Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 22 20812147 20812147 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr22:20812147C>T c.1253G>A c.(1252-1254)cGc>cAc p.R418H BLCA 22 20800943 20800943 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr22:20800943C>T c.1326G>A c.(1324-1326)gcG>gcA p.A442A BLCA 22 20812254 20812254 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr22:20812254G>C c.1146C>G c.(1144-1146)atC>atG p.I382M BLCA 22 20812283 20812283 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr22:20812283C>G c.1117G>C c.(1117-1119)Gac>Cac p.D373H BLCA 22 20819315 20819315 + Silent SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr22:20819315G>C c.942C>G c.(940-942)ctC>ctG p.L314L BLCA 22 20819441 20819441 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr22:20819441G>A c.816C>T c.(814-816)agC>agT p.S272S BLCA 22 20819711 20819711 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr22:20819711G>A c.546C>T c.(544-546)ttC>ttT p.F182F BRCA 22 20800742 20800742 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 g.chr22:20800742C>T c.1527G>A c.(1525-1527)agG>agA p.R509R BRCA 22 20819207 20819207 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr22:20819207G>A c.1050C>T c.(1048-1050)ttC>ttT p.F350F CESC 22 20796610 20796610 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 g.chr22:20796610C>T c.1655G>A c.(1654-1656)cGc>cAc p.R552H COAD 22 20800738 20800738 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr22:20800738C>T c.1531G>A c.(1531-1533)Gtg>Atg p.V511M COAD 22 20800820 20800820 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr22:20800820G>A c.1449C>T c.(1447-1449)cgC>cgT p.R483R COAD 22 20800824 20800824 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr22:20800824C>T c.1445G>A c.(1444-1446)cGg>cAg p.R482Q COAD 22 20800863 20800863 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr22:20800863C>T c.1406G>A c.(1405-1407)gGc>gAc p.G469D COAD 22 20812116 20812116 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr22:20812116G>A c.1284C>T c.(1282-1284)taC>taT p.Y428Y COAD 22 20812122 20812122 + Nonsense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr22:20812122C>T c.1278G>A c.(1276-1278)tgG>tgA p.W426* COAD 22 20819391 20819391 + Missense_Mutation SNP G G A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr22:20819391G>A c.866C>T c.(865-867)cCg>cTg p.P289L COAD 22 20819490 20819490 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr22:20819490C>T c.767G>A c.(766-768)cGg>cAg p.R256Q COAD 22 20819672 20819674 + In_Frame_Del DEL CTT CTT - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr22:20819672_20819674delCTT c.583_585delAAG c.(583-585)aagdel p.K195del COAD 22 20843305 20843305 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr22:20843305C>T c.194G>A c.(193-195)cGc>cAc p.R65H COAD 22 20843432 20843432 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr22:20843432C>T c.67G>A c.(67-69)Gtg>Atg p.V23M COAD 22 20843447 20843447 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr22:20843447A>G c.52T>C c.(52-54)Tca>Cca p.S18P COAD 22 20843447 20843447 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr22:20843447A>G c.52T>C c.(52-54)Tca>Cca p.S18P COADREAD 22 20800738 20800738 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr22:20800738C>T c.1531G>A c.(1531-1533)Gtg>Atg p.V511M COADREAD 22 20800820 20800820 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr22:20800820G>A c.1449C>T c.(1447-1449)cgC>cgT p.R483R COADREAD 22 20800824 20800824 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr22:20800824C>T c.1445G>A c.(1444-1446)cGg>cAg p.R482Q COADREAD 22 20800863 20800863 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr22:20800863C>T c.1406G>A c.(1405-1407)gGc>gAc p.G469D COADREAD 22 20800900 20800900 + Missense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr22:20800900C>T c.1369G>A c.(1369-1371)Gag>Aag p.E457K COADREAD 22 20812116 20812116 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr22:20812116G>A c.1284C>T c.(1282-1284)taC>taT p.Y428Y COADREAD 22 20812122 20812122 + Nonsense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr22:20812122C>T c.1278G>A c.(1276-1278)tgG>tgA p.W426* COADREAD 22 20819391 20819391 + Missense_Mutation SNP G G A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr22:20819391G>A c.866C>T c.(865-867)cCg>cTg p.P289L COADREAD 22 20819490 20819490 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr22:20819490C>T c.767G>A c.(766-768)cGg>cAg p.R256Q COADREAD 22 20819672 20819674 + In_Frame_Del DEL CTT CTT - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr22:20819672_20819674delCTT c.583_585delAAG c.(583-585)aagdel p.K195del COADREAD 22 20843305 20843305 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr22:20843305C>T c.194G>A c.(193-195)cGc>cAc p.R65H COADREAD 22 20843432 20843432 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr22:20843432C>T c.67G>A c.(67-69)Gtg>Atg p.V23M COADREAD 22 20843447 20843447 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr22:20843447A>G c.52T>C c.(52-54)Tca>Cca p.S18P COADREAD 22 20843447 20843447 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr22:20843447A>G c.52T>C c.(52-54)Tca>Cca p.S18P COADREAD 22 20843447 20843447 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr22:20843447A>G c.52T>C c.(52-54)Tca>Cca p.S18P ESCA 22 20819524 20819524 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr22:20819524G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W ESCA 22 20825674 20825674 + Missense_Mutation SNP T T A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr22:20825674T>A c.356A>T c.(355-357)aAt>aTt p.N119I GBM 22 20819524 20819524 + Missense_Mutation SNP G G A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 g.chr22:20819524G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W GBMLGG 22 20796502 20796502 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:20796502G>A c.1763C>T c.(1762-1764)gCc>gTc p.A588V GBMLGG 22 20819524 20819524 + Missense_Mutation SNP G G A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 g.chr22:20819524G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W HNSC 22 20796566 20796566 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr22:20796566C>T c.1699G>A c.(1699-1701)Gat>Aat p.D567N HNSC 22 20796591 20796591 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr22:20796591G>T c.1674C>A c.(1672-1674)agC>agA p.S558R HNSC 22 20800823 20800823 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr22:20800823C>T c.1446G>A c.(1444-1446)cgG>cgA p.R482R HNSC 22 20819166 20819166 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr22:20819166C>A c.1091G>T c.(1090-1092)cGa>cTa p.R364L HNSC 22 20819551 20819551 + Missense_Mutation SNP C C T TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr22:20819551C>T c.706G>A c.(706-708)Gag>Aag p.E236K HNSC 22 20843369 20843369 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr22:20843369G>T c.130C>A c.(130-132)Cgg>Agg p.R44R HNSC 22 20843396 20843396 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr22:20843396C>T c.103G>A c.(103-105)Gct>Act p.A35T KIPAN 22 20796432 20796432 + Silent SNP G G C TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr22:20796432G>C c.1833C>G c.(1831-1833)gcC>gcG p.A611A KIPAN 22 20843449 20843449 + Missense_Mutation SNP G G T TCGA-BP-4337-01A-01D-1366-10 TCGA-BP-4337-11A-01D-1366-10 g.chr22:20843449G>T c.50C>A c.(49-51)cCc>cAc p.P17H KIRC 22 20843449 20843449 + Missense_Mutation SNP G G T TCGA-BP-4337-01A-01D-1366-10 TCGA-BP-4337-11A-01D-1366-10 g.chr22:20843449G>T c.50C>A c.(49-51)cCc>cAc p.P17H KIRP 22 20796432 20796432 + Silent SNP G G C TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr22:20796432G>C c.1833C>G c.(1831-1833)gcC>gcG p.A611A LGG 22 20796502 20796502 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:20796502G>A c.1763C>T c.(1762-1764)gCc>gTc p.A588V LIHC 22 20796519 20796519 + Silent SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr22:20796519G>A c.1746C>T c.(1744-1746)tcC>tcT p.S582S LIHC 22 20819206 20819206 + Missense_Mutation SNP C C T TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr22:20819206C>T c.1051G>A c.(1051-1053)Gta>Ata p.V351I LUAD 22 20796476 20796476 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr22:20796476G>C c.1789C>G c.(1789-1791)Ctg>Gtg p.L597V LUAD 22 20796526 20796526 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr22:20796526T>A c.1739A>T c.(1738-1740)gAc>gTc p.D580V LUAD 22 20796599 20796599 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr22:20796599G>A c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C LUAD 22 20812279 20812279 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr22:20812279G>A c.1121C>T c.(1120-1122)cCa>cTa p.P374L LUAD 22 20819222 20819222 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr22:20819222C>A c.1035G>T c.(1033-1035)gcG>gcT p.A345A LUAD 22 20819347 20819347 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr22:20819347C>A c.910G>T c.(910-912)Ggg>Tgg p.G304W LUAD 22 20819798 20819798 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr22:20819798G>A c.459C>T c.(457-459)ctC>ctT p.L153L LUAD 22 20819800 20819800 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr22:20819800G>C c.457C>G c.(457-459)Ctc>Gtc p.L153V LUAD 22 20825748 20825748 + Silent SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr22:20825748G>A c.282C>T c.(280-282)caC>caT p.H94H LUAD 22 20843492 20843492 + Missense_Mutation SNP C C G TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr22:20843492C>G c.7G>C c.(7-9)Gag>Cag p.E3Q LUSC 22 20812204 20812204 + Missense_Mutation SNP C C A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr22:20812204C>A c.1196G>T c.(1195-1197)aGg>aTg p.R399M LUSC 22 20819555 20819555 + Silent SNP C C A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr22:20819555C>A c.702G>T c.(700-702)ctG>ctT p.L234L LUSC 22 20819559 20819559 + Nonsense_Mutation SNP G G T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 g.chr22:20819559G>T c.698C>A c.(697-699)tCg>tAg p.S233* LUSC 22 20819581 20819581 + Nonsense_Mutation SNP G G A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr22:20819581G>A c.676C>T c.(676-678)Cag>Tag p.Q226* LUSC 22 20819605 20819605 + Missense_Mutation SNP G G T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr22:20819605G>T c.652C>A c.(652-654)Ctt>Att p.L218I LUSC 22 20819760 20819760 + Missense_Mutation SNP C C T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr22:20819760C>T c.497G>A c.(496-498)cGc>cAc p.R166H OV 22 20819202 20819202 + Missense_Mutation SNP T T A TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 g.chr22:20819202T>A c.1055A>T c.(1054-1056)tAc>tTc p.Y352F PAAD 22 20800760 20800760 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:20800760G>A c.1509C>T c.(1507-1509)aaC>aaT p.N503N PAAD 22 20800871 20800871 + Silent SNP G G A TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr22:20800871G>A c.1398C>T c.(1396-1398)taC>taT p.Y466Y PAAD 22 20819390 20819390 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr22:20819390C>T c.867G>A c.(865-867)ccG>ccA p.P289P PAAD 22 20819860 20819860 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:20819860G>A c.397C>T c.(397-399)Cca>Tca p.P133S PAAD 22 20843290 20843290 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:20843290G>A c.209C>T c.(208-210)gCg>gTg p.A70V PRAD 22 20800756 20800756 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 g.chr22:20800756C>T c.1513G>A c.(1513-1515)Gcc>Acc p.A505T PRAD 22 20800831 20800831 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:20800831G>A c.1438C>T c.(1438-1440)Cct>Tct p.P480S READ 22 20800900 20800900 + Missense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr22:20800900C>T c.1369G>A c.(1369-1371)Gag>Aag p.E457K READ 22 20843447 20843447 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr22:20843447A>G c.52T>C c.(52-54)Tca>Cca p.S18P SARC 22 20819155 20819155 + Silent SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 g.chr22:20819155G>T c.1102C>A c.(1102-1104)Cga>Aga p.R368R SARC 22 20825717 20825717 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 g.chr22:20825717G>T c.313C>A c.(313-315)Cta>Ata p.L105I SKCM 22 20796379 20796379 + Missense_Mutation SNP T T C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr22:20796379T>C c.1886A>G c.(1885-1887)gAc>gGc p.D629G SKCM 22 20796595 20796595 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr22:20796595C>T c.1670G>A c.(1669-1671)gGc>gAc p.G557D SKCM 22 20812259 20812259 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr22:20812259G>A c.1141C>T c.(1141-1143)Cag>Tag p.Q381* SKCM 22 20819167 20819167 + Nonsense_Mutation SNP G G A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr22:20819167G>A c.1090C>T c.(1090-1092)Cga>Tga p.R364* SKCM 22 20819207 20819207 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr22:20819207G>A c.1050C>T c.(1048-1050)ttC>ttT p.F350F SKCM 22 20819207 20819207 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr22:20819207G>A c.1050C>T c.(1048-1050)ttC>ttT p.F350F SKCM 22 20819329 20819329 + Missense_Mutation SNP G G A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr22:20819329G>A c.928C>T c.(928-930)Ccg>Tcg p.P310S SKCM 22 20819536 20819536 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr22:20819536G>A c.721C>T c.(721-723)Ctt>Ttt p.L241F SKCM 22 20819664 20819664 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr22:20819664G>A c.593C>T c.(592-594)tCc>tTc p.S198F SKCM 22 20819666 20819666 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:20819666G>A c.591C>T c.(589-591)taC>taT p.Y197Y SKCM 22 20819739 20819739 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr22:20819739G>A c.518C>T c.(517-519)aCc>aTc p.T173I SKCM 22 20825649 20825649 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:20825649G>A c.381C>T c.(379-381)gcC>gcT p.A127A SKCM 22 20825681 20825681 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr22:20825681G>A c.349C>T c.(349-351)Ctg>Ttg p.L117L SKCM 22 20825682 20825682 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr22:20825682G>A c.348C>T c.(346-348)agC>agT p.S116S SKCM 22 20825709 20825709 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:20825709G>A c.321C>T c.(319-321)ttC>ttT p.F107F SKCM 22 20825720 20825720 + Missense_Mutation SNP T T A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr22:20825720T>A c.310A>T c.(310-312)Atc>Ttc p.I104F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 20783531 20783531 single base substitution C T 3_prime_UTR_variant BLCA-CN 22 20783592 20783592 single base substitution C G 3_prime_UTR_variant BLCA-US 22 20785803 20785803 deletion of <=200bp C - intron_variant BLCA-US 22 20812254 20812254 single base substitution G C exon_variant BLCA-US 22 20812254 20812254 single base substitution G C missense_variant I239M 717C>G BLCA-US 22 20812254 20812254 single base substitution G C missense_variant I382M 1146C>G BRCA-EU 22 20778644 20778644 single base substitution C T downstream_gene_variant BRCA-EU 22 20779340 20779340 single base substitution T A downstream_gene_variant BRCA-EU 22 20779786 20779786 single base substitution G A downstream_gene_variant BRCA-EU 22 20780232 20780232 single base substitution A T downstream_gene_variant BRCA-EU 22 20780353 20780353 single base substitution C G downstream_gene_variant BRCA-EU 22 20781987 20781987 single base substitution G A downstream_gene_variant BRCA-EU 22 20783741 20783741 single base substitution C G intron_variant BRCA-EU 22 20785096 20785096 single base substitution G C intron_variant BRCA-EU 22 20786531 20786531 single base substitution G T intron_variant BRCA-EU 22 20787378 20787378 single base substitution C T intron_variant BRCA-EU 22 20790365 20790365 single base substitution G T intron_variant BRCA-EU 22 20791037 20791037 single base substitution T C downstream_gene_variant BRCA-EU 22 20791037 20791037 single base substitution T C intron_variant BRCA-EU 22 20791383 20791383 single base substitution G C downstream_gene_variant BRCA-EU 22 20791383 20791383 single base substitution G C intron_variant BRCA-EU 22 20791674 20791674 single base substitution C A downstream_gene_variant BRCA-EU 22 20791674 20791674 single base substitution C A intron_variant BRCA-EU 22 20792851 20792851 single base substitution A C downstream_gene_variant BRCA-EU 22 20792851 20792851 single base substitution A C intron_variant BRCA-EU 22 20793311 20793311 single base substitution G T downstream_gene_variant BRCA-EU 22 20793311 20793311 single base substitution G T intron_variant BRCA-EU 22 20794231 20794231 single base substitution G C downstream_gene_variant BRCA-EU 22 20794231 20794231 single base substitution G C intron_variant BRCA-EU 22 20794424 20794424 single base substitution G A downstream_gene_variant BRCA-EU 22 20794424 20794424 single base substitution G A intron_variant BRCA-EU 22 20794439 20794439 single base substitution G C downstream_gene_variant BRCA-EU 22 20794439 20794439 single base substitution G C intron_variant BRCA-EU 22 20794914 20794914 single base substitution G