Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 122647792 122647792 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr11:122647792C>T c.276C>T c.(274-276)ctC>ctT p.L92L BLCA 11 122659876 122659876 + Silent SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 g.chr11:122659876C>T c.840C>T c.(838-840)ttC>ttT p.F280F BLCA 11 122659895 122659895 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr11:122659895G>A c.859G>A c.(859-861)Gag>Aag p.E287K BLCA 11 122669667 122669667 + Missense_Mutation SNP A A T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr11:122669667A>T c.1375A>T c.(1375-1377)Agc>Tgc p.S459C BLCA 11 122669698 122669698 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr11:122669698C>T c.1406C>T c.(1405-1407)tCc>tTc p.S469F BLCA 11 122672000 122672000 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr11:122672000G>C c.1555G>C c.(1555-1557)Gag>Cag p.E519Q BLCA 11 122680564 122680564 + Missense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr11:122680564C>G c.1920C>G c.(1918-1920)ttC>ttG p.F640L BRCA 11 122653835 122653835 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr11:122653835A>C c.676A>C c.(676-678)Acc>Ccc p.T226P BRCA 11 122659956 122659956 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr11:122659956G>A c.920G>A c.(919-921)gGa>gAa p.G307E BRCA 11 122672027 122672027 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:122672027G>A c.1582G>A c.(1582-1584)Gat>Aat p.D528N CESC 11 122665486 122665486 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr11:122665486G>A c.1057G>A c.(1057-1059)Gag>Aag p.E353K CESC 11 122678796 122678796 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr11:122678796C>T c.1724C>T c.(1723-1725)gCc>gTc p.A575V CESC 11 122680574 122680574 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr11:122680574G>C c.1930G>C c.(1930-1932)Gag>Cag p.E644Q COAD 11 122526916 122526916 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr11:122526916C>T c.159C>T c.(157-159)cgC>cgT p.R53R COAD 11 122650279 122650279 + Silent SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr11:122650279G>A c.477G>A c.(475-477)tcG>tcA p.S159S COAD 11 122650298 122650298 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr11:122650298C>T c.496C>T c.(496-498)Ctc>Ttc p.L166F COAD 11 122659955 122659955 + Missense_Mutation SNP G G C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr11:122659955G>C c.919G>C c.(919-921)Gga>Cga p.G307R COAD 11 122659959 122659959 + Missense_Mutation SNP T T A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr11:122659959T>A c.923T>A c.(922-924)cTc>cAc p.L308H COAD 11 122666982 122666982 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:122666982A>G c.1232A>G c.(1231-1233)aAa>aGa p.K411R COAD 11 122669701 122669701 + Missense_Mutation SNP C C T TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr11:122669701C>T c.1409C>T c.(1408-1410)cCg>cTg p.P470L COAD 11 122669709 122669709 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:122669709C>T c.1417C>T c.(1417-1419)Cgc>Tgc p.R473C COAD 11 122669715 122669715 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr11:122669715G>A c.1423G>A c.(1423-1425)Gtt>Att p.V475I COAD 11 122671934 122671934 + Missense_Mutation SNP C C A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr11:122671934C>A c.1489C>A c.(1489-1491)Ccc>Acc p.P497T COAD 11 122678800 122678800 + Silent SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr11:122678800C>T c.1728C>T c.(1726-1728)caC>caT p.H576H COAD 11 122678843 122678843 + Missense_Mutation SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:122678843T>C c.1771T>C c.(1771-1773)Tca>Cca p.S591P COAD 11 122678867 122678867 + Missense_Mutation SNP G G A TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr11:122678867G>A c.1795G>A c.(1795-1797)Gta>Ata p.V599I COADREAD 11 122526916 122526916 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr11:122526916C>T c.159C>T c.(157-159)cgC>cgT p.R53R COADREAD 11 122650279 122650279 + Silent SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr11:122650279G>A c.477G>A c.(475-477)tcG>tcA p.S159S COADREAD 11 122650298 122650298 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr11:122650298C>T c.496C>T c.(496-498)Ctc>Ttc p.L166F COADREAD 11 122659955 122659955 + Missense_Mutation SNP G G C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr11:122659955G>C c.919G>C c.(919-921)Gga>Cga p.G307R COADREAD 11 122659959 122659959 + Missense_Mutation SNP T T A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr11:122659959T>A c.923T>A c.(922-924)cTc>cAc p.L308H COADREAD 11 122666982 122666982 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:122666982A>G c.1232A>G c.(1231-1233)aAa>aGa p.K411R COADREAD 11 122669701 122669701 + Missense_Mutation SNP C C T TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr11:122669701C>T c.1409C>T c.(1408-1410)cCg>cTg p.P470L COADREAD 11 122669709 122669709 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:122669709C>T c.1417C>T c.(1417-1419)Cgc>Tgc p.R473C COADREAD 11 122669715 122669715 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr11:122669715G>A c.1423G>A c.(1423-1425)Gtt>Att p.V475I COADREAD 11 122669731 122669731 + Missense_Mutation SNP A A G TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr11:122669731A>G c.1439A>G c.(1438-1440)aAt>aGt p.N480S COADREAD 11 122671934 122671934 + Missense_Mutation SNP C C A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr11:122671934C>A c.1489C>A c.(1489-1491)Ccc>Acc p.P497T COADREAD 11 122671936 122671936 + Silent SNP C C A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr11:122671936C>A c.1491C>A c.(1489-1491)ccC>ccA p.P497P COADREAD 11 122672021 122672021 + Missense_Mutation SNP A A T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr11:122672021A>T c.1576A>T c.(1576-1578)Agt>Tgt p.S526C COADREAD 11 122678800 122678800 + Silent SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr11:122678800C>T c.1728C>T c.(1726-1728)caC>caT p.H576H COADREAD 11 122678801 122678801 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr11:122678801G>A c.1729G>A c.(1729-1731)Gca>Aca p.A577T COADREAD 11 122678843 122678843 + Missense_Mutation SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:122678843T>C c.1771T>C c.(1771-1773)Tca>Cca p.S591P COADREAD 11 122678867 122678867 + Missense_Mutation SNP G G A TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr11:122678867G>A c.1795G>A c.(1795-1797)Gta>Ata p.V599I DLBC 11 122678778 122678778 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:122678778A>G c.1706A>G c.(1705-1707)aAt>aGt p.N569S ESCA 11 122650316 122650316 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr11:122650316T>G c.514T>G c.(514-516)Ttc>Gtc p.F172V ESCA 11 122667713 122667713 + Silent SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr11:122667713G>T c.1329G>T c.(1327-1329)gtG>gtT p.V443V ESCA 11 122678802 122678802 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr11:122678802C>T c.1730C>T c.(1729-1731)gCa>gTa p.A577V GBM 11 122653798 122653798 + Silent SNP G G A TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr11:122653798G>A c.639G>A c.(637-639)gtG>gtA p.V213V GBMLGG 11 122653798 122653798 + Silent SNP G G A TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr11:122653798G>A c.639G>A c.(637-639)gtG>gtA p.V213V HNSC 11 122666900 122666900 + Nonsense_Mutation SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr11:122666900C>T c.1150C>T c.(1150-1152)Cga>Tga p.R384* KIPAN 11 122665475 122665475 + Missense_Mutation SNP G G A TCGA-BP-4170-01A-02D-1366-10 TCGA-BP-4170-11A-01D-1366-10 g.chr11:122665475G>A c.1046G>A c.(1045-1047)aGg>aAg p.R349K KIRC 11 122665475 122665475 + Missense_Mutation SNP G G A TCGA-BP-4170-01A-02D-1366-10 TCGA-BP-4170-11A-01D-1366-10 g.chr11:122665475G>A c.1046G>A c.(1045-1047)aGg>aAg p.R349K LIHC 11 122647740 122647740 + Missense_Mutation SNP C C T TCGA-CC-A5UC-01A-11D-A28X-10 TCGA-CC-A5UC-10A-01D-A28X-10 g.chr11:122647740C>T c.224C>T c.(223-225)tCc>tTc p.S75F LIHC 11 122671897 122671897 + Splice_Site SNP T T G TCGA-ZS-A9CG-01A-11D-A36X-10 TCGA-ZS-A9CG-10A-01D-A370-10 g.chr11:122671897T>G c.1452T>G c.(1450-1452)ggT>ggG p.G484G LUAD 11 122647758 122647759 + Frame_Shift_Ins INS - - C TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr11:122647758_122647759insC c.242_243insC c.(241-246)ttcctgfs p.L82fs LUAD 11 122647771 122647771 + Silent SNP C C T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr11:122647771C>T c.255C>T c.(253-255)ccC>ccT p.P85P LUAD 11 122647789 122647789 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr11:122647789C>T c.273C>T c.(271-273)gtC>gtT p.V91V LUAD 11 122650348 122650348 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr11:122650348G>A c.546G>A c.(544-546)gcG>gcA p.A182A LUAD 11 122650349 122650349 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr11:122650349G>A c.547G>A c.(547-549)Gag>Aag p.E183K LUAD 11 122650363 122650363 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr11:122650363G>A c.561G>A c.(559-561)aaG>aaA p.K187K LUAD 11 122650373 122650373 + Missense_Mutation SNP G G T TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr11:122650373G>T c.571G>T c.(571-573)Gac>Tac p.D191Y LUAD 11 122653759 122653759 + Splice_Site SNP A A T TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr11:122653759A>T c.e5-1 LUAD 11 122666894 122666894 + Missense_Mutation SNP C C A TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chr11:122666894C>A c.1144C>A c.(1144-1146)Cag>Aag p.Q382K LUAD 11 122667726 122667726 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr11:122667726C>G c.1342C>G c.(1342-1344)Caa>Gaa p.Q448E LUAD 11 122669678 122669678 + Silent SNP T T A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr11:122669678T>A c.1386T>A c.(1384-1386)atT>atA p.I462I LUAD 11 122680461 122680461 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr11:122680461C>T c.1817C>T c.(1816-1818)cCa>cTa p.P606L LUSC 11 122646964 122646964 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr11:122646964C>A c.199C>A c.(199-201)Cag>Aag p.Q67K LUSC 11 122650303 122650303 + Nonsense_Mutation SNP T T A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr11:122650303T>A c.501T>A c.(499-501)taT>taA p.Y167* LUSC 11 122653771 122653771 + Silent SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr11:122653771G>T c.612G>T c.(610-612)gtG>gtT p.V204V LUSC 11 122653834 122653834 + Silent SNP C C A TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr11:122653834C>A c.675C>A c.(673-675)ccC>ccA p.P225P LUSC 11 122669743 122669743 + Splice_Site SNP G G A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr11:122669743G>A c.e10+1 LUSC 11 122678809 122678809 + Silent SNP C C A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr11:122678809C>A c.1737C>A c.(1735-1737)tcC>tcA p.S579S OV 11 122671983 122671983 + Missense_Mutation SNP C C A TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 g.chr11:122671983C>A c.1538C>A c.(1537-1539)gCa>gAa p.A513E PAAD 11 122659916 122659916 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr11:122659916G>A c.880G>A c.(880-882)Ggt>Agt p.G294S PAAD 11 122667627 122667627 + Missense_Mutation SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr11:122667627A>G c.1243A>G c.(1243-1245)Ata>Gta p.I415V PAAD 11 122667631 122667631 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr11:122667631G>A c.1247G>A c.(1246-1248)cGc>cAc p.R416H PAAD 11 122669710 122669710 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:122669710G>A c.1418G>A c.(1417-1419)cGc>cAc p.R473H PAAD 11 122671895 122671895 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:122671895G>T c.e11-1 PAAD 11 122677157 122677157 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:122677157C>A c.1635C>A c.(1633-1635)tcC>tcA p.S545S PRAD 11 122650305 122650305 + Missense_Mutation SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 g.chr11:122650305C>T c.503C>T c.(502-504)aCg>aTg p.T168M PRAD 11 122659912 122659912 + Silent SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 g.chr11:122659912C>T c.876C>T c.(874-876)agC>agT p.S292S PRAD 11 122680579 122680579 + Silent SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:122680579C>A c.1935C>A c.(1933-1935)acC>acA p.T645T READ 11 122669731 122669731 + Missense_Mutation SNP A A G TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr11:122669731A>G c.1439A>G c.(1438-1440)aAt>aGt p.N480S READ 11 122671936 122671936 + Silent SNP C C A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr11:122671936C>A c.1491C>A c.(1489-1491)ccC>ccA p.P497P READ 11 122672021 122672021 + Missense_Mutation SNP A A T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr11:122672021A>T c.1576A>T c.(1576-1578)Agt>Tgt p.S526C READ 11 122678801 122678801 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr11:122678801G>A c.1729G>A c.(1729-1731)Gca>Aca p.A577T SKCM 11 122646962 122646962 + Missense_Mutation SNP T T C TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr11:122646962T>C c.197T>C c.(196-198)gTt>gCt p.V66A SKCM 11 122647762 122647762 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr11:122647762G>A c.246G>A c.(244-246)ctG>ctA p.L82L SKCM 11 122647763 122647763 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr11:122647763G>A c.247G>A c.(247-249)Gat>Aat p.D83N SKCM 11 122647802 122647802 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr11:122647802C>T c.286C>T c.(286-288)Ccc>Tcc p.P96S SKCM 11 122650322 122650322 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:122650322G>T c.520G>T c.(520-522)Ggc>Tgc p.G174C SKCM 11 122665459 122665459 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr11:122665459G>A c.1030G>A c.(1030-1032)Gat>Aat p.D344N SKCM 11 122666886 122666886 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:122666886C>T c.1136C>T c.(1135-1137)cCc>cTc p.P379L SKCM 11 122669681 122669681 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr11:122669681C>T c.1389C>T c.(1387-1389)atC>atT p.I463I SKCM 11 122669709 122669709 + Missense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr11:122669709C>T c.1417C>T c.(1417-1419)Cgc>Tgc p.R473C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 122647792 122647792 single base substitution C T exon_variant BLCA-US 11 122647792 122647792 single base substitution C T synonymous_variant L92L 276C>T BLCA-US 11 122647792 122647792 single base substitution C T upstream_gene_variant BLCA-US 11 122672000 122672000 single base substitution G C downstream_gene_variant BLCA-US 11 122672000 122672000 single base substitution G C missense_variant E519Q 1555G>C BRCA-EU 11 122522496 122522496 single base substitution A G upstream_gene_variant BRCA-EU 11 122524643 122524643 single base substitution A G upstream_gene_variant BRCA-EU 11 122527582 122527582 single base substitution G A intron_variant BRCA-EU 11 122528035 122528035 single base substitution C G intron_variant BRCA-EU 11 122531564 122531565 deletion of <=200bp TG - intron_variant BRCA-EU 11 122531657 122531657 single base substitution C A intron_variant BRCA-EU 11 122532987 122532987 single base substitution A T intron_variant BRCA-EU 11 122533227 122533227 single base substitution C T intron_variant BRCA-EU 11 122533837 122533837 single base substitution G A intron_variant BRCA-EU 11 122534531 122534531 single base substitution G A intron_variant BRCA-EU 11 122535678 122535678 single base substitution G A intron_variant BRCA-EU 11 122536383 122536383 single base substitution A T intron_variant BRCA-EU 11 122536669 122536669 single base substitution T A intron_variant BRCA-EU 11 122536960 122536960 single base substitution G A intron_variant BRCA-EU 11 122537249 122537249 single base substitution C G intron_variant BRCA-EU 11 122537466 122537466 single base substitution T C intron_variant BRCA-EU 11 122537479 122537479 single base substitution C T intron_variant BRCA-EU 11 122538143 122538143 single base substitution A G intron_variant BRCA-EU 11 122541602 122541602 single base substitution C G intron_variant BRCA-EU 11 122541673 122541673 single base substitution G A intron_variant BRCA-EU 11 122543318 122543318 single base substitution G A intron_variant BRCA-EU 11 122543334 122543334 single base substitution T C intron_variant BRCA-EU 11 122544080 122544080 single base substitution G T intron_variant BRCA-EU 11 122544317 122544317 single base substitution A G intron_variant BRCA-EU 11 122544889 122544889 single base substitution C G intron_variant BRCA-EU 11 122545504 122545504 single base substitution G A intron_variant BRCA-EU 11 122546113 122546113 single base substitution G A intron_variant BRCA-EU 11 122546653 122546653 single base substitution A T intron_variant BRCA-EU 11 122551234 122551234 single base substitution C T intron_variant BRCA-EU 11 122552890 122552890 single base substitution C G intron_variant BRCA-EU 11 122553712 122553712 single base substitution G A intron_variant BRCA-EU 11 122554094 122554094 single base substitution G A intron_variant BRCA-EU 11 122554162 122554162 single base substitution A T intron_variant BRCA-EU 11 122554747 122554747 single base substitution C G intron_variant BRCA-EU 11 122554992 122554992 single base substitution T C intron_variant BRCA-EU 11 122555171 122555171 single base substitution C A intron_variant BRCA-EU 11 122555988 122555988 single base substitution A G intron_variant BRCA-EU 11 122556974 122556974 single base substitution C T intron_variant BRCA-EU 11 122557337 122557337 single base substitution C T intron_variant BRCA-EU 11 122558168 122558168 single base substitution C G intron_variant BRCA-EU 11 122558336 122558336 single base substitution C T intron_variant BRCA-EU 11 122559550 122559550 single base substitution C G intron_variant BRCA-EU 11 122563444 122563444 single base substitution C T intron_variant BRCA-EU 11 122564134 122564134 single base substitution G A intron_variant BRCA-EU 11 122564135 122564135 single base substitution A T intron_variant BRCA-EU 11 122564199 122564199 single base substitution C A intron_variant BRCA-EU 11 122564510 122564510 single base substitution C T intron_variant BRCA-EU 11 122564512 122564512 single base substitution G C intron_variant BRCA-EU 11 122571066 122571066 single base substitution G T intron_variant BRCA-EU 11 122572373 122572373 single base substitution G A intron_variant BRCA-EU 11 122572692 122572692 single base substitution G A intron_variant BRCA-EU 11 122572891 122572891 single base substitution G A intron_variant BRCA-EU 11 122575428 122575428 single base substitution G T intron_variant BRCA-EU 11 122575428 122575428 single base substitution G T upstream_gene_variant BRCA-EU 11 122578198 122578198 single base substitution A T intron_variant BRCA-EU 11 122578198 122578198 single base substitution A T upstream_gene_variant BRCA-EU 11 122581032 122581032 single base substitution C T intron_variant BRCA-EU 11 122582249 122582249 single base substitution C T intron_variant BRCA-EU 11 122584225 122584225 single base substitution G A intron_variant BRCA-EU 11 122585338 122585338 single base substitution C A intron_variant BRCA-EU 11 122587722 122587722 single base substitution G C intron_variant BRCA-EU 11 122588530 122588530 single base substitution C T intron_variant BRCA-EU 11 122588674 122588674 single base substitution G C intron_variant BRCA-EU 11 122590204 122590204 single base substitution G C intron_variant BRCA-EU 11 122590488 122590488 single base substitution C A intron_variant BRCA-EU 11 122591118 122591118 single base substitution C G intron_variant BRCA-EU 11 122592964 122592964 single base substitution C T intron_variant BRCA-EU 11 122593010 122593010 single base substitution G T intron_variant BRCA-EU 11 122593703 122593703 single base substitution G A intron_variant BRCA-EU 11 122593704 122593704 single base substitution C T intron_variant BRCA-EU 11 122594272 122594272 single base substitution G A intron_variant BRCA-EU 11 122594301 122594301 single base substitution A G intron_variant BRCA-EU 11 122594563 122594563 single base substitution G C intron_variant BRCA-EU 11 122594576 122594576 single base substitution G A intron_variant BRCA-EU 11 122595040 122595040 single base substitution G A intron_variant BRCA-EU 11 122596094 122596094 single base substitution C T intron_variant BRCA-EU 11 122596487 122596487 single base substitution C T intron_variant BRCA-EU 11 122596851 122596851 single base substitution G A intron_variant BRCA-EU 11 122598068 122598068 single base substitution C G intron_variant BRCA-EU 11 122600367 122600367 single base substitution T G downstream_gene_variant BRCA-EU 11 122600367 122600367 single base substitution T G intron_variant BRCA-EU 11 122600443 122600443 single base substitution G T downstream_gene_variant BRCA-EU 11 122600443 122600443 single base substitution G T intron_variant BRCA-EU 11 122600565 122600565 single base substitution A T downstream_gene_variant BRCA-EU 11 122600565 122600565 single base substitution A T intron_variant BRCA-EU 11 122600793 122600793 single base substitution A G downstream_gene_variant BRCA-EU 11 122600793 122600793 single base substitution A G intron_variant BRCA-EU 11 122601809 122601809 single base substitution G A downstream_gene_variant BRCA-EU 11 122601809 122601809 single base substitution G A intron_variant BRCA-EU 11 122602818 122602818 single base substitution G T downstream_gene_variant BRCA-EU 11 122602818 122602818 single base substitution G T intron_variant BRCA-EU 11 122602847 122602847 single base substitution G C downstream_gene_variant BRCA-EU 11 122602847 122602847 single base substitution G C intron_variant BRCA-EU 11 122605491 122605491 insertion of <=200bp - T intron_variant BRCA-EU 11 122607354 122607354 single base substitution C T intron_variant BRCA-EU 11 122610367 122610367 single base substitution G A intron_variant BRCA-EU 11 122610746 122610746 single base substitution C A intron_variant BRCA-EU 11 122611018 122611018 single base substitution T G intron_variant BRCA-EU 11 122611822 122611822 single base substitution T C intron_variant BRCA-EU 11 122613404 122613404 single base substitution G C intron_variant BRCA-EU 11 122617276 122617276 single base substitution A G intron_variant BRCA-EU 11 122617609 122617609 single base substitution C T intron_variant BRCA-EU 11 122619274 122619274 single base substitution G A intron_variant BRCA-EU 11 122619581 122619581 single base substitution C T intron_variant BRCA-EU 11 122620201 122620201 single base substitution C T intron_variant BRCA-EU 11 122620271 122620271 single base substitution G T intron_variant BRCA-EU 11 122621758 122621758 single base substitution G A intron_variant BRCA-EU 11 122622901 122622901 single base substitution G C intron_variant BRCA-EU 11 122623466 122623466 single base substitution G A intron_variant BRCA-EU 11 122624069 122624069 single base substitution G C intron_variant BRCA-EU 11 122625291 122625291 single base substitution G A intron_variant BRCA-EU 11 122625700 122625724 deletion of <=200bp GCACTTGACACGGACTTAAATGTAA - intron_variant BRCA-EU 11 122627211 122627211 single base substitution G T intron_variant BRCA-EU 11 122627516 122627516 single base substitution C T intron_variant BRCA-EU 11 122627791 122627791 single base substitution A G intron_variant BRCA-EU 11 122628101 122628101 single base substitution G C intron_variant BRCA-EU 11 122629412 122629412 single base substitution C G intron_variant BRCA-EU 11 122630394 122630394 single base substitution G T intron_variant BRCA-EU 11 122630591 122630591 single base substitution G T intron_variant BRCA-EU 11 122630849 122630849 single base substitution A G intron_variant BRCA-EU 11 122632139 122632139 single base substitution G A intron_variant BRCA-EU 11 122633026 122633026 single base substitution G A intron_variant BRCA-EU 11 122633640 122633640 single base substitution G C intron_variant BRCA-EU 11 122633926 122633926 single base substitution C T intron_variant BRCA-EU 11 122634293 122634293 single base substitution T C intron_variant BRCA-EU 11 122635422 122635422 single base substitution G A intron_variant BRCA-EU 11 122637437 122637437 single base substitution C G intron_variant BRCA-EU 11 122639073 122639073 single base substitution T C intron_variant BRCA-EU 11 122639737 122639737 single base substitution G T intron_variant BRCA-EU 11 122643062 122643062 single base substitution T C intron_variant BRCA-EU 11 122643062 122643062 single base substitution T C upstream_gene_variant BRCA-EU 11 122643406 122643406 single base substitution G A intron_variant BRCA-EU 11 122643406 122643406 single base substitution G A upstream_gene_variant BRCA-EU 11 122645537 122645537 single base substitution C T intron_variant BRCA-EU 11 122645537 122645537 single base substitution C T upstream_gene_variant BRCA-EU 11 122645562 122645562 single base substitution C T intron_variant BRCA-EU 11 122645562 122645562 