Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 45783864 45783864 + Missense_Mutation SNP C C A TCGA-OR-A5L1-01A-11D-A30A-10 TCGA-OR-A5L1-10A-01D-A30A-10 g.chr19:45783864C>A c.1148C>A c.(1147-1149)gCc>gAc p.A383D ACC 19 45801154 45801154 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr19:45801154G>T c.1819G>T c.(1819-1821)Ggg>Tgg p.G607W BLCA 19 45767943 45767943 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr19:45767943G>A c.357G>A c.(355-357)gtG>gtA p.V119V BLCA 19 45767973 45767973 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr19:45767973G>A c.387G>A c.(385-387)aaG>aaA p.K129K BLCA 19 45774817 45774817 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr19:45774817G>C c.637G>C c.(637-639)Gac>Cac p.D213H BLCA 19 45774876 45774876 + Nonsense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr19:45774876C>G c.696C>G c.(694-696)taC>taG p.Y232* BLCA 19 45781258 45781258 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:45781258G>A c.864G>A c.(862-864)cgG>cgA p.R288R BLCA 19 45783636 45783636 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 g.chr19:45783636G>A c.1011G>A c.(1009-1011)gtG>gtA p.V337V BLCA 19 45783664 45783664 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr19:45783664G>A c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K BLCA 19 45783673 45783673 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr19:45783673G>C c.1048G>C c.(1048-1050)Gag>Cag p.E350Q BLCA 19 45790754 45790754 + Frame_Shift_Del DEL G G - TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr19:45790754delG c.1326delG c.(1324-1326)acgfs p.T442fs BLCA 19 45790773 45790773 + Nonsense_Mutation SNP G G T TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr19:45790773G>T c.1345G>T c.(1345-1347)Gag>Tag p.E449* BRCA 19 45762346 45762346 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr19:45762346G>A c.151G>A c.(151-153)Gag>Aag p.E51K BRCA 19 45801476 45801476 + Intron SNP G G T TCGA-E9-A5FL-01A-11D-A27P-09 TCGA-E9-A5FL-10A-01D-A27P-09 g.chr19:45801476G>T CESC 19 45801453 45801453 + Intron SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr19:45801453G>A CHOL 19 45774944 45774944 + Missense_Mutation SNP C C T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr19:45774944C>T c.764C>T c.(763-765)cCc>cTc p.P255L CHOL 19 45790748 45790748 + Silent SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr19:45790748G>T c.1320G>T c.(1318-1320)acG>acT p.T440T COAD 19 45754854 45754854 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr19:45754854C>T c.8C>T c.(7-9)tCg>tTg p.S3L COAD 19 45766421 45766421 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:45766421G>A c.303G>A c.(301-303)caG>caA p.Q101Q COAD 19 45769490 45769490 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:45769490C>T c.500C>T c.(499-501)tCg>tTg p.S167L COAD 19 45774834 45774834 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:45774834delC c.654delC c.(652-654)agcfs p.S218fs COAD 19 45774884 45774884 + Missense_Mutation SNP C C T TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr19:45774884C>T c.704C>T c.(703-705)cCg>cTg p.P235L COAD 19 45781285 45781285 + Silent SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:45781285A>G c.891A>G c.(889-891)aaA>aaG p.K297K COAD 19 45783969 45783969 + Missense_Mutation SNP G G A TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr19:45783969G>A c.1253G>A c.(1252-1254)cGc>cAc p.R418H COAD 19 45783970 45783970 + Silent SNP C C T TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr19:45783970C>T c.1254C>T c.(1252-1254)cgC>cgT p.R418R COAD 19 45783978 45783978 + Missense_Mutation SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr19:45783978G>T c.1262G>T c.(1261-1263)aGg>aTg p.R421M COAD 19 45790753 45790753 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr19:45790753C>T c.1325C>T c.(1324-1326)aCg>aTg p.T442M COAD 19 45790780 45790780 + Missense_Mutation SNP G G A TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr19:45790780G>A c.1352G>A c.(1351-1353)cGg>cAg p.R451Q COAD 19 45797675 45797675 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:45797675G>T c.1563G>T c.(1561-1563)gaG>gaT p.E521D COAD 19 45801031 45801031 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:45801031C>T c.1696C>T c.(1696-1698)Cgc>Tgc p.R566C COAD 19 45801166 45801166 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr19:45801166C>A c.1831C>A c.(1831-1833)Ccc>Acc p.P611T COAD 19 45805664 45805664 + Frame_Shift_Del DEL C C - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:45805664delC c.1955delC c.(1954-1956)gccfs p.A652fs COADREAD 19 45754854 45754854 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr19:45754854C>T c.8C>T c.(7-9)tCg>tTg p.S3L COADREAD 19 45766421 45766421 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:45766421G>A c.303G>A c.(301-303)caG>caA p.Q101Q COADREAD 19 45769490 45769490 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:45769490C>T c.500C>T c.(499-501)tCg>tTg p.S167L COADREAD 19 45774834 45774834 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:45774834delC c.654delC c.(652-654)agcfs p.S218fs COADREAD 19 45774884 45774884 + Missense_Mutation SNP C C T TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr19:45774884C>T c.704C>T c.(703-705)cCg>cTg p.P235L COADREAD 19 45781285 45781285 + Silent SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:45781285A>G c.891A>G c.(889-891)aaA>aaG p.K297K COADREAD 19 45783945 45783945 + Missense_Mutation SNP G G A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr19:45783945G>A c.1229G>A c.(1228-1230)cGg>cAg p.R410Q COADREAD 19 45783968 45783968 + Missense_Mutation SNP C C A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr19:45783968C>A c.1252C>A c.(1252-1254)Cgc>Agc p.R418S COADREAD 19 45783969 45783969 + Missense_Mutation SNP G G A TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr19:45783969G>A c.1253G>A c.(1252-1254)cGc>cAc p.R418H COADREAD 19 45783970 45783970 + Silent SNP C C T TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr19:45783970C>T c.1254C>T c.(1252-1254)cgC>cgT p.R418R COADREAD 19 45783978 45783978 + Missense_Mutation SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr19:45783978G>T c.1262G>T c.(1261-1263)aGg>aTg p.R421M COADREAD 19 45790753 45790753 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr19:45790753C>T c.1325C>T c.(1324-1326)aCg>aTg p.T442M COADREAD 19 45790780 45790780 + Missense_Mutation SNP G G A TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr19:45790780G>A c.1352G>A c.(1351-1353)cGg>cAg p.R451Q COADREAD 19 45797675 45797675 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:45797675G>T c.1563G>T c.(1561-1563)gaG>gaT p.E521D COADREAD 19 45801031 45801031 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:45801031C>T c.1696C>T c.(1696-1698)Cgc>Tgc p.R566C COADREAD 19 45801166 45801166 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr19:45801166C>A c.1831C>A c.(1831-1833)Ccc>Acc p.P611T COADREAD 19 45805664 45805664 + Frame_Shift_Del DEL C C - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:45805664delC c.1955delC c.(1954-1956)gccfs p.A652fs ESCA 19 45790780 45790780 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr19:45790780G>A c.1352G>A c.(1351-1353)cGg>cAg p.R451Q ESCA 19 45801428 45801428 + Intron SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr19:45801428G>C GBM 19 45774954 45774954 + Silent SNP G G A TCGA-06-0219-01A-01D-1491-08 TCGA-06-0219-10A-01D-1491-08 g.chr19:45774954G>A c.774G>A c.(772-774)ggG>ggA p.G258G GBMLGG 19 45774954 45774954 + Silent SNP G G A TCGA-06-0219-01A-01D-1491-08 TCGA-06-0219-10A-01D-1491-08 g.chr19:45774954G>A c.774G>A c.(772-774)ggG>ggA p.G258G GBMLGG 19 45781872 45781872 + Splice_Site SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:45781872T>C c.1005T>C c.(1003-1005)atT>atC p.I335I HNSC 19 45762300 45762300 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr19:45762300delC c.105delC c.(103-105)agcfs p.S35fs HNSC 19 45762439 45762439 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 g.chr19:45762439G>A c.244G>A c.(244-246)Ggt>Agt p.G82S HNSC 19 45767945 45767945 + Missense_Mutation SNP A A T TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr19:45767945A>T c.359A>T c.(358-360)aAg>aTg p.K120M HNSC 19 45768123 45768123 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 g.chr19:45768123G>A c.447G>A c.(445-447)tcG>tcA p.S149S HNSC 19 45769536 45769536 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr19:45769536G>A c.546G>A c.(544-546)ctG>ctA p.L182L HNSC 19 45774876 45774876 + Silent SNP C C T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr19:45774876C>T c.696C>T c.(694-696)taC>taT p.Y232Y HNSC 19 45774927 45774927 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 g.chr19:45774927C>T c.747C>T c.(745-747)ctC>ctT p.L249L HNSC 19 45783693 45783693 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr19:45783693G>A c.1068G>A c.(1066-1068)aaG>aaA p.K356K HNSC 19 45783855 45783855 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr19:45783855C>T c.1139C>T c.(1138-1140)cCa>cTa p.P380L HNSC 19 45797632 45797632 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chr19:45797632C>T c.1520C>T c.(1519-1521)aCc>aTc p.T507I HNSC 19 45805657 45805657 + Missense_Mutation SNP G G A TCGA-CV-A45V-01A-21D-A25D-08 TCGA-CV-A45V-10A-01D-A25E-08 g.chr19:45805657G>A c.1948G>A c.(1948-1950)Gaa>Aaa p.E650K KIPAN 19 45800968 45800968 + Missense_Mutation SNP T T C TCGA-BP-5187-01A-01D-1429-08 TCGA-BP-5187-11A-01D-1429-08 g.chr19:45800968T>C c.1633T>C c.(1633-1635)Tcc>Ccc p.S545P KIRC 19 45800968 45800968 + Missense_Mutation SNP T T C TCGA-BP-5187-01A-01D-1429-08 TCGA-BP-5187-11A-01D-1429-08 g.chr19:45800968T>C c.1633T>C c.(1633-1635)Tcc>Ccc p.S545P LGG 19 45781872 45781872 + Splice_Site SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:45781872T>C c.1005T>C c.(1003-1005)atT>atC p.I335I LIHC 19 45783689 45783689 + Missense_Mutation SNP A A T TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr19:45783689A>T c.1064A>T c.(1063-1065)cAg>cTg p.Q355L LIHC 19 45790824 45790824 + Missense_Mutation SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr19:45790824A>T c.1396A>T c.(1396-1398)Agt>Tgt p.S466C LIHC 19 45790827 45790827 + Nonsense_Mutation SNP C C T TCGA-ZS-A9CD-01A-11D-A36X-10 TCGA-ZS-A9CD-10A-01D-A370-10 g.chr19:45790827C>T c.1399C>T c.(1399-1401)Cga>Tga p.R467* LIHC 19 45797639 45797639 + Silent SNP A A G TCGA-G3-AAUZ-01A-11D-A382-10 TCGA-G3-AAUZ-10A-01D-A385-10 g.chr19:45797639A>G c.1527A>G c.(1525-1527)agA>agG p.R509R LIHC 19 45801087 45801087 + Silent SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr19:45801087T>C c.1752T>C c.(1750-1752)ggT>ggC p.G584G LUAD 19 45762388 45762388 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr19:45762388A>T c.193A>T c.(193-195)Att>Ttt p.I65F LUAD 19 45766420 45766420 + Missense_Mutation SNP A A C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr19:45766420A>C c.302A>C c.(301-303)cAg>cCg p.Q101P LUAD 19 45769531 45769531 + Missense_Mutation SNP G G A TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr19:45769531G>A c.541G>A c.(541-543)Gac>Aac p.D181N LUAD 19 45774827 45774827 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr19:45774827G>T c.647G>T c.(646-648)tGc>tTc p.C216F LUAD 19 45774834 45774834 + Frame_Shift_Del DEL C C - TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr19:45774834delC c.654delC c.(652-654)agcfs p.S218fs LUAD 19 45781216 45781216 + Silent SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr19:45781216G>T c.822G>T c.(820-822)cgG>cgT p.R274R LUAD 19 45783904 45783904 + Silent SNP A A T TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr19:45783904A>T c.1188A>T c.(1186-1188)ggA>ggT p.G396G LUAD 19 45797646 45797647 + Frame_Shift_Ins INS - - A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 g.chr19:45797646_45797647insA c.1534_1535insA c.(1534-1536)tacfs p.Y512fs LUAD 19 45801106 45801106 + Frame_Shift_Del DEL C C - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr19:45801106delC c.1771delC c.(1771-1773)cccfs p.P592fs LUSC 19 45781203 45781203 + Missense_Mutation SNP G G C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr19:45781203G>C c.809G>C c.(808-810)aGa>aCa p.R270T LUSC 19 45797675 45797675 + Missense_Mutation SNP G G T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr19:45797675G>T c.1563G>T c.(1561-1563)gaG>gaT p.E521D LUSC 19 45803085 45803085 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr19:45803085G>C c.1894G>C c.(1894-1896)Gag>Cag p.E632Q OV 19 45783675 45783675 + Missense_Mutation SNP G G T TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 g.chr19:45783675G>T c.1050G>T c.(1048-1050)gaG>gaT p.E350D OV 19 45783945 45783945 + Missense_Mutation SNP G G A TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr19:45783945G>A c.1229G>A c.(1228-1230)cGg>cAg p.R410Q PAAD 19 45762366 45762366 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45762366C>T c.171C>T c.(169-171)ggC>ggT p.G57G PAAD 19 45774951 45774951 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45774951C>T c.771C>T c.(769-771)gaC>gaT p.D257D PAAD 19 45781209 45781209 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45781209A>C c.815A>C c.(814-816)aAg>aCg p.K272T PAAD 19 45805679 45805679 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45805679G>A c.1970G>A c.(1969-1971)cGa>cAa p.R657Q PCPG 19 45790742 45790742 + Frame_Shift_Del DEL C C - TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 g.chr19:45790742delC c.1314delC c.(1312-1314)agcfs p.S438fs PCPG 19 45797661 45797661 + Missense_Mutation SNP C C T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 g.chr19:45797661C>T c.1549C>T c.(1549-1551)Cgc>Tgc p.R517C PRAD 19 45762287 45762287 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 g.chr19:45762287C>T c.92C>T c.(91-93)cCg>cTg p.P31L PRAD 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr19:45805663_45805664insC c.1954_1955insC c.(1954-1956)gccfs p.A652fs READ 19 45783945 45783945 + Missense_Mutation SNP G G A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr19:45783945G>A c.1229G>A c.(1228-1230)cGg>cAg p.R410Q READ 19 45783968 45783968 + Missense_Mutation SNP C C A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr19:45783968C>A c.1252C>A c.(1252-1254)Cgc>Agc p.R418S SARC 19 45783712 45783712 + Missense_Mutation SNP A A G TCGA-IS-A3K8-01A-11D-A21Q-09 TCGA-IS-A3K8-10A-01D-A21Q-09 g.chr19:45783712A>G c.1087A>G c.(1087-1089)Acc>Gcc p.T363A SARC 19 45801209 45801209 + Missense_Mutation SNP G G A TCGA-DX-A7ET-01A-11D-A36J-09 TCGA-DX-A7ET-10A-01D-A36M-09 g.chr19:45801209G>A c.1874G>A c.(1873-1875)cGa>cAa p.R625Q SKCM 19 45762442 45762442 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr19:45762442C>T c.247C>T c.(247-249)Cgg>Tgg p.R83W SKCM 19 45766591 45766591 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr19:45766591C>T c.321C>T c.(319-321)gtC>gtT p.V107V SKCM 19 45766591 45766591 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr19:45766591C>T c.321C>T c.(319-321)gtC>gtT p.V107V SKCM 19 45767988 45767988 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr19:45767988G>A c.402G>A c.(400-402)gtG>gtA p.V134V SKCM 19 45768113 45768113 + Missense_Mutation SNP A A T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr19:45768113A>T c.437A>T c.(436-438)tAc>tTc p.Y146F SKCM 19 45768122 45768122 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr19:45768122C>T c.446C>T c.(445-447)tCg>tTg p.S149L SKCM 19 45774924 45774924 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr19:45774924C>T c.744C>T c.(742-744)acC>acT p.T248T SKCM 19 45783846 45783846 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr19:45783846G>A c.1130G>A c.(1129-1131)cGg>cAg p.R377Q SKCM 19 45801408 45801408 + Intron SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45801408C>T SKCM 19 45801462 45801462 + Intron SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45801462C>T SKCM 19 45805651 45805651 + Nonsense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr19:45805651C>T c.1942C>T c.(1942-1944)Caa>Taa p.Q648*

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 19 45579448 45579448 single base substitution A C upstream_gene_variant BLCA-CN 19 45579542 45579542 single base substitution G A upstream_gene_variant BLCA-CN 19 45728118 45728118 single base substitution C T intron_variant BLCA-CN 19 45728123 45728123 single base substitution C T intron_variant BLCA-CN 19 45762334 45762334 single base substitution G A 5_prime_UTR_variant BLCA-CN 19 45762334 45762334 single base substitution G A intron_variant BLCA-CN 19 45762334 45762334 single base substitution G A missense_variant A47T 139G>A BLCA-CN 19 45762334 45762334 single base substitution G A upstream_gene_variant BLCA-CN 19 45797673 45797673 single base substitution G T stop_gained E521* 1561G>T BLCA-US 19 45593632 45593632 single base substitution G A intron_variant BLCA-US 19 45655522 45655522 single base substitution G A intron_variant BLCA-US 19 45656023 45656023 single base substitution G A intron_variant BLCA-US 19 45656276 45656276 single base substitution G C intron_variant BLCA-US 19 45656867 45656867 single base substitution G T intron_variant BLCA-US 19 45720793 45720793 single base substitution C T intron_variant BLCA-US 19 45767943 45767943 single base substitution G A intron_variant BLCA-US 19 45767943 45767943 single base substitution G A splice_region_variant BLCA-US 19 45767943 45767943 single base substitution G A upstream_gene_variant BLCA-US 19 45767973 45767973 single base substitution G A exon_variant BLCA-US 19 45767973 45767973 single base substitution G A intron_variant BLCA-US 19 45767973 45767973 single base substitution G A synonymous_variant K129K 387G>A BLCA-US 19 45767973 45767973 single base substitution G A synonymous_variant K20K 60G>A BLCA-US 19 45774817 45774817 single base substitution G C exon_variant BLCA-US 19 45774817 45774817 single base substitution G C missense_variant D213H 637G>C BLCA-US 19 45781258 45781258 single base substitution G A 3_prime_UTR_variant BLCA-US 19 45781258 45781258 single base substitution G A exon_variant BLCA-US 19 45781258 45781258 single base substitution G A intron_variant BLCA-US 19 45781258 45781258 single base substitution G A synonymous_variant R288R 864G>A BLCA-US 19 45781258 45781258 single base substitution G A upstream_gene_variant BLCA-US 19 45783636 45783636 single base substitution G A 3_prime_UTR_variant BLCA-US 19 45783636 45783636 single base substitution G A exon_variant BLCA-US 19 45783636 45783636 single base substitution G A synonymous_variant V337V 1011G>A BLCA-US 19 45805792 45805792 single base substitution C T 3_prime_UTR_variant BLCA-US 19 45805792 45805792 single base substitution C T synonymous_variant L695L 2083C>T BRCA-EU 19 45577982 45577982 single base substitution C T upstream_gene_variant BRCA-EU 19 45578254 45578254 single base substitution C T upstream_gene_variant BRCA-EU 19 45582503 45582503 single base substitution G T upstream_gene_variant BRCA-EU 19 45583021 45583021 single base substitution G A intron_variant BRCA-EU 19 45583058 45583058 single base substitution T G intron_variant BRCA-EU 19 45583170 45583170 single base substitution G T intron_variant BRCA-EU 19 45583410 45583410 single base substitution G T intron_variant BRCA-EU 19 45583825 45583825 single base substitution T A intron_variant BRCA-EU 19 45586105 45586105 single base substitution C T intron_variant BRCA-EU 19 45587148 45587148 single base substitution C T intron_variant BRCA-EU 19 45587724 45587724 single base substitution G C intron_variant BRCA-EU 19 45587926 45587926 single base substitution C T intron_variant BRCA-EU 19 45587968 45587968 single base substitution C T intron_variant BRCA-EU 19 45589508 45589508 single base substitution G C intron_variant BRCA-EU 19 45589626 45589626 single base substitution C T intron_variant BRCA-EU 19 45589698 45589698 single base substitution C G intron_variant BRCA-EU 19 45589959 45589959 single base substitution T C intron_variant BRCA-EU 19 45590486 45590486 single base substitution C T intron_variant BRCA-EU 19 45590653 45590653 single base substitution C T intron_variant BRCA-EU 19 45590756 45590756 single base substitution C G intron_variant BRCA-EU 19 45591631 45591631 single base substitution G C intron_variant BRCA-EU 19 45591643 45591643 single base substitution G A intron_variant BRCA-EU 19 45591769 45591769 single base substitution G A intron_variant BRCA-EU 19 45593612 45593612 single base substitution C T intron_variant BRCA-EU 19 45594224 45594224 single base substitution C T intron_variant BRCA-EU 19 45594246 45594246 single base substitution G T intron_variant BRCA-EU 19 45595520 45595520 single base substitution C T intron_variant BRCA-EU 19 45595533 45595533 single base substitution G A intron_variant BRCA-EU 19 45599970 45599970 single base substitution C T intron_variant BRCA-EU 19 45600230 45600230 single base substitution G A intron_variant BRCA-EU 19 45600264 45600264 single base substitution G C intron_variant BRCA-EU 19 45601657 45601657 single base substitution G C intron_variant BRCA-EU 19 45603413 45603413 single base substitution C A intron_variant BRCA-EU 19 45604389 45604389 single base substitution G A intron_variant BRCA-EU 19 45604679 45604679 single base substitution T G intron_variant BRCA-EU 19 45604965 45604965 single base substitution G T intron_variant BRCA-EU 19 45606750 45606750 single base substitution C G intron_variant BRCA-EU 19 45609082 45609082 single base substitution G T intron_variant BRCA-EU 19 45609384 45609384 single base substitution C T intron_variant BRCA-EU 19 45610566 45610566 deletion of <=200bp A - intron_variant BRCA-EU 19 45611414 45611414 single base substitution T G intron_variant BRCA-EU 19 45611472 45611472 single base substitution T G intron_variant BRCA-EU 19 45613164 45613164 single base substitution C T intron_variant BRCA-EU 19 45613285 45613285 single base substitution G A intron_variant BRCA-EU 19 45613740 45613740 single base substitution C G intron_variant BRCA-EU 19 45614337 45614337 single base substitution C T intron_variant BRCA-EU 19 45614407 45614407 single base substitution C T intron_variant BRCA-EU 19 45614473 45614473 single base substitution G T intron_variant BRCA-EU 19 45615557 45615557 insertion of <=200bp - GGCGTGGGATTACCTTCTGATACATTTCACCTGGAGTGCTGGGATGACG intron_variant BRCA-EU 19 45615573 45615573 single base substitution C A intron_variant BRCA-EU 19 45616881 45616881 single base substitution T C intron_variant BRCA-EU 19 45617142 45617142 single base substitution C T intron_variant BRCA-EU 19 45617604 45617604 single base substitution C T intron_variant BRCA-EU 19 45619107 45619107 single base substitution C G intron_variant BRCA-EU 19 45620749 45620749 single base substitution G A intron_variant BRCA-EU 19 45621201 45621201 single base substitution G T intron_variant BRCA-EU 19 45622486 45622486 single base substitution C T intron_variant BRCA-EU 19 45622621 45622621 single base substitution G C intron_variant BRCA-EU 19 45626028 45626028 single base substitution G T intron_variant BRCA-EU 19 45627919 45627919 single base substitution G C intron_variant BRCA-EU 19 45628748 45628748 single base substitution C T intron_variant BRCA-EU 19 45630151 45630151 single base substitution G A intron_variant BRCA-EU 19 45630867 45630867 single base substitution T A intron_variant BRCA-EU 19 45631373 45631373 single base substitution A T intron_variant BRCA-EU 19 45631601 45631601 single base substitution C A intron_variant BRCA-EU 19 45632453 45632453 single base substitution T C intron_variant BRCA-EU 19 45632799 45632799 single base substitution C G intron_variant BRCA-EU 19 45633411 45633411 single base substitution T G intron_variant BRCA-EU 19 45635766 45635766 single base substitution C T intron_variant BRCA-EU 19 45637883 45637883 single base substitution C A intron_variant BRCA-EU 19 45639714 45639714 single base substitution C A intron_variant BRCA-EU 19 45640824 45640824 single base substitution C T intron_variant BRCA-EU 19 45641070 45641070 single base substitution T C intron_variant BRCA-EU 19 45647810 45647810 single base substitution G T intron_variant BRCA-EU 19 45648837 45648837 single base substitution A T intron_variant BRCA-EU 19 45649261 45649261 single base substitution G A intron_variant BRCA-EU 19 45651955 45651955 single base substitution C T intron_variant BRCA-EU 19 45652998 45652998 single base substitution G C intron_variant BRCA-EU 19 45653251 45653251 single base substitution C T intron_variant BRCA-EU 19 45653844 45653844 single base substitution G A intron_variant BRCA-EU 19 45654689 45654689 single base substitution G A intron_variant BRCA-EU 19 45655346 45655346 single base substitution G T intron_variant BRCA-EU 19 45655499 45655499 single base substitution G A intron_variant BRCA-EU 19 45655642 45655642 single base substitution C T intron_variant BRCA-EU 19 45657241 45657241 single base substitution G A intron_variant BRCA-EU 19 45657251 45657251 single base substitution G A intron_variant BRCA-EU 19 45657321 45657321 single base substitution G T intron_variant BRCA-EU 19 45657323 45657323 single base substitution G A intron_variant BRCA-EU 19 45657705 45657705 single base substitution A T intron_variant BRCA-EU 19 45657779 45657779 single base substitution T G intron_variant BRCA-EU 19 45660274 45660274 single base substitution C G intron_variant BRCA-EU 19 45660342 45660342 single base substitution C T intron_variant BRCA-EU 19 45661382 45661382 single base substitution C T intron_variant BRCA-EU 19 45661629 45661629 single base substitution G C intron_variant BRCA-EU 19 45661835 45661835 single base substitution G C intron_variant BRCA-EU 19 45661857 45661857 single base substitution G C intron_variant BRCA-EU 19 45664043 45664043 single base substitution G A intron_variant BRCA-EU 19 45665643 45665643 single base substitution C T intron_variant BRCA-EU 19 45666244 45666244 single base substitution C T intron_variant BRCA-EU 19 45667244 45667244 single base substitution G A intron_variant BRCA-EU 19 45670936 45670936 single base substitution C A intron_variant BRCA-EU 19 45671695 45671695 single base substitution G A intron_variant BRCA-EU 19 45673271 45673271 single base substitution G A intron_variant BRCA-EU 19 45674547 45674547 single base substitution G A intron_variant BRCA-EU 19 45675222 45675222 single base substitution C G intron_variant BRCA-EU 19 45679397 45679397 single base substitution T C intron_variant BRCA-EU 19 45680564 45680564 single base substitution A C intron_variant BRCA-EU 19 45681554 45681566 deletion of <=200bp GCGTCATGGCGCG - intron_variant BRCA-EU 19 45682165 45682165 single base substitution C T intron_variant BRCA-EU 19 45682655 45682655 single base substitution C A intron_variant BRCA-EU 19 45684709 45684709 single base substitution C T intron_variant BRCA-EU 19 45685053 45685053 single base substitution C T intron_variant BRCA-EU 19 45685838 45685838 single base substitution C G intron_variant BRCA-EU 19 45686446 45686446 single base substitution T A intron_variant BRCA-EU 19 45686553 45686553 single base substitution C T intron_variant BRCA-EU 19 45687171 45687171 single base substitution G A intron_variant BRCA-EU 19 45687580 45687580 single base substitution G A intron_variant BRCA-EU 19 45689074 45689074 single base substitution G A intron_variant BRCA-EU 19 45689220 45689220 single base substitution A G intron_variant BRCA-EU 19 45689328 45689328 single base substitution G A intron_variant BRCA-EU 19 45690568 45690568 single base substitution C T intron_variant BRCA-EU 19 45693579 45693579 single base substitution G C intron_variant BRCA-EU 19 45693824 45693824 single base substitution A G intron_variant BRCA-EU 19 45693997 45693997 single base substitution G A intron_variant BRCA-EU 19 45694505 45694505 single base substitution C T intron_variant BRCA-EU 19 45694949 45694949 single base substitution A C intron_variant BRCA-EU 19 45695955 45695955 single base substitution T C intron_variant BRCA-EU 19 45698478 45698478 single base substitution C T intron_variant BRCA-EU 19 45699585 45699585 single base substitution G T intron_variant BRCA-EU 19 45699990 45699990 single base substitution A T intron_variant BRCA-EU 19 45700454 45700454 single base substitution A T intron_variant BRCA-EU 19 45704150 45704150 single base substitution G A intron_variant BRCA-EU 19 45704862 45704862 single base substitution C G intron_variant BRCA-EU 19 45706026 45706026 single base substitution A T intron_variant BRCA-EU 19 45706485 45706485 single base substitution G A intron_variant BRCA-EU 19 45706946 45706946 single base substitution C G intron_variant BRCA-EU 19 45708141 45708141 single base substitution C G intron_variant BRCA-EU 19 45708561 45708561 deletion of <=200bp T - intron_variant BRCA-EU 19 45708951 45708951 single base substitution A G intron_variant BRCA-EU 19 45710576 45710576 single base substitution A G intron_variant BRCA-EU 19 45711180 45711180 single base substitution A G intron_variant BRCA-EU 19 45711186 45711186 single base substitution G C intron_variant BRCA-EU 19 45712772 45712772 single base substitution C T intron_variant BRCA-EU 19 45713181 45713181 single base substitution G T intron_variant BRCA-EU 19 45714190 45714190 single base substitution G C intron_variant BRCA-EU 19 45715037 45715037 single base substitution T A intron_variant BRCA-EU 19 45715639 45715639 single base substitution A T intron_variant BRCA-EU 19 45716793 45716793 single base substitution C T intron_variant BRCA-EU 19 45717877 45717877 single base substitution C T intron_variant BRCA-EU 19 45720280 45720280 insertion of <=200bp - T intron_variant BRCA-EU 19 45720629 45720629 single base substitution G T intron_variant BRCA-EU 19 45721096 45721096 single base substitution G C intron_variant BRCA-EU 19 45721908 45721908 single base substitution G A intron_variant BRCA-EU 19 45722116 45722116 single base substitution T A intron_variant BRCA-EU 19 45723317 45723317 single base substitution G A intron_variant BRCA-EU 19 45723707 45723707 single base substitution G C intron_variant BRCA-EU 19 45725100 45725100 single base substitution G A intron_variant BRCA-EU 19 45725199 45725199 single base substitution C T intron_variant BRCA-EU 19 45726790 45726790 single base substitution G T intron_variant BRCA-EU 19 45727822 45727822 single base substitution C G intron_variant BRCA-EU 19 45727919 45727919 single base substitution C T intron_variant BRCA-EU 19 45728055 45728055 single base substitution A C intron_variant BRCA-EU 19 45730177 45730177 single base substitution A T intron_variant BRCA-EU 19 45730325 45730325 deletion of <=200bp T - intron_variant BRCA-EU 19 45730920 45730920 single base substitution C T intron_variant BRCA-EU 19 45731800 45731800 single base substitution T A intron_variant BRCA-EU 19 45732157 45732157 single base substitution G A intron_variant BRCA-EU 19 45733745 45733745 single base substitution G A intron_variant BRCA-EU 19 45734572 45734572 single base substitution C T intron_variant BRCA-EU 19 45736043 45736043 single base substitution T C intron_variant BRCA-EU 19 45736299 45736299 single base substitution C A intron_variant BRCA-EU 19 45736812 45736812 single base substitution G A intron_variant BRCA-EU 19 45740328 45740328 single base substitution G T intron_variant BRCA-EU 19 45741767 45741767 single base substitution G T intron_variant BRCA-EU 19 45742636 45742636 single base substitution C T intron_variant BRCA-EU 19 45742928 45742928 single base substitution G A intron_variant BRCA-EU 19 45743854 45743854 single base substitution G C intron_variant BRCA-EU 19 45748162 45748162 single base substitution G A intron_variant BRCA-EU 19 45749419 45749419 single base substitution G C intron_variant BRCA-EU 19 45749996 45749996 single base substitution A T intron_variant BRCA-EU 19 45749996 45749996 single base substitution A T upstream_gene_variant BRCA-EU 19 45750171 45750171 single base substitution A T intron_variant BRCA-EU 19 45750171 45750171 single base substitution A T upstream_gene_variant BRCA-EU 19 45750928 45750928 single base substitution G A intron_variant BRCA-EU 19 45750928 45750928 single base substitution G A upstream_gene_variant BRCA-EU 19 45751915 45751915 single base substitution G A intron_variant BRCA-EU 19 45751915 45751915 single base substitution G A upstream_gene_variant BRCA-EU 19 45754003 45754003 single base substitution G C intron_variant BRCA-EU 19 45754003 45754003 single base substitution G C upstream_gene_variant BRCA-EU 19 45755200 45755200 single base substitution C G intron_variant BRCA-EU 19 45756429 45756429 single base substitution C T intron_variant BRCA-EU 19 45756679 45756679 single base substitution C T intron_variant BRCA-EU 19 45757151 45757151 single base substitution T A intron_variant BRCA-EU 19 45757151 45757151 single base substitution T A upstream_gene_variant BRCA-EU 19 45757863 45757863 single base substitution T G intron_variant BRCA-EU 19 45757863 45757863 single base substitution T G upstream_gene_variant BRCA-EU 19 45758688 45758688 single base substitution G A intron_variant BRCA-EU 19 45758688 45758688 single base substitution G A upstream_gene_variant BRCA-EU 19 45759520 45759520 single base substitution A T intron_variant BRCA-EU 19 45759520 45759520 single base substitution A T upstream_gene_variant