C downstream_gene_variant BRCA-EU 22 20794914 20794914 single base substitution G C intron_variant BRCA-EU 22 20796057 20796057 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 20796057 20796057 single base substitution G A intron_variant BRCA-EU 22 20796482 20796482 single base substitution G A intron_variant BRCA-EU 22 20796482 20796482 single base substitution G A missense_variant R452C 1354C>T BRCA-EU 22 20796482 20796482 single base substitution G A missense_variant R595C 1783C>T BRCA-EU 22 20798002 20798002 insertion of <=200bp - GACA intron_variant BRCA-EU 22 20798567 20798567 single base substitution C T intron_variant BRCA-EU 22 20799225 20799225 single base substitution T C intron_variant BRCA-EU 22 20801294 20801294 single base substitution C G intron_variant BRCA-EU 22 20801294 20801294 single base substitution C G upstream_gene_variant BRCA-EU 22 20802653 20802657 deletion of <=200bp CAAAA - intron_variant BRCA-EU 22 20802653 20802657 deletion of <=200bp CAAAA - upstream_gene_variant BRCA-EU 22 20802888 20802888 single base substitution A T intron_variant BRCA-EU 22 20802888 20802888 single base substitution A T upstream_gene_variant BRCA-EU 22 20803421 20803421 single base substitution C T intron_variant BRCA-EU 22 20803421 20803421 single base substitution C T upstream_gene_variant BRCA-EU 22 20805397 20805397 single base substitution C G intron_variant BRCA-EU 22 20805397 20805397 single base substitution C G upstream_gene_variant BRCA-EU 22 20806069 20806069 single base substitution C T downstream_gene_variant BRCA-EU 22 20806069 20806069 single base substitution C T intron_variant BRCA-EU 22 20806397 20806397 single base substitution C G downstream_gene_variant BRCA-EU 22 20806397 20806397 single base substitution C G intron_variant BRCA-EU 22 20806487 20806487 single base substitution A G downstream_gene_variant BRCA-EU 22 20806487 20806487 single base substitution A G intron_variant BRCA-EU 22 20808324 20808324 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 20808324 20808324 deletion of <=200bp A - intron_variant BRCA-EU 22 20808616 20808616 insertion of <=200bp - A downstream_gene_variant BRCA-EU 22 20808616 20808616 insertion of <=200bp - A intron_variant BRCA-EU 22 20811519 20811519 single base substitution C G downstream_gene_variant BRCA-EU 22 20811519 20811519 single base substitution C G intron_variant BRCA-EU 22 20816651 20816651 single base substitution T A downstream_gene_variant BRCA-EU 22 20816651 20816651 single base substitution T A intron_variant BRCA-EU 22 20817279 20817279 single base substitution A C downstream_gene_variant BRCA-EU 22 20817279 20817279 single base substitution A C intron_variant BRCA-EU 22 20820090 20820090 insertion of <=200bp - T intron_variant BRCA-EU 22 20820090 20820090 insertion of <=200bp - T upstream_gene_variant BRCA-EU 22 20822953 20822953 deletion of <=200bp T - intron_variant BRCA-EU 22 20822953 20822953 deletion of <=200bp T - upstream_gene_variant BRCA-EU 22 20823045 20823045 single base substitution C A intron_variant BRCA-EU 22 20823045 20823045 single base substitution C A upstream_gene_variant BRCA-EU 22 20823063 20823063 single base substitution C T intron_variant BRCA-EU 22 20823063 20823063 single base substitution C T upstream_gene_variant BRCA-EU 22 20823069 20823069 single base substitution C T intron_variant BRCA-EU 22 20823069 20823069 single base substitution C T upstream_gene_variant BRCA-EU 22 20830112 20830112 single base substitution G C intron_variant BRCA-EU 22 20830898 20830898 single base substitution C T intron_variant BRCA-EU 22 20835226 20835226 single base substitution C A downstream_gene_variant BRCA-EU 22 20835226 20835226 single base substitution C A intron_variant BRCA-EU 22 20835875 20835875 single base substitution T A downstream_gene_variant BRCA-EU 22 20835875 20835875 single base substitution T A intron_variant BRCA-EU 22 20837387 20837387 single base substitution C T downstream_gene_variant BRCA-EU 22 20837387 20837387 single base substitution C T intron_variant BRCA-EU 22 20837456 20837456 single base substitution C G downstream_gene_variant BRCA-EU 22 20837456 20837456 single base substitution C G intron_variant BRCA-EU 22 20837752 20837752 single base substitution C G downstream_gene_variant BRCA-EU 22 20837752 20837752 single base substitution C G intron_variant BRCA-EU 22 20838068 20838068 single base substitution C G downstream_gene_variant BRCA-EU 22 20838068 20838068 single base substitution C G exon_variant BRCA-EU 22 20838068 20838068 single base substitution C G intron_variant BRCA-EU 22 20839199 20839199 single base substitution A T downstream_gene_variant BRCA-EU 22 20839199 20839199 single base substitution A T intron_variant BRCA-EU 22 20839458 20839458 deletion of <=200bp G - downstream_gene_variant BRCA-EU 22 20839458 20839458 deletion of <=200bp G - intron_variant BRCA-EU 22 20841042 20841042 single base substitution C T downstream_gene_variant BRCA-EU 22 20841042 20841042 single base substitution C T intron_variant BRCA-EU 22 20842441 20842442 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 22 20842441 20842442 deletion of <=200bp AG - intron_variant BRCA-EU 22 20842649 20842649 single base substitution G A downstream_gene_variant BRCA-EU 22 20842649 20842649 single base substitution G A intron_variant BRCA-EU 22 20842969 20842969 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG downstream_gene_variant BRCA-EU 22 20842969 20842969 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG exon_variant BRCA-EU 22 20842969 20842969 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG intron_variant BRCA-EU 22 20843202 20843202 single base substitution C G downstream_gene_variant BRCA-EU 22 20843202 20843202 single base substitution C G exon_variant BRCA-EU 22 20843202 20843202 single base substitution C G intron_variant BRCA-EU 22 20843871 20843871 single base substitution C G intron_variant BRCA-EU 22 20844781 20844781 single base substitution C T intron_variant BRCA-EU 22 20844924 20844924 single base substitution C T intron_variant BRCA-EU 22 20845599 20845599 single base substitution G A 5_prime_UTR_variant BRCA-EU 22 20845599 20845599 single base substitution G A intron_variant BRCA-EU 22 20847390 20847390 single base substitution C A intron_variant BRCA-EU 22 20847390 20847390 single base substitution C A upstream_gene_variant BRCA-EU 22 20848371 20848371 single base substitution C A intron_variant BRCA-EU 22 20848371 20848371 single base substitution C A upstream_gene_variant BRCA-EU 22 20848478 20848478 single base substitution C T intron_variant BRCA-EU 22 20848478 20848478 single base substitution C T upstream_gene_variant BRCA-EU 22 20849513 20849513 single base substitution C A intron_variant BRCA-EU 22 20849513 20849513 single base substitution C A upstream_gene_variant BRCA-EU 22 20850889 20850889 single base substitution G A upstream_gene_variant BRCA-EU 22 20852202 20852202 single base substitution G A upstream_gene_variant BRCA-EU 22 20853564 20853564 single base substitution C T upstream_gene_variant BRCA-EU 22 20854909 20854909 single base substitution T A upstream_gene_variant BRCA-EU 22 20855150 20855150 single base substitution G A upstream_gene_variant BRCA-FR 22 20781987 20781987 single base substitution G A downstream_gene_variant BRCA-FR 22 20790125 20790125 single base substitution C G intron_variant BRCA-FR 22 20792851 20792851 single base substitution A C downstream_gene_variant BRCA-FR 22 20792851 20792851 single base substitution A C intron_variant BRCA-FR 22 20793311 20793311 single base substitution G T downstream_gene_variant BRCA-FR 22 20793311 20793311 single base substitution G T intron_variant BRCA-FR 22 20794231 20794231 single base substitution G C downstream_gene_variant BRCA-FR 22 20794231 20794231 single base substitution G C intron_variant BRCA-FR 22 20794914 20794914 single base substitution G C downstream_gene_variant BRCA-FR 22 20794914 20794914 single base substitution G C intron_variant BRCA-FR 22 20796057 20796057 single base substitution G A 3_prime_UTR_variant BRCA-FR 22 20796057 20796057 single base substitution G A intron_variant BRCA-FR 22 20803421 20803421 single base substitution C T intron_variant BRCA-FR 22 20803421 20803421 single base substitution C T upstream_gene_variant BRCA-FR 22 20816651 20816651 single base substitution T A downstream_gene_variant BRCA-FR 22 20816651 20816651 single base substitution T A intron_variant BRCA-FR 22 20818642 20818642 single base substitution C G downstream_gene_variant BRCA-FR 22 20818642 20818642 single base substitution C G intron_variant BRCA-FR 22 20819792 20819792 single base substitution G A downstream_gene_variant BRCA-FR 22 20819792 20819792 single base substitution G A exon_variant BRCA-FR 22 20819792 20819792 single base substitution G A synonymous_variant V12V 36C>T BRCA-FR 22 20819792 20819792 single base substitution G A synonymous_variant V155V 465C>T BRCA-FR 22 20819792 20819792 single base substitution G A synonymous_variant V187V 561C>T BRCA-FR 22 20819792 20819792 single base substitution G A synonymous_variant V189V 567C>T BRCA-FR 22 20819792 20819792 single base substitution G A synonymous_variant V78V 234C>T BRCA-FR 22 20819792 20819792 single base substitution G A upstream_gene_variant BRCA-FR 22 20839199 20839199 single base substitution A T downstream_gene_variant BRCA-FR 22 20839199 20839199 single base substitution A T intron_variant BRCA-FR 22 20841042 20841042 single base substitution C T downstream_gene_variant BRCA-FR 22 20841042 20841042 single base substitution C T intron_variant BRCA-FR 22 20855150 20855150 single base substitution G A upstream_gene_variant BRCA-UK 22 20798567 20798567 single base substitution C T intron_variant BRCA-US 22 20800742 20800742 single base substitution C T exon_variant BRCA-US 22 20800742 20800742 single base substitution C T synonymous_variant R366R 1098G>A BRCA-US 22 20800742 20800742 single base substitution C T synonymous_variant R509R 1527G>A BRCA-US 22 20819207 20819207 single base substitution G A downstream_gene_variant BRCA-US 22 20819207 20819207 single base substitution G A exon_variant BRCA-US 22 20819207 20819207 single base substitution G A intron_variant BRCA-US 22 20819207 20819207 single base substitution G A synonymous_variant F207F 621C>T BRCA-US 22 20819207 20819207 single base substitution G A synonymous_variant F350F 1050C>T BRCA-US 22 20843516 20843516 single base substitution C T 5_prime_UTR_variant BRCA-US 22 20843516 20843516 single base substitution C T exon_variant BRCA-US 22 20843516 20843516 single base substitution C T intron_variant BRCA-US 22 20843516 20843516 single base substitution C T missense_variant D27N 79G>A BRCA-US 22 20843516 20843516 single base substitution C T missense_variant D29N 85G>A BRCA-US 22 20847472 20847472 single base substitution A T intron_variant BRCA-US 22 20847472 20847472 single base substitution A T missense_variant L11H 32T>A BRCA-US 22 20847472 20847472 single base substitution A T upstream_gene_variant BTCA-JP 22 20779604 20779604 single base substitution T G downstream_gene_variant BTCA-JP 22 20779768 20779768 single base substitution G C downstream_gene_variant BTCA-JP 22 20779828 20779828 single base substitution G A downstream_gene_variant BTCA-JP 22 20779873 20779873 single base substitution G A downstream_gene_variant BTCA-JP 22 20783485 20783485 single base substitution C A downstream_gene_variant BTCA-JP 22 20785253 20785253 single base substitution C T intron_variant BTCA-JP 22 20785568 20785568 single base substitution G T intron_variant BTCA-JP 22 20791966 20791966 single base substitution G A downstream_gene_variant BTCA-JP 22 20791966 20791966 single base substitution G A intron_variant BTCA-JP 22 20804793 20804793 single base substitution T C intron_variant BTCA-JP 22 20804793 20804793 single base substitution T C upstream_gene_variant BTCA-JP 22 20819739 20819739 single base substitution G A downstream_gene_variant BTCA-JP 22 20819739 20819739 single base substitution G A exon_variant BTCA-JP 22 20819739 20819739 single base substitution G A missense_variant T173I 518C>T BTCA-JP 22 20819739 20819739 single base substitution G A missense_variant T205I 614C>T BTCA-JP 22 20819739 20819739 single base substitution G A missense_variant T207I 620C>T BTCA-JP 22 20819739 20819739 single base substitution G A missense_variant T30I 89C>T BTCA-JP 22 20819739 20819739 single base substitution G A missense_variant T96I 287C>T CESC-US 22 20781775 20781775 single base substitution C G downstream_gene_variant CESC-US 22 20784796 20784796 single base substitution G A 3_prime_UTR_variant CESC-US 22 20786051 20786051 single base substitution G C intron_variant CESC-US 22 20786087 20786087 single base substitution C G intron_variant CESC-US 22 20796610 20796610 single base substitution C T intron_variant CESC-US 22 20796610 20796610 single base substitution C T missense_variant R409H 1226G>A CESC-US 22 20796610 20796610 single base substitution C T missense_variant R552H 1655G>A CLLE-ES 22 20779363 20779363 single base substitution C A downstream_gene_variant CLLE-ES 22 20779367 20779367 single base substitution C A downstream_gene_variant CLLE-ES 22 20780864 20780864 single base substitution C T downstream_gene_variant COAD-US 22 20780024 20780024 insertion of <=200bp - C downstream_gene_variant COAD-US 22 20780029 20780029 insertion of <=200bp - C downstream_gene_variant COAD-US 22 20780031 20780031 single base substitution G C downstream_gene_variant COAD-US 22 20780091 20780091 single base substitution C G downstream_gene_variant COAD-US 22 20780097 20780097 single base substitution G C downstream_gene_variant COAD-US 22 20780296 20780296 single base substitution G A downstream_gene_variant COAD-US 22 20781710 20781710 single base substitution G A downstream_gene_variant COAD-US 22 20784050 20784050 single base substitution T A 3_prime_UTR_variant COAD-US 22 20784814 20784814 single base substitution G A 3_prime_UTR_variant COAD-US 22 20785062 20785062 single base substitution G A intron_variant COAD-US 22 20786121 20786121 single base substitution C T intron_variant COAD-US 22 20800738 20800738 single base substitution C T exon_variant COAD-US 22 20800738 20800738 single base substitution C T missense_variant V368M 1102G>A COAD-US 22 20800738 20800738 single base substitution C T missense_variant V511M 1531G>A COAD-US 22 20800863 20800863 single base substitution C T exon_variant COAD-US 22 20800863 20800863 single base substitution C T missense_variant G326D 977G>A COAD-US 22 20800863 20800863 single base substitution C T missense_variant G469D 1406G>A COAD-US 22 20812122 20812122 single base substitution C T exon_variant COAD-US 22 20812122 20812122 single base substitution C T stop_gained W283* 849G>A COAD-US 22 20812122 20812122 single base substitution C T stop_gained W426* 1278G>A COAD-US 22 20819391 20819391 single base substitution G A downstream_gene_variant COAD-US 22 20819391 20819391 single base substitution G A exon_variant COAD-US 22 20819391 20819391 single base substitution G A intron_variant COAD-US 22 20819391 20819391 single base substitution G A missense_variant P146L 437C>T COAD-US 22 20819391 20819391 single base substitution G A missense_variant P212L 635C>T COAD-US 22 20819391 20819391 single base substitution G A missense_variant P289L 866C>T COAD-US 22 20819490 20819490 single base substitution C T downstream_gene_variant COAD-US 22 20819490 20819490 single base substitution C T exon_variant COAD-US 22 20819490 20819490 single base substitution C T intron_variant COAD-US 22 20819490 20819490 single base substitution C T missense_variant R113Q 338G>A COAD-US 22 20819490 20819490 single base substitution C T missense_variant R179Q 536G>A COAD-US 22 20819490 20819490 single base substitution C T missense_variant R256Q 767G>A COAD-US 22 20819490 20819490 single base substitution C T missense_variant R288Q 863G>A COAD-US 22 20819672 20819674 deletion of <=200bp CTT - downstream_gene_variant COAD-US 22 20819672 20819674 deletion of <=200bp CTT - exon_variant COAD-US 22 20819672 20819674 deletion of <=200bp CTT - inframe_deletion K118 COAD-US 22 20819672 20819674 deletion of <=200bp CTT - inframe_deletion K195 COAD-US 22 20819672 20819674 deletion of <=200bp CTT - inframe_deletion K227 COAD-US 22 20819672 20819674 deletion of <=200bp CTT - inframe_deletion K229 COAD-US 22 20819672 20819674 deletion of <=200bp CTT - inframe_deletion K52 COAD-US 22 20819690 20819690 single base substitution G T downstream_gene_variant COAD-US 22 20819690 20819690 single base substitution G T exon_variant COAD-US 22 20819690 20819690 single base substitution G T synonymous_variant R112R 336C>A COAD-US 22 20819690 20819690 single base substitution G T synonymous_variant R189R 567C>A COAD-US 22 20819690 20819690 single base substitution G T synonymous_variant R221R 663C>A COAD-US 22 20819690 20819690 single base substitution G T synonymous_variant R223R 669C>A