 single base substitution G C missense_variant R251T 752G>C COAD-US 13 61083902 61083902 single base substitution T C 3_prime_UTR_variant COAD-US 13 61083902 61083902 single base substitution T C synonymous_variant D195D 585T>C COAD-US 13 61083902 61083902 single base substitution T C synonymous_variant D288D 864T>C COAD-US 13 61083924 61083924 single base substitution A C 3_prime_UTR_variant COAD-US 13 61083924 61083924 single base substitution A C missense_variant T203P 607A>C COAD-US 13 61083924 61083924 single base substitution A C missense_variant T296P 886A>C COAD-US 13 61102576 61102578 deletion of <=200bp ATA - 3_prime_UTR_variant COAD-US 13 61102576 61102578 deletion of <=200bp ATA - inframe_deletion DN313D COAD-US 13 61102576 61102578 deletion of <=200bp ATA - inframe_deletion DN406D COAD-US 13 61102576 61102578 deletion of <=200bp ATA - upstream_gene_variant COAD-US 13 61102708 61102708 single base substitution G A 3_prime_UTR_variant COAD-US 13 61102708 61102708 single base substitution G A missense_variant G357D 1070G>A COAD-US 13 61102708 61102708 single base substitution G A missense_variant G450D 1349G>A COAD-US 13 61102708 61102708 single base substitution G A upstream_gene_variant COAD-US 13 61102778 61102778 single base substitution G A 3_prime_UTR_variant COAD-US 13 61102778 61102778 single base substitution G A synonymous_variant P380P 1140G>A COAD-US 13 61102778 61102778 single base substitution G A synonymous_variant P473P 1419G>A COAD-US 13 61102778 61102778 single base substitution G A upstream_gene_variant COAD-US 13 61102847 61102847 insertion of <=200bp - A 3_prime_UTR_variant COAD-US 13 61102847 61102847 insertion of <=200bp - A frameshift_variant F403L? COAD-US 13 61102847 61102847 insertion of <=200bp - A frameshift_variant F496L? COAD-US 13 61102847 61102847 insertion of <=200bp - A upstream_gene_variant COAD-US 13 61102867 61102867 single base substitution T C 3_prime_UTR_variant COAD-US 13 61102867 61102867 single base substitution T C missense_variant M410T 1229T>C COAD-US 13 61102867 61102867 single base substitution T C missense_variant M503T 1508T>C COAD-US 13 61102867 61102867 single base substitution T C upstream_gene_variant COAD-US 13 61103094 61103094 single base substitution C T downstream_gene_variant COAD-US 13 61103094 61103094 single base substitution C T stop_gained R486* 1456C>T COAD-US 13 61103094 61103094 single base substitution C T stop_gained R579* 1735C>T COAD-US 13 61103094 61103094 single base substitution C T upstream_gene_variant COAD-US 13 61103095 61103095 single base substitution G A downstream_gene_variant COAD-US 13 61103095 61103095 single base substitution G A missense_variant R486Q 1457G>A COAD-US 13 61103095 61103095 single base substitution G A missense_variant R579Q 1736G>A COAD-US 13 61103095 61103095 single base substitution G A upstream_gene_variant COAD-US 13 61103255 61103255 single base substitution G A downstream_gene_variant COAD-US 13 61103255 61103255 single base substitution G A exon_variant COAD-US 13 61103255 61103255 single base substitution G A synonymous_variant K539K 1617G>A COAD-US 13 61103255 61103255 single base substitution G A synonymous_variant K632K 1896G>A COAD-US 13 61141715 61141715 single base substitution G A synonymous_variant Q632Q 1896G>A COAD-US 13 61141715 61141715 single base substitution G A synonymous_variant Q725Q 2175G>A COCA-CN 13 61005837 61005837 single base substitution C A intron_variant COCA-CN 13 61005837 61005837 single base substitution C A upstream_gene_variant COCA-CN 13 61038517 61038517 single base substitution A G downstream_gene_variant COCA-CN 13 61038517 61038517 single base substitution A G intron_variant COCA-CN 13 61041462 61041462 single base substitution A C exon_variant COCA-CN 13 61041462 61041462 single base substitution A C synonymous_variant T148T 444A>C COCA-CN 13 61041462 61041462 single base substitution A C synonymous_variant T55T 165A>C COCA-CN 13 61059976 61059976 single base substitution G A 3_prime_UTR_variant COCA-CN 13 61059976 61059976 single base substitution G A missense_variant R111Q 332G>A COCA-CN 13 61059976 61059976 single base substitution G A missense_variant R204Q 611G>A COCA-CN 13 61068721 61068721 single base substitution G T intron_variant COCA-CN 13 61069898 61069898 single base substitution G A intron_variant COCA-CN 13 61084923 61084923 single base substitution C T intron_variant COCA-CN 13 61084927 61084927 single base substitution C T intron_variant COCA-CN 13 61084932 61084932 single base substitution C T intron_variant COCA-CN 13 61084936 61084936 single base substitution C T intron_variant COCA-CN 13 61102619 61102619 single base substitution G A 3_prime_UTR_variant COCA-CN 13 61102619 61102619 single base substitution G A synonymous_variant Q327Q 981G>A COCA-CN 13 61102619 61102619 single base substitution G A synonymous_variant Q420Q 1260G>A COCA-CN 13 61102619 61102619 single base substitution G A upstream_gene_variant COCA-CN 13 61103094 61103094 single base substitution C T downstream_gene_variant COCA-CN 13 61103094 61103094 single base substitution C T stop_gained R486* 1456C>T COCA-CN 13 61103094 61103094 single base substitution C T stop_gained R579* 1735C>T COCA-CN 13 61103094 61103094 single base substitution C T upstream_gene_variant COCA-CN 13 61109088 61109088 single base substitution G T intron_variant COCA-CN 13 61148573 61148573 single base substitution A G downstream_gene_variant EOPC-DE 13 61038470 61038470 single base substitution C T downstream_gene_variant EOPC-DE 13 61038470 61038470 single base substitution C T intron_variant EOPC-DE 13 61051516 61051516 single base substitution T C intron_variant EOPC-DE 13 61119977 61119977 single base substitution A G intron_variant ESAD-UK 13 60968023 60968023 single base substitution A G upstream_gene_variant ESAD-UK 13 60970452 60970452 single base substitution C G upstream_gene_variant ESAD-UK 13 60972230 60972230 single base substitution T A intron_variant ESAD-UK 13 60973030 60973030 single base substitution C G intron_variant ESAD-UK 13 60973187 60973187 single base substitution C G intron_variant ESAD-UK 13 60976772 60976772 single base substitution G A intron_variant ESAD-UK 13 60976884 60976884 single base substitution T G intron_variant ESAD-UK 13 60977125 60977125 single base substitution G C intron_variant ESAD-UK 13 60979371 60979371 single base substitution G C intron_variant ESAD-UK 13 60979372 60979372 single base substitution G T intron_variant ESAD-UK 13 60979466 60979466 single base substitution C A intron_variant ESAD-UK 13 60982291 60982291 single base substitution C T intron_variant ESAD-UK 13 60983079 60983079 single base substitution T A intron_variant ESAD-UK 13 60984481 60984481 single base substitution G C intron_variant ESAD-UK 13 60986747 60986747 single base substitution T C intron_variant ESAD-UK 13 60989980 60989980 single base substitution C G intron_variant ESAD-UK 13 60990231 60990231 single base substitution G A intron_variant ESAD-UK 13 60995073 60995073 single base substitution G A intron_variant ESAD-UK 13 60995882 60995882 deletion of <=200bp T - intron_variant ESAD-UK 13 61003275 61003275 single base substitution A C intron_variant ESAD-UK 13 61003275 61003275 single base substitution A C upstream_gene_variant ESAD-UK 13 61003550 61003550 single base substitution A C intron_variant ESAD-UK 13 61003550 61003550 single base substitution A C upstream_gene_variant ESAD-UK 13 61004317 61004317 single base substitution C T intron_variant ESAD-UK 13 61004317 61004317 single base substitution C T upstream_gene_variant ESAD-UK 13 61004870 61004870 insertion of <=200bp - T intron_variant ESAD-UK 13 61004870 61004870 insertion of <=200bp - T upstream_gene_variant ESAD-UK 13 61005634 61005634 single base substitution A T intron_variant ESAD-UK 13 61005634 61005634 single base substitution A T upstream_gene_variant ESAD-UK 13 61007166 61007166 deletion of <=200bp T - intron_variant ESAD-UK 13 61007166 61007166 deletion of <=200bp T - upstream_gene_variant ESAD-UK 13 61007180 61007180 single base substitution G A intron_variant ESAD-UK 13 61007180 61007180 single base substitution G A upstream_gene_variant ESAD-UK 13 61008700 61008700 single base substitution A G intron_variant ESAD-UK 13 61009119 61009119 single base substitution T C intron_variant ESAD-UK 13 61009483 61009483 single base substitution G C intron_variant ESAD-UK 13 61012802 61012802 deletion of <=200bp T - intron_variant ESAD-UK 13 61015531 61015531 single base substitution G T intron_variant ESAD-UK 13 61015531 61015531 single base substitution G T upstream_gene_variant ESAD-UK 13 61017303 61017303 single base substitution A T intron_variant ESAD-UK 13 61017303 61017303 single base substitution A T upstream_gene_variant ESAD-UK 13 61018310 61018310 single base substitution A G intron_variant ESAD-UK 13 61018310 61018310 single base substitution A G upstream_gene_variant ESAD-UK 13 61018644 61018644 single base substitution C T intron_variant ESAD-UK 13 61018644 61018644 single base substitution C T upstream_gene_variant ESAD-UK 13 61020476 61020476 single base substitution C T intron_variant ESAD-UK 13 61021538 61021538 single base substitution C A intron_variant ESAD-UK 13 61023676 61023676 single base substitution T A intron_variant ESAD-UK 13 61023676 61023676 single base substitution T C intron_variant ESAD-UK 13 61023726 61023726 single base substitution T G intron_variant ESAD-UK 13 61026799 61026799 single base substitution A T intron_variant ESAD-UK 13 61026837 61026837 single base substitution A G intron_variant ESAD-UK 13 61027305 61027305 single base substitution G T intron_variant ESAD-UK 13 61027306 61027306 single base substitution A T intron_variant ESAD-UK 13 61028634 61028634 single base substitution C T intron_variant ESAD-UK 13 61031427 61031427 single base substitution C G intron_variant ESAD-UK 13 61033189 61033189 single base substitution A T intron_variant ESAD-UK 13 61034436 61034436 single base substitution A T intron_variant ESAD-UK 13 61034806 61034806 single base substitution G T exon_variant ESAD-UK 13 61034806 61034806 single base substitution G T intron_variant ESAD-UK 13 61035673 61035673 single base substitution T G downstream_gene_variant ESAD-UK 13 61035673 61035673 single base substitution T G intron_variant ESAD-UK 13 61036575 61036575 single base substitution T G downstream_gene_variant ESAD-UK 13 61036575 61036575 single base substitution T G intron_variant ESAD-UK 13 61040069 61040069 single base substitution C G downstream_gene_variant ESAD-UK 13 61040069 61040069 single base substitution C G intron_variant ESAD-UK 13 61041518 61041518 single base substitution G T splice_region_variant ESAD-UK 13 61042049 61042049 single base substitution C T intron_variant ESAD-UK 13 61042315 61042315 single base substitution G A intron_variant ESAD-UK 13 61042439 61042439 single base substitution T G intron_variant ESAD-UK 13 61043217 61043217 single base substitution G A intron_variant ESAD-UK 13 61043821 61043821 single base substitution G A intron_variant ESAD-UK 13 61046504 61046504 single base substitution T C intron_variant ESAD-UK 13 61047213 61047213 single base substitution C T intron_variant ESAD-UK 13 61048044 61048044 single base substitution C T intron_variant ESAD-UK 13 61048119 61048119 single base substitution C T intron_variant ESAD-UK 13 61048191 61048191 single base substitution G A intron_variant ESAD-UK 13 61048488 61048488 single base substitution G A intron_variant ESAD-UK 13 61049163 61049163 insertion of <=200bp - T intron_variant ESAD-UK 13 61053293 61053293 single base substitution C T intron_variant ESAD-UK 13 61053362 61053362 single base substitution T G intron_variant ESAD-UK 13 61058665 61058666 deletion of <=200bp GT - intron_variant ESAD-UK 13 61059066 61059066 single base substitution G A intron_variant ESAD-UK 13 61060658 61060658 single base substitution A G downstream_gene_variant ESAD-UK 13 61060658 61060658 single base substitution A G intron_variant ESAD-UK 13 61061690 61061690 single base substitution C T downstream_gene_variant ESAD-UK 13 61061690 61061690 single base substitution C T intron_variant ESAD-UK 13 61062194 61062194 single base substitution C T downstream_gene_variant ESAD-UK 13 61062194 61062194 single base substitution C T intron_variant ESAD-UK 13 61062520 61062520 single base substitution G T downstream_gene_variant ESAD-UK 13 61062520 61062520 single base substitution G T intron_variant ESAD-UK 13 61062770 61062770 single base substitution C T downstream_gene_variant ESAD-UK 13 61062770 61062770 single base substitution C T intron_variant ESAD-UK 13 61063043 61063043 single base substitution G A downstream_gene_variant ESAD-UK 13 61063043 61063043 single base substitution G A intron_variant ESAD-UK 13 61063796 61063796 single base substitution C T downstream_gene_variant ESAD-UK 13 61063796 61063796 single base substitution C T intron_variant ESAD-UK 13 61063869 61063869 deletion of <=200bp A - downstream_gene_variant ESAD-UK 13 61063869 61063869 deletion of <=200bp A - intron_variant ESAD-UK 13 61064825 61064825 single base substitution A T downstream_gene_variant ESAD-UK 13 61064825 61064825 single base substitution A T intron_variant ESAD-UK 13 61064977 61064977 single base substitution C T downstream_gene_variant ESAD-UK 13 61064977 61064977 single base substitution C T intron_variant ESAD-UK 13 61066129 61066129 single base substitution C A intron_variant ESAD-UK 13 61068080 61068080 single base substitution A G intron_variant ESAD-UK 13 61073274 61073274 single base substitution C T intron_variant ESAD-UK 13 61074523 61074523 single base substitution G T intron_variant ESAD-UK 13 61074786 61074786 single base substitution C T intron_variant ESAD-UK 13 61074853 61074853 single base substitution A C intron_variant ESAD-UK 13 61075383 61075383 single base substitution T G intron_variant ESAD-UK 13 61076615 61076615 single base substitution T G intron_variant ESAD-UK 13 61077010 61077010 single base substitution C G intron_variant ESAD-UK 13 61077481 61077481 single base substitution G A intron_variant ESAD-UK 13 61077765 61077765 single base substitution A C intron_variant ESAD-UK 13 61079201 61079201 single base substitution G A intron_variant ESAD-UK 13 61079261 61079261 single base substitution C T intron_variant ESAD-UK 13 61079317 61079317 single base substitution C T intron_variant ESAD-UK 13 61079754 61079754 single base substitution G A intron_variant ESAD-UK 13 61081033 61081033 single base substitution C T intron_variant ESAD-UK 13 61081042 61081042 single base substitution G T intron_variant ESAD-UK 13 61081626 61081626 single base substitution C G intron_variant ESAD-UK 13 61082158 61082158 single base substitution T C intron_variant ESAD-UK 13 61082668 61082668 single base substitution A T intron_variant ESAD-UK 13 61083480 61083480 single base substitution G A intron_variant ESAD-UK 13 61085072 61085072 single base substitution G T intron_variant ESAD-UK 13 61086963 61086963 single base substitution C T intron_variant ESAD-UK 13 61087057 61087057 single base substitution C T intron_variant ESAD-UK 13 61089231 61089231 single base substitution C T intron_variant ESAD-UK 13 61089617 61089617 single base substitution T C intron_variant ESAD-UK 13 61090013 61090013 single base substitution A G intron_variant ESAD-UK 13 61090581 61090581 single base substitution C T intron_variant ESAD-UK 13 61090947 61090947 single base substitution C G intron_variant ESAD-UK 13 61092860 61092860 single base substitution C G intron_variant ESAD-UK 13 61093157 61093157 single base substitution C T intron_variant ESAD-UK 13 61094181 61094181 single base substitution C G intron_variant ESAD-UK 13 61094539 61094539 single base substitution G T intron_variant ESAD-UK 13 61096892 61096892 single base substitution G A intron_variant ESAD-UK 13 61103874 61103874 single base substitution A T downstream_gene_variant ESAD-UK 13 61103874 61103874 single base substitution A T intron_variant ESAD-UK 13 61104040 61104040 single base substitution A T downstream_gene_variant ESAD-UK 13 61104040 61104040 single base substitution A T intron_variant ESAD-UK 13 61105965 61105965 deletion of <=200bp A - downstream_gene_variant ESAD-UK 13 61105965 61105965 deletion of <=200bp A - intron_variant ESAD-UK 13 61106998 61106998 single base substitution T A downstream_gene_variant ESAD-UK 13 61106998 61106998 single base substitution T A intron_variant ESAD-UK 13 61108434 61108434 single base substitution G A intron_variant ESAD-UK 13 61108699 61108699 insertion of <=200bp - G intron_variant ESAD-UK 13 61110289 61110289 single base substitution C A downstream_gene_variant ESAD-UK 13 61110289 61110289 single base substitution C A intron_variant ESAD-UK 13 61111044 61111044 single base substitution C T downstream_gene_variant ESAD-UK 13 61111044 61111044 single base substitution C T intron_variant ESAD-UK 13 61112104 61112104 single base substitution C T downstream_gene_variant ESAD-UK 13 61112104 61112104 single base substitution C T intron_variant ESAD-UK 13 61112625 61112625 single base substitution G C downstream_gene_variant ESAD-UK 13 61112625 61112625 single base substitution G C intron_variant ESAD-UK 13 61113894 61113894 single base substitution A T downstream_gene_variant ESAD-UK 13 61113894 61113894 single base substitution A T intron_variant ESAD-UK 13 61113904 61113904 single base substitution A C downstream_gene_variant ESAD-UK 13 61113904 61113904 single base substitution A C intron_variant ESAD-UK 13 61115005 61115005 single base substitution G A intron_variant ESAD-UK 13 61115814 61115814 single base substitution T A intron_variant ESAD-UK 13 61116783 61116783 single base substitution T C intron_variant ESAD-UK 13 61118349 61118349 single base substitution G A intron_variant ESAD-UK 13 61119444 61119444 single base substitution C G intron_variant ESAD-UK 13 61120430 61120430 single base substitution C G intron_variant ESAD-UK 13 61120758 61120758 single base substitution A T intron_variant ESAD-UK 13 61121037 61121037 single base substitution A C intron_variant ESAD-UK 13 61123187 61123187 single base substitution G T intron_variant ESAD-UK 13 61123694 61123694 single base substitution G C intron_variant ESAD-UK 13 61124146 61124146 single base substitution C A intron_variant ESAD-UK 13 61125217 61125217 single base substitution G A intron_variant ESAD-UK 13 61125883 61125883 single base substitution T C intron_variant ESAD-UK 13 61125937 61125937 single base substitution G T intron_variant ESAD-UK 13 61125989 61125989 single base substitution G T intron_variant ESAD-UK 13 61126283 61126283 single base substitution G T intron_variant ESAD-UK 13 61127355 61127355 single base substitution C T intron_variant ESAD-UK 13 61127394 61127394 single base substitution C A intron_variant ESAD-UK 13 61131493 61131493 single base substitution C T intron_variant ESAD-UK 13 61132147 61132147 single base substitution G A intron_variant ESAD-UK 13 61132950 61132950 insertion of <=200bp - A intron_variant ESAD-UK 13 61134495 61134496 deletion of <=200bp AT - intron_variant ESAD-UK 13 61138300 61138300 deletion of <=200bp T - intron_variant ESAD-UK 13 61138718 61138718 single base substitution G A intron_variant ESAD-UK 13 61139048 61139048 single base substitution T C intron_variant ESAD-UK 13 61139086 61139086 single base