single base substitution C T upstream_gene_variant BRCA-EU 11 122645584 122645584 single base substitution C G intron_variant BRCA-EU 11 122645584 122645584 single base substitution C G upstream_gene_variant BRCA-EU 11 122647881 122647881 single base substitution A G exon_variant BRCA-EU 11 122647881 122647881 single base substitution A G missense_variant N122S 365A>G BRCA-EU 11 122647881 122647881 single base substitution A G upstream_gene_variant BRCA-EU 11 122648004 122648004 single base substitution G C intron_variant BRCA-EU 11 122648004 122648004 single base substitution G C upstream_gene_variant BRCA-EU 11 122648723 122648723 single base substitution C T intron_variant BRCA-EU 11 122648723 122648723 single base substitution C T upstream_gene_variant BRCA-EU 11 122649448 122649448 single base substitution G C intron_variant BRCA-EU 11 122649448 122649448 single base substitution G C upstream_gene_variant BRCA-EU 11 122650211 122650211 single base substitution G T exon_variant BRCA-EU 11 122650211 122650211 single base substitution G T missense_variant D137Y 409G>T BRCA-EU 11 122650211 122650211 single base substitution G T upstream_gene_variant BRCA-EU 11 122653217 122653217 insertion of <=200bp - C downstream_gene_variant BRCA-EU 11 122653217 122653217 insertion of <=200bp - C exon_variant BRCA-EU 11 122653217 122653217 insertion of <=200bp - C intron_variant BRCA-EU 11 122653220 122653220 single base substitution C T downstream_gene_variant BRCA-EU 11 122653220 122653220 single base substitution C T exon_variant BRCA-EU 11 122653220 122653220 single base substitution C T intron_variant BRCA-EU 11 122653224 122653224 single base substitution C A downstream_gene_variant BRCA-EU 11 122653224 122653224 single base substitution C A exon_variant BRCA-EU 11 122653224 122653224 single base substitution C A intron_variant BRCA-EU 11 122655792 122655792 single base substitution A C intron_variant BRCA-EU 11 122657941 122657941 single base substitution G C intron_variant BRCA-EU 11 122659181 122659181 single base substitution G A intron_variant BRCA-EU 11 122659265 122659265 single base substitution G A intron_variant BRCA-EU 11 122659687 122659687 single base substitution C A intron_variant BRCA-EU 11 122659890 122659890 single base substitution C T exon_variant BRCA-EU 11 122659890 122659890 single base substitution C T missense_variant P285L 854C>T BRCA-EU 11 122661627 122661627 single base substitution C G downstream_gene_variant BRCA-EU 11 122661627 122661627 single base substitution C G intron_variant BRCA-EU 11 122661627 122661627 single base substitution C G upstream_gene_variant BRCA-EU 11 122662367 122662367 single base substitution C T downstream_gene_variant BRCA-EU 11 122662367 122662367 single base substitution C T intron_variant BRCA-EU 11 122662367 122662367 single base substitution C T upstream_gene_variant BRCA-EU 11 122662383 122662383 single base substitution G A downstream_gene_variant BRCA-EU 11 122662383 122662383 single base substitution G A intron_variant BRCA-EU 11 122662383 122662383 single base substitution G A upstream_gene_variant BRCA-EU 11 122663852 122663852 single base substitution G A downstream_gene_variant BRCA-EU 11 122663852 122663852 single base substitution G A intron_variant BRCA-EU 11 122663852 122663852 single base substitution G A upstream_gene_variant BRCA-EU 11 122663948 122663948 single base substitution G A downstream_gene_variant BRCA-EU 11 122663948 122663948 single base substitution G A intron_variant BRCA-EU 11 122663948 122663948 single base substitution G A upstream_gene_variant BRCA-EU 11 122665591 122665591 single base substitution T G downstream_gene_variant BRCA-EU 11 122665591 122665591 single base substitution T G intron_variant BRCA-EU 11 122666525 122666525 single base substitution C G downstream_gene_variant BRCA-EU 11 122666525 122666525 single base substitution C G intron_variant BRCA-EU 11 122667016 122667016 single base substitution C T downstream_gene_variant BRCA-EU 11 122667016 122667016 single base substitution C T intron_variant BRCA-EU 11 122667179 122667179 single base substitution T C downstream_gene_variant BRCA-EU 11 122667179 122667179 single base substitution T C intron_variant BRCA-EU 11 122667539 122667539 single base substitution G A downstream_gene_variant BRCA-EU 11 122667539 122667539 single base substitution G A intron_variant BRCA-EU 11 122667608 122667608 single base substitution T G downstream_gene_variant BRCA-EU 11 122667608 122667608 single base substitution T G intron_variant BRCA-EU 11 122668908 122668908 single base substitution G A downstream_gene_variant BRCA-EU 11 122668908 122668908 single base substitution G A intron_variant BRCA-EU 11 122668935 122668935 single base substitution G A downstream_gene_variant BRCA-EU 11 122668935 122668935 single base substitution G A intron_variant BRCA-EU 11 122669741 122669741 single base substitution A G downstream_gene_variant BRCA-EU 11 122669741 122669741 single base substitution A G splice_region_variant BRCA-EU 11 122671063 122671063 single base substitution C T downstream_gene_variant BRCA-EU 11 122671063 122671063 single base substitution C T intron_variant BRCA-EU 11 122672170 122672170 single base substitution G A downstream_gene_variant BRCA-EU 11 122672170 122672170 single base substitution G A intron_variant BRCA-EU 11 122672260 122672260 single base substitution C A downstream_gene_variant BRCA-EU 11 122672260 122672260 single base substitution C A intron_variant BRCA-EU 11 122674353 122674353 single base substitution C A intron_variant BRCA-EU 11 122675947 122675947 single base substitution G A intron_variant BRCA-EU 11 122677037 122677037 single base substitution G C intron_variant BRCA-EU 11 122677135 122677135 single base substitution G A missense_variant S538N 1613G>A BRCA-EU 11 122677432 122677432 single base substitution T C intron_variant BRCA-EU 11 122677459 122677459 single base substitution G A intron_variant BRCA-EU 11 122677736 122677736 single base substitution G T intron_variant BRCA-EU 11 122679072 122679072 single base substitution G C intron_variant BRCA-EU 11 122679494 122679494 single base substitution C A intron_variant BRCA-EU 11 122679733 122679733 single base substitution C T intron_variant BRCA-EU 11 122681263 122681263 single base substitution C A 3_prime_UTR_variant BRCA-EU 11 122682211 122682211 single base substitution T G 3_prime_UTR_variant BRCA-EU 11 122683380 122683380 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 122684275 122684275 single base substitution G T 3_prime_UTR_variant BRCA-EU 11 122687319 122687319 single base substitution G T downstream_gene_variant BRCA-EU 11 122687985 122687985 single base substitution G C downstream_gene_variant BRCA-EU 11 122689787 122689787 single base substitution C T downstream_gene_variant BRCA-FR 11 122529783 122529783 single base substitution T A intron_variant BRCA-FR 11 122552890 122552890 single base substitution C G intron_variant BRCA-FR 11 122554094 122554094 single base substitution G A intron_variant BRCA-FR 11 122559550 122559550 single base substitution C G intron_variant BRCA-FR 11 122583032 122583032 single base substitution G C intron_variant BRCA-FR 11 122585338 122585338 single base substitution C A intron_variant BRCA-FR 11 122590488 122590488 single base substitution C A intron_variant BRCA-FR 11 122596487 122596487 single base substitution C T intron_variant BRCA-FR 11 122611018 122611018 single base substitution T G intron_variant BRCA-FR 11 122612818 122612818 single base substitution C G intron_variant BRCA-FR 11 122619274 122619274 single base substitution G A intron_variant BRCA-FR 11 122620271 122620271 single base substitution G T intron_variant BRCA-FR 11 122621758 122621758 single base substitution G A intron_variant BRCA-FR 11 122630326 122630326 single base substitution G A intron_variant BRCA-FR 11 122632139 122632139 single base substitution G A intron_variant BRCA-FR 11 122639737 122639737 single base substitution G T intron_variant BRCA-FR 11 122641358 122641358 single base substitution C A intron_variant BRCA-FR 11 122641358 122641358 single base substitution C A upstream_gene_variant BRCA-FR 11 122643875 122643875 single base substitution C T intron_variant BRCA-FR 11 122643875 122643875 single base substitution C T upstream_gene_variant BRCA-FR 11 122649297 122649297 single base substitution G C intron_variant BRCA-FR 11 122649297 122649297 single base substitution G C upstream_gene_variant BRCA-FR 11 122650211 122650211 single base substitution G T exon_variant BRCA-FR 11 122650211 122650211 single base substitution G T missense_variant D137Y 409G>T BRCA-FR 11 122650211 122650211 single base substitution G T upstream_gene_variant BRCA-FR 11 122657941 122657941 single base substitution G C intron_variant BRCA-FR 11 122661627 122661627 single base substitution C G downstream_gene_variant BRCA-FR 11 122661627 122661627 single base substitution C G intron_variant BRCA-FR 11 122661627 122661627 single base substitution C G upstream_gene_variant BRCA-FR 11 122662383 122662383 single base substitution G A downstream_gene_variant BRCA-FR 11 122662383 122662383 single base substitution G A intron_variant BRCA-FR 11 122662383 122662383 single base substitution G A upstream_gene_variant BRCA-FR 11 122672260 122672260 single base substitution C A downstream_gene_variant BRCA-FR 11 122672260 122672260 single base substitution C A intron_variant BRCA-FR 11 122677736 122677736 single base substitution G T intron_variant BRCA-FR 11 122683380 122683380 single base substitution G C 3_prime_UTR_variant BRCA-KR 11 122666901 122666901 single base substitution G A downstream_gene_variant BRCA-KR 11 122666901 122666901 single base substitution G A exon_variant BRCA-KR 11 122666901 122666901 single base substitution G A missense_variant R384Q 1151G>A BRCA-UK 11 122546113 122546113 single base substitution G A intron_variant BRCA-UK 11 122550716 122550716 single base substitution T A intron_variant BRCA-UK 11 122581032 122581032 single base substitution C T intron_variant BRCA-UK 11 122602818 122602818 single base substitution G T downstream_gene_variant BRCA-UK 11 122602818 122602818 single base substitution G T intron_variant BRCA-UK 11 122625291 122625291 single base substitution G A intron_variant BRCA-UK 11 122633640 122633640 single base substitution G C intron_variant BRCA-UK 11 122645562 122645562 single base substitution C T intron_variant BRCA-UK 11 122645562 122645562 single base substitution C T upstream_gene_variant BRCA-UK 11 122647807 122647807 single base substitution C T exon_variant BRCA-UK 11 122647807 122647807 single base substitution C T synonymous_variant T97T 291C>T BRCA-UK 11 122647807 122647807 single base substitution C T upstream_gene_variant BRCA-UK 11 122676434 122676434 single base substitution G C intron_variant BRCA-US 11 122653835 122653835 single base substitution A C downstream_gene_variant BRCA-US 11 122653835 122653835 single base substitution A C exon_variant BRCA-US 11 122653835 122653835 single base substitution A C missense_variant T226P 676A>C BRCA-US 11 122659956 122659956 single base substitution G A exon_variant BRCA-US 11 122659956 122659956 single base substitution G A missense_variant G307E 920G>A BRCA-US 11 122672027 122672027 single base substitution G A downstream_gene_variant BRCA-US 11 122672027 122672027 single base substitution G A missense_variant D528N 1582G>A BTCA-JP 11 122647748 122647748 single base substitution G A exon_variant BTCA-JP 11 122647748 122647748 single base substitution G A missense_variant G78S 232G>A BTCA-JP 11 122647748 122647748 single base substitution G A upstream_gene_variant BTCA-JP 11 122665437 122665437 single base substitution A G exon_variant BTCA-JP 11 122665437 122665437 single base substitution A G synonymous_variant S336S 1008A>G BTCA-JP 11 122665437 122665437 single base substitution A G upstream_gene_variant CESC-US 11 122665486 122665486 single base substitution G A exon_variant CESC-US 11 122665486 122665486 single base substitution G A missense_variant E353K 1057G>A CESC-US 11 122678796 122678796 single base substitution C T missense_variant A575V 1724C>T CESC-US 11 122680574 122680574 single base substitution G C missense_variant E644Q 1930G>C CLLE-ES 11 122532883 122532883 single base substitution G A intron_variant CLLE-ES 11 122537973 122537973 single base substitution T G intron_variant CLLE-ES 11 122544766 122544766 single base substitution G A intron_variant CLLE-ES 11 122573782 122573782 single base substitution G A intron_variant CLLE-ES 11 122600448 122600448 single base substitution G A downstream_gene_variant CLLE-ES 11 122600448 122600448 single base substitution G A intron_variant CLLE-ES 11 122609824 122609824 single base substitution G A intron_variant CLLE-ES 11 122626158 122626158 single base substitution C T intron_variant CLLE-ES 11 122648339 122648339 single base substitution T C intron_variant CLLE-ES 11 122648339 122648339 single base substitution T C upstream_gene_variant CLLE-ES 11 122669776 122669776 single base substitution C T downstream_gene_variant CLLE-ES 11 122669776 122669776 single base substitution C T intron_variant CLLE-ES 11 122688868 122688868 single base substitution A T downstream_gene_variant COAD-US 11 122526916 122526916 single base substitution C T splice_region_variant COAD-US 11 122646967 122646967 single base substitution G A exon_variant COAD-US 11 122646967 122646967 single base substitution G A missense_variant A68T 202G>A COAD-US 11 122646967 122646967 single base substitution G A upstream_gene_variant COAD-US 11 122650298 122650298 single base substitution C T exon_variant COAD-US 11 122650298 122650298 single base substitution C T missense_variant L166F 496C>T COAD-US 11 122650298 122650298 single base substitution C T upstream_gene_variant COAD-US 11 122659918 122659918 single base substitution T G exon_variant COAD-US 11 122659918 122659918 single base substitution T G synonymous_variant G294G 882T>G COAD-US 11 122665437 122665437 single base substitution A G exon_variant COAD-US 11 122665437 122665437 single base substitution A G synonymous_variant S336S 1008A>G COAD-US 11 122665437 122665437 single base substitution A G upstream_gene_variant COAD-US 11 122667737 122667737 single base substitution A G downstream_gene_variant COAD-US 11 122667737 122667737 single base substitution A G exon_variant COAD-US 11 122667737 122667737 single base substitution A G synonymous_variant L451L 1353A>G COAD-US 11 122669701 122669701 single base substitution C T downstream_gene_variant COAD-US 11 122669701 122669701 single base substitution C T missense_variant P470L 1409C>T COAD-US 11 122669715 122669715 single base substitution G A downstream_gene_variant COAD-US 11 122669715 122669715 single base substitution G A missense_variant V475I 1423G>A COAD-US 11 122678800 122678800 single base substitution C T synonymous_variant H576H 1728C>T COAD-US 11 122678867 122678867 single base substitution G A missense_variant V599I 1795G>A COCA-CN 11 122540332 122540332 single base substitution C G intron_variant COCA-CN 11 122554319 122554319 single base substitution A T intron_variant COCA-CN 11 122554322 122554322 single base substitution A T intron_variant COCA-CN 11 122565110 122565110 single base substitution G T intron_variant COCA-CN 11 122581440 122581440 single base substitution G A intron_variant COCA-CN 11 122596050 122596050 single base substitution A G intron_variant COCA-CN 11 122615608 122615608 single base substitution C T intron_variant COCA-CN 11 122615615 122615615 single base substitution G A intron_variant COCA-CN 11 122627698 122627698 single base substitution G T intron_variant COCA-CN 11 122639218 122639218 single base substitution A G intron_variant COCA-CN 11 122639220 122639220 single base substitution A G intron_variant COCA-CN 11 122653224 122653224 single base substitution C A downstream_gene_variant COCA-CN 11 122653224 122653224 single base substitution C A exon_variant COCA-CN 11 122653224 122653224 single base substitution C A intron_variant COCA-CN 11 122666965 122666965 single base substitution C A downstream_gene_variant COCA-CN 11 122666965 122666965 single base substitution C A exon_variant COCA-CN 11 122666965 122666965 single base substitution C A synonymous_variant S405S 1215C>A COCA-CN 11 122669475 122669475 single base substitution G A downstream_gene_variant COCA-CN 11 122669475 122669475 single base substitution G A intron_variant COCA-CN 11 122669884 122669884 single base substitution C T downstream_gene_variant COCA-CN 11 122669884 122669884 single base substitution C T intron_variant COCA-CN 11 122671739 122671739 single base substitution T G downstream_gene_variant COCA-CN 11 122671739 122671739 single base substitution T G intron_variant COCA-CN 11 122677047 122677047 single base substitution T C intron_variant COCA-CN 11 122680590 122680590 single base substitution A G missense_variant E649G 1946A>G COCA-CN 11 122684396 122684396 single base substitution G A 3_prime_UTR_variant EOPC-DE 11 122533040 122533040 single base substitution A T intron_variant EOPC-DE 11 122551454 122551454 single base substitution A G intron_variant EOPC-DE 11 122554151 122554151 single base substitution C T intron_variant EOPC-DE 11 122587475 122587475 single base substitution G T intron_variant EOPC-DE 11 122589325 122589325 single base substitution G T intron_variant EOPC-DE 11 122611388 122611388 single base substitution C T intron_variant EOPC-DE 11 122643372 122643372 single base substitution A C intron_variant EOPC-DE 11 122643372 122643372 single base substitution A C upstream_gene_variant EOPC-DE 11 122649479 122649479 single base substitution A T intron_variant EOPC-DE 11 122649479 122649479 single base substitution A T upstream_gene_variant EOPC-DE 11 122651888 122651888 single base substitution C A downstream_gene_variant EOPC-DE 11 122651888 122651888 single base substitution C A intron_variant EOPC-DE 11 122651888 122651888 single base substitution C A upstream_gene_variant EOPC-DE 11 122655226 122655226 single base substitution G A downstream_gene_variant EOPC-DE 11 122655226 122655226 single base substitution G A intron_variant ESAD-UK 11 122522892 122522892 single base substitution G A upstream_gene_variant ESAD-UK 11 122522909 122522909 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 122523480 122523480 single base substitution C G upstream_gene_variant ESAD-UK 11 122523941 122523941 single base substitution A C upstream_gene_variant ESAD-UK 11 122525253 122525253 single base substitution A C upstream_gene_variant ESAD-UK 11 122528684 122528684 single base substitution G A intron_variant ESAD-UK 11 122530176 122530176 single base substitution C T intron_variant ESAD-UK 11 122530988 122530989 deletion of <=200bp GT - intron_variant ESAD-UK 11 122532108 122532108 single base substitution C T intron_variant ESAD-UK 11 122533064 122533064 single base substitution G A intron_variant ESAD-UK 11 122534013 122534013 single base substitution A C intron_variant ESAD-UK 11 122536129 122536129 single base substitution G A intron_variant ESAD-UK 11 122536515 122536515 single base substitution A G intron_variant ESAD-UK 11 122537080 122537080 single base substitution C T intron_variant ESAD-UK 11 122537149 122537149 single base substitution C T intron_variant ESAD-UK 11 122538863 122538863 single base substitution T C intron_variant ESAD-UK 11 122539496 122539496 single base substitution A C intron_variant ESAD-UK 11 122539768 122539768 single base substitution G A intron_variant ESAD-UK 11 122540465 122540465 single base substitution C A intron_variant ESAD-UK 11 122541872 122541872 single base substitution C T intron_variant ESAD-UK 11 122542294 122542294 single base substitution C T intron_variant ESAD-UK 11 122543445 122543445 single base substitution T C intron_variant ESAD-UK 11 122543764 122543764 single base substitution G T intron_variant ESAD-UK 11 122544011 122544011 single base substitution A C intron_variant ESAD-UK 11 122544024 122544024 single base substitution A G intron_variant ESAD-UK 11 122544558 122544558 single base substitution A C intron_variant ESAD-UK 11 122545903 122545903 single base substitution A C intron_variant ESAD-UK 11 122546271 122546271 single base substitution G A intron_variant ESAD-UK 11 122547031 122547031 single base substitution T G intron_variant ESAD-UK 11 122547786 122547786 single base substitution G A intron_variant ESAD-UK 11 122547912 122547912 single base substitution G T intron_variant ESAD-UK 11 122548034 122548034 single base substitution G T intron_variant ESAD-UK 11 122548132 122548132 single base substitution G T intron_variant ESAD-UK 11 122549041 122549041 single base substitution G A intron_variant ESAD-UK 11 122549646 122549646 single base substitution A C intron_variant ESAD-UK 11 122549940 122549940 single base substitution G A intron_variant ESAD-UK 11 122550481 122550481 single base substitution T A intron_variant ESAD-UK 11 122551052 122551052 single base substitution C G intron_variant ESAD-UK 11 122551875 122551875 single base substitution G C intron_variant ESAD-UK 11 122552847 122552847 single base substitution G A intron_variant ESAD-UK 11 122558224 122558224 single base substitution G T intron_variant ESAD-UK 11 122559798 122559798 single base substitution G A intron_variant ESAD-UK 11 122560044 122560044 single base substitution G T intron_variant ESAD-UK 11 122560893 122560893 deletion of <=200bp T - intron_variant ESAD-UK 11 122560896 122560896 deletion of <=200bp A - intron_variant ESAD-UK 11 122563400 122563400 single base substitution C T intron_variant ESAD-UK 11 122563580 122563580 single base substitution C T intron_variant ESAD-UK 11 122563615 122563615 single base substitution C A intron_variant ESAD-UK 11 122564430 122564430 single base substitution A T intron_variant ESAD-UK 11 122566460 122566461 deletion of <=200bp AG - intron_variant ESAD-UK 11 122570120 122570120 single base substitution T G intron_variant ESAD-UK 11 122571134 122571134 single base substitution A C intron_variant ESAD-UK 11 122571784 122571784 single base substitution A C intron_variant ESAD-UK 11 122572439 122572439 single base substitution T A intron_variant ESAD-UK 11 122572473 122572473 single base substitution T G intron_variant ESAD-UK 11 122572477 122572477 single base substitution G T intron_variant ESAD-UK 11 122572763 122572763 single base substitution C T intron_variant ESAD-UK 11 122573896 122573896 single base substitution G A intron_variant ESAD-UK 11 122574675 122574675 single base substitution G C intron_variant ESAD-UK 11 122575135 122575135 single base substitution A C intron_variant ESAD-UK 11 122575135 122575135 single base substitution A C upstream_gene_variant ESAD-UK 11 122575158 122575158 single base substitution C T intron_variant ESAD-UK 11 122575158 122575158 single base substitution C T upstream_gene_variant ESAD-UK 11 122575638 122575638 single base substitution A C intron_variant ESAD-UK 11 122575638 122575638 single base substitution A C upstream_gene_variant ESAD-UK 11 122575939 122575939 single base substitution G C intron_variant ESAD-UK 11 122575939 122575939 single base substitution G C upstream_gene_variant ESAD-UK 11 122576566 122576566 single base substitution C G intron_variant ESAD-UK 11 122576566 122576566 single base substitution C G upstream_gene_variant ESAD-UK 11 122577498 122577498 single base substitution C G intron_variant ESAD-UK 11 122577498 122577498 single base substitution C G upstream_gene_variant ESAD-UK 11 122578692 122578692 single base substitution C G intron_variant ESAD-UK 11 122578692 122578692 single base substitution C G upstream_gene_variant ESAD-UK 11 122579538 122579538 single base substitution A G intron_variant ESAD-UK 11 122579538 122579538 single base substitution A G upstream_gene_variant ESAD-UK 11 122580841 122580841 single base substitution G A intron_variant ESAD-UK 11 122580963 122580963 single base substitution G T intron_variant ESAD-UK 11 122583534 122583534 single base substitution G C intron_variant ESAD-UK 11 122584144 122584144 single base substitution G A intron_variant ESAD-UK 11 122585414 122585414 single base substitution C T intron_variant ESAD-UK 11 122586004 122586004 single base substitution G A intron_variant ESAD-UK 11 122586614 122586614 single base substitution A C intron_variant ESAD-UK 11 122587432 122587432 single base substitution A T intron_variant ESAD-UK 11 122588408 122588408 single base substitution C T intron_variant ESAD-UK 11 122588536 122588536 deletion of <=200bp C - intron_variant ESAD-UK 11 122591680 122591680 single base substitution G A intron_variant ESAD-UK 11 122591692 122591692 single base substitution G T intron_variant ESAD-UK 11 122592082 122592082 insertion