BRCA-EU 19 45759552 45759552 single base substitution A G intron_variant BRCA-EU 19 45759552 45759552 single base substitution A G upstream_gene_variant BRCA-EU 19 45759902 45759902 single base substitution G C intron_variant BRCA-EU 19 45759902 45759902 single base substitution G C upstream_gene_variant BRCA-EU 19 45763277 45763277 single base substitution G A intron_variant BRCA-EU 19 45763277 45763277 single base substitution G A upstream_gene_variant BRCA-EU 19 45765020 45765020 single base substitution C T intron_variant BRCA-EU 19 45765020 45765020 single base substitution C T upstream_gene_variant BRCA-EU 19 45766951 45766951 single base substitution G T intron_variant BRCA-EU 19 45766951 45766951 single base substitution G T upstream_gene_variant BRCA-EU 19 45767461 45767461 single base substitution G C intron_variant BRCA-EU 19 45767461 45767461 single base substitution G C upstream_gene_variant BRCA-EU 19 45767686 45767686 single base substitution G A intron_variant BRCA-EU 19 45767686 45767686 single base substitution G A upstream_gene_variant BRCA-EU 19 45767932 45767932 single base substitution A G intron_variant BRCA-EU 19 45767932 45767932 single base substitution A G upstream_gene_variant BRCA-EU 19 45769555 45769555 single base substitution G T downstream_gene_variant BRCA-EU 19 45769555 45769555 single base substitution G T intron_variant BRCA-EU 19 45772439 45772442 deletion of <=200bp CCAG - downstream_gene_variant BRCA-EU 19 45772439 45772442 deletion of <=200bp CCAG - intron_variant BRCA-EU 19 45772439 45772442 deletion of <=200bp CCAG - upstream_gene_variant BRCA-EU 19 45772447 45772447 single base substitution G T downstream_gene_variant BRCA-EU 19 45772447 45772447 single base substitution G T intron_variant BRCA-EU 19 45772447 45772447 single base substitution G T upstream_gene_variant BRCA-EU 19 45772926 45772926 single base substitution C T downstream_gene_variant BRCA-EU 19 45772926 45772926 single base substitution C T intron_variant BRCA-EU 19 45772926 45772926 single base substitution C T upstream_gene_variant BRCA-EU 19 45773202 45773202 single base substitution C G downstream_gene_variant BRCA-EU 19 45773202 45773202 single base substitution C G intron_variant BRCA-EU 19 45773202 45773202 single base substitution C G upstream_gene_variant BRCA-EU 19 45774879 45774879 single base substitution C G exon_variant BRCA-EU 19 45774879 45774879 single base substitution C G intron_variant BRCA-EU 19 45774879 45774879 single base substitution C G missense_variant D233E 699C>G BRCA-EU 19 45775787 45775787 single base substitution A C downstream_gene_variant BRCA-EU 19 45775787 45775787 single base substitution A C intron_variant BRCA-EU 19 45779213 45779213 single base substitution C A downstream_gene_variant BRCA-EU 19 45779213 45779213 single base substitution C A intron_variant BRCA-EU 19 45779213 45779213 single base substitution C A upstream_gene_variant BRCA-EU 19 45780342 45780342 deletion of <=200bp T - intron_variant BRCA-EU 19 45780342 45780342 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 45780843 45780843 single base substitution G C intron_variant BRCA-EU 19 45780843 45780843 single base substitution G C upstream_gene_variant BRCA-EU 19 45781460 45781460 deletion of <=200bp A - intron_variant BRCA-EU 19 45781460 45781460 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 45781710 45781710 single base substitution G A intron_variant BRCA-EU 19 45781710 45781710 single base substitution G A upstream_gene_variant BRCA-EU 19 45781960 45781960 single base substitution C T intron_variant BRCA-EU 19 45781960 45781960 single base substitution C T upstream_gene_variant BRCA-EU 19 45782248 45782248 single base substitution A T intron_variant BRCA-EU 19 45782248 45782248 single base substitution A T upstream_gene_variant BRCA-EU 19 45782344 45782344 single base substitution G T intron_variant BRCA-EU 19 45782344 45782344 single base substitution G T upstream_gene_variant BRCA-EU 19 45782898 45782898 single base substitution T G intron_variant BRCA-EU 19 45782898 45782898 single base substitution T G upstream_gene_variant BRCA-EU 19 45783049 45783049 single base substitution G C intron_variant BRCA-EU 19 45783049 45783049 single base substitution G C upstream_gene_variant BRCA-EU 19 45783660 45783660 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 45783660 45783660 single base substitution G A exon_variant BRCA-EU 19 45783660 45783660 single base substitution G A synonymous_variant R345R 1035G>A BRCA-EU 19 45784273 45784273 single base substitution C T downstream_gene_variant BRCA-EU 19 45784273 45784273 single base substitution C T intron_variant BRCA-EU 19 45784921 45784921 single base substitution A T downstream_gene_variant BRCA-EU 19 45784921 45784921 single base substitution A T intron_variant BRCA-EU 19 45785031 45785031 single base substitution G T downstream_gene_variant BRCA-EU 19 45785031 45785031 single base substitution G T intron_variant BRCA-EU 19 45785503 45785503 single base substitution A T downstream_gene_variant BRCA-EU 19 45785503 45785503 single base substitution A T intron_variant BRCA-EU 19 45785821 45785821 single base substitution C G downstream_gene_variant BRCA-EU 19 45785821 45785821 single base substitution C G intron_variant BRCA-EU 19 45787067 45787067 single base substitution G C downstream_gene_variant BRCA-EU 19 45787067 45787067 single base substitution G C intron_variant BRCA-EU 19 45787194 45787194 single base substitution T C downstream_gene_variant BRCA-EU 19 45787194 45787194 single base substitution T C intron_variant BRCA-EU 19 45789983 45789983 deletion of <=200bp A - intron_variant BRCA-EU 19 45791248 45791248 single base substitution G A downstream_gene_variant BRCA-EU 19 45791248 45791248 single base substitution G A exon_variant BRCA-EU 19 45791248 45791248 single base substitution G A intron_variant BRCA-EU 19 45793121 45793121 single base substitution G C downstream_gene_variant BRCA-EU 19 45793121 45793121 single base substitution G C intron_variant BRCA-EU 19 45794337 45794337 single base substitution C G downstream_gene_variant BRCA-EU 19 45794337 45794337 single base substitution C G intron_variant BRCA-EU 19 45795525 45795525 single base substitution A G downstream_gene_variant BRCA-EU 19 45795525 45795525 single base substitution A G intron_variant BRCA-EU 19 45795541 45795541 deletion of <=200bp A - downstream_gene_variant BRCA-EU 19 45795541 45795541 deletion of <=200bp A - intron_variant BRCA-EU 19 45795616 45795616 single base substitution G A downstream_gene_variant BRCA-EU 19 45795616 45795616 single base substitution G A intron_variant BRCA-EU 19 45797735 45797735 single base substitution G A intron_variant BRCA-EU 19 45798606 45798606 single base substitution G A intron_variant BRCA-EU 19 45799165 45799165 deletion of <=200bp T - intron_variant BRCA-EU 19 45799481 45799481 single base substitution C G intron_variant BRCA-EU 19 45799769 45799769 single base substitution A G intron_variant BRCA-EU 19 45800640 45800640 single base substitution T C intron_variant BRCA-EU 19 45800876 45800876 single base substitution G T intron_variant BRCA-EU 19 45802369 45802369 single base substitution G C intron_variant BRCA-EU 19 45804184 45804195 deletion of <=200bp AGGGGCGGCCCC - intron_variant BRCA-EU 19 45804914 45804914 single base substitution C G intron_variant BRCA-EU 19 45807484 45807484 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 45807484 45807484 single base substitution C T downstream_gene_variant BRCA-EU 19 45808577 45808577 single base substitution C G downstream_gene_variant BRCA-EU 19 45808899 45808899 single base substitution G A downstream_gene_variant BRCA-EU 19 45810056 45810058 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 19 45811370 45811370 single base substitution C G downstream_gene_variant BRCA-EU 19 45811435 45811435 single base substitution C T downstream_gene_variant BRCA-EU 19 45811829 45811829 single base substitution C A downstream_gene_variant BRCA-EU 19 45811935 45811935 single base substitution A G downstream_gene_variant BRCA-EU 19 45812983 45812983 single base substitution A G downstream_gene_variant BRCA-EU 19 45813070 45813070 single base substitution G A downstream_gene_variant BRCA-EU 19 45813232 45813232 single base substitution G A downstream_gene_variant BRCA-EU 19 45813445 45813445 single base substitution C A downstream_gene_variant BRCA-FR 19 45586105 45586105 single base substitution C T intron_variant BRCA-FR 19 45587724 45587724 single base substitution G C intron_variant BRCA-FR 19 45588132 45588132 single base substitution G A intron_variant BRCA-FR 19 45589508 45589508 single base substitution G C intron_variant BRCA-FR 19 45589626 45589626 single base substitution C T intron_variant BRCA-FR 19 45589698 45589698 single base substitution C G intron_variant BRCA-FR 19 45604965 45604965 single base substitution G T intron_variant BRCA-FR 19 45617030 45617030 single base substitution C T intron_variant BRCA-FR 19 45631373 45631373 single base substitution A T intron_variant BRCA-FR 19 45649261 45649261 single base substitution G A intron_variant BRCA-FR 19 45651955 45651955 single base substitution C T intron_variant BRCA-FR 19 45661629 45661629 single base substitution G C intron_variant BRCA-FR 19 45661835 45661835 single base substitution G C intron_variant BRCA-FR 19 45661857 45661857 single base substitution G C intron_variant BRCA-FR 19 45674547 45674547 single base substitution G A intron_variant BRCA-FR 19 45675222 45675222 single base substitution C G intron_variant BRCA-FR 19 45690568 45690568 single base substitution C T intron_variant BRCA-FR 19 45694505 45694505 single base substitution C T intron_variant BRCA-FR 19 45698055 45698055 single base substitution G A intron_variant BRCA-FR 19 45705371 45705371 single base substitution G A intron_variant BRCA-FR 19 45706485 45706485 single base substitution G A intron_variant BRCA-FR 19 45709078 45709078 single base substitution A T intron_variant BRCA-FR 19 45721096 45721096 single base substitution G C intron_variant BRCA-FR 19 45722179 45722179 single base substitution G A intron_variant BRCA-FR 19 45723391 45723391 single base substitution A G intron_variant BRCA-FR 19 45726373 45726373 single base substitution C T intron_variant BRCA-FR 19 45732157 45732157 single base substitution G A intron_variant BRCA-FR 19 45743540 45743540 single base substitution A T intron_variant BRCA-FR 19 45751915 45751915 single base substitution G A intron_variant BRCA-FR 19 45751915 45751915 single base substitution G A upstream_gene_variant BRCA-FR 19 45766951 45766951 single base substitution G T intron_variant BRCA-FR 19 45766951 45766951 single base substitution G T upstream_gene_variant BRCA-FR 19 45767461 45767461 single base substitution G C intron_variant BRCA-FR 19 45767461 45767461 single base substitution G C upstream_gene_variant BRCA-FR 19 45772624 45772624 single base substitution G A downstream_gene_variant BRCA-FR 19 45772624 45772624 single base substitution G A intron_variant BRCA-FR 19 45772624 45772624 single base substitution G A upstream_gene_variant BRCA-FR 19 45774877 45774877 single base substitution G C exon_variant BRCA-FR 19 45774877 45774877 single base substitution G C intron_variant BRCA-FR 19 45774877 45774877 single base substitution G C missense_variant D233H 697G>C BRCA-FR 19 45783049 45783049 single base substitution G C intron_variant BRCA-FR 19 45783049 45783049 single base substitution G C upstream_gene_variant BRCA-FR 19 45785628 45785628 single base substitution C T downstream_gene_variant BRCA-FR 19 45785628 45785628 single base substitution C T intron_variant BRCA-FR 19 45785821 45785821 single base substitution C G downstream_gene_variant BRCA-FR 19 45785821 45785821 single base substitution C G intron_variant BRCA-FR 19 45785917 45785917 single base substitution C T downstream_gene_variant BRCA-FR 19 45785917 45785917 single base substitution C T intron_variant BRCA-FR 19 45793121 45793121 single base substitution G C downstream_gene_variant BRCA-FR 19 45793121 45793121 single base substitution G C intron_variant BRCA-FR 19 45794337 45794337 single base substitution C G downstream_gene_variant BRCA-FR 19 45794337 45794337 single base substitution C G intron_variant BRCA-FR 19 45794379 45794379 single base substitution G C downstream_gene_variant BRCA-FR 19 45794379 45794379 single base substitution G C intron_variant BRCA-UK 19 45588419 45588419 single base substitution C G intron_variant BRCA-UK 19 45589895 45589895 single base substitution C T intron_variant BRCA-UK 19 45590486 45590486 single base substitution C T intron_variant BRCA-UK 19 45590511 45590511 single base substitution C T intron_variant BRCA-UK 19 45591535 45591535 single base substitution C G intron_variant BRCA-UK 19 45595308 45595308 single base substitution C T intron_variant BRCA-UK 19 45622462 45622462 single base substitution G C intron_variant BRCA-UK 19 45624994 45624994 single base substitution C G intron_variant BRCA-UK 19 45639714 45639714 single base substitution C A intron_variant BRCA-UK 19 45644723 45644723 single base substitution A C intron_variant BRCA-UK 19 45686300 45686300 single base substitution A G intron_variant BRCA-UK 19 45714313 45714313 single base substitution G A intron_variant BRCA-UK 19 45754327 45754327 single base substitution C T intron_variant BRCA-UK 19 45754327 45754327 single base substitution C T upstream_gene_variant BRCA-UK 19 45783660 45783660 single base substitution G A 3_prime_UTR_variant BRCA-UK 19 45783660 45783660 single base substitution G A exon_variant BRCA-UK 19 45783660 45783660 single base substitution G A synonymous_variant R345R 1035G>A BRCA-UK 19 45794872 45794872 single base substitution C T downstream_gene_variant BRCA-UK 19 45794872 45794872 single base substitution C T intron_variant BRCA-US 19 45593382 45593382 single base substitution C A intron_variant BRCA-US 19 45649032 45649032 single base substitution G A intron_variant BRCA-US 19 45656343 45656343 single base substitution C G intron_variant BRCA-US 19 45662050 45662050 single base substitution G T intron_variant BRCA-US 19 45662102 45662102 single base substitution G A intron_variant BRCA-US 19 45666465 45666465 single base substitution C T intron_variant BRCA-US 19 45683173 45683173 single base substitution T A intron_variant BRCA-US 19 45731006 45731006 single base substitution G A intron_variant BRCA-US 19 45735069 45735069 single base substitution G A intron_variant BRCA-US 19 45762346 45762346 single base substitution G A 5_prime_UTR_variant BRCA-US 19 45762346 45762346 single base substitution G A intron_variant BRCA-US 19 45762346 45762346 single base substitution G A missense_variant E51K 151G>A BRCA-US 19 45762346 45762346 single base substitution G A upstream_gene_variant BRCA-US 19 45801476 45801476 single base substitution G T intron_variant BRCA-US 19 45801476 45801476 single base substitution G T missense_variant K651N 1953G>T BTCA-JP 19 45645581 45645581 single base substitution A G intron_variant BTCA-JP 19 45648353 45648353 single base substitution C T intron_variant BTCA-JP 19 45648377 45648377 single base substitution C T intron_variant BTCA-JP 19 45649285 45649285 single base substitution G T intron_variant BTCA-JP 19 45655642 45655642 single base substitution C T intron_variant BTCA-JP 19 45661960 45661960 single base substitution C T intron_variant BTCA-JP 19 45663116 45663116 single base substitution G A intron_variant BTCA-JP 19 45668469 45668469 single base substitution G A intron_variant BTCA-JP 19 45668570 45668570 single base substitution G T intron_variant BTCA-JP 19 45721596 45721596 single base substitution G A intron_variant BTCA-JP 19 45766594 45766594 single base substitution C T 5_prime_UTR_variant BTCA-JP 19 45766594 45766594 single base substitution C T exon_variant BTCA-JP 19 45766594 45766594 single base substitution C T intron_variant BTCA-JP 19 45766594 45766594 single base substitution C T synonymous_variant R108R 324C>T BTCA-JP 19 45766594 45766594 single base substitution C T upstream_gene_variant BTCA-JP 19 45769575 45769575 single base substitution G A downstream_gene_variant BTCA-JP 19 45769575 45769575 single base substitution G A intron_variant BTCA-JP 19 45781087 45781087 single base substitution G T intron_variant BTCA-JP 19 45781087 45781087 single base substitution G T upstream_gene_variant BTCA-JP 19 45783548 45783548 single base substitution A G exon_variant BTCA-JP 19 45783548 45783548 single base substitution A G intron_variant BTCA-JP 19 45790951 45790951 single base substitution T C downstream_gene_variant BTCA-JP 19 45790951 45790951 single base substitution T C exon_variant BTCA-JP 19 45790951 45790951 single base substitution T C intron_variant BTCA-JP 19 45801580 45801580 single base substitution G T intron_variant BTCA-JP 19 45801580 45801590 deletion of <=200bp GGTCTGTGCGT - intron_variant CESC-US 19 45593642 45593642 single base substitution C T intron_variant CESC-US 19 45645571 45645571 single base substitution G A intron_variant CESC-US 19 45646855 45646855 single base substitution C G intron_variant CESC-US 19 45648381 45648381 single base substitution G A intron_variant CESC-US 19 45648494 45648494 single base substitution C T intron_variant CESC-US 19 45649049 45649049 single base substitution G A intron_variant CESC-US 19 45655990 45655990 single base substitution C T intron_variant CESC-US 19 45657004 45657004 single base substitution C T intron_variant CESC-US 19 45684652 45684652 single base substitution C T intron_variant CESC-US 19 45716518 45716518 single base substitution C T intron_variant CESC-US 19 45728159 45728159 single base substitution C T intron_variant CESC-US 19 45801453 45801453 single base substitution G A intron_variant CESC-US 19 45801453 45801453 single base substitution G A missense_variant A644T 1930G>A CLLE-ES 19 45578747 45578747 single base substitution G A upstream_gene_variant CLLE-ES 19 45581933 45581933 single base substitution A G upstream_gene_variant CLLE-ES 19 45634460 45634460 single base substitution G A intron_variant CLLE-ES 19 45662987 45662987 single base substitution T C intron_variant CLLE-ES 19 45715260 45715260 single base substitution G A intron_variant CLLE-ES 19 45735673 45735673 single base substitution C A intron_variant CLLE-ES 19 45750801 45750801 single base substitution A T intron_variant CLLE-ES 19 45750801 45750801 single base substitution A T upstream_gene_variant CLLE-ES 19 45764719 45764719 single base substitution G A intron_variant CLLE-ES 19 45764719 45764719 single base substitution G A upstream_gene_variant CLLE-ES 19 45779847 45779847 single base substitution C T downstream_gene_variant CLLE-ES 19 45779847 45779847 single base substitution C T intron_variant CLLE-ES 19 45779847 45779847 single base substitution C T upstream_gene_variant CLLE-ES 19 45795942 45795942 single base substitution C G downstream_gene_variant CLLE-ES 19 45795942 45795942 single base substitution C G intron_variant CLLE-ES 19 45802779 45802779 single base substitution C T intron_variant CLLE-ES 19 45803383 45803383 single base substitution G T intron_variant COAD-US 19 45593739 45593739 single base substitution G A intron_variant COAD-US 19 45655363 45655363 deletion of <=200bp G - intron_variant COAD-US 19 45655417 45655417 single base substitution C T intron_variant COAD-US 19 45655440 45655440 single base substitution C T intron_variant COAD-US 19 45655647 45655647 single base substitution G T intron_variant COAD-US 19 45656017 45656017 single base substitution G A intron_variant COAD-US 19 45656068 45656068 single base substitution C T intron_variant COAD-US 19 45656430 45656430 single base substitution C T intron_variant COAD-US 19 45656447 45656447 single base substitution C T intron_variant COAD-US 19 45656522 45656522 deletion of <=200bp C - intron_variant COAD-US 19 45667472 45667472 deletion of <=200bp G - intron_variant COAD-US 19 45681401 45681406 deletion of <=200bp CGGGGT - intron_variant COAD-US 19 45681413 45681413 single base substitution C A intron_variant COAD-US 19 45682698 45682698 single base substitution C A intron_variant COAD-US 19 45716563 45716563 single base substitution C T intron_variant COAD-US 19 45730947 45730947 single base substitution G A intron_variant COAD-US 19 45731011 45731011 single base substitution G A intron_variant COAD-US 19 45731019 45731019 single base substitution C T intron_variant COAD-US 19 45754854 45754854 single base substitution C T exon_variant COAD-US 19 45754854 45754854 single base substitution C T intron_variant COAD-US 19 45754854 45754854 single base substitution C T missense_variant S3L 8C>T COAD-US 19 45769490 45769490 single base substitution C T exon_variant COAD-US 19 45769490 45769490 single base substitution C T intron_variant COAD-US 19 45769490 45769490 single base substitution C T missense_variant S167L 500C>T COAD-US 19 45769490 45769490 single base substitution C T missense_variant S58L 173C>T COAD-US 19 45774834 45774834 deletion of <=200bp C - exon_variant COAD-US 19 45774834 45774834 deletion of <=200bp C - frameshift_variant S218 COAD-US 19 45774951 45774951 single base substitution C T downstream_gene_variant COAD-US 19 45774951 45774951 single base substitution C T exon_variant COAD-US 19 45774951 45774951 single base substitution C T intron_variant COAD-US 19 45774951 45774951 single base substitution C T synonymous_variant D257D 771C>T COAD-US 19 45781285 45781285 single base substitution A G 3_prime_UTR_variant COAD-US 19 45781285 45781285 single base substitution A G exon_variant COAD-US 19 45781285 45781285 single base substitution A G intron_variant COAD-US 19 45781285 45781285 single base substitution A G synonymous_variant K297K 891A>G COAD-US 19 45781285 45781285 single base substitution A G upstream_gene_variant COAD-US 19 45790753 45790753 single base substitution C T 3_prime_UTR_variant COAD-US 19 45790753 45790753 single base substitution C T exon_variant COAD-US 19 45790753 45790753 single base substitution C T missense_variant T442M 1325C>T COAD-US 19 45790780 45790780 single base substitution G A 3_prime_UTR_variant COAD-US 19 45790780 45790780 single base substitution G A exon_variant COAD-US 19 45790780 45790780 single base substitution G A missense_variant R451Q 1352G>A COAD-US 19 45801018 45801018 single base substitution T C synonymous_variant R561R 1683T>C COAD-US 19 45801031 45801031 single base substitution C T missense_variant R566C 1696C>T COAD-US 19 45801166 45801166 single base substitution C A missense_variant P611T 1831C>A COAD-US 19 45805664 45805664 deletion of <=200bp C - frameshift_variant A652 COAD-US 19 45805664 45805664 deletion of <=200bp C - frameshift_variant P679 COAD-US 19 45810845 45810845 single base substitution G A downstream_gene_variant COCA-CN 19 45579014 45579014 single base substitution C T upstream_gene_variant COCA-CN 19 45593621 45593621 single base substitution C T intron_variant COCA-CN 19 45593658 45593658 single base substitution G A intron_variant COCA-CN 19 45593806 45593806 single base substitution C T intron_variant COCA-CN 19 45643482 45643482 single base substitution C A intron_variant COCA-CN 19 45645353 45645353 single base substitution C T intron_variant COCA-CN 19 45648773 45648773 single base substitution G A intron_variant COCA-CN 19 45656034 45656034 single base substitution C T intron_variant COCA-CN 19 45666460 45666460 single base substitution G A intron_variant COCA-CN 19 45667152 45667152 single base substitution C A intron_variant COCA-CN 19 45683010 45683010 single base substitution G A intron_variant COCA-CN 19 45715680 45715680 single base substitution T C intron_variant COCA-CN 19 45719602 45719602 single base substitution C T intron_variant COCA-CN 19 45720761 45720761 single base substitution C T intron_variant COCA-CN 19 45728117 45728117 single base substitution C A intron_variant COCA-CN 19 45733117 45733117 single base substitution G A intron_variant COCA-CN 19 45742818 45742818 single base substitution A G intron_variant COCA-CN 19 45767944 45767944 single base substitution A C intron_variant COCA-CN 19 45767944 45767944 single base substitution A C missense_variant K11Q 31A>C COCA-CN 19 45767944 45767944 single base substitution A C missense_variant K120Q 358A>C COCA-CN 19 45767944 45767944 single base substitution A C splice_region_variant COCA-CN 19 45767944 45767944 single base substitution A C upstream_gene_variant COCA-CN 19 45774876 45774876 single base substitution C T exon_variant COCA-CN 19 45774876 45774876 single base substitution C T intron_variant COCA-CN 19 45774876 45774876 single base substitution C T synonymous_variant Y232Y 696C>T COCA-CN 19 45774933 45774933 single base substitution C T exon_variant COCA-CN 19 45774933 45774933 single base substitution C T intron_variant COCA-CN 19 45774933 45774933 single base substitution C T synonymous_variant S251S 753C>T COCA-CN 19 45783692 45783692 single base substitution A C 3_prime_UTR_variant COCA-CN 19 45783692 45783692 single base substitution A C exon_variant COCA-CN 19 45783692 45783692 single base substitution A C missense_variant K356T 1067A>C COCA-CN 19 45790828 45790828 single base substitution G A 3_prime_UTR_variant COCA-CN 19 45790828 45790828 single base substitution G A exon_variant COCA-CN 19 45790828 45790828 single base substitution G A missense_variant R467Q 1400G>A COCA-CN 19 45797677 45797677 single base substitution G A missense_variant R522H 1565G>A COCA-CN 19 45797714 45797714 single base substitution C T splice_region_variant COCA-CN 19 45797892 45797892 single base substitution T G intron_variant COCA-CN 19 45801452 45801452 single base substitution C T intron_variant COCA-CN 19 45801452 45801452 single base substitution C T synonymous_variant G643G 1929C>T COCA-CN 19 45805530 45805530 single base substitution A G intron_variant COCA-CN 19 45805740 45805740 single base substitution G A 3_prime_UTR_variant COCA-CN 19 45805740 45805740 single base substitution G A synonymous_variant L677L 2031G>A COCA-CN 19 45805936 45805936 single base substitution G A 3_prime_UTR_variant COCA-CN 19 45805936 45805936 single base substitution G A missense_variant V743I 2227G>A EOPC-DE 19 45611400 45611400 single base substitution G A intron_variant EOPC-DE 19 45632252 45632252 single base substitution G T intron_variant EOPC-DE 19 45664317 45664317 single base substitution C T intron_variant EOPC-DE 19 45707403 45707403 single base substitution T G intron_variant EOPC-DE 19 45710314 45710314 single base substitution T C intron_variant EOPC-DE 19 45765612 45765612 single base substitution G A intron_variant EOPC-DE 19 45765612 45765612 single base substitution G A upstream_gene_variant ESAD-UK 19 45582401 45582401 single base substitution C T upstream_gene_variant ESAD-UK 19 45582496 45582496 single base substitution G C upstream_gene_variant ESAD-UK 19 45582502 45582502 single base substitution C T upstream_gene_variant ESAD-UK 19 45585031 45585031 single base substitution C T intron_variant ESAD-UK 19 45586154 45586154 single base substitution T C intron_variant ESAD-UK 19 45586157 45586157 single base substitution T G intron_variant ESAD-UK 19 45586158 45586158 single base substitution T C intron_variant ESAD-UK 19 45586345 45586345 single base substitution A G intron_variant ESAD-UK 19 45591699 45591699 single base substitution C A intron_variant ESAD-UK 19 45591727 45591727 single base substitution G A intron_variant ESAD-UK 19 45591984 45591984 single base substitution A T intron_variant ESAD-UK 19 45593427 45593427 single base substitution G A intron_variant ESAD-UK 19 45595459 45595459 single base substitution T A intron_variant ESAD-UK 19 45598530 45598530 single base substitution A T intron_variant ESAD-UK 19 45599118 45599118 single base substitution C T intron_variant ESAD-UK 19 45599320 45599320 single base substitution C T intron_variant ESAD-UK 19 45602938 45602938 single base substitution A T intron_variant ESAD-UK 19 45603084 45603084 single base substitution G A intron_variant ESAD-UK 19 45603642 45603642 single base substitution C T intron_variant ESAD-UK 19 45605786 45605786 single base substitution G T intron_variant ESAD-UK 19 45606299 45606299 single base substitution G A intron_variant ESAD-UK 19 45609649 45609649 single base substitution G A intron_variant ESAD-UK 19 45611180 45611180 single base substitution G A intron_variant ESAD-UK 19 45612640 45612640 single base substitution C T intron_variant ESAD-UK 19 45615484 45615484 single base substitution C T intron_variant ESAD-UK 19 45618097 45618097 single base substitution G C intron_variant ESAD-UK 19 45621325 45621325 single base substitution C A intron_variant ESAD-UK 19 45621443 45621443 single base substitution C G intron_variant ESAD-UK 19 45623555 45623555 single base substitution G A intron_variant ESAD-UK 19 45628270 45628270 single base substitution G A intron_variant ESAD-UK 19 45628278 45628278 single base substitution C T intron_variant ESAD-UK 19 45628324 45628324 single base substitution G A intron_variant ESAD-UK 19 45629841 45629841 single base substitution C G intron_variant ESAD-UK 19 45631025 45631025 single base substitution G T intron_variant ESAD-UK 19 45631403 45631403 single base substitution T G intron_variant ESAD-UK 19 45631813 45631813 single base substitution G A intron_variant ESAD-UK 19 45636633 45636633 single base substitution C T intron_variant ESAD-UK 19 45637051 45637051 single base substitution A G intron_variant ESAD-UK 19 45638200 45638200 single base substitution T A intron_variant ESAD-UK 19 45642641 45642641 single base substitution C T intron_variant ESAD-UK 19 45643870 45643870 single base substitution C T intron_variant ESAD-UK 19 45644245 45644245 single base substitution G T intron_variant ESAD-UK 19 45644453 45644453 single base substitution C T intron_variant ESAD-UK 19 45644926 45644926 single base substitution T G intron_variant ESAD-UK 19 45646795 45646795 single base substitution C T intron_variant ESAD-UK 19 45651802 45651802 single base substitution G A intron_variant ESAD-UK 19 45654891 45654891 single base substitution G A intron_variant ESAD-UK 19 45655314 45655314 single base substitution C T intron_variant ESAD-UK 19 45655331 45655331 single base substitution C T intron_variant ESAD-UK 19 45655545 45655545 single base substitution T C intron_variant ESAD-UK 19 45655834 45655834 single base substitution A G intron_variant ESAD-UK 19 45656940 45656940 single base substitution T C intron_variant ESAD-UK 19 45663076 45663076 single base substitution C T intron_variant ESAD-UK 19 45663301 45663301 single base substitution C T intron_variant ESAD-UK 19 45663715 45663715 single base substitution G A intron_variant ESAD-UK 19 45667417 45667417 single base substitution C T intron_variant ESAD-UK 19 45667843 45667851 deletion of <=200bp GGGGGTAGG - intron_variant ESAD-UK 19 45667846 45667846 single base substitution G A intron_variant ESAD-UK 19 45669549 45669549 single base substitution C A intron_variant ESAD-UK 19 45669882 45669882 deletion of <=200bp G - intron_variant ESAD-UK 19 45671953 45671953 single base substitution C T intron_variant ESAD-UK 19 45672614 45672614 single base substitution G A intron_variant ESAD-UK 19 45672980 45672980 single base substitution G A intron_variant ESAD-UK 19 45673268 45673268 single base substitution G A intron_variant ESAD-UK 19 45673319 45673319 single base substitution T A intron_variant ESAD-UK 19 45673658 45673658 single base substitution G A intron_variant ESAD-UK 19 45676183 45676183 single base substitution G T intron_variant ESAD-UK 19 45677070 45677070 single base substitution C G intron_variant ESAD-UK 19 45677584 45677584 single base substitution G A intron_variant ESAD-UK 19 45677644 45677644 single base substitution C G intron_variant ESAD-UK 19 45678248 45678248 single base substitution G A intron_variant ESAD-UK 19 45680351 45680351 single base substitution G T intron_variant ESAD-UK 19 45680441 45680441 single base substitution G A intron_variant ESAD-UK 19 45681676 45681676 single base substitution T G intron_variant ESAD-UK 19 45684187 45684187 single base substitution G A intron_variant ESAD-UK 19 45684524 45684524 single base substitution C T intron_variant ESAD-UK 19 45687272 45687272 single base substitution A C intron_variant ESAD-UK 19 45687380 45687380 single base substitution C T intron_variant ESAD-UK 19 45690546 45690546 single base substitution G A intron_variant ESAD-UK 19 45691927 45691927 single base substitution T G intron_variant ESAD-UK 19 45692194 45692194 single base substitution G A intron_variant ESAD-UK 19 45693976 45693976 single base substitution A G intron_variant ESAD-UK 19 45694630 45694630 single base substitution C T intron_variant ESAD-UK 19 45695138 45695138 single base substitution C T intron_variant ESAD-UK 19 45699256 45699256 single base substitution C G intron_variant ESAD-UK 19 45700513 45700513 single base substitution G T intron_variant ESAD-UK 19 45701380 45701380 single base substitution G A intron_variant ESAD-UK 19 45702477 45702477 single base substitution T A intron_variant ESAD-UK 19 45703072 45703072 single base substitution G A intron_variant ESAD-UK 19 45703359 45703359 single base substitution