substitution C T intron_variant ESAD-UK 13 61139866 61139866 single base substitution T C intron_variant ESAD-UK 13 61143446 61143446 single base substitution C A intron_variant ESAD-UK 13 61144539 61144539 single base substitution G T intron_variant ESAD-UK 13 61144569 61144569 single base substitution G A intron_variant ESAD-UK 13 61145461 61145461 single base substitution G A intron_variant ESAD-UK 13 61147773 61147773 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 61147933 61147933 single base substitution A T 3_prime_UTR_variant ESAD-UK 13 61149707 61149707 single base substitution G C downstream_gene_variant ESAD-UK 13 61149757 61149757 single base substitution A G downstream_gene_variant ESAD-UK 13 61150590 61150590 single base substitution C T downstream_gene_variant ESAD-UK 13 61150834 61150834 single base substitution C T downstream_gene_variant ESAD-UK 13 61151376 61151376 single base substitution T C downstream_gene_variant ESAD-UK 13 61152505 61152505 single base substitution C G downstream_gene_variant ESCA-CN 13 61041481 61041481 single base substitution G A exon_variant ESCA-CN 13 61041481 61041481 single base substitution G A missense_variant E155K 463G>A ESCA-CN 13 61041481 61041481 single base substitution G A missense_variant E62K 184G>A ESCA-CN 13 61058808 61058808 insertion of <=200bp - T intron_variant ESCA-CN 13 61141590 61141590 single base substitution T A intron_variant GBM-US 13 61103056 61103056 single base substitution A G downstream_gene_variant GBM-US 13 61103056 61103056 single base substitution A G missense_variant K473R 1418A>G GBM-US 13 61103056 61103056 single base substitution A G missense_variant K566R 1697A>G GBM-US 13 61103056 61103056 single base substitution A G upstream_gene_variant KIRC-US 13 61084777 61084777 single base substitution C T 3_prime_UTR_variant KIRC-US 13 61084777 61084777 single base substitution C T synonymous_variant G250G 750C>T KIRC-US 13 61084777 61084777 single base substitution C T synonymous_variant G343G 1029C>T KIRC-US 13 61102576 61102578 deletion of <=200bp ATA - 3_prime_UTR_variant KIRC-US 13 61102576 61102578 deletion of <=200bp ATA - inframe_deletion DN313D KIRC-US 13 61102576 61102578 deletion of <=200bp ATA - inframe_deletion DN406D KIRC-US 13 61102576 61102578 deletion of <=200bp ATA - upstream_gene_variant KIRC-US 13 61103273 61103273 single base substitution A G downstream_gene_variant KIRC-US 13 61103273 61103273 single base substitution A G exon_variant KIRC-US 13 61103273 61103273 single base substitution A G synonymous_variant E545E 1635A>G KIRC-US 13 61103273 61103273 single base substitution A G synonymous_variant E638E 1914A>G KIRP-US 13 61034625 61034625 single base substitution G A exon_variant KIRP-US 13 61034625 61034625 single base substitution G A missense_variant G102S 304G>A KIRP-US 13 61034625 61034625 single base substitution G A missense_variant G9S 25G>A KIRP-US 13 61060035 61060035 single base substitution G A 3_prime_UTR_variant KIRP-US 13 61060035 61060035 single base substitution G A downstream_gene_variant KIRP-US 13 61060035 61060035 single base substitution G A missense_variant E131K 391G>A KIRP-US 13 61060035 61060035 single base substitution G A missense_variant E224K 670G>A KIRP-US 13 61102844 61102844 single base substitution T C 3_prime_UTR_variant KIRP-US 13 61102844 61102844 single base substitution T C synonymous_variant A402A 1206T>C KIRP-US 13 61102844 61102844 single base substitution T C synonymous_variant A495A 1485T>C KIRP-US 13 61102844 61102844 single base substitution T C upstream_gene_variant KIRP-US 13 61103190 61103190 single base substitution G A downstream_gene_variant KIRP-US 13 61103190 61103190 single base substitution G A exon_variant KIRP-US 13 61103190 61103190 single base substitution G A missense_variant A518T 1552G>A KIRP-US 13 61103190 61103190 single base substitution G A missense_variant A611T 1831G>A LAML-KR 13 60982212 60982212 single base substitution C G intron_variant LAML-KR 13 60982215 60982215 single base substitution G A intron_variant LAML-KR 13 61109122 61109122 single base substitution T A intron_variant LAML-KR 13 61148514 61148514 single base substitution G T downstream_gene_variant LGG-US 13 61103049 61103049 single base substitution A G downstream_gene_variant LGG-US 13 61103049 61103049 single base substitution A G missense_variant I471V 1411A>G LGG-US 13 61103049 61103049 single base substitution A G missense_variant I564V 1690A>G LGG-US 13 61103049 61103049 single base substitution A G upstream_gene_variant LICA-FR 13 60969295 60969295 insertion of <=200bp - T upstream_gene_variant LICA-FR 13 60980760 60980760 single base substitution A G intron_variant LICA-FR 13 61018097 61018097 single base substitution A T intron_variant LICA-FR 13 61018097 61018097 single base substitution A T upstream_gene_variant LICA-FR 13 61021208 61021208 single base substitution T G intron_variant LICA-FR 13 61080078 61080078 single base substitution T C intron_variant LICA-FR 13 61081409 61081409 single base substitution A G intron_variant LICA-FR 13 61099641 61099641 single base substitution A T intron_variant LICA-FR 13 61099641 61099641 single base substitution A T upstream_gene_variant LICA-FR 13 61103302 61103302 single base substitution T G downstream_gene_variant LICA-FR 13 61103302 61103302 single base substitution T G exon_variant LICA-FR 13 61103302 61103302 single base substitution T G missense_variant M555R 1664T>G LICA-FR 13 61103302 61103302 single base substitution T G missense_variant M648R 1943T>G LICA-FR 13 61112518 61112518 insertion of <=200bp - T downstream_gene_variant LICA-FR 13 61112518 61112518 insertion of <=200bp - T intron_variant LICA-FR 13 61114238 61114238 single base substitution G A downstream_gene_variant LICA-FR 13 61114238 61114238 single base substitution G A intron_variant LICA-FR 13 61115746 61115746 single base substitution A G intron_variant LICA-FR 13 61141705 61141705 single base substitution G T missense_variant G629V 1886G>T LICA-FR 13 61141705 61141705 single base substitution G T missense_variant G722V 2165G>T LICA-FR 13 61148491 61148491 single base substitution C T downstream_gene_variant LINC-JP 13 60967699 60967699 single base substitution C A upstream_gene_variant LINC-JP 13 60969429 60969429 single base substitution T C upstream_gene_variant LINC-JP 13 61016527 61016527 single base substitution A G intron_variant LINC-JP 13 61016527 61016527 single base substitution A G upstream_gene_variant LINC-JP 13 61026671 61026671 single base substitution G A intron_variant LINC-JP 13 61049249 61049249 single base substitution G T intron_variant LINC-JP 13 61066950 61066950 single base substitution T A intron_variant LINC-JP 13 61072308 61072308 single base substitution G A intron_variant LINC-JP 13 61072375 61072375 single base substitution T C intron_variant LINC-JP 13 61083821 61083821 single base substitution G T 3_prime_UTR_variant LINC-JP 13 61083821 61083821 single base substitution G T intron_variant LINC-JP 13 61084273 61084273 single base substitution A G intron_variant LINC-JP 13 61103105 61103105 single base substitution T C downstream_gene_variant LINC-JP 13 61103105 61103105 single base substitution T C exon_variant LINC-JP 13 61103105 61103105 single base substitution T C synonymous_variant S489S 1467T>C LINC-JP 13 61103105 61103105 single base substitution T C synonymous_variant S582S 1746T>C LINC-JP 13 61103296 61103296 single base substitution C T downstream_gene_variant LINC-JP 13 61103296 61103296 single base substitution C T exon_variant LINC-JP 13 61103296 61103296 single base substitution C T missense_variant A553V 1658C>T LINC-JP 13 61103296 61103296 single base substitution C T missense_variant A646V 1937C>T LINC-JP 13 61122835 61122835 single base substitution A G intron_variant LINC-JP 13 61125621 61125621 single base substitution A G intron_variant LINC-JP 13 61137601 61137601 single base substitution G T intron_variant LINC-JP 13 61139468 61139468 single base substitution C T intron_variant LINC-JP 13 61144916 61144916 single base substitution G T intron_variant LINC-JP 13 61144967 61144967 single base substitution A G intron_variant LINC-JP 13 61152871 61152871 single base substitution G A downstream_gene_variant LIRI-JP 13 60966080 60966080 single base substitution A T upstream_gene_variant LIRI-JP 13 60970153 60970153 single base substitution A C upstream_gene_variant LIRI-JP 13 60972115 60972115 single base substitution A G intron_variant LIRI-JP 13 60972628 60972628 single base substitution A G intron_variant LIRI-JP 13 60972797 60972797 single base substitution A T intron_variant LIRI-JP 13 60973441 60973441 single base substitution A G intron_variant LIRI-JP 13 60974827 60974827 single base substitution G A intron_variant LIRI-JP 13 60975237 60975237 single base substitution A G intron_variant LIRI-JP 13 60976274 60976274 single base substitution A G intron_variant LIRI-JP 13 60978393 60978393 single base substitution A G intron_variant LIRI-JP 13 60981264 60981264 single base substitution A G intron_variant LIRI-JP 13 60981367 60981367 single base substitution T C intron_variant LIRI-JP 13 60982627 60982627 single base substitution T G intron_variant LIRI-JP 13 60983008 60983008 single base substitution C G intron_variant LIRI-JP 13 60983696 60983696 single base substitution G T intron_variant LIRI-JP 13 60983697 60983697 single base substitution A T intron_variant LIRI-JP 13 60984715 60984715 single base substitution G A intron_variant LIRI-JP 13 60985183 60985183 single base substitution T C intron_variant LIRI-JP 13 60985233 60985233 single base substitution A C intron_variant LIRI-JP 13 60985522 60985522 single base substitution A G intron_variant LIRI-JP 13 60986569 60986569 single base substitution T A intron_variant LIRI-JP 13 60987468 60987468 single base substitution G T intron_variant LIRI-JP 13 60988462 60988462 single base substitution T G intron_variant LIRI-JP 13 60990630 60990630 single base substitution T G intron_variant LIRI-JP 13 60991061 60991061 single base substitution G A intron_variant LIRI-JP 13 60995546 60995546 single base substitution T G intron_variant LIRI-JP 13 60998838 60998838 single base substitution A G intron_variant LIRI-JP 13 61000500 61000500 single base substitution G A intron_variant LIRI-JP 13 61001560 61001560 single base substitution T C intron_variant LIRI-JP 13 61001811 61001811 single base substitution A T intron_variant LIRI-JP 13 61001826 61001826 single base substitution G A intron_variant LIRI-JP 13 61002608 61002608 single base substitution A C intron_variant LIRI-JP 13 61002789 61002789 single base substitution C T intron_variant LIRI-JP 13 61003125 61003125 single base substitution T C intron_variant LIRI-JP 13 61003500 61003500 single base substitution G C intron_variant LIRI-JP 13 61003500 61003500 single base substitution G C upstream_gene_variant LIRI-JP 13 61006579 61006579 single base substitution A G intron_variant LIRI-JP 13 61006579 61006579 single base substitution A G upstream_gene_variant LIRI-JP 13 61010756 61010756 single base substitution G A intron_variant LIRI-JP 13 61011082 61011082 single base substitution C A intron_variant LIRI-JP 13 61012736 61012736 single base substitution C G intron_variant LIRI-JP 13 61014379 61014379 single base substitution A T intron_variant LIRI-JP 13 61014379 61014379 single base substitution A T upstream_gene_variant LIRI-JP 13 61015123 61015123 single base substitution T A intron_variant LIRI-JP 13 61015123 61015123 single base substitution T A upstream_gene_variant LIRI-JP 13 61015789 61015789 single base substitution A G intron_variant LIRI-JP 13 61015789 61015789 single base substitution A G upstream_gene_variant LIRI-JP 13 61020348 61020348 single base substitution A G intron_variant LIRI-JP 13 61021512 61021512 single base substitution A G intron_variant LIRI-JP 13 61026010 61026010 single base substitution C T intron_variant LIRI-JP 13 61026553 61026553 deletion of <=200bp T - intron_variant LIRI-JP 13 61027502 61027502 single base substitution A G intron_variant LIRI-JP 13 61028161 61028161 single base substitution T C intron_variant LIRI-JP 13 61029739 61029739 single base substitution T C intron_variant LIRI-JP 13 61034683 61034683 single base substitution C T exon_variant LIRI-JP 13 61034683 61034683 single base substitution C T intron_variant LIRI-JP 13 61034873 61034873 single base substitution T C exon_variant LIRI-JP 13 61034873 61034873 single base substitution T C intron_variant LIRI-JP 13 61037342 61037342 single base substitution C T downstream_gene_variant LIRI-JP 13 61037342 61037342 single base substitution C T intron_variant LIRI-JP 13 61038209 61038209 single base substitution C A downstream_gene_variant LIRI-JP 13 61038209 61038209 single base substitution C A intron_variant LIRI-JP 13 61039584 61039584 single base substitution A T downstream_gene_variant LIRI-JP 13 61039584 61039584 single base substitution A T intron_variant LIRI-JP 13 61040407 61040407 single base substitution A G intron_variant LIRI-JP 13 61045987 61045987 single base substitution C G intron_variant LIRI-JP 13 61047988 61047988 single base substitution G T intron_variant LIRI-JP 13 61051478 61051478 single base substitution A C intron_variant LIRI-JP 13 61053827 61053827 single base substitution C T intron_variant LIRI-JP 13 61057567 61057567 single base substitution A G intron_variant LIRI-JP 13 61058498 61058498 single base substitution T G intron_variant LIRI-JP 13 61061012 61061012 single base substitution T C downstream_gene_variant LIRI-JP 13 61061012 61061012 single base substitution T C intron_variant LIRI-JP 13 61065166 61065166 single base substitution G A intron_variant LIRI-JP 13 61065736 61065736 single base substitution T C intron_variant LIRI-JP 13 61068577 61068577 single base substitution A G 3_prime_UTR_variant LIRI-JP 13 61068577 61068577 single base substitution A G synonymous_variant T149T 447A>G LIRI-JP 13 61068577 61068577 single base substitution A G synonymous_variant T242T 726A>G LIRI-JP 13 61069271 61069271 single base substitution G T intron_variant LIRI-JP 13 61070378 61070378 single base substitution A G intron_variant LIRI-JP 13 61073294 61073294 single base substitution T C intron_variant LIRI-JP 13 61075056 61075056 single base substitution A G intron_variant LIRI-JP 13 61076457 61076457 single base substitution T C intron_variant LIRI-JP 13 61077376 61077376 single base substitution A T intron_variant LIRI-JP 13 61077677 61077677 single base substitution C T intron_variant LIRI-JP 13 61078541 61078541 single base substitution A G intron_variant LIRI-JP 13 61078956 61078956 single base substitution G T intron_variant LIRI-JP 13 61079927 61079927 single base substitution T C intron_variant LIRI-JP 13 61080843 61080843 single base substitution A G intron_variant LIRI-JP 13 61081032 61081032 single base substitution G T intron_variant LIRI-JP 13 61081656 61081656 single base substitution G C intron_variant LIRI-JP 13 61082057 61082057 single base substitution A G intron_variant LIRI-JP 13 61082674 61082674 single base substitution T G intron_variant LIRI-JP 13 61084489 61084489 single base substitution C T intron_variant LIRI-JP 13 61085062 61085062 single base substitution C T intron_variant LIRI-JP 13 61085495 61085495 single base substitution A G intron_variant LIRI-JP 13 61089889 61089889 single base substitution T G intron_variant LIRI-JP 13 61092369 61092369 single base substitution C T intron_variant LIRI-JP 13 61093095 61093095 single base substitution A G intron_variant LIRI-JP 13 61093435 61093435 single base substitution T C intron_variant LIRI-JP 13 61093972 61093972 single base substitution A G intron_variant LIRI-JP 13 61094150 61094150 single base substitution C T intron_variant LIRI-JP 13 61095182 61095182 single base substitution C T intron_variant LIRI-JP 13 61095813 61095813 single base substitution T A intron_variant LIRI-JP 13 61097089 61097089 single base substitution T G intron_variant LIRI-JP 13 61097200 61097200 single base substitution C A intron_variant LIRI-JP 13 61097241 61097241 single base substitution G T intron_variant LIRI-JP 13 61097242 61097242 single base substitution C T intron_variant LIRI-JP 13 61097409 61097409 single base substitution G C intron_variant LIRI-JP 13 61098463 61098463 single base substitution A T intron_variant LIRI-JP 13 61098463 61098463 single base substitution A T upstream_gene_variant LIRI-JP 13 61100353 61100353 single base substitution A T intron_variant LIRI-JP 13 61100353 61100353 single base substitution A T upstream_gene_variant LIRI-JP 13 61101709 61101709 single base substitution A G intron_variant LIRI-JP 13 61101709 61101709 single base substitution A G upstream_gene_variant LIRI-JP 13 61104398 61104398 single base substitution A G downstream_gene_variant LIRI-JP 13 61104398 61104398 single base substitution A G intron_variant LIRI-JP 13 61105882 61105882 single base substitution G T downstream_gene_variant LIRI-JP 13 61105882 61105882 single base substitution G T intron_variant LIRI-JP 13 61109511 61109511 single base substitution T A exon_variant LIRI-JP 13 61109511 61109511 single base substitution T A intron_variant LIRI-JP 13 61110313 61110316 deletion of <=200bp AAAT - downstream_gene_variant LIRI-JP 13 61110313 61110316 deletion of <=200bp AAAT - intron_variant LIRI-JP 13 61110383 61110383 single base substitution T A downstream_gene_variant LIRI-JP 13 61110383 61110383 single base substitution T A intron_variant LIRI-JP 13 61110869 61110869 deletion of <=200bp T - downstream_gene_variant LIRI-JP 13 61110869 61110869 deletion of <=200bp T - intron_variant LIRI-JP 13 61116803 61116803 single base substitution A G intron_variant LIRI-JP 13 61116831 61116831 single base substitution A G intron_variant LIRI-JP 13 61119261 61119261 single base substitution A G intron_variant LIRI-JP 13 61119879 61119879 single base substitution A T intron_variant LIRI-JP 13 61122203 61122203 single base substitution A G intron_variant LIRI-JP 13 61122822 61122822 single base substitution A G intron_variant LIRI-JP 13 61122938 61122938 single base substitution A G intron_variant LIRI-JP 13 61126641 61126641 single base substitution C A intron_variant LIRI-JP 13 61128641 61128641 single base substitution A G intron_variant LIRI-JP 13 61130986 61130986 single base substitution T C intron_variant LIRI-JP 13 61131012 61131012 single base substitution T C intron_variant LIRI-JP 13 61133415 61133415 single base substitution G T intron_variant LIRI-JP 13 61133780 61133780 single base substitution A G intron_variant LIRI-JP 13 61134158 61134158 single base substitution T A intron_variant LIRI-JP 13 61135442 61135442 single base substitution G T intron_variant LIRI-JP 13 61137880 61137880 single base substitution A G intron_variant LIRI-JP 13 61138403 61138403 single base substitution G A intron_variant LIRI-JP 13 61138688 61138688 single base substitution G A intron_variant LIRI-JP 13 61141073 61141073 single base substitution G T intron_variant LIRI-JP 13 61141354 61141354 single base substitution G T intron_variant LIRI-JP 13 61141400 61141400 single base substitution A G intron_variant LIRI-JP 13 61141857 61141857 single base substitution A C intron_variant LIRI-JP 13 61141927 61141927 single base substitution G T intron_variant LIRI-JP 13 61143591 61143591 single base substitution C G intron_variant LIRI-JP 