COAD-US 22 20819690 20819690 single base substitution G T synonymous_variant R46R 138C>A COAD-US 22 20843432 20843432 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 22 20843432 20843432 single base substitution C T exon_variant COAD-US 22 20843432 20843432 single base substitution C T intron_variant COAD-US 22 20843432 20843432 single base substitution C T missense_variant V23M 67G>A COAD-US 22 20843432 20843432 single base substitution C T missense_variant V55M 163G>A COAD-US 22 20843432 20843432 single base substitution C T missense_variant V57M 169G>A COCA-CN 22 20779768 20779768 single base substitution G C downstream_gene_variant COCA-CN 22 20779779 20779779 single base substitution G A downstream_gene_variant COCA-CN 22 20779782 20779782 single base substitution C T downstream_gene_variant COCA-CN 22 20779877 20779877 single base substitution G A downstream_gene_variant COCA-CN 22 20780255 20780255 single base substitution C T downstream_gene_variant COCA-CN 22 20780359 20780359 single base substitution C T downstream_gene_variant COCA-CN 22 20784081 20784081 single base substitution G A 3_prime_UTR_variant COCA-CN 22 20785084 20785084 single base substitution G T intron_variant COCA-CN 22 20786187 20786187 single base substitution C T intron_variant COCA-CN 22 20795757 20795757 single base substitution C T downstream_gene_variant COCA-CN 22 20795757 20795757 single base substitution C T intron_variant COCA-CN 22 20804770 20804770 single base substitution C T intron_variant COCA-CN 22 20804770 20804770 single base substitution C T upstream_gene_variant COCA-CN 22 20806051 20806051 single base substitution C T downstream_gene_variant COCA-CN 22 20806051 20806051 single base substitution C T intron_variant COCA-CN 22 20811962 20811962 single base substitution G T downstream_gene_variant COCA-CN 22 20811962 20811962 single base substitution G T intron_variant COCA-CN 22 20812079 20812079 single base substitution T C exon_variant COCA-CN 22 20812079 20812079 single base substitution T C intron_variant COCA-CN 22 20819490 20819490 single base substitution C T downstream_gene_variant COCA-CN 22 20819490 20819490 single base substitution C T exon_variant COCA-CN 22 20819490 20819490 single base substitution C T intron_variant COCA-CN 22 20819490 20819490 single base substitution C T missense_variant R113Q 338G>A COCA-CN 22 20819490 20819490 single base substitution C T missense_variant R179Q 536G>A COCA-CN 22 20819490 20819490 single base substitution C T missense_variant R256Q 767G>A COCA-CN 22 20819490 20819490 single base substitution C T missense_variant R288Q 863G>A COCA-CN 22 20819517 20819517 single base substitution G A downstream_gene_variant COCA-CN 22 20819517 20819517 single base substitution G A exon_variant COCA-CN 22 20819517 20819517 single base substitution G A intron_variant COCA-CN 22 20819517 20819517 single base substitution G A missense_variant P104L 311C>T COCA-CN 22 20819517 20819517 single base substitution G A missense_variant P170L 509C>T COCA-CN 22 20819517 20819517 single base substitution G A missense_variant P247L 740C>T COCA-CN 22 20819517 20819517 single base substitution G A missense_variant P279L 836C>T COCA-CN 22 20837963 20837963 single base substitution G A downstream_gene_variant COCA-CN 22 20837963 20837963 single base substitution G A exon_variant COCA-CN 22 20837963 20837963 single base substitution G A intron_variant COCA-CN 22 20838055 20838055 single base substitution T C downstream_gene_variant COCA-CN 22 20838055 20838055 single base substitution T C exon_variant COCA-CN 22 20838055 20838055 single base substitution T C intron_variant COCA-CN 22 20838199 20838199 single base substitution G A downstream_gene_variant COCA-CN 22 20838199 20838199 single base substitution G A exon_variant COCA-CN 22 20838199 20838199 single base substitution G A intron_variant COCA-CN 22 20843994 20843994 single base substitution C T intron_variant EOPC-DE 22 20850948 20850948 single base substitution A C upstream_gene_variant ESAD-UK 22 20782138 20782138 single base substitution C T downstream_gene_variant ESAD-UK 22 20782498 20782509 deletion of <=200bp CCTCCCTCCCTC - downstream_gene_variant ESAD-UK 22 20783676 20783676 deletion of <=200bp G - intron_variant ESAD-UK 22 20784209 20784209 single base substitution T C intron_variant ESAD-UK 22 20786971 20786971 single base substitution G C intron_variant ESAD-UK 22 20788480 20788480 single base substitution T C intron_variant ESAD-UK 22 20791070 20791070 deletion of <=200bp C - downstream_gene_variant ESAD-UK 22 20791070 20791070 deletion of <=200bp C - intron_variant ESAD-UK 22 20792476 20792476 single base substitution C T downstream_gene_variant ESAD-UK 22 20792476 20792476 single base substitution C T intron_variant ESAD-UK 22 20793509 20793509 single base substitution C T downstream_gene_variant ESAD-UK 22 20793509 20793509 single base substitution C T intron_variant ESAD-UK 22 20794917 20794917 single base substitution A C downstream_gene_variant ESAD-UK 22 20794917 20794917 single base substitution A C intron_variant ESAD-UK 22 20796043 20796043 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 20796043 20796043 single base substitution C T intron_variant ESAD-UK 22 20800158 20800158 single base substitution C T intron_variant ESAD-UK 22 20801961 20801961 single base substitution C T intron_variant ESAD-UK 22 20801961 20801961 single base substitution C T upstream_gene_variant ESAD-UK 22 20807541 20807541 single base substitution C T downstream_gene_variant ESAD-UK 22 20807541 20807541 single base substitution C T intron_variant ESAD-UK 22 20809214 20809214 single base substitution G A downstream_gene_variant ESAD-UK 22 20809214 20809214 single base substitution G A intron_variant ESAD-UK 22 20811372 20811372 single base substitution A C downstream_gene_variant ESAD-UK 22 20811372 20811372 single base substitution A C intron_variant ESAD-UK 22 20812147 20812147 single base substitution C T exon_variant ESAD-UK 22 20812147 20812147 single base substitution C T missense_variant R275H 824G>A ESAD-UK 22 20812147 20812147 single base substitution C T missense_variant R418H 1253G>A ESAD-UK 22 20812476 20812476 single base substitution T A intron_variant ESAD-UK 22 20814662 20814662 single base substitution G A downstream_gene_variant ESAD-UK 22 20814662 20814662 single base substitution G A intron_variant ESAD-UK 22 20815973 20815973 single base substitution C T downstream_gene_variant ESAD-UK 22 20815973 20815973 single base substitution C T intron_variant ESAD-UK 22 20819190 20819190 single base substitution C T downstream_gene_variant ESAD-UK 22 20819190 20819190 single base substitution C T exon_variant ESAD-UK 22 20819190 20819190 single base substitution C T intron_variant ESAD-UK 22 20819190 20819190 single base substitution C T missense_variant G213E 638G>A ESAD-UK 22 20819190 20819190 single base substitution C T missense_variant G356E 1067G>A ESAD-UK 22 20819760 20819760 single base substitution C A downstream_gene_variant ESAD-UK 22 20819760 20819760 single base substitution C A exon_variant ESAD-UK 22 20819760 20819760 single base substitution C A missense_variant R166L 497G>T ESAD-UK 22 20819760 20819760 single base substitution C A missense_variant R198L 593G>T ESAD-UK 22 20819760 20819760 single base substitution C A missense_variant R200L 599G>T ESAD-UK 22 20819760 20819760 single base substitution C A missense_variant R23L 68G>T ESAD-UK 22 20819760 20819760 single base substitution C A missense_variant R89L 266G>T ESAD-UK 22 20826442 20826444 deletion of <=200bp AAG - intron_variant ESAD-UK 22 20828310 20828310 single base substitution G A intron_variant ESAD-UK 22 20828764 20828764 single base substitution C T intron_variant ESAD-UK 22 20830386 20830386 deletion of <=200bp C - intron_variant ESAD-UK 22 20831461 20831461 single base substitution C T intron_variant ESAD-UK 22 20833605 20833605 single base substitution G A downstream_gene_variant ESAD-UK 22 20833605 20833605 single base substitution G A intron_variant ESAD-UK 22 20839504 20839504 single base substitution G A downstream_gene_variant ESAD-UK 22 20839504 20839504 single base substitution G A intron_variant ESAD-UK 22 20839768 20839768 single base substitution C T downstream_gene_variant ESAD-UK 22 20839768 20839768 single base substitution C T intron_variant ESAD-UK 22 20839922 20839922 single base substitution A T downstream_gene_variant ESAD-UK 22 20839922 20839922 single base substitution A T intron_variant ESAD-UK 22 20840564 20840564 single base substitution C T downstream_gene_variant ESAD-UK 22 20840564 20840564 single base substitution C T intron_variant ESAD-UK 22 20843306 20843306 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 22 20843306 20843306 single base substitution G A exon_variant ESAD-UK 22 20843306 20843306 single base substitution G A intron_variant ESAD-UK 22 20843306 20843306 single base substitution G A missense_variant R65C 193C>T ESAD-UK 22 20843306 20843306 single base substitution G A missense_variant R97C 289C>T ESAD-UK 22 20843306 20843306 single base substitution G A missense_variant R99C 295C>T ESAD-UK 22 20848440 20848440 single base substitution C T intron_variant ESAD-UK 22 20848440 20848440 single base substitution C T upstream_gene_variant ESAD-UK 22 20850076 20850076 single base substitution C G 5_prime_UTR_variant ESAD-UK 22 20850076 20850076 single base substitution C G exon_variant ESAD-UK 22 20850076 20850076 single base substitution C G upstream_gene_variant ESAD-UK 22 20852717 20852717 single base substitution T A upstream_gene_variant GBM-US 22 20784714 20784714 single base substitution A C splice_donor_variant GBM-US 22 20819524 20819524 single base substitution G A downstream_gene_variant GBM-US 22 20819524 20819524 single base substitution G A exon_variant GBM-US 22 20819524 20819524 single base substitution G A intron_variant GBM-US 22 20819524 20819524 single base substitution G A missense_variant R102W 304C>T GBM-US 22 20819524 20819524 single base substitution G A missense_variant R168W 502C>T GBM-US 22 20819524 20819524 single base substitution G A missense_variant R245W 733C>T GBM-US 22 20819524 20819524 single base substitution G A missense_variant R277W 829C>T KIRC-US 22 20783904 20783904 single base substitution G A 3_prime_UTR_variant KIRC-US 22 20843449 20843449 single base substitution G T 5_prime_UTR_variant KIRC-US 22 20843449 20843449 single base substitution G T exon_variant KIRC-US 22 20843449 20843449 single base substitution G T intron_variant KIRC-US 22 20843449 20843449 single base substitution G T missense_variant P17H 50C>A KIRC-US 22 20843449 20843449 single base substitution G T missense_variant P49H 146C>A KIRC-US 22 20843449 20843449 single base substitution G T missense_variant P51H 152C>A KIRP-US 22 20791897 20791897 single base substitution G T downstream_gene_variant KIRP-US 22 20791897 20791897 single base substitution G T intron_variant KIRP-US 22 20796432 20796432 single base substitution G C intron_variant KIRP-US 22 20796432 20796432 single base substitution G C synonymous_variant A468A 1404C>G KIRP-US 22 20796432 20796432 single base substitution G C synonymous_variant A611A 1833C>G LAML-KR 22 20798060 20798060 single base substitution G C intron_variant LAML-KR 22 20800835 20800835 single base substitution A G exon_variant LAML-KR 22 20800835 20800835 single base substitution A G synonymous_variant D335D 1005T>C LAML-KR 22 20800835 20800835 single base substitution A G synonymous_variant D478D 1434T>C LAML-KR 22 20805369 20805369 single base substitution T G intron_variant LAML-KR 22 20805369 20805369 single base substitution T G upstream_gene_variant LAML-KR 22 20805686 20805686 single base substitution A G downstream_gene_variant LAML-KR 22 20805686 20805686 single base substitution A G intron_variant LAML-KR 22 20805686 20805686 single base substitution A G upstream_gene_variant LAML-KR 22 20825010 20825010 single base substitution G C intron_variant LAML-KR 22 20838229 20838229 single base substitution T C downstream_gene_variant LAML-KR 22 20838229 20838229 single base substitution T C exon_variant LAML-KR 22 20838229 20838229 single base substitution T C intron_variant LAML-KR 22 20841337 20841337 single base substitution A G downstream_gene_variant LAML-KR 22 20841337 20841337 single base substitution A G intron_variant LICA-CN 22 20785428 20785428 single base substitution C A intron_variant LICA-CN 22 20796507 20796507 single base substitution C A intron_variant LICA-CN 22 20796507 20796507 single base substitution C A synonymous_variant L443L 1329G>T LICA-CN 22 20796507 20796507 single base substitution C A synonymous_variant L586L 1758G>T LICA-CN 22 20819706 20819706 single base substitution C T downstream_gene_variant LICA-CN 22 20819706 20819706 single base substitution C T exon_variant LICA-CN 22 20819706 20819706 single base substitution C T missense_variant R107Q 320G>A LICA-CN 22 20819706 20819706 single base substitution C T missense_variant R184Q 551G>A LICA-CN 22 20819706 20819706 single base substitution C T missense_variant R216Q 647G>A LICA-CN 22 20819706 20819706 single base substitution C T missense_variant R218Q 653G>A LICA-CN 22 20819706 20819706 single base substitution C T missense_variant R41Q 122G>A LICA-FR 22 20780203 20780203 single base substitution C T downstream_gene_variant LICA-FR 22 20785681 20785681 single base substitution G C intron_variant LICA-FR 22 20798825 20798825 single base substitution A G intron_variant LICA-FR 22 20814777 20814777 single base substitution T C downstream_gene_variant LICA-FR 22 20814777 20814777 single base substitution T C intron_variant LICA-FR 22 20819402 20819402 single base substitution G A downstream_gene_variant LICA-FR 22 20819402 20819402 single base substitution G A exon_variant LICA-FR 22 20819402 20819402 single base substitution G A intron_variant LICA-FR 22 20819402 20819402 single base substitution G A synonymous_variant S142S 426C>T LICA-FR 22 20819402 20819402 single base substitution G A synonymous_variant S208S 624C>T LICA-FR 22 20819402 20819402 single base substitution G A synonymous_variant S285S 855C>T LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - exon_variant LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - frameshift_variant LCRSQKLSISA145 LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - frameshift_variant QIPEIIHFCC132 LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - frameshift_variant QIPEIIHFCC164 LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - frameshift_variant QIPEIIHFCC166 LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - frameshift_variant QIPEIIHFCC55 LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - splice_acceptor_variant LICA-FR 22 20819839 20819869 deletion of <=200bp AGCAGAAATGGATAATTTCTGGGATCTGCAG - upstream_gene_variant LICA-FR 22 20824998 20824998 single base substitution G C intron_variant LICA-FR 22 20825010 20825010 single base substitution G C intron_variant LICA-FR 22 20837959 20837959 single base substitution C A downstream_gene_variant LICA-FR 22 20837959 20837959 single base substitution C A exon_variant LICA-FR 22 20837959 20837959 single base substitution C A intron_variant LICA-FR 22 20846882 20846882 deletion of <=200bp T - intron_variant LICA-FR 22 20846882 20846882 deletion of <=200bp T - upstream_gene_variant LICA-FR 22 20848372 20848372 single base substitution A C intron_variant LICA-FR 22 20848372 20848372 single base substitution A C upstream_gene_variant LIHC-US 22 20784723 20784723 single base substitution C T 3_prime_UTR_variant LIHC-US 22 20843480 20843480 single base substitution A G 5_prime_UTR_variant LIHC-US 22 20843480 20843480 single base substitution A G exon_variant LIHC-US 22 20843480 20843480 single base substitution A G intron_variant LIHC-US 22 20843480 20843480 single base substitution A G missense_variant F39L 115T>C LIHC-US 22 20843480 20843480 single base substitution A G missense_variant F41L 121T>C LIHC-US 22 20843480 20843480 single base substitution A G missense_variant F7L 19T>C LINC-JP 22 20783590 20783590 single base substitution G C 3_prime_UTR_variant LINC-JP 22 20783638 20783638 single base substitution G A 3_prime_UTR_variant LINC-JP 22 20804978 20804978 single base substitution C A intron_variant LINC-JP 22 20804978 20804978 single base substitution C A upstream_gene_variant LINC-JP 22 20809756 20809756 single base substitution T A downstream_gene_variant LINC-JP 22 20809756 20809756 single base substitution T A intron_variant LINC-JP 22 20810045 20810045 single base substitution T C downstream_gene_variant LINC-JP 22 20810045 20810045 single base substitution T C intron_variant LINC-JP 22 20819701 20819701 single base substitution C T downstream_gene_variant LINC-JP 22 20819701 20819701 single base substitution C T exon_variant LINC-JP 22 20819701 20819701 single base substitution C T missense_variant D109N 325G>A LINC-JP 22 20819701 20819701 single