C T intron_variant ESAD-UK 19 45705728 45705728 single base substitution G T intron_variant ESAD-UK 19 45706772 45706772 single base substitution C T intron_variant ESAD-UK 19 45706821 45706821 single base substitution C T intron_variant ESAD-UK 19 45708004 45708004 single base substitution T C intron_variant ESAD-UK 19 45708141 45708141 single base substitution C T intron_variant ESAD-UK 19 45708584 45708584 single base substitution C T intron_variant ESAD-UK 19 45709606 45709606 single base substitution A G intron_variant ESAD-UK 19 45711381 45711381 single base substitution T C intron_variant ESAD-UK 19 45711683 45711683 single base substitution G A intron_variant ESAD-UK 19 45716133 45716133 single base substitution C T intron_variant ESAD-UK 19 45716417 45716417 single base substitution G A intron_variant ESAD-UK 19 45727625 45727625 single base substitution G A intron_variant ESAD-UK 19 45729234 45729234 single base substitution C T intron_variant ESAD-UK 19 45730205 45730205 single base substitution G A intron_variant ESAD-UK 19 45731019 45731019 single base substitution C T intron_variant ESAD-UK 19 45734262 45734262 single base substitution C T intron_variant ESAD-UK 19 45734870 45734870 single base substitution G T intron_variant ESAD-UK 19 45735850 45735850 single base substitution A C intron_variant ESAD-UK 19 45738638 45738638 single base substitution G A intron_variant ESAD-UK 19 45739028 45739028 single base substitution C A intron_variant ESAD-UK 19 45739815 45739815 single base substitution T C intron_variant ESAD-UK 19 45740735 45740735 single base substitution T C intron_variant ESAD-UK 19 45742261 45742261 single base substitution G T intron_variant ESAD-UK 19 45743526 45743526 insertion of <=200bp - TTAA intron_variant ESAD-UK 19 45743548 45743548 single base substitution T A intron_variant ESAD-UK 19 45746578 45746578 single base substitution C T intron_variant ESAD-UK 19 45747373 45747373 single base substitution G A intron_variant ESAD-UK 19 45748373 45748373 single base substitution G A intron_variant ESAD-UK 19 45749996 45749996 single base substitution A T intron_variant ESAD-UK 19 45749996 45749996 single base substitution A T upstream_gene_variant ESAD-UK 19 45750172 45750172 deletion of <=200bp T - intron_variant ESAD-UK 19 45750172 45750172 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 45750418 45750418 single base substitution C T intron_variant ESAD-UK 19 45750418 45750418 single base substitution C T upstream_gene_variant ESAD-UK 19 45750780 45750780 single base substitution C T intron_variant ESAD-UK 19 45750780 45750780 single base substitution C T upstream_gene_variant ESAD-UK 19 45750855 45750858 deletion of <=200bp TTAT - intron_variant ESAD-UK 19 45750855 45750858 deletion of <=200bp TTAT - upstream_gene_variant ESAD-UK 19 45752373 45752373 single base substitution T A intron_variant ESAD-UK 19 45752373 45752373 single base substitution T A upstream_gene_variant ESAD-UK 19 45754976 45754976 single base substitution C T intron_variant ESAD-UK 19 45756449 45756449 single base substitution A C intron_variant ESAD-UK 19 45756959 45756959 single base substitution G A intron_variant ESAD-UK 19 45757113 45757113 single base substitution C T intron_variant ESAD-UK 19 45757220 45757220 single base substitution G T intron_variant ESAD-UK 19 45757220 45757220 single base substitution G T upstream_gene_variant ESAD-UK 19 45757866 45757866 single base substitution C A intron_variant ESAD-UK 19 45757866 45757866 single base substitution C A upstream_gene_variant ESAD-UK 19 45767899 45767899 single base substitution G T intron_variant ESAD-UK 19 45767899 45767899 single base substitution G T upstream_gene_variant ESAD-UK 19 45768764 45768764 single base substitution C G intron_variant ESAD-UK 19 45769763 45769763 single base substitution G A downstream_gene_variant ESAD-UK 19 45769763 45769763 single base substitution G A intron_variant ESAD-UK 19 45769763 45769763 single base substitution G A upstream_gene_variant ESAD-UK 19 45770439 45770439 single base substitution C T downstream_gene_variant ESAD-UK 19 45770439 45770439 single base substitution C T intron_variant ESAD-UK 19 45770439 45770439 single base substitution C T upstream_gene_variant ESAD-UK 19 45773182 45773182 single base substitution G A downstream_gene_variant ESAD-UK 19 45773182 45773182 single base substitution G A intron_variant ESAD-UK 19 45773182 45773182 single base substitution G A upstream_gene_variant ESAD-UK 19 45773234 45773234 single base substitution C T downstream_gene_variant ESAD-UK 19 45773234 45773234 single base substitution C T intron_variant ESAD-UK 19 45773234 45773234 single base substitution C T upstream_gene_variant ESAD-UK 19 45777762 45777762 single base substitution G A downstream_gene_variant ESAD-UK 19 45777762 45777762 single base substitution G A intron_variant ESAD-UK 19 45781452 45781452 single base substitution G A intron_variant ESAD-UK 19 45781452 45781452 single base substitution G A upstream_gene_variant ESAD-UK 19 45785193 45785193 single base substitution G C downstream_gene_variant ESAD-UK 19 45785193 45785193 single base substitution G C intron_variant ESAD-UK 19 45785596 45785596 deletion of <=200bp T - downstream_gene_variant ESAD-UK 19 45785596 45785596 deletion of <=200bp T - intron_variant ESAD-UK 19 45790791 45790791 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 45790791 45790791 single base substitution C T exon_variant ESAD-UK 19 45790791 45790791 single base substitution C T missense_variant R455W 1363C>T ESAD-UK 19 45791958 45791958 single base substitution A C downstream_gene_variant ESAD-UK 19 45791958 45791958 single base substitution A C intron_variant ESAD-UK 19 45792172 45792172 single base substitution C T downstream_gene_variant ESAD-UK 19 45792172 45792172 single base substitution C T intron_variant ESAD-UK 19 45792849 45792849 single base substitution G A downstream_gene_variant ESAD-UK 19 45792849 45792849 single base substitution G A intron_variant ESAD-UK 19 45794512 45794512 single base substitution G A downstream_gene_variant ESAD-UK 19 45794512 45794512 single base substitution G A intron_variant ESAD-UK 19 45796225 45796225 single base substitution G A downstream_gene_variant ESAD-UK 19 45796225 45796225 single base substitution G A intron_variant ESAD-UK 19 45797731 45797731 single base substitution G A intron_variant ESAD-UK 19 45804132 45804132 single base substitution C G intron_variant ESAD-UK 19 45804560 45804560 single base substitution G A intron_variant ESAD-UK 19 45805335 45805335 single base substitution G T intron_variant ESAD-UK 19 45810499 45810499 single base substitution G A downstream_gene_variant ESAD-UK 19 45810709 45810709 single base substitution G A downstream_gene_variant ESAD-UK 19 45811646 45811646 single base substitution C T downstream_gene_variant ESAD-UK 19 45811690 45811690 single base substitution G A downstream_gene_variant ESAD-UK 19 45813020 45813020 single base substitution G A downstream_gene_variant ESCA-CN 19 45641860 45641860 single base substitution G A intron_variant ESCA-CN 19 45641894 45641894 single base substitution G A intron_variant ESCA-CN 19 45645459 45645459 single base substitution C T intron_variant ESCA-CN 19 45716535 45716535 single base substitution C T intron_variant ESCA-CN 19 45806418 45806418 single base substitution G A 3_prime_UTR_variant GBM-US 19 45728158 45728158 single base substitution G A intron_variant GBM-US 19 45774954 45774954 single base substitution G A downstream_gene_variant GBM-US 19 45774954 45774954 single base substitution G A exon_variant GBM-US 19 45774954 45774954 single base substitution G A intron_variant GBM-US 19 45774954 45774954 single base substitution G A synonymous_variant G258G 774G>A GBM-US 19 45781188 45781188 single base substitution G A exon_variant GBM-US 19 45781188 45781188 single base substitution G A intron_variant GBM-US 19 45781188 45781188 single base substitution G A missense_variant R265Q 794G>A GBM-US 19 45781188 45781188 single base substitution G A upstream_gene_variant KIRC-US 19 45593483 45593483 single base substitution G T intron_variant KIRC-US 19 45666460 45666460 single base substitution G A intron_variant KIRC-US 19 45731306 45731306 single base substitution T C intron_variant KIRC-US 19 45800968 45800968 single base substitution T C missense_variant S545P 1633T>C KIRP-US 19 45655438 45655438 single base substitution G T intron_variant KIRP-US 19 45656458 45656458 single base substitution G A intron_variant KIRP-US 19 45720794 45720794 deletion of <=200bp G - intron_variant LAML-KR 19 45669564 45669564 single base substitution A T intron_variant LAML-KR 19 45697650 45697650 single base substitution C T intron_variant LAML-KR 19 45697651 45697651 single base substitution A G intron_variant LAML-KR 19 45710588 45710588 single base substitution G A intron_variant LAML-KR 19 45716678 45716678 single base substitution G C intron_variant LAML-KR 19 45742600 45742600 single base substitution T G intron_variant LAML-KR 19 45742788 45742788 single base substitution C T intron_variant LAML-KR 19 45783469 45783469 single base substitution G A exon_variant LAML-KR 19 45783469 45783469 single base substitution G A intron_variant LAML-KR 19 45792963 45792963 single base substitution A G downstream_gene_variant LAML-KR 19 45792963 45792963 single base substitution A G intron_variant LAML-KR 19 45810707 45810707 single base substitution T G downstream_gene_variant LAML-KR 19 45812478 45812478 single base substitution T C downstream_gene_variant LAML-KR 19 45812550 45812550 single base substitution T C downstream_gene_variant LGG-US 19 45655769 45655771 deletion of <=200bp CTG - intron_variant LICA-CN 19 45656527 45656527 single base substitution A T intron_variant LICA-CN 19 45662325 45662325 single base substitution G C intron_variant LICA-CN 19 45716354 45716354 single base substitution A T intron_variant LICA-CN 19 45716562 45716562 single base substitution G T intron_variant LICA-CN 19 45783957 45783957 single base substitution C T 3_prime_UTR_variant LICA-CN 19 45783957 45783957 single base substitution C T downstream_gene_variant LICA-CN 19 45783957 45783957 single base substitution C T exon_variant LICA-CN 19 45783957 45783957 single base substitution C T missense_variant S414F 1241C>T LICA-CN 19 45803114 45803114 single base substitution G A splice_donor_variant LICA-FR 19 45580338 45580338 single base substitution G C upstream_gene_variant LICA-FR 19 45586045 45586045 insertion of <=200bp - TTT intron_variant LICA-FR 19 45596155 45596155 single base substitution T A intron_variant LICA-FR 19 45608486 45608486 single base substitution G A intron_variant LICA-FR 19 45609071 45609071 single base substitution G A intron_variant LICA-FR 19 45646857 45646857 single base substitution C T intron_variant LICA-FR 19 45649135 45649135 single base substitution C G intron_variant LICA-FR 19 45651491 45651491 single base substitution C T intron_variant LICA-FR 19 45656678 45656678 single base substitution G T intron_variant LICA-FR 19 45656972 45656972 single base substitution C T intron_variant LICA-FR 19 45667458 45667458 single base substitution C T intron_variant LICA-FR 19 45669158 45669158 single base substitution G C intron_variant LICA-FR 19 45682588 45682588 single base substitution C T intron_variant LICA-FR 19 45697094 45697094 single base substitution C T intron_variant LICA-FR 19 45720830 45720830 single base substitution G A intron_variant LICA-FR 19 45728531 45728531 deletion of <=200bp T - intron_variant LICA-FR 19 45761247 45761247 insertion of <=200bp - T intron_variant LICA-FR 19 45761247 45761247 insertion of <=200bp - T upstream_gene_variant LICA-FR 19 45763648 45763649 deletion of <=200bp AA - intron_variant LICA-FR 19 45763648 45763649 deletion of <=200bp AA - upstream_gene_variant LICA-FR 19 45774908 45774908 single base substitution G T exon_variant LICA-FR 19 45774908 45774908 single base substitution G T intron_variant LICA-FR 19 45774908 45774908 single base substitution G T missense_variant G243V 728G>T LICA-FR 19 45778993 45778993 single base substitution G A downstream_gene_variant LICA-FR 19 45778993 45778993 single base substitution G A intron_variant LICA-FR 19 45778993 45778993 single base substitution G A upstream_gene_variant LICA-FR 19 45787098 45787098 single base substitution G C downstream_gene_variant LICA-FR 19 45787098 45787098 single base substitution G C intron_variant LICA-FR 19 45798453 45798453 deletion of <=200bp A - intron_variant LICA-FR 19 45801017 45801017 single base substitution G T missense_variant R561L 1682G>T LICA-FR 19 45812910 45812910 single base substitution A T downstream_gene_variant LIHC-US 19 45668133 45668133 single base substitution T C intron_variant LIHC-US 19 45716529 45716529 single base substitution A G intron_variant LIHC-US 19 45730995 45730995 single base substitution G T intron_variant LIHC-US 19 45783689 45783689 single base substitution A T 3_prime_UTR_variant LIHC-US 19 45783689 45783689 single base substitution A T exon_variant LIHC-US 19 45783689 45783689 single base substitution A T missense_variant Q355L 1064A>T LIHC-US 19 45810804 45810804 single base substitution G T downstream_gene_variant LINC-JP 19 45578845 45578845 single base substitution G A upstream_gene_variant LINC-JP 19 45579321 45579321 single base substitution C T upstream_gene_variant LINC-JP 19 45584783 45584783 deletion of <=200bp A - intron_variant LINC-JP 19 45594771 45594771 single base substitution G A intron_variant LINC-JP 19 45623261 45623261 single base substitution A T intron_variant LINC-JP 19 45623722 45623722 single base substitution A G intron_variant LINC-JP 19 45624243 45624243 single base substitution C T intron_variant LINC-JP 19 45626410 45626410 single base substitution A G intron_variant LINC-JP 19 45641092 45641092 deletion of <=200bp A - intron_variant LINC-JP 19 45644627 45644627 single base substitution C T intron_variant LINC-JP 19 45655251 45655251 single base substitution C G intron_variant LINC-JP 19 45659014 45659014 insertion of <=200bp - G intron_variant LINC-JP 19 45666319 45666319 single base substitution C A intron_variant LINC-JP 19 45669774 45669774 deletion of <=200bp T - intron_variant LINC-JP 19 45706030 45706030 single base substitution C T intron_variant LINC-JP 19 45722638 45722638 single base substitution G C intron_variant LINC-JP 19 45731589 45731589 single base substitution C A intron_variant LINC-JP 19 45742164 45742164 single base substitution G T intron_variant LINC-JP 19 45763429 45763429 single base substitution C A intron_variant LINC-JP 19 45763429 45763429 single base substitution C A upstream_gene_variant LINC-JP 19 45764034 45764034 single base substitution A G intron_variant LINC-JP 19 45764034 45764034 single base substitution A G upstream_gene_variant LINC-JP 19 45766216 45766216 single base substitution T G intron_variant LINC-JP 19 45766216 45766216 single base substitution T G upstream_gene_variant LINC-JP 19 45791127 45791127 single base substitution T C downstream_gene_variant LINC-JP 19 45791127 45791127 single base substitution T C exon_variant LINC-JP 19 45791127 45791127 single base substitution T C intron_variant LINC-JP 19 45799959 45799959 single base substitution A G intron_variant LINC-JP 19 45803147 45803147 single base substitution C G intron_variant LINC-JP 19 45805037 45805037 single base substitution C A intron_variant LINC-JP 19 45805877 45805877 single base substitution G A 3_prime_UTR_variant LINC-JP 19 45805877 45805877 single base substitution G A missense_variant G723D 2168G>A LINC-JP 19 45809545 45809545 single base substitution A G downstream_gene_variant LINC-JP 19 45809977 45809977 single base substitution T C downstream_gene_variant LINC-JP 19 45810209 45810209 single base substitution C T downstream_gene_variant LIRI-JP 19 45579664 45579664 single base substitution A G upstream_gene_variant LIRI-JP 19 45583852 45583852 single base substitution G A intron_variant LIRI-JP 19 45584452 45584452 single base substitution C T intron_variant LIRI-JP 19 45585602 45585602 single base substitution A C intron_variant LIRI-JP 19 45586394 45586394 single base substitution A G intron_variant LIRI-JP 19 45590272 45590272 single base substitution T G intron_variant LIRI-JP 19 45591055 45591055 single base substitution A C intron_variant LIRI-JP 19 45592853 45592853 single base substitution T C intron_variant LIRI-JP 19 45597494 45597494 single base substitution G T intron_variant LIRI-JP 19 45603922 45603922 single base substitution G A intron_variant LIRI-JP 19 45608205 45608205 single base substitution A T intron_variant LIRI-JP 19 45611140 45611140 single base substitution G A intron_variant LIRI-JP 19 45612793 45612793 single base substitution G T intron_variant LIRI-JP 19 45613430 45613430 single base substitution G A intron_variant LIRI-JP 19 45617638 45617638 single base substitution C G intron_variant LIRI-JP 19 45621741 45621741 single base substitution C T intron_variant LIRI-JP 19 45623885 45623885 single base substitution A G intron_variant LIRI-JP 19 45629438 45629452 deletion of <=200bp GACCTTCCCTGCAGA - intron_variant LIRI-JP 19 45630081 45630081 single base substitution C T intron_variant LIRI-JP 19 45631463 45631463 single base substitution A G intron_variant LIRI-JP 19 45632524 45632524 single base substitution A G intron_variant LIRI-JP 19 45632848 45632848 single base substitution C T intron_variant LIRI-JP 19 45633377 45633377 single base substitution C T intron_variant LIRI-JP 19 45633699 45633699 single base substitution G A intron_variant LIRI-JP 19 45636661 45636663 deletion of <=200bp CAT - intron_variant LIRI-JP 19 45638069 45638069 single base substitution G A intron_variant LIRI-JP 19 45638740 45638740 single base substitution G T intron_variant LIRI-JP 19 45644748 45644748 deletion of <=200bp G - intron_variant LIRI-JP 19 45648434 45648434 single base substitution C T intron_variant LIRI-JP 19 45651044 45651044 single base substitution G T intron_variant LIRI-JP 19 45656262 45656262 single base substitution G A intron_variant LIRI-JP 19 45659813 45659813 single base substitution A C intron_variant LIRI-JP 19 45670144 45670144 single base substitution C T intron_variant LIRI-JP 19 45670172 45670172 single base substitution G A intron_variant LIRI-JP 19 45673791 45673791 single base substitution C A intron_variant LIRI-JP 19 45676374 45676374 single base substitution C T intron_variant LIRI-JP 19 45678754 45678754 single base substitution G C intron_variant LIRI-JP 19 45679053 45679053 single base substitution T C intron_variant LIRI-JP 19 45680851 45680851 single base substitution T A intron_variant LIRI-JP 19 45682019 45682019 single base substitution A T intron_variant LIRI-JP 19 45684799 45684799 insertion of <=200bp - T intron_variant LIRI-JP 19 45684853 45684853 single base substitution G A intron_variant LIRI-JP 19 45685522 45685522 single base substitution A G intron_variant LIRI-JP 19 45686187 45686187 single base substitution A G intron_variant LIRI-JP 19 45687210 45687210 single base substitution T C intron_variant LIRI-JP 19 45689244 45689244 single base substitution A T intron_variant LIRI-JP 19 45692381 45692381 single base substitution A G intron_variant LIRI-JP 19 45693895 45693895 single base substitution A G intron_variant LIRI-JP 19 45697020 45697020 single base substitution C T intron_variant LIRI-JP 19 45698576 45698576 single base substitution C T intron_variant LIRI-JP 19 45700731 45700731 single base substitution T C intron_variant LIRI-JP 19 45701842 45701842 single base substitution G A intron_variant LIRI-JP 19 45703137 45703137 single base substitution C A intron_variant LIRI-JP 19 45703711 45703711 single base substitution A G intron_variant LIRI-JP 19 45705499 45705499 single base substitution G T intron_variant LIRI-JP 19 45708225 45708225 single base substitution C T intron_variant LIRI-JP 19 45711182 45711182 single base substitution A G intron_variant LIRI-JP 19 45711797 45711797 single base substitution G T intron_variant LIRI-JP 19 45714930 45714934 deletion of <=200bp AGGAA - intron_variant LIRI-JP 19 45720732 45720732 single base substitution A C intron_variant LIRI-JP 19 45720825 45720825 single base substitution C G intron_variant LIRI-JP 19 45723187 45723187 single base substitution T C intron_variant LIRI-JP 19 45731293 45731293 single base substitution G C intron_variant LIRI-JP 19 45731564 45731564 single base substitution G A intron_variant LIRI-JP 19 45731802 45731802 single base substitution G A intron_variant LIRI-JP 19 45734593 45734593 single base substitution T G intron_variant LIRI-JP 19 45736198 45736198 single base substitution G A intron_variant LIRI-JP 19 45739423 45739423 single base substitution G C intron_variant LIRI-JP 19 45742020 45742020 single base substitution G T intron_variant LIRI-JP 19 45743540 45743540 single base substitution A T intron_variant LIRI-JP 19 45743689 45743689 single base substitution T A intron_variant LIRI-JP 19 45749378 45749378 single base substitution C T intron_variant LIRI-JP 19 45749737 45749737 single base substitution G A intron_variant LIRI-JP 19 45749737 45749737 single base substitution G A upstream_gene_variant LIRI-JP 19 45759831 45759831 single base substitution G T intron_variant LIRI-JP 19 45759831 45759831 single base substitution G T upstream_gene_variant LIRI-JP 19 45764113 45764113 single base substitution A G intron_variant LIRI-JP 19 45764113 45764113 single base substitution A G upstream_gene_variant LIRI-JP 19 45764173 45764173 single base substitution C A intron_variant LIRI-JP 19 45764173 45764173 single base substitution C A upstream_gene_variant LIRI-JP 19 45770551 45770551 single base substitution A G downstream_gene_variant LIRI-JP 19 45770551 45770551 single base substitution A G intron_variant LIRI-JP 19 45770551 45770551 single base substitution A G upstream_gene_variant LIRI-JP 19 45773133 45773133 single base substitution A T downstream_gene_variant LIRI-JP 19 45773133 45773133 single base substitution A T intron_variant LIRI-JP 19 45773133 45773133 single base substitution A T upstream_gene_variant LIRI-JP 19 45774612 45774612 single base substitution G A intron_variant LIRI-JP 19 45774612 45774612 single base substitution G A upstream_gene_variant LIRI-JP 19 45775283 45775283 single base substitution A G downstream_gene_variant LIRI-JP 19 45775283 45775283 single base substitution A G intron_variant LIRI-JP 19 45776058 45776058 single base substitution A G downstream_gene_variant LIRI-JP 19 45776058 45776058 single base substitution A G intron_variant LIRI-JP 19 45776544 45776544 single base substitution A G downstream_gene_variant LIRI-JP 19 45776544 45776544 single base substitution A G intron_variant LIRI-JP 19 45776672 45776672 single base substitution G T downstream_gene_variant LIRI-JP 19 45776672 45776672 single base substitution G T intron_variant LIRI-JP 19 45778338 45778338 single base substitution G A downstream_gene_variant LIRI-JP 19 45778338 45778338 single base substitution G A intron_variant LIRI-JP 19 45779420 45779420 single base substitution G T downstream_gene_variant LIRI-JP 19 45779420 45779420 single base substitution G T intron_variant LIRI-JP 19 45779420 45779420 single base substitution G T upstream_gene_variant LIRI-JP 19 45783646 45783646 single base substitution A G 3_prime_UTR_variant LIRI-JP 19 45783646 45783646 single base substitution A G exon_variant LIRI-JP 19 45783646 45783646 single base substitution A G missense_variant M341V 1021A>G LIRI-JP 19 45785090 45785090 single base substitution A G downstream_gene_variant LIRI-JP 19 45785090 45785090 single base substitution A G intron_variant LIRI-JP 19 45786257 45786257 single base substitution A G downstream_gene_variant LIRI-JP 19 45786257 45786257 single base substitution A G intron_variant LIRI-JP 19 45792771 45792771 single base substitution A G downstream_gene_variant LIRI-JP 19 45792771 45792771 single base substitution A G intron_variant LIRI-JP 19 45793235 45793235 single base substitution G A downstream_gene_variant LIRI-JP 19 45793235 45793235 single base substitution G A intron_variant LIRI-JP 19 45801411 45801411 single base substitution G T intron_variant LIRI-JP 19 45801411 45801411 single base substitution G T missense_variant D630Y 1888G>T LIRI-JP 19 45803501 45803501 single base substitution G A intron_variant LIRI-JP 19 45803886 45803886 single base substitution C G intron_variant LIRI-JP 19 45806212 45806212 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 45806751 45806751 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 45813167 45813167 single base substitution A G downstream_gene_variant LUSC-KR 19 45578672 45578672 single base substitution G A upstream_gene_variant LUSC-KR 19 45579858 45579858 single base substitution T A upstream_gene_variant LUSC-KR 19 45584235 45584235 single base substitution G C intron_variant LUSC-KR 19 45586060 45586060 single base substitution G T intron_variant LUSC-KR 19 45593730 45593730 single base substitution C T intron_variant LUSC-KR 19 45593749 45593749 single base substitution C G intron_variant LUSC-KR 19 45594528 45594528 single base substitution C T intron_variant LUSC-KR 19 45594797 45594797 single base substitution G A intron_variant LUSC-KR 19 45595461 45595461 single base substitution G T intron_variant LUSC-KR 19 45600856 45600856 single base substitution G A intron_variant LUSC-KR 19 45610972 45610972 single base substitution G C intron_variant LUSC-KR 19 45615702 45615702 single base substitution C T intron_variant LUSC-KR 19 45617264 45617264 single base substitution T C intron_variant LUSC-KR 19 45622333 45622333 single base substitution A C intron_variant LUSC-KR 19 45638961 45638961 single base substitution G C intron_variant LUSC-KR 19 45643360 45643360 single base substitution G A intron_variant LUSC-KR 19 45643685 45643685 single base substitution A G intron_variant LUSC-KR 19 45653720 45653720 single base substitution G A intron_variant LUSC-KR 19 45653789 45653789 single base substitution G A intron_variant LUSC-KR 19 45654279 45654279 single base substitution G A intron_variant LUSC-KR 19 45659562 45659562 single base substitution C T intron_variant LUSC-KR 19 45661577 45661577 single base substitution C T intron_variant LUSC-KR 19 45662391 45662391 single base substitution G T intron_variant LUSC-KR 19 45670346 45670346 single base substitution G A intron_variant LUSC-KR 19 45672043 45672043 single base substitution C T intron_variant LUSC-KR 19 45672098 45672098 single base substitution T A intron_variant LUSC-KR 19 45677201 45677201 single base substitution G A intron_variant LUSC-KR 19 45678468 45678468 single base substitution C G intron_variant LUSC-KR 19 45679870 45679870 single base substitution C G intron_variant LUSC-KR 19 45680451 45680451 single base substitution A G intron_variant LUSC-KR 19 45681485 45681485 single base substitution C A intron_variant LUSC-KR 19 45681735 45681735 single base substitution G T intron_variant LUSC-KR 19 45685541 45685541 single base substitution G C intron_variant LUSC-KR 19 45692364 45692364 single base substitution G A intron_variant LUSC-KR 19 45697498 45697498 single base substitution G A intron_variant LUSC-KR 19 45700732 45700732 single base substitution G A intron_variant LUSC-KR 19 45705892 45705892 single base substitution C G intron_variant LUSC-KR 19 45706507 45706507 single base substitution G T intron_variant LUSC-KR 19 45707195 45707195 single base substitution A G intron_variant LUSC-KR 19 45709720 45709720 single base substitution T G intron_variant LUSC-KR 19 45709787 45709787 single base substitution C T intron_variant LUSC-KR 19 45714262 45714262 single base substitution C G intron_variant LUSC-KR 19 45716192 45716192 single base substitution G C intron_variant LUSC-KR 19 45716197 45716197 single base substitution A G intron_variant LUSC-KR 19 45717907 45717907 single base substitution G A intron_variant LUSC-KR 19 45724291 45724291 single base substitution G C intron_variant LUSC-KR 19 45727182 45727182 single base substitution G T intron_variant LUSC-KR 19 45727930 45727930 single base substitution G A intron_variant LUSC-KR 19 45728059 45728059 single base substitution T C intron_variant LUSC-KR 19 45728130 45728130 single base substitution C T intron_variant LUSC-KR 19 45730160 45730160 single base substitution A G intron_variant LUSC-KR 19 45730167 45730167 single base substitution A T intron_variant LUSC-KR 19 45731564 45731564 single base substitution G A intron_variant LUSC-KR 19 45737218 45737218 single base substitution A C intron_variant LUSC-KR 19 45740237 45740237 single base substitution T G intron_variant LUSC-KR 19 45745080 45745080 single base substitution C A intron_variant LUSC-KR 19 45747004 45747004 single base substitution C T intron_variant LUSC-KR 19 45748246 45748246 single base substitution G T intron_variant LUSC-KR 19 45748307 45748307 single base substitution C G intron_variant LUSC-KR 19 45749048 45749048 single base substitution C G intron_variant LUSC-KR 19 45749294 45749294 single base substitution C A intron_variant LUSC-KR 19 45751038 45751038 single base substitution T C intron_variant LUSC-KR 19 45751038 45751038 single base substitution T C upstream_gene_variant LUSC-KR 19 45752881 45752881 single base substitution C T intron_variant LUSC-KR 19 45752881 45752881 single base substitution C T upstream_gene_variant LUSC-KR 19 45753653 45753653 single base substitution C A intron_variant LUSC-KR 19 45753653 45753653 single base substitution C A upstream_gene_variant LUSC-KR 19 45753666 45753666 single base substitution C A intron_variant LUSC-KR 19 45753666 45753666 single base substitution C A upstream_gene_variant LUSC-KR 19 45754216 45754216 single base substitution C G intron_variant LUSC-KR 19 45754216 45754216 single base substitution C G upstream_gene_variant LUSC-KR 19 45754437 45754437 single base substitution C T intron_variant LUSC-KR 19 45754437 45754437 single base substitution C T upstream_gene_variant LUSC-KR 19 45756235 45756235 single base substitution C T intron_variant LUSC-KR 19 45758165 45758165 single base substitution G C intron_variant LUSC-KR 19 45758165 45758165 single base substitution G C upstream_gene_variant LUSC-KR 19 45763400 45763400 single base substitution C A intron_variant LUSC-KR 19 45763400 45763400 single base substitution C A upstream_gene_variant LUSC-KR 19 45763952 45763952 single base substitution C T intron_variant LUSC-KR 19 45763952 45763952 single base substitution C T upstream_gene_variant LUSC-KR 19 45770433 45770433 single base substitution C T downstream_gene_variant LUSC-KR 19 45770433 45770433 single base substitution C T intron_variant LUSC-KR 19 45770433 45770433 single base substitution C T upstream_gene_variant LUSC-KR 19 45776617 45776617 single base substitution C T downstream_gene_variant LUSC-KR 19 45776617 45776617 single base substitution C T intron_variant LUSC-KR 19 45779401 45779401 single base substitution C T downstream_gene_variant LUSC-KR 19 45779401 45779401 single base substitution C T intron_variant LUSC-KR 19 45779401 45779401 single base substitution C T upstream_gene_variant LUSC-KR 19 45780711 45780711 single base substitution G T intron_variant LUSC-KR 19 45780711 45780711 single base substitution G T upstream_gene_variant LUSC-KR 19 45781385 45781385 single base substitution C T intron_variant LUSC-KR 19 45781385 45781385 single base substitution C T upstream_gene_variant LUSC-KR 19 45790832 45790832 single base substitution G A 3_prime_UTR_variant LUSC-KR 19 45790832 45790832 single base substitution G A exon_variant LUSC-KR 19 45790832 45790832 single base substitution G A synonymous_variant G468G 1404G>A LUSC-KR 19 45792600 45792600 single base substitution G A downstream_gene_variant LUSC-KR 19 45792600 45792600 single base substitution G A intron_variant LUSC-KR 19 45792601 45792601 single base substitution T C downstream_gene_variant LUSC-KR 19 45792601 45792601 single base substitution T C intron_variant LUSC-KR 19 45797751 45797751 single base substitution G C intron_variant LUSC-KR 19 45800129 45800129 single base substitution G A intron_variant LUSC-KR 19 45807931 45807931 single base substitution T C 3_prime_UTR_variant LUSC-KR 19 45807931 45807931 single base substitution T C downstream_gene_variant LUSC-KR 19 45808142 45808142 single base substitution T G 3_prime_UTR_variant LUSC-KR 19 45808142 45808142 single base substitution T G downstream_gene_variant LUSC-KR 19 45809933 45809933 single base substitution G C downstream_gene_variant LUSC-US 19 45579091 45579091 single base substitution C G upstream_gene_variant LUSC-US 19 45593579 45593579 single base substitution C T intron_variant LUSC-US 19 45593723 45593723 single base substitution G T intron_variant LUSC-US 19 45655260 45655260 single base substitution C A intron_variant LUSC-US 19 45656363 45656363 single base substitution C T intron_variant LUSC-US 19 45667444 45667444 single base substitution T A intron_variant LUSC-US 19 45716584 45716584 single base substitution G A intron_variant LUSC-US 19 45731017 45731017 single base substitution C A intron_variant LUSC-US 19 45781203 45781203 single base substitution G C exon_variant LUSC-US 19 