13 61144832 61144832 single base substitution C A intron_variant LIRI-JP 13 61145950 61145950 single base substitution G A intron_variant LIRI-JP 13 61146087 61146087 single base substitution C A intron_variant LIRI-JP 13 61147982 61147982 single base substitution G T 3_prime_UTR_variant LIRI-JP 13 61148710 61148710 single base substitution G T downstream_gene_variant LIRI-JP 13 61150302 61150302 single base substitution G A downstream_gene_variant LIRI-JP 13 61151011 61151011 single base substitution G C downstream_gene_variant LIRI-JP 13 61152069 61152069 single base substitution C A downstream_gene_variant LUSC-KR 13 60967097 60967097 single base substitution A T upstream_gene_variant LUSC-KR 13 60967812 60967812 single base substitution C G upstream_gene_variant LUSC-KR 13 60978463 60978463 single base substitution G T intron_variant LUSC-KR 13 60980668 60980668 single base substitution G A intron_variant LUSC-KR 13 60987952 60987952 single base substitution A G intron_variant LUSC-KR 13 60988405 60988405 single base substitution G T intron_variant LUSC-KR 13 60993393 60993393 single base substitution G T intron_variant LUSC-KR 13 60995946 60995946 single base substitution G A intron_variant LUSC-KR 13 60998631 60998631 single base substitution C A intron_variant LUSC-KR 13 61005817 61005817 single base substitution C A intron_variant LUSC-KR 13 61005817 61005817 single base substitution C A upstream_gene_variant LUSC-KR 13 61015338 61015338 single base substitution A T intron_variant LUSC-KR 13 61015338 61015338 single base substitution A T upstream_gene_variant LUSC-KR 13 61016186 61016186 single base substitution A T intron_variant LUSC-KR 13 61016186 61016186 single base substitution A T upstream_gene_variant LUSC-KR 13 61016806 61016806 single base substitution C A intron_variant LUSC-KR 13 61016806 61016806 single base substitution C A upstream_gene_variant LUSC-KR 13 61023834 61023834 single base substitution A T intron_variant LUSC-KR 13 61024453 61024453 single base substitution C A intron_variant LUSC-KR 13 61028886 61028886 single base substitution T A intron_variant LUSC-KR 13 61030494 61030494 single base substitution C T intron_variant LUSC-KR 13 61032368 61032368 single base substitution C A intron_variant LUSC-KR 13 61033642 61033642 single base substitution A G intron_variant LUSC-KR 13 61036283 61036283 single base substitution G A downstream_gene_variant LUSC-KR 13 61036283 61036283 single base substitution G A intron_variant LUSC-KR 13 61037963 61037963 single base substitution G T downstream_gene_variant LUSC-KR 13 61037963 61037963 single base substitution G T intron_variant LUSC-KR 13 61039465 61039465 single base substitution G T downstream_gene_variant LUSC-KR 13 61039465 61039465 single base substitution G T intron_variant LUSC-KR 13 61042647 61042647 single base substitution G C intron_variant LUSC-KR 13 61044676 61044676 single base substitution G C intron_variant LUSC-KR 13 61044994 61044994 single base substitution G T intron_variant LUSC-KR 13 61051041 61051041 single base substitution G A intron_variant LUSC-KR 13 61051158 61051158 single base substitution A G intron_variant LUSC-KR 13 61052331 61052331 single base substitution T A intron_variant LUSC-KR 13 61052453 61052453 single base substitution T G intron_variant LUSC-KR 13 61066488 61066488 single base substitution A T intron_variant LUSC-KR 13 61067126 61067126 single base substitution C T intron_variant LUSC-KR 13 61070894 61070894 single base substitution A T intron_variant LUSC-KR 13 61071162 61071162 single base substitution C T intron_variant LUSC-KR 13 61073208 61073208 single base substitution G T intron_variant LUSC-KR 13 61084932 61084932 single base substitution C T intron_variant LUSC-KR 13 61088631 61088631 single base substitution A G intron_variant LUSC-KR 13 61094338 61094338 single base substitution G A intron_variant LUSC-KR 13 61096092 61096092 single base substitution A T intron_variant LUSC-KR 13 61100391 61100391 single base substitution T C intron_variant LUSC-KR 13 61100391 61100391 single base substitution T C upstream_gene_variant LUSC-KR 13 61103473 61103473 single base substitution C A downstream_gene_variant LUSC-KR 13 61103473 61103473 single base substitution C A intron_variant LUSC-KR 13 61114972 61114972 single base substitution A T intron_variant LUSC-KR 13 61117323 61117323 single base substitution G C intron_variant LUSC-KR 13 61125022 61125022 single base substitution A G intron_variant LUSC-KR 13 61127713 61127713 single base substitution G A intron_variant LUSC-KR 13 61130552 61130552 single base substitution G C intron_variant LUSC-KR 13 61137173 61137173 single base substitution G T intron_variant LUSC-KR 13 61141855 61141855 single base substitution T A intron_variant LUSC-KR 13 61152236 61152236 single base substitution G A downstream_gene_variant LUSC-US 13 61041372 61041372 single base substitution C T splice_region_variant LUSC-US 13 61041373 61041373 single base substitution C T splice_region_variant LUSC-US 13 61083927 61083927 single base substitution G T 3_prime_UTR_variant LUSC-US 13 61083927 61083927 single base substitution G T stop_gained E204* 610G>T LUSC-US 13 61083927 61083927 single base substitution G T stop_gained E297* 889G>T LUSC-US 13 61084796 61084796 single base substitution G C 3_prime_UTR_variant LUSC-US 13 61084796 61084796 single base substitution G C missense_variant E257Q 769G>C LUSC-US 13 61084796 61084796 single base substitution G C missense_variant E350Q 1048G>C LUSC-US 13 61102614 61102614 single base substitution A G 3_prime_UTR_variant LUSC-US 13 61102614 61102614 single base substitution A G missense_variant R326G 976A>G LUSC-US 13 61102614 61102614 single base substitution A G missense_variant R419G 1255A>G LUSC-US 13 61102614 61102614 single base substitution A G upstream_gene_variant MALY-DE 13 60966128 60966128 single base substitution T G upstream_gene_variant MALY-DE 13 60966317 60966317 single base substitution A T upstream_gene_variant MALY-DE 13 60984786 60984786 single base substitution A G intron_variant MALY-DE 13 61004782 61004782 single base substitution G A intron_variant MALY-DE 13 61004782 61004782 single base substitution G A upstream_gene_variant MALY-DE 13 61005642 61005642 single base substitution T C intron_variant MALY-DE 13 61005642 61005642 single base substitution T C upstream_gene_variant MALY-DE 13 61005879 61005879 single base substitution A T intron_variant MALY-DE 13 61005879 61005879 single base substitution A T upstream_gene_variant MALY-DE 13 61012736 61012736 single base substitution C T intron_variant MALY-DE 13 61020620 61020620 single base substitution C T intron_variant MALY-DE 13 61022757 61022757 single base substitution T C intron_variant MALY-DE 13 61025692 61025692 single base substitution T C intron_variant MALY-DE 13 61029695 61029695 single base substitution T A intron_variant MALY-DE 13 61035811 61035811 single base substitution T C downstream_gene_variant MALY-DE 13 61035811 61035811 single base substitution T C intron_variant MALY-DE 13 61036309 61036309 deletion of <=200bp A - downstream_gene_variant MALY-DE 13 61036309 61036309 deletion of <=200bp A - intron_variant MALY-DE 13 61058665 61058666 deletion of <=200bp GT - intron_variant MALY-DE 13 61064542 61064542 single base substitution C T downstream_gene_variant MALY-DE 13 61064542 61064542 single base substitution C T intron_variant MALY-DE 13 61065931 61065931 single base substitution T G intron_variant MALY-DE 13 61067901 61067901 single base substitution C A intron_variant MALY-DE 13 61078406 61078406 single base substitution A G intron_variant MALY-DE 13 61085302 61085302 single base substitution A C intron_variant MALY-DE 13 61104211 61104211 single base substitution T G downstream_gene_variant MALY-DE 13 61104211 61104211 single base substitution T G intron_variant MALY-DE 13 61106045 61106045 single base substitution G A downstream_gene_variant MALY-DE 13 61106045 61106045 single base substitution G A intron_variant MALY-DE 13 61106766 61106766 single base substitution A T downstream_gene_variant MALY-DE 13 61106766 61106766 single base substitution A T intron_variant MALY-DE 13 61107095 61107095 single base substitution C T downstream_gene_variant MALY-DE 13 61107095 61107095 single base substitution C T intron_variant MALY-DE 13 61108181 61108181 single base substitution A G intron_variant MALY-DE 13 61116312 61116316 deletion of <=200bp TTTAC - intron_variant MALY-DE 13 61117703 61117703 single base substitution A T intron_variant MALY-DE 13 61122652 61122652 single base substitution A C intron_variant MALY-DE 13 61123231 61123231 single base substitution A G intron_variant MALY-DE 13 61123329 61123329 single base substitution G A intron_variant MALY-DE 13 61123330 61123330 single base substitution A C intron_variant MALY-DE 13 61129554 61129554 single base substitution C A intron_variant MALY-DE 13 61134217 61134217 single base substitution A G intron_variant MALY-DE 13 61136436 61136436 single base substitution G A intron_variant MALY-DE 13 61138110 61138110 single base substitution G C intron_variant MALY-DE 13 61138829 61138829 single base substitution A T intron_variant MALY-DE 13 61140229 61140229 single base substitution T C intron_variant MALY-DE 13 61140478 61140478 single base substitution T C intron_variant MALY-DE 13 61143090 61143090 deletion of <=200bp T - intron_variant MALY-DE 13 61149975 61149975 single base substitution C T downstream_gene_variant MALY-DE 13 61150942 61150942 deletion of <=200bp A - downstream_gene_variant MALY-DE 13 61151736 61151736 single base substitution A C downstream_gene_variant MALY-DE 13 61152978 61152978 single base substitution G A downstream_gene_variant MELA-AU 13 60965617 60965617 single base substitution G A upstream_gene_variant MELA-AU 13 60965630 60965631 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 60965651 60965651 single base substitution G A upstream_gene_variant MELA-AU 13 60966346 60966346 single base substitution T C upstream_gene_variant MELA-AU 13 60966661 60966661 single base substitution T C upstream_gene_variant MELA-AU 13 60967431 60967431 single base substitution G A upstream_gene_variant MELA-AU 13 60967533 60967533 single base substitution G A upstream_gene_variant MELA-AU 13 60967603 60967603 single base substitution C T upstream_gene_variant MELA-AU 13 60967796 60967796 single base substitution G A upstream_gene_variant MELA-AU 13 60967814 60967814 single base substitution C T upstream_gene_variant MELA-AU 13 60967836 60967836 single base substitution C T upstream_gene_variant MELA-AU 13 60968145 60968145 single base substitution G A upstream_gene_variant MELA-AU 13 60968186 60968186 single base substitution G A upstream_gene_variant MELA-AU 13 60968239 60968239 single base substitution G T upstream_gene_variant MELA-AU 13 60968289 60968289 single base substitution C T upstream_gene_variant MELA-AU 13 60968741 60968741 single base substitution G A upstream_gene_variant MELA-AU 13 60970134 60970134 single base substitution G A upstream_gene_variant MELA-AU 13 60970764 60970764 single base substitution C T 5_prime_UTR_variant MELA-AU 13 60970764 60970764 single base substitution C T upstream_gene_variant MELA-AU 13 60973181 60973181 single base substitution A T intron_variant MELA-AU 13 60974809 60974809 single base substitution T C intron_variant MELA-AU 13 60975032 60975032 single base substitution C A intron_variant MELA-AU 13 60975314 60975314 single base substitution C T intron_variant MELA-AU 13 60975973 60975973 single base substitution C T intron_variant MELA-AU 13 60976526 60976526 single base substitution T C intron_variant MELA-AU 13 60977395 60977395 single base substitution C T intron_variant MELA-AU 13 60977698 60977699 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 13 60977771 60977771 single base substitution C T intron_variant MELA-AU 13 60977991 60977991 single base substitution T A intron_variant MELA-AU 13 60978787 60978787 single base substitution G A intron_variant MELA-AU 13 60980856 60980856 single base substitution T C intron_variant MELA-AU 13 60980954 60980954 single base substitution A C intron_variant MELA-AU 13 60981151 60981151 single base substitution C T intron_variant MELA-AU 13 60981672 60981672 single base substitution C T intron_variant MELA-AU 13 60982006 60982006 single base substitution C T intron_variant MELA-AU 13 60982096 60982096 single base substitution C T intron_variant MELA-AU 13 60982141 60982141 single base substitution C T intron_variant MELA-AU 13 60982652 60982652 single base substitution C T intron_variant MELA-AU 13 60982745 60982745 single base substitution C T intron_variant MELA-AU 13 60982967 60982967 single base substitution C T intron_variant MELA-AU 13 60983127 60983127 single base substitution C T intron_variant MELA-AU 13 60984779 60984779 single base substitution A G intron_variant MELA-AU 13 60985140 60985140 single base substitution G A intron_variant MELA-AU 13 60985947 60985947 single base substitution T A intron_variant MELA-AU 13 60985989 60985989 single base substitution C T intron_variant MELA-AU 13 60986331 60986331 single base substitution G T intron_variant MELA-AU 13 60986351 60986351 single base substitution A G intron_variant MELA-AU 13 60986472 60986472 single base substitution G A intron_variant MELA-AU 13 60986976 60986976 single base substitution C T intron_variant MELA-AU 13 60987103 60987103 single base substitution T C intron_variant MELA-AU 13 60987118 60987118 single base substitution C T intron_variant MELA-AU 13 60987174 60987174 single base substitution C T intron_variant MELA-AU 13 60989462 60989462 single base substitution C T intron_variant MELA-AU 13 60989773 60989773 single base substitution T G intron_variant MELA-AU 13 60990240 60990240 single base substitution A T intron_variant MELA-AU 13 60990638 60990638 single base substitution C T intron_variant MELA-AU 13 60990950 60990950 single base substitution C T intron_variant MELA-AU 13 60991992 60991992 single base substitution C T intron_variant MELA-AU 13 60992541 60992541 single base substitution T A intron_variant MELA-AU 13 60994118 60994118 single base substitution T C intron_variant MELA-AU 13 60994544 60994544 single base substitution T A intron_variant MELA-AU 13 60994842 60994842 single base substitution C G intron_variant MELA-AU 13 60994933 60994933 single base substitution C T intron_variant MELA-AU 13 60994936 60994936 single base substitution G A intron_variant MELA-AU 13 60995360 60995360 single base substitution C T intron_variant MELA-AU 13 60995744 60995744 single base substitution C T intron_variant MELA-AU 13 60996471 60996471 single base substitution G A intron_variant MELA-AU 13 60996523 60996523 single base substitution A G intron_variant MELA-AU 13 60996597 60996597 single base substitution C T intron_variant MELA-AU 13 60997071 60997071 single base substitution C T intron_variant MELA-AU 13 60997172 60997172 single base substitution C T intron_variant MELA-AU 13 60998247 60998248 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 60998506 60998506 single base substitution C T intron_variant MELA-AU 13 60998596 60998596 single base substitution G A intron_variant MELA-AU 13 60999143 60999143 single base substitution A G intron_variant MELA-AU 13 60999990 60999990 single base substitution C T intron_variant MELA-AU 13 61000045 61000045 single base substitution T G intron_variant MELA-AU 13 61000591 61000591 single base substitution T A intron_variant MELA-AU 13 61001411 61001411 single base substitution A G intron_variant MELA-AU 13 61001431 61001431 single base substitution T C intron_variant MELA-AU 13 61001574 61001574 single base substitution C T intron_variant MELA-AU 13 61001613 61001613 single base substitution T C intron_variant MELA-AU 13 61001714 61001714 single base substitution C T intron_variant MELA-AU 13 61001954 61001954 single base substitution T A intron_variant MELA-AU 13 61002865 61002865 single base substitution G A intron_variant MELA-AU 13 61003378 61003378 single base substitution C T intron_variant MELA-AU 13 61003378 61003378 single base substitution C T upstream_gene_variant MELA-AU 13 61004400 61004400 single base substitution C T intron_variant MELA-AU 13 61004400 61004400 single base substitution C T upstream_gene_variant MELA-AU 13 61004414 61004414 single base substitution T C intron_variant MELA-AU 13 61004414 61004414 single base substitution T C upstream_gene_variant MELA-AU 13 61005319 61005319 single base substitution C T intron_variant MELA-AU 13 61005319 61005319 single base substitution C T upstream_gene_variant MELA-AU 13 61005920 61005920 single base substitution A C intron_variant MELA-AU 13 61005920 61005920 single base substitution A C upstream_gene_variant MELA-AU 13 61007429 61007429 single base substitution C T intron_variant MELA-AU 13 61007429 61007429 single base substitution C T upstream_gene_variant MELA-AU 13 61008000 61008000 single base substitution G A intron_variant MELA-AU 13 61008000 61008000 single base substitution G A upstream_gene_variant MELA-AU 13 61008359 61008359 single base substitution T A intron_variant MELA-AU 13 61008523 61008523 single base substitution G A intron_variant MELA-AU 13 61008611 61008611 single base substitution A T intron_variant MELA-AU 13 61009203 61009203 single base substitution T A intron_variant MELA-AU 13 61009217 61009217 single base substitution C T intron_variant MELA-AU 13 61009258 61009258 single base substitution C T intron_variant MELA-AU 13 61009576 61009576 single base substitution C T intron_variant MELA-AU 13 61009879 61009879 single base substitution C T intron_variant MELA-AU 13 61011302 61011302 single base substitution C T intron_variant MELA-AU 13 61012064 61012064 single base substitution C T intron_variant MELA-AU 13 61012112 61012112 single base substitution C T intron_variant MELA-AU 13 61012289 61012289 single base substitution G A intron_variant MELA-AU 13 61012361 61012361 single base substitution C T intron_variant MELA-AU 13 61012487 61012487 single base substitution C T intron_variant MELA-AU 13 61012672 61012672 single base substitution C T intron_variant MELA-AU 13 61014707 61014707 single base substitution C T intron_variant MELA-AU 13 61014707 61014707 single base substitution C T upstream_gene_variant MELA-AU 13 61014924 61014925 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 13 61014924 61014925 multiple base substitution (>=2bp and <=200bp) AC GT upstream_gene_variant MELA-AU 13 61014973 61014973 single base substitution C T intron_variant MELA-AU 13 61014973 61014973 single base substitution C T upstream_gene_variant MELA-AU 13 61015219 61015219 single base substitution T A intron_variant MELA-AU 13 61015219 61015219 single base substitution T A upstream_gene_variant MELA-AU 13 61017766 61017767 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 61017766 61017767 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 61018435 61018435 single base substitution C T intron_variant MELA-AU 13 61018435 61018435 single base substitution C T upstream_gene_variant MELA-AU 13 61018788 61018788 single base substitution C T intron_variant MELA-AU 13 61018788 61018788 single base substitution C T upstream_gene_variant MELA-AU 13 61019742 61019742 single base substitution C T intron_variant MELA-AU 13 61020086 61020086 single base