base substitution C T missense_variant D186N 556G>A LINC-JP 22 20819701 20819701 single base substitution C T missense_variant D218N 652G>A LINC-JP 22 20819701 20819701 single base substitution C T missense_variant D220N 658G>A LINC-JP 22 20819701 20819701 single base substitution C T missense_variant D43N 127G>A LINC-JP 22 20828799 20828799 single base substitution C T intron_variant LINC-JP 22 20830344 20830344 single base substitution G C intron_variant LINC-JP 22 20843282 20843282 single base substitution C A 5_prime_UTR_variant LINC-JP 22 20843282 20843282 single base substitution C A exon_variant LINC-JP 22 20843282 20843282 single base substitution C A intron_variant LINC-JP 22 20843282 20843282 single base substitution C A missense_variant D105Y 313G>T LINC-JP 22 20843282 20843282 single base substitution C A missense_variant D107Y 319G>T LINC-JP 22 20843282 20843282 single base substitution C A missense_variant D73Y 217G>T LINC-JP 22 20853823 20853823 single base substitution A C upstream_gene_variant LIRI-JP 22 20779491 20779491 single base substitution A G downstream_gene_variant LIRI-JP 22 20784389 20784389 single base substitution C A intron_variant LIRI-JP 22 20788884 20788884 single base substitution G T intron_variant LIRI-JP 22 20793875 20793875 single base substitution T C downstream_gene_variant LIRI-JP 22 20793875 20793875 single base substitution T C intron_variant LIRI-JP 22 20798406 20798406 single base substitution C T intron_variant LIRI-JP 22 20800951 20800951 single base substitution C T missense_variant A297T 889G>A LIRI-JP 22 20800951 20800951 single base substitution C T missense_variant A440T 1318G>A LIRI-JP 22 20800951 20800951 single base substitution C T upstream_gene_variant LIRI-JP 22 20801067 20801067 single base substitution G A intron_variant LIRI-JP 22 20801067 20801067 single base substitution G A upstream_gene_variant LIRI-JP 22 20804758 20804758 single base substitution G A intron_variant LIRI-JP 22 20804758 20804758 single base substitution G A upstream_gene_variant LIRI-JP 22 20808511 20808511 single base substitution G T downstream_gene_variant LIRI-JP 22 20808511 20808511 single base substitution G T intron_variant LIRI-JP 22 20810458 20810458 single base substitution C A downstream_gene_variant LIRI-JP 22 20810458 20810458 single base substitution C A intron_variant LIRI-JP 22 20813860 20813860 single base substitution A G intron_variant LIRI-JP 22 20819376 20819376 single base substitution C T downstream_gene_variant LIRI-JP 22 20819376 20819376 single base substitution C T exon_variant LIRI-JP 22 20819376 20819376 single base substitution C T intron_variant LIRI-JP 22 20819376 20819376 single base substitution C T missense_variant R151Q 452G>A LIRI-JP 22 20819376 20819376 single base substitution C T missense_variant R217Q 650G>A LIRI-JP 22 20819376 20819376 single base substitution C T missense_variant R294Q 881G>A LIRI-JP 22 20821420 20821420 single base substitution T A intron_variant LIRI-JP 22 20821420 20821420 single base substitution T A upstream_gene_variant LIRI-JP 22 20821969 20821969 single base substitution G A intron_variant LIRI-JP 22 20821969 20821969 single base substitution G A upstream_gene_variant LIRI-JP 22 20822813 20822813 single base substitution G C intron_variant LIRI-JP 22 20822813 20822813 single base substitution G C upstream_gene_variant LIRI-JP 22 20822915 20822915 single base substitution G A intron_variant LIRI-JP 22 20822915 20822915 single base substitution G A upstream_gene_variant LIRI-JP 22 20823973 20823973 single base substitution G C intron_variant LIRI-JP 22 20823973 20823973 single base substitution G C upstream_gene_variant LIRI-JP 22 20828093 20828093 single base substitution C T intron_variant LIRI-JP 22 20828575 20828575 single base substitution T C intron_variant LIRI-JP 22 20829616 20829616 single base substitution T C intron_variant LIRI-JP 22 20830210 20830210 single base substitution C T intron_variant LIRI-JP 22 20830350 20830350 single base substitution T C intron_variant LIRI-JP 22 20831992 20831992 single base substitution C T intron_variant LIRI-JP 22 20832190 20832190 single base substitution T C intron_variant LIRI-JP 22 20832196 20832196 single base substitution G A intron_variant LIRI-JP 22 20832432 20832432 single base substitution A G intron_variant LIRI-JP 22 20833438 20833438 single base substitution G T downstream_gene_variant LIRI-JP 22 20833438 20833438 single base substitution G T intron_variant LIRI-JP 22 20833599 20833599 single base substitution A C downstream_gene_variant LIRI-JP 22 20833599 20833599 single base substitution A C intron_variant LIRI-JP 22 20837201 20837201 single base substitution G T downstream_gene_variant LIRI-JP 22 20837201 20837201 single base substitution G T intron_variant LIRI-JP 22 20837848 20837848 single base substitution T C downstream_gene_variant LIRI-JP 22 20837848 20837848 single base substitution T C intron_variant LIRI-JP 22 20840364 20840364 single base substitution A G downstream_gene_variant LIRI-JP 22 20840364 20840364 single base substitution A G intron_variant LIRI-JP 22 20842061 20842061 single base substitution G A downstream_gene_variant LIRI-JP 22 20842061 20842061 single base substitution G A intron_variant LIRI-JP 22 20844117 20844117 single base substitution T C intron_variant LIRI-JP 22 20844117 20844117 single base substitution T C start_lost M1V 1A>G LIRI-JP 22 20845993 20845993 single base substitution A C intron_variant LIRI-JP 22 20845993 20845993 single base substitution A C upstream_gene_variant LIRI-JP 22 20853044 20853044 deletion of <=200bp G - upstream_gene_variant LIRI-JP 22 20853800 20853800 single base substitution C T upstream_gene_variant LUSC-KR 22 20778719 20778719 single base substitution C A downstream_gene_variant LUSC-KR 22 20779627 20779627 single base substitution G C downstream_gene_variant LUSC-KR 22 20783485 20783485 single base substitution C A downstream_gene_variant LUSC-KR 22 20787516 20787516 single base substitution G C intron_variant LUSC-KR 22 20793313 20793313 single base substitution G C downstream_gene_variant LUSC-KR 22 20793313 20793313 single base substitution G C intron_variant LUSC-KR 22 20798369 20798369 single base substitution T G intron_variant LUSC-KR 22 20799679 20799679 single base substitution G C intron_variant LUSC-KR 22 20800225 20800225 single base substitution T G intron_variant LUSC-KR 22 20800835 20800835 single base substitution A G exon_variant LUSC-KR 22 20800835 20800835 single base substitution A G synonymous_variant D335D 1005T>C LUSC-KR 22 20800835 20800835 single base substitution A G synonymous_variant D478D 1434T>C LUSC-KR 22 20803178 20803178 single base substitution T A intron_variant LUSC-KR 22 20803178 20803178 single base substitution T A upstream_gene_variant LUSC-KR 22 20805020 20805020 single base substitution C A intron_variant LUSC-KR 22 20805020 20805020 single base substitution C A upstream_gene_variant LUSC-KR 22 20805536 20805536 single base substitution G A downstream_gene_variant LUSC-KR 22 20805536 20805536 single base substitution G A intron_variant LUSC-KR 22 20805536 20805536 single base substitution G A upstream_gene_variant LUSC-KR 22 20807631 20807631 single base substitution T A downstream_gene_variant LUSC-KR 22 20807631 20807631 single base substitution T A intron_variant LUSC-KR 22 20808883 20808883 single base substitution C G downstream_gene_variant LUSC-KR 22 20808883 20808883 single base substitution C G intron_variant LUSC-KR 22 20813393 20813393 single base substitution A T intron_variant LUSC-KR 22 20813754 20813754 single base substitution C T intron_variant LUSC-KR 22 20816141 20816141 single base substitution T C downstream_gene_variant LUSC-KR 22 20816141 20816141 single base substitution T C intron_variant LUSC-KR 22 20818206 20818206 single base substitution C A downstream_gene_variant LUSC-KR 22 20818206 20818206 single base substitution C A intron_variant LUSC-KR 22 20821521 20821521 single base substitution G A intron_variant LUSC-KR 22 20821521 20821521 single base substitution G A upstream_gene_variant LUSC-KR 22 20822619 20822619 single base substitution C G intron_variant LUSC-KR 22 20822619 20822619 single base substitution C G upstream_gene_variant LUSC-KR 22 20825002 20825002 single base substitution C G intron_variant LUSC-KR 22 20825010 20825010 single base substitution G C intron_variant LUSC-KR 22 20825058 20825058 single base substitution C G intron_variant LUSC-KR 22 20825077 20825077 single base substitution G A intron_variant LUSC-KR 22 20825118 20825118 single base substitution C G intron_variant LUSC-KR 22 20839355 20839355 single base substitution T A downstream_gene_variant LUSC-KR 22 20839355 20839355 single base substitution T A intron_variant LUSC-KR 22 20840575 20840575 single base substitution G A downstream_gene_variant LUSC-KR 22 20840575 20840575 single base substitution G A intron_variant LUSC-KR 22 20842979 20842979 single base substitution G T downstream_gene_variant LUSC-KR 22 20842979 20842979 single base substitution G T exon_variant LUSC-KR 22 20842979 20842979 single base substitution G T intron_variant LUSC-KR 22 20846315 20846315 single base substitution G A exon_variant LUSC-KR 22 20846315 20846315 single base substitution G A intron_variant LUSC-KR 22 20846315 20846315 single base substitution G A upstream_gene_variant LUSC-KR 22 20848372 20848372 single base substitution A C intron_variant LUSC-KR 22 20848372 20848372 single base substitution A C upstream_gene_variant LUSC-KR 22 20852234 20852234 single base substitution G C upstream_gene_variant LUSC-US 22 20780198 20780198 single base substitution C T downstream_gene_variant LUSC-US 22 20812204 20812204 single base substitution C A exon_variant LUSC-US 22 20812204 20812204 single base substitution C A missense_variant R256M 767G>T LUSC-US 22 20812204 20812204 single base substitution C A missense_variant R399M 1196G>T LUSC-US 22 20819555 20819555 single base substitution C A downstream_gene_variant LUSC-US 22 20819555 20819555 single base substitution C A exon_variant LUSC-US 22 20819555 20819555 single base substitution C A intron_variant LUSC-US 22 20819555 20819555 single base substitution C A synonymous_variant L157L 471G>T LUSC-US 22 20819555 20819555 single base substitution C A synonymous_variant L234L 702G>T LUSC-US 22 20819555 20819555 single base substitution C A synonymous_variant L266L 798G>T LUSC-US 22 20819555 20819555 single base substitution C A synonymous_variant L91L 273G>T LUSC-US 22 20819559 20819559 single base substitution G T downstream_gene_variant LUSC-US 22 20819559 20819559 single base substitution G T exon_variant LUSC-US 22 20819559 20819559 single base substitution G T intron_variant LUSC-US 22 20819559 20819559 single base substitution G T stop_gained S156* 467C>A LUSC-US 22 20819559 20819559 single base substitution G T stop_gained S233* 698C>A LUSC-US 22 20819559 20819559 single base substitution G T stop_gained S265* 794C>A LUSC-US 22 20819559 20819559 single base substitution G T stop_gained S90* 269C>A LUSC-US 22 20819581 20819581 single base substitution G A downstream_gene_variant LUSC-US 22 20819581 20819581 single base substitution G A exon_variant LUSC-US 22 20819581 20819581 single base substitution G A intron_variant LUSC-US 22 20819581 20819581 single base substitution G A stop_gained Q149* 445C>T LUSC-US 22 20819581 20819581 single base substitution G A stop_gained Q226* 676C>T LUSC-US 22 20819581 20819581 single base substitution G A stop_gained Q258* 772C>T LUSC-US 22 20819581 20819581 single base substitution G A stop_gained Q83* 247C>T LUSC-US 22 20819605 20819605 single base substitution G T downstream_gene_variant LUSC-US 22 20819605 20819605 single base substitution G T exon_variant LUSC-US 22 20819605 20819605 single base substitution G T intron_variant LUSC-US 22 20819605 20819605 single base substitution G T missense_variant L141I 421C>A LUSC-US 22 20819605 20819605 single base substitution G T missense_variant L218I 652C>A LUSC-US 22 20819605 20819605 single base substitution G T missense_variant L250I 748C>A LUSC-US 22 20819605 20819605 single base substitution G T missense_variant L75I 223C>A LUSC-US 22 20819605 20819605 single base substitution G T synonymous_variant ?252 LUSC-US 22 20819760 20819760 single base substitution C T downstream_gene_variant LUSC-US 22 20819760 20819760 single base substitution C T exon_variant LUSC-US 22 20819760 20819760 single base substitution C T missense_variant R166H 497G>A LUSC-US 22 20819760 20819760 single base substitution C T missense_variant R198H 593G>A LUSC-US 22 20819760 20819760 single base substitution C T missense_variant R200H 599G>A LUSC-US 22 20819760 20819760 single base substitution C T missense_variant R23H 68G>A LUSC-US 22 20819760 20819760 single base substitution C T missense_variant R89H 266G>A MALY-DE 22 20788601 20788604 deletion of <=200bp GAGA - intron_variant MALY-DE 22 20789251 20789251 single base substitution C T intron_variant MALY-DE 22 20793369 20793369 single base substitution C T downstream_gene_variant MALY-DE 22 20793369 20793369 single base substitution C T intron_variant MALY-DE 22 20796420 20796420 single base substitution A G intron_variant MALY-DE 22 20796420 20796420 single base substitution A G synonymous_variant F472F 1416T>C MALY-DE 22 20796420 20796420 single base substitution A G synonymous_variant F615F 1845T>C MALY-DE 22 20809855 20809855 single base substitution A C downstream_gene_variant MALY-DE 22 20809855 20809855 single base substitution A C intron_variant MALY-DE 22 20817843 20817843 single base substitution T C downstream_gene_variant MALY-DE 22 20817843 20817843 single base substitution T C intron_variant MALY-DE 22 20818631 20818631 single base substitution C A downstream_gene_variant MALY-DE 22 20818631 20818631 single base substitution C A intron_variant MALY-DE 22 20846081 20846081 single base substitution A C intron_variant MALY-DE 22 20846081 20846081 single base substitution A C upstream_gene_variant MALY-DE 22 20849026 20849026 single base substitution G A intron_variant MALY-DE 22 20849026 20849026 single base substitution G A upstream_gene_variant MALY-DE 22 20849232 20849232 single base substitution T G intron_variant MALY-DE 22 20849232 20849232 single base substitution T G upstream_gene_variant MELA-AU 22 20778946 20778946 single base substitution G A downstream_gene_variant MELA-AU 22 20779108 20779108 single base substitution G A downstream_gene_variant MELA-AU 22 20779213 20779213 single base substitution G A downstream_gene_variant MELA-AU 22 20779263 20779263 single base substitution G A downstream_gene_variant MELA-AU 22 20779871 20779871 single base substitution G A downstream_gene_variant MELA-AU 22 20781923 20781924 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 20781983 20781983 single base substitution C G downstream_gene_variant MELA-AU 22 20782428 20782428 single base substitution G A downstream_gene_variant MELA-AU 22 20782624 20782624 single base substitution G A downstream_gene_variant MELA-AU 22 20783184 20783184 single base substitution G T downstream_gene_variant MELA-AU 22 20783226 20783226 single base substitution C T downstream_gene_variant MELA-AU 22 20784213 20784213 single base substitution G A intron_variant MELA-AU 22 20784255 20784256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20784312 20784312 single base substitution G A intron_variant MELA-AU 22 20784396 20784397 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20784406 20784406 single base substitution G A intron_variant MELA-AU 22 20784556 20784556 single base substitution G A intron_variant MELA-AU 22 20784661 20784661 single base substitution C T intron_variant MELA-AU 22 20786634 20786634 single base substitution G A intron_variant MELA-AU 22 20788228 20788228 single base substitution G A intron_variant MELA-AU 22 20788619 20788619 single base substitution G A intron_variant MELA-AU 22 20789775 20789775 single base substitution G A intron_variant MELA-AU 22 20789845 20789845 single base substitution C T intron_variant MELA-AU 22 20790510 20790510 single base substitution G A intron_variant MELA-AU 22 20792385 20792385 single base substitution C T downstream_gene_variant MELA-AU 22 20792385 20792385 single base substitution C T intron_variant MELA-AU 22 20793017 20793017 single base substitution G A downstream_gene_variant MELA-AU 22 20793017 20793017 single base substitution G A intron_variant MELA-AU 22 20794033 20794033 single base substitution G A downstream_gene_variant MELA-AU 22 20794033 20794033 single base substitution G A intron_variant MELA-AU 22 20794704 20794704 single base substitution C T downstream_gene_variant MELA-AU 22 20794704 20794704 single base substitution C T intron_variant MELA-AU 22 20795033 20795033 single base substitution G A downstream_gene_variant MELA-AU 22 20795033 20795033 single base substitution G A intron_variant MELA-AU 22 20795035 20795035 single