45781203 45781203 single base substitution G C intron_variant LUSC-US 19 45781203 45781203 single base substitution G C missense_variant R270T 809G>C LUSC-US 19 45781203 45781203 single base substitution G C upstream_gene_variant LUSC-US 19 45797675 45797675 single base substitution G T missense_variant E521D 1563G>T LUSC-US 19 45803085 45803085 single base substitution G C missense_variant E632Q 1894G>C LUSC-US 19 45803085 45803085 single base substitution G C synonymous_variant L658L 1974G>C MALY-DE 19 45586927 45586930 deletion of <=200bp ATCT - intron_variant MALY-DE 19 45591567 45591567 single base substitution G A intron_variant MALY-DE 19 45594825 45594825 single base substitution A T intron_variant MALY-DE 19 45596107 45596107 single base substitution A T intron_variant MALY-DE 19 45598746 45598746 single base substitution C T intron_variant MALY-DE 19 45603872 45603872 single base substitution T A intron_variant MALY-DE 19 45606389 45606389 single base substitution C T intron_variant MALY-DE 19 45607340 45607340 single base substitution C T intron_variant MALY-DE 19 45607353 45607353 single base substitution G A intron_variant MALY-DE 19 45609211 45609211 single base substitution G A intron_variant MALY-DE 19 45612970 45612970 single base substitution G A intron_variant MALY-DE 19 45615520 45615520 insertion of <=200bp - A intron_variant MALY-DE 19 45616366 45616366 single base substitution G A intron_variant MALY-DE 19 45616666 45616666 single base substitution A T intron_variant MALY-DE 19 45623697 45623697 single base substitution C T intron_variant MALY-DE 19 45624808 45624808 single base substitution T C intron_variant MALY-DE 19 45628046 45628046 single base substitution C T intron_variant MALY-DE 19 45631345 45631345 single base substitution A C intron_variant MALY-DE 19 45636202 45636202 single base substitution G A intron_variant MALY-DE 19 45637984 45637984 single base substitution A G intron_variant MALY-DE 19 45638654 45638654 single base substitution G A intron_variant MALY-DE 19 45639509 45639509 single base substitution C G intron_variant MALY-DE 19 45642264 45642264 single base substitution T G intron_variant MALY-DE 19 45655643 45655643 single base substitution G A intron_variant MALY-DE 19 45662464 45662464 single base substitution C A intron_variant MALY-DE 19 45668304 45668304 single base substitution G A intron_variant MALY-DE 19 45685495 45685495 single base substitution C T intron_variant MALY-DE 19 45692560 45692560 single base substitution G C intron_variant MALY-DE 19 45694046 45694046 deletion of <=200bp T - intron_variant MALY-DE 19 45706665 45706665 single base substitution G A intron_variant MALY-DE 19 45713992 45713992 single base substitution G A intron_variant MALY-DE 19 45723764 45723764 single base substitution C T intron_variant MALY-DE 19 45730895 45730895 single base substitution T G intron_variant MALY-DE 19 45734183 45734183 deletion of <=200bp T - intron_variant MALY-DE 19 45734225 45734225 single base substitution T C intron_variant MALY-DE 19 45737491 45737491 single base substitution G A intron_variant MALY-DE 19 45740109 45740109 single base substitution T A intron_variant MALY-DE 19 45741424 45741424 single base substitution G A intron_variant MALY-DE 19 45743091 45743091 single base substitution A G intron_variant MALY-DE 19 45743527 45743527 single base substitution T G intron_variant MALY-DE 19 45743544 45743544 single base substitution T A intron_variant MALY-DE 19 45749996 45749996 single base substitution A T intron_variant MALY-DE 19 45749996 45749996 single base substitution A T upstream_gene_variant MALY-DE 19 45750855 45750855 insertion of <=200bp - TTAT intron_variant MALY-DE 19 45750855 45750855 insertion of <=200bp - TTAT upstream_gene_variant MALY-DE 19 45754117 45754117 single base substitution T G intron_variant MALY-DE 19 45754117 45754117 single base substitution T G upstream_gene_variant MALY-DE 19 45756449 45756449 single base substitution A C intron_variant MALY-DE 19 45771710 45771710 single base substitution C T downstream_gene_variant MALY-DE 19 45771710 45771710 single base substitution C T intron_variant MALY-DE 19 45771710 45771710 single base substitution C T upstream_gene_variant MALY-DE 19 45772864 45772864 single base substitution C T downstream_gene_variant MALY-DE 19 45772864 45772864 single base substitution C T intron_variant MALY-DE 19 45772864 45772864 single base substitution C T upstream_gene_variant MALY-DE 19 45776185 45776185 single base substitution G A downstream_gene_variant MALY-DE 19 45776185 45776185 single base substitution G A intron_variant MALY-DE 19 45786695 45786695 deletion of <=200bp T - downstream_gene_variant MALY-DE 19 45786695 45786695 deletion of <=200bp T - intron_variant MALY-DE 19 45799139 45799139 single base substitution G A intron_variant MALY-DE 19 45809832 45809832 single base substitution G A downstream_gene_variant MELA-AU 19 45578786 45578786 single base substitution C T upstream_gene_variant MELA-AU 19 45579131 45579131 single base substitution G A upstream_gene_variant MELA-AU 19 45581482 45581482 single base substitution C T upstream_gene_variant MELA-AU 19 45581484 45581485 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 45581502 45581502 single base substitution G A upstream_gene_variant MELA-AU 19 45581625 45581625 single base substitution G A upstream_gene_variant MELA-AU 19 45581687 45581687 single base substitution G A upstream_gene_variant MELA-AU 19 45581948 45581948 single base substitution C T upstream_gene_variant MELA-AU 19 45582748 45582748 single base substitution T C intron_variant MELA-AU 19 45583526 45583526 single base substitution A G intron_variant MELA-AU 19 45584735 45584735 single base substitution A G intron_variant MELA-AU 19 45584758 45584758 single base substitution C T intron_variant MELA-AU 19 45585220 45585220 single base substitution C T intron_variant MELA-AU 19 45585359 45585359 single base substitution T C intron_variant MELA-AU 19 45587395 45587395 single base substitution G A intron_variant MELA-AU 19 45587636 45587640 deletion of <=200bp AAATT - intron_variant MELA-AU 19 45588013 45588013 deletion of <=200bp T - intron_variant MELA-AU 19 45588377 45588377 single base substitution C A intron_variant MELA-AU 19 45588556 45588557 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45588975 45588975 deletion of <=200bp G - intron_variant MELA-AU 19 45590019 45590019 single base substitution C T intron_variant MELA-AU 19 45590536 45590536 single base substitution G A intron_variant MELA-AU 19 45592663 45592686 deletion of <=200bp ATTGTATTGTTCAAATAATTCCAG - intron_variant MELA-AU 19 45593044 45593044 single base substitution T C intron_variant MELA-AU 19 45594721 45594721 single base substitution G A intron_variant MELA-AU 19 45594944 45594944 single base substitution C G intron_variant MELA-AU 19 45595161 45595161 single base substitution G A intron_variant MELA-AU 19 45597686 45597686 single base substitution A T intron_variant MELA-AU 19 45599108 45599108 single base substitution C T intron_variant MELA-AU 19 45599161 45599161 single base substitution G A intron_variant MELA-AU 19 45601797 45601797 single base substitution G A intron_variant MELA-AU 19 45602319 45602319 single base substitution G A intron_variant MELA-AU 19 45602514 45602515 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45602718 45602718 single base substitution C T intron_variant MELA-AU 19 45602775 45602775 single base substitution G A intron_variant MELA-AU 19 45602921 45602921 single base substitution C T intron_variant MELA-AU 19 45603425 45603425 single base substitution G A intron_variant MELA-AU 19 45603460 45603460 single base substitution A G intron_variant MELA-AU 19 45603517 45603517 single base substitution C T intron_variant MELA-AU 19 45603575 45603575 single base substitution C T intron_variant MELA-AU 19 45604079 45604080 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 19 45604313 45604313 single base substitution C T intron_variant MELA-AU 19 45604529 45604529 single base substitution G A intron_variant MELA-AU 19 45605916 45605916 single base substitution G T intron_variant MELA-AU 19 45605919 45605919 single base substitution C T intron_variant MELA-AU 19 45607039 45607039 single base substitution C T intron_variant MELA-AU 19 45609015 45609015 single base substitution C T intron_variant MELA-AU 19 45610105 45610105 single base substitution C T intron_variant MELA-AU 19 45610301 45610301 single base substitution C T intron_variant MELA-AU 19 45611280 45611281 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 19 45611701 45611701 single base substitution G A intron_variant MELA-AU 19 45611743 45611743 single base substitution G A intron_variant MELA-AU 19 45611934 45611934 single base substitution T C intron_variant MELA-AU 19 45612793 45612793 single base substitution G A intron_variant MELA-AU 19 45612894 45612895 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45613064 45613064 single base substitution C T intron_variant MELA-AU 19 45613826 45613826 single base substitution G A intron_variant MELA-AU 19 45614267 45614267 single base substitution C T intron_variant MELA-AU 19 45615156 45615156 single base substitution C T intron_variant MELA-AU 19 45615415 45615415 single base substitution A G intron_variant MELA-AU 19 45615568 45615568 single base substitution A T intron_variant MELA-AU 19 45615984 45615984 single base substitution C T intron_variant MELA-AU 19 45616011 45616011 single base substitution C T intron_variant MELA-AU 19 45616942 45616942 single base substitution G A intron_variant MELA-AU 19 45617427 45617427 single base substitution G A intron_variant MELA-AU 19 45617610 45617610 single base substitution C T intron_variant MELA-AU 19 45617680 45617680 single base substitution C T intron_variant MELA-AU 19 45617873 45617874 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45618089 45618089 single base substitution A T intron_variant MELA-AU 19 45618130 45618130 single base substitution C T intron_variant MELA-AU 19 45618147 45618147 single base substitution C T intron_variant MELA-AU 19 45618717 45618718 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45618831 45618831 single base substitution C T intron_variant MELA-AU 19 45618834 45618834 single base substitution C T intron_variant MELA-AU 19 45619417 45619417 single base substitution C T intron_variant MELA-AU 19 45619507 45619507 single base substitution G C intron_variant MELA-AU 19 45619938 45619938 single base substitution C T intron_variant MELA-AU 19 45621338 45621338 single base substitution G A intron_variant MELA-AU 19 45621519 45621519 single base substitution C T intron_variant MELA-AU 19 45623725 45623725 single base substitution C T intron_variant MELA-AU 19 45623896 45623896 single base substitution T C intron_variant MELA-AU 19 45624105 45624105 single base substitution C T intron_variant MELA-AU 19 45624980 45624980 single base substitution C T intron_variant MELA-AU 19 45625486 45625486 single base substitution T C intron_variant MELA-AU 19 45625512 45625512 single base substitution C T intron_variant MELA-AU 19 45626501 45626501 single base substitution C T intron_variant MELA-AU 19 45626593 45626593 single base substitution C T intron_variant MELA-AU 19 45626779 45626779 single base substitution T C intron_variant MELA-AU 19 45627475 45627475 single base substitution C T intron_variant MELA-AU 19 45627811 45627811 single base substitution C T intron_variant MELA-AU 19 45628051 45628051 single base substitution T A intron_variant MELA-AU 19 45630537 45630537 single base substitution G A intron_variant MELA-AU 19 45631609 45631609 single base substitution C T intron_variant MELA-AU 19 45632130 45632130 single base substitution C T intron_variant MELA-AU 19 45632315 45632315 single base substitution G A intron_variant MELA-AU 19 45632913 45632913 single base substitution C T intron_variant MELA-AU 19 45633210 45633210 single base substitution C T intron_variant MELA-AU 19 45633684 45633684 single base substitution C T intron_variant MELA-AU 19 45633812 45633813 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 19 45634414 45634414 single base substitution C T intron_variant MELA-AU 19 45634797 45634797 single base substitution C T intron_variant MELA-AU 19 45634859 45634859 single base substitution T C intron_variant MELA-AU 19 45635592 45635592 single base substitution C T intron_variant MELA-AU 19 45635817 45635817 single base substitution C T intron_variant MELA-AU 19 45636046 45636046 single base substitution C G intron_variant MELA-AU 19 45636071 45636071 single base substitution C T intron_variant MELA-AU 19 45638028 45638028 single base substitution A T intron_variant MELA-AU 19 45638337 45638337 single base substitution C T intron_variant MELA-AU 19 45639370 45639370 single base substitution A G intron_variant MELA-AU 19 45640141 45640141 single base substitution C T intron_variant MELA-AU 19 45640710 45640710 single base substitution C G intron_variant MELA-AU 19 45640813 45640813 single base substitution C T intron_variant MELA-AU 19 45641953 45641953 single base substitution C T intron_variant MELA-AU 19 45642104 45642104 single base substitution C T intron_variant MELA-AU 19 45642778 45642778 single base substitution C T intron_variant MELA-AU 19 45642791 45642791 single base substitution C T intron_variant MELA-AU 19 45642899 45642899 single base substitution C T intron_variant MELA-AU 19 45642965 45642965 single base substitution C T intron_variant MELA-AU 19 45643057 45643057 single base substitution G A intron_variant MELA-AU 19 45644136 45644137 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45644597 45644597 single base substitution C T intron_variant MELA-AU 19 45644639 45644639 single base substitution C T intron_variant MELA-AU 19 45644898 45644898 single base substitution C T intron_variant MELA-AU 19 45644931 45644932 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45645129 45645130 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45645133 45645133 single base substitution C T intron_variant MELA-AU 19 45645242 45645242 single base substitution C T intron_variant MELA-AU 19 45645394 45645394 single base substitution C T intron_variant MELA-AU 19 45645736 45645736 single base substitution C T intron_variant MELA-AU 19 45645849 45645849 single base substitution G A intron_variant MELA-AU 19 45645927 45645927 single base substitution C T intron_variant MELA-AU 19 45646847 45646847 single base substitution A T intron_variant MELA-AU 19 45646943 45646943 single base substitution C T intron_variant MELA-AU 19 45647155 45647155 single base substitution C T intron_variant MELA-AU 19 45647200 45647200 single base substitution C T intron_variant MELA-AU 19 45647540 45647541 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 19 45647556 45647557 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45647648 45647648 single base substitution C T intron_variant MELA-AU 19 45647802 45647802 single base substitution C T intron_variant MELA-AU 19 45647924 45647924 single base substitution C T intron_variant MELA-AU 19 45648030 45648030 single base substitution C T intron_variant MELA-AU 19 45648140 45648140 single base substitution A G intron_variant MELA-AU 19 45648186 45648186 single base substitution G A intron_variant MELA-AU 19 45648309 45648309 single base substitution C T intron_variant MELA-AU 19 45648492 45648492 single base substitution C T intron_variant MELA-AU 19 45648733 45648733 single base substitution C T intron_variant MELA-AU 19 45648847 45648847 single base substitution G A intron_variant MELA-AU 19 45648894 45648894 single base substitution C T intron_variant MELA-AU 19 45649151 45649151 single base substitution C T intron_variant MELA-AU 19 45649899 45649900 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45650950 45650950 single base substitution C T intron_variant MELA-AU 19 45650951 45650951 single base substitution C T intron_variant MELA-AU 19 45651367 45651367 single base substitution C T intron_variant MELA-AU 19 45652375 45652375 single base substitution C T intron_variant MELA-AU 19 45652773 45652773 single base substitution T G intron_variant MELA-AU 19 45652947 45652947 single base substitution G A intron_variant MELA-AU 19 45653066 45653066 single base substitution T G intron_variant MELA-AU 19 45653829 45653829 single base substitution C T intron_variant MELA-AU 19 45654069 45654070 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 19 45654090 45654090 single base substitution C T intron_variant MELA-AU 19 45654531 45654531 single base substitution G A intron_variant MELA-AU 19 45655207 45655207 single base substitution C T intron_variant MELA-AU 19 45657392 45657392 single base substitution G T intron_variant MELA-AU 19 45657986 45657986 single base substitution A G intron_variant MELA-AU 19 45658010 45658010 single base substitution G A intron_variant MELA-AU 19 45658020 45658020 single base substitution C A intron_variant MELA-AU 19 45659016 45659016 single base substitution C T intron_variant MELA-AU 19 45659276 45659276 single base substitution C T intron_variant MELA-AU 19 45659534 45659534 single base substitution C T intron_variant MELA-AU 19 45659571 45659572 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45660434 45660434 single base substitution C T intron_variant MELA-AU 19 45661380 45661380 single base substitution C T intron_variant MELA-AU 19 45661504 45661504 single base substitution C T intron_variant MELA-AU 19 45661531 45661531 single base substitution C T intron_variant MELA-AU 19 45661571 45661571 single base substitution C G intron_variant MELA-AU 19 45661611 45661611 single base substitution G A intron_variant MELA-AU 19 45662126 45662126 single base substitution C T intron_variant MELA-AU 19 45662292 45662292 single base substitution G A intron_variant MELA-AU 19 45662335 45662335 single base substitution C T intron_variant MELA-AU 19 45662386 45662386 single base substitution G A intron_variant MELA-AU 19 45663323 45663323 single base substitution C T intron_variant MELA-AU 19 45663805 45663805 single base substitution G A intron_variant MELA-AU 19 45663959 45663959 single base substitution G A intron_variant MELA-AU 19 45664259 45664259 single base substitution C T intron_variant MELA-AU 19 45664424 45664424 single base substitution C T intron_variant MELA-AU 19 45664513 45664513 single base substitution C T intron_variant MELA-AU 19 45664785 45664786 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45665762 45665762 single base substitution G A intron_variant MELA-AU 19 45666000 45666000 single base substitution G A intron_variant MELA-AU 19 45666134 45666134 single base substitution C T intron_variant MELA-AU 19 45666358 45666358 single base substitution C T intron_variant MELA-AU 19 45666591 45666591 single base substitution G A intron_variant MELA-AU 19 45666593 45666593 single base substitution T C intron_variant MELA-AU 19 45666764 45666764 single base substitution G A intron_variant MELA-AU 19 45666998 45666998 single base substitution G A intron_variant MELA-AU 19 45667163 45667163 single base substitution C T intron_variant MELA-AU 19 45667388 45667388 single base substitution G A intron_variant MELA-AU 19 45668277 45668277 single base substitution G A intron_variant MELA-AU 19 45668373 45668373 single base substitution G A intron_variant MELA-AU 19 45668648 45668648 single base substitution C T intron_variant MELA-AU 19 45668770 45668770 single base substitution G A intron_variant MELA-AU 19 45669547 45669547 single base substitution C G intron_variant MELA-AU 19 45670651 45670651 single base substitution G A intron_variant MELA-AU 19 45670736 45670736 single base substitution C A intron_variant MELA-AU 19 45671631 45671631 single base substitution G A intron_variant MELA-AU 19 45671784 45671784 single base substitution G A intron_variant MELA-AU 19 45672144 45672144 single base substitution G A intron_variant MELA-AU 19 45672155 45672156 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45672207 45672207 single base substitution C T intron_variant MELA-AU 19 45672371 45672371 single base substitution G A intron_variant MELA-AU 19 45672755 45672755 single base substitution G A intron_variant MELA-AU 19 45672766 45672766 single base substitution G A intron_variant MELA-AU 19 45672897 45672897 single base substitution G A intron_variant MELA-AU 19 45672915 45672915 single base substitution G A intron_variant MELA-AU 19 45673388 45673388 single base substitution G A intron_variant MELA-AU 19 45673433 45673433 single base substitution C T intron_variant MELA-AU 19 45673643 45673643 single base substitution G A intron_variant MELA-AU 19 45673785 45673785 single base substitution C T intron_variant MELA-AU 19 45673791 45673791 single base substitution C A intron_variant MELA-AU 19 45674139 45674139 single base substitution G A intron_variant MELA-AU 19 45674162 45674162 single base substitution G A intron_variant MELA-AU 19 45674205 45674205 single base substitution G A intron_variant MELA-AU 19 45674243 45674243 single base substitution G A intron_variant MELA-AU 19 45674716 45674716 single base substitution G A intron_variant MELA-AU 19 45674733 45674733 single base substitution G A intron_variant MELA-AU 19 45675005 45675005 single base substitution G A intron_variant MELA-AU 19 45675062 45675062 single base substitution G A intron_variant MELA-AU 19 45676153 45676153 single base substitution G A intron_variant MELA-AU 19 45676293 45676293 single base substitution C T intron_variant MELA-AU 19 45676654 45676654 single base substitution G A intron_variant MELA-AU 19 45677204 45677204 single base substitution C T intron_variant MELA-AU 19 45677318 45677318 single base substitution C T intron_variant MELA-AU 19 45677449 45677449 single base substitution C T intron_variant MELA-AU 19 45677461 45677461 single base substitution G A intron_variant MELA-AU 19 45677766 45677767 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45677776 45677776 single base substitution G A intron_variant MELA-AU 19 45678905 45678905 single base substitution G C intron_variant MELA-AU 19 45678989 45678989 single base substitution G A intron_variant MELA-AU 19 45679000 45679000 single base substitution G A intron_variant MELA-AU 19 45679567 45679567 single base substitution A G intron_variant MELA-AU 19 45679888 45679888 single base substitution G A intron_variant MELA-AU 19 45679922 45679922 single base substitution A G intron_variant MELA-AU 19 45681440 45681440 single base substitution C T intron_variant MELA-AU 19 45681551 45681551 single base substitution C T intron_variant MELA-AU 19 45681566 45681566 single base substitution G A intron_variant MELA-AU 19 45681570 45681570 single base substitution C T intron_variant MELA-AU 19 45681580 45681580 single base substitution C T intron_variant MELA-AU 19 45681614 45681614 single base substitution C T intron_variant MELA-AU 19 45681619 45681619 single base substitution C T intron_variant MELA-AU 19 45681693 45681693 single base substitution G A intron_variant MELA-AU 19 45681822 45681822 single base substitution C T intron_variant MELA-AU 19 45681933 45681933 single base substitution C T intron_variant MELA-AU 19 45681945 45681945 single base substitution C A intron_variant MELA-AU 19 45681950 45681950 single base substitution G A intron_variant MELA-AU 19 45682052 45682052 single base substitution G A intron_variant MELA-AU 19 45683284 45683284 single base substitution C T intron_variant MELA-AU 19 45683788 45683788 single base substitution T C intron_variant MELA-AU 19 45683849 45683849 single base substitution T C intron_variant MELA-AU 19 45684107 45684107 single base substitution C T intron_variant MELA-AU 19 45684945 45684946 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45685084 45685084 single base substitution C T intron_variant MELA-AU 19 45686352 45686352 single base substitution C T intron_variant MELA-AU 19 45687121 45687121 single base substitution C T intron_variant MELA-AU 19 45687368 45687368 single base substitution C T intron_variant MELA-AU 19 45687370 45687370 single base substitution C T intron_variant MELA-AU 19 45687372 45687372 single base substitution C T intron_variant MELA-AU 19 45687376 45687376 single base substitution C T intron_variant MELA-AU 19 45687456 45687456 single base substitution C T intron_variant MELA-AU 19 45687800 45687800 single base substitution G A intron_variant MELA-AU 19 45687840 45687840 single base substitution G A intron_variant MELA-AU 19 45688389 45688389 single base substitution G A intron_variant MELA-AU 19 45689765 45689766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45690497 45690497 single base substitution C T intron_variant MELA-AU 19 45691033 45691033 single base substitution C T intron_variant MELA-AU 19 45691279 45691279 single base substitution C T intron_variant MELA-AU 19 45691595 45691595 single base substitution C T intron_variant MELA-AU 19 45692050 45692050 single base substitution G A intron_variant MELA-AU 19 45692312 45692312 single base substitution C T intron_variant MELA-AU 19 45692646 45692646 single base substitution C T intron_variant MELA-AU 19 45692720 45692720 single base substitution C T intron_variant MELA-AU 19 45692901 45692901 single base substitution C T intron_variant MELA-AU 19 45694268 45694268 single base substitution T C intron_variant MELA-AU 19 45694290 45694290 single base substitution C T intron_variant MELA-AU 19 45694425 45694425 single base substitution G A intron_variant MELA-AU 19 45694484 45694484 single base substitution G A intron_variant MELA-AU 19 45694631 45694631 single base substitution G A intron_variant MELA-AU 19 45694637 45694637 single base substitution C T intron_variant MELA-AU 19 45694714 45694714 single base substitution C T intron_variant MELA-AU 19 45694833 45694833 single base substitution C T intron_variant MELA-AU 19 45694997 45694997 single base substitution C T intron_variant MELA-AU 19 45695326 45695326 single base substitution C T intron_variant MELA-AU 19 45695332 45695332 single base substitution T C intron_variant MELA-AU 19 45695735 45695735 single base substitution C T intron_variant MELA-AU 19 45695758 45695759 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45696074 45696074 single base substitution C T intron_variant MELA-AU 19 45696596 45696596 single base substitution C T intron_variant MELA-AU 19 45696877 45696877 single base substitution G A intron_variant MELA-AU 19 45696921 45696921 single base substitution C T intron_variant MELA-AU 19 45696951 45696951 single base substitution G A intron_variant MELA-AU 19 45697261 45697261 single base substitution C T intron_variant MELA-AU 19 45699111 45699112 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45699278 45699278 single base substitution C T intron_variant MELA-AU 19 45699952 45699952 single base substitution C T intron_variant MELA-AU 19 45700288 45700288 single base substitution C T intron_variant MELA-AU 19 45700314 45700314 single base substitution C T intron_variant MELA-AU 19 45700976 45700976 single base substitution A C intron_variant MELA-AU 19 45701151 45701151 single base substitution C T intron_variant MELA-AU 19 45701423 45701423 single base substitution C T intron_variant MELA-AU 19 45702554 45702555 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45703481 45703481 single base substitution C T intron_variant MELA-AU 19 45703797 45703797 single base substitution G A intron_variant MELA-AU 19 45704050 45704050 single base substitution C T intron_variant MELA-AU 19 45704529 45704529 single base substitution C T intron_variant MELA-AU 19 45705045 45705045 single base substitution C T intron_variant MELA-AU 19 45705307 45705307 single base substitution C T intron_variant MELA-AU 19 45705647 45705647 single base substitution C T intron_variant MELA-AU 19 45705777 45705777 single base substitution C T intron_variant MELA-AU 19 45705919 45705919 single base substitution C T intron_variant MELA-AU 19 45706330 45706330 single base substitution G A intron_variant MELA-AU 19 45706614 45706614 single base substitution C T intron_variant MELA-AU 19 45706722 45706722 single base substitution G A intron_variant MELA-AU 19 45706752 45706752 single base substitution G A intron_variant MELA-AU 19 45706771 45706771 single base substitution C T intron_variant MELA-AU 19 45707145 45707145 single base substitution C T intron_variant MELA-AU 19 45707385 45707385 single base substitution C T intron_variant MELA-AU 19 45707873 45707873 single base substitution C T intron_variant MELA-AU 19 45708078 45708078 single base substitution C T intron_variant MELA-AU 19 45708405 45708405 single base substitution C T intron_variant MELA-AU 19 45708857 45708857 single base substitution C T intron_variant MELA-AU 19 45709019 45709019 single base substitution C T intron_variant MELA-AU 19 45709115 45709115 single base substitution G A intron_variant MELA-AU 19 45709428 45709428 single base substitution A G intron_variant MELA-AU 19 45709964 45709965 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45709976 45709976 single base substitution C T intron_variant MELA-AU 19 45710340 45710340 single base substitution C T intron_variant MELA-AU 19 45710500 45710500 single base substitution C T intron_variant MELA-AU 19 45710629 45710629 single base substitution G A intron_variant MELA-AU 19 45710789 45710789 single base substitution G A intron_variant MELA-AU 19 45710801 45710801 single base substitution G A intron_variant MELA-AU 19 45710831 45710831 single base substitution A C intron_variant MELA-AU 19 45711130 45711131 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 19 45711537 45711537 single base substitution T C intron_variant MELA-AU 19 45711770 45711770 single base substitution G A intron_variant MELA-AU 19 45711778 45711778 single base substitution G A intron_variant MELA-AU 19 45711810 45711810 single base substitution C T intron_variant MELA-AU 19 45712112 45712112 single base substitution G A intron_variant MELA-AU 19 45712460 45712460 single base substitution C G intron_variant MELA-AU 19 45713006 45713006 single base substitution C T intron_variant MELA-AU 19 45713080 45713080 single base substitution C T intron_variant MELA-AU 19 45713853 45713853 single base substitution G A intron_variant MELA-AU 19 45714950 45714950 single base substitution C T intron_variant MELA-AU 19 45715165 45715165 single base substitution C T intron_variant MELA-AU 19 45715192 45715192 single base substitution C T intron_variant MELA-AU 19 45716460 45716460 single base substitution G A intron_variant MELA-AU 19 45716491 45716492 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45717015 45717015 single base substitution C T intron_variant MELA-AU 19 45717032 45717032 single base substitution C G intron_variant MELA-AU 19 45717690 45717690 single base substitution G A intron_variant MELA-AU 19 45717954 45717954 single base substitution C T intron_variant MELA-AU 19 45717993 45717993 single base substitution G A intron_variant MELA-AU 19 45718021 45718021 single base substitution C T intron_variant MELA-AU 19 45718277 45718277 single base substitution G A intron_variant MELA-AU 19 45718646 45718646 single base substitution T G intron_variant MELA-AU 19 45718889 45718889 single base substitution C T intron_variant MELA-AU 19 45719096 45719096 single base substitution C T intron_variant MELA-AU 19 45719341 45719341 single base substitution G A intron_variant MELA-AU 19 45719581 45719581 single base substitution C T intron_variant MELA-AU 19 45719592 45719592 single base substitution G A intron_variant MELA-AU 19 45720108 45720108 single base substitution C T intron_variant MELA-AU 19 45720351 45720351 single base substitution G A intron_variant MELA-AU 19 45721874 45721874 single base substitution G A intron_variant MELA-AU 19 45722050 45722050 single base substitution G A intron_variant MELA-AU 19 45722050 45722051 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45722092 45722092 single base substitution A T intron_variant MELA-AU 19 45722443 45722443 single base substitution C T intron_variant MELA-AU 19 45722485 45722485 single base substitution C A intron_variant MELA-AU 19 45722509 45722509 single base substitution T C intron_variant MELA-AU 19 45722869 45722869 single base substitution T A intron_variant MELA-AU 19 45722941 45722941 single base substitution C T intron_variant MELA-AU 19 45723010 45723011 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45723764 45723764 single base substitution C T intron_variant MELA-AU 19 45723835 45723835 single base substitution C T intron_variant MELA-AU 19 45724107 45724107 single base substitution G A intron_variant MELA-AU 19 45724304 45724304 single base substitution G A intron_variant MELA-AU 19 45724917 45724917 single base substitution T A intron_variant MELA-AU 19 45725009 45725009 single base substitution G A intron_variant MELA-AU 19 45725041 45725041 single base substitution G A intron_variant MELA-AU 19 45725043 45725043 single base substitution C T intron_variant MELA-AU 19 45725565 45725565 single base substitution C T intron_variant MELA-AU 19 45725673 45725673 single base substitution G A intron_variant MELA-AU 19 45725932 45725932 