substitution T C intron_variant MELA-AU 13 61020401 61020401 single base substitution G A intron_variant MELA-AU 13 61021073 61021073 single base substitution G T intron_variant MELA-AU 13 61021288 61021288 single base substitution A G intron_variant MELA-AU 13 61021850 61021850 single base substitution C T intron_variant MELA-AU 13 61021972 61021972 single base substitution A T intron_variant MELA-AU 13 61022861 61022861 single base substitution C T intron_variant MELA-AU 13 61023362 61023362 single base substitution C T intron_variant MELA-AU 13 61023400 61023400 single base substitution C T intron_variant MELA-AU 13 61023948 61023948 single base substitution C T intron_variant MELA-AU 13 61025147 61025147 single base substitution C G intron_variant MELA-AU 13 61026896 61026896 single base substitution A T intron_variant MELA-AU 13 61027804 61027805 multiple base substitution (>=2bp and <=200bp) TT AG intron_variant MELA-AU 13 61027916 61027916 single base substitution T A intron_variant MELA-AU 13 61028134 61028134 single base substitution A G intron_variant MELA-AU 13 61028477 61028477 single base substitution G C intron_variant MELA-AU 13 61028548 61028548 single base substitution C T intron_variant MELA-AU 13 61028598 61028598 single base substitution T C intron_variant MELA-AU 13 61028980 61028980 single base substitution T C intron_variant MELA-AU 13 61030412 61030412 deletion of <=200bp A - intron_variant MELA-AU 13 61031027 61031027 single base substitution C T intron_variant MELA-AU 13 61031081 61031081 single base substitution C T intron_variant MELA-AU 13 61031634 61031634 single base substitution C T intron_variant MELA-AU 13 61031837 61031837 single base substitution A C intron_variant MELA-AU 13 61032295 61032295 single base substitution C T intron_variant MELA-AU 13 61032578 61032578 single base substitution C T intron_variant MELA-AU 13 61033049 61033049 single base substitution A C intron_variant MELA-AU 13 61034152 61034152 single base substitution G A intron_variant MELA-AU 13 61034530 61034530 insertion of <=200bp - T 5_prime_UTR_variant MELA-AU 13 61034530 61034530 insertion of <=200bp - T exon_variant MELA-AU 13 61034530 61034530 insertion of <=200bp - T frameshift_variant V70V? MELA-AU 13 61034792 61034792 single base substitution C A exon_variant MELA-AU 13 61034792 61034792 single base substitution C A intron_variant MELA-AU 13 61035251 61035251 single base substitution T A downstream_gene_variant MELA-AU 13 61035251 61035251 single base substitution T A intron_variant MELA-AU 13 61035308 61035308 single base substitution C T downstream_gene_variant MELA-AU 13 61035308 61035308 single base substitution C T intron_variant MELA-AU 13 61035749 61035749 single base substitution T C downstream_gene_variant MELA-AU 13 61035749 61035749 single base substitution T C intron_variant MELA-AU 13 61035841 61035841 single base substitution C T downstream_gene_variant MELA-AU 13 61035841 61035841 single base substitution C T intron_variant MELA-AU 13 61036950 61036950 single base substitution C T downstream_gene_variant MELA-AU 13 61036950 61036950 single base substitution C T intron_variant MELA-AU 13 61037212 61037212 single base substitution C T downstream_gene_variant MELA-AU 13 61037212 61037212 single base substitution C T intron_variant MELA-AU 13 61040102 61040102 single base substitution C T downstream_gene_variant MELA-AU 13 61040102 61040102 single base substitution C T intron_variant MELA-AU 13 61040258 61040258 single base substitution T A intron_variant MELA-AU 13 61040276 61040276 single base substitution A T intron_variant MELA-AU 13 61040598 61040598 single base substitution A T intron_variant MELA-AU 13 61041113 61041113 single base substitution T G intron_variant MELA-AU 13 61042044 61042044 single base substitution C T intron_variant MELA-AU 13 61042082 61042082 single base substitution T A intron_variant MELA-AU 13 61044240 61044240 single base substitution T C intron_variant MELA-AU 13 61044913 61044913 single base substitution C T intron_variant MELA-AU 13 61045966 61045966 single base substitution C T intron_variant MELA-AU 13 61046086 61046086 single base substitution T C intron_variant MELA-AU 13 61046780 61046780 single base substitution C T intron_variant MELA-AU 13 61047087 61047087 single base substitution T C intron_variant MELA-AU 13 61047441 61047441 single base substitution C T intron_variant MELA-AU 13 61047518 61047518 single base substitution C T intron_variant MELA-AU 13 61047747 61047747 single base substitution C T intron_variant MELA-AU 13 61047981 61047982 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 61048492 61048492 single base substitution C T intron_variant MELA-AU 13 61048843 61048843 single base substitution C T intron_variant MELA-AU 13 61049371 61049371 single base substitution C T intron_variant MELA-AU 13 61049380 61049380 single base substitution T G intron_variant MELA-AU 13 61049385 61049385 single base substitution C T intron_variant MELA-AU 13 61050530 61050530 single base substitution C T intron_variant MELA-AU 13 61050622 61050622 single base substitution A T intron_variant MELA-AU 13 61051471 61051471 single base substitution C T intron_variant MELA-AU 13 61052228 61052228 single base substitution C T intron_variant MELA-AU 13 61052857 61052857 single base substitution C T intron_variant MELA-AU 13 61053008 61053008 single base substitution G C intron_variant MELA-AU 13 61053062 61053062 single base substitution T C intron_variant MELA-AU 13 61053575 61053575 single base substitution C T intron_variant MELA-AU 13 61054373 61054373 single base substitution C T intron_variant MELA-AU 13 61054747 61054747 single base substitution T G intron_variant MELA-AU 13 61054987 61054987 single base substitution C T intron_variant MELA-AU 13 61055089 61055089 single base substitution G A intron_variant MELA-AU 13 61055365 61055365 single base substitution T C intron_variant MELA-AU 13 61055713 61055713 single base substitution T A intron_variant MELA-AU 13 61055947 61055947 single base substitution G A intron_variant MELA-AU 13 61055986 61055986 single base substitution C T intron_variant MELA-AU 13 61056602 61056602 single base substitution T A intron_variant MELA-AU 13 61057894 61057894 single base substitution G A intron_variant MELA-AU 13 61059122 61059122 single base substitution T A intron_variant MELA-AU 13 61060277 61060277 single base substitution C T downstream_gene_variant MELA-AU 13 61060277 61060277 single base substitution C T intron_variant MELA-AU 13 61060594 61060594 single base substitution C T downstream_gene_variant MELA-AU 13 61060594 61060594 single base substitution C T intron_variant MELA-AU 13 61061043 61061043 single base substitution C T downstream_gene_variant MELA-AU 13 61061043 61061043 single base substitution C T intron_variant MELA-AU 13 61061770 61061770 single base substitution G A downstream_gene_variant MELA-AU 13 61061770 61061770 single base substitution G A intron_variant MELA-AU 13 61062638 61062638 single base substitution C T downstream_gene_variant MELA-AU 13 61062638 61062638 single base substitution C T intron_variant MELA-AU 13 61062847 61062847 single base substitution A T downstream_gene_variant MELA-AU 13 61062847 61062847 single base substitution A T intron_variant MELA-AU 13 61062871 61062871 single base substitution C G downstream_gene_variant MELA-AU 13 61062871 61062871 single base substitution C G intron_variant MELA-AU 13 61063092 61063092 single base substitution C G downstream_gene_variant MELA-AU 13 61063092 61063092 single base substitution C G intron_variant MELA-AU 13 61063890 61063890 single base substitution C T downstream_gene_variant MELA-AU 13 61063890 61063890 single base substitution C T intron_variant MELA-AU 13 61064486 61064486 single base substitution C T downstream_gene_variant MELA-AU 13 61064486 61064486 single base substitution C T intron_variant MELA-AU 13 61064557 61064557 single base substitution A T downstream_gene_variant MELA-AU 13 61064557 61064557 single base substitution A T intron_variant MELA-AU 13 61064627 61064627 single base substitution G A downstream_gene_variant MELA-AU 13 61064627 61064627 single base substitution G A intron_variant MELA-AU 13 61065787 61065787 single base substitution C G intron_variant MELA-AU 13 61066262 61066262 single base substitution C T intron_variant MELA-AU 13 61067406 61067406 single base substitution C T intron_variant MELA-AU 13 61067493 61067493 single base substitution C A intron_variant MELA-AU 13 61068420 61068420 single base substitution C T intron_variant MELA-AU 13 61068450 61068450 single base substitution C T intron_variant MELA-AU 13 61068558 61068558 single base substitution C G intron_variant MELA-AU 13 61069116 61069116 single base substitution C T intron_variant MELA-AU 13 61070124 61070124 single base substitution T C intron_variant MELA-AU 13 61071044 61071044 single base substitution C T intron_variant MELA-AU 13 61071409 61071410 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 61071626 61071626 single base substitution C T intron_variant MELA-AU 13 61072316 61072316 single base substitution C T intron_variant MELA-AU 13 61072782 61072782 single base substitution C T intron_variant MELA-AU 13 61072783 61072783 single base substitution C T intron_variant MELA-AU 13 61072836 61072836 single base substitution T C intron_variant MELA-AU 13 61072864 61072864 single base substitution C T intron_variant MELA-AU 13 61073016 61073016 single base substitution T C intron_variant MELA-AU 13 61073105 61073105 single base substitution C T intron_variant MELA-AU 13 61073107 61073107 single base substitution C T intron_variant MELA-AU 13 61073446 61073446 single base substitution C T intron_variant MELA-AU 13 61073852 61073852 single base substitution C T intron_variant MELA-AU 13 61074671 61074672 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 61075065 61075065 single base substitution C T intron_variant MELA-AU 13 61075232 61075232 single base substitution C T intron_variant MELA-AU 13 61076115 61076115 single base substitution C T intron_variant MELA-AU 13 61077533 61077533 single base substitution C T intron_variant MELA-AU 13 61077792 61077792 single base substitution C T intron_variant MELA-AU 13 61078167 61078167 single base substitution C T intron_variant MELA-AU 13 61078193 61078193 deletion of <=200bp G - intron_variant MELA-AU 13 61078246 61078246 single base substitution T C intron_variant MELA-AU 13 61078348 61078348 single base substitution T A intron_variant MELA-AU 13 61078819 61078819 single base substitution C T intron_variant MELA-AU 13 61079041 61079041 single base substitution C T intron_variant MELA-AU 13 61079250 61079250 single base substitution T G intron_variant MELA-AU 13 61079667 61079667 single base substitution C T intron_variant MELA-AU 13 61079928 61079928 single base substitution C T intron_variant MELA-AU 13 61080078 61080078 single base substitution T C intron_variant MELA-AU 13 61080182 61080182 single base substitution C T intron_variant MELA-AU 13 61082535 61082535 single base substitution A T intron_variant MELA-AU 13 61082540 61082540 deletion of <=200bp G - intron_variant MELA-AU 13 61083011 61083011 single base substitution C T intron_variant MELA-AU 13 61083126 61083126 single base substitution C A intron_variant MELA-AU 13 61083150 61083150 single base substitution A G intron_variant MELA-AU 13 61083368 61083368 single base substitution C T intron_variant MELA-AU 13 61084335 61084335 single base substitution G A intron_variant MELA-AU 13 61084593 61084593 single base substitution T C intron_variant MELA-AU 13 61084671 61084671 single base substitution C T intron_variant MELA-AU 13 61086168 61086168 single base substitution T A intron_variant MELA-AU 13 61086837 61086837 single base substitution C T intron_variant MELA-AU 13 61086985 61086985 single base substitution C T intron_variant MELA-AU 13 61087307 61087307 single base substitution T C intron_variant MELA-AU 13 61087436 61087436 single base substitution C T intron_variant MELA-AU 13 61087507 61087507 single base substitution C T intron_variant MELA-AU 13 61087543 61087543 deletion of <=200bp A - intron_variant MELA-AU 13 61087975 61087975 single base substitution C T intron_variant MELA-AU 13 61088182 61088182 single base substitution C T intron_variant MELA-AU 13 61088543 61088543 single base substitution T G intron_variant MELA-AU 13 61088829 61088829 single base substitution G A intron_variant MELA-AU 13 61089509 61089509 single base substitution C T intron_variant MELA-AU 13 61091915 61091915 single base substitution T C intron_variant MELA-AU 13 61093074 61093074 single base substitution T G intron_variant MELA-AU 13 61093300 61093300 single base substitution C T intron_variant MELA-AU 13 61093318 61093318 single base substitution C G intron_variant MELA-AU 13 61093477 61093477 single base substitution A G intron_variant MELA-AU 13 61093563 61093563 single base substitution C T intron_variant MELA-AU 13 61093730 61093730 single base substitution G A intron_variant MELA-AU 13 61094716 61094716 single base substitution A G intron_variant MELA-AU 13 61095266 61095266 single base substitution C T intron_variant MELA-AU 13 61095778 61095778 single base substitution C T intron_variant MELA-AU 13 61096645 61096646 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 61097267 61097267 single base substitution T C intron_variant MELA-AU 13 61098104 61098104 single base substitution T C intron_variant MELA-AU 13 61098104 61098104 single base substitution T C upstream_gene_variant MELA-AU 13 61098302 61098303 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 61098302 61098303 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 61098498 61098498 single base substitution G A intron_variant MELA-AU 13 61098498 61098498 single base substitution G A upstream_gene_variant MELA-AU 13 61098638 61098638 single base substitution C T intron_variant MELA-AU 13 61098638 61098638 single base substitution C T upstream_gene_variant MELA-AU 13 61098834 61098834 single base substitution G T intron_variant MELA-AU 13 61098834 61098834 single base substitution G T upstream_gene_variant MELA-AU 13 61099577 61099577 single base substitution G A intron_variant MELA-AU 13 61099577 61099577 single base substitution G A upstream_gene_variant MELA-AU 13 61100896 61100896 single base substitution T C intron_variant MELA-AU 13 61100896 61100896 single base substitution T C upstream_gene_variant MELA-AU 13 61101263 61101263 single base substitution C T intron_variant MELA-AU 13 61101263 61101263 single base substitution C T upstream_gene_variant MELA-AU 13 61101791 61101791 single base substitution C T intron_variant MELA-AU 13 61101791 61101791 single base substitution C T upstream_gene_variant MELA-AU 13 61101861 61101861 single base substitution A T intron_variant MELA-AU 13 61101861 61101861 single base substitution A T upstream_gene_variant MELA-AU 13 61102587 61102587 single base substitution C G 3_prime_UTR_variant MELA-AU 13 61102587 61102587 single base substitution C G missense_variant L317V 949C>G MELA-AU 13 61102587 61102587 single base substitution C G missense_variant L410V 1228C>G MELA-AU 13 61102587 61102587 single base substitution C G upstream_gene_variant MELA-AU 13 61103095 61103095 single base substitution G A downstream_gene_variant MELA-AU 13 61103095 61103095 single base substitution G A missense_variant R486Q 1457G>A MELA-AU 13 61103095 61103095 single base substitution G A missense_variant R579Q 1736G>A MELA-AU 13 61103095 61103095 single base substitution G A upstream_gene_variant MELA-AU 13 61104106 61104106 single base substitution T A downstream_gene_variant MELA-AU 13 61104106 61104106 single base substitution T A intron_variant MELA-AU 13 61105406 61105406 single base substitution C T downstream_gene_variant MELA-AU 13 61105406 61105406 single base substitution C T intron_variant MELA-AU 13 61105521 61105522 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 13 61105521 61105522 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 13 61106921 61106921 single base substitution C T downstream_gene_variant MELA-AU 13 61106921 61106921 single base substitution C T intron_variant MELA-AU 13 61107508 61107508 single base substitution C T downstream_gene_variant MELA-AU 13 61107508 61107508 single base substitution C T intron_variant MELA-AU 13 61107708 61107708 single base substitution G A downstream_gene_variant MELA-AU 13 61107708 61107708 single base substitution G A intron_variant MELA-AU 13 61107996 61107996 single base substitution T C intron_variant MELA-AU 13 61109176 61109176 single base substitution C T intron_variant MELA-AU 13 61109676 61109676 single base substitution C T downstream_gene_variant MELA-AU 13 61109676 61109676 single base substitution C T intron_variant MELA-AU 13 61110083 61110083 single base substitution A C downstream_gene_variant MELA-AU 13 61110083 61110083 single base substitution A C intron_variant MELA-AU 13 61110087 61110087 single base substitution C T downstream_gene_variant MELA-AU 13 61110087 61110087 single base substitution C T intron_variant MELA-AU 13 61111080 61111080 single base substitution C T downstream_gene_variant MELA-AU 13 61111080 61111080 single base substitution C T intron_variant MELA-AU 13 61111239 61111239 single base substitution C T downstream_gene_variant MELA-AU 13 61111239 61111239 single base substitution C T intron_variant MELA-AU 13 61111982 61111982 single base substitution T C downstream_gene_variant MELA-AU 13 61111982 61111982 single base substitution T C intron_variant MELA-AU 13 61112309 61112309 single base substitution G T downstream_gene_variant MELA-AU 13 61112309 61112309 single base substitution G T intron_variant MELA-AU 13 61112770 61112770 single base substitution C T downstream_gene_variant MELA-AU 13 61112770 61112770 single base substitution C T intron_variant MELA-AU 13 61113082 61113082 single base substitution G A downstream_gene_variant MELA-AU 13 61113082 61113082 single base substitution G A intron_variant MELA-AU 13 61113097 61113097 single base substitution T A downstream_gene_variant MELA-AU 13 61113097 61113097 single base substitution T A intron_variant MELA-AU 13 61113100 61113100 single base substitution A C downstream_gene_variant MELA-AU 13 61113100 61113100 single base substitution A C intron_variant MELA-AU 13 61113266 61113266 single base substitution C T downstream_gene_variant MELA-AU 13 61113266 61113266 single base substitution C T intron_variant MELA-AU 13 61115292 61115292 single base substitution T G intron_variant MELA-AU 13 61116102 61116102 single base substitution C T intron_variant MELA-AU 13 61116244 61116244 single base substitution C T intron_variant MELA-AU 13 61116568 61116568 single base substitution C T intron_variant MELA-AU 13 61116683 61116683 single base substitution C T intron_variant MELA-AU 13 61116882 61116882 single base substitution C T intron_variant MELA-AU 13 61116907 61116907 single base substitution C T intron_variant MELA-AU 13 61117356 61117356 single base substitution C T intron_variant MELA-AU 13 61117913 61117913 single base substitution C T intron_variant MELA-AU 13 61118048 61118048 single base substitution C T intron_variant MELA-AU 13 61118252 61118252 single base substitution T G intron_variant MELA-AU 13 61118680 61118680 single base substitution C