of <=200bp - G intron_variant ESAD-UK 11 122592113 122592113 single base substitution G C intron_variant ESAD-UK 11 122592589 122592589 single base substitution C G intron_variant ESAD-UK 11 122593562 122593562 single base substitution C T intron_variant ESAD-UK 11 122595918 122595918 single base substitution T G intron_variant ESAD-UK 11 122596804 122596804 single base substitution A C intron_variant ESAD-UK 11 122597193 122597193 single base substitution G A intron_variant ESAD-UK 11 122597381 122597381 single base substitution G T intron_variant ESAD-UK 11 122598223 122598223 single base substitution G T intron_variant ESAD-UK 11 122598223 122598223 single base substitution G T splice_region_variant ESAD-UK 11 122599612 122599612 single base substitution T A downstream_gene_variant ESAD-UK 11 122599612 122599612 single base substitution T A intron_variant ESAD-UK 11 122600070 122600070 single base substitution A T downstream_gene_variant ESAD-UK 11 122600070 122600070 single base substitution A T intron_variant ESAD-UK 11 122600171 122600171 single base substitution A G downstream_gene_variant ESAD-UK 11 122600171 122600171 single base substitution A G intron_variant ESAD-UK 11 122600413 122600413 single base substitution A C downstream_gene_variant ESAD-UK 11 122600413 122600413 single base substitution A C intron_variant ESAD-UK 11 122600740 122600740 single base substitution A C downstream_gene_variant ESAD-UK 11 122600740 122600740 single base substitution A C intron_variant ESAD-UK 11 122600867 122600867 single base substitution G A downstream_gene_variant ESAD-UK 11 122600867 122600867 single base substitution G A intron_variant ESAD-UK 11 122601555 122601555 single base substitution G A downstream_gene_variant ESAD-UK 11 122601555 122601555 single base substitution G A intron_variant ESAD-UK 11 122603826 122603826 single base substitution C A intron_variant ESAD-UK 11 122604507 122604507 single base substitution G C intron_variant ESAD-UK 11 122605719 122605719 single base substitution A C intron_variant ESAD-UK 11 122605988 122605988 single base substitution T A intron_variant ESAD-UK 11 122607007 122607007 single base substitution T A intron_variant ESAD-UK 11 122608430 122608430 single base substitution C A intron_variant ESAD-UK 11 122608573 122608573 single base substitution A G intron_variant ESAD-UK 11 122608919 122608919 single base substitution A C intron_variant ESAD-UK 11 122609502 122609502 single base substitution G C intron_variant ESAD-UK 11 122611257 122611257 single base substitution C A intron_variant ESAD-UK 11 122611769 122611769 single base substitution C T intron_variant ESAD-UK 11 122611998 122611998 single base substitution A T intron_variant ESAD-UK 11 122613348 122613348 single base substitution G A intron_variant ESAD-UK 11 122614506 122614506 single base substitution C T intron_variant ESAD-UK 11 122614596 122614596 single base substitution G C intron_variant ESAD-UK 11 122614771 122614771 single base substitution C T intron_variant ESAD-UK 11 122617218 122617218 single base substitution G T intron_variant ESAD-UK 11 122617284 122617284 single base substitution G A intron_variant ESAD-UK 11 122618008 122618008 single base substitution T G intron_variant ESAD-UK 11 122618084 122618084 single base substitution A T intron_variant ESAD-UK 11 122622332 122622332 single base substitution G A intron_variant ESAD-UK 11 122623027 122623027 single base substitution G T intron_variant ESAD-UK 11 122623385 122623385 single base substitution C T intron_variant ESAD-UK 11 122624376 122624376 single base substitution T C intron_variant ESAD-UK 11 122625682 122625682 single base substitution G A intron_variant ESAD-UK 11 122626120 122626120 single base substitution A T intron_variant ESAD-UK 11 122628661 122628661 single base substitution G A intron_variant ESAD-UK 11 122628863 122628863 single base substitution G T intron_variant ESAD-UK 11 122629413 122629413 single base substitution C A intron_variant ESAD-UK 11 122629462 122629462 single base substitution C A intron_variant ESAD-UK 11 122630704 122630704 single base substitution C G intron_variant ESAD-UK 11 122630916 122630916 single base substitution G A intron_variant ESAD-UK 11 122631497 122631497 single base substitution T A intron_variant ESAD-UK 11 122632355 122632355 single base substitution A G intron_variant ESAD-UK 11 122633043 122633043 single base substitution T A intron_variant ESAD-UK 11 122634593 122634593 single base substitution G A intron_variant ESAD-UK 11 122634739 122634739 single base substitution G A intron_variant ESAD-UK 11 122635172 122635172 single base substitution A T intron_variant ESAD-UK 11 122636326 122636326 single base substitution A C intron_variant ESAD-UK 11 122636340 122636340 single base substitution G T intron_variant ESAD-UK 11 122638396 122638396 single base substitution C T intron_variant ESAD-UK 11 122638830 122638830 single base substitution T G intron_variant ESAD-UK 11 122638841 122638841 single base substitution G C intron_variant ESAD-UK 11 122640438 122640438 single base substitution G A intron_variant ESAD-UK 11 122640438 122640438 single base substitution G A upstream_gene_variant ESAD-UK 11 122641060 122641060 single base substitution A G intron_variant ESAD-UK 11 122641060 122641060 single base substitution A G upstream_gene_variant ESAD-UK 11 122644257 122644257 single base substitution T G intron_variant ESAD-UK 11 122644257 122644257 single base substitution T G upstream_gene_variant ESAD-UK 11 122644975 122644975 single base substitution A C intron_variant ESAD-UK 11 122644975 122644975 single base substitution A C upstream_gene_variant ESAD-UK 11 122645736 122645736 single base substitution T A intron_variant ESAD-UK 11 122645736 122645736 single base substitution T A upstream_gene_variant ESAD-UK 11 122646996 122646996 single base substitution A C intron_variant ESAD-UK 11 122646996 122646996 single base substitution A C upstream_gene_variant ESAD-UK 11 122647099 122647099 single base substitution A C intron_variant ESAD-UK 11 122647099 122647099 single base substitution A C upstream_gene_variant ESAD-UK 11 122647349 122647349 single base substitution T G intron_variant ESAD-UK 11 122647349 122647349 single base substitution T G upstream_gene_variant ESAD-UK 11 122647766 122647766 single base substitution G C exon_variant ESAD-UK 11 122647766 122647766 single base substitution G C missense_variant D84H 250G>C ESAD-UK 11 122647766 122647766 single base substitution G C upstream_gene_variant ESAD-UK 11 122647779 122647779 single base substitution G A exon_variant ESAD-UK 11 122647779 122647779 single base substitution G A missense_variant R88Q 263G>A ESAD-UK 11 122647779 122647779 single base substitution G A upstream_gene_variant ESAD-UK 11 122647924 122647924 single base substitution C T splice_region_variant ESAD-UK 11 122647924 122647924 single base substitution C T upstream_gene_variant ESAD-UK 11 122648519 122648519 single base substitution C A intron_variant ESAD-UK 11 122648519 122648519 single base substitution C A upstream_gene_variant ESAD-UK 11 122649654 122649654 single base substitution G A intron_variant ESAD-UK 11 122649654 122649654 single base substitution G A upstream_gene_variant ESAD-UK 11 122651607 122651607 single base substitution G A downstream_gene_variant ESAD-UK 11 122651607 122651607 single base substitution G A intron_variant ESAD-UK 11 122651607 122651607 single base substitution G A upstream_gene_variant ESAD-UK 11 122653518 122653518 single base substitution G A downstream_gene_variant ESAD-UK 11 122653518 122653518 single base substitution G A exon_variant ESAD-UK 11 122653518 122653518 single base substitution G A intron_variant ESAD-UK 11 122653769 122653769 single base substitution G A downstream_gene_variant ESAD-UK 11 122653769 122653769 single base substitution G A exon_variant ESAD-UK 11 122653769 122653769 single base substitution G A missense_variant V204M 610G>A ESAD-UK 11 122654984 122654984 single base substitution A C downstream_gene_variant ESAD-UK 11 122654984 122654984 single base substitution A C intron_variant ESAD-UK 11 122657700 122657700 insertion of <=200bp - C intron_variant ESAD-UK 11 122657949 122657949 single base substitution G A intron_variant ESAD-UK 11 122659324 122659324 single base substitution G A intron_variant ESAD-UK 11 122660223 122660223 single base substitution G T downstream_gene_variant ESAD-UK 11 122660223 122660223 single base substitution G T intron_variant ESAD-UK 11 122662560 122662560 single base substitution C G downstream_gene_variant ESAD-UK 11 122662560 122662560 single base substitution C G intron_variant ESAD-UK 11 122662560 122662560 single base substitution C G upstream_gene_variant ESAD-UK 11 122662578 122662578 single base substitution T G downstream_gene_variant ESAD-UK 11 122662578 122662578 single base substitution T G intron_variant ESAD-UK 11 122662578 122662578 single base substitution T G upstream_gene_variant ESAD-UK 11 122663354 122663354 single base substitution G A downstream_gene_variant ESAD-UK 11 122663354 122663354 single base substitution G A intron_variant ESAD-UK 11 122663354 122663354 single base substitution G A upstream_gene_variant ESAD-UK 11 122663413 122663413 single base substitution C T downstream_gene_variant ESAD-UK 11 122663413 122663413 single base substitution C T intron_variant ESAD-UK 11 122663413 122663413 single base substitution C T upstream_gene_variant ESAD-UK 11 122663583 122663583 deletion of <=200bp T - downstream_gene_variant ESAD-UK 11 122663583 122663583 deletion of <=200bp T - intron_variant ESAD-UK 11 122663583 122663583 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 122669159 122669159 single base substitution G A downstream_gene_variant ESAD-UK 11 122669159 122669159 single base substitution G A intron_variant ESAD-UK 11 122669608 122669608 single base substitution A C downstream_gene_variant ESAD-UK 11 122669608 122669608 single base substitution A C intron_variant ESAD-UK 11 122669696 122669696 single base substitution C A downstream_gene_variant ESAD-UK 11 122669696 122669696 single base substitution C A stop_gained C468* 1404C>A ESAD-UK 11 122670534 122670534 single base substitution C G downstream_gene_variant ESAD-UK 11 122670534 122670534 single base substitution C G intron_variant ESAD-UK 11 122673091 122673091 single base substitution G A intron_variant ESAD-UK 11 122677614 122677614 single base substitution C T intron_variant ESAD-UK 11 122680487 122680487 single base substitution G T stop_gained E615* 1843G>T ESAD-UK 11 122681068 122681068 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 122682079 122682079 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 122682425 122682425 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 122683170 122683170 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 122684298 122684298 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 122684787 122684787 single base substitution G T 3_prime_UTR_variant ESAD-UK 11 122685773 122685773 single base substitution G A downstream_gene_variant ESAD-UK 11 122686439 122686439 single base substitution G A downstream_gene_variant ESAD-UK 11 122688800 122688800 single base substitution C A downstream_gene_variant ESAD-UK 11 122689388 122689388 single base substitution A C downstream_gene_variant ESAD-UK 11 122689491 122689491 single base substitution A C downstream_gene_variant ESAD-UK 11 122690125 122690125 single base substitution T C downstream_gene_variant GBM-US 11 122653798 122653798 single base substitution G A downstream_gene_variant GBM-US 11 122653798 122653798 single base substitution G A exon_variant GBM-US 11 122653798 122653798 single base substitution G A synonymous_variant V213V 639G>A KIRC-US 11 122665475 122665475 single base substitution G A exon_variant KIRC-US 11 122665475 122665475 single base substitution G A missense_variant R349K 1046G>A KIRC-US 11 122665475 122665475 single base substitution G A upstream_gene_variant LAML-KR 11 122653572 122653572 single base substitution T C downstream_gene_variant LAML-KR 11 122653572 122653572 single base substitution T C exon_variant LAML-KR 11 122653572 122653572 single base substitution T C intron_variant LAML-KR 11 122653689 122653689 single base substitution C A downstream_gene_variant LAML-KR 11 122653689 122653689 single base substitution C A exon_variant LAML-KR 11 122653689 122653689 single base substitution C A intron_variant LAML-KR 11 122659918 122659918 single base substitution T G exon_variant LAML-KR 11 122659918 122659918 single base substitution T G synonymous_variant G294G 882T>G LAML-KR 11 122665437 122665437 single base substitution A G exon_variant LAML-KR 11 122665437 122665437 single base substitution A G synonymous_variant S336S 1008A>G LAML-KR 11 122665437 122665437 single base substitution A G upstream_gene_variant LAML-KR 11 122665646 122665646 single base substitution C T downstream_gene_variant LAML-KR 11 122665646 122665646 single base substitution C T intron_variant LAML-KR 11 122677047 122677047 single base substitution T C intron_variant LICA-FR 11 122553948 122553949 deletion of <=200bp AA - intron_variant LICA-FR 11 122567984 122567984 single base substitution T A intron_variant LICA-FR 11 122571206 122571206 insertion of <=200bp - TT intron_variant LICA-FR 11 122572412 122572412 single base substitution T C intron_variant LICA-FR 11 122579000 122579000 insertion of <=200bp - T intron_variant LICA-FR 11 122579000 122579000 insertion of <=200bp - T upstream_gene_variant LICA-FR 11 122585093 122585093 single base substitution G A intron_variant LICA-FR 11 122585381 122585381 single base substitution C A intron_variant LICA-FR 11 122594510 122594510 single base substitution C G intron_variant LICA-FR 11 122604274 122604274 single base substitution G A intron_variant LICA-FR 11 122607301 122607301 single base substitution G T intron_variant LICA-FR 11 122623363 122623363 single base substitution G C intron_variant LICA-FR 11 122628227 122628227 single base substitution A T intron_variant LICA-FR 11 122644703 122644703 single base substitution A C intron_variant LICA-FR 11 122644703 122644703 single base substitution A C upstream_gene_variant LICA-FR 11 122650281 122650281 single base substitution C T exon_variant LICA-FR 11 122650281 122650281 single base substitution C T missense_variant A160V 479C>T LICA-FR 11 122650281 122650281 single base substitution C T upstream_gene_variant LICA-FR 11 122657526 122657526 single base substitution C T intron_variant LICA-FR 11 122667655 122667655 single base substitution G A downstream_gene_variant LICA-FR 11 122667655 122667655 single base substitution G A exon_variant LICA-FR 11 122667655 122667655 single base substitution G A missense_variant S424N 1271G>A LICA-FR 11 122667665 122667665 single base substitution G T downstream_gene_variant LICA-FR 11 122667665 122667665 single base substitution G T exon_variant LICA-FR 11 122667665 122667665 single base substitution G T missense_variant Q427H 1281G>T LICA-FR 11 122689863 122689863 single base substitution G A downstream_gene_variant LIHC-US 11 122659819 122659819 single base substitution C T exon_variant LIHC-US 11 122659819 122659819 single base substitution C T synonymous_variant V261V 783C>T LIHC-US 11 122659905 122659905 single base substitution G A exon_variant LIHC-US 11 122659905 122659905 single base substitution G A missense_variant S290N 869G>A LINC-JP 11 122522099 122522099 single base substitution G A upstream_gene_variant LINC-JP 11 122525145 122525145 single base substitution G C upstream_gene_variant LINC-JP 11 122526777 122526777 single base substitution C G exon_variant LINC-JP 11 122526777 122526777 single base substitution C G missense_variant P7R 20C>G LINC-JP 11 122535534 122535534 single base substitution T A intron_variant LINC-JP 11 122540800 122540800 single base substitution G T intron_variant LINC-JP 11 122554486 122554486 single base substitution A C intron_variant LINC-JP 11 122554905 122554905 single base substitution C T intron_variant LINC-JP 11 122576829 122576829 single base substitution T C intron_variant LINC-JP 11 122576829 122576829 single base substitution T C upstream_gene_variant LINC-JP 11 122578534 122578534 single base substitution C G intron_variant LINC-JP 11 122578534 122578534 single base substitution C G upstream_gene_variant LINC-JP 11 122588897 122588897 single base substitution C T intron_variant LINC-JP 11 122591344 122591344 single base substitution T G intron_variant LINC-JP 11 122605435 122605435 single base substitution T C intron_variant LINC-JP 11 122621540 122621540 single base substitution C T intron_variant LINC-JP 11 122634027 122634027 single base substitution C A intron_variant LINC-JP 11 122644767 122644767 deletion of <=200bp A - intron_variant LINC-JP 11 122644767 122644767 deletion of <=200bp A - upstream_gene_variant LINC-JP 11 122647589 122647589 single base substitution A G intron_variant LINC-JP 11 122647589 122647589 single base substitution A G upstream_gene_variant LINC-JP 11 122647848 122647848 single base substitution C T exon_variant LINC-JP 11 122647848 122647848 single base substitution C T missense_variant S111L 332C>T LINC-JP 11 122647848 122647848 single base substitution C T upstream_gene_variant LINC-JP 11 122648021 122648021 single base substitution A T intron_variant LINC-JP 11 122648021 122648021 single base substitution A T upstream_gene_variant LINC-JP 11 122653851 122653851 deletion of <=200bp C - downstream_gene_variant LINC-JP 11 122653851 122653851 deletion of <=200bp C - exon_variant LINC-JP 11 122653851 122653851 deletion of <=200bp C - frameshift_variant A231 LINC-JP 11 122656203 122656203 single base substitution C A intron_variant LINC-JP 11 122657467 122657467 single base substitution A T intron_variant LINC-JP 11 122665341 122665341 single base substitution T C intron_variant LINC-JP 11 122665341 122665341 single base substitution T C upstream_gene_variant LINC-JP 11 122667467 122667467 single base substitution T C downstream_gene_variant LINC-JP 11 122667467 122667467 single base substitution T C intron_variant LINC-JP 11 122669553 122669553 single base substitution T G downstream_gene_variant LINC-JP 11 122669553 122669553 single base substitution T G intron_variant LINC-JP 11 122679035 122679035 single base substitution A G intron_variant LIRI-JP 11 122524008 122524008 single base substitution G T upstream_gene_variant LIRI-JP 11 122524324 122524324 single base substitution A G upstream_gene_variant LIRI-JP 11 122524956 122524956 single base substitution C T upstream_gene_variant LIRI-JP 11 122530682 122530682 single base substitution G A intron_variant LIRI-JP 11 122533002 122533002 single base substitution C A intron_variant LIRI-JP 11 122533814 122533814 single base substitution T C intron_variant LIRI-JP 11 122534158 122534158 single base substitution A T intron_variant LIRI-JP 11 122535954 122535954 single base substitution T C intron_variant LIRI-JP 11 122536222 122536222 single base substitution G A intron_variant LIRI-JP 11 122536521 122536532 deletion of <=200bp GGTTAAATAAGA - intron_variant LIRI-JP 11 122536577 122536577 single base substitution T C intron_variant LIRI-JP 11 122537152 122537152 single base substitution A G intron_variant LIRI-JP 11 122537417 122537417 single base substitution G A intron_variant LIRI-JP 11 122537899 122537899 single base substitution G T intron_variant LIRI-JP 11 122539938 122539938 single base substitution C T intron_variant LIRI-JP 11 122543150 122543150 single base substitution C T intron_variant LIRI-JP 11 122543297 122543297 single base substitution G T intron_variant LIRI-JP 11 122546199 122546199 single base substitution T G intron_variant LIRI-JP 11 122546214 122546214 single base substitution A T intron_variant LIRI-JP 11 122550097 122550097 single base substitution G T intron_variant LIRI-JP 11 122551440 122551440 single base substitution G A intron_variant LIRI-JP 11 122555272 122555272 insertion of <=200bp - T intron_variant LIRI-JP 11 122556086 122556086 single base substitution T C intron_variant LIRI-JP 11 122556858 122556858 single base substitution G A intron_variant LIRI-JP 11 122556997 122556997 single base substitution G T intron_variant LIRI-JP 11 122557136 122557136 single base substitution A G intron_variant LIRI-JP 11 122557546 122557546 single base substitution C T intron_variant LIRI-JP 11 122557732 122557732 single base substitution C T intron_variant LIRI-JP 11 122558722 122558722 single base substitution T C intron_variant LIRI-JP 11 122561576 122561576 single base substitution G A intron_variant LIRI-JP 11 122561764 122561764 single base substitution C A intron_variant LIRI-JP 11 122563499 122563499 single base substitution A G intron_variant LIRI-JP 11 122563569 122563569 single base substitution T C intron_variant LIRI-JP 11 122564571 122564571 single base substitution T C intron_variant LIRI-JP 11 122565597 122565597 single base substitution A G intron_variant LIRI-JP 11 122567169 122567169 single base substitution C G intron_variant LIRI-JP 11 122569590 122569590 single base substitution C G intron_variant LIRI-JP 11 122569757 122569757 single base substitution C T intron_variant LIRI-JP 11 122570702 122570702 single base substitution T A intron_variant LIRI-JP 11 122573762 122573762 single base substitution C A intron_variant LIRI-JP 11 122575533 122575533 single base substitution A G intron_variant LIRI-JP 11 122575533 122575533 single base substitution A G upstream_gene_variant LIRI-JP 11 122576508 122576508 single base substitution A T intron_variant LIRI-JP 11 122576508 122576508 single base substitution A T upstream_gene_variant LIRI-JP 11 122578051 122578051 single base substitution T C intron_variant LIRI-JP 11 122578051 122578051 single base substitution T C upstream_gene_variant LIRI-JP 11 122579461 122579461 single base substitution T C intron_variant LIRI-JP 11 122579461 122579461 single base substitution T C upstream_gene_variant LIRI-JP 11 122580341 122580341 single base substitution T C intron_variant LIRI-JP 11 122580484 122580484 insertion of <=200bp - C intron_variant LIRI-JP 11 122580501 122580501 single base substitution T C intron_variant LIRI-JP 11 122580582 122580582 single base substitution A G intron_variant LIRI-JP 11 122580669 122580669 single base substitution G T intron_variant LIRI-JP 11 122582075 122582075 single base substitution C T intron_variant LIRI-JP 11 122584040 122584040 single base substitution G A intron_variant LIRI-JP 11 122584595 122584595 single base substitution G A intron_variant LIRI-JP 11 122588393 122588393 single base substitution C A intron_variant LIRI-JP 11 122589713 122589713 single base substitution C A intron_variant LIRI-JP 11 122589714 122589714 single base substitution C G intron_variant LIRI-JP 11 122589906 122589906 single base substitution C T intron_variant LIRI-JP 11 122591290 122591290 single base substitution C T intron_variant LIRI-JP 11 122594067 122594067 single base substitution A G intron_variant LIRI-JP 11 122595634 122595634 single base substitution G T intron_variant LIRI-JP 11 122595949 122595949 single base substitution A G intron_variant LIRI-JP 11 122596541 122596541 single base substitution A G intron_variant LIRI-JP 11 122598347 122598347 single base substitution T C downstream_gene_variant LIRI-JP 11 122598347 122598347 single base substitution T C intron_variant LIRI-JP 11 122599103 122599103 single base substitution G T downstream_gene_variant LIRI-JP 11 122599103 122599103 single base substitution G T intron_variant LIRI-JP 11 122600579 122600579 single base substitution T C downstream_gene_variant LIRI-JP 11 122600579 122600579 single base substitution T C intron_variant LIRI-JP 11 122601010 122601010 single base substitution G A downstream_gene_variant LIRI-JP 11 122601010 122601010 single base substitution G A intron_variant LIRI-JP 11 122602855 122602855 single base substitution A G downstream_gene_variant LIRI-JP 11 122602855 122602855 single base substitution A G intron_variant LIRI-JP 11 122604573 122604573 single base substitution A C intron_variant LIRI-JP 11 122605872 122605872 single base substitution A G intron_variant LIRI-JP 11 122607386 122607386 single base substitution A T intron_variant LIRI-JP 11 122607559 122607559 single base substitution T G intron_variant LIRI-JP 11 122607584 122607584 single base substitution C G intron_variant LIRI-JP 11 122607734 122607734 single base substitution T A intron_variant LIRI-JP 11 122608253 122608253 single base substitution G A intron_variant LIRI-JP 11 122609460 122609460 single base substitution T C intron_variant LIRI-JP 11 122610091 122610091 single base substitution G A intron_variant LIRI-JP 11 122610729 122610729 single base substitution T A