base substitution G A downstream_gene_variant MELA-AU 22 20795035 20795035 single base substitution G A intron_variant MELA-AU 22 20795222 20795222 single base substitution C T downstream_gene_variant MELA-AU 22 20795222 20795222 single base substitution C T intron_variant MELA-AU 22 20795858 20795858 single base substitution G A 3_prime_UTR_variant MELA-AU 22 20795858 20795858 single base substitution G A downstream_gene_variant MELA-AU 22 20795858 20795858 single base substitution G A intron_variant MELA-AU 22 20796057 20796057 single base substitution G A 3_prime_UTR_variant MELA-AU 22 20796057 20796057 single base substitution G A intron_variant MELA-AU 22 20796428 20796428 single base substitution G A intron_variant MELA-AU 22 20796428 20796428 single base substitution G A missense_variant P470S 1408C>T MELA-AU 22 20796428 20796428 single base substitution G A missense_variant P613S 1837C>T MELA-AU 22 20796703 20796703 single base substitution G A intron_variant MELA-AU 22 20796703 20796703 single base substitution G A missense_variant S378F 1133C>T MELA-AU 22 20796703 20796703 single base substitution G A missense_variant S521F 1562C>T MELA-AU 22 20797291 20797291 single base substitution G A intron_variant MELA-AU 22 20797711 20797711 single base substitution C T intron_variant MELA-AU 22 20797845 20797845 single base substitution G A intron_variant MELA-AU 22 20799050 20799050 single base substitution G A intron_variant MELA-AU 22 20799195 20799195 single base substitution A G intron_variant MELA-AU 22 20799342 20799342 single base substitution G A intron_variant MELA-AU 22 20799837 20799837 single base substitution C T intron_variant MELA-AU 22 20800909 20800909 single base substitution G A missense_variant R311C 931C>T MELA-AU 22 20800909 20800909 single base substitution G A missense_variant R454C 1360C>T MELA-AU 22 20800909 20800909 single base substitution G A upstream_gene_variant MELA-AU 22 20800916 20800916 single base substitution G A synonymous_variant T308T 924C>T MELA-AU 22 20800916 20800916 single base substitution G A synonymous_variant T451T 1353C>T MELA-AU 22 20800916 20800916 single base substitution G A upstream_gene_variant MELA-AU 22 20801115 20801115 single base substitution G A intron_variant MELA-AU 22 20801115 20801115 single base substitution G A upstream_gene_variant MELA-AU 22 20801126 20801126 single base substitution G A intron_variant MELA-AU 22 20801126 20801126 single base substitution G A upstream_gene_variant MELA-AU 22 20801309 20801309 single base substitution G T intron_variant MELA-AU 22 20801309 20801309 single base substitution G T upstream_gene_variant MELA-AU 22 20801310 20801310 single base substitution A T intron_variant MELA-AU 22 20801310 20801310 single base substitution A T upstream_gene_variant MELA-AU 22 20801749 20801749 single base substitution G A intron_variant MELA-AU 22 20801749 20801749 single base substitution G A upstream_gene_variant MELA-AU 22 20801749 20801750 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 22 20801749 20801750 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 22 20802362 20802362 single base substitution A G intron_variant MELA-AU 22 20802362 20802362 single base substitution A G upstream_gene_variant MELA-AU 22 20803228 20803228 single base substitution T A intron_variant MELA-AU 22 20803228 20803228 single base substitution T A upstream_gene_variant MELA-AU 22 20803233 20803233 single base substitution G A intron_variant MELA-AU 22 20803233 20803233 single base substitution G A upstream_gene_variant MELA-AU 22 20803667 20803667 single base substitution G A intron_variant MELA-AU 22 20803667 20803667 single base substitution G A upstream_gene_variant MELA-AU 22 20803808 20803808 single base substitution C T intron_variant MELA-AU 22 20803808 20803808 single base substitution C T upstream_gene_variant MELA-AU 22 20803825 20803825 single base substitution T A intron_variant MELA-AU 22 20803825 20803825 single base substitution T A upstream_gene_variant MELA-AU 22 20804233 20804233 single base substitution G A intron_variant MELA-AU 22 20804233 20804233 single base substitution G A upstream_gene_variant MELA-AU 22 20804347 20804347 single base substitution G A intron_variant MELA-AU 22 20804347 20804347 single base substitution G A upstream_gene_variant MELA-AU 22 20804963 20804963 single base substitution G A intron_variant MELA-AU 22 20804963 20804963 single base substitution G A upstream_gene_variant MELA-AU 22 20805265 20805265 single base substitution G A intron_variant MELA-AU 22 20805265 20805265 single base substitution G A upstream_gene_variant MELA-AU 22 20805652 20805653 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 20805652 20805653 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20805652 20805653 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 20805836 20805836 single base substitution G A downstream_gene_variant MELA-AU 22 20805836 20805836 single base substitution G A intron_variant MELA-AU 22 20805836 20805836 single base substitution G A upstream_gene_variant MELA-AU 22 20806216 20806216 single base substitution G A downstream_gene_variant MELA-AU 22 20806216 20806216 single base substitution G A intron_variant MELA-AU 22 20806659 20806659 single base substitution G A downstream_gene_variant MELA-AU 22 20806659 20806659 single base substitution G A intron_variant MELA-AU 22 20808109 20808110 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 20808109 20808110 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 20809069 20809069 single base substitution G A downstream_gene_variant MELA-AU 22 20809069 20809069 single base substitution G A intron_variant MELA-AU 22 20809353 20809353 single base substitution G A downstream_gene_variant MELA-AU 22 20809353 20809353 single base substitution G A intron_variant MELA-AU 22 20809360 20809360 single base substitution G A downstream_gene_variant MELA-AU 22 20809360 20809360 single base substitution G A intron_variant MELA-AU 22 20809786 20809786 single base substitution G A downstream_gene_variant MELA-AU 22 20809786 20809786 single base substitution G A intron_variant MELA-AU 22 20810050 20810050 single base substitution G A downstream_gene_variant MELA-AU 22 20810050 20810050 single base substitution G A intron_variant MELA-AU 22 20811055 20811055 single base substitution G A downstream_gene_variant MELA-AU 22 20811055 20811055 single base substitution G A intron_variant MELA-AU 22 20811105 20811105 single base substitution T C downstream_gene_variant MELA-AU 22 20811105 20811105 single base substitution T C intron_variant MELA-AU 22 20811118 20811118 single base substitution G A downstream_gene_variant MELA-AU 22 20811118 20811118 single base substitution G A intron_variant MELA-AU 22 20811252 20811253 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 20811252 20811253 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20811304 20811304 single base substitution G A downstream_gene_variant MELA-AU 22 20811304 20811304 single base substitution G A intron_variant MELA-AU 22 20811354 20811355 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 20811354 20811355 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20811462 20811462 single base substitution G A downstream_gene_variant MELA-AU 22 20811462 20811462 single base substitution G A intron_variant MELA-AU 22 20811642 20811642 single base substitution G C downstream_gene_variant MELA-AU 22 20811642 20811642 single base substitution G C intron_variant MELA-AU 22 20812053 20812053 single base substitution G A downstream_gene_variant MELA-AU 22 20812053 20812053 single base substitution G A intron_variant MELA-AU 22 20813158 20813159 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20813381 20813381 single base substitution G T intron_variant MELA-AU 22 20813400 20813400 single base substitution G A intron_variant MELA-AU 22 20813636 20813636 single base substitution G A intron_variant MELA-AU 22 20814212 20814212 single base substitution G A intron_variant MELA-AU 22 20815819 20815819 single base substitution G A downstream_gene_variant MELA-AU 22 20815819 20815819 single base substitution G A intron_variant MELA-AU 22 20816719 20816719 single base substitution G A downstream_gene_variant MELA-AU 22 20816719 20816719 single base substitution G A intron_variant MELA-AU 22 20817450 20817450 single base substitution T A downstream_gene_variant MELA-AU 22 20817450 20817450 single base substitution T A intron_variant MELA-AU 22 20818354 20818354 single base substitution G A downstream_gene_variant MELA-AU 22 20818354 20818354 single base substitution G A intron_variant MELA-AU 22 20818644 20818644 single base substitution G A downstream_gene_variant MELA-AU 22 20818644 20818644 single base substitution G A intron_variant MELA-AU 22 20819167 20819167 single base substitution G A downstream_gene_variant MELA-AU 22 20819167 20819167 single base substitution G A exon_variant MELA-AU 22 20819167 20819167 single base substitution G A intron_variant MELA-AU 22 20819167 20819167 single base substitution G A stop_gained R221* 661C>T MELA-AU 22 20819167 20819167 single base substitution G A stop_gained R364* 1090C>T MELA-AU 22 20819207 20819207 single base substitution G A downstream_gene_variant MELA-AU 22 20819207 20819207 single base substitution G A exon_variant MELA-AU 22 20819207 20819207 single base substitution G A intron_variant MELA-AU 22 20819207 20819207 single base substitution G A synonymous_variant F207F 621C>T MELA-AU 22 20819207 20819207 single base substitution G A synonymous_variant F350F 1050C>T MELA-AU 22 20819329 20819329 single base substitution G A downstream_gene_variant MELA-AU 22 20819329 20819329 single base substitution G A exon_variant MELA-AU 22 20819329 20819329 single base substitution G A intron_variant MELA-AU 22 20819329 20819329 single base substitution G A missense_variant P167S 499C>T MELA-AU 22 20819329 20819329 single base substitution G A missense_variant P310S 928C>T MELA-AU 22 20819517 20819517 single base substitution G A downstream_gene_variant MELA-AU 22 20819517 20819517 single base substitution G A exon_variant MELA-AU 22 20819517 20819517 single base substitution G A intron_variant MELA-AU 22 20819517 20819517 single base substitution G A missense_variant P104L 311C>T MELA-AU 22 20819517 20819517 single base substitution G A missense_variant P170L 509C>T MELA-AU 22 20819517 20819517 single base substitution G A missense_variant P247L 740C>T MELA-AU 22 20819517 20819517 single base substitution G A missense_variant P279L 836C>T MELA-AU 22 20819798 20819798 single base substitution G A downstream_gene_variant MELA-AU 22 20819798 20819798 single base substitution G A exon_variant MELA-AU 22 20819798 20819798 single base substitution G A synonymous_variant L10L 30C>T MELA-AU 22 20819798 20819798 single base substitution G A synonymous_variant L153L 459C>T MELA-AU 22 20819798 20819798 single base substitution G A synonymous_variant L185L 555C>T MELA-AU 22 20819798 20819798 single base substitution G A synonymous_variant L187L 561C>T MELA-AU 22 20819798 20819798 single base substitution G A synonymous_variant L76L 228C>T MELA-AU 22 20819798 20819798 single base substitution G A upstream_gene_variant MELA-AU 22 20820025 20820025 single base substitution G A intron_variant MELA-AU 22 20820025 20820025 single base substitution G A upstream_gene_variant MELA-AU 22 20820052 20820053 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 22 20820052 20820053 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 22 20820280 20820280 single base substitution G A intron_variant MELA-AU 22 20820280 20820280 single base substitution G A upstream_gene_variant MELA-AU 22 20820473 20820473 single base substitution C T intron_variant MELA-AU 22 20820473 20820473 single base substitution C T upstream_gene_variant MELA-AU 22 20820629 20820629 single base substitution C T intron_variant MELA-AU 22 20820629 20820629 single base substitution C T upstream_gene_variant MELA-AU 22 20820638 20820638 single base substitution G A intron_variant MELA-AU 22 20820638 20820638 single base substitution G A upstream_gene_variant MELA-AU 22 20820923 20820923 single base substitution G A intron_variant MELA-AU 22 20820923 20820923 single base substitution G A upstream_gene_variant MELA-AU 22 20821209 20821209 single base substitution G A intron_variant MELA-AU 22 20821209 20821209 single base substitution G A upstream_gene_variant MELA-AU 22 20821295 20821295 single base substitution G A intron_variant MELA-AU 22 20821295 20821295 single base substitution G A upstream_gene_variant MELA-AU 22 20821498 20821498 single base substitution G A intron_variant MELA-AU 22 20821498 20821498 single base substitution G A upstream_gene_variant MELA-AU 22 20821567 20821567 single base substitution G A intron_variant MELA-AU 22 20821567 20821567 single base substitution G A upstream_gene_variant MELA-AU 22 20821836 20821836 single base substitution G T intron_variant MELA-AU 22 20821836 20821836 single base substitution G T upstream_gene_variant MELA-AU 22 20821870 20821870 single base substitution G A intron_variant MELA-AU 22 20821870 20821870 single base substitution G A upstream_gene_variant MELA-AU 22 20822009 20822009 single base substitution G A intron_variant MELA-AU 22 20822009 20822009 single base substitution G A upstream_gene_variant MELA-AU 22 20822244 20822244 single base substitution C G intron_variant MELA-AU 22 20822244 20822244 single base substitution C G upstream_gene_variant MELA-AU 22 20822488 20822534 deletion of <=200bp TTTCCTAAAATTCTGGTTTGTCATGGGCCAGGGTCCTGAAGACCAAG - intron_variant MELA-AU 22 20822488 20822534 deletion of <=200bp TTTCCTAAAATTCTGGTTTGTCATGGGCCAGGGTCCTGAAGACCAAG - upstream_gene_variant MELA-AU 22 20822722 20822723 multiple base substitution (>=2bp and <=200bp) GG GA intron_variant MELA-AU 22 20822722 20822723 multiple base substitution (>=2bp and <=200bp) GG GA upstream_gene_variant MELA-AU 22 20822723 20822723 single base substitution G A intron_variant MELA-AU 22 20822723 20822723 single base substitution G A upstream_gene_variant MELA-AU 22 20822855 20822855 single base substitution C G intron_variant MELA-AU 22 20822855 20822855 single base substitution C G upstream_gene_variant MELA-AU 22 20823309 20823309 single base substitution G A intron_variant MELA-AU 22 20823309 20823309 single base substitution G A upstream_gene_variant MELA-AU 22 20823850 20823850 single base substitution G A intron_variant MELA-AU 22 20823850 20823850 single base substitution G A upstream_gene_variant MELA-AU 22 20824341 20824341 single base substitution A C intron_variant MELA-AU 22 20824341 20824341 single base substitution A C upstream_gene_variant MELA-AU 22 20824539 20824539 single base substitution G A intron_variant MELA-AU 22 20824539 20824539 single base substitution G A upstream_gene_variant MELA-AU 22 20824548 20824550 deletion of <=200bp ACC - intron_variant MELA-AU 22 20824548 20824550 deletion of <=200bp ACC - upstream_gene_variant MELA-AU 22 20824998 20824998 single base substitution G C intron_variant MELA-AU 22 20825002 20825002 single base substitution C G intron_variant MELA-AU 22 20825006 20825006 single base substitution C G intron_variant MELA-AU 22 20825010 20825010 single base substitution G C intron_variant MELA-AU 22 20825158 20825158 single base substitution G A intron_variant MELA-AU 22 20826294 20826294 single base substitution G A intron_variant MELA-AU 22 20826488 20826488 single base substitution T A intron_variant MELA-AU 22 20826785 20826785 single base substitution G A intron_variant MELA-AU 22 20827328 20827328 single base substitution G A intron_variant MELA-AU 22 20827585 20827585 single base substitution G A intron_variant MELA-AU 22 20827642 20827642 single base substitution G A intron_variant MELA-AU 22 20829596 20829596 single base substitution A G intron_variant MELA-AU 22 20829759 20829759 single base substitution C T intron_variant MELA-AU 22 20830635 20830635 single base substitution G A intron_variant MELA-AU 22 20831099 20831099 single base substitution G A intron_variant MELA-AU 22 20832674 20832674 single base substitution A G intron_variant MELA-AU 22 20834497 20834497 single base substitution G A downstream_gene_variant MELA-AU 22 20834497 20834497 single base substitution G A intron_variant MELA-AU 22 20835678 20835678 single base substitution G A downstream_gene_variant MELA-AU 22 20835678 20835678 single base substitution G A intron_variant MELA-AU 22 20835853 20835853 single base substitution C T downstream_gene_variant MELA-AU 22 20835853 20835853 single base substitution C T intron_variant MELA-AU 22 20835905 20835905 single base substitution G A downstream_gene_variant MELA-AU 22 20835905 20835905 single base substitution G A intron_variant MELA-AU 22 20836884 20836884 single base substitution G A downstream_gene_variant MELA-AU 22 20836884 20836884 single base substitution G A intron_variant MELA-AU 22 20837480 20837480 