single base substitution G A intron_variant MELA-AU 19 45726234 45726234 single base substitution G A intron_variant MELA-AU 19 45726370 45726370 single base substitution G A intron_variant MELA-AU 19 45726479 45726479 single base substitution C T intron_variant MELA-AU 19 45726664 45726664 single base substitution G A intron_variant MELA-AU 19 45726708 45726708 single base substitution C T intron_variant MELA-AU 19 45726870 45726870 single base substitution G A intron_variant MELA-AU 19 45727135 45727135 single base substitution C T intron_variant MELA-AU 19 45728509 45728509 single base substitution C T intron_variant MELA-AU 19 45728647 45728647 single base substitution C T intron_variant MELA-AU 19 45728979 45728979 single base substitution C T intron_variant MELA-AU 19 45729234 45729235 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45729393 45729393 single base substitution C T intron_variant MELA-AU 19 45729588 45729588 single base substitution G A intron_variant MELA-AU 19 45730074 45730074 single base substitution G A intron_variant MELA-AU 19 45730102 45730102 single base substitution C T intron_variant MELA-AU 19 45730136 45730136 single base substitution G A intron_variant MELA-AU 19 45730145 45730145 single base substitution G A intron_variant MELA-AU 19 45730287 45730287 single base substitution G A intron_variant MELA-AU 19 45730323 45730323 single base substitution T C intron_variant MELA-AU 19 45730353 45730353 single base substitution G A intron_variant MELA-AU 19 45730483 45730483 single base substitution C T intron_variant MELA-AU 19 45730601 45730601 single base substitution G A intron_variant MELA-AU 19 45730892 45730892 single base substitution C T intron_variant MELA-AU 19 45730953 45730953 single base substitution G A intron_variant MELA-AU 19 45730977 45730977 single base substitution A G intron_variant MELA-AU 19 45731170 45731170 single base substitution G A intron_variant MELA-AU 19 45731276 45731276 single base substitution C T intron_variant MELA-AU 19 45731290 45731290 single base substitution C T intron_variant MELA-AU 19 45731302 45731302 single base substitution G A intron_variant MELA-AU 19 45731386 45731386 single base substitution C T intron_variant MELA-AU 19 45731398 45731398 single base substitution C T intron_variant MELA-AU 19 45731596 45731596 single base substitution C T intron_variant MELA-AU 19 45731805 45731806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45732147 45732147 single base substitution G A intron_variant MELA-AU 19 45732336 45732336 single base substitution T A intron_variant MELA-AU 19 45733047 45733047 single base substitution G A intron_variant MELA-AU 19 45733240 45733240 single base substitution C T intron_variant MELA-AU 19 45733353 45733353 single base substitution G A intron_variant MELA-AU 19 45733832 45733832 single base substitution C T intron_variant MELA-AU 19 45734005 45734005 single base substitution C T intron_variant MELA-AU 19 45734105 45734105 single base substitution G A intron_variant MELA-AU 19 45734370 45734370 single base substitution C T intron_variant MELA-AU 19 45734498 45734498 single base substitution A G intron_variant MELA-AU 19 45734895 45734895 single base substitution C T intron_variant MELA-AU 19 45734910 45734910 single base substitution G A intron_variant MELA-AU 19 45734911 45734911 single base substitution G A intron_variant MELA-AU 19 45734917 45734917 single base substitution G A intron_variant MELA-AU 19 45734918 45734918 single base substitution G A intron_variant MELA-AU 19 45734976 45734976 single base substitution C T intron_variant MELA-AU 19 45734980 45734980 single base substitution C T intron_variant MELA-AU 19 45735157 45735157 single base substitution G A intron_variant MELA-AU 19 45735590 45735590 single base substitution C T intron_variant MELA-AU 19 45735683 45735683 single base substitution C T intron_variant MELA-AU 19 45736112 45736112 single base substitution G A intron_variant MELA-AU 19 45736239 45736239 single base substitution C T intron_variant MELA-AU 19 45736256 45736256 single base substitution C T intron_variant MELA-AU 19 45736262 45736262 single base substitution T C intron_variant MELA-AU 19 45736407 45736407 single base substitution G A intron_variant MELA-AU 19 45736449 45736450 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45736468 45736468 single base substitution C T intron_variant MELA-AU 19 45737019 45737019 single base substitution C T intron_variant MELA-AU 19 45737126 45737126 single base substitution C T intron_variant MELA-AU 19 45737147 45737147 single base substitution G A intron_variant MELA-AU 19 45737262 45737262 single base substitution G A intron_variant MELA-AU 19 45737372 45737372 single base substitution C T intron_variant MELA-AU 19 45738695 45738696 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45738996 45738996 single base substitution G A intron_variant MELA-AU 19 45739037 45739037 single base substitution C T intron_variant MELA-AU 19 45739052 45739052 single base substitution G A intron_variant MELA-AU 19 45739543 45739543 single base substitution G A intron_variant MELA-AU 19 45739953 45739953 single base substitution G A intron_variant MELA-AU 19 45739964 45739964 single base substitution G A intron_variant MELA-AU 19 45740189 45740190 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45740221 45740221 single base substitution C T intron_variant MELA-AU 19 45740361 45740361 single base substitution G A intron_variant MELA-AU 19 45740382 45740382 single base substitution G A intron_variant MELA-AU 19 45740465 45740465 single base substitution G A intron_variant MELA-AU 19 45740534 45740534 single base substitution G A intron_variant MELA-AU 19 45740686 45740686 single base substitution G A intron_variant MELA-AU 19 45740817 45740817 single base substitution G A intron_variant MELA-AU 19 45740886 45740886 single base substitution G A intron_variant MELA-AU 19 45740947 45740947 single base substitution G A intron_variant MELA-AU 19 45740951 45740951 single base substitution G A intron_variant MELA-AU 19 45741129 45741129 single base substitution C T intron_variant MELA-AU 19 45741719 45741719 single base substitution G A intron_variant MELA-AU 19 45741930 45741930 single base substitution G A intron_variant MELA-AU 19 45741969 45741969 single base substitution C T intron_variant MELA-AU 19 45742107 45742107 single base substitution G A intron_variant MELA-AU 19 45742182 45742182 single base substitution C T intron_variant MELA-AU 19 45742195 45742195 single base substitution C T intron_variant MELA-AU 19 45742226 45742226 single base substitution C T intron_variant MELA-AU 19 45742506 45742506 single base substitution C T intron_variant MELA-AU 19 45742638 45742638 single base substitution G A intron_variant MELA-AU 19 45742731 45742731 single base substitution C T intron_variant MELA-AU 19 45742869 45742869 single base substitution C T intron_variant MELA-AU 19 45742936 45742936 single base substitution A C intron_variant MELA-AU 19 45743080 45743080 single base substitution G A intron_variant MELA-AU 19 45743137 45743137 single base substitution G A intron_variant MELA-AU 19 45743138 45743138 single base substitution G A intron_variant MELA-AU 19 45743147 45743147 single base substitution C T intron_variant MELA-AU 19 45743261 45743261 single base substitution C T intron_variant MELA-AU 19 45743540 45743540 single base substitution A T intron_variant MELA-AU 19 45743602 45743602 single base substitution C T intron_variant MELA-AU 19 45743687 45743687 single base substitution C T intron_variant MELA-AU 19 45743766 45743766 single base substitution C T intron_variant MELA-AU 19 45743873 45743873 insertion of <=200bp - GCC intron_variant MELA-AU 19 45744422 45744422 single base substitution G A intron_variant MELA-AU 19 45744434 45744434 single base substitution C T intron_variant MELA-AU 19 45744482 45744482 single base substitution C T intron_variant MELA-AU 19 45744914 45744914 single base substitution A C intron_variant MELA-AU 19 45744999 45744999 single base substitution G A intron_variant MELA-AU 19 45745010 45745010 single base substitution C G intron_variant MELA-AU 19 45745352 45745352 single base substitution G A intron_variant MELA-AU 19 45746184 45746184 single base substitution C T intron_variant MELA-AU 19 45746457 45746457 single base substitution C T intron_variant MELA-AU 19 45746540 45746540 single base substitution G A intron_variant MELA-AU 19 45747191 45747191 single base substitution C T intron_variant MELA-AU 19 45747420 45747420 single base substitution C T intron_variant MELA-AU 19 45747586 45747586 single base substitution C T intron_variant MELA-AU 19 45747642 45747642 single base substitution C T intron_variant MELA-AU 19 45747662 45747662 single base substitution C T intron_variant MELA-AU 19 45747663 45747663 single base substitution G A intron_variant MELA-AU 19 45747867 45747867 single base substitution C T intron_variant MELA-AU 19 45747868 45747868 single base substitution C T intron_variant MELA-AU 19 45749080 45749080 single base substitution G A intron_variant MELA-AU 19 45749175 45749175 single base substitution C T intron_variant MELA-AU 19 45749250 45749250 single base substitution C T intron_variant MELA-AU 19 45749378 45749378 single base substitution C T intron_variant MELA-AU 19 45749697 45749697 single base substitution C T intron_variant MELA-AU 19 45749697 45749697 single base substitution C T upstream_gene_variant MELA-AU 19 45749756 45749756 single base substitution T C intron_variant MELA-AU 19 45749756 45749756 single base substitution T C upstream_gene_variant MELA-AU 19 45749861 45749861 single base substitution A G intron_variant MELA-AU 19 45749861 45749861 single base substitution A G upstream_gene_variant MELA-AU 19 45750734 45750734 single base substitution G A intron_variant MELA-AU 19 45750734 45750734 single base substitution G A upstream_gene_variant MELA-AU 19 45750796 45750796 single base substitution G A intron_variant MELA-AU 19 45750796 45750796 single base substitution G A upstream_gene_variant MELA-AU 19 45750928 45750928 single base substitution G C intron_variant MELA-AU 19 45750928 45750928 single base substitution G C upstream_gene_variant MELA-AU 19 45751039 45751039 single base substitution T C intron_variant MELA-AU 19 45751039 45751039 single base substitution T C upstream_gene_variant MELA-AU 19 45752088 45752088 single base substitution C T intron_variant MELA-AU 19 45752088 45752088 single base substitution C T upstream_gene_variant MELA-AU 19 45752095 45752095 single base substitution C T intron_variant MELA-AU 19 45752095 45752095 single base substitution C T upstream_gene_variant MELA-AU 19 45752125 45752125 single base substitution C T intron_variant MELA-AU 19 45752125 45752125 single base substitution C T upstream_gene_variant MELA-AU 19 45753380 45753380 single base substitution C T intron_variant MELA-AU 19 45753380 45753380 single base substitution C T upstream_gene_variant MELA-AU 19 45753419 45753419 single base substitution G A intron_variant MELA-AU 19 45753419 45753419 single base substitution G A upstream_gene_variant MELA-AU 19 45753706 45753706 single base substitution C T intron_variant MELA-AU 19 45753706 45753706 single base substitution C T upstream_gene_variant MELA-AU 19 45753813 45753813 single base substitution G A intron_variant MELA-AU 19 45753813 45753813 single base substitution G A upstream_gene_variant MELA-AU 19 45754004 45754004 single base substitution G A intron_variant MELA-AU 19 45754004 45754004 single base substitution G A upstream_gene_variant MELA-AU 19 45755040 45755040 single base substitution T A intron_variant MELA-AU 19 45755097 45755097 single base substitution C T intron_variant MELA-AU 19 45755353 45755353 single base substitution C T intron_variant MELA-AU 19 45756088 45756088 single base substitution C T intron_variant MELA-AU 19 45756409 45756409 single base substitution C T intron_variant MELA-AU 19 45757082 45757082 single base substitution C T intron_variant MELA-AU 19 45757240 45757240 single base substitution C T intron_variant MELA-AU 19 45757240 45757240 single base substitution C T upstream_gene_variant MELA-AU 19 45757413 45757413 single base substitution G A intron_variant MELA-AU 19 45757413 45757413 single base substitution G A upstream_gene_variant MELA-AU 19 45757522 45757522 single base substitution C T intron_variant MELA-AU 19 45757522 45757522 single base substitution C T upstream_gene_variant MELA-AU 19 45757686 45757686 single base substitution C T intron_variant MELA-AU 19 45757686 45757686 single base substitution C T upstream_gene_variant MELA-AU 19 45757767 45757767 single base substitution C T intron_variant MELA-AU 19 45757767 45757767 single base substitution C T upstream_gene_variant MELA-AU 19 45757777 45757777 single base substitution C T intron_variant MELA-AU 19 45757777 45757777 single base substitution C T upstream_gene_variant MELA-AU 19 45758265 45758266 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 19 45758265 45758266 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 19 45759577 45759577 single base substitution C T intron_variant MELA-AU 19 45759577 45759577 single base substitution C T upstream_gene_variant MELA-AU 19 45761716 45761716 single base substitution C T intron_variant MELA-AU 19 45761716 45761716 single base substitution C T upstream_gene_variant MELA-AU 19 45761841 45761841 single base substitution C T intron_variant MELA-AU 19 45761841 45761841 single base substitution C T upstream_gene_variant MELA-AU 19 45761982 45761982 single base substitution G C intron_variant MELA-AU 19 45761982 45761982 single base substitution G C upstream_gene_variant MELA-AU 19 45762068 45762068 single base substitution G A intron_variant MELA-AU 19 45762068 45762068 single base substitution G A upstream_gene_variant MELA-AU 19 45762119 45762119 single base substitution C T intron_variant MELA-AU 19 45762119 45762119 single base substitution C T upstream_gene_variant MELA-AU 19 45762469 45762469 single base substitution G A intron_variant MELA-AU 19 45762469 45762469 single base substitution G A upstream_gene_variant MELA-AU 19 45763271 45763271 single base substitution G A intron_variant MELA-AU 19 45763271 45763271 single base substitution G A upstream_gene_variant MELA-AU 19 45763434 45763435 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45763434 45763435 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 45764633 45764633 single base substitution T C intron_variant MELA-AU 19 45764633 45764633 single base substitution T C upstream_gene_variant MELA-AU 19 45764654 45764654 single base substitution C T intron_variant MELA-AU 19 45764654 45764654 single base substitution C T upstream_gene_variant MELA-AU 19 45765105 45765105 single base substitution C T intron_variant MELA-AU 19 45765105 45765105 single base substitution C T upstream_gene_variant MELA-AU 19 45765129 45765129 single base substitution C T intron_variant MELA-AU 19 45765129 45765129 single base substitution C T upstream_gene_variant MELA-AU 19 45765612 45765612 single base substitution G A intron_variant MELA-AU 19 45765612 45765612 single base substitution G A upstream_gene_variant MELA-AU 19 45765824 45765824 single base substitution C T intron_variant MELA-AU 19 45765824 45765824 single base substitution C T upstream_gene_variant MELA-AU 19 45765983 45765983 single base substitution C T intron_variant MELA-AU 19 45765983 45765983 single base substitution C T upstream_gene_variant MELA-AU 19 45766017 45766017 single base substitution C T intron_variant MELA-AU 19 45766017 45766017 single base substitution C T upstream_gene_variant MELA-AU 19 45766464 45766464 single base substitution C T intron_variant MELA-AU 19 45766464 45766464 single base substitution C T upstream_gene_variant MELA-AU 19 45766558 45766558 single base substitution C T intron_variant MELA-AU 19 45766558 45766558 single base substitution C T upstream_gene_variant MELA-AU 19 45766584 45766584 single base substitution G A 5_prime_UTR_variant MELA-AU 19 45766584 45766584 single base substitution G A exon_variant MELA-AU 19 45766584 45766584 single base substitution G A intron_variant MELA-AU 19 45766584 45766584 single base substitution G A missense_variant R105Q 314G>A MELA-AU 19 45766584 45766584 single base substitution G A upstream_gene_variant MELA-AU 19 45766591 45766591 single base substitution C T 5_prime_UTR_variant MELA-AU 19 45766591 45766591 single base substitution C T exon_variant MELA-AU 19 45766591 45766591 single base substitution C T intron_variant MELA-AU 19 45766591 45766591 single base substitution C T synonymous_variant V107V 321C>T MELA-AU 19 45766591 45766591 single base substitution C T upstream_gene_variant MELA-AU 19 45766797 45766797 single base substitution C T intron_variant MELA-AU 19 45766797 45766797 single base substitution C T upstream_gene_variant MELA-AU 19 45766807 45766807 single base substitution C T intron_variant MELA-AU 19 45766807 45766807 single base substitution C T upstream_gene_variant MELA-AU 19 45766937 45766937 single base substitution T C intron_variant MELA-AU 19 45766937 45766937 single base substitution T C upstream_gene_variant MELA-AU 19 45767083 45767084 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45767083 45767084 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 45767111 45767111 single base substitution G A intron_variant MELA-AU 19 45767111 45767111 single base substitution G A upstream_gene_variant MELA-AU 19 45767307 45767307 single base substitution C T intron_variant MELA-AU 19 45767307 45767307 single base substitution C T upstream_gene_variant MELA-AU 19 45767312 45767312 single base substitution G A intron_variant MELA-AU 19 45767312 45767312 single base substitution G A upstream_gene_variant MELA-AU 19 45768122 45768122 single base substitution C T exon_variant MELA-AU 19 45768122 45768122 single base substitution C T intron_variant MELA-AU 19 45768122 45768122 single base substitution C T missense_variant S149L 446C>T MELA-AU 19 45768122 45768122 single base substitution C T missense_variant S40L 119C>T MELA-AU 19 45768367 45768368 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45769469 45769469 single base substitution C T intron_variant MELA-AU 19 45769669 45769669 single base substitution C T downstream_gene_variant MELA-AU 19 45769669 45769669 single base substitution C T intron_variant MELA-AU 19 45770689 45770689 single base substitution C T downstream_gene_variant MELA-AU 19 45770689 45770689 single base substitution C T intron_variant MELA-AU 19 45770689 45770689 single base substitution C T upstream_gene_variant MELA-AU 19 45771268 45771268 single base substitution G A downstream_gene_variant MELA-AU 19 45771268 45771268 single base substitution G A intron_variant MELA-AU 19 45771268 45771268 single base substitution G A upstream_gene_variant MELA-AU 19 45772192 45772192 single base substitution C T downstream_gene_variant MELA-AU 19 45772192 45772192 single base substitution C T intron_variant MELA-AU 19 45772192 45772192 single base substitution C T upstream_gene_variant MELA-AU 19 45772201 45772201 single base substitution C T downstream_gene_variant MELA-AU 19 45772201 45772201 single base substitution C T intron_variant MELA-AU 19 45772201 45772201 single base substitution C T upstream_gene_variant MELA-AU 19 45772254 45772254 single base substitution G A downstream_gene_variant MELA-AU 19 45772254 45772254 single base substitution G A intron_variant MELA-AU 19 45772254 45772254 single base substitution G A upstream_gene_variant MELA-AU 19 45772531 45772531 single base substitution G A downstream_gene_variant MELA-AU 19 45772531 45772531 single base substitution G A intron_variant MELA-AU 19 45772531 45772531 single base substitution G A upstream_gene_variant MELA-AU 19 45772784 45772784 single base substitution G T downstream_gene_variant MELA-AU 19 45772784 45772784 single base substitution G T intron_variant MELA-AU 19 45772784 45772784 single base substitution G T upstream_gene_variant MELA-AU 19 45773517 45773517 single base substitution G A downstream_gene_variant MELA-AU 19 45773517 45773517 single base substitution G A intron_variant MELA-AU 19 45773517 45773517 single base substitution G A upstream_gene_variant MELA-AU 19 45773639 45773639 single base substitution T A downstream_gene_variant MELA-AU 19 45773639 45773639 single base substitution T A intron_variant MELA-AU 19 45773639 45773639 single base substitution T A upstream_gene_variant MELA-AU 19 45774285 45774286 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 45774285 45774286 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45774285 45774286 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 45774501 45774501 single base substitution C A downstream_gene_variant MELA-AU 19 45774501 45774501 single base substitution C A intron_variant MELA-AU 19 45774501 45774501 single base substitution C A upstream_gene_variant MELA-AU 19 45774822 45774822 single base substitution G A exon_variant MELA-AU 19 45774822 45774822 single base substitution G A synonymous_variant T214T 642G>A MELA-AU 19 45775032 45775032 single base substitution C T downstream_gene_variant MELA-AU 19 45775032 45775032 single base substitution C T intron_variant MELA-AU 19 45775242 45775242 single base substitution C T downstream_gene_variant MELA-AU 19 45775242 45775242 single base substitution C T intron_variant MELA-AU 19 45776377 45776377 single base substitution T A downstream_gene_variant MELA-AU 19 45776377 45776377 single base substitution T A intron_variant MELA-AU 19 45777132 45777132 single base substitution C T downstream_gene_variant MELA-AU 19 45777132 45777132 single base substitution C T intron_variant MELA-AU 19 45777287 45777287 single base substitution C T downstream_gene_variant MELA-AU 19 45777287 45777287 single base substitution C T intron_variant MELA-AU 19 45777313 45777313 single base substitution C T downstream_gene_variant MELA-AU 19 45777313 45777313 single base substitution C T intron_variant MELA-AU 19 45777333 45777333 single base substitution C T downstream_gene_variant MELA-AU 19 45777333 45777333 single base substitution C T intron_variant MELA-AU 19 45777722 45777722 single base substitution C G downstream_gene_variant MELA-AU 19 45777722 45777722 single base substitution C G intron_variant MELA-AU 19 45778513 45778513 single base substitution C T downstream_gene_variant MELA-AU 19 45778513 45778513 single base substitution C T intron_variant MELA-AU 19 45778513 45778513 single base substitution C T upstream_gene_variant MELA-AU 19 45779160 45779160 single base substitution C T downstream_gene_variant MELA-AU 19 45779160 45779160 single base substitution C T intron_variant MELA-AU 19 45779160 45779160 single base substitution C T upstream_gene_variant MELA-AU 19 45779918 45779918 single base substitution C T downstream_gene_variant MELA-AU 19 45779918 45779918 single base substitution C T intron_variant MELA-AU 19 45779918 45779918 single base substitution C T upstream_gene_variant MELA-AU 19 45779978 45779979 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45779978 45779979 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 45780439 45780439 single base substitution G A intron_variant MELA-AU 19 45780439 45780439 single base substitution G A upstream_gene_variant MELA-AU 19 45780550 45780550 single base substitution G A intron_variant MELA-AU 19 45780550 45780550 single base substitution G A upstream_gene_variant MELA-AU 19 45780770 45780770 single base substitution C T intron_variant MELA-AU 19 45780770 45780770 single base substitution C T upstream_gene_variant MELA-AU 19 45780973 45780973 single base substitution T C intron_variant MELA-AU 19 45780973 45780973 single base substitution T C upstream_gene_variant MELA-AU 19 45780976 45780976 single base substitution G A intron_variant MELA-AU 19 45780976 45780976 single base substitution G A upstream_gene_variant MELA-AU 19 45781220 45781220 single base substitution C T exon_variant MELA-AU 19 45781220 45781220 single base substitution C T intron_variant MELA-AU 19 45781220 45781220 single base substitution C T missense_variant P276S 826C>T MELA-AU 19 45781220 45781220 single base substitution C T upstream_gene_variant MELA-AU 19 45781609 45781609 single base substitution C T intron_variant MELA-AU 19 45781609 45781609 single base substitution C T upstream_gene_variant MELA-AU 19 45781845 45781846 multiple base substitution (>=2bp and <=200bp) GG TA 3_prime_UTR_variant MELA-AU 19 45781845 45781846 multiple base substitution (>=2bp and <=200bp) GG TA exon_variant MELA-AU 19 45781845 45781846 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 19 45781845 45781846 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant EE326DK MELA-AU 19 45781845 45781846 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 19 45782098 45782099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45782098 45782099 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 45783440 45783440 single base substitution C T exon_variant MELA-AU 19 45783440 45783440 single base substitution C T intron_variant MELA-AU 19 45783633 45783633 single base substitution G A exon_variant MELA-AU 19 45783633 45783633 single base substitution G A splice_region_variant MELA-AU 19 45785236 45785236 single base substitution C T downstream_gene_variant MELA-AU 19 45785236 45785236 single base substitution C T intron_variant MELA-AU 19 45786069 45786069 single base substitution G A downstream_gene_variant MELA-AU 19 45786069 45786069 single base substitution G A intron_variant MELA-AU 19 45786218 45786218 single base substitution C T downstream_gene_variant MELA-AU 19 45786218 45786218 single base substitution C T intron_variant MELA-AU 19 45786500 45786500 single base substitution C T downstream_gene_variant MELA-AU 19 45786500 45786500 single base substitution C T intron_variant MELA-AU 19 45786621 45786621 single base substitution C T downstream_gene_variant MELA-AU 19 45786621 45786621 single base substitution C T intron_variant MELA-AU 19 45786709 45786709 single base substitution C T downstream_gene_variant MELA-AU 19 45786709 45786709 single base substitution C T intron_variant MELA-AU 19 45786882 45786882 single base substitution C T downstream_gene_variant MELA-AU 19 45786882 45786882 single base substitution C T intron_variant MELA-AU 19 45786900 45786900 single base substitution C T downstream_gene_variant MELA-AU 19 45786900 45786900 single base substitution C T intron_variant MELA-AU 19 45789258 45789258 single base substitution A G intron_variant MELA-AU 19 45789363 45789363 single base substitution G A intron_variant MELA-AU 19 45790296 45790296 single base substitution T C intron_variant MELA-AU 19 45790300 45790300 single base substitution C T intron_variant MELA-AU 19 45790388 45790389 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45790840 45790840 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45790840 45790840 single base substitution C T exon_variant MELA-AU 19 45790840 45790840 single base substitution C T missense_variant P471L 1412C>T MELA-AU 19 45790983 45790983 single base substitution C T downstream_gene_variant MELA-AU 19 45790983 45790983 single base substitution C T exon_variant MELA-AU 19 45790983 45790983 single base substitution C T intron_variant MELA-AU 19 45792272 45792272 single base substitution G C downstream_gene_variant MELA-AU 19 45792272 45792272 single base substitution G C intron_variant MELA-AU 19 45792304 45792304 single base substitution G A downstream_gene_variant MELA-AU 19 45792304 45792304 single base substitution G A intron_variant MELA-AU 19 45792528 45792528 single base substitution C T downstream_gene_variant MELA-AU 19 45792528 45792528 single base substitution C T intron_variant MELA-AU 19 45793435 45793435 single base substitution C T downstream_gene_variant MELA-AU 19 45793435 45793435 single base substitution C T intron_variant MELA-AU 19 45793571 45793571 single base substitution C T downstream_gene_variant MELA-AU 19 45793571 45793571 single base substitution C T intron_variant MELA-AU 19 45794633 45794633 single base substitution G A downstream_gene_variant MELA-AU 19 45794633 45794633 single base substitution G A intron_variant MELA-AU 19 45794730 45794730 single base substitution C T downstream_gene_variant MELA-AU 19 45794730 45794730 single base substitution C T intron_variant MELA-AU 19 45795243 45795243 single base substitution C T downstream_gene_variant MELA-AU 19 45795243 45795243 single base substitution C T intron_variant MELA-AU 19 45795482 45795482 single base substitution G A downstream_gene_variant MELA-AU 19 45795482 45795482 single base substitution G A intron_variant MELA-AU 19 45796512 45796512 single base substitution G A downstream_gene_variant MELA-AU 19 45796512 45796512 single base substitution G A intron_variant MELA-AU 19 45797323 45797323 single base substitution G A intron_variant MELA-AU 19 45797342 45797342 single base substitution C T intron_variant MELA-AU 19 45797370 45797370 single base substitution C T intron_variant MELA-AU 19 45797494 45797494 single base substitution C T intron_variant MELA-AU 19 45798611 45798611 single base substitution C T intron_variant MELA-AU 19 45799339 45799339 single base substitution C T intron_variant MELA-AU 19 45799596 45799596 single base substitution T C intron_variant MELA-AU 19 45800043 45800043 single base substitution C T intron_variant MELA-AU 19 45800068 45800068 single base substitution G C intron_variant MELA-AU 19 45800381 45800381 single base substitution C T intron_variant MELA-AU 19 45800459 45800459 single base substitution T C intron_variant MELA-AU 19 45800474 45800474 single base substitution C T intron_variant MELA-AU 19 45800825 45800825 single base substitution C T intron_variant MELA-AU 19 45800988 45800989 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant PP551PS MELA-AU 19 45801162 45801162 single base substitution C T synonymous_variant P609P 1827C>T MELA-AU 19 45801642 45801642 single base substitution C T intron_variant MELA-AU 19 45801928 45801928 single base substitution C T intron_variant MELA-AU 19 45802565 45802565 single base substitution C T intron_variant MELA-AU 19 45802859 45802859 single base substitution C T intron_variant MELA-AU 19 45802923 45802923 single base substitution G A intron_variant MELA-AU 19 45803025 45803025 single base substitution C T intron_variant MELA-AU 19 45803053 45803053 single base substitution C T intron_variant MELA-AU 19 45803118 45803118 single base substitution G A splice_region_variant MELA-AU 19 45803154 45803154 single base substitution C T intron_variant MELA-AU 19 45803198 45803198 single base substitution G A intron_variant MELA-AU 19 45803636 45803636 single base substitution C T intron_variant MELA-AU 19 45804994 45804994 single base substitution G A intron_variant MELA-AU 19 45805091 45805091 single base substitution C A intron_variant MELA-AU 19 45805482 45805482 single base substitution C T intron_variant MELA-AU 19 45805582 45805582 single base substitution C T intron_variant MELA-AU 19 45805678 45805678 single base substitution C T stop_gained R657* 1969C>T MELA-AU 19 45805678 45805678 single base substitution C T synonymous_variant S683S 2049C>T MELA-AU 19 45805845 45805845 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45805845 45805845 single base substitution C T synonymous_variant F712F 2136C>T MELA-AU 19 45805908 45805908 single base substitution G A 3_prime_UTR_variant MELA-AU 19 45805908 45805908 single base substitution G A synonymous_variant A733A 2199G>A MELA-AU 19 45805913 45805913 single base substitution C G 3_prime_UTR_variant MELA-AU 19 45805913 45805913 single base substitution C G missense_variant T735S 2204C>G MELA-AU 19 45806208 45806208 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45806293 45806293 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45806400 45806400 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45806407 45806407 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45806410 45806410 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45806507 45806507 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45806719 45806719 single base substitution G A 3_prime_UTR_variant MELA-AU 19 45806793 45806793 single base substitution G A 3_prime_UTR_variant MELA-AU 19 45806827 45806827 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45807022 45807022 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45807022 45807022 single base substitution C T downstream_gene_variant MELA-AU 19 45807542 45807543 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 19 45807542 45807543 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 45807628 45807628 single base substitution C G 3_prime_UTR_variant MELA-AU 19 45807628 45807628 single base substitution C G downstream_gene_variant MELA-AU 19 45807644 45807644 single base substitution T C 3_prime_UTR_variant MELA-AU 19 45807644 45807644 single base substitution T C downstream_gene_variant MELA-AU 19 45807865 45807865 single base substitution C T 3_prime_UTR_variant MELA-AU 19 45807865 45807865 single base substitution C T downstream_gene_variant MELA-AU 19 45808642 45808642 single