intron_variant LIRI-JP 11 122611487 122611487 single base substitution G T intron_variant LIRI-JP 11 122613521 122613521 single base substitution A G intron_variant LIRI-JP 11 122614507 122614507 single base substitution G A intron_variant LIRI-JP 11 122615705 122615705 single base substitution G C intron_variant LIRI-JP 11 122616048 122616048 single base substitution G A intron_variant LIRI-JP 11 122616416 122616416 single base substitution C G intron_variant LIRI-JP 11 122618035 122618035 single base substitution T C intron_variant LIRI-JP 11 122618659 122618659 single base substitution A G intron_variant LIRI-JP 11 122621117 122621117 single base substitution T G intron_variant LIRI-JP 11 122621310 122621310 single base substitution A T intron_variant LIRI-JP 11 122621663 122621663 single base substitution G A intron_variant LIRI-JP 11 122623238 122623238 single base substitution G A intron_variant LIRI-JP 11 122624804 122624804 single base substitution G T intron_variant LIRI-JP 11 122625083 122625083 single base substitution A G intron_variant LIRI-JP 11 122626715 122626715 single base substitution A T intron_variant LIRI-JP 11 122626720 122626720 single base substitution C A intron_variant LIRI-JP 11 122628357 122628357 single base substitution A G intron_variant LIRI-JP 11 122628358 122628358 single base substitution G T intron_variant LIRI-JP 11 122632601 122632601 single base substitution G T intron_variant LIRI-JP 11 122634366 122634366 single base substitution C T intron_variant LIRI-JP 11 122634454 122634454 single base substitution T C intron_variant LIRI-JP 11 122634629 122634629 single base substitution G A intron_variant LIRI-JP 11 122634787 122634787 single base substitution C T intron_variant LIRI-JP 11 122634816 122634816 single base substitution A G intron_variant LIRI-JP 11 122635390 122635390 single base substitution T C intron_variant LIRI-JP 11 122636205 122636205 single base substitution G A intron_variant LIRI-JP 11 122636550 122636550 single base substitution C T intron_variant LIRI-JP 11 122637242 122637242 single base substitution G A intron_variant LIRI-JP 11 122637551 122637551 single base substitution A T intron_variant LIRI-JP 11 122637783 122637783 single base substitution C T intron_variant LIRI-JP 11 122638226 122638226 single base substitution G A intron_variant LIRI-JP 11 122638671 122638671 single base substitution C G intron_variant LIRI-JP 11 122640286 122640286 single base substitution G T intron_variant LIRI-JP 11 122640286 122640286 single base substitution G T upstream_gene_variant LIRI-JP 11 122640594 122640594 single base substitution T C intron_variant LIRI-JP 11 122640594 122640594 single base substitution T C upstream_gene_variant LIRI-JP 11 122642793 122642793 single base substitution T A intron_variant LIRI-JP 11 122642793 122642793 single base substitution T A upstream_gene_variant LIRI-JP 11 122645485 122645485 single base substitution T C intron_variant LIRI-JP 11 122645485 122645485 single base substitution T C upstream_gene_variant LIRI-JP 11 122646011 122646011 single base substitution A T intron_variant LIRI-JP 11 122646011 122646011 single base substitution A T upstream_gene_variant LIRI-JP 11 122646539 122646539 single base substitution A G exon_variant LIRI-JP 11 122646539 122646539 single base substitution A G intron_variant LIRI-JP 11 122646539 122646539 single base substitution A G upstream_gene_variant LIRI-JP 11 122647155 122647155 single base substitution T C intron_variant LIRI-JP 11 122647155 122647155 single base substitution T C upstream_gene_variant LIRI-JP 11 122647502 122647502 single base substitution T C intron_variant LIRI-JP 11 122647502 122647502 single base substitution T C upstream_gene_variant LIRI-JP 11 122647748 122647748 single base substitution G A exon_variant LIRI-JP 11 122647748 122647748 single base substitution G A missense_variant G78S 232G>A LIRI-JP 11 122647748 122647748 single base substitution G A upstream_gene_variant LIRI-JP 11 122648504 122648504 single base substitution C T intron_variant LIRI-JP 11 122648504 122648504 single base substitution C T upstream_gene_variant LIRI-JP 11 122649636 122649636 single base substitution A G intron_variant LIRI-JP 11 122649636 122649636 single base substitution A G upstream_gene_variant LIRI-JP 11 122651041 122651041 single base substitution G A downstream_gene_variant LIRI-JP 11 122651041 122651041 single base substitution G A intron_variant LIRI-JP 11 122651041 122651041 single base substitution G A upstream_gene_variant LIRI-JP 11 122651070 122651070 single base substitution C T downstream_gene_variant LIRI-JP 11 122651070 122651070 single base substitution C T intron_variant LIRI-JP 11 122651070 122651070 single base substitution C T upstream_gene_variant LIRI-JP 11 122652368 122652368 single base substitution C T downstream_gene_variant LIRI-JP 11 122652368 122652368 single base substitution C T intron_variant LIRI-JP 11 122652368 122652368 single base substitution C T upstream_gene_variant LIRI-JP 11 122652907 122652907 single base substitution C T downstream_gene_variant LIRI-JP 11 122652907 122652907 single base substitution C T intron_variant LIRI-JP 11 122652907 122652907 single base substitution C T upstream_gene_variant LIRI-JP 11 122653049 122653049 single base substitution G T downstream_gene_variant LIRI-JP 11 122653049 122653049 single base substitution G T intron_variant LIRI-JP 11 122653049 122653049 single base substitution G T upstream_gene_variant LIRI-JP 11 122654317 122654317 single base substitution T C downstream_gene_variant LIRI-JP 11 122654317 122654317 single base substitution T C intron_variant LIRI-JP 11 122657233 122657233 single base substitution T C intron_variant LIRI-JP 11 122657454 122657454 single base substitution A G intron_variant LIRI-JP 11 122657689 122657689 single base substitution C A intron_variant LIRI-JP 11 122659667 122659667 deletion of <=200bp G - intron_variant LIRI-JP 11 122660640 122660640 single base substitution C T downstream_gene_variant LIRI-JP 11 122660640 122660640 single base substitution C T intron_variant LIRI-JP 11 122660640 122660640 single base substitution C T upstream_gene_variant LIRI-JP 11 122664106 122664106 single base substitution A G downstream_gene_variant LIRI-JP 11 122664106 122664106 single base substitution A G intron_variant LIRI-JP 11 122664106 122664106 single base substitution A G upstream_gene_variant LIRI-JP 11 122664539 122664539 single base substitution T A downstream_gene_variant LIRI-JP 11 122664539 122664539 single base substitution T A intron_variant LIRI-JP 11 122664539 122664539 single base substitution T A upstream_gene_variant LIRI-JP 11 122664945 122664945 single base substitution G A downstream_gene_variant LIRI-JP 11 122664945 122664945 single base substitution G A intron_variant LIRI-JP 11 122664945 122664945 single base substitution G A upstream_gene_variant LIRI-JP 11 122665263 122665263 single base substitution A G intron_variant LIRI-JP 11 122665263 122665263 single base substitution A G upstream_gene_variant LIRI-JP 11 122666007 122666007 single base substitution C T downstream_gene_variant LIRI-JP 11 122666007 122666007 single base substitution C T intron_variant LIRI-JP 11 122667229 122667229 single base substitution C T downstream_gene_variant LIRI-JP 11 122667229 122667229 single base substitution C T intron_variant LIRI-JP 11 122668831 122668831 single base substitution T C downstream_gene_variant LIRI-JP 11 122668831 122668831 single base substitution T C intron_variant LIRI-JP 11 122669512 122669512 single base substitution A G downstream_gene_variant LIRI-JP 11 122669512 122669512 single base substitution A G intron_variant LIRI-JP 11 122669968 122669968 single base substitution G A downstream_gene_variant LIRI-JP 11 122669968 122669968 single base substitution G A intron_variant LIRI-JP 11 122671843 122671843 single base substitution G T downstream_gene_variant LIRI-JP 11 122671843 122671843 single base substitution G T intron_variant LIRI-JP 11 122672978 122672978 single base substitution A T intron_variant LIRI-JP 11 122673853 122673853 single base substitution T C intron_variant LIRI-JP 11 122673991 122673991 single base substitution G C intron_variant LIRI-JP 11 122674009 122674009 single base substitution C A intron_variant LIRI-JP 11 122674819 122674819 single base substitution C A intron_variant LIRI-JP 11 122675250 122675250 single base substitution C T intron_variant LIRI-JP 11 122676109 122676109 single base substitution G A intron_variant LIRI-JP 11 122676432 122676432 single base substitution T C intron_variant LIRI-JP 11 122676477 122676477 single base substitution C G intron_variant LIRI-JP 11 122678262 122678262 single base substitution T C intron_variant LIRI-JP 11 122679728 122679728 insertion of <=200bp - T intron_variant LIRI-JP 11 122679853 122679853 single base substitution G C intron_variant LIRI-JP 11 122681215 122681215 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 122682179 122682179 single base substitution A C 3_prime_UTR_variant LIRI-JP 11 122682879 122682879 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 122682885 122682885 single base substitution C G 3_prime_UTR_variant LIRI-JP 11 122684265 122684265 single base substitution A T 3_prime_UTR_variant LIRI-JP 11 122685193 122685193 single base substitution G T downstream_gene_variant LIRI-JP 11 122685660 122685660 single base substitution C T downstream_gene_variant LIRI-JP 11 122686304 122686304 single base substitution A G downstream_gene_variant LIRI-JP 11 122686807 122686807 single base substitution C A downstream_gene_variant LIRI-JP 11 122687918 122687918 single base substitution G C downstream_gene_variant LUSC-KR 11 122521872 122521872 single base substitution A G upstream_gene_variant LUSC-KR 11 122525166 122525166 single base substitution G T upstream_gene_variant LUSC-KR 11 122526406 122526406 single base substitution T A 5_prime_UTR_variant LUSC-KR 11 122526406 122526406 single base substitution T A upstream_gene_variant LUSC-KR 11 122526831 122526831 single base substitution G A exon_variant LUSC-KR 11 122526831 122526831 single base substitution G A missense_variant R25Q 74G>A LUSC-KR 11 122528487 122528487 single base substitution C G intron_variant LUSC-KR 11 122528523 122528523 single base substitution G T intron_variant LUSC-KR 11 122530595 122530595 single base substitution G C intron_variant LUSC-KR 11 122530845 122530845 single base substitution G T intron_variant LUSC-KR 11 122532402 122532402 single base substitution A G intron_variant LUSC-KR 11 122533044 122533044 single base substitution T A intron_variant LUSC-KR 11 122533287 122533287 single base substitution G A intron_variant LUSC-KR 11 122534896 122534896 single base substitution G C intron_variant LUSC-KR 11 122537377 122537377 single base substitution G A intron_variant LUSC-KR 11 122540116 122540116 single base substitution C A intron_variant LUSC-KR 11 122543655 122543655 single base substitution C T intron_variant LUSC-KR 11 122547142 122547142 single base substitution G A intron_variant LUSC-KR 11 122547162 122547162 single base substitution G T intron_variant LUSC-KR 11 122547553 122547553 single base substitution C G intron_variant LUSC-KR 11 122548259 122548259 single base substitution G T intron_variant LUSC-KR 11 122551100 122551100 single base substitution G T intron_variant LUSC-KR 11 122553964 122553964 single base substitution A T intron_variant LUSC-KR 11 122554055 122554055 single base substitution G T intron_variant LUSC-KR 11 122555941 122555941 single base substitution A C intron_variant LUSC-KR 11 122561554 122561554 single base substitution C G intron_variant LUSC-KR 11 122561627 122561627 single base substitution G T intron_variant LUSC-KR 11 122561628 122561628 single base substitution G T intron_variant LUSC-KR 11 122564754 122564754 single base substitution A C intron_variant LUSC-KR 11 122565931 122565931 single base substitution C G intron_variant LUSC-KR 11 122567722 122567722 single base substitution G A intron_variant LUSC-KR 11 122568267 122568267 single base substitution G T intron_variant LUSC-KR 11 122570318 122570318 single base substitution G T intron_variant LUSC-KR 11 122571657 122571657 single base substitution C T intron_variant LUSC-KR 11 122574062 122574062 single base substitution G T intron_variant LUSC-KR 11 122574603 122574603 single base substitution A G intron_variant LUSC-KR 11 122579017 122579017 single base substitution G T intron_variant LUSC-KR 11 122579017 122579017 single base substitution G T upstream_gene_variant LUSC-KR 11 122582094 122582094 single base substitution G A intron_variant LUSC-KR 11 122582113 122582113 single base substitution C T intron_variant LUSC-KR 11 122585455 122585455 single base substitution G A intron_variant LUSC-KR 11 122585703 122585703 single base substitution G C intron_variant LUSC-KR 11 122586479 122586479 single base substitution G T intron_variant LUSC-KR 11 122586710 122586710 single base substitution C T intron_variant LUSC-KR 11 122586891 122586891 single base substitution G T intron_variant LUSC-KR 11 122588653 122588653 single base substitution C G intron_variant LUSC-KR 11 122589149 122589149 single base substitution C A intron_variant LUSC-KR 11 122590077 122590077 single base substitution G A intron_variant LUSC-KR 11 122591291 122591291 single base substitution T C intron_variant LUSC-KR 11 122594486 122594486 single base substitution T A intron_variant LUSC-KR 11 122605419 122605419 single base substitution G T intron_variant LUSC-KR 11 122607534 122607534 single base substitution G C intron_variant LUSC-KR 11 122607980 122607980 single base substitution A T intron_variant LUSC-KR 11 122615608 122615608 single base substitution C T intron_variant LUSC-KR 11 122615651 122615651 single base substitution G A intron_variant LUSC-KR 11 122618107 122618107 single base substitution C T intron_variant LUSC-KR 11 122620410 122620410 single base substitution A G intron_variant LUSC-KR 11 122626102 122626102 single base substitution T C intron_variant LUSC-KR 11 122629172 122629172 single base substitution A T intron_variant LUSC-KR 11 122629984 122629984 single base substitution A G intron_variant LUSC-KR 11 122630476 122630476 single base substitution A T intron_variant LUSC-KR 11 122632338 122632338 single base substitution G A intron_variant LUSC-KR 11 122644127 122644127 single base substitution C T intron_variant LUSC-KR 11 122644127 122644127 single base substitution C T upstream_gene_variant LUSC-KR 11 122644456 122644456 single base substitution C T intron_variant LUSC-KR 11 122644456 122644456 single base substitution C T upstream_gene_variant LUSC-KR 11 122646465 122646465 single base substitution G C exon_variant LUSC-KR 11 122646465 122646465 single base substitution G C intron_variant LUSC-KR 11 122646465 122646465 single base substitution G C upstream_gene_variant LUSC-KR 11 122664610 122664610 single base substitution A T downstream_gene_variant LUSC-KR 11 122664610 122664610 single base substitution A T intron_variant LUSC-KR 11 122664610 122664610 single base substitution A T upstream_gene_variant LUSC-KR 11 122666483 122666483 single base substitution G T downstream_gene_variant LUSC-KR 11 122666483 122666483 single base substitution G T intron_variant LUSC-KR 11 122666790 122666790 single base substitution C T downstream_gene_variant LUSC-KR 11 122666790 122666790 single base substitution C T intron_variant LUSC-KR 11 122670670 122670670 single base substitution C A downstream_gene_variant LUSC-KR 11 122670670 122670670 single base substitution C A intron_variant LUSC-KR 11 122677047 122677047 single base substitution T C intron_variant LUSC-KR 11 122678299 122678299 single base substitution C G intron_variant LUSC-KR 11 122678713 122678713 single base substitution A G intron_variant LUSC-KR 11 122678911 122678911 single base substitution C T intron_variant LUSC-KR 11 122680599 122680599 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 122681254 122681254 single base substitution T C 3_prime_UTR_variant LUSC-KR 11 122682111 122682111 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 122682623 122682623 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 122684355 122684355 single base substitution G C 3_prime_UTR_variant LUSC-US 11 122646964 122646964 single base substitution C A exon_variant LUSC-US 11 122646964 122646964 single base substitution C A missense_variant Q67K 199C>A LUSC-US 11 122646964 122646964 single base substitution C A upstream_gene_variant LUSC-US 11 122650303 122650303 single base substitution T A exon_variant LUSC-US 11 122650303 122650303 single base substitution T A stop_gained Y167* 501T>A LUSC-US 11 122650303 122650303 single base substitution T A upstream_gene_variant LUSC-US 11 122653771 122653771 single base substitution G T downstream_gene_variant LUSC-US 11 122653771 122653771 single base substitution G T exon_variant LUSC-US 11 122653771 122653771 single base substitution G T synonymous_variant V204V 612G>T LUSC-US 11 122653834 122653834 single base substitution C A downstream_gene_variant LUSC-US 11 122653834 122653834 single base substitution C A exon_variant LUSC-US 11 122653834 122653834 single base substitution C A synonymous_variant P225P 675C>A LUSC-US 11 122669743 122669743 single base substitution G A downstream_gene_variant LUSC-US 11 122669743 122669743 single base substitution G A splice_donor_variant LUSC-US 11 122678809 122678809 single base substitution C A synonymous_variant S579S 1737C>A MALY-DE 11 122524990 122524990 single base substitution A T upstream_gene_variant MALY-DE 11 122529116 122529116 single base substitution T C intron_variant MALY-DE 11 122535551 122535551 single base substitution C T intron_variant MALY-DE 11 122535621 122535621 single base substitution C T intron_variant MALY-DE 11 122540909 122540909 single base substitution A G intron_variant MALY-DE 11 122548660 122548660 single base substitution A T intron_variant MALY-DE 11 122553671 122553671 single base substitution G A intron_variant MALY-DE 11 122554863 122554863 single base substitution A G intron_variant MALY-DE 11 122566750 122566750 single base substitution C G intron_variant MALY-DE 11 122587208 122587209 deletion of <=200bp GT - intron_variant MALY-DE 11 122588509 122588509 single base substitution C T intron_variant MALY-DE 11 122589386 122589386 single base substitution G C intron_variant MALY-DE 11 122592152 122592152 single base substitution G A intron_variant MALY-DE 11 122593886 122593886 insertion of <=200bp - A intron_variant MALY-DE 11 122596306 122596306 single base substitution G T intron_variant MALY-DE 11 122597114 122597114 single base substitution G A intron_variant MALY-DE 11 122597662 122597662 single base substitution G A intron_variant MALY-DE 11 122604592 122604592 insertion of <=200bp - T intron_variant MALY-DE 11 122608710 122608710 single base substitution A T intron_variant MALY-DE 11 122609891 122609891 single base substitution G A intron_variant MALY-DE 11 122616536 122616539 deletion of <=200bp TCCC - intron_variant MALY-DE 11 122632357 122632357 single base substitution T A intron_variant MALY-DE 11 122632441 122632441 single base substitution C G intron_variant MALY-DE 11 122637650 122637650 single base substitution G A intron_variant MALY-DE 11 122643481 122643481 single base substitution T A intron_variant MALY-DE 11 122643481 122643481 single base substitution T A upstream_gene_variant MALY-DE 11 122644713 122644713 single base substitution A G intron_variant MALY-DE 11 122644713 122644713 single base substitution A G upstream_gene_variant MALY-DE 11 122644763 122644763 single base substitution A T intron_variant MALY-DE 11 122644763 122644763 single base substitution A T upstream_gene_variant MALY-DE 11 122645190 122645190 single base substitution C T intron_variant MALY-DE 11 122645190 122645190 single base substitution C T upstream_gene_variant MALY-DE 11 122649000 122649000 single base substitution T C intron_variant MALY-DE 11 122649000 122649000 single base substitution T C upstream_gene_variant MALY-DE 11 122649197 122649197 single base substitution T G intron_variant MALY-DE 11 122649197 122649197 single base substitution T G upstream_gene_variant MALY-DE 11 122649208 122649208 single base substitution A G intron_variant MALY-DE 11 122649208 122649208 single base substitution A G upstream_gene_variant MALY-DE 11 122649294 122649294 single base substitution T C intron_variant MALY-DE 11 122649294 122649294 single base substitution T C upstream_gene_variant MALY-DE 11 122655050 122655050 single base substitution A C downstream_gene_variant MALY-DE 11 122655050 122655050 single base substitution A C intron_variant MALY-DE 11 122662238 122662238 single base substitution A G downstream_gene_variant MALY-DE 11 122662238 122662238 single base substitution A G intron_variant MALY-DE 11 122662238 122662238 single base substitution A G upstream_gene_variant MALY-DE 11 122672883 122672883 single base substitution C T downstream_gene_variant MALY-DE 11 122672883 122672883 single base substitution C T intron_variant MALY-DE 11 122673575 122673575 single base substitution G T intron_variant MALY-DE 11 122679470 122679470 single base substitution A C intron_variant MELA-AU 11 122521604 122521604 single base substitution C T upstream_gene_variant MELA-AU 11 122521652 122521652 single base substitution C T upstream_gene_variant MELA-AU 11 122521988 122521988 single base substitution T G upstream_gene_variant MELA-AU 11 122522117 122522117 single base substitution G A upstream_gene_variant MELA-AU 11 122522226 122522226 single base substitution C T upstream_gene_variant MELA-AU 11 122522273 122522273 single base substitution C T upstream_gene_variant MELA-AU 11 122522459 122522459 deletion of <=200bp T - upstream_gene_variant MELA-AU 11 122522542 122522542 single base substitution G A upstream_gene_variant MELA-AU 11 122522644 122522644 single base substitution G A upstream_gene_variant MELA-AU 11 122522816 122522816 single base substitution T C upstream_gene_variant MELA-AU 11 122523126 122523126 single base substitution C T upstream_gene_variant MELA-AU 11 122524734 122524734 single base substitution C T upstream_gene_variant MELA-AU 11 122524979 122524979 single base substitution C T upstream_gene_variant MELA-AU 11 122525323 122525323 single base substitution T C upstream_gene_variant MELA-AU 11 122525497 122525497 single base substitution G A upstream_gene_variant MELA-AU 11 122525527 122525527 single base substitution C T upstream_gene_variant MELA-AU 11 122526317 122526317 single base substitution G A upstream_gene_variant MELA-AU 11 122527484 122527484 single base substitution C T intron_variant MELA-AU 11 122528072 122528072 single base substitution C T intron_variant MELA-AU 11 122528200 122528200 single base substitution T C intron_variant MELA-AU 11 122529065 122529065 single base substitution T C intron_variant MELA-AU 11 122529941 122529941 single base substitution G A intron_variant MELA-AU 11 122530180 122530181 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122530718 122530718 single base substitution C G intron_variant MELA-AU 11 122531230 122531230 single base substitution G A intron_variant MELA-AU 11 122531526 122531526 single base substitution T A intron_variant MELA-AU 11 122532053 122532053 single base substitution G A intron_variant MELA-AU 11 122533943 122533943 single base substitution C T intron_variant MELA-AU 11 122535189 122535189 single base substitution G A intron_variant MELA-AU 11 122535382 122535382 single base substitution G A intron_variant MELA-AU 11 122536840 122536840 single base substitution A T intron_variant MELA-AU 11 122537138 122537138 single base substitution T A intron_variant MELA-AU 11 122537249 122537250 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122537450 122537450 single base substitution C T intron_variant MELA-AU 11 122537479 122537479 single base substitution C T intron_variant MELA-AU 11 122538700 122538700 single base substitution T C intron_variant MELA-AU 11 122539372 122539372 single base substitution C T intron_variant MELA-AU 11 122539708 122539708 single base substitution C T intron_variant MELA-AU 11 122540003 122540003 single base substitution C T intron_variant MELA-AU 11 122540100 122540100 single base substitution C T intron_variant MELA-AU 11 122540436 122540436 single base substitution A G intron_variant MELA-AU 11 122541177 122541177 single base substitution C T intron_variant MELA-AU 11 122541729 122541729 single base substitution C T intron_variant MELA-AU 11 122541908 122541908 single base substitution G A intron_variant MELA-AU 11 122542110 122542110 single base substitution C T intron_variant MELA-AU 11 122543555 122543555 single base substitution