single base substitution G A downstream_gene_variant MELA-AU 22 20837480 20837480 single base substitution G A intron_variant MELA-AU 22 20837650 20837650 single base substitution G A downstream_gene_variant MELA-AU 22 20837650 20837650 single base substitution G A intron_variant MELA-AU 22 20838114 20838114 single base substitution G A downstream_gene_variant MELA-AU 22 20838114 20838114 single base substitution G A exon_variant MELA-AU 22 20838114 20838114 single base substitution G A intron_variant MELA-AU 22 20838261 20838261 single base substitution G A downstream_gene_variant MELA-AU 22 20838261 20838261 single base substitution G A exon_variant MELA-AU 22 20838261 20838261 single base substitution G A intron_variant MELA-AU 22 20838361 20838361 single base substitution G A downstream_gene_variant MELA-AU 22 20838361 20838361 single base substitution G A exon_variant MELA-AU 22 20838361 20838361 single base substitution G A intron_variant MELA-AU 22 20838569 20838569 single base substitution C T downstream_gene_variant MELA-AU 22 20838569 20838569 single base substitution C T intron_variant MELA-AU 22 20838768 20838768 single base substitution G A downstream_gene_variant MELA-AU 22 20838768 20838768 single base substitution G A intron_variant MELA-AU 22 20839618 20839618 single base substitution G A downstream_gene_variant MELA-AU 22 20839618 20839618 single base substitution G A intron_variant MELA-AU 22 20840889 20840889 single base substitution G T downstream_gene_variant MELA-AU 22 20840889 20840889 single base substitution G T intron_variant MELA-AU 22 20841460 20841460 single base substitution G A downstream_gene_variant MELA-AU 22 20841460 20841460 single base substitution G A intron_variant MELA-AU 22 20841969 20841969 single base substitution C T downstream_gene_variant MELA-AU 22 20841969 20841969 single base substitution C T intron_variant MELA-AU 22 20842867 20842867 single base substitution C A downstream_gene_variant MELA-AU 22 20842867 20842867 single base substitution C A exon_variant MELA-AU 22 20842867 20842867 single base substitution C A intron_variant MELA-AU 22 20844142 20844142 single base substitution G A intron_variant MELA-AU 22 20844142 20844142 single base substitution G A splice_region_variant MELA-AU 22 20845628 20845628 single base substitution C T 5_prime_UTR_variant MELA-AU 22 20845628 20845628 single base substitution C T intron_variant MELA-AU 22 20845830 20845830 single base substitution A C 5_prime_UTR_variant MELA-AU 22 20845830 20845830 single base substitution A C intron_variant MELA-AU 22 20845873 20845873 single base substitution G A intron_variant MELA-AU 22 20845873 20845873 single base substitution G A upstream_gene_variant MELA-AU 22 20846076 20846076 deletion of <=200bp C - intron_variant MELA-AU 22 20846076 20846076 deletion of <=200bp C - upstream_gene_variant MELA-AU 22 20846598 20846598 deletion of <=200bp G - intron_variant MELA-AU 22 20846598 20846598 deletion of <=200bp G - upstream_gene_variant MELA-AU 22 20846900 20846900 single base substitution G A intron_variant MELA-AU 22 20846900 20846900 single base substitution G A upstream_gene_variant MELA-AU 22 20847208 20847208 single base substitution G A intron_variant MELA-AU 22 20847208 20847208 single base substitution G A upstream_gene_variant MELA-AU 22 20847660 20847660 single base substitution A G intron_variant MELA-AU 22 20847660 20847660 single base substitution A G upstream_gene_variant MELA-AU 22 20848433 20848433 single base substitution G A intron_variant MELA-AU 22 20848433 20848433 single base substitution G A upstream_gene_variant MELA-AU 22 20848992 20848992 single base substitution C T intron_variant MELA-AU 22 20848992 20848992 single base substitution C T upstream_gene_variant MELA-AU 22 20851043 20851043 single base substitution G T upstream_gene_variant MELA-AU 22 20851388 20851389 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 20851389 20851389 single base substitution C T upstream_gene_variant MELA-AU 22 20851545 20851545 single base substitution G A upstream_gene_variant MELA-AU 22 20851620 20851620 single base substitution G A upstream_gene_variant MELA-AU 22 20852709 20852709 single base substitution C T upstream_gene_variant MELA-AU 22 20853988 20853988 single base substitution T C upstream_gene_variant MELA-AU 22 20854450 20854450 single base substitution T G upstream_gene_variant MELA-AU 22 20854523 20854523 single base substitution C T upstream_gene_variant ORCA-IN 22 20780240 20780240 single base substitution C T downstream_gene_variant ORCA-IN 22 20781731 20781731 single base substitution C T downstream_gene_variant ORCA-IN 22 20798353 20798354 deletion of <=200bp AG - intron_variant ORCA-IN 22 20803351 20803351 single base substitution T G intron_variant ORCA-IN 22 20803351 20803351 single base substitution T G upstream_gene_variant ORCA-IN 22 20804337 20804337 single base substitution G A intron_variant ORCA-IN 22 20804337 20804337 single base substitution G A upstream_gene_variant ORCA-IN 22 20819546 20819546 single base substitution G A downstream_gene_variant ORCA-IN 22 20819546 20819546 single base substitution G A exon_variant ORCA-IN 22 20819546 20819546 single base substitution G A intron_variant ORCA-IN 22 20819546 20819546 single base substitution G A synonymous_variant P160P 480C>T ORCA-IN 22 20819546 20819546 single base substitution G A synonymous_variant P237P 711C>T ORCA-IN 22 20819546 20819546 single base substitution G A synonymous_variant P269P 807C>T ORCA-IN 22 20819546 20819546 single base substitution G A synonymous_variant P94P 282C>T OV-AU 22 20781075 20781075 single base substitution G A downstream_gene_variant OV-AU 22 20785034 20785034 single base substitution G A intron_variant OV-AU 22 20787612 20787612 single base substitution T C intron_variant OV-AU 22 20791230 20791230 single base substitution C G downstream_gene_variant OV-AU 22 20791230 20791230 single base substitution C G intron_variant OV-AU 22 20792695 20792695 single base substitution C A downstream_gene_variant OV-AU 22 20792695 20792695 single base substitution C A intron_variant OV-AU 22 20794908 20794908 single base substitution G T downstream_gene_variant OV-AU 22 20794908 20794908 single base substitution G T intron_variant OV-AU 22 20799160 20799160 single base substitution C A intron_variant OV-AU 22 20800727 20800727 single base substitution C A intron_variant OV-AU 22 20800727 20800727 single base substitution C A splice_region_variant OV-AU 22 20810034 20810034 single base substitution C T downstream_gene_variant OV-AU 22 20810034 20810034 single base substitution C T intron_variant OV-AU 22 20815968 20815968 single base substitution G A downstream_gene_variant OV-AU 22 20815968 20815968 single base substitution G A intron_variant OV-AU 22 20818908 20818908 single base substitution C A downstream_gene_variant OV-AU 22 20818908 20818908 single base substitution C A intron_variant OV-AU 22 20824028 20824028 single base substitution T A intron_variant OV-AU 22 20824028 20824028 single base substitution T A upstream_gene_variant OV-AU 22 20828851 20828851 single base substitution G T intron_variant OV-AU 22 20832144 20832144 single base substitution C A intron_variant OV-AU 22 20834971 20834971 single base substitution C G downstream_gene_variant OV-AU 22 20834971 20834971 single base substitution C G intron_variant OV-AU 22 20834989 20834989 single base substitution T A downstream_gene_variant OV-AU 22 20834989 20834989 single base substitution T A intron_variant OV-AU 22 20835830 20835830 single base substitution C T downstream_gene_variant OV-AU 22 20835830 20835830 single base substitution C T intron_variant OV-AU 22 20837018 20837018 single base substitution C G downstream_gene_variant OV-AU 22 20837018 20837018 single base substitution C G intron_variant OV-AU 22 20840311 20840311 single base substitution C T downstream_gene_variant OV-AU 22 20840311 20840311 single base substitution C T intron_variant OV-AU 22 20842679 20842679 single base substitution T C downstream_gene_variant OV-AU 22 20842679 20842679 single base substitution T C intron_variant OV-AU 22 20850065 20850065 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 22 20850065 20850065 single base substitution G A exon_variant OV-AU 22 20850065 20850065 single base substitution G A upstream_gene_variant PACA-AU 22 20784810 20784810 single base substitution C T 3_prime_UTR_variant PACA-AU 22 20789430 20789430 single base substitution A C intron_variant PACA-AU 22 20799235 20799235 single base substitution A T intron_variant PACA-AU 22 20801100 20801100 single base substitution C T intron_variant PACA-AU 22 20801100 20801100 single base substitution C T upstream_gene_variant PACA-AU 22 20803091 20803091 single base substitution T A intron_variant PACA-AU 22 20803091 20803091 single base substitution T A upstream_gene_variant PACA-AU 22 20808607 20808608 deletion of <=200bp CT - downstream_gene_variant PACA-AU 22 20808607 20808608 deletion of <=200bp CT - intron_variant PACA-AU 22 20810854 20810854 single base substitution T C downstream_gene_variant PACA-AU 22 20810854 20810854 single base substitution T C intron_variant PACA-AU 22 20816519 20816519 single base substitution G A downstream_gene_variant PACA-AU 22 20816519 20816519 single base substitution G A intron_variant PACA-AU 22 20818589 20818589 single base substitution G A downstream_gene_variant PACA-AU 22 20818589 20818589 single base substitution G A intron_variant PACA-AU 22 20819420 20819420 single base substitution G A downstream_gene_variant PACA-AU 22 20819420 20819420 single base substitution G A exon_variant PACA-AU 22 20819420 20819420 single base substitution G A intron_variant PACA-AU 22 20819420 20819420 single base substitution G A synonymous_variant N136N 408C>T PACA-AU 22 20819420 20819420 single base substitution G A synonymous_variant N202N 606C>T PACA-AU 22 20819420 20819420 single base substitution G A synonymous_variant N279N 837C>T PACA-AU 22 20824468 20824468 single base substitution A T intron_variant PACA-AU 22 20824468 20824468 single base substitution A T upstream_gene_variant PACA-AU 22 20832780 20832780 single base substitution G T intron_variant PACA-AU 22 20833618 20833630 deletion of <=200bp TAAAAAGTTGTTC - downstream_gene_variant PACA-AU 22 20833618 20833630 deletion of <=200bp TAAAAAGTTGTTC - intron_variant PACA-AU 22 20835187 20835187 single base substitution C T downstream_gene_variant PACA-AU 22 20835187 20835187 single base substitution C T intron_variant PACA-AU 22 20840975 20840975 single base substitution T C downstream_gene_variant PACA-AU 22 20840975 20840975 single base substitution T C intron_variant PACA-AU 22 20843399 20843399 single base substitution G A 5_prime_UTR_variant PACA-AU 22 20843399 20843399 single base substitution G A exon_variant PACA-AU 22 20843399 20843399 single base substitution G A intron_variant PACA-AU 22 20843399 20843399 single base substitution G A stop_gained Q34* 100C>T PACA-AU 22 20843399 20843399 single base substitution G A stop_gained Q66* 196C>T PACA-AU 22 20843399 20843399 single base substitution G A stop_gained Q68* 202C>T PACA-AU 22 20845349 20845349 single base substitution T C intron_variant PACA-AU 22 20847401 20847401 single base substitution C T intron_variant PACA-AU 22 20847401 20847401 single base substitution C T upstream_gene_variant PACA-AU 22 20850492 20850492 single base substitution C T upstream_gene_variant PACA-AU 22 20851437 20851437 single base substitution G A upstream_gene_variant PACA-AU 22 20854627 20854627 single base substitution C G upstream_gene_variant PACA-CA 22 20780578 20780578 single base substitution G A downstream_gene_variant PACA-CA 22 20786277 20786277 single base substitution T A intron_variant PACA-CA 22 20787536 20787536 single base substitution G A intron_variant PACA-CA 22 20790837 20790837 single base substitution C A downstream_gene_variant PACA-CA 22 20790837 20790837 single base substitution C A intron_variant PACA-CA 22 20792150 20792150 single base substitution C A downstream_gene_variant PACA-CA 22 20792150 20792150 single base substitution C A intron_variant PACA-CA 22 20792815 20792815 insertion of <=200bp - C downstream_gene_variant PACA-CA 22 20792815 20792815 insertion of <=200bp - C intron_variant PACA-CA 22 20804684 20804684 single base substitution G T intron_variant PACA-CA 22 20804684 20804684 single base substitution G T upstream_gene_variant PACA-CA 22 20810461 20810461 single base substitution C A downstream_gene_variant PACA-CA 22 20810461 20810461 single base substitution C A intron_variant PACA-CA 22 20810875 20810875 single base substitution C G downstream_gene_variant PACA-CA 22 20810875 20810875 single base substitution C G intron_variant PACA-CA 22 20812865 20812865 single base substitution T C intron_variant PACA-CA 22 20815870 20815870 single base substitution G C downstream_gene_variant PACA-CA 22 20815870 20815870 single base substitution G C intron_variant PACA-CA 22 20816651 20816651 single base substitution T A downstream_gene_variant PACA-CA 22 20816651 20816651 single base substitution T A intron_variant PACA-CA 22 20817841 20817841 single base substitution G A downstream_gene_variant PACA-CA 22 20817841 20817841 single base substitution G A intron_variant PACA-CA 22 20818276 20818277 deletion of <=200bp TC - downstream_gene_variant PACA-CA 22 20818276 20818277 deletion of <=200bp TC - intron_variant PACA-CA 22 20828827 20828827 single base substitution C T intron_variant PACA-CA 22 20831220 20831220 single base substitution C T intron_variant PACA-CA 22 20839199 20839199 single base substitution A T downstream_gene_variant PACA-CA 22 20839199 20839199 single base substitution A T intron_variant PACA-CA 22 20846240 20846240 single base substitution G A exon_variant PACA-CA 22 20846240 20846240 single base substitution G A intron_variant PACA-CA 22 20846240 20846240 single base substitution G A upstream_gene_variant PACA-CA 22 20848372 20848372 single base substitution A C intron_variant PACA-CA 22 20848372 20848372 single base substitution A C upstream_gene_variant PACA-CA 22 20848494 20848494 insertion of <=200bp - A intron_variant PACA-CA 22 20848494 20848494 insertion of <=200bp - A upstream_gene_variant PACA-CA 22 20848706 20848706 single base substitution G A intron_variant PACA-CA 22 20848706 20848706 single base substitution G A upstream_gene_variant PACA-CA 22 20850929 20850929 single base substitution C T upstream_gene_variant PACA-CA 22 20852345 20852345 single base substitution C G upstream_gene_variant PACA-CA 22 20852729 20852729 single base substitution G C upstream_gene_variant PAEN-AU 22 20789687 20789687 single base substitution C T intron_variant PAEN-AU 22 20803427 20803427 single base substitution A C intron_variant PAEN-AU 22 20803427 20803427 single base substitution A C upstream_gene_variant PAEN-AU 22 20816430 20816430 single base substitution G A downstream_gene_variant PAEN-AU 22 20816430 20816430 single base substitution G A intron_variant PAEN-AU 22 20825046 20825046 single base substitution G A intron_variant PAEN-AU 22 20838405 20838405 single base substitution G T downstream_gene_variant PAEN-AU 22 20838405 20838405 single base substitution G T intron_variant PAEN-AU 22 20848626 20848626 single base substitution G A intron_variant PAEN-AU 22 20848626 20848626 single base substitution G A upstream_gene_variant PAEN-AU 22 20849225 20849225 single base substitution C G intron_variant PAEN-AU 22 20849225 20849225 single base substitution C G upstream_gene_variant PAEN-IT 22 20780191 20780191 single base substitution G A downstream_gene_variant PAEN-IT 22 20803794 20803794 single base substitution T C intron_variant PAEN-IT 22 20803794 20803794 single base substitution T C upstream_gene_variant PAEN-IT 22 20818195 20818195 single base substitution C G downstream_gene_variant PAEN-IT 22 20818195 20818195 single base substitution C G intron_variant PAEN-IT 22 20832192 20832192 single base substitution T C intron_variant PBCA-DE 22 20779269 20779269 single base substitution C A downstream_gene_variant PBCA-DE 22 20794416 20794416 single base substitution G A downstream_gene_variant PBCA-DE 22 20794416 20794416 single base substitution G A intron_variant PBCA-DE 22 20795132 20795132 single base substitution C T downstream_gene_variant PBCA-DE 22 20795132 20795132 single base substitution C T intron_variant PBCA-DE 22 20807120 20807120 single base substitution C T downstream_gene_variant PBCA-DE 22 20807120 20807120 single base substitution C T intron_variant PBCA-DE 22 20812180 20812180 single base substitution C T exon_variant PBCA-DE 22 20812180 20812180 single base substitution C T missense_variant R264H 791G>A PBCA-DE 22 20812180 20812180 single base substitution C T missense_variant R407H 1220G>A PBCA-DE 22 20824081 20824081 single base substitution G A intron_variant PBCA-DE 22 20824081 20824081 single base substitution G A upstream_gene_variant PBCA-DE 22 20826083 