base substitution C T downstream_gene_variant MELA-AU 19 45808971 45808971 single base substitution T C downstream_gene_variant MELA-AU 19 45808989 45808989 single base substitution C T downstream_gene_variant MELA-AU 19 45809357 45809357 single base substitution C T downstream_gene_variant MELA-AU 19 45809869 45809869 single base substitution A C downstream_gene_variant MELA-AU 19 45810428 45810429 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 45810471 45810471 single base substitution G A downstream_gene_variant MELA-AU 19 45810525 45810525 single base substitution C A downstream_gene_variant MELA-AU 19 45810613 45810613 single base substitution C T downstream_gene_variant MELA-AU 19 45810670 45810670 single base substitution G A downstream_gene_variant MELA-AU 19 45810923 45810923 single base substitution G A downstream_gene_variant MELA-AU 19 45810973 45810973 single base substitution G A downstream_gene_variant MELA-AU 19 45811426 45811426 single base substitution G A downstream_gene_variant MELA-AU 19 45811468 45811468 single base substitution C T downstream_gene_variant MELA-AU 19 45811738 45811738 single base substitution G A downstream_gene_variant MELA-AU 19 45811859 45811859 single base substitution C T downstream_gene_variant MELA-AU 19 45811890 45811890 single base substitution G A downstream_gene_variant MELA-AU 19 45812245 45812245 single base substitution G A downstream_gene_variant MELA-AU 19 45812369 45812369 single base substitution C T downstream_gene_variant MELA-AU 19 45812440 45812440 single base substitution C T downstream_gene_variant MELA-AU 19 45813506 45813506 single base substitution G A downstream_gene_variant ORCA-IN 19 45595471 45595472 deletion of <=200bp GA - intron_variant ORCA-IN 19 45610342 45610342 single base substitution G A intron_variant ORCA-IN 19 45629788 45629788 single base substitution G C intron_variant ORCA-IN 19 45635155 45635155 single base substitution G A intron_variant ORCA-IN 19 45641789 45641789 single base substitution G C intron_variant ORCA-IN 19 45643832 45643832 single base substitution G A intron_variant ORCA-IN 19 45655235 45655235 single base substitution C A intron_variant ORCA-IN 19 45655880 45655880 single base substitution G C intron_variant ORCA-IN 19 45656059 45656059 single base substitution G T intron_variant ORCA-IN 19 45656327 45656327 single base substitution C A intron_variant ORCA-IN 19 45656453 45656453 single base substitution C A intron_variant ORCA-IN 19 45656560 45656560 deletion of <=200bp C - intron_variant ORCA-IN 19 45661980 45661980 single base substitution G C intron_variant ORCA-IN 19 45680457 45680457 single base substitution A G intron_variant ORCA-IN 19 45683123 45683123 single base substitution C T intron_variant ORCA-IN 19 45688361 45688361 single base substitution G C intron_variant ORCA-IN 19 45692950 45692950 single base substitution G A intron_variant ORCA-IN 19 45702180 45702180 single base substitution G A intron_variant ORCA-IN 19 45730920 45730920 single base substitution C A intron_variant ORCA-IN 19 45731963 45731963 single base substitution G A intron_variant ORCA-IN 19 45780711 45780711 deletion of <=200bp G - intron_variant ORCA-IN 19 45780711 45780711 deletion of <=200bp G - upstream_gene_variant ORCA-IN 19 45781183 45781183 single base substitution G T intron_variant ORCA-IN 19 45781183 45781183 single base substitution G T missense_variant E263D 789G>T ORCA-IN 19 45781183 45781183 single base substitution G T splice_region_variant ORCA-IN 19 45781183 45781183 single base substitution G T upstream_gene_variant ORCA-IN 19 45790891 45790891 single base substitution C A 3_prime_UTR_variant ORCA-IN 19 45790891 45790891 single base substitution C A exon_variant ORCA-IN 19 45790891 45790891 single base substitution C A missense_variant P488Q 1463C>A OV-AU 19 45581422 45581422 single base substitution C T upstream_gene_variant OV-AU 19 45581642 45581642 single base substitution C T upstream_gene_variant OV-AU 19 45581807 45581807 single base substitution T A upstream_gene_variant OV-AU 19 45584302 45584302 single base substitution G T intron_variant OV-AU 19 45585696 45585696 single base substitution C A intron_variant OV-AU 19 45589633 45589633 single base substitution T A intron_variant OV-AU 19 45597555 45597555 single base substitution A T intron_variant OV-AU 19 45601600 45601600 single base substitution C G intron_variant OV-AU 19 45601617 45601617 single base substitution C T intron_variant OV-AU 19 45610307 45610307 single base substitution C G intron_variant OV-AU 19 45627649 45627649 single base substitution C T intron_variant OV-AU 19 45627715 45627715 single base substitution C T intron_variant OV-AU 19 45627767 45627767 single base substitution C G intron_variant OV-AU 19 45627817 45627817 single base substitution C T intron_variant OV-AU 19 45627842 45627842 single base substitution C G intron_variant OV-AU 19 45627879 45627879 single base substitution C T intron_variant OV-AU 19 45627954 45627954 single base substitution C G intron_variant OV-AU 19 45628022 45628022 single base substitution C T intron_variant OV-AU 19 45628113 45628113 single base substitution C T intron_variant OV-AU 19 45628225 45628225 single base substitution C G intron_variant OV-AU 19 45628276 45628276 single base substitution C T intron_variant OV-AU 19 45628300 45628300 single base substitution C G intron_variant OV-AU 19 45629020 45629020 single base substitution G C intron_variant OV-AU 19 45631851 45631851 single base substitution C G intron_variant OV-AU 19 45634140 45634140 single base substitution C T intron_variant OV-AU 19 45642959 45642959 single base substitution T G intron_variant OV-AU 19 45653787 45653787 single base substitution A G intron_variant OV-AU 19 45657038 45657038 single base substitution G C intron_variant OV-AU 19 45661716 45661716 single base substitution C G intron_variant OV-AU 19 45661877 45661877 single base substitution G A intron_variant OV-AU 19 45662577 45662577 single base substitution G T intron_variant OV-AU 19 45663305 45663305 single base substitution A G intron_variant OV-AU 19 45664868 45664868 single base substitution C T intron_variant OV-AU 19 45666351 45666351 single base substitution T C intron_variant OV-AU 19 45673634 45673634 single base substitution C T intron_variant OV-AU 19 45673761 45673761 single base substitution C G intron_variant OV-AU 19 45679430 45679430 single base substitution C A intron_variant OV-AU 19 45681562 45681562 single base substitution G T intron_variant OV-AU 19 45682731 45682731 single base substitution A T intron_variant OV-AU 19 45685699 45685699 single base substitution G A intron_variant OV-AU 19 45687764 45687764 single base substitution T C intron_variant OV-AU 19 45693303 45693303 single base substitution C A intron_variant OV-AU 19 45698000 45698000 single base substitution C G intron_variant OV-AU 19 45704966 45704966 single base substitution T A intron_variant OV-AU 19 45707190 45707190 single base substitution C A intron_variant OV-AU 19 45707650 45707650 single base substitution C T intron_variant OV-AU 19 45712451 45712451 single base substitution C T intron_variant OV-AU 19 45720424 45720424 single base substitution C T intron_variant OV-AU 19 45721619 45721619 single base substitution A C intron_variant OV-AU 19 45722561 45722561 single base substitution G T intron_variant OV-AU 19 45722880 45722880 single base substitution C G intron_variant OV-AU 19 45723829 45723829 single base substitution T G intron_variant OV-AU 19 45726154 45726154 single base substitution C G intron_variant OV-AU 19 45727866 45727866 single base substitution A C intron_variant OV-AU 19 45745506 45745506 single base substitution C G intron_variant OV-AU 19 45748565 45748565 single base substitution G T intron_variant OV-AU 19 45749712 45749712 single base substitution C A intron_variant OV-AU 19 45749712 45749712 single base substitution C A upstream_gene_variant OV-AU 19 45751334 45751334 single base substitution T C intron_variant OV-AU 19 45751334 45751334 single base substitution T C upstream_gene_variant OV-AU 19 45752858 45752858 single base substitution T G intron_variant OV-AU 19 45752858 45752858 single base substitution T G upstream_gene_variant OV-AU 19 45763511 45763511 single base substitution G C intron_variant OV-AU 19 45763511 45763511 single base substitution G C upstream_gene_variant OV-AU 19 45783227 45783227 single base substitution C G intron_variant OV-AU 19 45783227 45783227 single base substitution C G upstream_gene_variant OV-AU 19 45784564 45784564 single base substitution C G downstream_gene_variant OV-AU 19 45784564 45784564 single base substitution C G intron_variant OV-AU 19 45787349 45787349 single base substitution C G downstream_gene_variant OV-AU 19 45787349 45787349 single base substitution C G intron_variant OV-AU 19 45791093 45791093 single base substitution T C downstream_gene_variant OV-AU 19 45791093 45791093 single base substitution T C exon_variant OV-AU 19 45791093 45791093 single base substitution T C intron_variant OV-AU 19 45791156 45791156 single base substitution G A downstream_gene_variant OV-AU 19 45791156 45791156 single base substitution G A exon_variant OV-AU 19 45791156 45791156 single base substitution G A intron_variant OV-AU 19 45796959 45796959 single base substitution A T intron_variant OV-AU 19 45813066 45813066 single base substitution A T downstream_gene_variant PACA-AU 19 45580219 45580219 single base substitution T C upstream_gene_variant PACA-AU 19 45582283 45582283 single base substitution T G upstream_gene_variant PACA-AU 19 45584750 45584750 single base substitution C T intron_variant PACA-AU 19 45591753 45591753 insertion of <=200bp - T intron_variant PACA-AU 19 45595091 45595091 single base substitution T C intron_variant PACA-AU 19 45595092 45595092 single base substitution T A intron_variant PACA-AU 19 45595514 45595514 single base substitution C A intron_variant PACA-AU 19 45601742 45601742 single base substitution C T intron_variant PACA-AU 19 45605303 45605303 single base substitution T G intron_variant PACA-AU 19 45606278 45606278 single base substitution C T intron_variant PACA-AU 19 45611274 45611274 deletion of <=200bp G - intron_variant PACA-AU 19 45612766 45612766 single base substitution G T intron_variant PACA-AU 19 45613606 45613606 single base substitution T G intron_variant PACA-AU 19 45614541 45614541 single base substitution A T intron_variant PACA-AU 19 45620105 45620105 single base substitution T C intron_variant PACA-AU 19 45620698 45620699 deletion of <=200bp CT - intron_variant PACA-AU 19 45623337 45623337 single base substitution G A intron_variant PACA-AU 19 45627678 45627678 single base substitution T C intron_variant PACA-AU 19 45628189 45628189 single base substitution G A intron_variant PACA-AU 19 45638235 45638235 single base substitution C T intron_variant PACA-AU 19 45645257 45645257 single base substitution G A intron_variant PACA-AU 19 45646220 45646220 single base substitution G C intron_variant PACA-AU 19 45646858 45646858 single base substitution G A intron_variant PACA-AU 19 45647566 45647566 single base substitution C T intron_variant PACA-AU 19 45647645 45647645 single base substitution G T intron_variant PACA-AU 19 45655769 45655771 deletion of <=200bp CTG - intron_variant PACA-AU 19 45658436 45658436 single base substitution C T intron_variant PACA-AU 19 45659083 45659083 single base substitution A G intron_variant PACA-AU 19 45664692 45664692 single base substitution C T intron_variant PACA-AU 19 45668293 45668293 single base substitution G A intron_variant PACA-AU 19 45675004 45675004 single base substitution C A intron_variant PACA-AU 19 45675830 45675830 single base substitution T C intron_variant PACA-AU 19 45679735 45679735 single base substitution T C intron_variant PACA-AU 19 45680457 45680457 single base substitution A G intron_variant PACA-AU 19 45681828 45681828 single base substitution C T intron_variant PACA-AU 19 45685044 45685063 deletion of <=200bp ACTCTTAAGCATTTACCCTT - intron_variant PACA-AU 19 45687884 45687884 single base substitution C T intron_variant PACA-AU 19 45689327 45689327 single base substitution C T intron_variant PACA-AU 19 45690153 45690153 single base substitution C T intron_variant PACA-AU 19 45692721 45692721 single base substitution G A intron_variant PACA-AU 19 45692973 45692973 single base substitution C T intron_variant PACA-AU 19 45693997 45693997 single base substitution G A intron_variant PACA-AU 19 45699100 45699100 single base substitution G A intron_variant PACA-AU 19 45704012 45704012 single base substitution A G intron_variant PACA-AU 19 45709198 45709198 single base substitution G C intron_variant PACA-AU 19 45710262 45710262 single base substitution G T intron_variant PACA-AU 19 45716961 45716961 insertion of <=200bp - G intron_variant PACA-AU 19 45717433 45717433 single base substitution A T intron_variant PACA-AU 19 45720462 45720474 deletion of <=200bp GAGTTTTAACTCT - intron_variant PACA-AU 19 45720912 45720912 single base substitution C A intron_variant PACA-AU 19 45721775 45721775 single base substitution G A intron_variant PACA-AU 19 45721831 45721831 single base substitution G C intron_variant PACA-AU 19 45721854 45721854 single base substitution G C intron_variant PACA-AU 19 45721905 45721905 single base substitution G A intron_variant PACA-AU 19 45723894 45723894 single base substitution G T intron_variant PACA-AU 19 45724152 45724152 single base substitution G A intron_variant PACA-AU 19 45731717 45731717 single base substitution T G intron_variant PACA-AU 19 45735104 45735104 single base substitution C T intron_variant PACA-AU 19 45735578 45735578 single base substitution G A intron_variant PACA-AU 19 45740044 45740044 single base substitution C T intron_variant PACA-AU 19 45740583 45740583 single base substitution C A intron_variant PACA-AU 19 45741979 45741979 single base substitution G A intron_variant PACA-AU 19 45743544 45743544 single base substitution T A intron_variant PACA-AU 19 45745255 45745256 deletion of <=200bp AG - intron_variant PACA-AU 19 45748628 45748628 single base substitution C T intron_variant PACA-AU 19 45750393 45750393 single base substitution G A intron_variant PACA-AU 19 45750393 45750393 single base substitution G A upstream_gene_variant PACA-AU 19 45750885 45750885 insertion of <=200bp - ATTC intron_variant PACA-AU 19 45750885 45750885 insertion of <=200bp - ATTC upstream_gene_variant PACA-AU 19 45752556 45752556 single base substitution C T intron_variant PACA-AU 19 45752556 45752556 single base substitution C T upstream_gene_variant PACA-AU 19 45753190 45753190 single base substitution G A intron_variant PACA-AU 19 45753190 45753190 single base substitution G A upstream_gene_variant PACA-AU 19 45755912 45755912 single base substitution C T intron_variant PACA-AU 19 45760355 45760355 single base substitution G C intron_variant PACA-AU 19 45760355 45760355 single base substitution G C upstream_gene_variant PACA-AU 19 45768784 45768784 single base substitution C T intron_variant PACA-AU 19 45771642 45771642 single base substitution G T downstream_gene_variant PACA-AU 19 45771642 45771642 single base substitution G T intron_variant PACA-AU 19 45771642 45771642 single base substitution G T upstream_gene_variant PACA-AU 19 45772154 45772154 single base substitution G A downstream_gene_variant PACA-AU 19 45772154 45772154 single base substitution G A intron_variant PACA-AU 19 45772154 45772154 single base substitution G A upstream_gene_variant PACA-AU 19 45773549 45773549 single base substitution C T downstream_gene_variant PACA-AU 19 45773549 45773549 single base substitution C T intron_variant PACA-AU 19 45773549 45773549 single base substitution C T upstream_gene_variant PACA-AU 19 45774818 45774818 single base substitution A G exon_variant PACA-AU 19 45774818 45774818 single base substitution A G missense_variant D213G 638A>G PACA-AU 19 45776889 45776889 single base substitution C T downstream_gene_variant PACA-AU 19 45776889 45776889 single base substitution C T intron_variant PACA-AU 19 45789792 45789792 single base substitution A G intron_variant PACA-AU 19 45790721 45790721 single base substitution A C 3_prime_UTR_variant PACA-AU 19 45790721 45790721 single base substitution A C exon_variant PACA-AU 19 45790721 45790721 single base substitution A C synonymous_variant A431A 1293A>C PACA-AU 19 45793093 45793093 single base substitution G A downstream_gene_variant PACA-AU 19 45793093 45793093 single base substitution G A intron_variant PACA-AU 19 45797879 45797879 single base substitution C A intron_variant PACA-AU 19 45801455 45801455 single base substitution C T intron_variant PACA-AU 19 45801455 45801455 single base substitution C T synonymous_variant A644A 1932C>T PACA-AU 19 45801632 45801632 single base substitution G C intron_variant PACA-AU 19 45805769 45805769 single base substitution G A 3_prime_UTR_variant PACA-AU 19 45805769 45805769 single base substitution G A missense_variant R687H 2060G>A PACA-AU 19 45806195 45806195 single base substitution C T 3_prime_UTR_variant PACA-AU 19 45808776 45808776 single base substitution T C downstream_gene_variant PACA-AU 19 45809237 45809237 single base substitution G T downstream_gene_variant PACA-CA 19 45577651 45577651 single base substitution C A upstream_gene_variant PACA-CA 19 45579800 45579800 single base substitution G A upstream_gene_variant PACA-CA 19 45580342 45580342 single base substitution G A upstream_gene_variant PACA-CA 19 45586357 45586357 single base substitution G T intron_variant PACA-CA 19 45593738 45593738 single base substitution T C intron_variant PACA-CA 19 45594764 45594764 single base substitution T C intron_variant PACA-CA 19 45598183 45598183 single base substitution G T intron_variant PACA-CA 19 45599518 45599518 single base substitution G A intron_variant PACA-CA 19 45601507 45601507 single base substitution C T intron_variant PACA-CA 19 45601825 45601825 single base substitution C T intron_variant PACA-CA 19 45605832 45605832 single base substitution C T intron_variant PACA-CA 19 45608309 45608309 single base substitution G A intron_variant PACA-CA 19 45608954 45608954 single base substitution G A intron_variant PACA-CA 19 45609517 45609517 single base substitution G T intron_variant PACA-CA 19 45613549 45613549 deletion of <=200bp T - intron_variant PACA-CA 19 45614679 45614679 single base substitution C T intron_variant PACA-CA 19 45617747 45617747 single base substitution C T intron_variant PACA-CA 19 45625414 45625414 single base substitution C T intron_variant PACA-CA 19 45631157 45631157 single base substitution C T intron_variant PACA-CA 19 45631158 45631158 single base substitution G A intron_variant PACA-CA 19 45631247 45631247 single base substitution A T intron_variant PACA-CA 19 45635521 45635521 single base substitution G C intron_variant PACA-CA 19 45639882 45639882 single base substitution A T intron_variant PACA-CA 19 45642071 45642071 single base substitution C T intron_variant PACA-CA 19 45642593 45642593 single base substitution C G intron_variant PACA-CA 19 45643983 45643983 single base substitution G A intron_variant PACA-CA 19 45651900 45651900 single base substitution G A intron_variant PACA-CA 19 45652256 45652256 single base substitution C T intron_variant PACA-CA 19 45654567 45654567 single base substitution G T intron_variant PACA-CA 19 45655101 45655101 single base substitution T C intron_variant PACA-CA 19 45655916 45655916 single base substitution C T intron_variant PACA-CA 19 45656153 45656153 single base substitution G A intron_variant PACA-CA 19 45657917 45657917 single base substitution G A intron_variant PACA-CA 19 45659708 45659708 single base substitution A C intron_variant PACA-CA 19 45659864 45659864 single base substitution G A intron_variant PACA-CA 19 45661497 45661497 single base substitution C T intron_variant PACA-CA 19 45661992 45661992 single base substitution G A intron_variant PACA-CA 19 45662764 45662764 single base substitution G A intron_variant PACA-CA 19 45665096 45665096 single base substitution A T intron_variant PACA-CA 19 45666565 45666565 single base substitution G A intron_variant PACA-CA 19 45666610 45666610 single base substitution G A intron_variant PACA-CA 19 45668316 45668316 single base substitution C A intron_variant PACA-CA 19 45675151 45675151 single base substitution G A intron_variant PACA-CA 19 45678246 45678246 single base substitution G A intron_variant PACA-CA 19 45678973 45678973 single base substitution G T intron_variant PACA-CA 19 45684662 45684662 single base substitution G A intron_variant PACA-CA 19 45691298 45691299 deletion of <=200bp TG - intron_variant PACA-CA 19 45693124 45693124 single base substitution C G intron_variant PACA-CA 19 45693598 45693598 single base substitution C G intron_variant PACA-CA 19 45693833 45693833 deletion of <=200bp T - intron_variant PACA-CA 19 45695323 45695323 single base substitution G A intron_variant PACA-CA 19 45696487 45696487 single base substitution C T intron_variant PACA-CA 19 45700764 45700764 insertion of <=200bp - G intron_variant PACA-CA 19 45704580 45704580 single base substitution C T intron_variant PACA-CA 19 45707899 45707899 single base substitution C T intron_variant PACA-CA 19 45712824 45712824 single base substitution C T intron_variant PACA-CA 19 45712856 45712856 single base substitution T A intron_variant PACA-CA 19 45713138 45713138 single base substitution C T intron_variant PACA-CA 19 45717167 45717167 single base substitution G A intron_variant PACA-CA 19 45720288 45720288 single base substitution C T intron_variant PACA-CA 19 45726226 45726226 single base substitution G A intron_variant PACA-CA 19 45728259 45728259 single base substitution G A intron_variant PACA-CA 19 45730914 45730914 single base substitution C T intron_variant PACA-CA 19 45730973 45730973 insertion of <=200bp - G intron_variant PACA-CA 19 45732885 45732885 single base substitution C A intron_variant PACA-CA 19 45733266 45733266 single base substitution G A intron_variant PACA-CA 19 45733595 45733595 single base substitution G T intron_variant PACA-CA 19 45734303 45734303 single base substitution T C intron_variant PACA-CA 19 45735907 45735907 single base substitution T G intron_variant PACA-CA 19 45736474 45736474 insertion of <=200bp - AAAT intron_variant PACA-CA 19 45737181 45737181 single base substitution G A intron_variant PACA-CA 19 45737339 45737339 single base substitution G C intron_variant PACA-CA 19 45740579 45740579 single base substitution G A intron_variant PACA-CA 19 45741845 45741845 single base substitution G A intron_variant PACA-CA 19 45743540 45743540 single base substitution A T intron_variant PACA-CA 19 45743544 45743544 single base substitution T A intron_variant PACA-CA 19 45744458 45744458 single base substitution C T intron_variant PACA-CA 19 45746579 45746579 single base substitution G A intron_variant PACA-CA 19 45748134 45748134 single base substitution T G intron_variant PACA-CA 19 45750854 45750854 insertion of <=200bp - TTAT intron_variant PACA-CA 19 45750854 45750854 insertion of <=200bp - TTAT upstream_gene_variant PACA-CA 19 45750952 45750952 single base substitution C T intron_variant PACA-CA 19 45750952 45750952 single base substitution C T upstream_gene_variant PACA-CA 19 45764559 45764559 single base substitution T C intron_variant PACA-CA 19 45764559 45764559 single base substitution T C upstream_gene_variant PACA-CA 19 45766100 45766100 single base substitution G A intron_variant PACA-CA 19 45766100 45766100 single base substitution G A upstream_gene_variant PACA-CA 19 45768755 45768755 insertion of <=200bp - G intron_variant PACA-CA 19 45771711 45771711 single base substitution G A downstream_gene_variant PACA-CA 19 45771711 45771711 single base substitution G A intron_variant PACA-CA 19 45771711 45771711 single base substitution G A upstream_gene_variant PACA-CA 19 45773425 45773425 single base substitution G A downstream_gene_variant PACA-CA 19 45773425 45773425 single base substitution G A intron_variant PACA-CA 19 45773425 45773425 single base substitution G A upstream_gene_variant PACA-CA 19 45777185 45777185 single base substitution A G downstream_gene_variant PACA-CA 19 45777185 45777185 single base substitution A G intron_variant PACA-CA 19 45778389 45778389 single base substitution C T downstream_gene_variant PACA-CA 19 45778389 45778389 single base substitution C T intron_variant PACA-CA 19 45778782 45778782 single base substitution A T downstream_gene_variant PACA-CA 19 45778782 45778782 single base substitution A T intron_variant PACA-CA 19 45778782 45778782 single base substitution A T upstream_gene_variant PACA-CA 19 45790892 45790892 single base substitution A C 3_prime_UTR_variant PACA-CA 19 45790892 45790892 single base substitution A C exon_variant PACA-CA 19 45790892 45790892 single base substitution A C synonymous_variant P488P 1464A>C PACA-CA 19 45794540 45794540 single base substitution A T downstream_gene_variant PACA-CA 19 45794540 45794540 single base substitution A T intron_variant PACA-CA 19 45796368 45796368 single base substitution A C downstream_gene_variant PACA-CA 19 45796368 45796368 single base substitution A C intron_variant PACA-CA 19 45799159 45799159 single base substitution G A intron_variant PACA-CA 19 45802904 45802904 single base substitution C A intron_variant PACA-CA 19 45805821 45805821 single base substitution C T 3_prime_UTR_variant PACA-CA 19 45805821 45805821 single base substitution C T synonymous_variant G704G 2112C>T PACA-CA 19 45806557 45806557 single base substitution G A 3_prime_UTR_variant PACA-CA 19 45808243 45808243 single base substitution G A 3_prime_UTR_variant PACA-CA 19 45808243 45808243 single base substitution G A downstream_gene_variant PACA-CA 19 45809675 45809675 single base substitution G A downstream_gene_variant PACA-CA 19 45810133 45810133 single base substitution G A downstream_gene_variant PAEN-AU 19 45584766 45584766 single base substitution T G intron_variant PAEN-AU 19 45654518 45654518 single base substitution T C intron_variant PAEN-AU 19 45662131 45662131 single base substitution G A intron_variant PAEN-AU 19 45693686 45693686 single base substitution C A intron_variant PAEN-AU 19 45710642 45710642 single base substitution C T intron_variant PAEN-AU 19 45721619 45721619 single base substitution A C intron_variant PAEN-AU 19 45728435 45728435 single base substitution A G intron_variant PAEN-AU 19 45741374 45741374 single base substitution C T intron_variant PAEN-IT 19 45586678 45586678 single base substitution C T intron_variant PAEN-IT 19 45599737 45599737 single base substitution G A intron_variant PAEN-IT 19 45623239 45623239 single base substitution A T intron_variant PAEN-IT 19 45623738 45623738 single base substitution C T intron_variant PAEN-IT 19 45639629 45639629 single base substitution C T intron_variant PAEN-IT 19 45696488 45696488 single base substitution G A intron_variant PAEN-IT 19 45706612 45706612 single base substitution A T intron_variant PAEN-IT 19 45712915 45712915 single base substitution G A intron_variant PAEN-IT 19 45723827 45723827 single base substitution G T intron_variant PAEN-IT 19 45726844 45726844 single base substitution G A intron_variant PAEN-IT 19 45729585 45729585 single base substitution C A intron_variant PAEN-IT 19 45745213 45745213 single base substitution G A intron_variant PAEN-IT 19 45745378 45745378 single base substitution C A intron_variant PAEN-IT 19 45748873 45748873 single base substitution C A intron_variant PAEN-IT 19 45770308 45770308 single base substitution G T downstream_gene_variant PAEN-IT 19 45770308 45770308 single base substitution G T intron_variant PAEN-IT 19 45770308 45770308 single base substitution G T upstream_gene_variant PAEN-IT 19 45774877 45774877 single base substitution G A exon_variant PAEN-IT 19 45774877 45774877 single base substitution G A intron_variant PAEN-IT 19 45774877 45774877 single base substitution G A missense_variant D233N 697G>A PBCA-DE 19 45583117 45583118 deletion of <=200bp TG - intron_variant PBCA-DE 19 45587235 45587235 single base substitution A G intron_variant PBCA-DE 19 45589533 45589533 single base substitution A G intron_variant PBCA-DE 19 45591984 45591984 insertion of <=200bp - A intron_variant PBCA-DE 19 45595461 45595461 single base substitution G T intron_variant PBCA-DE 19 45605327 45605327 single base substitution C G intron_variant PBCA-DE 19 45614517 45614517 insertion of <=200bp - ATTATT intron_variant PBCA-DE 19 45615515 45615515 insertion of <=200bp - G intron_variant PBCA-DE 19 45615520 45615520 insertion of <=200bp - A intron_variant PBCA-DE 19 45626277 45626277 single base substitution C T intron_variant PBCA-DE 19 45626401 45626401 single base substitution T C intron_variant PBCA-DE 19 45634097 45634097 single base substitution G A intron_variant PBCA-DE 19 45646623 45646641 deletion of <=200bp CAGGGGTGCCAGGCCGAGG - intron_variant PBCA-DE 19 45649504 45649504 insertion of <=200bp - GTAA intron_variant PBCA-DE 19 45672244 45672244 single base substitution C T intron_variant PBCA-DE 19 45676345 45676345 single base substitution C T intron_variant PBCA-DE 19 45693615 45693616 deletion of <=200bp TC - intron_variant PBCA-DE 19 45697048 45697048 insertion of <=200bp - T intron_variant PBCA-DE 19 45698707 45698707 single base substitution C T intron_variant PBCA-DE 19 45700934 45700934 insertion of <=200bp - AG intron_variant PBCA-DE 19 45705309 45705309 single base substitution G A intron_variant PBCA-DE 19 45706773 45706773 single base substitution G A intron_variant PBCA-DE 19 45707273 45707273 insertion of <=200bp - T intron_variant PBCA-DE 19 45707993 45707993 deletion of <=200bp T - intron_variant PBCA-DE 19 45712300 45712300 single base substitution T A intron_variant PBCA-DE 19 45713021 45713021 single base substitution G T intron_variant PBCA-DE 19 45717138 45717138 single base substitution G T intron_variant PBCA-DE 19 45721277 45721277 single base substitution G T intron_variant PBCA-DE 19 45723076 45723076 single base substitution C T intron_variant PBCA-DE 19 45730178 45730178 insertion of <=200bp - T intron_variant PBCA-DE 19 45733898 45733898 single base substitution C T intron_variant PBCA-DE 19 45735025 45735025 single base substitution A G intron_variant PBCA-DE 19 45736239 45736239 single base substitution C T intron_variant PBCA-DE 19 45742498 45742498 single base substitution C T intron_variant PBCA-DE 19 45745383 45745383 single base substitution C T intron_variant PBCA-DE 19 45747427 45747427 single base substitution C T intron_variant PBCA-DE 19 45748978 45748978 single base substitution C T intron_variant PBCA-DE 19 45749312 45749312 single base substitution C T intron_variant PBCA-DE 19 45756293 45756293 single base substitution C T intron_variant PBCA-DE 19 45758591 45758591 single base substitution G A intron_variant PBCA-DE 19 45758591 45758591 single base substitution G A upstream_gene_variant PBCA-DE 19 45773848 45773848 single base substitution A C downstream_gene_variant PBCA-DE 19 45773848 45773848 single base substitution A C intron_variant PBCA-DE 19 45773848 45773848 single base substitution A C upstream_gene_variant PBCA-DE 19 45774880 45774880 single base substitution G T exon_variant PBCA-DE 19 45774880 45774880 single base substitution G T intron_variant PBCA-DE 19 45774880 45774880 single base substitution G T missense_variant G234W 700G>T PBCA-DE 19 45781081 45781082 deletion of <=200bp TT - intron_variant PBCA-DE 19 45781081 45781082 deletion of <=200bp TT - upstream_gene_variant PBCA-DE 19 45793312 45793312 single base substitution C T downstream_gene_variant PBCA-DE 19 45793312 45793312 single base substitution C T intron_variant PBCA-DE 19 45811690 45811690 single base substitution G T downstream_gene_variant PRAD-CA 19 45579132 45579132 single base substitution A T upstream_gene_variant PRAD-CA 19 45590290 45590290 single base substitution A T intron_variant PRAD-CA 19 45591511 45591511 single base substitution A T intron_variant PRAD-CA 19 45600797 45600797 single base substitution C T intron_variant PRAD-CA 19 45609261 45609261 single base substitution C G intron_variant PRAD-CA 19 45642935 45642935 single base substitution T G intron_variant PRAD-CA 19 45649196 45649196 single base substitution C T intron_variant PRAD-CA 19 45652541 45652541 single base substitution G C intron_variant PRAD-CA 19 45662328 45662328 single base substitution G A intron_variant PRAD-CA 19 45691343 45691343 single base substitution T C intron_variant PRAD-CA 19 45699604 45699604 single base substitution C A intron_variant PRAD-CA 19 45700089 45700089 single base substitution G A intron_variant PRAD-CA 19 45703730 45703730 single base substitution G A intron_variant PRAD-CA 19 45703867 45703867 single base substitution C T intron_variant PRAD-CA 19 45723446 45723446 single base substitution A T intron_variant PRAD-CA 19 45748998 45748998 single base substitution C G intron_variant PRAD-CA 19 45753368 45753368 single base substitution T C intron_variant PRAD-CA 19 45753368 45753368 single base substitution T C upstream_gene_variant PRAD-UK 19 45588990 45588990 single base substitution C T intron_variant PRAD-UK 19 45592471 45592471 single base substitution A G intron_variant PRAD-UK 19 