T intron_variant MELA-AU 13 61119079 61119079 single base substitution A G intron_variant MELA-AU 13 61119129 61119129 single base substitution A C intron_variant MELA-AU 13 61119549 61119549 single base substitution G A intron_variant MELA-AU 13 61120402 61120402 single base substitution C T intron_variant MELA-AU 13 61120930 61120930 single base substitution A T intron_variant MELA-AU 13 61121270 61121270 single base substitution G A intron_variant MELA-AU 13 61121757 61121758 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 61121983 61121983 single base substitution C T intron_variant MELA-AU 13 61122101 61122101 single base substitution C T intron_variant MELA-AU 13 61122146 61122146 single base substitution T C intron_variant MELA-AU 13 61122685 61122685 single base substitution T C intron_variant MELA-AU 13 61122969 61122969 single base substitution A G intron_variant MELA-AU 13 61123174 61123174 single base substitution C T intron_variant MELA-AU 13 61123556 61123556 single base substitution C T intron_variant MELA-AU 13 61123793 61123793 single base substitution C T intron_variant MELA-AU 13 61123880 61123880 single base substitution C T intron_variant MELA-AU 13 61124362 61124362 single base substitution C T intron_variant MELA-AU 13 61124673 61124673 single base substitution G A intron_variant MELA-AU 13 61125566 61125566 single base substitution G A intron_variant MELA-AU 13 61125743 61125743 single base substitution C A intron_variant MELA-AU 13 61125748 61125748 single base substitution T C intron_variant MELA-AU 13 61125754 61125754 single base substitution T G intron_variant MELA-AU 13 61125948 61125948 single base substitution C T intron_variant MELA-AU 13 61126015 61126015 single base substitution C T intron_variant MELA-AU 13 61126249 61126249 single base substitution C T intron_variant MELA-AU 13 61126686 61126686 single base substitution C T intron_variant MELA-AU 13 61126711 61126711 single base substitution A T intron_variant MELA-AU 13 61126769 61126769 single base substitution C T intron_variant MELA-AU 13 61126950 61126950 single base substitution G A intron_variant MELA-AU 13 61127149 61127149 single base substitution C T intron_variant MELA-AU 13 61127379 61127379 single base substitution C T intron_variant MELA-AU 13 61127587 61127587 single base substitution T A intron_variant MELA-AU 13 61128070 61128070 single base substitution T A intron_variant MELA-AU 13 61128113 61128113 single base substitution C T intron_variant MELA-AU 13 61128237 61128237 single base substitution C T intron_variant MELA-AU 13 61128365 61128365 single base substitution C T intron_variant MELA-AU 13 61130307 61130307 single base substitution C T intron_variant MELA-AU 13 61130363 61130363 single base substitution C T intron_variant MELA-AU 13 61131008 61131008 single base substitution C T intron_variant MELA-AU 13 61131136 61131136 single base substitution C T intron_variant MELA-AU 13 61131196 61131196 single base substitution C T intron_variant MELA-AU 13 61131223 61131223 single base substitution C T intron_variant MELA-AU 13 61131482 61131482 single base substitution T A intron_variant MELA-AU 13 61131526 61131526 single base substitution C T intron_variant MELA-AU 13 61131843 61131843 single base substitution C T intron_variant MELA-AU 13 61131948 61131948 single base substitution T C intron_variant MELA-AU 13 61132309 61132309 single base substitution C T intron_variant MELA-AU 13 61132632 61132632 single base substitution T C intron_variant MELA-AU 13 61133101 61133101 single base substitution T A intron_variant MELA-AU 13 61133269 61133269 single base substitution G A intron_variant MELA-AU 13 61133322 61133322 single base substitution G T intron_variant MELA-AU 13 61133538 61133538 single base substitution C T intron_variant MELA-AU 13 61134519 61134519 single base substitution C T intron_variant MELA-AU 13 61135054 61135054 single base substitution C T intron_variant MELA-AU 13 61135752 61135752 single base substitution C T intron_variant MELA-AU 13 61136090 61136090 single base substitution C T intron_variant MELA-AU 13 61136317 61136317 single base substitution C T intron_variant MELA-AU 13 61136453 61136453 single base substitution C T intron_variant MELA-AU 13 61137103 61137103 single base substitution C T intron_variant MELA-AU 13 61137165 61137165 single base substitution C A intron_variant MELA-AU 13 61137749 61137749 single base substitution C T intron_variant MELA-AU 13 61138024 61138024 single base substitution G A intron_variant MELA-AU 13 61138393 61138393 single base substitution C T intron_variant MELA-AU 13 61138944 61138944 single base substitution C T intron_variant MELA-AU 13 61139224 61139224 single base substitution C T intron_variant MELA-AU 13 61139424 61139424 single base substitution C T intron_variant MELA-AU 13 61140070 61140070 single base substitution C T intron_variant MELA-AU 13 61140648 61140648 single base substitution A G intron_variant MELA-AU 13 61140678 61140678 single base substitution C T intron_variant MELA-AU 13 61141115 61141115 single base substitution C T intron_variant MELA-AU 13 61141615 61141615 single base substitution T C intron_variant MELA-AU 13 61141956 61141956 single base substitution C T intron_variant MELA-AU 13 61141974 61141974 single base substitution C T intron_variant MELA-AU 13 61142129 61142129 single base substitution C T intron_variant MELA-AU 13 61142429 61142429 single base substitution C T intron_variant MELA-AU 13 61142604 61142604 single base substitution A C intron_variant MELA-AU 13 61142982 61142982 single base substitution A T intron_variant MELA-AU 13 61143099 61143099 single base substitution C T intron_variant MELA-AU 13 61143102 61143102 single base substitution C T intron_variant MELA-AU 13 61144261 61144261 single base substitution C T intron_variant MELA-AU 13 61144745 61144745 single base substitution C T intron_variant MELA-AU 13 61145252 61145252 single base substitution C T intron_variant MELA-AU 13 61145289 61145289 single base substitution C T intron_variant MELA-AU 13 61145520 61145520 single base substitution A T intron_variant MELA-AU 13 61145700 61145700 single base substitution T C intron_variant MELA-AU 13 61145842 61145842 single base substitution C T intron_variant MELA-AU 13 61145860 61145860 single base substitution C T intron_variant MELA-AU 13 61147729 61147729 single base substitution C T intron_variant MELA-AU 13 61147785 61147785 single base substitution C T 3_prime_UTR_variant MELA-AU 13 61148697 61148697 single base substitution C T downstream_gene_variant MELA-AU 13 61149010 61149010 single base substitution C G downstream_gene_variant MELA-AU 13 61149117 61149117 single base substitution A T downstream_gene_variant MELA-AU 13 61149803 61149803 single base substitution T G downstream_gene_variant MELA-AU 13 61149919 61149919 single base substitution C T downstream_gene_variant MELA-AU 13 61150523 61150523 single base substitution C T downstream_gene_variant MELA-AU 13 61151607 61151607 single base substitution G A downstream_gene_variant ORCA-IN 13 60984876 60984876 single base substitution G C intron_variant ORCA-IN 13 61013407 61013407 single base substitution C A intron_variant ORCA-IN 13 61017347 61017347 single base substitution A G intron_variant ORCA-IN 13 61017347 61017347 single base substitution A G upstream_gene_variant ORCA-IN 13 61065571 61065571 single base substitution G C intron_variant ORCA-IN 13 61083591 61083591 single base substitution A G intron_variant ORCA-IN 13 61102756 61102756 single base substitution A G 3_prime_UTR_variant ORCA-IN 13 61102756 61102756 single base substitution A G missense_variant D373G 1118A>G ORCA-IN 13 61102756 61102756 single base substitution A G missense_variant D466G 1397A>G ORCA-IN 13 61102756 61102756 single base substitution A G upstream_gene_variant ORCA-IN 13 61109239 61109239 single base substitution C T intron_variant ORCA-IN 13 61109239 61109239 single base substitution C T splice_region_variant ORCA-IN 13 61120698 61120698 single base substitution C A intron_variant ORCA-IN 13 61148125 61148125 single base substitution A G downstream_gene_variant OV-AU 13 60969059 60969059 single base substitution T C upstream_gene_variant OV-AU 13 60970380 60970380 single base substitution C A upstream_gene_variant OV-AU 13 60971797 60971797 single base substitution G T intron_variant OV-AU 13 60973596 60973596 single base substitution C G intron_variant OV-AU 13 60977370 60977370 single base substitution C G intron_variant OV-AU 13 60979551 60979551 single base substitution A G intron_variant OV-AU 13 60979622 60979622 single base substitution C T intron_variant OV-AU 13 60986417 60986417 single base substitution C A intron_variant OV-AU 13 60988046 60988046 single base substitution T C intron_variant OV-AU 13 61019744 61019744 single base substitution A T intron_variant OV-AU 13 61020284 61020284 single base substitution A G intron_variant OV-AU 13 61028537 61028537 single base substitution T A intron_variant OV-AU 13 61031447 61031447 single base substitution T C intron_variant OV-AU 13 61032848 61032848 single base substitution C G intron_variant OV-AU 13 61055993 61055993 single base substitution T C intron_variant OV-AU 13 61056794 61056794 single base substitution A G intron_variant OV-AU 13 61056937 61056937 single base substitution C G intron_variant OV-AU 13 61063540 61063540 single base substitution G T downstream_gene_variant OV-AU 13 61063540 61063540 single base substitution G T intron_variant OV-AU 13 61068053 61068053 single base substitution G A intron_variant OV-AU 13 61070564 61070564 single base substitution A T intron_variant OV-AU 13 61070961 61070961 single base substitution G A intron_variant OV-AU 13 61072462 61072462 single base substitution A T intron_variant OV-AU 13 61074883 61074883 single base substitution G C intron_variant OV-AU 13 61080229 61080229 single base substitution T A intron_variant OV-AU 13 61082911 61082911 single base substitution A T intron_variant OV-AU 13 61087821 61087821 single base substitution G C intron_variant OV-AU 13 61089617 61089617 single base substitution T C intron_variant OV-AU 13 61098039 61098039 single base substitution T C intron_variant OV-AU 13 61099243 61099243 single base substitution A C intron_variant OV-AU 13 61099243 61099243 single base substitution A C upstream_gene_variant OV-AU 13 61099456 61099456 single base substitution C T intron_variant OV-AU 13 61099456 61099456 single base substitution C T upstream_gene_variant OV-AU 13 61118375 61118375 single base substitution C T intron_variant OV-AU 13 61138598 61138598 single base substitution G C intron_variant OV-AU 13 61151786 61151786 single base substitution A T downstream_gene_variant PACA-AU 13 60968131 60968131 deletion of <=200bp T - upstream_gene_variant PACA-AU 13 60968723 60968723 single base substitution C T upstream_gene_variant PACA-AU 13 60983797 60983797 insertion of <=200bp - T intron_variant PACA-AU 13 60991155 60991155 single base substitution T C intron_variant PACA-AU 13 60992888 60992888 single base substitution A T intron_variant PACA-AU 13 60995229 60995229 single base substitution T C intron_variant PACA-AU 13 60998049 60998049 single base substitution A C intron_variant PACA-AU 13 61003813 61003813 single base substitution C A intron_variant PACA-AU 13 61003813 61003813 single base substitution C A upstream_gene_variant PACA-AU 13 61018497 61018497 single base substitution T C intron_variant PACA-AU 13 61018497 61018497 single base substitution T C upstream_gene_variant PACA-AU 13 61023067 61023067 single base substitution G T intron_variant PACA-AU 13 61028510 61028510 single base substitution G A intron_variant PACA-AU 13 61031044 61031044 single base substitution G T intron_variant PACA-AU 13 61039904 61039904 single base substitution G A downstream_gene_variant PACA-AU 13 61039904 61039904 single base substitution G A intron_variant PACA-AU 13 61040059 61040059 single base substitution T A downstream_gene_variant PACA-AU 13 61040059 61040059 single base substitution T A intron_variant PACA-AU 13 61042315 61042315 single base substitution G A intron_variant PACA-AU 13 61054677 61054677 single base substitution G A intron_variant PACA-AU 13 61060364 61060364 single base substitution C A downstream_gene_variant PACA-AU 13 61060364 61060364 single base substitution C A intron_variant PACA-AU 13 61071653 61071653 single base substitution C T intron_variant PACA-AU 13 61074512 61074512 single base substitution C T intron_variant PACA-AU 13 61076413 61076413 single base substitution A C intron_variant PACA-AU 13 61076941 61076941 single base substitution G C intron_variant PACA-AU 13 61078027 61078027 single base substitution C T intron_variant PACA-AU 13 61081946 61081946 single base substitution A T intron_variant PACA-AU 13 61085995 61085995 single base substitution C T intron_variant PACA-AU 13 61103661 61103661 single base substitution T C downstream_gene_variant PACA-AU 13 61103661 61103661 single base substitution T C intron_variant PACA-AU 13 61108022 61108022 single base substitution G A intron_variant PACA-AU 13 61108824 61108824 single base substitution C T intron_variant PACA-AU 13 61110087 61110087 single base substitution C T downstream_gene_variant PACA-AU 13 61110087 61110087 single base substitution C T intron_variant PACA-AU 13 61116300 61116300 single base substitution T C intron_variant PACA-AU 13 61116356 61116356 single base substitution T C intron_variant PACA-AU 13 61123702 61123702 single base substitution T G intron_variant PACA-AU 13 61124473 61124473 single base substitution G A intron_variant PACA-AU 13 61126435 61126435 single base substitution C T intron_variant PACA-AU 13 61134473 61134473 single base substitution T C intron_variant PACA-AU 13 61139764 61139764 single base substitution A T intron_variant PACA-AU 13 61141352 61141352 single base substitution G T intron_variant PACA-AU 13 61145884 61145884 single base substitution T C intron_variant PACA-CA 13 60965640 60965640 single base substitution C T upstream_gene_variant PACA-CA 13 60971761 60971787 deletion of <=200bp CGGGCGGCGGGCCTGGGCCCCGGGCGG - intron_variant PACA-CA 13 60974575 60974575 deletion of <=200bp T - intron_variant PACA-CA 13 60974955 60974955 single base substitution C G intron_variant PACA-CA 13 60976133 60976133 single base substitution A G intron_variant PACA-CA 13 60985228 60985228 single base substitution T C intron_variant PACA-CA 13 60994802 60994802 single base substitution C T intron_variant PACA-CA 13 60998860 60998860 single base substitution C T intron_variant PACA-CA 13 60999193 60999193 single base substitution G A intron_variant PACA-CA 13 61001646 61001646 single base substitution G A intron_variant PACA-CA 13 61007165 61007165 insertion of <=200bp - T intron_variant PACA-CA 13 61007165 61007165 insertion of <=200bp - T upstream_gene_variant PACA-CA 13 61012868 61012868 single base substitution G T intron_variant PACA-CA 13 61014167 61014167 insertion of <=200bp - T intron_variant PACA-CA 13 61014167 61014167 insertion of <=200bp - T upstream_gene_variant PACA-CA 13 61019206 61019206 single base substitution C T intron_variant PACA-CA 13 61023208 61023208 single base substitution C G intron_variant PACA-CA 13 61023788 61023788 single base substitution G A intron_variant PACA-CA 13 61024336 61024336 single base substitution C T intron_variant PACA-CA 13 61029883 61029883 single base substitution T C intron_variant PACA-CA 13 61030397 61030397 single base substitution A G intron_variant PACA-CA 13 61031964 61031964 single base substitution A C intron_variant PACA-CA 13 61033155 61033155 deletion of <=200bp T - intron_variant PACA-CA 13 61035638 61035638 single base substitution C G downstream_gene_variant PACA-CA 13 61035638 61035638 single base substitution C G intron_variant PACA-CA 13 61045945 61045945 single base substitution T C intron_variant PACA-CA 13 61046948 61046948 single base substitution G A intron_variant PACA-CA 13 61049163 61049163 deletion of <=200bp T - intron_variant PACA-CA 13 61055738 61055738 single base substitution T A intron_variant PACA-CA 13 61055793 61055793 single base substitution A G intron_variant PACA-CA 13 61062019 61062019 single base substitution C A downstream_gene_variant PACA-CA 13 61062019 61062019 single base substitution C A intron_variant PACA-CA 13 61063700 61063700 deletion of <=200bp C - downstream_gene_variant PACA-CA 13 61063700 61063700 deletion of <=200bp C - intron_variant PACA-CA 13 61063713 61063713 single base substitution C T downstream_gene_variant PACA-CA 13 61063713 61063713 single base substitution C T intron_variant PACA-CA 13 61063717 61063717 single base substitution G C downstream_gene_variant PACA-CA 13 61063717 61063717 single base substitution G C intron_variant PACA-CA 13 61067963 61067963 single base substitution C T intron_variant PACA-CA 13 61072403 61072403 single base substitution C T intron_variant PACA-CA 13 61078272 61078272 single base substitution G T intron_variant PACA-CA 13 61082317 61082317 single base substitution G A intron_variant PACA-CA 13 61089721 61089721 single base substitution T C intron_variant PACA-CA 13 61098878 61098878 single base substitution T C intron_variant PACA-CA 13 61098878 61098878 single base substitution T C upstream_gene_variant PACA-CA 13 61100101 61100101 insertion of <=200bp - T intron_variant PACA-CA 13 61100101 61100101 insertion of <=200bp - T upstream_gene_variant PACA-CA 13 61104608 61104608 single base substitution C A downstream_gene_variant PACA-CA 13 61104608 61104608 single base substitution C A intron_variant PACA-CA 13 61105965 61105965 deletion of <=200bp A - downstream_gene_variant PACA-CA 13 61105965 61105965 deletion of <=200bp A - intron_variant PACA-CA 13 61106631 61106631 insertion of <=200bp - T downstream_gene_variant PACA-CA 13 61106631 61106631 insertion of <=200bp - T intron_variant PACA-CA 13 61107700 61107700 single base substitution G A downstream_gene_variant PACA-CA 13 61107700 61107700 single base substitution G A intron_variant PACA-CA 13 61109949 61109949 single base substitution G C downstream_gene_variant PACA-CA 13 61109949 61109949 single base substitution G C intron_variant PACA-CA 13 61111009 61111009 single base substitution A G downstream_gene_variant PACA-CA 13 61111009 61111009 single base substitution A G intron_variant PACA-CA 13 61116230 61116230 single base substitution G T intron_variant PACA-CA 13 61116420 61116420 single base substitution G T intron_variant PACA-CA 13 61129559 61129559 single base substitution A G intron_variant PACA-CA 13 61130422 61130422 single base substitution T C intron_variant PACA-CA 13 61131533 61131533 single base substitution G A intron_variant PACA-CA 13 61135993 61135993 insertion of <=200bp - TTT intron_variant PACA-CA 13 61139314 61139314 single base substitution C T intron_variant PACA-CA 13 61143090 61143090 deletion of <=200bp T - intron_variant PACA-CA 13 61143966 61143966 single base substitution C G intron_variant PACA-CA 13 61145311 61145311 single base substitution A G intron_variant PACA-CA 13 61145560 61145560 single base substitution C T intron_variant PACA-CA 13 61148264 61148264 single base substitution C G downstream_gene_variant PACA-CA 13 61150941 61150941 single base substitution T A downstream_gene_variant PACA-CA 13 61151807 61151807 single base substitution C T