C T intron_variant MELA-AU 11 122544942 122544942 single base substitution C T intron_variant MELA-AU 11 122545187 122545187 single base substitution C T intron_variant MELA-AU 11 122545467 122545467 single base substitution C T intron_variant MELA-AU 11 122545689 122545689 single base substitution C T intron_variant MELA-AU 11 122546000 122546000 single base substitution C T intron_variant MELA-AU 11 122546639 122546639 single base substitution C T intron_variant MELA-AU 11 122546778 122546778 single base substitution C A intron_variant MELA-AU 11 122547787 122547787 single base substitution G A intron_variant MELA-AU 11 122547921 122547921 deletion of <=200bp T - intron_variant MELA-AU 11 122548088 122548088 single base substitution T C intron_variant MELA-AU 11 122548251 122548251 single base substitution C A intron_variant MELA-AU 11 122548303 122548304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122548570 122548570 single base substitution C T intron_variant MELA-AU 11 122548846 122548846 single base substitution C T intron_variant MELA-AU 11 122549056 122549056 single base substitution A C intron_variant MELA-AU 11 122549287 122549287 single base substitution C T intron_variant MELA-AU 11 122549372 122549372 single base substitution C T intron_variant MELA-AU 11 122549802 122549802 single base substitution C A intron_variant MELA-AU 11 122550006 122550006 single base substitution G A intron_variant MELA-AU 11 122550374 122550374 single base substitution T C intron_variant MELA-AU 11 122550484 122550484 single base substitution C T intron_variant MELA-AU 11 122550781 122550781 single base substitution C T intron_variant MELA-AU 11 122551779 122551779 single base substitution C T intron_variant MELA-AU 11 122552094 122552094 single base substitution G A intron_variant MELA-AU 11 122552325 122552325 single base substitution C T intron_variant MELA-AU 11 122552451 122552452 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122552637 122552637 single base substitution A G intron_variant MELA-AU 11 122552663 122552663 single base substitution A G intron_variant MELA-AU 11 122553300 122553300 single base substitution G A intron_variant MELA-AU 11 122553905 122553905 single base substitution C T intron_variant MELA-AU 11 122554148 122554148 single base substitution C T intron_variant MELA-AU 11 122555191 122555191 single base substitution C T intron_variant MELA-AU 11 122555397 122555397 single base substitution C T intron_variant MELA-AU 11 122555504 122555504 single base substitution C T intron_variant MELA-AU 11 122555526 122555526 single base substitution G A intron_variant MELA-AU 11 122555681 122555681 single base substitution C T intron_variant MELA-AU 11 122555710 122555710 single base substitution C T intron_variant MELA-AU 11 122555969 122555969 single base substitution G A intron_variant MELA-AU 11 122556550 122556550 single base substitution C T intron_variant MELA-AU 11 122556691 122556691 single base substitution G A intron_variant MELA-AU 11 122556766 122556766 single base substitution C T intron_variant MELA-AU 11 122557318 122557318 single base substitution G T intron_variant MELA-AU 11 122557457 122557457 single base substitution C T intron_variant MELA-AU 11 122558195 122558195 single base substitution A G intron_variant MELA-AU 11 122558422 122558422 single base substitution C T intron_variant MELA-AU 11 122558832 122558832 single base substitution G A intron_variant MELA-AU 11 122558914 122558914 single base substitution G A intron_variant MELA-AU 11 122559239 122559239 single base substitution C T intron_variant MELA-AU 11 122559314 122559314 single base substitution C G intron_variant MELA-AU 11 122559330 122559330 insertion of <=200bp - TTTAT intron_variant MELA-AU 11 122559334 122559343 deletion of <=200bp TTTTATTTTA - intron_variant MELA-AU 11 122559376 122559376 single base substitution G A intron_variant MELA-AU 11 122560223 122560223 single base substitution C T intron_variant MELA-AU 11 122561417 122561417 single base substitution C T intron_variant MELA-AU 11 122561514 122561514 single base substitution G A intron_variant MELA-AU 11 122561521 122561521 single base substitution C T intron_variant MELA-AU 11 122564408 122564408 single base substitution C T intron_variant MELA-AU 11 122564463 122564463 single base substitution C T intron_variant MELA-AU 11 122564807 122564807 single base substitution G A intron_variant MELA-AU 11 122565702 122565702 single base substitution C T intron_variant MELA-AU 11 122566550 122566550 single base substitution C T intron_variant MELA-AU 11 122566791 122566791 single base substitution G T intron_variant MELA-AU 11 122567217 122567217 single base substitution C T intron_variant MELA-AU 11 122567545 122567545 single base substitution C T intron_variant MELA-AU 11 122567545 122567546 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122568623 122568623 single base substitution C T intron_variant MELA-AU 11 122568912 122568912 single base substitution C T intron_variant MELA-AU 11 122569072 122569072 single base substitution C T intron_variant MELA-AU 11 122569394 122569394 single base substitution C T intron_variant MELA-AU 11 122569411 122569411 single base substitution C A intron_variant MELA-AU 11 122569492 122569493 multiple base substitution (>=2bp and <=200bp) AA TG intron_variant MELA-AU 11 122569541 122569541 single base substitution G A intron_variant MELA-AU 11 122569667 122569667 single base substitution C T intron_variant MELA-AU 11 122570860 122570860 single base substitution G A intron_variant MELA-AU 11 122571245 122571246 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122571296 122571296 single base substitution C T intron_variant MELA-AU 11 122571327 122571327 single base substitution C T intron_variant MELA-AU 11 122571328 122571328 single base substitution C T intron_variant MELA-AU 11 122571451 122571451 single base substitution C T intron_variant MELA-AU 11 122571706 122571706 single base substitution C T intron_variant MELA-AU 11 122571909 122571909 single base substitution G A intron_variant MELA-AU 11 122572532 122572532 single base substitution C T intron_variant MELA-AU 11 122572749 122572749 single base substitution C T intron_variant MELA-AU 11 122572752 122572752 single base substitution C T intron_variant MELA-AU 11 122573018 122573018 single base substitution G A intron_variant MELA-AU 11 122573458 122573458 single base substitution C T intron_variant MELA-AU 11 122573734 122573734 single base substitution C T intron_variant MELA-AU 11 122574217 122574217 single base substitution C T intron_variant MELA-AU 11 122574886 122574886 single base substitution C T intron_variant MELA-AU 11 122575309 122575309 single base substitution C T intron_variant MELA-AU 11 122575309 122575309 single base substitution C T upstream_gene_variant MELA-AU 11 122575438 122575438 single base substitution G A intron_variant MELA-AU 11 122575438 122575438 single base substitution G A upstream_gene_variant MELA-AU 11 122576354 122576354 single base substitution T C intron_variant MELA-AU 11 122576354 122576354 single base substitution T C upstream_gene_variant MELA-AU 11 122576382 122576382 single base substitution G T intron_variant MELA-AU 11 122576382 122576382 single base substitution G T upstream_gene_variant MELA-AU 11 122576551 122576551 single base substitution C T intron_variant MELA-AU 11 122576551 122576551 single base substitution C T upstream_gene_variant MELA-AU 11 122576778 122576778 single base substitution C T intron_variant MELA-AU 11 122576778 122576778 single base substitution C T upstream_gene_variant MELA-AU 11 122576913 122576913 single base substitution C T intron_variant MELA-AU 11 122576913 122576913 single base substitution C T upstream_gene_variant MELA-AU 11 122576947 122576947 single base substitution C T intron_variant MELA-AU 11 122576947 122576947 single base substitution C T upstream_gene_variant MELA-AU 11 122577259 122577259 single base substitution G A intron_variant MELA-AU 11 122577259 122577259 single base substitution G A upstream_gene_variant MELA-AU 11 122577626 122577626 single base substitution C T intron_variant MELA-AU 11 122577626 122577626 single base substitution C T upstream_gene_variant MELA-AU 11 122577695 122577695 single base substitution C T intron_variant MELA-AU 11 122577695 122577695 single base substitution C T upstream_gene_variant MELA-AU 11 122578816 122578817 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 11 122578816 122578817 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 11 122579542 122579542 single base substitution C T intron_variant MELA-AU 11 122579542 122579542 single base substitution C T upstream_gene_variant MELA-AU 11 122580843 122580843 single base substitution G A intron_variant MELA-AU 11 122581050 122581050 single base substitution T C intron_variant MELA-AU 11 122581480 122581480 single base substitution C T intron_variant MELA-AU 11 122581731 122581731 single base substitution C T intron_variant MELA-AU 11 122583297 122583297 single base substitution G A intron_variant MELA-AU 11 122583451 122583451 single base substitution C T intron_variant MELA-AU 11 122583857 122583857 single base substitution C T intron_variant MELA-AU 11 122583872 122583872 single base substitution C T intron_variant MELA-AU 11 122584513 122584513 single base substitution C T intron_variant MELA-AU 11 122584642 122584647 deletion of <=200bp ATAACT - intron_variant MELA-AU 11 122584824 122584824 single base substitution C T intron_variant MELA-AU 11 122585074 122585074 single base substitution C T intron_variant MELA-AU 11 122585123 122585123 single base substitution C T intron_variant MELA-AU 11 122585146 122585146 single base substitution G A intron_variant MELA-AU 11 122585344 122585344 single base substitution G C intron_variant MELA-AU 11 122586243 122586243 single base substitution C T intron_variant MELA-AU 11 122586908 122586908 single base substitution C A intron_variant MELA-AU 11 122587371 122587371 single base substitution C T intron_variant MELA-AU 11 122587998 122587998 single base substitution C T intron_variant MELA-AU 11 122588138 122588138 single base substitution G A intron_variant MELA-AU 11 122588559 122588559 single base substitution C T intron_variant MELA-AU 11 122588800 122588800 single base substitution T A intron_variant MELA-AU 11 122588974 122588974 single base substitution C T intron_variant MELA-AU 11 122589221 122589221 single base substitution G A intron_variant MELA-AU 11 122589485 122589485 single base substitution T G intron_variant MELA-AU 11 122590610 122590610 single base substitution C T intron_variant MELA-AU 11 122590697 122590697 single base substitution C T intron_variant MELA-AU 11 122591117 122591117 single base substitution C T intron_variant MELA-AU 11 122593310 122593310 single base substitution C T intron_variant MELA-AU 11 122593508 122593508 single base substitution G A intron_variant MELA-AU 11 122593708 122593708 single base substitution C T intron_variant MELA-AU 11 122594115 122594115 single base substitution C T intron_variant MELA-AU 11 122594234 122594234 single base substitution C T intron_variant MELA-AU 11 122594941 122594941 single base substitution G T intron_variant MELA-AU 11 122595227 122595228 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 11 122595871 122595871 single base substitution T C intron_variant MELA-AU 11 122595974 122595975 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 122596870 122596870 single base substitution A C intron_variant MELA-AU 11 122596953 122596953 single base substitution C T intron_variant MELA-AU 11 122597034 122597034 single base substitution T C intron_variant MELA-AU 11 122597084 122597084 single base substitution T C intron_variant MELA-AU 11 122597489 122597489 single base substitution C T intron_variant MELA-AU 11 122597708 122597708 single base substitution C T intron_variant MELA-AU 11 122598572 122598572 single base substitution G A downstream_gene_variant MELA-AU 11 122598572 122598572 single base substitution G A intron_variant MELA-AU 11 122599592 122599592 single base substitution G A downstream_gene_variant MELA-AU 11 122599592 122599592 single base substitution G A intron_variant MELA-AU 11 122599603 122599603 single base substitution C T downstream_gene_variant MELA-AU 11 122599603 122599603 single base substitution C T intron_variant MELA-AU 11 122599607 122599607 single base substitution C T downstream_gene_variant MELA-AU 11 122599607 122599607 single base substitution C T intron_variant MELA-AU 11 122599932 122599932 single base substitution C T downstream_gene_variant MELA-AU 11 122599932 122599932 single base substitution C T intron_variant MELA-AU 11 122600109 122600109 single base substitution C T downstream_gene_variant MELA-AU 11 122600109 122600109 single base substitution C T intron_variant MELA-AU 11 122600766 122600766 single base substitution G A downstream_gene_variant MELA-AU 11 122600766 122600766 single base substitution G A intron_variant MELA-AU 11 122601464 122601464 single base substitution C A downstream_gene_variant MELA-AU 11 122601464 122601464 single base substitution C A intron_variant MELA-AU 11 122601552 122601552 single base substitution C T downstream_gene_variant MELA-AU 11 122601552 122601552 single base substitution C T intron_variant MELA-AU 11 122603321 122603321 single base substitution T C intron_variant MELA-AU 11 122603511 122603511 single base substitution C T intron_variant MELA-AU 11 122603616 122603616 single base substitution C T intron_variant MELA-AU 11 122604005 122604005 single base substitution C T intron_variant MELA-AU 11 122604801 122604801 single base substitution G A intron_variant MELA-AU 11 122605413 122605413 single base substitution C T intron_variant MELA-AU 11 122605725 122605725 single base substitution C T intron_variant MELA-AU 11 122606106 122606106 single base substitution C T intron_variant MELA-AU 11 122606640 122606640 single base substitution C T intron_variant MELA-AU 11 122606905 122606905 single base substitution G A intron_variant MELA-AU 11 122607493 122607493 single base substitution C T intron_variant MELA-AU 11 122608329 122608329 single base substitution T C intron_variant MELA-AU 11 122608553 122608553 single base substitution C T intron_variant MELA-AU 11 122610064 122610064 single base substitution C T intron_variant MELA-AU 11 122610785 122610785 single base substitution C T intron_variant MELA-AU 11 122610946 122610946 single base substitution C T intron_variant MELA-AU 11 122610984 122610984 single base substitution A T intron_variant MELA-AU 11 122611066 122611066 single base substitution C A intron_variant MELA-AU 11 122611305 122611305 single base substitution T C intron_variant MELA-AU 11 122611555 122611555 single base substitution C T intron_variant MELA-AU 11 122611782 122611782 single base substitution C T intron_variant MELA-AU 11 122611826 122611826 single base substitution T A intron_variant MELA-AU 11 122612269 122612269 single base substitution C T intron_variant MELA-AU 11 122612620 122612620 single base substitution C T intron_variant MELA-AU 11 122612771 122612771 single base substitution G C intron_variant MELA-AU 11 122613713 122613714 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122613714 122613714 single base substitution C T intron_variant MELA-AU 11 122613730 122613730 single base substitution C T intron_variant MELA-AU 11 122613760 122613760 single base substitution A G intron_variant MELA-AU 11 122613771 122613771 single base substitution C T intron_variant MELA-AU 11 122613843 122613843 single base substitution T G intron_variant MELA-AU 11 122614210 122614210 single base substitution C T intron_variant MELA-AU 11 122615608 122615608 single base substitution C T intron_variant MELA-AU 11 122615649 122615649 single base substitution C T intron_variant MELA-AU 11 122616653 122616653 single base substitution C T intron_variant MELA-AU 11 122617212 122617212 single base substitution C T intron_variant MELA-AU 11 122617586 122617586 single base substitution G A intron_variant MELA-AU 11 122617780 122617780 single base substitution G A intron_variant MELA-AU 11 122618291 122618291 single base substitution G A intron_variant MELA-AU 11 122618769 122618769 single base substitution C T intron_variant MELA-AU 11 122619151 122619151 single base substitution C T intron_variant MELA-AU 11 122621251 122621251 single base substitution C T intron_variant MELA-AU 11 122621616 122621616 single base substitution C T intron_variant MELA-AU 11 122621988 122621988 single base substitution C T intron_variant MELA-AU 11 122622464 122622464 single base substitution T A intron_variant MELA-AU 11 122623027 122623027 single base substitution G A intron_variant MELA-AU 11 122623051 122623055 deletion of <=200bp ATGTT - intron_variant MELA-AU 11 122624108 122624108 single base substitution G A intron_variant MELA-AU 11 122624308 122624308 single base substitution G A intron_variant MELA-AU 11 122624461 122624461 single base substitution C T intron_variant MELA-AU 11 122625236 122625236 single base substitution G A intron_variant MELA-AU 11 122625437 122625437 single base substitution C T intron_variant MELA-AU 11 122625506 122625506 single base substitution G A intron_variant MELA-AU 11 122625793 122625793 single base substitution T C intron_variant MELA-AU 11 122626486 122626486 single base substitution G T intron_variant MELA-AU 11 122626507 122626507 single base substitution A T intron_variant MELA-AU 11 122626791 122626792 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 11 122627185 122627185 single base substitution C T intron_variant MELA-AU 11 122627354 122627354 single base substitution G A intron_variant MELA-AU 11 122627675 122627675 single base substitution C T intron_variant MELA-AU 11 122628395 122628395 single base substitution G A intron_variant MELA-AU 11 122628453 122628453 single base substitution C T intron_variant MELA-AU 11 122628490 122628490 single base substitution C T intron_variant MELA-AU 11 122628491 122628491 single base substitution G A intron_variant MELA-AU 11 122628512 122628512 single base substitution C A intron_variant MELA-AU 11 122628825 122628825 single base substitution C T intron_variant MELA-AU 11 122629234 122629234 single base substitution G A intron_variant MELA-AU 11 122629300 122629300 single base substitution C T intron_variant MELA-AU 11 122630380 122630380 single base substitution C T intron_variant MELA-AU 11 122630610 122630610 single base substitution C T intron_variant MELA-AU 11 122631192 122631192 single base substitution C T intron_variant MELA-AU 11 122631671 122631671 single base substitution C T intron_variant MELA-AU 11 122631863 122631863 single base substitution G A intron_variant MELA-AU 11 122631916 122631916 single base substitution C T intron_variant MELA-AU 11 122631950 122631950 single base substitution C T intron_variant MELA-AU 11 122632712 122632712 single base substitution C T intron_variant MELA-AU 11 122633410 122633410 single base substitution C T intron_variant MELA-AU 11 122633789 122633789 single base substitution C T intron_variant MELA-AU 11 122633838 122633838 single base substitution C A intron_variant MELA-AU 11 122634168 122634168 single base substitution G A intron_variant MELA-AU 11 122634170 122634170 single base substitution T A intron_variant MELA-AU 11 122634178 122634178 single base substitution A G intron_variant MELA-AU 11 122635012 122635012 single base substitution T G intron_variant MELA-AU 11 122635037 122635037 single base substitution C T intron_variant MELA-AU 11 122635532 122635532 single base substitution C T intron_variant MELA-AU 11 122635761 122635761 single base substitution T C intron_variant MELA-AU 11 122636112 122636112 single base substitution C T intron_variant MELA-AU 11 122636664 122636664 single base substitution C T intron_variant MELA-AU 11 122636772 122636772 single base substitution G A intron_variant MELA-AU 11 122636942 122636942 single base substitution G T intron_variant MELA-AU 11 122637207 122637207 single base substitution C T intron_variant MELA-AU 11 122637419 122637419 single base substitution C T intron_variant MELA-AU 11 122637811 122637811 single base substitution C T intron_variant MELA-AU 11 122638314 122638314 single base substitution C T intron_variant MELA-AU 11 122638850 122638850 single base substitution C T intron_variant MELA-AU 11 122639282 122639282 single base substitution C T intron_variant MELA-AU 11 122639336 122639336 single base substitution C T intron_variant MELA-AU 11 122640691 122640691 single base substitution C T intron_variant MELA-AU 11 122640691 122640691 single base substitution C T upstream_gene_variant MELA-AU 11 122640866 122640866 single base substitution C A intron_variant MELA-AU 11 122640866 122640866 single base substitution C A upstream_gene_variant MELA-AU 11 122641085 122641085 single base substitution C T intron_variant MELA-AU 11 122641085 122641085 single base substitution C T upstream_gene_variant MELA-AU 11 122641132 122641132 single base substitution G A intron_variant MELA-AU 11 122641132 122641132 single base substitution G A upstream_gene_variant MELA-AU 11 122641143 122641143 single base substitution C T intron_variant MELA-AU 11 122641143 122641143 single base substitution C T upstream_gene_variant MELA-AU 11 122641821 122641821 single base substitution G A intron_variant MELA-AU 11 122641821 122641821 single base substitution G A upstream_gene_variant MELA-AU 11 122642551 122642552 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 122642551 122642552 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 122643472 122643472 single base substitution G A intron_variant MELA-AU 11 122643472 122643472 single base substitution G A upstream_gene_variant MELA-AU 11 122643526 122643526 single base substitution C T intron_variant MELA-AU 11 122643526 122643526 single base substitution C T upstream_gene_variant MELA-AU 11 122643691 122643691 single base substitution C T intron_variant MELA-AU 11 122643691 122643691 single base substitution C T upstream_gene_variant MELA-AU 11 122644584 122644584 single base substitution A C intron_variant MELA-AU 11 122644584 122644584 single base substitution A C upstream_gene_variant MELA-AU 11 122645436 122645436 single base substitution T G intron_variant MELA-AU 11 122645436 122645436 single base substitution T G upstream_gene_variant MELA-AU 11 122645628 122645628 single base substitution C T intron_variant MELA-AU 11 122645628 122645628 single base substitution C T upstream_gene_variant MELA-AU 11 122646019 122646019 single base substitution C T intron_variant MELA-AU 11 122646019 122646019 single base substitution C T upstream_gene_variant MELA-AU 11 122646181 122646181 single base substitution C T intron_variant MELA-AU 11 122646181 122646181 single base substitution C T upstream_gene_variant MELA-AU 11 122647063 122647063 single base substitution C T intron_variant MELA-AU 11 122647063 122647063 single base substitution C T upstream_gene_variant MELA-AU 11 122647075 122647075 single base substitution C T intron_variant MELA-AU 11 122647075 122647075 single base substitution C T upstream_gene_variant MELA-AU 11 122647153 122647153 single base substitution G A intron_variant MELA-AU 11 122647153 122647153 single base substitution G A upstream_gene_variant MELA-AU 11 122647363 122647363 single base substitution C T intron_variant MELA-AU 11 122647363 122647363 single base substitution C T upstream_gene_variant MELA-AU 11 122647740 122647740 single base substitution C T exon_variant MELA-AU 11 122647740 122647740 single base substitution C T missense_variant S75F 224C>T MELA-AU 11 122647740 122647740 single base substitution C T upstream_gene_variant MELA-AU 11 122648250 122648250 single base substitution G A intron_variant MELA-AU 11 122648250 122648250 single base substitution G A upstream_gene_variant MELA-AU 11 122649638 122649638 single base substitution T G intron_variant MELA-AU 11 122649638 122649638 single base substitution T G upstream_gene_variant MELA-AU 11 122650001 122650001 single base substitution C T intron_variant MELA-AU 11 122650001 122650001 single base substitution C T upstream_gene_variant MELA-AU 11 122650020 122650020 single base substitution T C intron_variant MELA-AU 11 122650020 122650020 single base substitution T C upstream_gene_variant MELA-AU 11 122650672 122650672 single base substitution C T downstream_gene_variant MELA-AU 11 122650672 122650672 single base substitution C T intron_variant MELA-AU 11 122650672 122650672 single base substitution C T upstream_gene_variant MELA-AU 11 122650864 122650864 single base substitution C T downstream_gene_variant MELA-AU 11 122650864 122650864 single base substitution C T