45594343 45594343 single base substitution C T intron_variant PRAD-UK 19 45615557 45615557 insertion of <=200bp - GGCGTGGGATTACCTTCTGATACATTTCACCTGGAGTGCTGGGATGACG intron_variant PRAD-UK 19 45616978 45616978 single base substitution C G intron_variant PRAD-UK 19 45640547 45640547 single base substitution C G intron_variant PRAD-UK 19 45641256 45641256 single base substitution G A intron_variant PRAD-UK 19 45683576 45683576 single base substitution C T intron_variant PRAD-UK 19 45684475 45684475 insertion of <=200bp - A intron_variant PRAD-UK 19 45696722 45696722 single base substitution T G intron_variant PRAD-UK 19 45704486 45704486 single base substitution G C intron_variant PRAD-UK 19 45706031 45706031 single base substitution G C intron_variant PRAD-UK 19 45731761 45731761 single base substitution G A intron_variant PRAD-UK 19 45739579 45739579 single base substitution C A intron_variant PRAD-UK 19 45750886 45750886 insertion of <=200bp - TTTATTTA intron_variant PRAD-UK 19 45750886 45750886 insertion of <=200bp - TTTATTTA upstream_gene_variant PRAD-UK 19 45764671 45764672 deletion of <=200bp CA - intron_variant PRAD-UK 19 45764671 45764672 deletion of <=200bp CA - upstream_gene_variant PRAD-UK 19 45766649 45766649 single base substitution G A intron_variant PRAD-UK 19 45766649 45766649 single base substitution G A upstream_gene_variant PRAD-UK 19 45769833 45769833 single base substitution G A downstream_gene_variant PRAD-UK 19 45769833 45769833 single base substitution G A intron_variant PRAD-UK 19 45769833 45769833 single base substitution G A upstream_gene_variant PRAD-UK 19 45772564 45772564 single base substitution G T downstream_gene_variant PRAD-UK 19 45772564 45772564 single base substitution G T intron_variant PRAD-UK 19 45772564 45772564 single base substitution G T upstream_gene_variant PRAD-UK 19 45803539 45803539 single base substitution G T intron_variant PRAD-US 19 45579626 45579626 single base substitution G A upstream_gene_variant PRAD-US 19 45593388 45593388 single base substitution A G intron_variant PRAD-US 19 45656261 45656261 single base substitution C A intron_variant PRAD-US 19 45668125 45668125 single base substitution G A intron_variant PRAD-US 19 45762287 45762287 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 19 45762287 45762287 single base substitution C T intron_variant PRAD-US 19 45762287 45762287 single base substitution C T missense_variant P31L 92C>T PRAD-US 19 45762287 45762287 single base substitution C T upstream_gene_variant PRAD-US 19 45805663 45805663 insertion of <=200bp - C frameshift_variant A652R? PRAD-US 19 45805663 45805663 insertion of <=200bp - C frameshift_variant P678P? READ-US 19 45667487 45667487 single base substitution C A intron_variant READ-US 19 45769490 45769490 single base substitution C T exon_variant READ-US 19 45769490 45769490 single base substitution C T intron_variant READ-US 19 45769490 45769490 single base substitution C T missense_variant S167L 500C>T READ-US 19 45769490 45769490 single base substitution C T missense_variant S58L 173C>T READ-US 19 45783945 45783945 single base substitution G A 3_prime_UTR_variant READ-US 19 45783945 45783945 single base substitution G A downstream_gene_variant READ-US 19 45783945 45783945 single base substitution G A exon_variant READ-US 19 45783945 45783945 single base substitution G A missense_variant R410Q 1229G>A READ-US 19 45790785 45790785 single base substitution C T 3_prime_UTR_variant READ-US 19 45790785 45790785 single base substitution C T exon_variant READ-US 19 45790785 45790785 single base substitution C T missense_variant P453S 1357C>T READ-US 19 45801437 45801437 single base substitution C G intron_variant READ-US 19 45801437 45801437 single base substitution C G missense_variant N638K 1914C>G RECA-EU 19 45583004 45583004 single base substitution C T intron_variant RECA-EU 19 45592136 45592136 single base substitution C A intron_variant RECA-EU 19 45600042 45600042 single base substitution T C intron_variant RECA-EU 19 45614078 45614078 single base substitution A T intron_variant RECA-EU 19 45620238 45620238 single base substitution C A intron_variant RECA-EU 19 45637082 45637082 single base substitution A T intron_variant RECA-EU 19 45642571 45642571 single base substitution T A intron_variant RECA-EU 19 45653849 45653849 single base substitution A T intron_variant RECA-EU 19 45694926 45694926 single base substitution G T intron_variant RECA-EU 19 45710837 45710837 single base substitution A C intron_variant RECA-EU 19 45712818 45712818 single base substitution T C intron_variant RECA-EU 19 45722234 45722234 single base substitution C G intron_variant RECA-EU 19 45756798 45756798 single base substitution C T intron_variant RECA-EU 19 45759625 45759625 single base substitution G C intron_variant RECA-EU 19 45759625 45759625 single base substitution G C upstream_gene_variant RECA-EU 19 45762143 45762143 single base substitution G C intron_variant RECA-EU 19 45762143 45762143 single base substitution G C upstream_gene_variant RECA-EU 19 45775638 45775638 single base substitution G A downstream_gene_variant RECA-EU 19 45775638 45775638 single base substitution G A intron_variant RECA-EU 19 45785151 45785151 single base substitution T A downstream_gene_variant RECA-EU 19 45785151 45785151 single base substitution T A intron_variant RECA-EU 19 45788694 45788694 single base substitution T A downstream_gene_variant RECA-EU 19 45788694 45788694 single base substitution T A intron_variant SKCA-BR 19 45581835 45581835 single base substitution C T upstream_gene_variant SKCA-BR 19 45582040 45582040 single base substitution C T upstream_gene_variant SKCA-BR 19 45583037 45583037 single base substitution C T intron_variant SKCA-BR 19 45584030 45584030 single base substitution T G intron_variant SKCA-BR 19 45586541 45586541 single base substitution A T intron_variant SKCA-BR 19 45586542 45586542 single base substitution C T intron_variant SKCA-BR 19 45586857 45586857 single base substitution C T intron_variant SKCA-BR 19 45589078 45589078 single base substitution G A intron_variant SKCA-BR 19 45589079 45589079 single base substitution T C intron_variant SKCA-BR 19 45590638 45590638 single base substitution G C intron_variant SKCA-BR 19 45591227 45591227 single base substitution A G intron_variant SKCA-BR 19 45592393 45592393 single base substitution T G intron_variant SKCA-BR 19 45595460 45595460 single base substitution T G intron_variant SKCA-BR 19 45595470 45595472 deletion of <=200bp GGA - intron_variant SKCA-BR 19 45595472 45595472 single base substitution A G intron_variant SKCA-BR 19 45599016 45599016 insertion of <=200bp - TAAA intron_variant SKCA-BR 19 45603936 45603936 single base substitution G A intron_variant SKCA-BR 19 45605579 45605579 single base substitution C T intron_variant SKCA-BR 19 45608382 45608382 single base substitution T G intron_variant SKCA-BR 19 45608823 45608823 single base substitution A C intron_variant SKCA-BR 19 45611465 45611465 single base substitution T C intron_variant SKCA-BR 19 45615556 45615556 single base substitution A G intron_variant SKCA-BR 19 45620827 45620827 single base substitution T G intron_variant SKCA-BR 19 45623516 45623516 single base substitution C T intron_variant SKCA-BR 19 45625779 45625779 single base substitution C T intron_variant SKCA-BR 19 45626340 45626340 single base substitution T C intron_variant SKCA-BR 19 45628065 45628065 insertion of <=200bp - GA intron_variant SKCA-BR 19 45630266 45630266 single base substitution G A intron_variant SKCA-BR 19 45639962 45639962 insertion of <=200bp - GGGGAGGC intron_variant SKCA-BR 19 45644720 45644742 deletion of <=200bp AGGAAGAGGCAGCTCAGGCTCCC - intron_variant SKCA-BR 19 45645483 45645483 single base substitution C T intron_variant SKCA-BR 19 45648910 45648910 single base substitution G A intron_variant SKCA-BR 19 45650295 45650295 single base substitution A G intron_variant SKCA-BR 19 45654788 45654788 single base substitution A C intron_variant SKCA-BR 19 45657147 45657147 single base substitution G A intron_variant SKCA-BR 19 45658281 45658283 deletion of <=200bp TAA - intron_variant SKCA-BR 19 45662163 45662163 single base substitution A G intron_variant SKCA-BR 19 45662177 45662177 single base substitution T G intron_variant SKCA-BR 19 45662589 45662589 single base substitution G A intron_variant SKCA-BR 19 45668411 45668411 single base substitution G A intron_variant SKCA-BR 19 45669096 45669096 single base substitution G A intron_variant SKCA-BR 19 45671831 45671831 single base substitution G A intron_variant SKCA-BR 19 45673368 45673368 single base substitution C T intron_variant SKCA-BR 19 45673391 45673391 single base substitution A G intron_variant SKCA-BR 19 45674078 45674078 single base substitution T C intron_variant SKCA-BR 19 45675638 45675638 single base substitution T C intron_variant SKCA-BR 19 45679501 45679501 single base substitution T G intron_variant SKCA-BR 19 45680875 45680875 single base substitution G T intron_variant SKCA-BR 19 45681842 45681842 single base substitution G A intron_variant SKCA-BR 19 45682051 45682051 insertion of <=200bp - AG intron_variant SKCA-BR 19 45691049 45691049 single base substitution T C intron_variant SKCA-BR 19 45691252 45691252 single base substitution C T intron_variant SKCA-BR 19 45691921 45691921 single base substitution C T intron_variant SKCA-BR 19 45692423 45692423 single base substitution C T intron_variant SKCA-BR 19 45692424 45692424 single base substitution C T intron_variant SKCA-BR 19 45693490 45693490 single base substitution C T intron_variant SKCA-BR 19 45693874 45693874 single base substitution G A intron_variant SKCA-BR 19 45694046 45694046 insertion of <=200bp - TTTTA intron_variant SKCA-BR 19 45695367 45695367 single base substitution C T intron_variant SKCA-BR 19 45696385 45696385 single base substitution C T intron_variant SKCA-BR 19 45696774 45696774 single base substitution C T intron_variant SKCA-BR 19 45698884 45698884 single base substitution C T intron_variant SKCA-BR 19 45700156 45700156 insertion of <=200bp - CAAA intron_variant SKCA-BR 19 45700375 45700375 single base substitution C T intron_variant SKCA-BR 19 45700918 45700918 single base substitution C T intron_variant SKCA-BR 19 45704560 45704560 single base substitution C T intron_variant SKCA-BR 19 45704810 45704810 single base substitution C T intron_variant SKCA-BR 19 45708758 45708758 single base substitution A G intron_variant SKCA-BR 19 45709611 45709613 deletion of <=200bp CAA - intron_variant SKCA-BR 19 45709645 45709645 single base substitution C T intron_variant SKCA-BR 19 45710659 45710659 single base substitution G A intron_variant SKCA-BR 19 45710883 45710883 single base substitution T C intron_variant SKCA-BR 19 45714503 45714503 single base substitution C T intron_variant SKCA-BR 19 45714692 45714692 single base substitution C T intron_variant SKCA-BR 19 45715207 45715207 single base substitution T G intron_variant SKCA-BR 19 45716321 45716321 single base substitution T G intron_variant SKCA-BR 19 45717051 45717052 deletion of <=200bp TA - intron_variant SKCA-BR 19 45720773 45720773 single base substitution T C intron_variant SKCA-BR 19 45721647 45721647 single base substitution C T intron_variant SKCA-BR 19 45727299 45727299 single base substitution G T intron_variant SKCA-BR 19 45727811 45727811 single base substitution C T intron_variant SKCA-BR 19 45731678 45731678 single base substitution C T intron_variant SKCA-BR 19 45731998 45731998 single base substitution C T intron_variant SKCA-BR 19 45732508 45732508 single base substitution A G intron_variant SKCA-BR 19 45732533 45732533 single base substitution A G intron_variant SKCA-BR 19 45732583 45732583 single base substitution A G intron_variant SKCA-BR 19 45733117 45733117 single base substitution G A intron_variant SKCA-BR 19 45733384 45733384 single base substitution T C intron_variant SKCA-BR 19 45733782 45733782 single base substitution G C intron_variant SKCA-BR 19 45735666 45735666 single base substitution C T intron_variant SKCA-BR 19 45736156 45736156 single base substitution T A intron_variant SKCA-BR 19 45737218 45737218 single base substitution A C intron_variant SKCA-BR 19 45740735 45740735 single base substitution T C intron_variant SKCA-BR 19 45741762 45741762 single base substitution G A intron_variant SKCA-BR 19 45741911 45741911 single base substitution G A intron_variant SKCA-BR 19 45742064 45742064 single base substitution A G intron_variant SKCA-BR 19 45742818 45742818 single base substitution A G intron_variant SKCA-BR 19 45744259 45744259 single base substitution T C intron_variant SKCA-BR 19 45745012 45745013 deletion of <=200bp TG - intron_variant SKCA-BR 19 45745014 45745014 single base substitution C A intron_variant SKCA-BR 19 45745403 45745403 single base substitution A G intron_variant SKCA-BR 19 45746096 45746096 single base substitution G A intron_variant SKCA-BR 19 45746559 45746559 single base substitution A T intron_variant SKCA-BR 19 45746990 45746990 single base substitution G A intron_variant SKCA-BR 19 45748075 45748075 single base substitution C A intron_variant SKCA-BR 19 45748905 45748905 single base substitution C T intron_variant SKCA-BR 19 45752255 45752255 single base substitution C T intron_variant SKCA-BR 19 45752255 45752255 single base substitution C T upstream_gene_variant SKCA-BR 19 45755835 45755835 single base substitution C T intron_variant SKCA-BR 19 45757554 45757554 single base substitution C T intron_variant SKCA-BR 19 45757554 45757554 single base substitution C T upstream_gene_variant SKCA-BR 19 45760947 45760947 single base substitution A T intron_variant SKCA-BR 19 45760947 45760947 single base substitution A T upstream_gene_variant SKCA-BR 19 45760947 45760949 deletion of <=200bp ATT - intron_variant SKCA-BR 19 45760947 45760949 deletion of <=200bp ATT - upstream_gene_variant SKCA-BR 19 45766503 45766503 single base substitution G A intron_variant SKCA-BR 19 45766503 45766503 single base substitution G A upstream_gene_variant SKCA-BR 19 45767776 45767776 single base substitution T G intron_variant SKCA-BR 19 45767776 45767776 single base substitution T G upstream_gene_variant SKCA-BR 19 45773312 45773312 single base substitution C T downstream_gene_variant SKCA-BR 19 45773312 45773312 single base substitution C T intron_variant SKCA-BR 19 45773312 45773312 single base substitution C T upstream_gene_variant SKCA-BR 19 45778080 45778080 single base substitution C T downstream_gene_variant SKCA-BR 19 45778080 45778080 single base substitution C T intron_variant SKCA-BR 19 45780691 45780691 insertion of <=200bp - ATT intron_variant SKCA-BR 19 45780691 45780691 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 19 45781081 45781083 deletion of <=200bp TTG - intron_variant SKCA-BR 19 45781081 45781083 deletion of <=200bp TTG - upstream_gene_variant SKCA-BR 19 45781399 45781399 single base substitution C T intron_variant SKCA-BR 19 45781399 45781399 single base substitution C T upstream_gene_variant SKCA-BR 19 45782164 45782164 single base substitution A T intron_variant SKCA-BR 19 45782164 45782164 single base substitution A T upstream_gene_variant SKCA-BR 19 45784345 45784345 single base substitution C T downstream_gene_variant SKCA-BR 19 45784345 45784345 single base substitution C T intron_variant SKCA-BR 19 45786555 45786555 single base substitution T C downstream_gene_variant SKCA-BR 19 45786555 45786555 single base substitution T C intron_variant SKCA-BR 19 45787123 45787123 single base substitution C T downstream_gene_variant SKCA-BR 19 45787123 45787123 single base substitution C T intron_variant SKCA-BR 19 45787463 45787463 single base substitution A C downstream_gene_variant SKCA-BR 19 45787463 45787463 single base substitution A C intron_variant SKCA-BR 19 45790643 45790643 single base substitution C T intron_variant SKCA-BR 19 45790644 45790644 single base substitution C G intron_variant SKCA-BR 19 45791378 45791378 single base substitution C T downstream_gene_variant SKCA-BR 19 45791378 45791378 single base substitution C T exon_variant SKCA-BR 19 45791378 45791378 single base substitution C T intron_variant SKCA-BR 19 45791587 45791587 single base substitution G A downstream_gene_variant SKCA-BR 19 45791587 45791587 single base substitution G A exon_variant SKCA-BR 19 45791587 45791587 single base substitution G A intron_variant SKCA-BR 19 45793186 45793186 single base substitution C T downstream_gene_variant SKCA-BR 19 45793186 45793186 single base substitution C T intron_variant SKCA-BR 19 45797092 45797092 single base substitution A C intron_variant SKCA-BR 19 45797593 45797593 single base substitution T C intron_variant SKCA-BR 19 45798382 45798382 single base substitution T G intron_variant SKCA-BR 19 45798799 45798799 single base substitution G A intron_variant SKCA-BR 19 45798915 45798915 single base substitution C T intron_variant SKCA-BR 19 45799590 45799590 single base substitution G A intron_variant SKCA-BR 19 45801078 45801078 single base substitution T G synonymous_variant G581G 1743T>G SKCA-BR 19 45805826 45805826 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 45805826 45805826 single base substitution C T missense_variant P706L 2117C>T SKCA-BR 19 45806209 45806209 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 45806641 45806641 single base substitution G T 3_prime_UTR_variant SKCA-BR 19 45806766 45806766 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 45806772 45806772 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 45811121 45811121 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 19 45812485 45812486 deletion of <=200bp CA - downstream_gene_variant SKCM-US 19 45579360 45579360 single base substitution C T upstream_gene_variant SKCM-US 19 45579435 45579435 single base substitution G A upstream_gene_variant SKCM-US 19 45579557 45579557 single base substitution C T upstream_gene_variant SKCM-US 19 45593548 45593548 single base substitution G A intron_variant SKCM-US 19 45593555 45593555 single base substitution C T intron_variant SKCM-US 19 45668147 45668147 single base substitution G A intron_variant SKCM-US 19 45668210 45668210 single base substitution C T intron_variant SKCM-US 19 45668431 45668431 single base substitution C T intron_variant SKCM-US 19 45683139 45683139 single base substitution G A intron_variant SKCM-US 19 45716535 45716535 single base substitution C T intron_variant SKCM-US 19 45716581 45716581 single base substitution C T intron_variant SKCM-US 19 45728116 45728116 single base substitution C T intron_variant SKCM-US 19 45728119 45728119 single base substitution G A intron_variant SKCM-US 19 45730953 45730953 single base substitution G A intron_variant SKCM-US 19 45731010 45731010 single base substitution C T intron_variant SKCM-US 19 45731469 45731469 single base substitution C T intron_variant SKCM-US 19 45731474 45731474 single base substitution G A intron_variant SKCM-US 19 45762272 45762272 single base substitution C T 5_prime_UTR_variant SKCM-US 19 45762272 45762272 single base substitution C T intron_variant SKCM-US 19 45762272 45762272 single base substitution C T missense_variant S26F 77C>T SKCM-US 19 45762272 45762272 single base substitution C T upstream_gene_variant SKCM-US 19 45762442 45762442 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 19 45762442 45762442 single base substitution C T intron_variant SKCM-US 19 45762442 45762442 single base substitution C T missense_variant R83W 247C>T SKCM-US 19 45762442 45762442 single base substitution C T upstream_gene_variant SKCM-US 19 45766591 45766591 single base substitution C T 5_prime_UTR_variant SKCM-US 19 45766591 45766591 single base substitution C T exon_variant SKCM-US 19 45766591 45766591 single base substitution C T intron_variant SKCM-US 19 45766591 45766591 single base substitution C T synonymous_variant V107V 321C>T SKCM-US 19 45766591 45766591 single base substitution C T upstream_gene_variant SKCM-US 19 45767988 45767988 single base substitution G A exon_variant SKCM-US 19 45767988 45767988 single base substitution G A intron_variant SKCM-US 19 45767988 45767988 single base substitution G A synonymous_variant V134V 402G>A SKCM-US 19 45767988 45767988 single base substitution G A synonymous_variant V25V 75G>A SKCM-US 19 45768113 45768113 single base substitution A T exon_variant SKCM-US 19 45768113 45768113 single base substitution A T intron_variant SKCM-US 19 45768113 45768113 single base substitution A T missense_variant Y146F 437A>T SKCM-US 19 45768113 45768113 single base substitution A T missense_variant Y37F 110A>T SKCM-US 19 45768122 45768122 single base substitution C T exon_variant SKCM-US 19 45768122 45768122 single base substitution C T intron_variant SKCM-US 19 45768122 45768122 single base substitution C T missense_variant S149L 446C>T SKCM-US 19 45768122 45768122 single base substitution C T missense_variant S40L 119C>T SKCM-US 19 45774924 45774924 single base substitution C T exon_variant SKCM-US 19 45774924 45774924 single base substitution C T intron_variant SKCM-US 19 45774924 45774924 single base substitution C T synonymous_variant T248T 744C>T SKCM-US 19 45783846 45783846 single base substitution G A 3_prime_UTR_variant SKCM-US 19 45783846 45783846 single base substitution G A exon_variant SKCM-US 19 45783846 45783846 single base substitution G A missense_variant R377Q 1130G>A SKCM-US 19 45805651 45805651 single base substitution C T stop_gained Q648* 1942C>T SKCM-US 19 45805651 45805651 single base substitution C T synonymous_variant I674I 2022C>T SKCM-US 19 45805827 45805827 single base substitution C G 3_prime_UTR_variant SKCM-US 19 45805827 45805827 single base substitution C G synonymous_variant P706P 2118C>G SKCM-US 19 45810756 45810756 single base substitution C T downstream_gene_variant SKCM-US 19 45811753 45811753 single base substitution C T downstream_gene_variant STAD-US 19 45593386 45593386 single base substitution T C intron_variant STAD-US 19 45593471 45593471 single base substitution C A intron_variant STAD-US 19 45593631 45593631 single base substitution C T intron_variant STAD-US 19 45593700 45593700 single base substitution C T intron_variant STAD-US 19 45655437 45655437 single base substitution C T intron_variant STAD-US 19 45655517 45655517 single base substitution G A intron_variant STAD-US 19 45655788 45655788 single base substitution A T intron_variant STAD-US 19 45655847 45655847 single base substitution G A intron_variant STAD-US 19 45655872 45655872 single base substitution C T intron_variant STAD-US 19 45655873 45655873 single base substitution G A intron_variant STAD-US 19 45655898 45655898 single base substitution C A intron_variant STAD-US 19 45656240 45656240 single base substitution C T intron_variant STAD-US 19 45656571 45656571 single base substitution C T intron_variant STAD-US 19 45667454 45667454 single base substitution A T intron_variant STAD-US 19 45668181 45668181 single base substitution T A intron_variant STAD-US 19 45716496 45716496 deletion of <=200bp G - intron_variant STAD-US 19 45731000 45731000 single base substitution C A intron_variant STAD-US 19 45731456 45731456 single base substitution G A intron_variant STAD-US 19 45762390 45762390 single base substitution T C 5_prime_UTR_variant STAD-US 19 45762390 45762390 single base substitution T C intron_variant STAD-US 19 45762390 45762390 single base substitution T C synonymous_variant I65I 195T>C STAD-US 19 45762390 45762390 single base substitution T C upstream_gene_variant STAD-US 19 45766584 45766584 single base substitution G A 5_prime_UTR_variant STAD-US 19 45766584 45766584 single base substitution G A exon_variant STAD-US 19 45766584 45766584 single base substitution G A intron_variant STAD-US 19 45766584 45766584 single base substitution G A missense_variant R105Q 314G>A STAD-US 19 45766584 45766584 single base substitution G A upstream_gene_variant STAD-US 19 45783878 45783878 single base substitution C T 3_prime_UTR_variant STAD-US 19 45783878 45783878 single base substitution C T exon_variant STAD-US 19 45783878 45783878 single base substitution C T missense_variant R388W 1162C>T STAD-US 19 45797635 45797635 single base substitution G A missense_variant R508H 1523G>A STAD-US 19 45797677 45797677 single base substitution G A missense_variant R522H 1565G>A STAD-US 19 45801008 45801008 single base substitution G A missense_variant R558H 1673G>A STAD-US 19 45805630 45805630 single base substitution A G splice_acceptor_variant STAD-US 19 45805809 45805809 single base substitution C T 3_prime_UTR_variant STAD-US 19 45805809 45805809 single base substitution C T synonymous_variant H700H 2100C>T STAD-US 19 45805817 45805817 single base substitution C T 3_prime_UTR_variant STAD-US 19 45805817 45805817 single base substitution C T missense_variant A703V 2108C>T STAD-US 19 45810056 45810058 deletion of <=200bp CTT - downstream_gene_variant STAD-US 19 45810167 45810167 single base substitution G A downstream_gene_variant THCA-SA 19 45579615 45579615 single base substitution G T upstream_gene_variant THCA-SA 19 45594170 45594170 single base substitution A G intron_variant THCA-SA 19 45594595 45594595 single base substitution T C intron_variant THCA-SA 19 45716192 45716192 single base substitution G C intron_variant THCA-SA 19 45716197 45716197 single base substitution A G intron_variant THCA-SA 19 45774875 45774875 deletion of <=200bp A - exon_variant THCA-SA 19 45774875 45774875 deletion of <=200bp A - frameshift_variant Y232 THCA-SA 19 45774875 45774875 deletion of <=200bp A - intron_variant THCA-SA 19 45806609 45806609 single base substitution A G 3_prime_UTR_variant THCA-SA 19 45808142 45808142 single base substitution T G 3_prime_UTR_variant THCA-SA 19 45808142 45808142 single base substitution T G downstream_gene_variant THCA-SA 19 45810035 45810035 single base substitution A G downstream_gene_variant THCA-SA 19 45810829 45810829 single base substitution T C downstream_gene_variant THCA-US 19 45668203 45668203 single base substitution T C intron_variant THCA-US 19 45716591 45716591 single base substitution G A intron_variant THCA-US 19 45721473 45721473 single base substitution C T intron_variant THCA-US 19 45731482 45731482 single base substitution C T intron_variant UCEC-US 19 45593596 45593596 single base substitution G A intron_variant UCEC-US 19 45593627 45593627 single base substitution T C intron_variant UCEC-US 19 45593658 45593658 single base substitution G A intron_variant UCEC-US 19 45655375 45655375 single base substitution G A intron_variant UCEC-US 19 45656197 45656197 single base substitution C T intron_variant UCEC-US 19 45656399 45656401 deletion of <=200bp CTT - intron_variant UCEC-US 19 45667269 45667269 single base substitution T C intron_variant UCEC-US 19 45667457 45667457 single base substitution C T intron_variant UCEC-US 19 45668202 45668202 single base substitution C A intron_variant UCEC-US 19 45668410 45668410 single base substitution G A intron_variant UCEC-US 19 45716340 45716340 single base substitution C T intron_variant UCEC-US 19 45728068 45728068 single base substitution C T intron_variant UCEC-US 19 45731000 45731000 single base substitution C T intron_variant UCEC-US 19 45731255 45731255 single base substitution G A intron_variant UCEC-US 19 45762308 45762308 single base substitution T C 5_prime_UTR_variant UCEC-US 19 45762308 45762308 single base substitution T C intron_variant UCEC-US 19 45762308 45762308 single base substitution T C missense_variant L38P 113T>C UCEC-US 19 45762308 45762308 single base substitution T C upstream_gene_variant UCEC-US 19 45762361 45762361 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 19 45762361 45762361 single base substitution G A intron_variant UCEC-US 19 45762361 45762361 single base substitution G A missense_variant V56M 166G>A UCEC-US 19 45762361 45762361 single base substitution G A upstream_gene_variant UCEC-US 19 45766388 45766388 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 19 45766388 45766388 single base substitution C T exon_variant UCEC-US 19 45766388 45766388 single base substitution C T intron_variant UCEC-US 19 45766388 45766388 single base substitution C T synonymous_variant I90I 270C>T UCEC-US 19 45766388 45766388 single base substitution C T upstream_gene_variant UCEC-US 19 45774876 45774876 single base substitution C T exon_variant UCEC-US 19 45774876 45774876 single base substitution C T intron_variant UCEC-US 19 45774876 45774876 single base substitution C T synonymous_variant Y232Y 696C>T UCEC-US 19 45774910 45774910 single base substitution G T exon_variant UCEC-US 19 45774910 45774910 single base substitution G T intron_variant UCEC-US 19 45774910 45774910 single base substitution G T missense_variant V244F 730G>T UCEC-US 19 45781245 45781245 single base substitution A T exon_variant UCEC-US 19 45781245 45781245 single base substitution A T intron_variant UCEC-US 19 45781245 45781245 single base substitution A T missense_variant E284V 851A>T UCEC-US 19 45781245 45781245 single base substitution A T upstream_gene_variant UCEC-US 19 45781813 45781813 single base substitution G T 3_prime_UTR_variant UCEC-US 19 45781813 45781813 single base substitution G T exon_variant UCEC-US 19 45781813 45781813 single base substitution G T intron_variant UCEC-US 19 45781813 45781813 single base substitution G T missense_variant G316C 946G>T UCEC-US 19 45781813 45781813 single base substitution G T upstream_gene_variant UCEC-US 19 45790815 45790815 single base substitution G T 3_prime_UTR_variant UCEC-US 19 45790815 45790815 single base substitution G T exon_variant UCEC-US 19 45790815 45790815 single base substitution G T missense_variant G463W 1387G>T UCEC-US 19 45810871 45810871 single base substitution A G downstream_gene_variant UCEC-US 19 45810883 45810883 single base substitution C T downstream_gene_variant UCEC-US 19 45810897 45810897 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-0125-02 COSM2149374 c.794G>A p.R265Q Substitution - Missense 19:45277930-45277930 + OSCC-GB_00700111 COSM4890763 c.789G>T p.E263D Substitution - Missense 19:45277925-45277925 + Pat_70_B COSM1394580 c.2035delC p.G681fs*>8 Deletion - Frameshift 19:45302406-45302406 + TCGA-D5-6540-01 COSM1394580 c.2035delC p.G681fs*>8 Deletion - Frameshift 19:45302406-45302406 + TCGA-G4-6588-01 COSM1394566 c.654delC p.P220fs*74 Deletion - Frameshift 19:45271576-45271576 + TCGA-A5-A0GE-01 COSM1153397 c.730G>T p.V244F Substitution - Missense 19:45271652-45271652 + TCGA-EE-A2GO-06 COSM3535876 c.437A>T p.Y146F Substitution - Missense 19:45264855-45264855 + S02351 COSM5669624 c.1752T>G p.G584G Substitution - coding silent 19:45297829-45297829 + S01542 COSM5555766 c.1743T>G p.G581G Substitution - coding silent 19:45297820-45297820 + 8061181 COSM4389799 c.1932C>T p.A644A Substitution - coding silent 19:45298197-45298197 + TCGA-G4-6320-01 COSM3692873 c.771C>T p.D257D Substitution - coding silent 19:45271693-45271693 + TCGA-B7-5816-01 COSM4079323 c.1565G>A p.R522H Substitution - Missense 19:45294419-45294419 + MCF7 COSM1681125 c.1100T>A p.L367Q Substitution - Missense 19:45280467-45280467 + TCGA-BR-8078-01 COSM4079316 c.195T>C p.I65I Substitution - coding silent 19:45259132-45259132 + RK140_C01 COSM3701511 c.1021A>G p.M341V Substitution - Missense 19:45280388-45280388 + CSCC-49-T COSM4472443 c.1784C>T p.P595L Substitution - Missense 19:45297861-45297861 + CAL33 COSM4594271 c.2245G>A p.D749N Substitution - Missense 19:45302696-45302696 + Au1 COSM5597064 c.322C>T p.R108C Substitution - Missense 19:45263334-45263334 + TCGA-CG-5733-01 COSM4079322 c.1523G>A p.R508H Substitution - Missense 19:45294377-45294377 + PT37 COSM5921471 c.2038C>T p.P680S Substitution - Missense 19:45302409-45302409 + YUPADI COSM1686290 c.512A>T p.Y171F Substitution - Missense 19:45266244-45266244 + 07-P075 COSM4581207 c.1612C>T p.R538W Substitution - Missense 19:45297689-45297689 + TP_2061 COSM5555766 c.1743T>G p.G581G Substitution - coding silent 19:45297820-45297820 + pfg143T COSM1394579 c.1955delC p.R654fs*9 Deletion - Frameshift 19:45302406-45302406 + UPCI:SCC090 COSM3103901 c.446C>G p.S149W Substitution - Missense 19:45264864-45264864 + TARGET-30-PAPZYZ COSM1286101 c.700G>A p.G234R Substitution - Missense 19:45271622-45271622 + TCGA-BR-7851-01 COSM4079318 c.314G>A p.R105Q Substitution - Missense 19:45263326-45263326 + ME043 COSM1167500 c.1286delC p.P430fs*18 Deletion - Frameshift 19:45287456-45287456 + C086 COSM5534292 c.1508C>T p.P503L Substitution - Missense 19:45294362-45294362 + TCGA-A5-A0GE-01 COSM998162 c.730G>T p.V244F Substitution - Missense 19:45271652-45271652 + OSCC-GB_01360111 COSM5955562 c.1463C>A p.P488Q Substitution - Missense 19:45287633-45287633 + 8015109 COSM3389134 c.2060G>A p.R687H Substitution - Missense 19:45302511-45302511 + BHY COSM4592624 c.1667G>A p.R556Q Substitution - Missense 19:45297744-45297744 + TCGA-CK-5913-01 COSM1394572 c.1325C>T p.T442M Substitution - Missense 19:45287495-45287495 + TCGA-CG-5733-01 COSM4079321 c.1523G>A p.R508H Substitution - Missense 19:45294377-45294377 + B90 COSM1750975 c.1561G>T p.E521* Substitution - Nonsense 19:45294415-45294415 + T3182 COSM1394564 c.500C>T p.S167L Substitution - Missense 19:45266232-45266232 + TCGA-BR-6852-01 COSM4079320 c.1162C>T p.R388W Substitution - Missense 19:45280620-45280620 + TCGA-D5-6928-01 COSM1394568 c.891A>G p.K297K