20826083 single base substitution T C intron_variant PBCA-DE 22 20827546 20827546 single base substitution G A intron_variant PBCA-DE 22 20849690 20849690 single base substitution G A intron_variant PBCA-DE 22 20849690 20849690 single base substitution G A upstream_gene_variant PRAD-CA 22 20788362 20788362 single base substitution T G intron_variant PRAD-CA 22 20794726 20794726 single base substitution T C downstream_gene_variant PRAD-CA 22 20794726 20794726 single base substitution T C intron_variant PRAD-CA 22 20825006 20825006 single base substitution C G intron_variant PRAD-CA 22 20825073 20825073 single base substitution A G intron_variant PRAD-CA 22 20825130 20825130 single base substitution G C intron_variant PRAD-UK 22 20802523 20802523 single base substitution C G intron_variant PRAD-UK 22 20802523 20802523 single base substitution C G upstream_gene_variant PRAD-UK 22 20806947 20806947 single base substitution C T downstream_gene_variant PRAD-UK 22 20806947 20806947 single base substitution C T intron_variant PRAD-UK 22 20807165 20807165 single base substitution G C downstream_gene_variant PRAD-UK 22 20807165 20807165 single base substitution G C intron_variant PRAD-UK 22 20809642 20809642 single base substitution C T downstream_gene_variant PRAD-UK 22 20809642 20809642 single base substitution C T intron_variant PRAD-UK 22 20816414 20816414 single base substitution A G downstream_gene_variant PRAD-UK 22 20816414 20816414 single base substitution A G intron_variant PRAD-UK 22 20816650 20816650 single base substitution A T downstream_gene_variant PRAD-UK 22 20816650 20816650 single base substitution A T intron_variant PRAD-UK 22 20823676 20823676 single base substitution G A intron_variant PRAD-UK 22 20823676 20823676 single base substitution G A upstream_gene_variant PRAD-UK 22 20842968 20842968 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG downstream_gene_variant PRAD-UK 22 20842968 20842968 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG exon_variant PRAD-UK 22 20842968 20842968 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG intron_variant PRAD-UK 22 20842969 20842969 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG downstream_gene_variant PRAD-UK 22 20842969 20842969 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG exon_variant PRAD-UK 22 20842969 20842969 insertion of <=200bp - GGGAGGGGAGGGGAGGGGAGAGGAG intron_variant PRAD-UK 22 20848994 20848994 single base substitution C T intron_variant PRAD-UK 22 20848994 20848994 single base substitution C T upstream_gene_variant READ-US 22 20780097 20780097 single base substitution G C downstream_gene_variant READ-US 22 20784755 20784755 single base substitution G A 3_prime_UTR_variant READ-US 22 20800900 20800900 single base substitution C T exon_variant READ-US 22 20800900 20800900 single base substitution C T missense_variant E314K 940G>A READ-US 22 20800900 20800900 single base substitution C T missense_variant E457K 1369G>A RECA-EU 22 20778832 20778832 single base substitution G T downstream_gene_variant RECA-EU 22 20785430 20785430 single base substitution G T intron_variant RECA-EU 22 20797152 20797152 single base substitution C T intron_variant RECA-EU 22 20811731 20811731 single base substitution G A downstream_gene_variant RECA-EU 22 20811731 20811731 single base substitution G A intron_variant RECA-EU 22 20811735 20811735 single base substitution C G downstream_gene_variant RECA-EU 22 20811735 20811735 single base substitution C G intron_variant RECA-EU 22 20814285 20814285 single base substitution G A intron_variant RECA-EU 22 20834246 20834246 single base substitution T C downstream_gene_variant RECA-EU 22 20834246 20834246 single base substitution T C intron_variant RECA-EU 22 20853421 20853421 single base substitution T C upstream_gene_variant RECA-EU 22 20853642 20853642 single base substitution T C upstream_gene_variant RECA-EU 22 20854348 20854348 single base substitution C T upstream_gene_variant RECA-EU 22 20854926 20854926 single base substitution G T upstream_gene_variant SKCA-BR 22 20783365 20783365 single base substitution T C downstream_gene_variant SKCA-BR 22 20784677 20784677 single base substitution T G intron_variant SKCA-BR 22 20784688 20784688 single base substitution A C intron_variant SKCA-BR 22 20784695 20784695 single base substitution T C intron_variant SKCA-BR 22 20786050 20786050 single base substitution C G intron_variant SKCA-BR 22 20786863 20786863 single base substitution A G intron_variant SKCA-BR 22 20788905 20788905 single base substitution G T intron_variant SKCA-BR 22 20789420 20789420 single base substitution A C intron_variant SKCA-BR 22 20789430 20789430 single base substitution A C intron_variant SKCA-BR 22 20789441 20789441 single base substitution T C intron_variant SKCA-BR 22 20789459 20789460 deletion of <=200bp CT - intron_variant SKCA-BR 22 20789460 20789460 single base substitution T C intron_variant SKCA-BR 22 20791581 20791581 single base substitution C T downstream_gene_variant SKCA-BR 22 20791581 20791581 single base substitution C T intron_variant SKCA-BR 22 20798858 20798858 single base substitution G A intron_variant SKCA-BR 22 20800355 20800355 single base substitution T G intron_variant SKCA-BR 22 20808125 20808125 single base substitution C T downstream_gene_variant SKCA-BR 22 20808125 20808125 single base substitution C T intron_variant SKCA-BR 22 20808884 20808884 single base substitution C T downstream_gene_variant SKCA-BR 22 20808884 20808884 single base substitution C T intron_variant SKCA-BR 22 20813226 20813226 single base substitution G A intron_variant SKCA-BR 22 20813227 20813227 single base substitution G A intron_variant SKCA-BR 22 20813247 20813247 single base substitution T C intron_variant SKCA-BR 22 20816551 20816551 single base substitution G A downstream_gene_variant SKCA-BR 22 20816551 20816551 single base substitution G A intron_variant SKCA-BR 22 20819849 20819849 single base substitution G A 5_prime_UTR_variant SKCA-BR 22 20819849 20819849 single base substitution G A exon_variant SKCA-BR 22 20819849 20819849 single base substitution G A missense_variant S152F 455C>T SKCA-BR 22 20819849 20819849 single base substitution G A synonymous_variant I136I 408C>T SKCA-BR 22 20819849 20819849 single base substitution G A synonymous_variant I168I 504C>T SKCA-BR 22 20819849 20819849 single base substitution G A synonymous_variant I170I 510C>T SKCA-BR 22 20819849 20819849 single base substitution G A synonymous_variant I59I 177C>T SKCA-BR 22 20819849 20819849 single base substitution G A upstream_gene_variant SKCA-BR 22 20820282 20820282 single base substitution G A intron_variant SKCA-BR 22 20820282 20820282 single base substitution G A upstream_gene_variant SKCA-BR 22 20823347 20823347 single base substitution C T intron_variant SKCA-BR 22 20823347 20823347 single base substitution C T upstream_gene_variant SKCA-BR 22 20824012 20824012 single base substitution G A intron_variant SKCA-BR 22 20824012 20824012 single base substitution G A upstream_gene_variant SKCA-BR 22 20824829 20824829 single base substitution G A intron_variant SKCA-BR 22 20824967 20824967 insertion of <=200bp - GTGGA intron_variant SKCA-BR 22 20824967 20824971 deletion of <=200bp GTGGA - intron_variant SKCA-BR 22 20827936 20827936 single base substitution G A intron_variant SKCA-BR 22 20834317 20834317 single base substitution G A downstream_gene_variant SKCA-BR 22 20834317 20834317 single base substitution G A intron_variant SKCA-BR 22 20835243 20835243 single base substitution C G downstream_gene_variant SKCA-BR 22 20835243 20835243 single base substitution C G intron_variant SKCA-BR 22 20835845 20835845 single base substitution G A downstream_gene_variant SKCA-BR 22 20835845 20835845 single base substitution G A intron_variant SKCA-BR 22 20838402 20838402 single base substitution G A downstream_gene_variant SKCA-BR 22 20838402 20838402 single base substitution G A intron_variant SKCA-BR 22 20838403 20838403 single base substitution G A downstream_gene_variant SKCA-BR 22 20838403 20838403 single base substitution G A intron_variant SKCA-BR 22 20839018 20839019 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 22 20839018 20839019 deletion of <=200bp CT - intron_variant SKCA-BR 22 20839979 20839979 single base substitution A C downstream_gene_variant SKCA-BR 22 20839979 20839979 single base substitution A C intron_variant SKCA-BR 22 20841671 20841672 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 22 20841671 20841672 deletion of <=200bp AT - intron_variant SKCA-BR 22 20843843 20843843 single base substitution G A intron_variant SKCA-BR 22 20845114 20845114 single base substitution A C intron_variant SKCA-BR 22 20848567 20848567 single base substitution G T intron_variant SKCA-BR 22 20848567 20848567 single base substitution G T upstream_gene_variant SKCA-BR 22 20849863 20849863 single base substitution T C intron_variant SKCA-BR 22 20849863 20849863 single base substitution T C upstream_gene_variant SKCA-BR 22 20851748 20851748 single base substitution C T upstream_gene_variant SKCA-BR 22 20851888 20851888 single base substitution C T upstream_gene_variant SKCA-BR 22 20852627 20852627 insertion of <=200bp - CCTG upstream_gene_variant SKCA-BR 22 20854676 20854676 insertion of <=200bp - TTC upstream_gene_variant SKCM-US 22 20779730 20779730 single base substitution G A downstream_gene_variant SKCM-US 22 20779757 20779757 single base substitution G A downstream_gene_variant SKCM-US 22 20780064 20780064 single base substitution G A downstream_gene_variant SKCM-US 22 20780149 20780149 single base substitution G A downstream_gene_variant SKCM-US 22 20780200 20780200 single base substitution G A downstream_gene_variant SKCM-US 22 20780370 20780370 single base substitution G A downstream_gene_variant SKCM-US 22 20781762 20781762 single base substitution G A downstream_gene_variant SKCM-US 22 20781786 20781786 single base substitution G A downstream_gene_variant SKCM-US 22 20783619 20783619 single base substitution G A 3_prime_UTR_variant SKCM-US 22 20783888 20783888 single base substitution G A 3_prime_UTR_variant SKCM-US 22 20791941 20791943 deletion of <=200bp AGC - downstream_gene_variant SKCM-US 22 20791941 20791943 deletion of <=200bp AGC - intron_variant SKCM-US 22 20796379 20796379 single base substitution T C intron_variant SKCM-US 22 20796379 20796379 single base substitution T C missense_variant D486G 1457A>G SKCM-US 22 20796379 20796379 single base substitution T C missense_variant D629G 1886A>G SKCM-US 22 20796595 20796595 single base substitution C T intron_variant SKCM-US 22 20796595 20796595 single base substitution C T missense_variant G414D 1241G>A SKCM-US 22 20796595 20796595 single base substitution C T missense_variant G557D 1670G>A SKCM-US 22 20812259 20812259 single base substitution G A exon_variant SKCM-US 22 20812259 20812259 single base substitution G A stop_gained Q238* 712C>T SKCM-US 22 20812259 20812259 single base substitution G A stop_gained Q381* 1141C>T SKCM-US 22 20819167 20819167 single base substitution G A downstream_gene_variant SKCM-US 22 20819167 20819167 single base substitution G A exon_variant SKCM-US 22 20819167 20819167 single base substitution G A intron_variant SKCM-US 22 20819167 20819167 single base substitution G A stop_gained R221* 661C>T SKCM-US 22 20819167 20819167 single base substitution G A stop_gained R364* 1090C>T SKCM-US 22 20819207 20819207 single base substitution G A downstream_gene_variant SKCM-US 22 20819207 20819207 single base substitution G A exon_variant SKCM-US 22 20819207 20819207 single base substitution G A intron_variant SKCM-US 22 20819207 20819207 single base substitution G A synonymous_variant F207F 621C>T SKCM-US 22 20819207 20819207 single base substitution G A synonymous_variant F350F 1050C>T SKCM-US 22 20819329 20819329 single base substitution G A downstream_gene_variant SKCM-US 22 20819329 20819329 single base substitution G A exon_variant SKCM-US 22 20819329 20819329 single base substitution G A intron_variant SKCM-US 22 20819329 20819329 single base substitution G A missense_variant P167S 499C>T SKCM-US 22 20819329 20819329 single base substitution G A missense_variant P310S 928C>T SKCM-US 22 20819536 20819536 single base substitution G A downstream_gene_variant SKCM-US 22 20819536 20819536 single base substitution G A exon_variant SKCM-US 22 20819536 20819536 single base substitution G A intron_variant SKCM-US 22 20819536 20819536 single base substitution G A missense_variant L164F 490C>T SKCM-US 22 20819536 20819536 single base substitution G A missense_variant L241F 721C>T SKCM-US 22 20819536 20819536 single base substitution G A missense_variant L273F 817C>T SKCM-US 22 20819536 20819536 single base substitution G A missense_variant L98F 292C>T SKCM-US 22 20819664 20819664 single base substitution G A downstream_gene_variant SKCM-US 22 20819664 20819664 single base substitution G A exon_variant SKCM-US 22 20819664 20819664 single base substitution G A missense_variant S121F 362C>T SKCM-US 22 20819664 20819664 single base substitution G A missense_variant S198F 593C>T SKCM-US 22 20819664 20819664 single base substitution G A missense_variant S230F 689C>T SKCM-US 22 20819664 20819664 single base substitution G A missense_variant S232F 695C>T SKCM-US 22 20819664 20819664 single base substitution G A missense_variant S55F 164C>T SKCM-US 22 20819666 20819666 single base substitution G A downstream_gene_variant SKCM-US 22 20819666 20819666 single base substitution G A exon_variant SKCM-US 22 20819666 20819666 single base substitution G A synonymous_variant Y120Y 360C>T SKCM-US 22 20819666 20819666 single base substitution G A synonymous_variant Y197Y 591C>T SKCM-US 22 20819666 20819666 single base substitution G A synonymous_variant Y229Y 687C>T SKCM-US 22 20819666 20819666 single base substitution G A synonymous_variant Y231Y 693C>T SKCM-US 22 20819666 20819666 single base substitution G A synonymous_variant Y54Y 162C>T SKCM-US 22 20819739 20819739 single base substitution G A downstream_gene_variant SKCM-US 22 20819739 20819739 single base substitution G A exon_variant SKCM-US 22 20819739 20819739 single base substitution G A missense_variant T173I 518C>T SKCM-US 22 20819739 20819739 single base substitution G A missense_variant T205I 614C>T SKCM-US 22 20819739 20819739 single base substitution G A missense_variant T207I 620C>T SKCM-US 22 20819739 20819739 single base substitution G A missense_variant T30I 89C>T SKCM-US 22 20819739 20819739 single base substitution G A missense_variant T96I 287C>T SKCM-US 22 20825649 20825649 single base substitution G A exon_variant SKCM-US 22 20825649 20825649 single base substitution G A intron_variant SKCM-US 22 20825649 20825649 single base substitution G A synonymous_variant A127A 381C>T SKCM-US 22 20825649 20825649 single base substitution G A synonymous_variant A159A 477C>T SKCM-US 22 20825649 20825649 single base substitution G A synonymous_variant A161A 483C>T SKCM-US 22 20825649 20825649 single base substitution G A synonymous_variant A50A 150C>T SKCM-US 22 20825681 20825681 single base substitution G A exon_variant SKCM-US 22 20825681 20825681 single base substitution G A intron_variant SKCM-US 22 20825681 20825681 single base substitution G A synonymous_variant L117L 349C>T SKCM-US 22 20825681 20825681 single base substitution G A synonymous_variant L149L 445C>T SKCM-US 22 20825681 20825681 single base substitution G A synonymous_variant L151L 451C>T SKCM-US 22 20825681 20825681 single base substitution G A synonymous_variant L40L 118C>T SKCM-US 22 20825682 20825682 single base substitution G A exon_variant SKCM-US 22 20825682 20825682 single base substitution G A intron_variant SKCM-US 22 20825682 20825682 single base substitution G A synonymous_variant S116S 348C>T SKCM-US 22 20825682 20825682 single base substitution G A synonymous_variant S148S 444C>T SKCM-US 22 20825682 20825682 single base substitution G A synonymous_variant S150S 450C>T SKCM-US 22 20825682 20825682 single base substitution G A synonymous_variant S39S 117C>T SKCM-US 22 20825709 20825709 single base substitution G A exon_variant SKCM-US 22 20825709 20825709 single base substitution G A intron_variant SKCM-US 22 20825709 20825709 single base substitution G A synonymous_variant F107F 321C>T SKCM-US 22 20825709 20825709 single base substitution G A synonymous_variant F139F 417C>T SKCM-US 22 20825709 20825709 single base substitution G A synonymous_variant F141F 423C>T SKCM-US 22 20825709 20825709 single base substitution G A synonymous_variant F30F 90C>T SKCM-US 22 20825720 20825720 single base substitution T A exon_variant SKCM-US 22 20825720 20825720 single base substitution T A intron_variant SKCM-US 22 20825720 20825720 single base substitution T A missense_variant I104F 310A>T SKCM-US 22 20825720 20825720 single base substitution T A missense_variant I136F 406A>T SKCM-US 22 20825720 20825720 single base substitution T A missense_variant I138F 412A>T SKCM-US 22 20825720 20825720 