intron_variant MELA-AU 11 122650864 122650864 single base substitution C T upstream_gene_variant MELA-AU 11 122651399 122651399 single base substitution C T downstream_gene_variant MELA-AU 11 122651399 122651399 single base substitution C T intron_variant MELA-AU 11 122651399 122651399 single base substitution C T upstream_gene_variant MELA-AU 11 122651816 122651816 single base substitution G A downstream_gene_variant MELA-AU 11 122651816 122651816 single base substitution G A intron_variant MELA-AU 11 122651816 122651816 single base substitution G A upstream_gene_variant MELA-AU 11 122652932 122652932 single base substitution G A downstream_gene_variant MELA-AU 11 122652932 122652932 single base substitution G A intron_variant MELA-AU 11 122652932 122652932 single base substitution G A upstream_gene_variant MELA-AU 11 122652994 122652995 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 122652994 122652995 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 122652994 122652995 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 122653750 122653750 single base substitution C T downstream_gene_variant MELA-AU 11 122653750 122653750 single base substitution C T exon_variant MELA-AU 11 122653750 122653750 single base substitution C T intron_variant MELA-AU 11 122654141 122654141 single base substitution C T downstream_gene_variant MELA-AU 11 122654141 122654141 single base substitution C T intron_variant MELA-AU 11 122654546 122654546 single base substitution C T downstream_gene_variant MELA-AU 11 122654546 122654546 single base substitution C T intron_variant MELA-AU 11 122654682 122654682 single base substitution C T downstream_gene_variant MELA-AU 11 122654682 122654682 single base substitution C T intron_variant MELA-AU 11 122654737 122654738 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 11 122654737 122654738 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 11 122655947 122655947 single base substitution C T intron_variant MELA-AU 11 122657124 122657124 single base substitution G A intron_variant MELA-AU 11 122657156 122657156 single base substitution G A intron_variant MELA-AU 11 122657279 122657279 single base substitution C T intron_variant MELA-AU 11 122657338 122657338 single base substitution C G intron_variant MELA-AU 11 122657358 122657358 single base substitution C T intron_variant MELA-AU 11 122657701 122657701 single base substitution C T intron_variant MELA-AU 11 122657766 122657766 single base substitution G A intron_variant MELA-AU 11 122658597 122658597 single base substitution G C intron_variant MELA-AU 11 122658712 122658712 single base substitution C T intron_variant MELA-AU 11 122659329 122659329 single base substitution G A intron_variant MELA-AU 11 122659330 122659330 single base substitution G A intron_variant MELA-AU 11 122659865 122659865 single base substitution C T exon_variant MELA-AU 11 122659865 122659865 single base substitution C T missense_variant P277S 829C>T MELA-AU 11 122660615 122660615 single base substitution C T downstream_gene_variant MELA-AU 11 122660615 122660615 single base substitution C T intron_variant MELA-AU 11 122660615 122660615 single base substitution C T upstream_gene_variant MELA-AU 11 122660647 122660647 single base substitution C T downstream_gene_variant MELA-AU 11 122660647 122660647 single base substitution C T intron_variant MELA-AU 11 122660647 122660647 single base substitution C T upstream_gene_variant MELA-AU 11 122660736 122660736 single base substitution C T downstream_gene_variant MELA-AU 11 122660736 122660736 single base substitution C T intron_variant MELA-AU 11 122660736 122660736 single base substitution C T upstream_gene_variant MELA-AU 11 122660867 122660867 single base substitution T C downstream_gene_variant MELA-AU 11 122660867 122660867 single base substitution T C intron_variant MELA-AU 11 122660867 122660867 single base substitution T C upstream_gene_variant MELA-AU 11 122661403 122661403 single base substitution C T downstream_gene_variant MELA-AU 11 122661403 122661403 single base substitution C T intron_variant MELA-AU 11 122661403 122661403 single base substitution C T upstream_gene_variant MELA-AU 11 122663211 122663211 single base substitution G A downstream_gene_variant MELA-AU 11 122663211 122663211 single base substitution G A intron_variant MELA-AU 11 122663211 122663211 single base substitution G A upstream_gene_variant MELA-AU 11 122663663 122663663 single base substitution C T downstream_gene_variant MELA-AU 11 122663663 122663663 single base substitution C T intron_variant MELA-AU 11 122663663 122663663 single base substitution C T upstream_gene_variant MELA-AU 11 122664044 122664044 single base substitution T C downstream_gene_variant MELA-AU 11 122664044 122664044 single base substitution T C intron_variant MELA-AU 11 122664044 122664044 single base substitution T C upstream_gene_variant MELA-AU 11 122664426 122664426 single base substitution C T downstream_gene_variant MELA-AU 11 122664426 122664426 single base substitution C T intron_variant MELA-AU 11 122664426 122664426 single base substitution C T upstream_gene_variant MELA-AU 11 122664562 122664562 single base substitution G A downstream_gene_variant MELA-AU 11 122664562 122664562 single base substitution G A intron_variant MELA-AU 11 122664562 122664562 single base substitution G A upstream_gene_variant MELA-AU 11 122664725 122664725 single base substitution C T downstream_gene_variant MELA-AU 11 122664725 122664725 single base substitution C T intron_variant MELA-AU 11 122664725 122664725 single base substitution C T upstream_gene_variant MELA-AU 11 122664896 122664896 single base substitution T A downstream_gene_variant MELA-AU 11 122664896 122664896 single base substitution T A intron_variant MELA-AU 11 122664896 122664896 single base substitution T A upstream_gene_variant MELA-AU 11 122665255 122665255 single base substitution C T intron_variant MELA-AU 11 122665255 122665255 single base substitution C T upstream_gene_variant MELA-AU 11 122665352 122665352 single base substitution G A intron_variant MELA-AU 11 122665352 122665352 single base substitution G A upstream_gene_variant MELA-AU 11 122666401 122666401 single base substitution C T downstream_gene_variant MELA-AU 11 122666401 122666401 single base substitution C T intron_variant MELA-AU 11 122667225 122667225 single base substitution A G downstream_gene_variant MELA-AU 11 122667225 122667225 single base substitution A G intron_variant MELA-AU 11 122668126 122668126 single base substitution C T downstream_gene_variant MELA-AU 11 122668126 122668126 single base substitution C T intron_variant MELA-AU 11 122668890 122668890 single base substitution T G downstream_gene_variant MELA-AU 11 122668890 122668890 single base substitution T G intron_variant MELA-AU 11 122669245 122669245 single base substitution C T downstream_gene_variant MELA-AU 11 122669245 122669245 single base substitution C T intron_variant MELA-AU 11 122669447 122669447 single base substitution G A downstream_gene_variant MELA-AU 11 122669447 122669447 single base substitution G A intron_variant MELA-AU 11 122669709 122669709 single base substitution C T downstream_gene_variant MELA-AU 11 122669709 122669709 single base substitution C T missense_variant R473C 1417C>T MELA-AU 11 122669827 122669827 single base substitution G A downstream_gene_variant MELA-AU 11 122669827 122669827 single base substitution G A intron_variant MELA-AU 11 122670556 122670556 single base substitution G A downstream_gene_variant MELA-AU 11 122670556 122670556 single base substitution G A intron_variant MELA-AU 11 122670663 122670663 single base substitution C T downstream_gene_variant MELA-AU 11 122670663 122670663 single base substitution C T intron_variant MELA-AU 11 122670995 122670995 single base substitution C T downstream_gene_variant MELA-AU 11 122670995 122670995 single base substitution C T intron_variant MELA-AU 11 122671436 122671436 single base substitution C T downstream_gene_variant MELA-AU 11 122671436 122671436 single base substitution C T intron_variant MELA-AU 11 122671694 122671694 single base substitution G A downstream_gene_variant MELA-AU 11 122671694 122671694 single base substitution G A intron_variant MELA-AU 11 122671924 122671925 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 122671924 122671925 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant IR493IC MELA-AU 11 122672255 122672255 single base substitution C G downstream_gene_variant MELA-AU 11 122672255 122672255 single base substitution C G intron_variant MELA-AU 11 122672858 122672858 single base substitution A T downstream_gene_variant MELA-AU 11 122672858 122672858 single base substitution A T intron_variant MELA-AU 11 122673472 122673472 single base substitution C T intron_variant MELA-AU 11 122673976 122673976 single base substitution C T intron_variant MELA-AU 11 122674260 122674260 single base substitution T C intron_variant MELA-AU 11 122674669 122674669 single base substitution C T intron_variant MELA-AU 11 122674775 122674775 single base substitution C T intron_variant MELA-AU 11 122674891 122674891 single base substitution G A intron_variant MELA-AU 11 122674961 122674961 single base substitution C T intron_variant MELA-AU 11 122675118 122675118 single base substitution C T intron_variant MELA-AU 11 122676209 122676209 single base substitution C T intron_variant MELA-AU 11 122676312 122676312 single base substitution C T intron_variant MELA-AU 11 122676534 122676534 single base substitution T C intron_variant MELA-AU 11 122676544 122676544 single base substitution C T intron_variant MELA-AU 11 122676787 122676787 single base substitution C T intron_variant MELA-AU 11 122677098 122677098 single base substitution T C intron_variant MELA-AU 11 122677510 122677510 single base substitution C T intron_variant MELA-AU 11 122677586 122677586 single base substitution C T intron_variant MELA-AU 11 122679048 122679048 single base substitution G A intron_variant MELA-AU 11 122680097 122680097 single base substitution T C intron_variant MELA-AU 11 122680232 122680232 single base substitution G A intron_variant MELA-AU 11 122680244 122680244 single base substitution G A intron_variant MELA-AU 11 122680479 122680479 single base substitution C T missense_variant S612F 1835C>T MELA-AU 11 122680597 122680597 single base substitution C T 3_prime_UTR_variant MELA-AU 11 122680912 122680912 single base substitution C T 3_prime_UTR_variant MELA-AU 11 122683155 122683155 single base substitution A G 3_prime_UTR_variant MELA-AU 11 122684017 122684017 single base substitution T C 3_prime_UTR_variant MELA-AU 11 122684103 122684103 single base substitution C T 3_prime_UTR_variant MELA-AU 11 122684338 122684338 single base substitution C G 3_prime_UTR_variant MELA-AU 11 122684592 122684592 single base substitution G A 3_prime_UTR_variant MELA-AU 11 122684772 122684772 single base substitution A G 3_prime_UTR_variant MELA-AU 11 122685455 122685455 single base substitution C T downstream_gene_variant MELA-AU 11 122685477 122685477 single base substitution G A downstream_gene_variant MELA-AU 11 122686937 122686937 single base substitution A T downstream_gene_variant MELA-AU 11 122687898 122687898 single base substitution C T downstream_gene_variant MELA-AU 11 122687918 122687918 single base substitution G A downstream_gene_variant MELA-AU 11 122687929 122687929 single base substitution G A downstream_gene_variant MELA-AU 11 122688445 122688445 single base substitution G A downstream_gene_variant MELA-AU 11 122688704 122688704 single base substitution C T downstream_gene_variant MELA-AU 11 122689351 122689351 single base substitution T C downstream_gene_variant MELA-AU 11 122689544 122689545 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 122689548 122689548 single base substitution G A downstream_gene_variant MELA-AU 11 122689984 122689984 single base substitution G A downstream_gene_variant ORCA-IN 11 122540679 122540679 single base substitution G A intron_variant ORCA-IN 11 122570282 122570282 deletion of <=200bp T - intron_variant ORCA-IN 11 122598011 122598011 single base substitution C T intron_variant ORCA-IN 11 122616555 122616555 single base substitution C T intron_variant ORCA-IN 11 122637778 122637778 single base substitution G A intron_variant OV-AU 11 122521696 122521696 single base substitution T A upstream_gene_variant OV-AU 11 122521697 122521697 single base substitution C A upstream_gene_variant OV-AU 11 122523309 122523309 single base substitution C G upstream_gene_variant OV-AU 11 122523444 122523444 single base substitution T A upstream_gene_variant OV-AU 11 122524216 122524216 single base substitution C A upstream_gene_variant OV-AU 11 122532473 122532473 single base substitution C T intron_variant OV-AU 11 122534457 122534457 single base substitution C G intron_variant OV-AU 11 122539875 122539875 single base substitution A G intron_variant OV-AU 11 122543313 122543313 single base substitution C T intron_variant OV-AU 11 122544716 122544716 single base substitution C G intron_variant OV-AU 11 122546755 122546755 single base substitution A T intron_variant OV-AU 11 122548417 122548417 single base substitution C T intron_variant OV-AU 11 122549946 122549946 single base substitution A G intron_variant OV-AU 11 122554084 122554084 single base substitution A T intron_variant OV-AU 11 122569234 122569234 single base substitution G T intron_variant OV-AU 11 122570635 122570635 single base substitution C T intron_variant OV-AU 11 122571843 122571843 single base substitution G A intron_variant OV-AU 11 122582286 122582286 single base substitution C G intron_variant OV-AU 11 122583472 122583472 single base substitution T A intron_variant OV-AU 11 122586575 122586575 single base substitution A C intron_variant OV-AU 11 122589413 122589413 single base substitution T A intron_variant OV-AU 11 122590390 122590390 single base substitution C T intron_variant OV-AU 11 122598276 122598276 single base substitution A T exon_variant OV-AU 11 122598276 122598276 single base substitution A T intron_variant OV-AU 11 122604070 122604070 single base substitution G A intron_variant OV-AU 11 122610226 122610226 single base substitution C T intron_variant OV-AU 11 122622621 122622621 single base substitution A T intron_variant OV-AU 11 122627803 122627803 single base substitution A G intron_variant OV-AU 11 122628034 122628034 single base substitution G T intron_variant OV-AU 11 122634981 122634981 single base substitution C G intron_variant OV-AU 11 122642239 122642239 single base substitution G A intron_variant OV-AU 11 122642239 122642239 single base substitution G A upstream_gene_variant OV-AU 11 122650298 122650298 single base substitution C G exon_variant OV-AU 11 122650298 122650298 single base substitution C G missense_variant L166V 496C>G OV-AU 11 122650298 122650298 single base substitution C G upstream_gene_variant OV-AU 11 122655476 122655476 single base substitution A T intron_variant OV-AU 11 122664656 122664656 single base substitution G A downstream_gene_variant OV-AU 11 122664656 122664656 single base substitution G A intron_variant OV-AU 11 122664656 122664656 single base substitution G A upstream_gene_variant OV-AU 11 122672820 122672820 single base substitution C G downstream_gene_variant OV-AU 11 122672820 122672820 single base substitution C G intron_variant OV-AU 11 122681585 122681585 single base substitution G T 3_prime_UTR_variant OV-AU 11 122681948 122681948 single base substitution G C 3_prime_UTR_variant OV-AU 11 122689489 122689489 single base substitution C T downstream_gene_variant PACA-AU 11 122526308 122526315 deletion of <=200bp GCCCGCAC - upstream_gene_variant PACA-AU 11 122526430 122526430 single base substitution A T 5_prime_UTR_variant PACA-AU 11 122526430 122526430 single base substitution A T upstream_gene_variant PACA-AU 11 122531765 122531765 single base substitution A G intron_variant PACA-AU 11 122532193 122532193 single base substitution G A intron_variant PACA-AU 11 122533778 122533778 single base substitution G A intron_variant PACA-AU 11 122536879 122536879 single base substitution C G intron_variant PACA-AU 11 122537061 122537061 single base substitution G T intron_variant PACA-AU 11 122538948 122538948 single base substitution G A intron_variant PACA-AU 11 122541636 122541636 single base substitution A G intron_variant PACA-AU 11 122544172 122544172 single base substitution C T intron_variant PACA-AU 11 122546664 122546664 single base substitution A T intron_variant PACA-AU 11 122549228 122549228 single base substitution G T intron_variant PACA-AU 11 122549672 122549672 single base substitution C T intron_variant PACA-AU 11 122553425 122553425 single base substitution G A intron_variant PACA-AU 11 122557361 122557361 single base substitution G A intron_variant PACA-AU 11 122562745 122562745 single base substitution A G intron_variant PACA-AU 11 122566723 122566723 single base substitution T C intron_variant PACA-AU 11 122569600 122569600 single base substitution C G intron_variant PACA-AU 11 122569778 122569778 single base substitution G A intron_variant PACA-AU 11 122571682 122571682 single base substitution C T intron_variant PACA-AU 11 122574770 122574770 single base substitution G A intron_variant PACA-AU 11 122577012 122577025 deletion of <=200bp GATCTAGGGCTTGG - intron_variant PACA-AU 11 122577012 122577025 deletion of <=200bp GATCTAGGGCTTGG - upstream_gene_variant PACA-AU 11 122577443 122577443 single base substitution T C intron_variant PACA-AU 11 122577443 122577443 single base substitution T C upstream_gene_variant PACA-AU 11 122581949 122581949 single base substitution C T intron_variant PACA-AU 11 122590262 122590262 single base substitution C T intron_variant PACA-AU 11 122596104 122596104 single base substitution G A intron_variant PACA-AU 11 122613656 122613656 single base substitution T G intron_variant PACA-AU 11 122620537 122620537 single base substitution C T intron_variant PACA-AU 11 122624611 122624611 single base substitution A C intron_variant PACA-AU 11 122637451 122637451 single base substitution A G intron_variant PACA-AU 11 122639912 122639912 single base substitution G A intron_variant PACA-AU 11 122639912 122639912 single base substitution G A upstream_gene_variant PACA-AU 11 122640426 122640426 single base substitution C T intron_variant PACA-AU 11 122640426 122640426 single base substitution C T upstream_gene_variant PACA-AU 11 122642324 122642324 deletion of <=200bp C - intron_variant PACA-AU 11 122642324 122642324 deletion of <=200bp C - upstream_gene_variant PACA-AU 11 122642953 122642953 single base substitution G A intron_variant PACA-AU 11 122642953 122642953 single base substitution G A upstream_gene_variant PACA-AU 11 122645567 122645567 single base substitution C T intron_variant PACA-AU 11 122645567 122645567 single base substitution C T upstream_gene_variant PACA-AU 11 122645632 122645632 single base substitution G T intron_variant PACA-AU 11 122645632 122645632 single base substitution G T upstream_gene_variant PACA-AU 11 122645634 122645634 single base substitution G T intron_variant PACA-AU 11 122645634 122645634 single base substitution G T upstream_gene_variant PACA-AU 11 122648681 122648681 single base substitution G A intron_variant PACA-AU 11 122648681 122648681 single base substitution G A upstream_gene_variant PACA-AU 11 122648849 122648852 deletion of <=200bp CAAA - intron_variant PACA-AU 11 122648849 122648852 deletion of <=200bp CAAA - upstream_gene_variant PACA-AU 11 122648854 122648884 deletion of <=200bp AAAGTGGTAGCATTTTAAACCATTTTTATAA - intron_variant PACA-AU 11 122648854 122648884 deletion of <=200bp AAAGTGGTAGCATTTTAAACCATTTTTATAA - upstream_gene_variant PACA-AU 11 122648930 122648930 single base substitution C A intron_variant PACA-AU 11 122648930 122648930 single base substitution C A upstream_gene_variant PACA-AU 11 122651881 122651881 single base substitution A C downstream_gene_variant PACA-AU 11 122651881 122651881 single base substitution A C intron_variant PACA-AU 11 122651881 122651881 single base substitution A C upstream_gene_variant PACA-AU 11 122657565 122657565 single base substitution T C intron_variant PACA-AU 11 122664550 122664550 single base substitution G A downstream_gene_variant PACA-AU 11 122664550 122664550 single base substitution G A intron_variant PACA-AU 11 122664550 122664550 single base substitution G A upstream_gene_variant PACA-AU 11 122666351 122666351 single base substitution G A downstream_gene_variant PACA-AU 11 122666351 122666351 single base substitution G A intron_variant PACA-AU 11 122666725 122666725 single base substitution T C downstream_gene_variant PACA-AU 11 122666725 122666725 single base substitution T C intron_variant PACA-AU 11 122681254 122681254 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 11 122521894 122521894 deletion of <=200bp A - upstream_gene_variant PACA-CA 11 122522523 122522523 single base substitution A G upstream_gene_variant PACA-CA 11 122523241 122523241 single base substitution G A upstream_gene_variant PACA-CA 11 122523606 122523606 single base substitution G A upstream_gene_variant PACA-CA 11 122529507 122529507 single base substitution T C intron_variant PACA-CA 11 122531621 122531621 deletion of <=200bp T - intron_variant PACA-CA 11 122533801 122533801 single base substitution C G intron_variant PACA-CA 11 122535703 122535703 insertion of <=200bp - C intron_variant PACA-CA 11 122537133 122537133 insertion of <=200bp - T intron_variant PACA-CA 11 122538314 122538314 single base substitution G A intron_variant PACA-CA 11 122540909 122540909 single base substitution A G intron_variant PACA-CA 11 122545282 122545282 single base substitution G C intron_variant PACA-CA 11 122546737 122546737 insertion of <=200bp - C intron_variant PACA-CA 11 122552835 122552835 single base substitution T C intron_variant PACA-CA 11 122555737 122555737 single base substitution G A intron_variant PACA-CA 11 122556547 122556547 single base substitution G C intron_variant PACA-CA 11 122559550 122559550 single base substitution C T intron_variant PACA-CA 11 122560689 122560689 single base substitution G A intron_variant PACA-CA 11 122566939 122566939 single base substitution T C intron_variant PACA-CA 11 122567300 122567300 single base substitution C A intron_variant PACA-CA 11 122567705 122567705 single base substitution A G intron_variant PACA-CA 11 122570237 122570237 single base substitution T C intron_variant PACA-CA 11 122573484 122573484 single base substitution C T intron_variant PACA-CA 11 122577132 122577132 single base substitution C T intron_variant PACA-CA 11 122577132 122577132 single base substitution C T upstream_gene_variant PACA-CA 11 122578690 122578690 single base substitution C T intron_variant PACA-CA 11 122578690 122578690 single base substitution C T upstream_gene_variant PACA-CA 11 122585201 122585201 single base substitution A G intron_variant PACA-CA 11 122585288 122585288 single base substitution C T intron_variant PACA-CA 11 122585714 122585714 single base substitution C T intron_variant PACA-CA 11 122589175 122589175 single base substitution C T intron_variant PACA-CA 11 122592632 122592632 single base substitution T C intron_variant PACA-CA 11 122594997 122594997 single base substitution G A intron_variant PACA-CA 11 122597219 122597219 single base substitution G A intron_variant PACA-CA 11 122603928 122603928 single base substitution A G intron_variant PACA-CA 11 122605575 122605575 single base substitution T G intron_variant PACA-CA 11 122609330 122609330 single base substitution C G intron_variant PACA-CA 11 122610347 122610347 single base substitution G C intron_variant PACA-CA 11 122620200 122620200 single base substitution G A intron_variant PACA-CA 11 122624589 122624589 single base substitution C G intron_variant PACA-CA 11 122624903 122624903 single base substitution A G intron_variant PACA-CA 11 122626254 122626254 single base substitution C T intron_variant PACA-CA 11 122627160 122627160 single base substitution C A intron_variant PACA-CA 11 122627629 122627629 single base substitution G A intron_variant PACA-CA 11 122628684 122628684 single base substitution G A intron_variant PACA-CA 11 122629485 122629485 single base substitution C T intron_variant PACA-CA 11 122631315 122631315 single base substitution C A intron_variant PACA-CA 11 122631998 122631998 single base substitution C G intron_variant PACA-CA 11 122634293 122634293 single base substitution T C intron_variant PACA-CA 11 122641152 122641152 single base substitution C T intron_variant PACA-CA 11 122641152 122641152 single base substitution C T upstream_gene_variant PACA-CA 11 122643252 122643252 single base substitution G T intron_variant PACA-CA 11 122643252 122643252 single base substitution G T upstream_gene_variant PACA-CA 