Substitution - coding silent 19:45278027-45278027 + MCF7 COSM1681128 c.1102G>C p.G368R Substitution - Missense 19:45280469-45280469 + TCGA-GV-A3JX-01 COSM1304768 c.2083C>T p.L695L Substitution - coding silent 19:45302534-45302534 + HCC055T COSM5823985 c.1241C>T p.S414F Substitution - Missense 19:45280699-45280699 + TCGA-CM-6171-01 COSM1394575 c.1696C>T p.R566C Substitution - Missense 19:45297773-45297773 + CSCC-30-T COSM4527333 c.1456G>C p.E486Q Substitution - Missense 19:45287626-45287626 + PCSI_0102_Pa_P COSM216460 c.1464A>C p.P488P Substitution - coding silent 19:45287634-45287634 + LC_C9 COSM1190082 c.1741G>C p.G581R Substitution - Missense 19:45297818-45297818 + Pat_06_A COSM5856147 c.1726G>A p.D576N Substitution - Missense 19:45297803-45297803 + HCT116 COSM4632218 c.1385C>T p.A462V Substitution - Missense 19:45287555-45287555 + 1517_CLM COSM1394579 c.1955delC p.R654fs*9 Deletion - Frameshift 19:45302406-45302406 + LS-1034 COSM20391 c.1252C>T p.R418C Substitution - Missense 19:45280710-45280710 + R104 COSM308077 c.320T>A p.V107D Substitution - Missense 19:45263332-45263332 + KM12 COSM1681119 c.107G>A p.R36H Substitution - Missense 19:45259044-45259044 + C086 COSM5534290 c.1507C>T p.P503S Substitution - Missense 19:45294361-45294361 + KM12 COSM1681120 c.107G>A p.R36H Substitution - Missense 19:45259044-45259044 + KM12 COSM1681119 c.107G>A p.R36H Substitution - Missense 19:45259044-45259044 + TCGA-CA-6716-01 COSM1394573 c.1352G>A p.R451Q Substitution - Missense 19:45287522-45287522 + I2L-P19Ta-Tumor-Biopsy COSM5365041 c.558C>T p.N186N Substitution - coding silent 19:45271480-45271480 + TP_2061 COSM5555765 c.1743T>G p.G581G Substitution - coding silent 19:45297820-45297820 + TCGA-FS-A4FD-06 COSM3535874 c.402G>A p.V134V Substitution - coding silent 19:45264730-45264730 + TARGET-30-PAPZYZ COSM1286102 c.700G>A p.G234R Substitution - Missense 19:45271622-45271622 + HCC001T COSM5808896 c.2002+1G>A p.? Unknown 19:45299856-45299856 + 1001 COSM5730479 c.2118_2119insG p.E707fs*>47 Insertion - Frameshift 19:45302569-45302570 + LIM1899 COSM4640224 c.630G>A p.S210S Substitution - coding silent 19:45271552-45271552 + PET100T COSM4963683 c.697G>A p.D233N Substitution - Missense 19:45271619-45271619 + TCGA-EE-A20C-06 COSM3535873 c.321C>T p.V107V Substitution - coding silent 19:45263333-45263333 + TCGA-GC-A3BM-01 COSM3797250 c.1011G>A p.V337V Substitution - coding silent 19:45280378-45280378 + TCGA-BP-5187-01 COSM1136218 c.1633T>C p.S545P Substitution - Missense 19:45297710-45297710 + CHC2039Tbis COSM4788170 c.1682G>T p.R561L Substitution - Missense 19:45297759-45297759 + TCGA-EE-A29V-06 COSM3535878 c.744C>T p.T248T Substitution - coding silent 19:45271666-45271666 + M14 COSM1681124 c.1097T>G p.L366R Substitution - Missense 19:45280464-45280464 + 587256 COSM1214583 c.1102G>A p.G368S Substitution - Missense 19:45280469-45280469 + TCGA-AZ-6598-01 COSM1394577 c.1831C>A p.P611T Substitution - Missense 19:45297908-45297908 + CSCC-44-T COSM4559552 c.809G>A p.R270K Substitution - Missense 19:45277945-45277945 + sysucc-274T COSM5476087 c.1929C>T p.G643G Substitution - coding silent 19:45298194-45298194 + TCGA-CK-5913-01 COSM1394571 c.1325C>T p.T442M Substitution - Missense 19:45287495-45287495 + TCGA-DR-A0ZM-01 COSM1134509 c.999G>C p.K333N Substitution - Missense 19:45278608-45278608 + CHC2039Tbis COSM4788169 c.1682G>T p.R561L Substitution - Missense 19:45297759-45297759 + Au1 COSM5597065 c.322C>T p.R108C Substitution - Missense 19:45263334-45263334 + TCGA-ER-A19E-06 COSM3103904 c.446C>T p.S149L Substitution - Missense 19:45264864-45264864 + RK140_C01 COSM3701510 c.1021A>G p.M341V Substitution - Missense 19:45280388-45280388 + TCGA-GF-A3OT-06 COSM3535870 c.247C>T p.R83W Substitution - Missense 19:45259184-45259184 + TCGA-EE-A29V-06 COSM3535879 c.744C>T p.T248T Substitution - coding silent 19:45271666-45271666 + TCGA-G4-6321-01 COSM3756951 c.1683T>C p.R561R Substitution - coding silent 19:45297760-45297760 + I2L-P19Ta-Tumor-Organoid COSM5365040 c.558C>T p.N186N Substitution - coding silent 19:45271480-45271480 + PD4115a COSM3664843 c.1035G>A p.R345R Substitution - coding silent 19:45280402-45280402 + CSCC-27-T COSM4472279 c.1772C>T p.P591L Substitution - Missense 19:45297849-45297849 + TCGA-FD-A3SL-01 COSM3797247 c.387G>A p.K129K Substitution - coding silent 19:45264715-45264715 + TCGA-BG-A0VX-01 COSM1153396 c.270C>T p.I90I Substitution - coding silent 19:45263130-45263130 + B88-Tumor COSM1750973 c.139G>A p.A47T Substitution - Missense 19:45259076-45259076 + NPC41F COSM4995938 c.374T>C p.I125T Substitution - Missense 19:45264702-45264702 + TCGA-G4-6321-01 COSM3756952 c.1683T>C p.R561R Substitution - coding silent 19:45297760-45297760 + TCGA-66-2785-01 COSM712360 c.1974G>C p.L658L Substitution - coding silent 19:45299827-45299827 + TCGA-DK-A1A6-01 COSM1304766 c.637G>C p.D213H Substitution - Missense 19:45271559-45271559 + LOVO COSM4645354 c.1884C>A p.T628T Substitution - coding silent 19:45298149-45298149 + PCSI_0102_Pa_P_526 COSM4965443 c.1464A>C p.P488P Substitution - coding silent 19:45287634-45287634 + TCGA-06-0125 COSM2149375 c.794G>A p.R265Q Substitution - Missense 19:45277930-45277930 + PT14_1 COSM5390097 c.149C>T p.P50L Substitution - Missense 19:45259086-45259086 + 1517_PT COSM1394580 c.2035delC p.G681fs*>8 Deletion - Frameshift 19:45302406-45302406 + ME043 COSM1167501 c.1286delC p.P430fs*18 Deletion - Frameshift 19:45287456-45287456 + TCGA-AZ-4615-01 COSM3756952 c.1683T>C p.R561R Substitution - coding silent 19:45297760-45297760 + S02353 COSM5669624 c.1752T>G p.G584G Substitution - coding silent 19:45297829-45297829 + PET100T COSM4963684 c.697G>A p.D233N Substitution - Missense 19:45271619-45271619 + 1517_CLM COSM5755407 c.1319C>T p.T440M Substitution - Missense 19:45287489-45287489 + CSCC-44-T COSM4559553 c.809G>A p.R270K Substitution - Missense 19:45277945-45277945 + TCGA-DK-A3WW-01 COSM3797249 c.864G>A p.R288R Substitution - coding silent 19:45278000-45278000 + TCGA-BR-8289-01 COSM4079326 c.1673G>A p.R558H Substitution - Missense 19:45297750-45297750 + TCGA-HU-A4GU-01 COSM4079330 c.2108C>T p.A703V Substitution - Missense 19:45302559-45302559 + T2999 COSM4700737 c.150C>T p.P50P Substitution - coding silent 19:45259087-45259087 + TCGA-23-1120-01 COSM115834 c.1050G>T p.E350D Substitution - Missense 19:45280417-45280417 + C058 COSM5525228 c.238C>T p.L80F Substitution - Missense 19:45259175-45259175 + Pat_45_A COSM5856144 c.1462C>T p.P488S Substitution - Missense 19:45287632-45287632 + 2492721 COSM5722983 c.1884C>T p.T628T Substitution - coding silent 19:45298149-45298149 + HCT8 COSM4634426 c.1822C>T p.R608W Substitution - Missense 19:45297899-45297899 + TCGA-DR-A0ZM-01 COSM459939 c.999G>C p.K333N Substitution - Missense 19:45278608-45278608 + TCGA-BH-A0B6-01 COSM3823406 c.151G>A p.E51K Substitution - Missense 19:45259088-45259088 + J46_T COSM3960198 c.1404G>A p.G468G Substitution - coding silent 19:45287574-45287574 + S02353 COSM5669623 c.1752T>G p.G584G Substitution - coding silent 19:45297829-45297829 + MB_Exm575 COSM215782 c.700G>T p.G234W Substitution - Missense 19:45271622-45271622 + TCGA-EE-A20C-06 COSM3535872 c.321C>T p.V107V Substitution - coding silent 19:45263333-45263333 + I2L-P7-Tumor-Organoid COSM5365571 c.2173C>T p.R725W Substitution - Missense 19:45302624-45302624 + B90 COSM1750976 c.1561G>T p.E521* Substitution - Nonsense 19:45294415-45294415 + sysucc-311T COSM5464623 c.1400G>A p.R467Q Substitution - Missense 19:45287570-45287570 + Hs-578-T COSM1681125 c.1100T>A p.L367Q Substitution - Missense 19:45280467-45280467 + MCF7 COSM1681121 c.1094T>A p.L365H Substitution - Missense 19:45280461-45280461 + B88 COSM1750973 c.139G>A p.A47T Substitution - Missense 19:45259076-45259076 + TCGA-CC-A7IK-01 COSM4924755 c.1064A>T p.Q355L Substitution - Missense 19:45280431-45280431 + YUDEXA COSM1712495 c.653G>A p.S218N Substitution - Missense 19:45271575-45271575 + PTC_285 COSM5958719 c.695delA p.Y232fs*62 Deletion - Frameshift 19:45271617-45271617 + EGC3 COSM5056767 c.2001G>A p.S667S Substitution - coding silent 19:45302452-45302452 + ITNET_0100_T COSM4963684 c.697G>A p.D233N Substitution - Missense 19:45271619-45271619 + CRC-02T COSM5454746 c.1067A>C p.K356T Substitution - Missense 19:45280434-45280434 + 2492723 COSM5722983 c.1884C>T p.T628T Substitution - coding silent 19:45298149-45298149 + TCGA-ER-A19E-06 COSM3103903 c.446C>T p.S149L Substitution - Missense 19:45264864-45264864 + BD236T COSM5519681 c.324C>T p.R108R Substitution - coding silent 19:45263336-45263336 + SNUH_G40_S1 COSM3680966 c.1936T>G p.W646G Substitution - Missense 19:45302387-45302387 + sysucc-867T COSM4079324 c.1565G>A p.R522H Substitution - Missense 19:45294419-45294419 + Pat_70_A COSM5856145 c.1568C>T p.P523L Substitution - Missense 19:45294422-45294422 + SNUH_G15_S1 COSM3680968 c.1993A>C p.T665P Substitution - Missense 19:45302444-45302444 + TCGA-EI-6917-01 COSM3422925 c.1357C>T p.P453S Substitution - Missense 19:45287527-45287527 + MD-212 COSM302620 c.697G>C p.D233H Substitution - Missense 19:45271619-45271619 + 8067242 COSM4388716 c.1293A>C p.A431A Substitution - coding silent 19:45287463-45287463 + CRC-06T COSM5456752 c.2031G>A p.L677L Substitution - coding silent 19:45302482-45302482 + 19M COSM5578950 c.2117C>T p.P706L Substitution - Missense 19:45302568-45302568 + TCGA-06-0219-01 COSM3404379 c.774G>A p.G258G Substitution - coding silent 19:45271696-45271696 + KM12 COSM1681120 c.107G>A p.R36H Substitution - Missense 19:45259044-45259044 + Au4 COSM5604054 c.1412C>T p.P471L Substitution - Missense 19:45287582-45287582 + TCGA-AP-A059-01 COSM1590142 c.946G>T p.G316C Substitution - Missense 19:45278555-45278555 + CSCC-30-T COSM4527332 c.1456G>C p.E486Q Substitution - Missense 19:45287626-45287626 + HCT8 COSM4634425 c.1822C>T p.R608W Substitution - Missense 19:45297899-45297899 + M14 COSM1681122 c.1094T>A p.L365H Substitution - Missense 19:45280461-45280461 + S01542 COSM5555765 c.1743T>G p.G581G Substitution - coding silent 19:45297820-45297820 + TCGA-DK-A1A6-01 COSM1304767 c.637G>C p.D213H Substitution - Missense 19:45271559-45271559 + PT14_1 COSM5390096 c.149C>T p.P50L Substitution - Missense 19:45259086-45259086 + TCGA-BR-8078-01 COSM4079315 c.195T>C p.I65I Substitution - coding silent 19:45259132-45259132 + I2L-P19Ta-Tumor-Biopsy COSM5365040 c.558C>T p.N186N Substitution - coding silent 19:45271480-45271480 + TCGA-AA-3697-01 COSM3756952 c.1683T>C p.R561R Substitution - coding silent 19:45297760-45297760 + TCGA-AP-A059-01 COSM998166 c.946G>T p.G316C Substitution - Missense 19:45278555-45278555 + T3724 COSM1394579 c.1955delC p.R654fs*9 Deletion - Frameshift 19:45302406-45302406 + TCGA-G4-6307-01 COSM1394562 c.8C>T p.S3L Substitution - Missense 19:45251596-45251596 + CSCC-44-T COSM4475269 c.2055C>T p.S685S Substitution - coding silent 19:45302426-45302426 + TCGA-CA-6717-01 COSM1394563 c.500C>T p.S167L Substitution - Missense 19:45266232-45266232 + MCF7 COSM1681124 c.1097T>G p.L366R Substitution - Missense 19:45280464-45280464 + HCT116 COSM4632219 c.1385C>T p.A462V Substitution - Missense 19:45287555-45287555 + T36 COSM4700744 c.1551C>T p.R517R Substitution - coding silent 19:45294405-45294405 + TARGET-30-PARASL COSM1286103 c.2118C>G p.P706P Substitution - coding silent 19:45302569-45302569 + TCGA-EE-A3AF-06 COSM3535872 c.321C>T p.V107V Substitution - coding silent 19:45263333-45263333 + CSCC-27-T COSM4472278 c.1772C>T p.P591L Substitution - Missense 19:45297849-45297849 + ESCC_123 COSM5640901 c.620C>T p.T207M Substitution - Missense 19:45271542-45271542 + TCGA-BP-5187-01 COSM474915 c.1633T>C p.S545P Substitution - Missense 19:45297710-45297710 + YUTEPA COSM1686289 c.73C>T p.R25C Substitution - Missense 19:45259010-45259010 + pfg181T COSM4754228 c.1697G>A p.R566H Substitution - Missense 19:45297774-45297774 + EGC15 COSM5056765 c.179G>A p.R60H Substitution - Missense 19:45259116-45259116 + SC_9008 COSM5564633 c.488G>A p.R163Q Substitution - Missense 19:45264906-45264906 + 587224 COSM1214580 c.1259G>A p.R420H Substitution - Missense 19:45280717-45280717 + Pat_70_B COSM5856146 c.1568C>T p.P523L Substitution - Missense 19:45294422-45294422 + TCGA-66-2791-01 COSM712361 c.809G>C p.R270T Substitution - Missense 19:45277945-45277945 + 8067242 COSM4388715 c.1293A>C p.A431A Substitution - coding silent 19:45287463-45287463 + Hs-578-T COSM1681126 c.1100T>A p.L367Q Substitution - Missense 19:45280467-45280467 + M14 COSM1681128 c.1102G>C p.G368R Substitution - Missense 19:45280469-45280469 + B88-Tumor COSM1750974 c.139G>A p.A47T Substitution - Missense 19:45259076-45259076 + TCGA-G5-6641-01 COSM1564359 c.1229G>A p.R410Q Substitution - Missense 19:45280687-45280687 + T2197 COSM4700748 c.2034_2035insC p.G681fs*>9 Insertion - Frameshift 19:45302405-45302406 + 1517_PT COSM5755408 c.1319C>T p.T440M Substitution - Missense 19:45287489-45287489 + TCGA-AP-A0LE-01 COSM1153399 c.1387G>T p.G463W Substitution - Missense 19:45287557-45287557 + TCGA-BR-6852-01 COSM4079319 c.1162C>T p.R388W Substitution - Missense 19:45280620-45280620 + TCGA-FS-A4F0-06 COSM3535880 c.1130G>A p.R377Q Substitution - Missense 19:45280588-45280588 + TCGA-CM-6171-01 COSM1394576 c.1696C>T p.R566C Substitution - Missense 19:45297773-45297773 + 1517_PT COSM1394579 c.1955delC p.R654fs*9 Deletion - Frameshift 19:45302406-45302406 + 07-P075 COSM4581208 c.1612C>T p.R538W Substitution - Missense 19:45297689-45297689 + SC_9008 COSM5564632 c.488G>A p.R163Q Substitution - Missense 19:45264906-45264906 + HCC055T COSM5823986 c.1241C>T p.S414F Substitution - Missense 19:45280699-45280699 + CCK81 COSM4620748 c.1666C>T p.R556W Substitution - Missense 19:45297743-45297743 + YULOVY COSM1686293 c.1304C>T p.P435L Substitution - Missense 19:45287474-45287474 + Hs-578-T COSM1681123 c.1097T>G p.L366R Substitution - Missense 19:45280464-45280464 + CSCC-44-T COSM4475268 c.1975C>T p.P659S Substitution - Missense 19:45302426-45302426 + TCGA-DK-A3WW-01 COSM3797248 c.864G>A p.R288R Substitution - coding silent 19:45278000-45278000 + TCGA-G4-6320-01 COSM3692874 c.771C>T p.D257D Substitution - coding silent 19:45271693-45271693 + PCSI_0083_Pa_P_526 COSM3787718 c.2112C>T p.G704G Substitution - coding silent 19:45302563-45302563 + PTC-7C COSM4132122 c.833A>C p.Y278S Substitution - Missense 19:45277969-45277969 + M14 COSM1681127 c.1102G>C p.G368R Substitution - Missense 19:45280469-45280469 + sysucc-707T COSM5460080 c.2227G>A p.V743I Substitution - Missense 19:45302678-45302678 + TCGA-BR-8363-01 COSM4079329 c.2100C>T p.H700H Substitution - coding silent 19:45302551-45302551 + pfg181T COSM4754229 c.1697G>A p.R566H Substitution - Missense 19:45297774-45297774 + YUJUBE COSM5390096 c.149C>T p.P50L Substitution - Missense 19:45259086-45259086 + TCGA-66-2791-01 COSM1148207 c.809G>C p.R270T Substitution - Missense 19:45277945-45277945 + TCGA-EE-A2GP-06 COSM3535869 c.77C>T p.S26F Substitution - Missense 19:45259014-45259014 + Pat_70_B COSM1394579 c.1955delC p.R654fs*9 Deletion - Frameshift 19:45302406-45302406 + TCGA-22-4595-01 COSM190850 c.1563G>T p.E521D Substitution - Missense 19:45294417-45294417 + ESCC_3 COSM5622575 c.1207A>C p.T403P Substitution - Missense 19:45280665-45280665 + 587256 COSM1214582 c.1102G>A p.G368S Substitution - Missense 19:45280469-45280469 + TCGA-G4-6307-01 COSM1394561 c.8C>T p.S3L Substitution - Missense 19:45251596-45251596 + TCGA-AP-A0LM-01 COSM998160 c.696C>T p.Y232Y Substitution - coding silent 19:45271618-45271618 + T3498 COSM4700746 c.1628delC p.S545fs*75 Deletion - Frameshift 19:45297705-45297705 + STC252 COSM3823405 c.151G>A p.E51K Substitution - Missense 19:45259088-45259088 + TCGA-AA-3697-01 COSM3756951 c.1683T>C p.R561R Substitution - coding silent 19:45297760-45297760 + LC_C9 COSM1190081 c.1741G>C p.G581R Substitution - Missense 19:45297818-45297818 + PD9597a COSM5796796 c.699C>G p.D233E Substitution - Missense 19:45271621-45271621 + LS-1034 COSM20391 c.1252C>T p.R418C Substitution - Missense 19:45280710-45280710 + OST204PT COSM1732422 c.519C>A p.H173Q Substitution - Missense 19:45266251-45266251 + LIM1899 COSM4640225 c.630G>A p.S210S Substitution - coding silent 19:45271552-45271552 + TCGA-06-0125 COSM2149374 c.794G>A p.R265Q Substitution - Missense 19:45277930-45277930 + T3099 COSM4700741 c.818A>G p.Y273C Substitution - Missense 19:45277954-45277954 + T3454 COSM4700739 c.672G>A p.P224P Substitution - coding silent 19:45271594-45271594 + TCGA-06-0125-02 COSM2149375 c.794G>A p.R265Q Substitution - Missense 19:45277930-45277930 + TCGA-D1-A103-01 COSM998156 c.166G>A p.V56M Substitution - Missense 19:45259103-45259103 + 2492722 COSM5722983 c.1884C>T p.T628T Substitution - coding silent 19:45298149-45298149 + TCGA-G5-6641-01 COSM116823 c.1229G>A p.R410Q Substitution - Missense 19:45280687-45280687 + CSCC-27-T COSM4471931 c.174C>T p.N58N Substitution - coding silent 19:45259111-45259111 + S02139 COSM5674294 c.1962G>T p.S654S Substitution - coding silent 19:45299815-45299815 + TCGA-DC-4749-01 COSM3422926 c.1914C>G p.N638K Substitution - Missense 19:45298179-45298179 + SC_9048 COSM5568754 c.2053T>C p.S685P Substitution - Missense 19:45302424-45302424 + Au4 COSM5604055 c.1412C>T p.P471L Substitution - Missense 19:45287582-45287582 + 1517_CLM COSM1394580 c.2035delC p.G681fs*>8 Deletion - Frameshift 19:45302406-45302406 + TCGA-A3-3320-01 COSM1494384 c.1148C>A p.A383D Substitution - Missense 19:45280606-45280606 + CRC-02T COSM5454744 c.753C>T p.S251S Substitution - coding silent 19:45271675-45271675 + YUTEPA COSM1686288 c.73C>T p.R25C Substitution - Missense 19:45259010-45259010 + TCGA-BH-A0B6-01 COSM3823405 c.151G>A p.E51K Substitution - Missense 19:45259088-45259088 + SC_9048 COSM5568753 c.1973T>C p.F658S Substitution - Missense 19:45302424-45302424 + S02139 COSM5674293 c.1882G>T p.A628S Substitution - Missense 19:45299815-45299815 + TCGA-AP-A0LE-01 COSM998168 c.1387G>T p.G463W Substitution - Missense 19:45287557-45287557 + C608 COSM4442824 c.572C>T p.A191V Substitution - Missense 19:45271494-45271494 + DN1401C COSM5960780 c.697G>C p.D233H Substitution - Missense 19:45271619-45271619 + TCGA-CA-6717-01 COSM1394564 c.500C>T p.S167L Substitution - Missense 19:45266232-45266232 + T2417 COSM4700749 c.2000C>T p.S667L Substitution - Missense 19:45302451-45302451 + ESCC_123 COSM5640900 c.620C>T p.T207M Substitution - Missense 19:45271542-45271542 + TCGA-EI-6917-01 COSM3422924 c.1357C>T p.P453S Substitution - Missense 19:45287527-45287527 + S02351 COSM5669623 c.1752T>G p.G584G Substitution - coding silent 19:45297829-45297829 + EGC15 COSM5056766 c.179G>A p.R60H Substitution - Missense 19:45259116-45259116 + TCGA-AP-A0LM-01 COSM1590143 c.696C>T p.Y232Y Substitution - coding silent 19:45271618-45271618 + SNU-175 COSM1394576 c.1696C>T p.R566C Substitution - Missense 19:45297773-45297773 + TCGA-CG-4442-01 COSM4079328 c.2003-2A>G p.? Unknown 19:45302372-45302372 + 587224 COSM1214579 c.1259G>A p.R420H Substitution - Missense 19:45280717-45280717 + 8066461 COSM3773066 c.638A>G p.D213G Substitution - Missense 19:45271560-45271560 + YUJUBE COSM5390097 c.149C>T p.P50L Substitution - Missense 19:45259086-45259086 + TCGA-FW-A3R5-06 COSM1286103 c.2118C>G p.P706P Substitution - coding silent 19:45302569-45302569 + YUDIALE COSM1712497 c.1947G>A p.T649T Substitution - coding silent 19:45302398-45302398 + LUAD-S00486 COSM343253 c.1074C>T p.N358N Substitution - coding silent 19:45280441-45280441 + TCGA-F5-6814-01 COSM1394563 c.500C>T p.S167L Substitution - Missense 19:45266232-45266232 + CSCC-30-T COSM4527722 c.1485G>A p.T495T Substitution - coding silent 19:45287655-45287655 + J46_T COSM3960199 c.1404G>A p.G468G Substitution - coding silent 19:45287574-45287574 + T3454 COSM4700740 c.672G>A p.P224P Substitution - coding silent 19:45271594-45271594 + TCGA-FS-A4FD-06 COSM3535875 c.402G>A p.V134V Substitution - coding silent 19:45264730-45264730 + Pat_06_A COSM5856148 c.1726G>A p.D576N Substitution - Missense 19:45297803-45297803 + S02378 COSM5697502 c.1928G>A p.G643D Substitution - Missense 19:45298193-45298193 + M14 COSM1681125 c.1100T>A p.L367Q Substitution - Missense 19:45280467-45280467 + 2492720 COSM5722983 c.1884C>T p.T628T Substitution - coding silent 19:45298149-45298149 + SM-4B295 COSM5032440 c.1363C>T p.R455W Substitution - Missense 19:45287533-45287533 + sysucc-1370T COSM3103963 c.1598+4C>T p.? Unknown 19:45294456-45294456 + C086 COSM5534291 c.1507C>T p.P503S Substitution - Missense 19:45294361-45294361 + OSCC-GB_00700111 COSM4890764 c.789G>T p.E263D Substitution - Missense 19:45277925-45277925 + 587316 COSM1214581 c.1253G>A p.R418H Substitution - Missense 19:45280711-45280711 + MCF7 COSM1681122 c.1094T>A p.L365H Substitution - Missense 19:45280461-45280461 + OSCC-GB_01360111 COSM5955563 c.1463C>A p.P488Q Substitution - Missense 19:45287633-45287633 + B90-Tumor COSM1750975 c.1561G>T p.E521* Substitution - Nonsense 19:45294415-45294415 + M14 COSM1681126 c.1100T>A p.L367Q Substitution - Missense 19:45280467-45280467 + CRC-02T COSM5454745 c.753C>T p.S251S Substitution - coding silent 19:45271675-45271675 + STC252 COSM3823406 c.151G>A p.E51K Substitution - Missense 19:45259088-45259088 + PT37 COSM5921470 c.1958C>T p.P653L Substitution - Missense 19:45302409-45302409 + SKCO-1 COSM3103899 c.441C>T p.L147L Substitution - coding silent 19:45264859-45264859 + sysucc-1370T COSM3103962 c.1598+4C>T p.? Unknown 19:45294456-45294456 + TCGA-EE-A2GP-06 COSM3535868 c.77C>T p.S26F Substitution - Missense 19:45259014-45259014 + SNUH_G40_S1 COSM3680967 c.2016T>G p.L672L Substitution - coding silent 19:45302387-45302387 + TCGA-D5-6928-01 COSM1394567 c.891A>G p.K297K Substitution - coding silent 19:45278027-45278027 + T3724 COSM1394580 c.2035delC p.G681fs*>8 Deletion - Frameshift 19:45302406-45302406 + ITNET_0100_T COSM4963683 c.697G>A p.D233N Substitution - Missense 19:45271619-45271619 + HCC001T COSM5808895 c.1922+1G>A p.? Unknown 19:45299856-45299856 + C058 COSM5525227 c.238C>T p.L80F Substitution - Missense 19:45259175-45259175 + HN_62686 COSM124336 c.1888G>A p.D630N Substitution - Missense 19:45298153-45298153 + TCGA-B7-5816-01 COSM4079324 c.1565G>A p.R522H Substitution - Missense 19:45294419-45294419 + HCC174T COSM3707218 c.2168G>A p.G723D Substitution - Missense 19:45302619-45302619 + pfg143T COSM1394580 c.2035delC p.G681fs*>8 Deletion - Frameshift 19:45302406-45302406 + OST204PT COSM1732423 c.519C>A p.H173Q Substitution - Missense 19:45266251-45266251 + PCSI_0102_Pa_P_526 COSM216460 c.1464A>C p.P488P Substitution - coding silent 19:45287634-45287634 + TCGA-D3-A2JF-06 COSM3535882 c.1942C>T p.Q648* Substitution - Nonsense 19:45302393-45302393 + I2L-P19Ta-Tumor-Organoid COSM5365041 c.558C>T p.N186N Substitution - coding silent 19:45271480-45271480 + SNU-175 COSM1394575 c.1696C>T p.R566C Substitution - Missense 19:45297773-45297773 + TCGA-BG-A0VX-01 COSM998158 c.270C>T p.I90I Substitution - coding silent 19:45263130-45263130 + TCGA-AZ-6598-01 COSM1394578 c.1831C>A p.P611T Substitution - Missense 19:45297908-45297908 + MCF7 COSM1681127 c.1102G>C p.G368R Substitution - Missense 19:45280469-45280469 + TCGA-CG-4442-01 COSM4079327 c.1923-2A>G p.? Unknown 19:45302372-45302372 + TCGA-06-0219-01 COSM3404380 c.774G>A p.G258G Substitution - coding silent 19:45271696-45271696 + TCGA-CH-5771-01 COSM1129790 c.92C>T p.P31L Substitution - Missense 19:45259029-45259029 + S01542 COSM5669624 c.1752T>G p.G584G Substitution - coding silent 19:45297829-45297829 + PTC_285 COSM5958720 c.695delA p.Y232fs*62 Deletion - Frameshift 19:45271617-45271617 + CSCC-49-T COSM4472444 c.1784C>T p.P595L Substitution - Missense 19:45297861-45297861 + YULOVY COSM1686292 c.1304C>T p.P435L Substitution - Missense 19:45287474-45287474 + M14 COSM1681123 c.1097T>G p.L366R Substitution - Missense 19:45280464-45280464 + 587316 COSM190843 c.1253G>A p.R418H Substitution - Missense 19:45280711-45280711 + TCGA-DK-A3IN-01 COSM3797244 c.357G>A p.V119V Substitution - coding silent 19:45264685-45264685 + CCK81 COSM4620749 c.1666C>T p.R556W Substitution - Missense 19:45297743-45297743 + TCGA-BS-A0UM-01 COSM998164 c.851A>T p.E284V Substitution - Missense 19:45277987-45277987 + TCGA-CC-A7IK-01 COSM4924756 c.1064A>T p.Q355L Substitution - Missense 19:45280431-45280431 + TCGA-BS-A0UM-01 COSM1153398 c.851A>T p.E284V Substitution - Missense 19:45277987-45277987 + TCGA-D1-A103-01 COSM1590144 c.166G>A p.V56M Substitution - Missense 19:45259103-45259103 + YUDIALE COSM1712498 c.2027G>A p.R676Q Substitution - Missense 19:45302398-45302398 + B90-Tumor COSM1750976 c.1561G>T p.E521* Substitution - Nonsense 19:45294415-45294415 + Hs-578-T COSM1681124 c.1097T>G p.L366R Substitution - Missense 19:45280464-45280464 + BD236T COSM5519680 c.324C>T p.R108R Substitution - coding silent 19:45263336-45263336 + TCGA-09-1665-01 COSM116823 c.1229G>A p.R410Q Substitution - Missense 19:45280687-45280687 + TCGA-BR-8289-01 COSM4079325 c.1673G>A p.R558H Substitution - Missense 19:45297750-45297750 + B88 COSM1750974 c.139G>A p.A47T Substitution - Missense 19:45259076-45259076 + 1517_CLM COSM5755408 c.1319C>T p.T440M Substitution - Missense 19:45287489-45287489 + CHC2039Tbis COSM4788169 c.1682G>T p.R561L Substitution - Missense 19:45297759-45297759 + TCGA-66-2785-01 COSM1148209 c.1894G>C p.E632Q Substitution - Missense 19:45299827-45299827 + 8066461 COSM3773067 c.638A>G p.D213G Substitution - Missense 19:45271560-45271560 + HCC174 COSM3707218 c.2168G>A p.G723D Substitution - Missense 19:45302619-45302619 + PD4115a COSM3664844 c.1035G>A p.R345R Substitution - coding silent 19:45280402-45280402 + T2999 COSM4700738 c.150C>T p.P50P Substitution - coding silent 19:45259087-45259087 + NYU937 COSM4771360 c.370G>T p.V124L Substitution - Missense 19:45264698-45264698 + S01542 COSM5669623 c.1752T>G p.G584G Substitution - coding silent 19:45297829-45297829 + BHY COSM4592625 c.1667G>A p.R556Q Substitution - Missense 19:45297744-45297744 + PD9597a COSM5796795 c.699C>G p.D233E Substitution - Missense 19:45271621-45271621 + MCF7 COSM1681126 c.1100T>A p.L367Q Substitution - Missense 19:45280467-45280467 + UPCI:SCC090 COSM3103902 c.446C>G p.S149W Substitution - Missense 19:45264864-45264864 + TCGA-A5-A0GA-01 COSM998154 c.113T>C p.L38P Substitution - Missense 19:45259050-45259050 + YUPADI COSM1686291 c.512A>T p.Y171F Substitution - Missense 19:45266244-45266244 + PT33 COSM5909731 c.2123C>T p.P708L Substitution - Missense 19:45302574-45302574 + NYU937 COSM4771361 c.370G>T p.V124L Substitution - Missense 19:45264698-45264698 + TCGA-C5-A1BM-01 COSM4826557 c.1930G>A p.A644T Substitution - Missense 19:45298195-45298195 + NPC41F COSM4995939 c.374T>C p.I125T Substitution - Missense 19:45264702-45264702 + LUAD-S01315 COSM344716 c.1613G>T p.R538L Substitution - Missense 19:45297690-45297690 + Pat_70_A COSM5856146 c.1568C>T p.P523L Substitution - Missense 19:45294422-45294422 + TCGA-D5-6540-01 COSM1394579 c.1955delC p.R654fs*9 Deletion - Frameshift 19:45302406-45302406 + TCGA-22-4595-01 COSM1148208 c.1563G>T p.E521D Substitution - Missense 19:45294417-45294417 + TCGA-FS-A4F0-06 COSM3535881 c.1130G>A p.R377Q Substitution - Missense 19:45280588-45280588 + CSCC-30-T COSM4527723 c.1485G>A p.T495T Substitution - coding silent 19:45287655-45287655 + Pat_70_B COSM5856145 c.1568C>T p.P523L Substitution - Missense 19:45294422-45294422 + TCGA-A3-3320-01 COSM1494383 c.1148C>A p.A383D Substitution - Missense 19:45280606-45280606 + M14 COSM1681121 c.1094T>A p.L365H Substitution - Missense 19:45280461-45280461 + T3099 COSM4700742 c.818A>G p.Y273C Substitution - Missense 19:45277954-45277954 + C608 COSM4442825 c.572C>T p.A191V Substitution - Missense 19:45271494-45271494 + TCGA-A5-A0GA-01 COSM1153395 c.113T>C p.L38P Substitution - Missense 19:45259050-45259050 + TCGA-E9-A5FL-01 COSM3823407 c.1953G>T p.K651N Substitution - Missense 19:45298218-45298218 + TCGA-CA-6716-01 COSM1394574 c.1352G>A p.R451Q Substitution - Missense 19:45287522-45287522 + TCGA-GC-A3BM-01 COSM3797251 c.1011G>A p.V337V Substitution - coding silent 19:45280378-45280378 + TCGA-BR-7851-01 COSM4079317 c.314G>A p.R105Q Substitution - Missense 19:45263326-45263326 + T36 COSM4700743 c.1551C>T p.R517R Substitution - coding silent 19:45294405-45294405 + TCGA-EE-A2GO-06 COSM3535877 c.437A>T p.Y146F Substitution - Missense 19:45264855-45264855 + DN1401C COSM302620 c.697G>C p.D233H Substitution - Missense 19:45271619-45271619 + T2197 COSM4700747 c.1954_1955insC p.R654fs*18 Insertion - Frameshift 19:45302405-45302406 + TCGA-D3-A2JF-06 COSM3535883 c.2022C>T p.I674I Substitution - coding silent 19:45302393-45302393 + SKCO-1 COSM3103900 c.441C>T p.L147L Substitution - coding silent 19:45264859-45264859 + LUAD-S01331 COSM396474 c.1746G>T p.G582G Substitution - coding silent 19:45297823-45297823 + TCGA-FD-A3SL-01 COSM3797246 c.387G>A p.K129K Substitution - coding silent 19:45264715-45264715 + 1517_PT COSM5755407 c.1319C>T p.T440M Substitution - Missense 19:45287489-45287489 + TCGA-AZ-4615-01 COSM3756951 c.1683T>C p.R561R Substitution - coding silent 19:45297760-45297760 + T3498 COSM4700745 c.1628delC p.S545fs*75 Deletion - Frameshift 19:45297705-45297705 + TCGA-GF-A3OT-06 COSM3535871 c.247C>T p.R83W Substitution - Missense 19:45259184-45259184 + TCGA-EE-A3AF-06 COSM3535873 c.321C>T p.V107V Substitution - coding silent 19:45263333-45263333 + CRC-02T COSM5454747 c.1067A>C p.K356T Substitution - Missense 19:45280434-45280434 + PD4115a COSM3664844 c.1035G>A p.R345R Substitution - coding silent 19:45280402-45280402 + sysucc-311T COSM5464624 c.1400G>A p.R467Q Substitution - Missense 19:45287570-45287570 + C086 COSM5534293 c.1508C>T p.P503L Substitution - Missense 19:45294362-45294362 + CHC2039Tbis COSM4788170 c.1682G>T p.R561L Substitution - Missense 19:45297759-45297759 + TCGA-G4-6588-01 COSM1394565 c.654delC p.P220fs*74 Deletion - Frameshift 19:45271576-45271576 + 585260 COSM321594 c.1738G>T p.G580W Substitution - Missense 19:45297815-45297815 + SM-4B295 COSM5032439 c.1363C>T p.R455W Substitution - Missense 19:45287533-45287533 + T3182 COSM1394563 c.500C>T p.S167L Substitution - Missense 19:45266232-45266232 + TCGA-F5-6814-01 COSM1394564 c.500C>T p.S167L Substitution - Missense 19:45266232-45266232 + ESCC_3 COSM5622576 c.1207A>C p.T403P Substitution - Missense 19:45280665-45280665 + Pat_45_A COSM5856143 c.1462C>T p.P488S Substitution - Missense 19:45287632-45287632 + sysucc-867T COSM4079323 c.1565G>A p.R522H Substitution - Missense 19:45294419-45294419 + PTC-7C COSM4132121 c.833A>C p.Y278S Substitution - Missense 19:45277969-45277969 + TCGA-AA-A010-01 COSM282677 c.303G>A p.Q101Q Substitution - coding silent 19:45263163-45263163 + PD4115a COSM3664843 c.1035G>A p.R345R Substitution - coding silent 19:45280402-45280402 + TCGA-DK-A3IN-01 COSM3797245 c.357G>A p.V119V Substitution - coding silent 19:45264685-45264685 + CSCC-27-T COSM4471930 c.174C>T p.N58N Substitution - coding silent 19:45259111-45259111 + YUDEXA COSM1712496 c.653G>A p.S218N Substitution - Missense 19:45271575-45271575 + MCF7 COSM1681123 c.1097T>G p.L366R Substitution - Missense 19:45280464-45280464 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.34180;Hs.34314 19q13.3 606495

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P488P c.1464A>C 19 45790892 PAAD A T Missense p.E284V c.851A>T 19 45781245 UCEC A T Missense p.I65F c.193A>T 19 45762388 LUAD A T Missense p.Y146F c.437A>T 19 45768113 CM A T Synonymous p.G396G c.1188A>T 19 45783904 LUAD C - Frameshift p.P430Lfs*18 c.1289delC 19 45790714 CM C - Frameshift p.R36Afs*27 c.106delC 19 45762300 HNSC C G Synonymous p.P706P c.2118C>G 19 45805827 NB C T Missense p.A184V c.551C>T 19 45774731 STAD C T Missense p.P235L c.704C>T 19 45774884 COREAD C T Missense p.P276S c.826C>T 19 45781220 CM C T Missense p.P31L c.92C>T 19 45762287 PRAD C T Missense p.P380L c.1139C>T 19 45783855 HNSC C T Missense p.R388W c.1162C>T 19 45783878 STAD C T Missense p.S149L c.446C>T 19 45768122 CM C T Missense p.S26F c.77C>T 19 45762272 CM C T Missense p.T93I c.278C>T 19 45766396 BRCA C T Nonsense p.Q648* c.1942C>T 19 45805651 CM C T Nonsense p.R159* c.475C>T 19 45768151 CM C T Synonymous p.I90I c.270C>T 19 45766388 UCEC C T Synonymous p.L249L c.747C>T 19 45774927 HNSC C T Synonymous p.L695L c.2083C>T 19 45805792 BLCA C T Synonymous p.S458S c.1374C>T 19 45790802 HNSC C T Synonymous p.T248T c.744C>T 19 45774924 CM C T Synonymous p.V107V c.321C>T 19 45766591 CM G A IntronicSNV . c.1877+199G>A 19 45801411 HNSC G A Missense p.D181N c.541G>A 19 45769531 LUAD G A Missense p.G234R c.700G>A 19 45774880 NB G A Missense p.G82S c.244G>A 19 45762439 HNSC G A Missense p.R265Q c.794G>A 19 45781188 GBM G A Missense p.R410Q c.1229G>A 19 45783945 OV G A Missense p.R418H c.1253G>A 19 45783969 COREAD G A Missense p.R508H c.1523G>A 19 45797635 STAD G A Missense p.R522H c.1565G>A 19 45797677 STAD G A Synonymous p.G258G c.774G>A 19 45774954 GBM G A Synonymous p.K356K c.1068G>A 19 45783693 HNSC G A Synonymous p.L182L c.546G>A 19 45769536 HNSC G A Synonymous p.S149S c.447G>A 19 45768123 HNSC G A Synonymous p.V119V c.357G>A 19 45767943 BLCA G C Missense p.D213H c.637G>C 19 45774817 BLCA G C Missense p.R270T c.809G>C 19 45781203 LUSC G T Missense p.E350D c.1050G>T 19 45783675 OV G T Missense p.E521D c.1563G>T 19 45797675 LUSC G T Missense p.G234W c.700G>T 19 45774880 MB G T Missense p.G463W c.1387G>T 19 45790815 UCEC G T Missense p.G580W c.1738G>T 19 45801073 SCLC G T Missense p.V244F c.730G>T 19 45774910 UCEC G T Synonymous p.S667S c.2001G>T 19 45805710 LUAD T C Missense p.L38P c.113T>C 19 45762308 UCEC T C Missense p.S545P c.1633T>C 19 45800968 RCCC