downstream_gene_variant PAEN-AU 13 60986417 60986417 single base substitution C G intron_variant PAEN-AU 13 60995492 60995492 single base substitution T G intron_variant PAEN-AU 13 61047884 61047884 single base substitution G T intron_variant PAEN-AU 13 61059246 61059246 single base substitution C G intron_variant PAEN-AU 13 61071960 61071960 single base substitution T C intron_variant PAEN-IT 13 61035886 61035886 single base substitution C A downstream_gene_variant PAEN-IT 13 61035886 61035886 single base substitution C A intron_variant PAEN-IT 13 61071323 61071323 single base substitution G A intron_variant PAEN-IT 13 61086788 61086788 single base substitution G T intron_variant PAEN-IT 13 61132644 61132644 single base substitution A C intron_variant PAEN-IT 13 61150236 61150236 single base substitution G A downstream_gene_variant PBCA-DE 13 60968175 60968175 single base substitution C T upstream_gene_variant PBCA-DE 13 60969324 60969324 single base substitution T C upstream_gene_variant PBCA-DE 13 60977847 60977847 single base substitution A G intron_variant PBCA-DE 13 60988303 60988303 insertion of <=200bp - T intron_variant PBCA-DE 13 60988890 60988890 single base substitution C T intron_variant PBCA-DE 13 60989781 60989781 single base substitution A G intron_variant PBCA-DE 13 60993343 60993343 single base substitution A G intron_variant PBCA-DE 13 61003937 61003937 single base substitution A T intron_variant PBCA-DE 13 61003937 61003937 single base substitution A T upstream_gene_variant PBCA-DE 13 61008404 61008404 single base substitution G T intron_variant PBCA-DE 13 61010476 61010476 single base substitution G T intron_variant PBCA-DE 13 61016965 61016965 single base substitution C T intron_variant PBCA-DE 13 61016965 61016965 single base substitution C T upstream_gene_variant PBCA-DE 13 61034487 61034487 single base substitution G A intron_variant PBCA-DE 13 61039376 61039376 single base substitution A T downstream_gene_variant PBCA-DE 13 61039376 61039376 single base substitution A T intron_variant PBCA-DE 13 61041806 61041806 single base substitution C A intron_variant PBCA-DE 13 61048506 61048506 insertion of <=200bp - C intron_variant PBCA-DE 13 61051180 61051180 single base substitution T C intron_variant PBCA-DE 13 61052157 61052157 insertion of <=200bp - T intron_variant PBCA-DE 13 61058809 61058809 deletion of <=200bp T - intron_variant PBCA-DE 13 61062713 61062713 insertion of <=200bp - T downstream_gene_variant PBCA-DE 13 61062713 61062713 insertion of <=200bp - T intron_variant PBCA-DE 13 61072351 61072351 single base substitution A T intron_variant PBCA-DE 13 61077393 61077393 single base substitution C T intron_variant PBCA-DE 13 61077597 61077597 single base substitution T G intron_variant PBCA-DE 13 61077643 61077643 single base substitution C T intron_variant PBCA-DE 13 61078243 61078243 single base substitution T A intron_variant PBCA-DE 13 61097645 61097645 single base substitution A C intron_variant PBCA-DE 13 61100244 61100244 single base substitution A C intron_variant PBCA-DE 13 61100244 61100244 single base substitution A C upstream_gene_variant PBCA-DE 13 61111796 61111796 single base substitution G T downstream_gene_variant PBCA-DE 13 61111796 61111796 single base substitution G T intron_variant PBCA-DE 13 61114559 61114559 single base substitution G T downstream_gene_variant PBCA-DE 13 61114559 61114559 single base substitution G T intron_variant PBCA-DE 13 61124832 61124832 single base substitution G A intron_variant PBCA-DE 13 61125723 61125723 single base substitution C T intron_variant PBCA-DE 13 61129590 61129590 single base substitution G A intron_variant PBCA-DE 13 61130134 61130134 single base substitution G A intron_variant PBCA-DE 13 61135049 61135049 single base substitution T A intron_variant PBCA-DE 13 61135998 61135998 insertion of <=200bp - TTG intron_variant PBCA-DE 13 61139983 61139983 insertion of <=200bp - T intron_variant PBCA-DE 13 61145979 61145979 single base substitution G A intron_variant PBCA-DE 13 61146505 61146505 single base substitution G T intron_variant PBCA-DE 13 61152346 61152346 single base substitution A G downstream_gene_variant PRAD-CA 13 60983340 60983340 single base substitution C A intron_variant PRAD-CA 13 61016296 61016296 single base substitution T G intron_variant PRAD-CA 13 61016296 61016296 single base substitution T G upstream_gene_variant PRAD-CA 13 61018310 61018310 single base substitution A G intron_variant PRAD-CA 13 61018310 61018310 single base substitution A G upstream_gene_variant PRAD-CA 13 61035006 61035006 single base substitution G A exon_variant PRAD-CA 13 61035006 61035006 single base substitution G A intron_variant PRAD-CA 13 61035729 61035729 single base substitution T A downstream_gene_variant PRAD-CA 13 61035729 61035729 single base substitution T A intron_variant PRAD-CA 13 61050136 61050136 single base substitution T C intron_variant PRAD-CA 13 61056474 61056474 single base substitution T G intron_variant PRAD-CA 13 61083037 61083037 single base substitution A G intron_variant PRAD-CA 13 61104946 61104946 single base substitution T C downstream_gene_variant PRAD-CA 13 61104946 61104946 single base substitution T C intron_variant PRAD-CA 13 61112751 61112751 single base substitution A T downstream_gene_variant PRAD-CA 13 61112751 61112751 single base substitution A T intron_variant PRAD-UK 13 60970664 60970664 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 13 60970664 60970664 single base substitution C T upstream_gene_variant PRAD-UK 13 60978251 60978251 single base substitution A G intron_variant PRAD-UK 13 61003465 61003465 single base substitution T A intron_variant PRAD-UK 13 61003465 61003465 single base substitution T A upstream_gene_variant PRAD-UK 13 61007123 61007123 single base substitution A T intron_variant PRAD-UK 13 61007123 61007123 single base substitution A T upstream_gene_variant PRAD-UK 13 61007124 61007124 single base substitution T A intron_variant PRAD-UK 13 61007124 61007124 single base substitution T A upstream_gene_variant PRAD-UK 13 61008956 61008956 single base substitution C G intron_variant PRAD-UK 13 61010588 61010588 single base substitution G T intron_variant PRAD-UK 13 61011920 61011920 single base substitution C T intron_variant PRAD-UK 13 61018721 61018721 single base substitution C T intron_variant PRAD-UK 13 61018721 61018721 single base substitution C T upstream_gene_variant PRAD-UK 13 61027801 61027801 single base substitution C A intron_variant PRAD-UK 13 61062713 61062713 insertion of <=200bp - T downstream_gene_variant PRAD-UK 13 61062713 61062713 insertion of <=200bp - T intron_variant PRAD-UK 13 61073579 61073579 single base substitution A T intron_variant PRAD-UK 13 61077893 61077893 deletion of <=200bp A - intron_variant PRAD-UK 13 61106087 61106087 single base substitution A T downstream_gene_variant PRAD-UK 13 61106087 61106087 single base substitution A T intron_variant PRAD-UK 13 61124177 61124177 single base substitution T C intron_variant PRAD-UK 13 61132593 61132593 single base substitution G T intron_variant READ-US 13 61083960 61083960 single base substitution G A 3_prime_UTR_variant READ-US 13 61083960 61083960 single base substitution G A missense_variant A215T 643G>A READ-US 13 61083960 61083960 single base substitution G A missense_variant A308T 922G>A READ-US 13 61084006 61084006 single base substitution T A 3_prime_UTR_variant READ-US 13 61084006 61084006 single base substitution T A missense_variant L230H 689T>A READ-US 13 61084006 61084006 single base substitution T A missense_variant L323H 968T>A RECA-EU 13 60965952 60965952 single base substitution C G upstream_gene_variant RECA-EU 13 60967609 60967609 single base substitution A C upstream_gene_variant RECA-EU 13 60971278 60971278 single base substitution G A intron_variant RECA-EU 13 60971278 60971278 single base substitution G A upstream_gene_variant RECA-EU 13 60993657 60993657 single base substitution C A intron_variant RECA-EU 13 61015021 61015021 single base substitution G A intron_variant RECA-EU 13 61015021 61015021 single base substitution G A upstream_gene_variant RECA-EU 13 61034135 61034135 single base substitution C G intron_variant RECA-EU 13 61034154 61034154 single base substitution G C intron_variant RECA-EU 13 61040862 61040862 single base substitution C A intron_variant RECA-EU 13 61046929 61046929 single base substitution A C intron_variant RECA-EU 13 61047082 61047082 single base substitution A G intron_variant RECA-EU 13 61062268 61062268 single base substitution G T downstream_gene_variant RECA-EU 13 61062268 61062268 single base substitution G T intron_variant RECA-EU 13 61062420 61062420 single base substitution G C downstream_gene_variant RECA-EU 13 61062420 61062420 single base substitution G C intron_variant RECA-EU 13 61069422 61069422 single base substitution C T intron_variant RECA-EU 13 61071268 61071268 single base substitution G A intron_variant RECA-EU 13 61090123 61090123 single base substitution T G intron_variant RECA-EU 13 61102697 61102697 single base substitution T C 3_prime_UTR_variant RECA-EU 13 61102697 61102697 single base substitution T C synonymous_variant P353P 1059T>C RECA-EU 13 61102697 61102697 single base substitution T C synonymous_variant P446P 1338T>C RECA-EU 13 61102697 61102697 single base substitution T C upstream_gene_variant RECA-EU 13 61113238 61113238 single base substitution T G downstream_gene_variant RECA-EU 13 61113238 61113238 single base substitution T G intron_variant RECA-EU 13 61114551 61114551 single base substitution A T downstream_gene_variant RECA-EU 13 61114551 61114551 single base substitution A T intron_variant RECA-EU 13 61121956 61121956 single base substitution G T intron_variant RECA-EU 13 61124798 61124798 single base substitution A G intron_variant RECA-EU 13 61130367 61130367 single base substitution A T intron_variant RECA-EU 13 61131429 61131429 single base substitution G C intron_variant RECA-EU 13 61133826 61133826 single base substitution A G intron_variant RECA-EU 13 61141991 61141991 single base substitution G A intron_variant SKCA-BR 13 60966735 60966735 single base substitution A G upstream_gene_variant SKCA-BR 13 60968194 60968195 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 13 60968283 60968283 single base substitution G C upstream_gene_variant SKCA-BR 13 60968398 60968398 single base substitution A C upstream_gene_variant SKCA-BR 13 60968501 60968501 insertion of <=200bp - CTT upstream_gene_variant SKCA-BR 13 60968716 60968716 single base substitution G A upstream_gene_variant SKCA-BR 13 60969247 60969247 single base substitution G C upstream_gene_variant SKCA-BR 13 60969306 60969306 single base substitution A T upstream_gene_variant SKCA-BR 13 60971421 60971421 insertion of <=200bp - AG intron_variant SKCA-BR 13 60971421 60971421 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 13 60971834 60971834 single base substitution T G intron_variant SKCA-BR 13 60974826 60974826 single base substitution T C intron_variant SKCA-BR 13 60978336 60978336 single base substitution C T intron_variant SKCA-BR 13 60978763 60978763 single base substitution G A intron_variant SKCA-BR 13 60980261 60980261 single base substitution T C intron_variant SKCA-BR 13 60982329 60982329 single base substitution A C intron_variant SKCA-BR 13 60983668 60983668 single base substitution G A intron_variant SKCA-BR 13 60984077 60984077 single base substitution T A intron_variant SKCA-BR 13 60985016 60985016 single base substitution T G intron_variant SKCA-BR 13 60994785 60994785 single base substitution C T intron_variant SKCA-BR 13 61001574 61001574 single base substitution C T intron_variant SKCA-BR 13 61005817 61005817 single base substitution C A intron_variant SKCA-BR 13 61005817 61005817 single base substitution C A upstream_gene_variant SKCA-BR 13 61011497 61011497 single base substitution T G intron_variant SKCA-BR 13 61018788 61018788 single base substitution C T intron_variant SKCA-BR 13 61018788 61018788 single base substitution C T upstream_gene_variant SKCA-BR 13 61019100 61019100 single base substitution T A intron_variant SKCA-BR 13 61019275 61019275 single base substitution T A intron_variant SKCA-BR 13 61025831 61025831 single base substitution T A intron_variant SKCA-BR 13 61027252 61027252 single base substitution G A intron_variant SKCA-BR 13 61029697 61029697 single base substitution A G intron_variant SKCA-BR 13 61034886 61034886 single base substitution C T exon_variant SKCA-BR 13 61034886 61034886 single base substitution C T intron_variant SKCA-BR 13 61037454 61037454 single base substitution C T downstream_gene_variant SKCA-BR 13 61037454 61037454 single base substitution C T intron_variant SKCA-BR 13 61041613 61041613 single base substitution G A intron_variant SKCA-BR 13 61048066 61048066 single base substitution C T intron_variant SKCA-BR 13 61048384 61048384 single base substitution C T intron_variant SKCA-BR 13 61049815 61049815 single base substitution C T intron_variant SKCA-BR 13 61057757 61057757 single base substitution T C intron_variant SKCA-BR 13 61057916 61057916 single base substitution C T exon_variant SKCA-BR 13 61057916 61057916 single base substitution C T missense_variant S168L 503C>T SKCA-BR 13 61057916 61057916 single base substitution C T missense_variant S75L 224C>T SKCA-BR 13 61058664 61058664 insertion of <=200bp - CGT intron_variant SKCA-BR 13 61070172 61070172 single base substitution C T intron_variant SKCA-BR 13 61074267 61074267 single base substitution G A intron_variant SKCA-BR 13 61076526 61076526 single base substitution C T intron_variant SKCA-BR 13 61077184 61077184 single base substitution C T intron_variant SKCA-BR 13 61080409 61080409 single base substitution C T intron_variant SKCA-BR 13 61083560 61083560 single base substitution C T intron_variant SKCA-BR 13 61084951 61084951 single base substitution T A intron_variant SKCA-BR 13 61089457 61089457 single base substitution C T intron_variant SKCA-BR 13 61098894 61098894 single base substitution C T intron_variant SKCA-BR 13 61098894 61098894 single base substitution C T upstream_gene_variant SKCA-BR 13 61098940 61098940 single base substitution A G intron_variant SKCA-BR 13 61098940 61098940 single base substitution A G upstream_gene_variant SKCA-BR 13 61099220 61099220 insertion of <=200bp - CA intron_variant SKCA-BR 13 61099220 61099220 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 13 61100992 61100992 single base substitution G A intron_variant SKCA-BR 13 61100992 61100992 single base substitution G A upstream_gene_variant SKCA-BR 13 61103766 61103766 single base substitution A G downstream_gene_variant SKCA-BR 13 61103766 61103766 single base substitution A G intron_variant SKCA-BR 13 61104785 61104785 single base substitution C T downstream_gene_variant SKCA-BR 13 61104785 61104785 single base substitution C T intron_variant SKCA-BR 13 61105961 61105961 single base substitution A G downstream_gene_variant SKCA-BR 13 61105961 61105961 single base substitution A G intron_variant SKCA-BR 13 61107712 61107712 single base substitution T G downstream_gene_variant SKCA-BR 13 61107712 61107712 single base substitution T G intron_variant SKCA-BR 13 61115965 61115965 single base substitution A C intron_variant SKCA-BR 13 61116125 61116125 single base substitution T G intron_variant SKCA-BR 13 61116951 61116951 single base substitution A G intron_variant SKCA-BR 13 61116952 61116952 single base substitution A G intron_variant SKCA-BR 13 61118098 61118098 insertion of <=200bp - GT intron_variant SKCA-BR 13 61119742 61119742 single base substitution G C intron_variant SKCA-BR 13 61121922 61121922 single base substitution C T intron_variant SKCA-BR 13 61126770 61126770 single base substitution C T intron_variant SKCA-BR 13 61131340 61131340 insertion of <=200bp - CA intron_variant SKCA-BR 13 61133098 61133099 deletion of <=200bp CT - intron_variant SKCA-BR 13 61139175 61139181 deletion of <=200bp CTTTTTT - intron_variant SKCA-BR 13 61140395 61140395 single base substitution T C intron_variant SKCA-BR 13 61141215 61141215 single base substitution C T intron_variant SKCA-BR 13 61141478 61141478 insertion of <=200bp - TTTTTC intron_variant SKCA-BR 13 61142024 61142026 deletion of <=200bp ATT - intron_variant SKCA-BR 13 61148062 61148062 single base substitution A G downstream_gene_variant SKCA-BR 13 61150781 61150781 single base substitution G C downstream_gene_variant SKCM-US 13 61084023 61084040 deletion of <=200bp CAGAAACCTGTTATGGGT - 3_prime_UTR_variant SKCM-US 13 61084023 61084040 deletion of <=200bp CAGAAACCTGTTATGGGT - inframe_deletion QKPVMG236 SKCM-US 13 61084023 61084040 deletion of <=200bp CAGAAACCTGTTATGGGT - inframe_deletion QKPVMG329 SKCM-US 13 61084778 61084778 single base substitution A T 3_prime_UTR_variant SKCM-US 13 61084778 61084778 single base substitution A T missense_variant R251W 751A>T SKCM-US 13 61084778 61084778 single base substitution A T missense_variant R344W 1030A>T SKCM-US 13 61102641 61102641 single base substitution C T 3_prime_UTR_variant SKCM-US 13 61102641 61102641 single base substitution C T missense_variant R335C 1003C>T SKCM-US 13 61102641 61102641 single base substitution C T missense_variant R428C 1282C>T SKCM-US 13 61102641 61102641 single base substitution C T upstream_gene_variant SKCM-US 13 61102738 61102738 single base substitution C T 3_prime_UTR_variant SKCM-US 13 61102738 61102738 single base substitution C T missense_variant S367F 1100C>T SKCM-US 13 61102738 61102738 single base substitution C T missense_variant S460F 1379C>T SKCM-US 13 61102738 61102738 single base substitution C T upstream_gene_variant SKCM-US 13 61102815 61102815 single base substitution C T 3_prime_UTR_variant SKCM-US 13 61102815 61102815 single base substitution C T missense_variant P393S 1177C>T SKCM-US 13 61102815 61102815 single base substitution C T missense_variant P486S 1456C>T SKCM-US 13 61102815 61102815 single base substitution C T upstream_gene_variant SKCM-US 13 61102816 61102816 single base substitution C T 3_prime_UTR_variant SKCM-US 13 61102816 61102816 single base substitution C T missense_variant P393L 1178C>T SKCM-US 13 61102816 61102816 single base substitution C T missense_variant P486L 1457C>T SKCM-US 13 61102816 61102816 single base substitution C T upstream_gene_variant SKCM-US 13 61102941 61102941 single base substitution T C 3_prime_UTR_variant SKCM-US 13 61102941 61102941 single base substitution T C missense_variant Y435H 1303T>C SKCM-US 13 61102941 61102941 single base substitution T C missense_variant Y528H 1582T>C SKCM-US 13 61102941 61102941 single base substitution T C upstream_gene_variant SKCM-US 13 61103108 61103108 single base substitution C T downstream_gene_variant SKCM-US 13 61103108 61103108 single base substitution C T exon_variant SKCM-US 13 61103108 61103108 single base substitution C T synonymous_variant F490F 1470C>T SKCM-US 13 61103108 61103108 single base substitution C T synonymous_variant F583F 1749C>T STAD-US 13 61041374 61041374 single base substitution T C missense_variant L119P 356T>C STAD-US 13 61041374 61041374 single base substitution T C missense_variant L26P 77T>C STAD-US 13 61041374 61041374 single base substitution T C splice_region_variant STAD-US 13 61068589 61068589 single base substitution T A 3_prime_UTR_variant STAD-US 13 61068589 61068589 single base substitution T A synonymous_variant G153G 459T>A