11 122647848 122647848 single base substitution C T exon_variant PACA-CA 11 122647848 122647848 single base substitution C T missense_variant S111L 332C>T PACA-CA 11 122647848 122647848 single base substitution C T upstream_gene_variant PACA-CA 11 122653225 122653225 single base substitution A C downstream_gene_variant PACA-CA 11 122653225 122653225 single base substitution A C exon_variant PACA-CA 11 122653225 122653225 single base substitution A C intron_variant PACA-CA 11 122657699 122657699 insertion of <=200bp - C intron_variant PACA-CA 11 122661755 122661755 single base substitution G A downstream_gene_variant PACA-CA 11 122661755 122661755 single base substitution G A intron_variant PACA-CA 11 122661755 122661755 single base substitution G A upstream_gene_variant PACA-CA 11 122663229 122663229 single base substitution G A downstream_gene_variant PACA-CA 11 122663229 122663229 single base substitution G A intron_variant PACA-CA 11 122663229 122663229 single base substitution G A upstream_gene_variant PACA-CA 11 122668108 122668108 single base substitution T G downstream_gene_variant PACA-CA 11 122668108 122668108 single base substitution T G intron_variant PACA-CA 11 122668524 122668524 single base substitution G T downstream_gene_variant PACA-CA 11 122668524 122668524 single base substitution G T intron_variant PACA-CA 11 122672237 122672237 single base substitution G C downstream_gene_variant PACA-CA 11 122672237 122672237 single base substitution G C intron_variant PACA-CA 11 122672618 122672618 single base substitution C T downstream_gene_variant PACA-CA 11 122672618 122672618 single base substitution C T intron_variant PACA-CA 11 122676824 122676824 single base substitution A G intron_variant PACA-CA 11 122677016 122677016 single base substitution C T intron_variant PACA-CA 11 122678879 122678879 single base substitution C T stop_gained R603* 1807C>T PACA-CA 11 122678951 122678951 single base substitution G T intron_variant PACA-CA 11 122680354 122680354 single base substitution A C intron_variant PACA-CA 11 122683983 122683983 single base substitution T C 3_prime_UTR_variant PACA-CA 11 122685339 122685339 single base substitution C T downstream_gene_variant PACA-CA 11 122688300 122688300 single base substitution T C downstream_gene_variant PAEN-AU 11 122530752 122530752 single base substitution G A intron_variant PAEN-AU 11 122535174 122535174 single base substitution T C intron_variant PAEN-AU 11 122551461 122551461 single base substitution G A intron_variant PAEN-AU 11 122580359 122580359 single base substitution A G intron_variant PAEN-AU 11 122611598 122611598 single base substitution C A intron_variant PAEN-AU 11 122629671 122629671 single base substitution G T intron_variant PAEN-AU 11 122650984 122650984 single base substitution C A downstream_gene_variant PAEN-AU 11 122650984 122650984 single base substitution C A intron_variant PAEN-AU 11 122650984 122650984 single base substitution C A upstream_gene_variant PAEN-AU 11 122661482 122661482 single base substitution G A downstream_gene_variant PAEN-AU 11 122661482 122661482 single base substitution G A intron_variant PAEN-AU 11 122661482 122661482 single base substitution G A upstream_gene_variant PAEN-IT 11 122580619 122580619 single base substitution C A intron_variant PAEN-IT 11 122596383 122596383 single base substitution T C intron_variant PAEN-IT 11 122613007 122613007 single base substitution A T intron_variant PAEN-IT 11 122684989 122684989 single base substitution A G 3_prime_UTR_variant PAEN-IT 11 122687399 122687399 single base substitution G T downstream_gene_variant PBCA-DE 11 122549392 122549392 single base substitution G T intron_variant PBCA-DE 11 122550759 122550759 single base substitution G A intron_variant PBCA-DE 11 122552403 122552404 deletion of <=200bp CA - intron_variant PBCA-DE 11 122555866 122555866 single base substitution T C intron_variant PBCA-DE 11 122562740 122562740 insertion of <=200bp - GACCT intron_variant PBCA-DE 11 122563222 122563222 single base substitution A G intron_variant PBCA-DE 11 122567321 122567321 single base substitution A G intron_variant PBCA-DE 11 122575225 122575225 insertion of <=200bp - T intron_variant PBCA-DE 11 122575225 122575225 insertion of <=200bp - T upstream_gene_variant PBCA-DE 11 122575408 122575408 single base substitution G T intron_variant PBCA-DE 11 122575408 122575408 single base substitution G T upstream_gene_variant PBCA-DE 11 122586318 122586318 single base substitution T C intron_variant PBCA-DE 11 122597764 122597764 deletion of <=200bp T - intron_variant PBCA-DE 11 122602705 122602706 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 11 122602705 122602706 deletion of <=200bp AC - intron_variant PBCA-DE 11 122604951 122604951 single base substitution G A intron_variant PBCA-DE 11 122609618 122609618 single base substitution G A intron_variant PBCA-DE 11 122613921 122613922 deletion of <=200bp TC - intron_variant PBCA-DE 11 122615578 122615581 deletion of <=200bp ACTC - intron_variant PBCA-DE 11 122625022 122625022 single base substitution C A intron_variant PBCA-DE 11 122632648 122632649 deletion of <=200bp CA - intron_variant PBCA-DE 11 122636634 122636634 single base substitution A G intron_variant PBCA-DE 11 122639816 122639816 single base substitution G T intron_variant PBCA-DE 11 122639816 122639816 single base substitution G T upstream_gene_variant PBCA-DE 11 122653217 122653217 insertion of <=200bp - C downstream_gene_variant PBCA-DE 11 122653217 122653217 insertion of <=200bp - C exon_variant PBCA-DE 11 122653217 122653217 insertion of <=200bp - C intron_variant PBCA-DE 11 122661352 122661352 single base substitution C T downstream_gene_variant PBCA-DE 11 122661352 122661352 single base substitution C T intron_variant PBCA-DE 11 122661352 122661352 single base substitution C T upstream_gene_variant PBCA-DE 11 122678107 122678107 single base substitution C T intron_variant PBCA-DE 11 122679791 122679791 insertion of <=200bp - T intron_variant PRAD-CA 11 122525635 122525635 single base substitution G C upstream_gene_variant PRAD-CA 11 122559343 122559343 single base substitution A C intron_variant PRAD-CA 11 122570285 122570285 single base substitution T C intron_variant PRAD-CA 11 122570286 122570286 single base substitution C T intron_variant PRAD-CA 11 122615619 122615619 single base substitution G A intron_variant PRAD-CA 11 122622332 122622332 single base substitution G A intron_variant PRAD-CA 11 122642953 122642953 single base substitution G A intron_variant PRAD-CA 11 122642953 122642953 single base substitution G A upstream_gene_variant PRAD-CA 11 122651560 122651560 single base substitution G C downstream_gene_variant PRAD-CA 11 122651560 122651560 single base substitution G C intron_variant PRAD-CA 11 122651560 122651560 single base substitution G C upstream_gene_variant PRAD-CA 11 122663020 122663020 single base substitution C T downstream_gene_variant PRAD-CA 11 122663020 122663020 single base substitution C T intron_variant PRAD-CA 11 122663020 122663020 single base substitution C T upstream_gene_variant PRAD-CA 11 122673874 122673874 single base substitution T C intron_variant PRAD-UK 11 122530244 122530244 single base substitution G A intron_variant PRAD-UK 11 122533323 122533323 single base substitution G C intron_variant PRAD-UK 11 122535830 122535830 single base substitution G A intron_variant PRAD-UK 11 122538868 122538876 deletion of <=200bp GTATTTTTA - intron_variant PRAD-UK 11 122545997 122545997 single base substitution T C intron_variant PRAD-UK 11 122550087 122550087 single base substitution G A intron_variant PRAD-UK 11 122550311 122550311 single base substitution C A intron_variant PRAD-UK 11 122573902 122573902 single base substitution G T intron_variant PRAD-UK 11 122579350 122579350 single base substitution A C intron_variant PRAD-UK 11 122579350 122579350 single base substitution A C upstream_gene_variant PRAD-UK 11 122588636 122588636 single base substitution C G intron_variant PRAD-UK 11 122592839 122592839 single base substitution A G intron_variant PRAD-UK 11 122598588 122598588 single base substitution C T downstream_gene_variant PRAD-UK 11 122598588 122598588 single base substitution C T intron_variant PRAD-UK 11 122608447 122608447 single base substitution G A intron_variant PRAD-UK 11 122611615 122611615 single base substitution C G intron_variant PRAD-UK 11 122611948 122611948 single base substitution C A intron_variant PRAD-UK 11 122617091 122617091 single base substitution C T intron_variant PRAD-UK 11 122619254 122619254 single base substitution G A intron_variant PRAD-UK 11 122626201 122626201 single base substitution G T intron_variant PRAD-UK 11 122643473 122643473 single base substitution G A intron_variant PRAD-UK 11 122643473 122643473 single base substitution G A upstream_gene_variant PRAD-UK 11 122644362 122644362 single base substitution C T intron_variant PRAD-UK 11 122644362 122644362 single base substitution C T upstream_gene_variant PRAD-UK 11 122645235 122645235 single base substitution T G intron_variant PRAD-UK 11 122645235 122645235 single base substitution T G upstream_gene_variant PRAD-UK 11 122662121 122662127 deletion of <=200bp AGCTTTA - downstream_gene_variant PRAD-UK 11 122662121 122662127 deletion of <=200bp AGCTTTA - intron_variant PRAD-UK 11 122662121 122662127 deletion of <=200bp AGCTTTA - upstream_gene_variant PRAD-UK 11 122663959 122663959 single base substitution C T downstream_gene_variant PRAD-UK 11 122663959 122663959 single base substitution C T intron_variant PRAD-UK 11 122663959 122663959 single base substitution C T upstream_gene_variant PRAD-UK 11 122684765 122684765 single base substitution A G 3_prime_UTR_variant PRAD-UK 11 122687909 122687909 single base substitution A G downstream_gene_variant READ-US 11 122678786 122678786 single base substitution C A missense_variant L572M 1714C>A READ-US 11 122678801 122678801 single base substitution G A missense_variant A577T 1729G>A READ-US 11 122680561 122680561 single base substitution C T synonymous_variant G639G 1917C>T RECA-EU 11 122534733 122534733 single base substitution T A intron_variant RECA-EU 11 122535510 122535510 single base substitution C T intron_variant RECA-EU 11 122540158 122540158 single base substitution C A intron_variant RECA-EU 11 122544079 122544079 single base substitution G T intron_variant RECA-EU 11 122544080 122544080 single base substitution G T intron_variant RECA-EU 11 122555747 122555747 single base substitution C A intron_variant RECA-EU 11 122557264 122557264 single base substitution G T intron_variant RECA-EU 11 122564093 122564093 single base substitution G T intron_variant RECA-EU 11 122565092 122565092 single base substitution T C intron_variant RECA-EU 11 122570828 122570828 single base substitution C G intron_variant RECA-EU 11 122580139 122580139 single base substitution C A exon_variant RECA-EU 11 122580139 122580139 single base substitution C A intron_variant RECA-EU 11 122582335 122582335 single base substitution A C intron_variant RECA-EU 11 122596050 122596050 single base substitution A G intron_variant RECA-EU 11 122597637 122597637 single base substitution C T intron_variant RECA-EU 11 122613912 122613912 single base substitution G T intron_variant RECA-EU 11 122615578 122615578 single base substitution A T intron_variant RECA-EU 11 122625255 122625255 single base substitution T C intron_variant RECA-EU 11 122625505 122625505 single base substitution G C intron_variant RECA-EU 11 122628883 122628883 single base substitution C T intron_variant RECA-EU 11 122631364 122631364 single base substitution C T intron_variant RECA-EU 11 122637465 122637465 single base substitution A T intron_variant RECA-EU 11 122642229 122642229 single base substitution G A intron_variant RECA-EU 11 122642229 122642229 single base substitution G A upstream_gene_variant RECA-EU 11 122657858 122657858 single base substitution A C intron_variant RECA-EU 11 122658364 122658364 single base substitution T A intron_variant RECA-EU 11 122661063 122661063 single base substitution T A downstream_gene_variant RECA-EU 11 122661063 122661063 single base substitution T A intron_variant RECA-EU 11 122661063 122661063 single base substitution T A upstream_gene_variant RECA-EU 11 122663375 122663375 single base substitution A C downstream_gene_variant RECA-EU 11 122663375 122663375 single base substitution A C intron_variant RECA-EU 11 122663375 122663375 single base substitution A C upstream_gene_variant RECA-EU 11 122680557 122680557 single base substitution G T missense_variant G638V 1913G>T RECA-EU 11 122685997 122685997 single base substitution T A downstream_gene_variant SKCA-BR 11 122523365 122523365 single base substitution A G upstream_gene_variant SKCA-BR 11 122523369 122523369 single base substitution T G upstream_gene_variant SKCA-BR 11 122526824 122526824 single base substitution A C exon_variant SKCA-BR 11 122526824 122526824 single base substitution A C missense_variant T23P 67A>C SKCA-BR 11 122532621 122532621 insertion of <=200bp - TC intron_variant SKCA-BR 11 122533072 122533072 single base substitution C T intron_variant SKCA-BR 11 122534504 122534504 single base substitution T C intron_variant SKCA-BR 11 122534859 122534859 single base substitution C T intron_variant SKCA-BR 11 122535130 122535130 insertion of <=200bp - GAAGAATGAGAT intron_variant SKCA-BR 11 122536968 122536968 single base substitution C T intron_variant SKCA-BR 11 122539619 122539619 single base substitution C T intron_variant SKCA-BR 11 122539709 122539709 single base substitution C T intron_variant SKCA-BR 11 122540887 122540887 insertion of <=200bp - ATG intron_variant SKCA-BR 11 122540887 122540889 deletion of <=200bp ATG - intron_variant SKCA-BR 11 122547267 122547267 single base substitution A G intron_variant SKCA-BR 11 122548768 122548768 single base substitution G A intron_variant SKCA-BR 11 122549013 122549013 single base substitution C T intron_variant SKCA-BR 11 122551333 122551333 single base substitution G A intron_variant SKCA-BR 11 122554102 122554102 single base substitution C T intron_variant SKCA-BR 11 122554312 122554312 insertion of <=200bp - CA intron_variant SKCA-BR 11 122554486 122554486 single base substitution A T intron_variant SKCA-BR 11 122556898 122556898 single base substitution T C intron_variant SKCA-BR 11 122559156 122559156 insertion of <=200bp - GT intron_variant SKCA-BR 11 122559329 122559329 insertion of <=200bp - CTTTAT intron_variant SKCA-BR 11 122559329 122559329 insertion of <=200bp - CTTTATTTTAT intron_variant SKCA-BR 11 122559333 122559343 deletion of <=200bp CTTTTATTTTA - intron_variant SKCA-BR 11 122559698 122559701 deletion of <=200bp GGGT - intron_variant SKCA-BR 11 122560902 122560902 single base substitution A C intron_variant SKCA-BR 11 122560903 122560903 single base substitution T C intron_variant SKCA-BR 11 122560905 122560905 single base substitution T A intron_variant SKCA-BR 11 122568369 122568369 single base substitution C T intron_variant SKCA-BR 11 122568696 122568696 single base substitution A T intron_variant SKCA-BR 11 122569679 122569679 single base substitution C T intron_variant SKCA-BR 11 122570281 122570282 deletion of <=200bp CT - intron_variant SKCA-BR 11 122570295 122570295 single base substitution C T intron_variant SKCA-BR 11 122570664 122570664 single base substitution C T intron_variant SKCA-BR 11 122572772 122572772 single base substitution C G intron_variant SKCA-BR 11 122574134 122574134 insertion of <=200bp - CA intron_variant SKCA-BR 11 122575673 122575673 single base substitution T C intron_variant SKCA-BR 11 122575673 122575673 single base substitution T C upstream_gene_variant SKCA-BR 11 122576012 122576012 single base substitution G A intron_variant SKCA-BR 11 122576012 122576012 single base substitution G A upstream_gene_variant SKCA-BR 11 122576322 122576322 single base substitution C T intron_variant SKCA-BR 11 122576322 122576322 single base substitution C T upstream_gene_variant SKCA-BR 11 122579119 122579119 single base substitution C T intron_variant SKCA-BR 11 122579119 122579119 single base substitution C T upstream_gene_variant SKCA-BR 11 122579120 122579120 single base substitution C T intron_variant SKCA-BR 11 122579120 122579120 single base substitution C T upstream_gene_variant SKCA-BR 11 122584453 122584455 deletion of <=200bp CAA - intron_variant SKCA-BR 11 122586042 122586042 single base substitution A G intron_variant SKCA-BR 11 122588600 122588600 single base substitution A C intron_variant SKCA-BR 11 122590966 122590966 single base substitution G A intron_variant SKCA-BR 11 122592921 122592921 single base substitution C G intron_variant SKCA-BR 11 122595019 122595019 single base substitution T A intron_variant SKCA-BR 11 122596270 122596270 insertion of <=200bp - AT intron_variant SKCA-BR 11 122597045 122597048 deletion of <=200bp TTTC - intron_variant SKCA-BR 11 122599510 122599510 single base substitution A G downstream_gene_variant SKCA-BR 11 122599510 122599510 single base substitution A G intron_variant SKCA-BR 11 122600645 122600645 single base substitution C T downstream_gene_variant SKCA-BR 11 122600645 122600645 single base substitution C T intron_variant SKCA-BR 11 122600805 122600805 single base substitution C T downstream_gene_variant SKCA-BR 11 122600805 122600805 single base substitution C T intron_variant SKCA-BR 11 122602984 122602984 single base substitution G A downstream_gene_variant SKCA-BR 11 122602984 122602984 single base substitution G A intron_variant SKCA-BR 11 122605217 122605217 single base substitution C T intron_variant SKCA-BR 11 122605600 122605600 single base substitution C T intron_variant SKCA-BR 11 122605727 122605727 single base substitution C T intron_variant SKCA-BR 11 122607006 122607006 single base substitution A G intron_variant SKCA-BR 11 122607537 122607537 single base substitution C T intron_variant SKCA-BR 11 122611508 122611508 single base substitution G A intron_variant SKCA-BR 11 122614801 122614801 single base substitution C T intron_variant SKCA-BR 11 122615610 122615610 single base substitution C T intron_variant SKCA-BR 11 122617411 122617411 single base substitution G A intron_variant SKCA-BR 11 122619625 122619625 single base substitution T C intron_variant SKCA-BR 11 122623725 122623725 single base substitution C T intron_variant SKCA-BR 11 122625203 122625203 single base substitution G T intron_variant SKCA-BR 11 122628984 122628984 single base substitution A T intron_variant SKCA-BR 11 122630211 122630211 single base substitution C G intron_variant SKCA-BR 11 122631274 122631274 single base substitution T C intron_variant SKCA-BR 11 122632487 122632490 deletion of <=200bp CTTT - intron_variant SKCA-BR 11 122634498 122634498 single base substitution C T intron_variant SKCA-BR 11 122637207 122637207 single base substitution C T intron_variant SKCA-BR 11 122638041 122638041 single base substitution G A intron_variant SKCA-BR 11 122639175 122639175 single base substitution T G intron_variant SKCA-BR 11 122640227 122640227 single base substitution G A intron_variant SKCA-BR 11 122640227 122640227 single base substitution G A upstream_gene_variant SKCA-BR 11 122642456 122642462 deletion of <=200bp AACACAC - intron_variant SKCA-BR 11 122642456 122642462 deletion of <=200bp AACACAC - upstream_gene_variant SKCA-BR 11 122643229 122643229 single base substitution G A intron_variant SKCA-BR 11 122643229 122643229 single base substitution G A upstream_gene_variant SKCA-BR 11 122643448 122643448 single base substitution T C intron_variant SKCA-BR 11 122643448 122643448 single base substitution T C upstream_gene_variant SKCA-BR 11 122645351 122645351 single base substitution G A intron_variant SKCA-BR 11 122645351 122645351 single base substitution G A upstream_gene_variant SKCA-BR 11 122648069 122648069 single base substitution G A intron_variant SKCA-BR 11 122648069 122648069 single base substitution G A upstream_gene_variant SKCA-BR 11 122653465 122653465 single base substitution C A downstream_gene_variant SKCA-BR 11 122653465 122653465 single base substitution C A exon_variant SKCA-BR 11 122653465 122653465 single base substitution C A intron_variant SKCA-BR 11 122654380 122654380 insertion of <=200bp - GTGTATC downstream_gene_variant SKCA-BR 11 122654380 122654380 insertion of <=200bp - GTGTATC intron_variant SKCA-BR 11 122665312 122665312 single base substitution G T intron_variant SKCA-BR 11 122665312 122665312 single base substitution G T upstream_gene_variant SKCA-BR 11 122669387 122669387 single base substitution C T downstream_gene_variant SKCA-BR 11 122669387 122669387 single base substitution C T intron_variant SKCA-BR 11 122669780 122669780 single base substitution C T downstream_gene_variant SKCA-BR 11 122669780 122669780 single base substitution C T intron_variant SKCA-BR 11 122671108 122671108 single base substitution A G downstream_gene_variant SKCA-BR 11 122671108 122671108 single base substitution A G intron_variant SKCA-BR 11 122676189 122676189 single base substitution G A intron_variant SKCA-BR 11 122682874 122682874 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 122685489 122685489 single base substitution A C downstream_gene_variant SKCA-BR 11 122687191 122687191 single base substitution T A downstream_gene_variant SKCA-BR 11 122687481 122687481 single base substitution A G downstream_gene_variant SKCA-BR 11 122687570 122687570 single base substitution G A downstream_gene_variant SKCA-BR 11 122688910 122688910 single base substitution G A downstream_gene_variant SKCA-BR 11 122688981 122688981 single base substitution C T downstream_gene_variant SKCA-BR 11 122689470 122689470 single base substitution C T downstream_gene_variant SKCA-BR 11 122689736 122689736 single base substitution A G downstream_gene_variant SKCM-US 11 122646962 122646962 single base substitution T C exon_variant SKCM-US 11 122646962 122646962 single base substitution T C missense_variant V66A 197T>C SKCM-US 11 122646962 122646962 single base substitution T C upstream_gene_variant SKCM-US 11 122647762 122647762 single base substitution G A exon_variant SKCM-US 11 122647762 122647762 single base substitution G A synonymous_variant L82L 246G>A SKCM-US 11 122647762 122647762 single base substitution G A upstream_gene_variant SKCM-US 11 122647763 122647763 single base substitution G A exon_variant SKCM-US 11 122647763 122647763 single base substitution G A missense_variant D83N 247G>A SKCM-US 11 122647763 122647763 single base substitution G A upstream_gene_variant SKCM-US 11 122647802 122647802 single base substitution C T exon_variant SKCM-US 11 122647802 122647802 single base substitution C T missense_variant P96S 286C>T SKCM-US 11 122647802 122647802 single base substitution C T upstream_gene_variant SKCM-US 11 122650289 122650289 single base substitution C T exon_variant SKCM-US 11 122650289 122650289 single base substitution C T missense_variant P163S 487C>T SKCM-US 11 122650289 122650289 single base substitution C T upstream_gene_variant SKCM-US 11 122665459 122665459 single base substitution G A exon_variant SKCM-US 11 122665459 122665459 single base substitution G A missense_variant D344N 1030G>A SKCM-US 11 122665459 122665459 single base substitution G A upstream_gene_variant SKCM-US 11 122666886 122666886 single base substitution C T downstream_gene_variant SKCM-US 11 122666886 122666886 single base substitution C T exon_variant SKCM-US 11 122666886 122666886 single base substitution C T missense_variant P379L 1136C>T SKCM-US 11 122669681 122669681 single base substitution C T downstream_gene_variant SKCM-US 11 122669681 122669681 single base substitution C T synonymous_variant I463I 1389C>T SKCM-US 11 122669690 122669690 single base substitution C T downstream_gene_variant SKCM-US 11 122669690 122669690 single base substitution C T synonymous_variant V466V 1398C>T SKCM-US 11 122669709 122669709 single base substitution C T downstream_gene_variant SKCM-US 11 122669709 122669709 single base substitution C T missense_variant R473C 1417C>T STAD-US 11 122526825 122526825 deletion of <=200bp C - exon_variant STAD-US 11 122526825 122526825 deletion of <=200bp C - frameshift_variant T23 STAD-US 11 122650309 122650309 single base substitution G A downstream_gene_variant STAD-US 11 122650309 122650309 single base substitution G A exon_variant STAD-US 11 122650309 122650309 single base substitution G A synonymous_variant S169S 507G>A STAD-US 11 122650309 122650309 single base substitution G A upstream_gene_variant STAD-US 11 122650347 122650347 single base substitution C T downstream_gene_variant STAD-US 11 122650347 122650347 single base substitution C T exon_variant STAD-US 11 122650347 122650347 single base substitution C T missense_variant A182V 545C>T STAD-US 11 122650347 122650347 single base substitution