STAD-US 13 61068589 61068589 single base substitution T A synonymous_variant G246G 738T>A STAD-US 13 61084778 61084778 insertion of <=200bp - GG 3_prime_UTR_variant STAD-US 13 61084778 61084778 insertion of <=200bp - GG frameshift_variant R251G? STAD-US 13 61084778 61084778 insertion of <=200bp - GG frameshift_variant R344G? STAD-US 13 61084779 61084779 insertion of <=200bp - GG 3_prime_UTR_variant STAD-US 13 61084779 61084779 insertion of <=200bp - GG frameshift_variant R251R? STAD-US 13 61084779 61084779 insertion of <=200bp - GG frameshift_variant R344R? STAD-US 13 61084866 61084866 single base substitution A T 3_prime_UTR_variant STAD-US 13 61084866 61084866 single base substitution A T missense_variant K280I 839A>T STAD-US 13 61084866 61084866 single base substitution A T missense_variant K373I 1118A>T STAD-US 13 61102603 61102603 single base substitution G A 3_prime_UTR_variant STAD-US 13 61102603 61102603 single base substitution G A missense_variant R322Q 965G>A STAD-US 13 61102603 61102603 single base substitution G A missense_variant R415Q 1244G>A STAD-US 13 61102603 61102603 single base substitution G A upstream_gene_variant STAD-US 13 61102729 61102729 single base substitution C T 3_prime_UTR_variant STAD-US 13 61102729 61102729 single base substitution C T missense_variant S364F 1091C>T STAD-US 13 61102729 61102729 single base substitution C T missense_variant S457F 1370C>T STAD-US 13 61102729 61102729 single base substitution C T upstream_gene_variant STAD-US 13 61102745 61102745 single base substitution A T 3_prime_UTR_variant STAD-US 13 61102745 61102745 single base substitution A T synonymous_variant V369V 1107A>T STAD-US 13 61102745 61102745 single base substitution A T synonymous_variant V462V 1386A>T STAD-US 13 61102745 61102745 single base substitution A T upstream_gene_variant STAD-US 13 61102848 61102848 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 13 61102848 61102848 deletion of <=200bp A - frameshift_variant K404 STAD-US 13 61102848 61102848 deletion of <=200bp A - frameshift_variant K497 STAD-US 13 61102848 61102848 deletion of <=200bp A - upstream_gene_variant STAD-US 13 61102848 61102848 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 13 61102848 61102848 insertion of <=200bp - A frameshift_variant K404K? STAD-US 13 61102848 61102848 insertion of <=200bp - A frameshift_variant K497K? STAD-US 13 61102848 61102848 insertion of <=200bp - A upstream_gene_variant STAD-US 13 61103068 61103068 single base substitution T C downstream_gene_variant STAD-US 13 61103068 61103068 single base substitution T C missense_variant V477A 1430T>C STAD-US 13 61103068 61103068 single base substitution T C missense_variant V570A 1709T>C STAD-US 13 61103068 61103068 single base substitution T C upstream_gene_variant STAD-US 13 61103082 61103082 single base substitution C T downstream_gene_variant STAD-US 13 61103082 61103082 single base substitution C T stop_gained Q482* 1444C>T STAD-US 13 61103082 61103082 single base substitution C T stop_gained Q575* 1723C>T STAD-US 13 61103082 61103082 single base substitution C T upstream_gene_variant STAD-US 13 61103094 61103094 single base substitution C T downstream_gene_variant STAD-US 13 61103094 61103094 single base substitution C T stop_gained R486* 1456C>T STAD-US 13 61103094 61103094 single base substitution C T stop_gained R579* 1735C>T STAD-US 13 61103094 61103094 single base substitution C T upstream_gene_variant STAD-US 13 61103242 61103242 single base substitution C G downstream_gene_variant STAD-US 13 61103242 61103242 single base substitution C G exon_variant STAD-US 13 61103242 61103242 single base substitution C G missense_variant S535C 1604C>G STAD-US 13 61103242 61103242 single base substitution C G missense_variant S628C 1883C>G STAD-US 13 61109249 61109249 deletion of <=200bp G - exon_variant STAD-US 13 61109249 61109249 deletion of <=200bp G - frameshift_variant R574 STAD-US 13 61109249 61109249 deletion of <=200bp G - frameshift_variant R667 THCA-SA 13 61102635 61102635 single base substitution C G 3_prime_UTR_variant THCA-SA 13 61102635 61102635 single base substitution C G missense_variant P333A 997C>G THCA-SA 13 61102635 61102635 single base substitution C G missense_variant P426A 1276C>G THCA-SA 13 61102635 61102635 single base substitution C G upstream_gene_variant UCEC-US 13 61041427 61041427 single base substitution A C exon_variant UCEC-US 13 61041427 61041427 single base substitution A C missense_variant N137H 409A>C UCEC-US 13 61041427 61041427 single base substitution A C missense_variant N44H 130A>C UCEC-US 13 61041458 61041458 single base substitution C T exon_variant UCEC-US 13 61041458 61041458 single base substitution C T missense_variant T147I 440C>T UCEC-US 13 61041458 61041458 single base substitution C T missense_variant T54I 161C>T UCEC-US 13 61068636 61068636 single base substitution G A 3_prime_UTR_variant UCEC-US 13 61068636 61068636 single base substitution G A missense_variant R169Q 506G>A UCEC-US 13 61068636 61068636 single base substitution G A missense_variant R262Q 785G>A UCEC-US 13 61084832 61084832 single base substitution G A 3_prime_UTR_variant UCEC-US 13 61084832 61084832 single base substitution G A missense_variant A269T 805G>A UCEC-US 13 61084832 61084832 single base substitution G A missense_variant A362T 1084G>A UCEC-US 13 61102575 61102575 single base substitution G T 3_prime_UTR_variant UCEC-US 13 61102575 61102575 single base substitution G T missense_variant D313Y 937G>T UCEC-US 13 61102575 61102575 single base substitution G T missense_variant D406Y 1216G>T UCEC-US 13 61102575 61102575 single base substitution G T upstream_gene_variant UCEC-US 13 61102603 61102603 single base substitution G A 3_prime_UTR_variant UCEC-US 13 61102603 61102603 single base substitution G A missense_variant R322Q 965G>A UCEC-US 13 61102603 61102603 single base substitution G A missense_variant R415Q 1244G>A UCEC-US 13 61102603 61102603 single base substitution G A upstream_gene_variant UCEC-US 13 61102642 61102642 single base substitution G A 3_prime_UTR_variant UCEC-US 13 61102642 61102642 single base substitution G A missense_variant R335H 1004G>A UCEC-US 13 61102642 61102642 single base substitution G A missense_variant R428H 1283G>A UCEC-US 13 61102642 61102642 single base substitution G A upstream_gene_variant UCEC-US 13 61102730 61102730 single base substitution T C 3_prime_UTR_variant UCEC-US 13 61102730 61102730 single base substitution T C synonymous_variant S364S 1092T>C UCEC-US 13 61102730 61102730 single base substitution T C synonymous_variant S457S 1371T>C UCEC-US 13 61102730 61102730 single base substitution T C upstream_gene_variant UCEC-US 13 61102733 61102733 single base substitution A G 3_prime_UTR_variant UCEC-US 13 61102733 61102733 single base substitution A G synonymous_variant S365S 1095A>G UCEC-US 13 61102733 61102733 single base substitution A G synonymous_variant S458S 1374A>G UCEC-US 13 61102733 61102733 single base substitution A G upstream_gene_variant UCEC-US 13 61102778 61102778 single base substitution G A 3_prime_UTR_variant UCEC-US 13 61102778 61102778 single base substitution G A synonymous_variant P380P 1140G>A UCEC-US 13 61102778 61102778 single base substitution G A synonymous_variant P473P 1419G>A UCEC-US 13 61102778 61102778 single base substitution G A upstream_gene_variant UCEC-US 13 61102848 61102848 single base substitution A T 3_prime_UTR_variant UCEC-US 13 61102848 61102848 single base substitution A T stop_gained K404* 1210A>T UCEC-US 13 61102848 61102848 single base substitution A T stop_gained K497* 1489A>T UCEC-US 13 61102848 61102848 single base substitution A T upstream_gene_variant UCEC-US 13 61103031 61103031 single base substitution G A downstream_gene_variant UCEC-US 13 61103031 61103031 single base substitution G A missense_variant A465T 1393G>A UCEC-US 13 61103031 61103031 single base substitution G A missense_variant A558T 1672G>A UCEC-US 13 61103031 61103031 single base substitution G A upstream_gene_variant UCEC-US 13 61103046 61103046 single base substitution A C downstream_gene_variant UCEC-US 13 61103046 61103046 single base substitution A C missense_variant K470Q 1408A>C UCEC-US 13 61103046 61103046 single base substitution A C missense_variant K563Q 1687A>C UCEC-US 13 61103046 61103046 single base substitution A C upstream_gene_variant UCEC-US 13 61103155 61103155 single base substitution G A downstream_gene_variant UCEC-US 13 61103155 61103155 single base substitution G A exon_variant UCEC-US 13 61103155 61103155 single base substitution G A missense_variant R506Q 1517G>A UCEC-US 13 61103155 61103155 single base substitution G A missense_variant R599Q 1796G>A UCEC-US 13 61103305 61103305 single base substitution G T downstream_gene_variant UCEC-US 13 61103305 61103305 single base substitution G T exon_variant UCEC-US 13 61103305 61103305 single base substitution G T missense_variant W556L 1667G>T UCEC-US 13 61103305 61103305 single base substitution G T missense_variant W649L 1946G>T UCEC-US 13 61109311 61109311 single base substitution G A exon_variant UCEC-US 13 61109311 61109311 single base substitution G A missense_variant G595R 1783G>A UCEC-US 13 61109311 61109311 single base substitution G A missense_variant G688R 2062G>A UCEC-US 13 61141662 61141662 single base substitution G A missense_variant E615K 1843G>A UCEC-US 13 61141662 61141662 single base substitution G A missense_variant E708K 2122G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand GC8_T COSM147696 c.1943G>A p.R648Q Substitution - Missense 13:60567628-60567628 + YUZEST COSM1706819 c.1081T>C p.S361P Substitution - Missense 13:60510695-60510695 + TCGA-33-4566-01 COSM1646607 c.1255A>G p.R419G Substitution - Missense 13:60528480-60528480 + TCGA-BS-A0UV-01 COSM948231 c.1004G>A p.R335H Substitution - Missense 13:60528508-60528508 + 2011-2314:2012-359-T COSM4606247 c.438+10C>T p.? Unknown 13:60485958-60485958 + TCGA-AD-5900-01 COSM1367549 c.1896G>A p.Q632Q Substitution - coding silent 13:60567581-60567581 + TCGA-D3-A2JG-06 COSM3469420 c.1379C>T p.S460F Substitution - Missense 13:60528604-60528604 + LUAD-YINHD COSM348857 c.1723G>A p.A575T Substitution - Missense 13:60535117-60535117 + TCGA-CA-6717-01 COSM1367543 c.607A>C p.T203P Substitution - Missense 13:60509790-60509790 + TCGA-B8-4622-01 COSM469532 c.1635A>G p.E545E Substitution - coding silent 13:60529139-60529139 + TCGA-BH-A0DH-01 COSM432528 c.608delC p.T203fs*21 Deletion - Frameshift 13:60509791-60509791 + TCGA-22-5477-01 COSM1646608 c.1048G>C p.E350Q Substitution - Missense 13:60510662-60510662 + TCGA-AX-A0J0-01 COSM948230 c.965G>A p.R322Q Substitution - Missense 13:60528469-60528469 + TCGA-AA-A010-01 COSM285640 c.1345A>C p.I449L Substitution - Missense 13:60528849-60528849 + ESCC_BICR_001T COSM5440590 c.184G>A p.E62K Substitution - Missense 13:60467347-60467347 + tumor_4116738 COSM1161090 c.706C>T p.Q236* Substitution - Nonsense 13:60509889-60509889 + TCGA-B5-A11G-01 COSM1587137 c.440C>T p.T147I Substitution - Missense 13:60467324-60467324 + U343 COSM5713242 c.938_940delATA p.N315delN Deletion - In frame 13:60528442-60528444 + TCGA-AZ-6601-01 COSM5142272 c.1896G>A p.K632K Substitution - coding silent 13:60529121-60529121 + TCGA-D1-A15X-01 COSM1587126 c.2062G>A p.G688R Substitution - Missense 13:60535177-60535177 + 1_RESISTANT COSM1720667 c.1470C>T p.F490F Substitution - coding silent 13:60528974-60528974 + H650 COSM1194796 c.743G>A p.G248E Substitution - Missense 13:60510636-60510636 + T98G COSM5713242 c.938_940delATA p.N315delN Deletion - In frame 13:60528442-60528444 + TCGA-FW-A3R5-06 COSM3885454 c.1178C>T p.P393L Substitution - Missense 13:60528682-60528682 + TCGA-AZ-6598-01 COSM5140621 c.1488_1489insA p.R499fs*3 Insertion - Frameshift 13:60528713-60528714 + HCC2998 COSM1677695 c.2227C>T p.R743W Substitution - Missense 13:60567633-60567633 + TCGA-DW-7841-01 COSM3987448 c.1552G>A p.A518T Substitution - Missense 13:60529056-60529056 + CRC-8 COSM304532 c.1049G>A p.S350N Substitution - Missense 13:60528553-60528553 + TCGA-DU-6403-01 COSM3968629 c.1690A>G p.I564V Substitution - Missense 13:60528915-60528915 + B37 COSM1747491 c.1773C>T p.F591F Substitution - coding silent 13:60535167-60535167 + OVCAR-4 COSM1677693 c.1422T>A p.Y474* Substitution - Nonsense 13:60528647-60528647 + HCC2998 COSM1677696 c.1948C>T p.R650W Substitution - Missense 13:60567633-60567633 + T3090 COSM4732899 c.1658_1659insA p.M555fs*7 Insertion - Frameshift 13:60529162-60529163 + CSCC-45-T COSM4529327 c.1322G>A p.G441E Substitution - Missense 13:60528826-60528826 + TCGA-AX-A060-01 COSM1587130 c.1489A>T p.K497* Substitution - Nonsense 13:60528714-60528714 + HCC100 COSM3704692 c.1746T>C p.S582S Substitution - coding silent 13:60528971-60528971 + PD24202a COSM5774307 c.2146C>G p.L716V Substitution - Missense 13:60567552-60567552 + TCGA-AX-A0J0-01 COSM1587133 c.1244G>A p.R415Q Substitution - Missense 13:60528469-60528469 + HN_63058 COSM126963 c.1903C>T p.R635* Substitution - Nonsense 13:60567588-60567588 + C0060T COSM4148896 c.1059T>C p.P353P Substitution - coding silent 13:60528563-60528563 + TCGA-D3-A2JG-06 COSM3469421 c.1100C>T p.S367F Substitution - Missense 13:60528604-60528604 + TCGA-66-2754-01 COSM1646609 c.889G>T p.E297* Substitution - Nonsense 13:60509793-60509793 + TCGA-GL-A59R-01 COSM3987443 c.670G>A p.E224K Substitution - Missense 13:60485901-60485901 + TCGA-BR-8680-01 COSM4048189 c.1709T>C p.V570A Substitution - Missense 13:60528934-60528934 + TCGA-BG-A0LX-01 COSM948232 c.1092T>C p.S364S Substitution - coding silent 13:60528596-60528596 + TCGA-D1-A15X-01 COSM948240 c.1783G>A p.G595R Substitution - Missense 13:60535177-60535177 + MSK-PCa6_organoid COSM5423562 c.1022delA p.N342fs*6 Deletion - Frameshift 13:60528526-60528526 + ESCC-D14 COSM4215754 c.940A>G p.N314D Substitution - Missense 13:60528444-60528444 + U373 COSM5713241 c.1217_1219delATA p.N408delN Deletion - In frame 13:60528442-60528444 + T3021 COSM1943934 c.1489delA p.R499fs*28 Deletion - Frameshift 13:60528714-60528714 + TCGA-A6-5665-01 COSM1367539 c.117T>C p.I39I Substitution - coding silent 13:60439763-60439763 + TCGA-AF-2693-01 COSM1562786 c.689T>A p.L230H Substitution - Missense 13:60509872-60509872 + OSCC-GB_01380111 COSM5953783 c.1993-3C>T p.? Unknown 13:60535105-60535105 + TCGA-A8-A0A6-01 COSM3814008 c.2217A>C p.P739P Substitution - coding silent 13:60567623-60567623 + HCA7 COSM1587132 c.1283G>A p.R428H Substitution - Missense 13:60528508-60528508 + 382 COSM4426584 c.331C>T p.R111* Substitution - Nonsense 13:60485841-60485841 + TCGA-18-3409-01 COSM696356 c.75C>T p.S25S Substitution - coding silent 13:60467238-60467238 + TCGA-BR-A4J1-01 COSM4048191 c.1723C>T p.Q575* Substitution - Nonsense 13:60528948-60528948 + TCGA-DW-7841-01 COSM3987447 c.1831G>A p.A611T Substitution - Missense 13:60529056-60529056 + TCGA-A4-8630-01 COSM3987441 c.304G>A p.G102S Substitution - Missense 13:60460491-60460491 + OSCC-GB_01380111 COSM5953784 c.1714-3C>T p.? Unknown 13:60535105-60535105 + TCGA-AX-A05Z-01 COSM948229 c.937G>T p.D313Y Substitution - Missense 13:60528441-60528441 + TCGA-EI-6917-01 COSM3417674 c.922G>A p.A308T Substitution - Missense 13:60509826-60509826 + TCGA-EE-A3JD-06 COSM4395479 c.1456C>T p.P486S Substitution - Missense 13:60528681-60528681 + TCGA-CA-6718-01 COSM1367547 c.1456C>T p.R486* Substitution - Nonsense 13:60528960-60528960 + TCGA-AZ-4315-01 COSM193124 c.1457G>A p.R486Q Substitution - Missense 13:60528961-60528961 + SNUH_G76_S1 COSM4419036 c.2118+8A>C p.? Unknown 13:60535241-60535241 + SNUH_G76_S1 COSM4418731 c.633A>C p.T211T Substitution - coding silent 13:60485864-60485864 + 12T COSM108511 c.1462A>G p.N488D Substitution - Missense 13:60528966-60528966 + RKO COSM1943966 c.2217A>G p.P739P Substitution - coding silent 13:60567623-60567623 + TCGA-AX-A05Z-01 COSM948238 c.1517G>A p.R506Q Substitution - Missense 13:60529021-60529021 + TCGA-A8-A09Z-01 COSM3814007 c.1574T>A p.I525K Substitution - Missense 13:60529078-60529078 + TCGA-BS-A0UV-01 COSM948236 c.1393G>A p.A465T Substitution - Missense 13:60528897-60528897 + HCA7 COSM948231 c.1004G>A p.R335H Substitution - Missense 13:60528508-60528508 + HCC107T COSM1607179 c.1658C>T p.A553V Substitution - Missense 13:60529162-60529162 + HCC107T COSM1607178 c.1937C>T p.A646V Substitution - Missense 13:60529162-60529162 + TCGA-AP-A056-01 COSM1587134 c.1216G>T p.D406Y Substitution - Missense 13:60528441-60528441 + TCGA-A4-8630-01 COSM3987442 c.25G>A p.G9S Substitution - Missense 13:60460491-60460491 + T2 COSM5342378 c.722G>C p.G241A Substitution - Missense 13:60509905-60509905 + S00935 COSM315856 c.1713G>A p.K571K Substitution - coding silent 13:60529217-60529217 + TCGA-CA-6717-01 COSM5827406 c.886A>C p.T296P Substitution - Missense 13:60509790-60509790 + TCGA-AP-A054-01 COSM1587131 c.1374A>G p.S458S Substitution - coding silent 13:60528599-60528599 + Pat_02_B COSM3469422 c.1582T>C p.Y528H Substitution - Missense 13:60528807-60528807 + TCGA-FS-A1ZA-06 COSM1720667 c.1470C>T p.F490F Substitution - coding silent 13:60528974-60528974 + WT049 COSM5352114 c.387C>T p.L129L Substitution - coding silent 13:60467271-60467271 + TCGA-CA-6718-01 COSM4048193 c.1735C>T p.R579* Substitution - Nonsense 13:60528960-60528960 + Au3 COSM5602411 c.1253C>T p.T418I Substitution - Missense 13:60528478-60528478 + TCGA-BQ-5894-01 COSM3987446 c.1206T>C p.A402A Substitution - coding silent 13:60528710-60528710 + 166 COSM98343 c.688C>G p.L230V Substitution - Missense 13:60509871-60509871 + TCGA-HU-A4GQ-01 COSM4048186 c.1091C>T p.S364F Substitution - Missense 13:60528595-60528595 + TCGA-A6-5661-01 COSM5088816 c.1508T>C p.M503T Substitution - Missense 13:60528733-60528733 + LUAD-CHTN-MAD06-00668 COSM358793 c.485A>G p.N162S Substitution - Missense 13:60494481-60494481 + BCB325T COSM4788516 c.1664T>G p.M555R Substitution - Missense 13:60529168-60529168 + TCGA-HU-A4GQ-01 COSM4048187 c.1386A>T p.V462V Substitution - coding silent 13:60528611-60528611 + BD236T COSM5519220 c.1936G>A p.A646T Substitution - Missense 13:60529161-60529161 + TCGA-AM-5821-01 COSM5713242 c.938_940delATA p.N315delN Deletion - In frame 13:60528442-60528444 + TCGA-AM-5821-01 COSM5713241 c.1217_1219delATA p.N408delN Deletion - In frame 13:60528442-60528444 + JVM-2 COSM1740904 c.1226_1228delATC p.H409delH Deletion - In frame 13:60528451-60528453 + TCGA-FS-A4F8-06 COSM3469422 c.1582T>C p.Y528H Substitution - Missense 13:60528807-60528807 + sysucc-311T COSM5478565 c.332G>A p.R111Q Substitution - Missense 13:60485842-60485842 + TCGA-EB-A44R-06 COSM3469418 c.1030A>T p.R344W Substitution - Missense 13:60510644-60510644 + TCGA-AP-A059-01 COSM1587136 c.785G>A p.R262Q Substitution - Missense 13:60494502-60494502 + HN_62741 COSM129641 c.1292G>C p.G431A Substitution - Missense 13:60528796-60528796 + TCGA-CZ-5468-01 COSM469531 c.922C>T p.Q308* Substitution - Nonsense 13:60528426-60528426 + 382 COSM4426583 c.610C>T p.R204* Substitution - Nonsense 13:60485841-60485841 + LUAD-D01603 COSM337374 c.1299A>C p.V433V Substitution - coding silent 13:60528803-60528803 + TCGA-AX-A05Z-01 COSM1587134 c.1216G>T p.D406Y Substitution - Missense 13:60528441-60528441 + TCGA-HU-A4GN-01 COSM4048182 c.459T>A p.G153G Substitution - coding silent 13:60494455-60494455 + TCGA-CA-6717-01 COSM5827405 c.328G>T p.E110* Substitution - Nonsense 13:60460515-60460515 + CSCC-11-T COSM4460968 c.908C>T p.S303L Substitution - Missense 13:60528412-60528412 + Au1 COSM4900150 c.1003C>T p.R335C Substitution - Missense 13:60528507-60528507 + ESCC-D14 COSM4215753 c.1219A>G p.N407D Substitution - Missense 13:60528444-60528444 + SC_9104 COSM5570209 c.2107A>G p.T703A Substitution - Missense 13:60535222-60535222 + TCGA-AA-A02Y-01 COSM301072 c.1721G>A p.R574Q Substitution - Missense 13:60535115-60535115 + CSCC-27-T COSM4479150 c.229C>T p.R77C Substitution - Missense 13:60460416-60460416 + 2011-2314:2012-359-T COSM4606246 c.717+10C>T p.? Unknown 13:60485958-60485958 + WT049 COSM5352115 c.108C>T p.L36L Substitution - coding silent 13:60467271-60467271 + TCGA-AK-3445-01 COSM3360129 c.1029C>T p.G343G Substitution - coding silent 13:60510643-60510643 + ESCC_BICR_001T COSM5440589 c.463G>A p.E155K Substitution - Missense 13:60467347-60467347 + TCGA-BR-7901-01 COSM4048183 c.1118A>T p.K373I Substitution - Missense 13:60510732-60510732 + Au1 COSM4900149 c.1282C>T p.R428C Substitution - Missense 13:60528507-60528507 + HCC107 COSM1607178 c.1937C>T p.A646V Substitution - Missense 13:60529162-60529162 + 2011-2263:2012-1327-T COSM4605388 c.446C>A p.T149K Substitution - Missense 13:60494442-60494442 + HCC107 COSM1607179 c.1658C>T p.A553V Substitution - Missense 13:60529162-60529162 + 1_PRE-TREATMENT COSM1720666 c.1749C>T p.F583F Substitution - coding silent 13:60528974-60528974 + TCGA-BQ-5894-01 COSM3987445 c.1485T>C p.A495A Substitution - coding silent 13:60528710-60528710 + Gp5D COSM948227 c.506G>A p.R169Q Substitution - Missense 13:60494502-60494502 + TCGA-D5-6535-01 COSM5163547 c.1349G>A p.G450D Substitution - Missense 13:60528574-60528574 + TCGA-CD-8530-01 COSM4048195 c.1604C>G p.S535C Substitution - Missense 13:60529108-60529108 + BD114T COSM5504008 c.1802G>T p.G601V Substitution - Missense 13:60529027-60529027 + BD236T COSM5519221 c.1657G>A p.A553T Substitution - Missense 13:60529161-60529161 + TCGA-HU-A4GN-01 COSM4048181 c.738T>A p.G246G Substitution - coding silent 13:60494455-60494455 + CHC2110Tbis COSM4957707 c.1886G>T p.G629V Substitution - Missense 13:60567571-60567571 + TCGA-A8-A09Z-01 COSM3814006 c.1853T>A p.I618K Substitution - Missense 13:60529078-60529078 + HCC2998 COSM1677695 c.2227C>T p.R743W Substitution - Missense 13:60567633-60567633 + S02255 COSM5680480 c.1781A>G p.Y594C Substitution - Missense 13:60535175-60535175 + 386 COSM4427105 c.884T>C p.I295T Substitution - Missense 13:60509788-60509788 + LN229 COSM5713241 c.1217_1219delATA p.N408delN Deletion - In frame 13:60528442-60528444 + KM12 COSM1943946 c.1901delA p.I636fs*2 Deletion - Frameshift 13:60529126-60529126 + RKO COSM1943967 c.1938A>G p.P646P Substitution - coding silent 13:60567623-60567623 + TCGA-AZ-6598-01 COSM1367545 c.1209_1210insA p.R406fs*3 Insertion - Frameshift 13:60528713-60528714 + TCGA-A8-A0A6-01 COSM3814009 c.1938A>C p.P646P Substitution - coding silent 13:60567623-60567623 + TCGA-18-3409-01 COSM696354 c.76C>T p.L26L Substitution - coding silent 13:60467239-60467239 + SWE-38 COSM1179861 c.1285C>A p.P429T Substitution - Missense 13:60528789-60528789 + ccRCC-102 COSM1664510 c.463G>T p.G155C Substitution - Missense 13:60494459-60494459 + TCGA-AZ-4315-01 COSM3688823 c.1736G>A p.R579Q Substitution - Missense 13:60528961-60528961 + TCGA-BS-A0TC-01 COSM1587128 c.1687A>C p.K563Q Substitution - Missense 13:60528912-60528912 + TCGA-CU-A0YN-01 COSM416329 c.166G>T p.V56F Substitution - Missense 13:60467329-60467329 + PT24_1 COSM4215755 c.1222A>C p.N408H Substitution - Missense 13:60528447-60528447 + RK012_C01 COSM1629153 c.726A>G p.T242T Substitution - coding silent 13:60494443-60494443 + TCGA-18-3409-01 COSM1646610 c.355C>T p.L119L Substitution - coding silent 13:60467239-60467239 + TCGA-AD-6889-01 COSM1367542 c.585T>C p.D195D Substitution - coding silent 13:60509768-60509768 + TCGA-FS-A1ZA-06 COSM1720666 c.1749C>T p.F583F Substitution - coding silent 13:60528974-60528974 + Gp5D COSM1587136 c.785G>A p.R262Q Substitution - Missense 13:60494502-60494502 + TCGA-AX-A05Z-01 COSM1587125 c.2122G>A p.E708K Substitution - Missense 13:60567528-60567528 + 46M COSM5589135 c.1610C>A p.P537Q Substitution - Missense 13:60529114-60529114 + TCGA-BS-A0UF-01 COSM1587135 c.1084G>A p.A362T Substitution - Missense 13:60510698-60510698 + T578 COSM1587136 c.785G>A p.R262Q Substitution - Missense 13:60494502-60494502 + TCGA-AX-A060-01 COSM948235 c.1210A>T p.K404* Substitution - Nonsense 13:60528714-60528714 + S00539 COSM315855 c.345G>T p.L115F Substitution - Missense 13:60485855-60485855 + TCGA-A6-5661-01 COSM948234 c.1140G>A p.P380P Substitution - coding silent 13:60528644-60528644 + TCGA-AK-3445-01 COSM3360130 c.750C>T p.G250G Substitution - coding silent 13:60510643-60510643 + HCC2998 COSM1677696 c.1948C>T p.R650W Substitution - Missense 13:60567633-60567633 + TCGA-GL-A59R-01 COSM3987444 c.391G>A p.E131K Substitution - Missense 13:60485901-60485901 + TCGA-D5-5540-01 COSM5161519 c.752G>C p.R251T Substitution - Missense 13:60494469-60494469 + sysucc-311T COSM4048193 c.1735C>T p.R579* Substitution - Nonsense 13:60528960-60528960 + TCGA-AF-2693-01 COSM5065275 c.968T>A p.L323H Substitution - Missense 13:60509872-60509872 + S0045 COSM5882433 c.1328G>C p.R443T Substitution - Missense 13:60528832-60528832 + SNUH_G76_S1 COSM4418732 c.354A>C p.T118T Substitution - coding silent 13:60485864-60485864 + TCGA-B5-A11G-01 COSM948226 c.161C>T p.T54I Substitution - Missense 13:60467324-60467324 + 386 COSM4427106 c.605T>C p.I202T Substitution - Missense 13:60509788-60509788 + TCGA-GF-A6C9-06 COSM4900149 c.1282C>T p.R428C Substitution - Missense 13:60528507-60528507 + TCGA-A2-A0EY-01 COSM432527 c.267G>A p.P89P Substitution - coding silent 13:60483825-60483825 + SNU-175 COSM1943921 c.952G>A p.A318T Substitution - Missense 13:60509856-60509856 + B37-Tumor COSM1747490 c.2052C>T p.F684F Substitution - coding silent 13:60535167-60535167 + ESCC-D14 COSM4215752 c.939T>A p.D313E Substitution - Missense 13:60528443-60528443 + 587376 COSM348857 c.1723G>A p.A575T Substitution - Missense 13:60535117-60535117 + MSK-PCa6_organoid COSM5423561 c.1301delA p.N435fs*6 Deletion - Frameshift 13:60528526-60528526 + PT24_1 COSM4215756 c.943A>C p.N315H Substitution - Missense 13:60528447-60528447 + SNUH_G76_S1 COSM4419037 c.1839+8A>C p.? Unknown 13:60535241-60535241 + TCGA-B5-A0JY-01 COSM948230 c.965G>A p.R322Q Substitution - Missense 13:60528469-60528469 + TCGA-A8-A09V-01 COSM3814005 c.121C>G p.L41V Substitution - Missense 13:60439767-60439767 + TCGA-BS-A0UV-01 COSM1587132 c.1283G>A p.R428H Substitution - Missense 13:60528508-60528508 + TCGA-33-4566-01 COSM696349 c.976A>G p.R326G Substitution - Missense 13:60528480-60528480 + cSCCP8 COSM140713 c.1122A>C p.R374S Substitution - Missense 13:60528626-60528626 + YUZEST COSM1706820 c.802T>C p.S268P Substitution - Missense 13:60510695-60510695 + ESCC_22 COSM5626357 c.533A>G p.E178G Substitution - Missense 13:60483812-60483812 + TCGA-AX-A0J0-01 COSM948225 c.130A>C p.N44H Substitution - Missense 13:60467293-60467293 + TCGA-24-1849-01 COSM1322837 c.110C>T p.S37L Substitution - Missense 13:60467273-60467273 + TCGA-B5-A0JY-01 COSM1587133 c.1244G>A p.R415Q Substitution - Missense 13:60528469-60528469 + TCGA-BR-4361-01 COSM4048180 c.77T>C p.L26P Substitution - Missense 13:60467240-60467240 + TCGA-CD-8530-01 COSM4048194 c.1883C>G p.S628C Substitution - Missense 13:60529108-60529108 + TCGA-HU-A4GQ-01 COSM4048185 c.1370C>T p.S457F Substitution - Missense 13:60528595-60528595 + SNU-175 COSM1943922 c.673G>A p.A225T Substitution - Missense 13:60509856-60509856 + TCGA-BR-4361-01 COSM4048179 c.356T>C p.L119P Substitution - Missense 13:60467240-60467240 + TCGA-FW-A3R5-06 COSM3885453 c.1457C>T p.P486L Substitution - Missense 13:60528682-60528682 + KM12 COSM1943947 c.1622delA p.I543fs*2 Deletion - Frameshift 13:60529126-60529126 + S02255 COSM5680479 c.2060A>G p.Y687C Substitution - Missense 13:60535175-60535175 + T3079 COSM4732897 c.7C>T p.R3* Substitution - Nonsense 13:60460473-60460473 + BCB325T COSM4788515 c.1943T>G p.M648R Substitution - Missense 13:60529168-60529168 + YUMEZ COSM5376848 c.915G>A p.S305S Substitution - coding silent 13:60509819-60509819 + T3090 COSM4732898 c.1937_1938insA p.M648fs*7 Insertion - Frameshift 13:60529162-60529163 + YUMEZ COSM5376849 c.636G>A p.S212S Substitution - coding silent 13:60509819-60509819 + S00935 COSM5663054 c.1992G>A p.K664K Substitution - coding silent 13:60529217-60529217 + TCGA-18-3409-01 COSM1646611 c.354C>T p.S118S Substitution - coding silent 13:60467238-60467238 + T98G COSM5713241 c.1217_1219delATA p.N408delN Deletion - In frame 13:60528442-60528444 + BD114T COSM5504009 c.1523G>T p.G508V Substitution - Missense 13:60529027-60529027 + LUAD-S01409 COSM346384 c.145T>G p.L49V Substitution - Missense 13:60467308-60467308 + TCGA-DU-6403-01 COSM3968630 c.1411A>G p.I471V Substitution - Missense 13:60528915-60528915 + PD24202a COSM5774308 c.1867C>G p.L623V Substitution - Missense 13:60567552-60567552 + RK012_C01 COSM1629154 c.447A>G p.T149T Substitution - coding silent 13:60494443-60494443 + TCGA-EK-A3GK-01 COSM4853487 c.196G>A p.E66K Substitution - Missense 13:60467359-60467359 + TCGA-BR-8680-01 COSM4048190 c.1430T>C p.V477A Substitution - Missense 13:60528934-60528934 + U343 COSM5713241 c.1217_1219delATA p.N408delN Deletion - In frame 13:60528442-60528444 + TCGA-AX-A05Y-01 COSM948234 c.1140G>A p.P380P Substitution - coding silent 13:60528644-60528644 + TCGA-AX-A0J0-01 COSM1587138 c.409A>C p.N137H Substitution - Missense 13:60467293-60467293 + U373 COSM5713242 c.938_940delATA p.N315delN Deletion - In frame 13:60528442-60528444 + S0045 COSM5882432 c.1607G>C p.R536T Substitution - Missense 13:60528832-60528832 + TCGA-CA-6717-01 COSM1367540 c.49G>T p.E17* Substitution - Nonsense 13:60460515-60460515 + 1_RESISTANT COSM1720666 c.1749C>T p.F583F Substitution - coding silent 13:60528974-60528974 + HCC100T COSM3704693 c.1467T>C p.S489S Substitution - coding silent 13:60528971-60528971 + TCGA-22-5477-01 COSM696350 c.769G>C p.E257Q Substitution - Missense 13:60510662-60510662 + T3021 COSM1943935 c.1210delA p.R406fs*28 Deletion - Frameshift 13:60528714-60528714 + TCGA-BS-A0TC-01 COSM948237 c.1408A>C p.K470Q Substitution - Missense 13:60528912-60528912 + TCGA-AP-A059-01 COSM948227 c.506G>A p.R169Q Substitution - Missense 13:60494502-60494502 + T2 COSM5342377 c.1001G>C p.G334A Substitution - Missense 13:60509905-60509905 + OSCC-GB_00990111 COSM4885825 c.1118A>G p.D373G Substitution - Missense 13:60528622-60528622 + B37 COSM1747490 c.2052C>T p.F684F Substitution - coding silent 13:60535167-60535167 + TCGA-BR-4292-01 COSM1587133 c.1244G>A p.R415Q Substitution - Missense 13:60528469-60528469 + TCGA-DK-A1AD-01 COSM1300265 c.224C>G p.S75* Substitution - Nonsense 13:60483782-60483782 + T578 COSM948227 c.506G>A p.R169Q Substitution - Missense 13:60494502-60494502 + TCGA-BS-A0UF-01 COSM1587133 c.1244G>A p.R415Q Substitution - Missense 13:60528469-60528469 + 46M COSM5589134 c.1889C>A p.P630Q Substitution - Missense 13:60529114-60529114 + S00539 COSM5658731 c.624G>T p.L208F Substitution - Missense 13:60485855-60485855 + TCGA-GF-A6C9-06 COSM4900150 c.1003C>T p.R335C Substitution - Missense 13:60528507-60528507 + TCGA-BS-A0UV-01 COSM1587129 c.1672G>A p.A558T Substitution - Missense 13:60528897-60528897 + TCGA-BR-8680-01 COSM1367547 c.1456C>T p.R486* Substitution - Nonsense 13:60528960-60528960 + Au3 COSM5602412 c.974C>T p.T325I Substitution - Missense 13:60528478-60528478 + C0060T COSM4148895 c.1338T>C p.P446P Substitution - coding silent 13:60528563-60528563 + TCGA-BH-A0DH-01 COSM5215774 c.887delC p.T296fs*21 Deletion - Frameshift 13:60509791-60509791 + JVM-2 COSM1740905 c.947_949delATC p.H316delH Deletion - In frame 13:60528451-60528453 + HCC100 COSM3704693 c.1467T>C p.S489S Substitution - coding silent 13:60528971-60528971 + ESCC-D14 COSM4215751 c.1218T>A p.D406E Substitution - Missense 13:60528443-60528443 + TCGA-FS-A4F8-06 COSM3469423 c.1303T>C p.Y435H Substitution - Missense 13:60528807-60528807 + TCGA-EI-6917-01 COSM3417675 c.643G>A p.A215T Substitution - Missense 13:60509826-60509826 + TCGA-AD-5900-01 COSM5128481 c.2175G>A p.Q725Q Substitution - coding silent 13:60567581-60567581 + 2011-2263:2012-1327-T COSM4605387 c.725C>A p.T242K Substitution - Missense 13:60494442-60494442 + RK144_C01 COSM3744038 c.74+9C>T p.? Unknown 13:60460549-60460549 + CSCC-11-T COSM4460967 c.1187C>T p.S396L Substitution - Missense 13:60528412-60528412 + sysucc-311T COSM1367547 c.1456C>T p.R486* Substitution - Nonsense 13:60528960-60528960 + TCGA-BR-7901-01 COSM4048184 c.839A>T p.K280I Substitution - Missense 13:60510732-60510732 + sysucc-311T COSM5478564 c.611G>A p.R204Q Substitution - Missense 13:60485842-60485842 + TCGA-D5-5540-01 COSM1367541 c.473G>C p.R158T Substitution - Missense 13:60494469-60494469 + ccRCC-102 COSM1664509 c.742G>T p.G248C Substitution - Missense 13:60494459-60494459 + CHC2110Tbis COSM4957707 c.1886G>T p.G629V Substitution - Missense 13:60567571-60567571 + TCGA-14-2554-01 COSM3399427 c.1418A>G p.K473R Substitution - Missense 13:60528922-60528922 + TCGA-BR-A4J1-01 COSM4048192 c.1444C>T p.Q482* Substitution - Nonsense 13:60528948-60528948 + 166 COSM98343 c.688C>G p.L230V Substitution - Missense 13:60509871-60509871 + BCB325T COSM4788515 c.1943T>G p.M648R Substitution - Missense 13:60529168-60529168 + LN229 COSM5713242 c.938_940delATA p.N315delN Deletion - In frame 13:60528442-60528444 + S00539 COSM315855 c.345G>T p.L115F Substitution - Missense 13:60485855-60485855 + TCGA-HU-A4GQ-01 COSM4048188 c.1107A>T p.V369V Substitution - coding silent 13:60528611-60528611 + B37-Tumor COSM1747491 c.1773C>T p.F591F Substitution - coding silent 13:60535167-60535167 + SC_9104 COSM5570210 c.1828A>G p.T610A Substitution - Missense 13:60535222-60535222 + TCGA-AD-6889-01 COSM5129427 c.864T>C p.D288D Substitution - coding silent 13:60509768-60509768 + TCGA-14-2554-01 COSM3399426 c.1697A>G p.K566R Substitution - Missense 13:60528922-60528922 + TCGA-AX-A05Z-01 COSM1587127 c.1796G>A p.R599Q Substitution - Missense 13:60529021-60529021 + TCGA-AX-A05Z-01 COSM948241 c.1843G>A p.E615K Substitution - Missense 13:60567528-60567528 + NB-0997 COSM1288404 c.173G>T p.G58V Substitution - Missense 13:60467336-60467336 + S00935 COSM315856 c.1713G>A p.K571K Substitution - coding silent 13:60529217-60529217 + CHC2110Tbis COSM4957706 c.2165G>T p.G722V Substitution - Missense 13:60567571-60567571 + LS411 COSM1943901 c.208_209insT p.L71fs*15 Insertion - Frameshift 13:60460395-60460396 + CSCC-45-T COSM4529326 c.1601G>A p.G534E Substitution - Missense 13:60528826-60528826 + T3079 COSM4732896 c.286C>T p.R96* Substitution - Nonsense 13:60460473-60460473 + TCGA-BS-A0UF-01 COSM948230 c.965G>A p.R322Q Substitution - Missense 13:60528469-60528469 + TCGA-A2-A0EY-01 COSM5194822 c.546G>A p.P182P Substitution - coding silent 13:60483825-60483825 + RK144_C01 COSM3744037 c.353+9C>T p.? Unknown 13:60460549-60460549 + TCGA-A6-5661-01 COSM1367546 c.1229T>C p.M410T Substitution - Missense 13:60528733-60528733 + TCGA-AP-A054-01 COSM948233 c.1095A>G p.S365S Substitution - coding silent 13:60528599-60528599 + TCGA-AP-A056-01 COSM948229 c.937G>T p.D313Y Substitution - Missense 13:60528441-60528441 + TCGA-BR-8680-01 COSM4048193 c.1735C>T p.R579* Substitution - Nonsense 13:60528960-60528960 + HCC100T COSM3704692 c.1746T>C p.S582S Substitution - coding silent 13:60528971-60528971 + TCGA-EE-A3JD-06 COSM4395480 c.1177C>T p.P393S Substitution - Missense 13:60528681-60528681 + OSCC-GB_00990111 COSM4885824 c.1397A>G p.D466G Substitution - Missense 13:60528622-60528622 + TCGA-EB-A44R-06 COSM3469419 c.751A>T p.R251W Substitution - Missense 13:60510644-60510644 + BCB325T COSM4788516 c.1664T>G p.M555R Substitution - Missense 13:60529168-60529168 + ESCC_22 COSM5626358 c.254A>G p.E85G Substitution - Missense 13:60483812-60483812 + TCGA-D5-6535-01 COSM1367544 c.1070G>A p.G357D Substitution - Missense 13:60528574-60528574 + CSCC-11-T COSM4475045 c.195C>T p.L65L Substitution - coding silent 13:60460382-60460382 + P51 COSM328707 c.1446G>T p.Q482H Substitution - Missense 13:60528950-60528950 + TCGA-BR-4292-01 COSM948230 c.965G>A p.R322Q Substitution - Missense 13:60528469-60528469 + TCGA-A6-5661-01 COSM5088815 c.1419G>A p.P473P Substitution - coding silent 13:60528644-60528644 + TCGA-66-2754-01 COSM696351 c.610G>T p.E204* Substitution - Nonsense 13:60509793-60509793 + 166 COSM3723826 c.967C>G p.L323V Substitution - Missense 13:60509871-60509871 + TCGA-BS-A0UF-01 COSM948228 c.805G>A p.A269T Substitution - Missense 13:60510698-60510698 + OVCAR-4 COSM1677694 c.1143T>A p.Y381* Substitution - Nonsense 13:60528647-60528647 + CHC2110Tbis COSM4957706 c.2165G>T p.G722V Substitution - Missense 13:60567571-60567571 + Pat_02_B COSM3469423 c.1303T>C p.Y435H Substitution - Missense 13:60528807-60528807 + 1_PRE-TREATMENT COSM1720667 c.1470C>T p.F490F Substitution - coding silent 13:60528974-60528974 + TCGA-B5-A0K8-01 COSM948239 c.1667G>T p.W556L Substitution - Missense 13:60529171-60529171 + TCGA-AZ-6601-01 COSM1367548 c.1617G>A p.K539K Substitution - coding silent 13:60529121-60529121 + TCGA-EK-A3GK-01 COSM4853486 c.475G>A p.E159K Substitution - Missense 13:60467359-60467359 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.525058;Hs.525061 13q21.2 614392

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K563Q c.1687A>C 13 61103046 UCEC A G Missense p.H194R c.581A>G 13 61059946 LUAD A G Missense p.I564V c.1690A>G 13 61103049 LGG A G Missense p.K566R c.1697A>G 13 61103056 GBM A G Synonymous p.E638E c.1914A>G 13 61103273 RCCC A G Synonymous p.S458S c.1374A>G 13 61102733 UCEC A G Synonymous p.T242T c.726A>G 13 61068577 HC A T Nonsense p.K497* c.1489A>T 13 61102848 UCEC CAGAAACCTGTTATGGGT - InFrameDeletion p.Q329_G334delQKPVMG c.986_1003delAGAAACCTGTTATGGGTC 13 61084023 CM C G Missense p.L323V c.967C>G 13 61084005 HNSC C G Nonsense p.S168* c.503C>G 13 61057916 BLCA C T Missense p.P486S c.1456C>T 13 61102815 CM C T Missense p.P522S c.1564C>T 13 61102923 LUAD C T Missense p.S460F c.1379C>T 13 61102738 CM C T Missense p.T147I c.440C>T 13 61041458 UCEC C T Nonsense p.Q329* c.985C>T 13 61084023 DLBCL C T Nonsense p.R728* c.2182C>T 13 61141722 HNSC C T Synonymous p.F583F c.1749C>T 13 61103108 CM C T Synonymous p.G343G c.1029C>T 13 61084777 RCCC C T Synonymous p.L292L c.874C>T 13 61083912 BRCA C T Synonymous p.S433S c.1299C>T 13 61102658 CM G A Missense p.D288N c.862G>A 13 61083900 LUAD G A Missense p.E297K c.889G>A 13 61083927 CM G A Missense p.E297K c.889G>A 13 61083927 LUAD G A Missense p.M678I c.2034G>A 13 61109283 COREAD G A Missense p.R415Q c.1244G>A 13 61102603 STAD G A Missense p.R667Q c.2000G>A 13 61109249 COREAD G A Synonymous p.E644E c.1932G>A 13 61103291 CM G A Synonymous p.K664K c.1992G>A 13 61103351 SCLC G A Synonymous p.P182P c.546G>A 13 61057959 BRCA G A Synonymous p.P473P c.1419G>A 13 61102778 UCEC G C Missense p.E350Q c.1048G>C 13 61084796 LUSC G C Missense p.G524A c.1571G>C 13 61102930 HNSC G T 3-UTRSNV . c.2232+6210G>T 13 61147982 HC G T Missense p.G151V c.452G>T 13 61041470 NB G T Missense p.G246V c.737G>T 13 61068588 LUAD G T Missense p.L208F c.624G>T 13 61059989 SCLC G T Missense p.R348I c.1043G>T 13 61084791 LUAD G T Missense p.V149F c.445G>T 13 61041463 BLCA G T Missense p.W649L c.1946G>T 13 61103305 UCEC G T Nonsense p.E297* c.889G>T 13 61083927 LUSC G T Synonymous p.P182P c.546G>T 13 61057959 LUAD T A IntronicSNV . c.2118+144T>A 13 61109511 HC T C IntronicSNV . c.2118+105T>C 13 61109472 CM T C Synonymous p.S457S c.1371T>C 13 61102730 UCEC - TGGAGA IntronicInsertion . c.496-5455_496-5454insTGGAGA 13 61052454 CLL T G Missense p.S272A c.814T>G 13 61068665 HNSC