C T upstream_gene_variant STAD-US 11 122653921 122653921 single base substitution T A downstream_gene_variant STAD-US 11 122653921 122653921 single base substitution T A exon_variant STAD-US 11 122653921 122653921 single base substitution T A synonymous_variant A254A 762T>A STAD-US 11 122659877 122659877 single base substitution A G exon_variant STAD-US 11 122659877 122659877 single base substitution A G missense_variant I281V 841A>G STAD-US 11 122659932 122659932 single base substitution C T exon_variant STAD-US 11 122659932 122659932 single base substitution C T missense_variant T299M 896C>T STAD-US 11 122659945 122659945 single base substitution C T exon_variant STAD-US 11 122659945 122659945 single base substitution C T synonymous_variant T303T 909C>T STAD-US 11 122678801 122678801 single base substitution G A missense_variant A577T 1729G>A STAD-US 11 122678880 122678880 single base substitution G A missense_variant R603Q 1808G>A THCA-US 11 122659906 122659906 single base substitution C T exon_variant THCA-US 11 122659906 122659906 single base substitution C T synonymous_variant S290S 870C>T THCA-US 11 122680513 122680513 single base substitution G A synonymous_variant Q623Q 1869G>A UCEC-US 11 122526785 122526785 single base substitution C T exon_variant UCEC-US 11 122526785 122526785 single base substitution C T missense_variant L10F 28C>T UCEC-US 11 122647894 122647894 single base substitution C T exon_variant UCEC-US 11 122647894 122647894 single base substitution C T synonymous_variant H126H 378C>T UCEC-US 11 122647894 122647894 single base substitution C T upstream_gene_variant UCEC-US 11 122650260 122650260 single base substitution G A exon_variant UCEC-US 11 122650260 122650260 single base substitution G A missense_variant R153H 458G>A UCEC-US 11 122650260 122650260 single base substitution G A upstream_gene_variant UCEC-US 11 122650305 122650305 single base substitution C T downstream_gene_variant UCEC-US 11 122650305 122650305 single base substitution C T exon_variant UCEC-US 11 122650305 122650305 single base substitution C T missense_variant T168M 503C>T UCEC-US 11 122650305 122650305 single base substitution C T upstream_gene_variant UCEC-US 11 122650321 122650321 single base substitution C T downstream_gene_variant UCEC-US 11 122650321 122650321 single base substitution C T exon_variant UCEC-US 11 122650321 122650321 single base substitution C T synonymous_variant I173I 519C>T UCEC-US 11 122650321 122650321 single base substitution C T upstream_gene_variant UCEC-US 11 122650347 122650347 single base substitution C T downstream_gene_variant UCEC-US 11 122650347 122650347 single base substitution C T exon_variant UCEC-US 11 122650347 122650347 single base substitution C T missense_variant A182V 545C>T UCEC-US 11 122650347 122650347 single base substitution C T upstream_gene_variant UCEC-US 11 122653760 122653760 deletion of <=200bp G - downstream_gene_variant UCEC-US 11 122653760 122653760 deletion of <=200bp G - exon_variant UCEC-US 11 122653760 122653760 deletion of <=200bp G - splice_acceptor_variant UCEC-US 11 122653814 122653814 single base substitution T G downstream_gene_variant UCEC-US 11 122653814 122653814 single base substitution T G exon_variant UCEC-US 11 122653814 122653814 single base substitution T G missense_variant F219V 655T>G UCEC-US 11 122653843 122653843 single base substitution G T downstream_gene_variant UCEC-US 11 122653843 122653843 single base substitution G T exon_variant UCEC-US 11 122653843 122653843 single base substitution G T missense_variant E228D 684G>T UCEC-US 11 122653904 122653904 single base substitution C T downstream_gene_variant UCEC-US 11 122653904 122653904 single base substitution C T exon_variant UCEC-US 11 122653904 122653904 single base substitution C T missense_variant R249W 745C>T UCEC-US 11 122667694 122667694 single base substitution A G downstream_gene_variant UCEC-US 11 122667694 122667694 single base substitution A G exon_variant UCEC-US 11 122667694 122667694 single base substitution A G missense_variant K437R 1310A>G UCEC-US 11 122669682 122669682 single base substitution G A downstream_gene_variant UCEC-US 11 122669682 122669682 single base substitution G A missense_variant D464N 1390G>A UCEC-US 11 122677201 122677201 single base substitution T G missense_variant I560R 1679T>G UCEC-US 11 122678800 122678800 single base substitution C T synonymous_variant H576H 1728C>T UCEC-US 11 122680509 122680509 single base substitution G A stop_gained W622* 1865G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LAU149 COSM233698 c.526T>G p.F176V Substitution - Missense 11:122779620-122779620 + TCGA-BJ-A3PT-01 COSM3368258 c.1869G>A p.Q623Q Substitution - coding silent 11:122809805-122809805 + sysucc-1173T COSM5459573 c.1946A>G p.E649G Substitution - Missense 11:122809882-122809882 + TCGA-DY-A1DG-01 COSM1561563 c.1729G>A p.A577T Substitution - Missense 11:122808093-122808093 + TCGA-34-5239-01 COSM686794 c.1450+1G>A p.? Unknown 11:122799035-122799035 + HCT15 COSM1676528 c.986A>G p.Y329C Substitution - Missense 11:122794707-122794707 + TCGA-A8-A0A6-01 COSM3808608 c.676A>C p.T226P Substitution - Missense 11:122783127-122783127 + HDC87 COSM4636816 c.184G>A p.G62R Substitution - Missense 11:122776241-122776241 + Br15X COSM39761 c.1491C>T p.P497P Substitution - coding silent 11:122801228-122801228 + TCGA-EE-A2A2-06 COSM3444443 c.247G>A p.D83N Substitution - Missense 11:122777055-122777055 + 409 COSM4430614 c.1209G>A p.W403* Substitution - Nonsense 11:122796251-122796251 + BN05 COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + TCGA-G3-A25W-01 COSM4927253 c.869G>A p.S290N Substitution - Missense 11:122789197-122789197 + TCGA-AP-A051-01 COSM924093 c.503C>T p.T168M Substitution - Missense 11:122779597-122779597 + TCGA-06-0173-01 COSM2150426 c.639G>A p.V213V Substitution - coding silent 11:122783090-122783090 + 587390 COSM1231534 c.1247G>A p.R416H Substitution - Missense 11:122796923-122796923 + PT35 COSM5913303 c.715G>A p.G239R Substitution - Missense 11:122783166-122783166 + 2492723 COSM5721833 c.1050G>C p.R350R Substitution - coding silent 11:122794771-122794771 + NCI-H716 COSM4646963 c.1099T>A p.C367S Substitution - Missense 11:122794820-122794820 + RK027_C01 COSM1627836 c.232G>A p.G78S Substitution - Missense 11:122777040-122777040 + BCM567T COSM4955455 c.1271G>A p.S424N Substitution - Missense 11:122796947-122796947 + KPOPBR-48-T COSM5170280 c.1151G>A p.R384Q Substitution - Missense 11:122796193-122796193 + I2L-P19Ta-Tumor-Organoid COSM5360574 c.1049G>A p.R350Q Substitution - Missense 11:122794770-122794770 + TCGA-AM-5820-01 COSM3687133 c.1353A>G p.L451L Substitution - coding silent 11:122797029-122797029 + BN05T COSM1604219 c.20C>G p.P7R Substitution - Missense 11:122656069-122656069 + HCT-15 COSM1676528 c.986A>G p.Y329C Substitution - Missense 11:122794707-122794707 + CSCC-41-T COSM4530514 c.1703G>A p.G568E Substitution - Missense 11:122808067-122808067 + TCGA-BS-A0UV-01 COSM924098 c.684G>T p.E228D Substitution - Missense 11:122783135-122783135 + PT33 COSM5909190 c.814G>A p.E272K Substitution - Missense 11:122789142-122789142 + TCGA-66-2734-01 COSM686795 c.612G>T p.V204V Substitution - coding silent 11:122783063-122783063 + DN120A6 COSM5789890 c.409G>T p.D137Y Substitution - Missense 11:122779503-122779503 + T263 COSM4738647 c.620A>G p.H207R Substitution - Missense 11:122783071-122783071 + LP6005690-DNA_A02 COSM4410303 c.1843G>T p.E615* Substitution - Nonsense 11:122809779-122809779 + TCGA-AD-6963-01 COSM1352067 c.1409C>T p.P470L Substitution - Missense 11:122798993-122798993 + 2492720 COSM5721833 c.1050G>C p.R350R Substitution - coding silent 11:122794771-122794771 + CHC1028T COSM4790889 c.1281G>T p.Q427H Substitution - Missense 11:122796957-122796957 + LP6005409-DNA_D02 COSM5034894 c.250G>C p.D84H Substitution - Missense 11:122777058-122777058 + ESO-859 COSM1240596 c.182C>T p.T61M Substitution - Missense 11:122776239-122776239 + BCM567T COSM4955455 c.1271G>A p.S424N Substitution - Missense 11:122796947-122796947 + PD11345a COSM5789890 c.409G>T p.D137Y Substitution - Missense 11:122779503-122779503 + SNUH_G76_S1 COSM4417282 c.202G>T p.A68S Substitution - Missense 11:122776259-122776259 + YUBER COSM1704720 c.1693A>T p.K565* Substitution - Nonsense 11:122806507-122806507 + TCGA-AZ-6601-01 COSM1352051 c.159C>T p.R53R Substitution - coding silent 11:122656208-122656208 + TCGA-F5-6814-01 COSM1973412 c.1714C>A p.L572M Substitution - Missense 11:122808078-122808078 + Pat_24_A COSM5838031 c.797delC p.P267fs*35 Deletion - Frameshift 11:122789125-122789125 + 2492722 COSM5721833 c.1050G>C p.R350R Substitution - coding silent 11:122794771-122794771 + CN-AML-08-T COSM147341 c.882T>G p.G294G Substitution - coding silent 11:122789210-122789210 + CN-AML-08-T COSM3752185 c.1008A>G p.S336S Substitution - coding silent 11:122794729-122794729 + TCGA-AP-A0LM-01 COSM924094 c.519C>T p.I173I Substitution - coding silent 11:122779613-122779613 + TCGA-FU-A3HZ-01 COSM4841204 c.1724C>T p.A575V Substitution - Missense 11:122808088-122808088 + PD4983a COSM5778415 c.1613G>A p.S538N Substitution - Missense 11:122806427-122806427 + TCGA-AP-A056-01 COSM924103 c.1390G>A p.D464N Substitution - Missense 11:122798974-122798974 + T263 COSM4738644 c.164delA p.A57fs*44 Deletion - Frameshift 11:122776221-122776221 + TCGA-BR-4184-01 COSM924095 c.545C>T p.A182V Substitution - Missense 11:122779639-122779639 + CHC1028T COSM4790889 c.1281G>T p.Q427H Substitution - Missense 11:122796957-122796957 + S01297 COSM5667372 c.1684A>T p.S562C Substitution - Missense 11:122806498-122806498 + T3094 COSM4738648 c.1154G>A p.C385Y Substitution - Missense 11:122796196-122796196 + BN05 COSM1604219 c.20C>G p.P7R Substitution - Missense 11:122656069-122656069 + 169 COSM1352068 c.1423G>A p.V475I Substitution - Missense 11:122799007-122799007 + TCGA-BR-7851-01 COSM4018747 c.896C>T p.T299M Substitution - Missense 11:122789224-122789224 + TCGA-66-2787-01 COSM686793 c.1737C>A p.S579S Substitution - coding silent 11:122808101-122808101 + CSCC-27-T COSM4545083 c.36G>A p.M12I Substitution - Missense 11:122656085-122656085 + HCA7 COSM4629701 c.542G>A p.S181N Substitution - Missense 11:122779636-122779636 + TCGA-AG-4005-01 COSM289415 c.1576A>T p.S526C Substitution - Missense 11:122801313-122801313 + CSCC-7-T COSM4494046 c.425C>T p.A142V Substitution - Missense 11:122779519-122779519 + TCGA-BK-A0C9-01 COSM924101 c.1020C>T p.L340L Substitution - coding silent 11:122794741-122794741 + TCGA-D1-A103-01 COSM924097 c.655T>G p.F219V Substitution - Missense 11:122783106-122783106 + ESO-164 COSM1269614 c.1736C>T p.S579F Substitution - Missense 11:122808100-122808100 + SNU-C2B COSM1973399 c.1183A>G p.M395V Substitution - Missense 11:122796225-122796225 + 587316 COSM1231533 c.1790A>G p.D597G Substitution - Missense 11:122808154-122808154 + 2492721 COSM5721833 c.1050G>C p.R350R Substitution - coding silent 11:122794771-122794771 + TCGA-EE-A2MJ-06 COSM3444444 c.286C>T p.P96S Substitution - Missense 11:122777094-122777094 + T3262 COSM4738645 c.200A>G p.Q67R Substitution - Missense 11:122776257-122776257 + cSCCP2 COSM137571 c.1306G>A p.E436K Substitution - Missense 11:122796982-122796982 + CR007 COSM1352070 c.1795G>A p.V599I Substitution - Missense 11:122808159-122808159 + CHC892T COSM4960803 c.479C>T p.A160V Substitution - Missense 11:122779573-122779573 + PD8964a COSM5782214 c.854C>T p.P285L Substitution - Missense 11:122789182-122789182 + PD7249a COSM5795318 c.365A>G p.N122S Substitution - Missense 11:122777173-122777173 + GC8_T COSM147340 c.202G>A p.A68T Substitution - Missense 11:122776259-122776259 + TCGA-66-2793-01 COSM541346 c.675C>A p.P225P Substitution - coding silent 11:122783126-122783126 + LUAD-D01278 COSM362863 c.285T>C p.R95R Substitution - coding silent 11:122777093-122777093 + TCGA-HU-A4GH-01 COSM4018745 c.762T>A p.A254A Substitution - coding silent 11:122783213-122783213 + ESCC_76 COSM5635054 c.406G>A p.E136K Substitution - Missense 11:122779500-122779500 + TCGA-D5-6930-01 COSM1352068 c.1423G>A p.V475I Substitution - Missense 11:122799007-122799007 + NCI-H720 COSM1973396 c.1030G>A p.D344N Substitution - Missense 11:122794751-122794751 + TCGA-42-2589-01 COSM1321840 c.1538C>A p.A513E Substitution - Missense 11:122801275-122801275 + HCC66T COSM1604220 c.692delC p.Q232fs*7 Deletion - Frameshift 11:122783143-122783143 + TCGA-FS-A1ZQ-06 COSM3444442 c.246G>A p.L82L Substitution - coding silent 11:122777054-122777054 + TCGA-EE-A2MS-06 COSM3444448 c.1389C>T p.I463I Substitution - coding silent 11:122798973-122798973 + TCGA-EB-A3Y7-01 COSM3444449 c.1398C>T p.V466V Substitution - coding silent 11:122798982-122798982 + PD4121a COSM165365 c.291C>T p.T97T Substitution - coding silent 11:122777099-122777099 + LP6005409-DNA_D02 COSM5034879 c.263G>A p.R88Q Substitution - Missense 11:122777071-122777071 + HCT8 COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + TCGA-EE-A3J5-06 COSM3444441 c.197T>C p.V66A Substitution - Missense 11:122776254-122776254 + TCGA-B5-A11E-01 COSM924106 c.1865G>A p.W622* Substitution - Nonsense 11:122809801-122809801 + CHC322T COSM3752185 c.1008A>G p.S336S Substitution - coding silent 11:122794729-122794729 + STC291 COSM4018744 c.507G>A p.S169S Substitution - coding silent 11:122779601-122779601 + Pat_41_B COSM5838032 c.1515G>A p.W505* Substitution - Nonsense 11:122801252-122801252 + TCGA-AC-A23H-01 COSM3808610 c.1582G>A p.D528N Substitution - Missense 11:122801319-122801319 + C0020T COSM4165671 c.1913G>T p.G638V Substitution - Missense 11:122809849-122809849 + Pat_41_B COSM5838033 c.1630G>A p.E544K Substitution - Missense 11:122806444-122806444 + TCGA-GV-A3JX-01 COSM1297753 c.1555G>C p.E519Q Substitution - Missense 11:122801292-122801292 + CN-AML-NR-08-Dx COSM147341 c.882T>G p.G294G Substitution - coding silent 11:122789210-122789210 + TCGA-CG-4306-01 COSM1561563 c.1729G>A p.A577T Substitution - Missense 11:122808093-122808093 + TCGA-BH-A0HF-01 COSM3808609 c.920G>A p.G307E Substitution - Missense 11:122789248-122789248 + BD112T COSM1627836 c.232G>A p.G78S Substitution - Missense 11:122777040-122777040 + TCGA-AM-5820-01 COSM147340 c.202G>A p.A68T Substitution - Missense 11:122776259-122776259 + T3503 COSM924093 c.503C>T p.T168M Substitution - Missense 11:122779597-122779597 + BN05T COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + TCGA-EE-A181-06 COSM1973396 c.1030G>A p.D344N Substitution - Missense 11:122794751-122794751 + TCGA-D1-A16D-01 COSM924102 c.1310A>G p.K437R Substitution - Missense 11:122796986-122796986 + TCGA-CG-5728-01 COSM4018746 c.841A>G p.I281V Substitution - Missense 11:122789169-122789169 + 526LT COSM147340 c.202G>A p.A68T Substitution - Missense 11:122776259-122776259 + T2938 COSM4738649 c.1297C>T p.R433* Substitution - Nonsense 11:122796973-122796973 + TCGA-FP-A4BE-01 COSM4018749 c.1808G>A p.R603Q Substitution - Missense 11:122808172-122808172 + TCGA-DK-A3IU-01 COSM3791276 c.276C>T p.L92L Substitution - coding silent 11:122777084-122777084 + GC8_T COSM147341 c.882T>G p.G294G Substitution - coding silent 11:122789210-122789210 + TCGA-G9-6342-01 COSM3670693 c.262C>A p.R88R Substitution - coding silent 11:122777070-122777070 + TCGA-BP-4170-01 COSM3359055 c.1046G>A p.R349K Substitution - Missense 11:122794767-122794767 + TCGA-AP-A059-01 COSM924095 c.545C>T p.A182V Substitution - Missense 11:122779639-122779639 + PCSI_0463_Pa_P_526 COSM1973415 c.1807C>T p.R603* Substitution - Nonsense 11:122808171-122808171 + TCGA-D1-A17Q-01 COSM924100 c.745C>T p.R249W Substitution - Missense 11:122783196-122783196 + TCGA-D1-A103-01 COSM924091 c.378C>T p.H126H Substitution - coding silent 11:122777186-122777186 + EGC15 COSM5050613 c.231C>T p.V77V Substitution - coding silent 11:122777039-122777039 + TCGA-85-6561-01 COSM686797 c.199C>A p.Q67K Substitution - Missense 11:122776256-122776256 + MSK-PCa4_organoid COSM5423739 c.899C>A p.S300Y Substitution - Missense 11:122789227-122789227 + T578 COSM4738646 c.474C>A p.F158L Substitution - Missense 11:122779568-122779568 + T578 COSM924103 c.1390G>A p.D464N Substitution - Missense 11:122798974-122798974 + TCGA-CM-6674-01 COSM924105 c.1728C>T p.H576H Substitution - coding silent 11:122808092-122808092 + CHC892T COSM4960803 c.479C>T p.A160V Substitution - Missense 11:122779573-122779573 + U251 COSM1676529 c.1937T>G p.L646W Substitution - Missense 11:122809873-122809873 + PT23_1 COSM4018749 c.1808G>A p.R603Q Substitution - Missense 11:122808172-122808172 + TCGA-HU-A4G8-01 COSM4018744 c.507G>A p.S169S Substitution - coding silent 11:122779601-122779601 + TCGA-BG-A0M6-01 COSM924099 c.723C>G p.D241E Substitution - Missense 11:122783174-122783174 + TCGA-BR-4257-01 COSM4018748 c.909C>T p.T303T Substitution - coding silent 11:122789237-122789237 + CLL051 COSM1289492 c.856A>G p.M286V Substitution - Missense 11:122789184-122789184 + T37 COSM4738649 c.1297C>T p.R433* Substitution - Nonsense 11:122796973-122796973 + HCT15 COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + PR-00-1165 COSM248174 c.270C>T p.Y90Y Substitution - coding silent 11:122777078-122777078 + SS6003125 COSM3716777 c.1019T>C p.L340P Substitution - Missense 11:122794740-122794740 + ATL024 COSM5703900 c.1636T>G p.Y546D Substitution - Missense 11:122806450-122806450 + SNUH_G76_S1 COSM147341 c.882T>G p.G294G Substitution - coding silent 11:122789210-122789210 + TCGA-AZ-4682-01 COSM1352070 c.1795G>A p.V599I Substitution - Missense 11:122808159-122808159 + 9227_T COSM5042481 c.1900C>T p.H634Y Substitution - Missense 11:122809836-122809836 + 451 COSM1742456 c.1945G>A p.E649K Substitution - Missense 11:122809881-122809881 + TCGA-EE-A2MR-06 COSM3444447 c.1136C>T p.P379L Substitution - Missense 11:122796178-122796178 + TCGA-AA-3510-01 COSM1352061 c.496C>T p.L166F Substitution - Missense 11:122779590-122779590 + 6T COSM3734506 c.1499T>G p.F500C Substitution - Missense 11:122801236-122801236 + 721LT COSM147340 c.202G>A p.A68T Substitution - Missense 11:122776259-122776259 + TCGA-UC-A7PF-01 COSM4830295 c.1930G>C p.E644Q Substitution - Missense 11:122809866-122809866 + TCGA-B5-A11E-01 COSM924105 c.1728C>T p.H576H Substitution - coding silent 11:122808092-122808092 + TCGA-37-4133-01 COSM686796 c.501T>A p.Y167* Substitution - Nonsense 11:122779595-122779595 + PD9842a COSM5772752 c.1449A>G p.K483K Substitution - coding silent 11:122799033-122799033 + 449 COSM4435330 c.976C>T p.H326Y Substitution - Missense 11:122789304-122789304 + S00946 COSM316326 c.1592A>G p.Y531C Substitution - Missense 11:122801329-122801329 + AOCS-162-1-1 COSM3981345 c.496C>G p.L166V Substitution - Missense 11:122779590-122779590 + 43 COSM5734064 c.604G>C p.V202L Substitution - Missense 11:122783055-122783055 + TCGA-EB-A5UM-01 COSM3444445 c.487C>T p.P163S Substitution - Missense 11:122779581-122779581 + DLD1 COSM1676528 c.986A>G p.Y329C Substitution - Missense 11:122794707-122794707 + TCGA-JX-A3Q0-01 COSM1973397 c.1057G>A p.E353K Substitution - Missense 11:122794778-122794778 + S01864 COSM5671558 c.908C>A p.T303N Substitution - Missense 11:122789236-122789236 + SNUH_G16_S1 COSM3752185 c.1008A>G p.S336S Substitution - coding silent 11:122794729-122794729 + PT28 COSM5906382 c.602-4C>T p.? Unknown 11:122783049-122783049 + PT45 COSM5927657 c.216-1G>A p.? Unknown 11:122777023-122777023 + 53 COSM5734839 c.706G>A p.V236I Substitution - Missense 11:122783157-122783157 + 587376 COSM1231535 c.396C>A p.F132L Substitution - Missense 11:122777204-122777204 + T2940 COSM4738643 c.68delC p.R25fs*76 Deletion - Frameshift 11:122656117-122656117 + TCGA-06-0173 COSM2150426 c.639G>A p.V213V Substitution - coding silent 11:122783090-122783090 + CSCC-31-T COSM4551620 c.534G>A p.K178K Substitution - coding silent 11:122779628-122779628 + ESCC_144 COSM5644529 c.1035A>G p.G345G Substitution - coding silent 11:122794756-122794756 + HT115 COSM1973415 c.1807C>T p.R603* Substitution - Nonsense 11:122808171-122808171 + TCGA-BS-A0UA-01 COSM924092 c.458G>A p.R153H Substitution - Missense 11:122779552-122779552 + DLD1 COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + 6P2-2 COSM3734506 c.1499T>G p.F500C Substitution - Missense 11:122801236-122801236 + U373 COSM1676529 c.1937T>G p.L646W Substitution - Missense 11:122809873-122809873 + CN-AML-NR-08-Dx COSM3752185 c.1008A>G p.S336S Substitution - coding silent 11:122794729-122794729 + TCGA-EL-A3T3-01 COSM3368257 c.870C>T p.S290S Substitution - coding silent 11:122789198-122789198 + LIM1899 COSM4639710 c.1150C>T p.R384* Substitution - Nonsense 11:122796192-122796192 + TCGA-EE-A185-06 COSM202698 c.1417C>T p.R473C Substitution - Missense 11:122799001-122799001 + TCGA-A5-A0GP-01 COSM924104 c.1679T>G p.I560R Substitution - Missense 11:122806493-122806493 + SNB19 COSM1676529 c.1937T>G p.L646W Substitution - Missense 11:122809873-122809873 + HT115 COSM1973395 c.1007C>T p.S336L Substitution - Missense 11:122794728-122794728 + MPCC_0032_Pa_C COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + CSCC-41-T COSM4472588 c.1794C>T p.F598F Substitution - coding silent 11:122808158-122808158 + HCT-15 COSM1676527 c.332C>T p.S111L Substitution - Missense 11:122777140-122777140 + CSCC-27-T COSM4471723 c.1738C>T p.L580F Substitution - Missense 11:122808102-122808102 + TCGA-BS-A0UV-01 COSM924085 c.28C>T p.L10F Substitution - Missense 11:122656077-122656077 + ESCC_57 COSM5632283 c.1789G>A p.D597N Substitution - Missense 11:122808153-122808153 + 587338 COSM924095 c.545C>T p.A182V Substitution - Missense 11:122779639-122779639 + TCGA-AM-5820-01 COSM3752185 c.1008A>G p.S336S Substitution - coding silent 11:122794729-122794729 + TCGA-D1-A17D-01 COSM924096 c.602-1delG p.? Unknown 11:122783052-122783052 + TCGA-DD-A3A9-01 COSM4920734 c.783C>T p.V261V Substitution - coding silent 11:122789111-122789111 + I2L-P19Ta-Tumor-Biopsy COSM5360574 c.1049G>A p.R350Q Substitution - Missense 11:122794770-122794770 + TCGA-F5-6814-01 COSM3415610 c.1917C>T p.G639G Substitution - coding silent 11:122809853-122809853 + TCGA-AM-5820-01 COSM147341 c.882T>G p.G294G Substitution - coding silent 11:122789210-122789210 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.444029;Hs.444049;Hs.444056;Hs.444059;Hs.444075 11q24.1 609201 1520898|dbSNP|BC007541|C/T|non-coding||2268|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - ACAATCAATCA IntronicInsertion . c.162-23905_162-23904insCAATCAATCAA 11 122623021 CLL A G 3-UTRSNV . c.1947+2288A>G 11 122682879 HC A G Missense p.I281V c.841A>G 11 122659877 STAD A G Missense p.K437R c.1310A>G 11 122667694 UCEC A G Missense p.M286V c.856A>G 11 122659892 CLL A G Missense p.N480S c.1439A>G 11 122669731 COREAD A G Missense p.Y531C c.1592A>G 11 122672037 SCLC A T 3-UTRSNV . c.1947+3674A>T 11 122684265 HC A T Missense p.S526C c.1576A>T 11 122672021 COREAD C A Missense p.Q382K c.1144C>A 11 122666894 LUAD C A Missense p.Q67K c.199C>A 11 122646964 LUSC C A Synonymous p.P225P c.675C>A 11 122653834 LUAD C A Synonymous p.P225P c.675C>A 11 122653834 LUSC C A Synonymous p.P264P c.792C>A 11 122659828 STAD C A Synonymous p.R603R c.1807C>A 11 122678879 STAD C A Synonymous p.S579S c.1737C>A 11 122678809 LUSC C - Frameshift p.R25Gfs*76 c.73delC 11 122526825 STAD C T Missense p.P96S c.286C>T 11 122647802 CM C T Missense p.R416C c.1246C>T 11 122667630 CM C T Missense p.R473C c.1417C>T 11 122669709 CM C T Missense p.S579F c.1736C>T 11 122678808 ESCA C T Nonsense p.R252* c.754C>T 11 122653913 CM C T Synonymous p.I463I c.1389C>T 11 122669681 CM C T Synonymous p.L92L c.276C>T 11 122647792 BLCA C T Synonymous p.S290S c.870C>T 11 122659906 THCA C T Synonymous p.S60S c.180C>T 11 122646945 CM C T Synonymous p.T303T c.909C>T 11 122659945 STAD C T Synonymous p.T303T c.909C>T 11 122659945 THCA C T Synonymous p.T97T c.291C>T 11 122647807 BRCA C T Synonymous p.V91V c.273C>T 11 122647789 LUAD G A IntronicSNV . c.161+46864G>A 11 122573782 CLL G A IntronicSNV . c.161+5965G>A 11 122532883 CLL G A IntronicSNV . c.162-46479G>A 11 122600448 CLL G A IntronicSNV . c.162-50G>A 11 122646877 CM G A IntronicSNV . c.601+3G>A 11 122650406 CM G A Missense p.A577T c.1729G>A 11 122678801 STAD G A Missense p.D344N c.1030G>A 11 122665459 CM G A Missense p.D83N c.247G>A 11 122647763 CM G A Missense p.G78S c.232G>A 11 122647748 HC G A Missense p.R153H c.458G>A 11 122650260 UCEC G A Missense p.R349K c.1046G>A 11 122665475 RCCC G A SpliceDonorSNV . c.1450+1G>A 11 122669743 LUSC G A Synonymous p.L82L c.246G>A 11 122647762 CM G A Synonymous p.Q623Q c.1869G>A 11 122680513 THCA G A Synonymous p.V213V c.639G>A 11 122653798 GBM G C Missense p.E519Q c.1555G>C 11 122672000 BLCA G C Synonymous p.A582A c.1746G>C 11 122678818 STAD G - IntronicDeletion . c.602-1delG 11 122653760 UCEC G T Missense p.G174C c.520G>T 11 122650322 CM G T SpliceDonorSNV . c.1357+1G>T 11 122667742 LUAD G T Synonymous p.V204V c.612G>T 11 122653771 LUSC T A Nonsense p.Y167* c.501T>A 11 122650303 LUSC T C IntronicSNV . c.981-2391T>C 11 122663019 CLL T C Missense p.V66A c.197T>C 11 122646962 CM T G Missense p.I560R c.1679T>G 11 122677201 UCEC