single base substitution T A missense_variant I27F 79A>T STAD-US 22 20780319 20780319 single base substitution C T downstream_gene_variant STAD-US 22 20783851 20783851 single base substitution C T 3_prime_UTR_variant STAD-US 22 20785156 20785156 single base substitution G A intron_variant STAD-US 22 20786261 20786261 single base substitution G A intron_variant STAD-US 22 20796462 20796462 single base substitution C T intron_variant STAD-US 22 20796462 20796462 single base substitution C T synonymous_variant P458P 1374G>A STAD-US 22 20796462 20796462 single base substitution C T synonymous_variant P601P 1803G>A STAD-US 22 20796481 20796481 single base substitution C T intron_variant STAD-US 22 20796481 20796481 single base substitution C T missense_variant R452H 1355G>A STAD-US 22 20796481 20796481 single base substitution C T missense_variant R595H 1784G>A STAD-US 22 20796663 20796663 single base substitution G A intron_variant STAD-US 22 20796663 20796663 single base substitution G A synonymous_variant H391H 1173C>T STAD-US 22 20796663 20796663 single base substitution G A synonymous_variant H534H 1602C>T STAD-US 22 20796677 20796677 single base substitution G A intron_variant STAD-US 22 20796677 20796677 single base substitution G A missense_variant L387F 1159C>T STAD-US 22 20796677 20796677 single base substitution G A missense_variant L530F 1588C>T STAD-US 22 20800825 20800825 single base substitution G A exon_variant STAD-US 22 20800825 20800825 single base substitution G A missense_variant R339W 1015C>T STAD-US 22 20800825 20800825 single base substitution G A missense_variant R482W 1444C>T STAD-US 22 20800921 20800921 single base substitution T C missense_variant I307V 919A>G STAD-US 22 20800921 20800921 single base substitution T C missense_variant I450V 1348A>G STAD-US 22 20800921 20800921 single base substitution T C upstream_gene_variant STAD-US 22 20800941 20800941 single base substitution G A missense_variant T300M 899C>T STAD-US 22 20800941 20800941 single base substitution G A missense_variant T443M 1328C>T STAD-US 22 20800941 20800941 single base substitution G A upstream_gene_variant STAD-US 22 20800951 20800951 single base substitution C T missense_variant A297T 889G>A STAD-US 22 20800951 20800951 single base substitution C T missense_variant A440T 1318G>A STAD-US 22 20800951 20800951 single base substitution C T upstream_gene_variant STAD-US 22 20812182 20812182 single base substitution G A exon_variant STAD-US 22 20812182 20812182 single base substitution G A synonymous_variant G263G 789C>T STAD-US 22 20812182 20812182 single base substitution G A synonymous_variant G406G 1218C>T STAD-US 22 20819222 20819222 single base substitution C T downstream_gene_variant STAD-US 22 20819222 20819222 single base substitution C T exon_variant STAD-US 22 20819222 20819222 single base substitution C T intron_variant STAD-US 22 20819222 20819222 single base substitution C T synonymous_variant A202A 606G>A STAD-US 22 20819222 20819222 single base substitution C T synonymous_variant A345A 1035G>A STAD-US 22 20819312 20819312 single base substitution G A downstream_gene_variant STAD-US 22 20819312 20819312 single base substitution G A exon_variant STAD-US 22 20819312 20819312 single base substitution G A intron_variant STAD-US 22 20819312 20819312 single base substitution G A synonymous_variant S172S 516C>T STAD-US 22 20819312 20819312 single base substitution G A synonymous_variant S315S 945C>T STAD-US 22 20819360 20819360 single base substitution G A downstream_gene_variant STAD-US 22 20819360 20819360 single base substitution G A exon_variant STAD-US 22 20819360 20819360 single base substitution G A intron_variant STAD-US 22 20819360 20819360 single base substitution G A synonymous_variant C156C 468C>T STAD-US 22 20819360 20819360 single base substitution G A synonymous_variant C222C 666C>T STAD-US 22 20819360 20819360 single base substitution G A synonymous_variant C299C 897C>T STAD-US 22 20819491 20819491 single base substitution G A downstream_gene_variant STAD-US 22 20819491 20819491 single base substitution G A exon_variant STAD-US 22 20819491 20819491 single base substitution G A intron_variant STAD-US 22 20819491 20819491 single base substitution G A missense_variant R113W 337C>T STAD-US 22 20819491 20819491 single base substitution G A missense_variant R179W 535C>T STAD-US 22 20819491 20819491 single base substitution G A missense_variant R256W 766C>T STAD-US 22 20819491 20819491 single base substitution G A missense_variant R288W 862C>T STAD-US 22 20819530 20819530 single base substitution T C downstream_gene_variant STAD-US 22 20819530 20819530 single base substitution T C exon_variant STAD-US 22 20819530 20819530 single base substitution T C intron_variant STAD-US 22 20819530 20819530 single base substitution T C missense_variant T100A 298A>G STAD-US 22 20819530 20819530 single base substitution T C missense_variant T166A 496A>G STAD-US 22 20819530 20819530 single base substitution T C missense_variant T243A 727A>G STAD-US 22 20819530 20819530 single base substitution T C missense_variant T275A 823A>G STAD-US 22 20819706 20819706 single base substitution C T downstream_gene_variant STAD-US 22 20819706 20819706 single base substitution C T exon_variant STAD-US 22 20819706 20819706 single base substitution C T missense_variant R107Q 320G>A STAD-US 22 20819706 20819706 single base substitution C T missense_variant R184Q 551G>A STAD-US 22 20819706 20819706 single base substitution C T missense_variant R216Q 647G>A STAD-US 22 20819706 20819706 single base substitution C T missense_variant R218Q 653G>A STAD-US 22 20819706 20819706 single base substitution C T missense_variant R41Q 122G>A STAD-US 22 20825700 20825700 single base substitution G T exon_variant STAD-US 22 20825700 20825700 single base substitution G T intron_variant STAD-US 22 20825700 20825700 single base substitution G T synonymous_variant T110T 330C>A STAD-US 22 20825700 20825700 single base substitution G T synonymous_variant T142T 426C>A STAD-US 22 20825700 20825700 single base substitution G T synonymous_variant T144T 432C>A STAD-US 22 20825700 20825700 single base substitution G T synonymous_variant T33T 99C>A THCA-SA 22 20791940 20791940 insertion of <=200bp - AGC downstream_gene_variant THCA-SA 22 20791940 20791940 insertion of <=200bp - AGC intron_variant UCEC-US 22 20796445 20796445 single base substitution T C intron_variant UCEC-US 22 20796445 20796445 single base substitution T C missense_variant D464G 1391A>G UCEC-US 22 20796445 20796445 single base substitution T C missense_variant D607G 1820A>G UCEC-US 22 20812148 20812148 single base substitution G T exon_variant UCEC-US 22 20812148 20812148 single base substitution G T missense_variant R275S 823C>A UCEC-US 22 20812148 20812148 single base substitution G T missense_variant R418S 1252C>A UCEC-US 22 20812181 20812181 single base substitution G A exon_variant UCEC-US 22 20812181 20812181 single base substitution G A missense_variant R264C 790C>T UCEC-US 22 20812181 20812181 single base substitution G A missense_variant R407C 1219C>T UCEC-US 22 20812233 20812233 single base substitution G A exon_variant UCEC-US 22 20812233 20812233 single base substitution G A synonymous_variant H246H 738C>T UCEC-US 22 20812233 20812233 single base substitution G A synonymous_variant H389H 1167C>T UCEC-US 22 20819167 20819167 single base substitution G A downstream_gene_variant UCEC-US 22 20819167 20819167 single base substitution G A exon_variant UCEC-US 22 20819167 20819167 single base substitution G A intron_variant UCEC-US 22 20819167 20819167 single base substitution G A stop_gained R221* 661C>T UCEC-US 22 20819167 20819167 single base substitution G A stop_gained R364* 1090C>T UCEC-US 22 20819385 20819385 single base substitution G A downstream_gene_variant UCEC-US 22 20819385 20819385 single base substitution G A exon_variant UCEC-US 22 20819385 20819385 single base substitution G A intron_variant UCEC-US 22 20819385 20819385 single base substitution G A missense_variant T148M 443C>T UCEC-US 22 20819385 20819385 single base substitution G A missense_variant T214M 641C>T UCEC-US 22 20819385 20819385 single base substitution G A missense_variant T291M 872C>T UCEC-US 22 20819420 20819420 single base substitution G A downstream_gene_variant UCEC-US 22 20819420 20819420 single base substitution G A exon_variant UCEC-US 22 20819420 20819420 single base substitution G A intron_variant UCEC-US 22 20819420 20819420 single base substitution G A synonymous_variant N136N 408C>T UCEC-US 22 20819420 20819420 single base substitution G A synonymous_variant N202N 606C>T UCEC-US 22 20819420 20819420 single base substitution G A synonymous_variant N279N 837C>T UCEC-US 22 20843316 20843316 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 22 20843316 20843316 single base substitution G A exon_variant UCEC-US 22 20843316 20843316 single base substitution G A intron_variant UCEC-US 22 20843316 20843316 single base substitution G A synonymous_variant I61I 183C>T UCEC-US 22 20843316 20843316 single base substitution G A synonymous_variant I93I 279C>T UCEC-US 22 20843316 20843316 single base substitution G A synonymous_variant I95I 285C>T UCEC-US 22 20843381 20843381 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 22 20843381 20843381 single base substitution G T exon_variant UCEC-US 22 20843381 20843381 single base substitution G T intron_variant UCEC-US 22 20843381 20843381 single base substitution G T missense_variant L40M 118C>A UCEC-US 22 20843381 20843381 single base substitution G T missense_variant L72M 214C>A UCEC-US 22 20843381 20843381 single base substitution G T missense_variant L74M 220C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A051-01 COSM1032243 c.837C>T p.N279N Substitution - coding silent 22:20465133-20465133 - Pat_06_B COSM5858956 c.1516G>A p.G506R Substitution - Missense 22:20446466-20446466 - 05-P8014 COSM4582213 c.315A>G p.L105L Substitution - coding silent 22:20471428-20471428 - CSCC-15-T COSM4543993 c.347G>A p.S116N Substitution - Missense 22:20471396-20471396 - TCGA-BR-4201-01 COSM4102736 c.1784G>A p.R595H Substitution - Missense 22:20442194-20442194 - CRC-19T COSM5481703 c.740C>T p.P247L Substitution - Missense 22:20465230-20465230 - T207 COSM4696488 c.1389A>C p.T463T Substitution - coding silent 22:20446593-20446593 - sysucc-882T COSM1414971 c.767G>A p.R256Q Substitution - Missense 22:20465203-20465203 - 41T COSM3713620 c.711C>T p.P237P Substitution - coding silent 22:20465259-20465259 - TCGA-CG-5726-01 COSM4102743 c.1035G>A p.A345A Substitution - coding silent 22:20464935-20464935 - TCGA-HU-A4GN-01 COSM4102738 c.1588C>T p.L530F Substitution - Missense 22:20442390-20442390 - TCGA-85-6175-01 COSM725568 c.698C>A p.S233* Substitution - Nonsense 22:20465272-20465272 - 032T COSM1728446 c.1258G>C p.D420H Substitution - Missense 22:20457855-20457855 - 61 COSM5742051 c.115G>T p.G39W Substitution - Missense 22:20489097-20489097 - H1155 COSM1195417 c.1523G>A p.R508K Substitution - Missense 22:20446459-20446459 - TCGA-D1-A167-01 COSM1032242 c.872C>T p.T291M Substitution - Missense 22:20465098-20465098 - HCC153T COSM4102748 c.551G>A p.R184Q Substitution - Missense 22:20465419-20465419 - TCGA-D9-A6EC-06 COSM4404847 c.381C>T p.A127A Substitution - coding silent 22:20471362-20471362 - T368 COSM3307972 c.1325C>T p.A442V Substitution - Missense 22:20446657-20446657 - T21 COSM5344053 c.1838C>A p.P613Q Substitution - Missense 22:20442140-20442140 - TCGA-G4-6302-01 COSM3693952 c.567C>A p.R189R Substitution - coding silent 22:20465403-20465403 - TCGA-04-1516-01 COSM1327328 c.1055A>T p.Y352F Substitution - Missense 22:20464915-20464915 - TCGA-CM-6674-01 COSM1414973 c.67G>A p.V23M Substitution - Missense 22:20489145-20489145 - TCGA-BS-A0UV-01 COSM1032241 c.1090C>T p.R364* Substitution - Nonsense 22:20464880-20464880 - TCGA-DA-A1IC-06 COSM3552292 c.348C>T p.S116S Substitution - coding silent 22:20471395-20471395 - T163 COSM307683 c.1168G>A p.A390T Substitution - Missense 22:20457945-20457945 - TCGA-BR-4370-01 COSM3740356 c.1318G>A p.A440T Substitution - Missense 22:20446664-20446664 - TCGA-CG-5733-01 COSM4102749 c.330C>A p.T110T Substitution - coding silent 22:20471413-20471413 - TCGA-HU-A4GT-01 COSM4102748 c.551G>A p.R184Q Substitution - Missense 22:20465419-20465419 - TCGA-BP-4337-01 COSM3774001 c.50C>A p.P17H Substitution - Missense 22:20489162-20489162 - TCGA-BR-8591-01 COSM4102744 c.945C>T p.S315S Substitution - coding silent 22:20465025-20465025 - 381_T COSM3964110 c.704A>T p.H235L Substitution - Missense 22:20465266-20465266 - TCGA-B5-A0JY-01 COSM1032239 c.1219C>T p.R407C Substitution - Missense 22:20457894-20457894 - TCGA-D3-A3MU-06 COSM3552293 c.310A>T p.I104F Substitution - Missense 22:20471433-20471433 - TCGA-EE-A3JI-06 COSM3552288 c.721C>T p.L241F Substitution - Missense 22:20465249-20465249 - RKO COSM3308001 c.139G>A p.G47R Substitution - Missense 22:20489073-20489073 - RK308_C01 COSM3740356 c.1318G>A p.A440T Substitution - Missense 22:20446664-20446664 - TCGA-EB-A3XB-01 COSM1032241 c.1090C>T p.R364* Substitution - Nonsense 22:20464880-20464880 - CN-AML-NR-08-Dx COSM5425486 c.1434T>C p.D478D Substitution - coding silent 22:20446548-20446548 - TCGA-39-5030-01 COSM725565 c.497G>A p.R166H Substitution - Missense 22:20465473-20465473 - TCGA-AP-A059-01 COSM1032238 c.1252C>A p.R418S Substitution - Missense 22:20457861-20457861 - TCGA-HU-A4GQ-01 COSM4102742 c.1218C>T p.G406G Substitution - coding silent 22:20457895-20457895 - HCC63T COSM1616250 c.217G>T p.D73Y Substitution - Missense 22:20488995-20488995 - 8069329 COSM3785616 c.100C>T p.Q34* Substitution - Nonsense 22:20489112-20489112 - TCGA-18-3414-01 COSM725570 c.1196G>T p.R399M Substitution - Missense 22:20457917-20457917 - LUAD_E00522 COSM352998 c.753T>A p.A251A Substitution - coding silent 22:20465217-20465217 - TCGA-21-1070-01 COSM725567 c.676C>T p.Q226* Substitution - Nonsense 22:20465294-20465294 - HCC63 COSM1616250 c.217G>T p.D73Y Substitution - Missense 22:20488995-20488995 - DN1121A COSM5962934 c.465C>T p.V155V Substitution - coding silent 22:20465505-20465505 - HB2 COSM5346155 c.1A>T p.M1L Substitution - Missense 22:20489211-20489211 - T578 COSM1414966 c.1531G>A p.V511M Substitution - Missense 22:20446451-20446451 - TCGA-FW-A3R5-06 COSM3912415 c.321C>T p.F107F Substitution - coding silent 22:20471422-20471422 - T2269 COSM3552286 c.1050C>T p.F350F Substitution - coding silent 22:20464920-20464920 - BCM339T COSM5347427 c.394-6_418del31 p.? Unknown 22:20465552-20465582 - 8016470 COSM1032243 c.837C>T p.N279N Substitution - coding silent 22:20465133-20465133 - TCGA-AN-A0FS-01 COSM444719 c.1527G>A p.R509R Substitution - coding silent 22:20446455-20446455 - TCGA-AN-A046-01 COSM3552286 c.1050C>T p.F350F Substitution - coding silent 22:20464920-20464920 - TCGA-CG-5734-01 COSM4102747 c.727A>G p.T243A Substitution - Missense 22:20465243-20465243 - 3N08-VS-3T08 COSM4979056 c.445G>A p.E149K Substitution - Missense 22:20465525-20465525 - TCGA-EE-A2M6-06 COSM3552287 c.928C>T p.P310S Substitution - Missense 22:20465042-20465042 - T3724 COSM4696491 c.317A>G p.H106R Substitution - Missense 22:20471426-20471426 - LC_S17 COSM1190392 c.172G>C p.G58R Substitution - Missense 22:20489040-20489040 - TCGA-ER-A19G-06 COSM3552283 c.1886A>G p.D629G Substitution - Missense 22:20442092-20442092 - Gp5D COSM3307964 c.1696T>C p.Y566H Substitution - Missense 22:20442282-20442282 - LC_S19 COSM1190391 c.881G>T p.R294L Substitution - Missense 22:20465089-20465089 - HCC161 COSM3708149 c.556G>A p.D186N Substitution - Missense 22:20465414-20465414 - TCGA-28-5208-01 COSM3405521 c.733C>T p.R245W Substitution - Missense 22:20465237-20465237 - TCGA-EE-A2MM-06 COSM1032241 c.1090C>T p.R364* Substitution - Nonsense 22:20464880-20464880 - TCGA-CG-5733-01 COSM4102746 c.766C>T p.R256W Substitution - Missense 22:20465204-20465204 - TCGA-EE-A183-06 COSM3552290 c.518C>T p.T173I Substitution - Missense 22:20465452-20465452 - TCGA-BL-A3JM-01 COSM1307971 c.1146C>G p.I382M Substitution - Missense 22:20457967-20457967 - TCGA-D3-A5GN-06 COSM3552284 c.1670G>A p.G557D Substitution - Missense 22:20442308-20442308 - 1910786 COSM1293138 c.1858A>G p.M620V Substitution - Missense 22:20442120-20442120 - TCGA-AP-A059-01 COSM1032245 c.118C>A p.L40M Substitution - Missense 22:20489094-20489094 - CSCC-45-T COSM4471656 c.1732C>T p.Q578* Substitution - Nonsense 22:20442246-20442246 - TCGA-39-5030-01 COSM725566 c.652C>A p.L218I Substitution - Missense 22:20465318-20465318 - T2974 COSM4696487 c.1586delC p.P529fs*21 Deletion - Frameshift 22:20442392-20442392 - TCGA-AA-3713-01 COSM1414969 c.1278G>A p.W426* Substitution - Nonsense 22:20457835-20457835 - HCC063T COSM5812265 c.1758G>T p.L586L Substitution - coding silent 22:20442220-20442220 - LAU63 COSM234884 c.742C>T p.L248L Substitution - coding silent 22:20465228-20465228 - CSCC-31-T COSM4514265 c.969C>T p.P323P Substitution - coding silent 22:20465001-20465001 - C086 COSM5533466 c.1008C>T p.A336A Substitution - coding silent 22:20464962-20464962 - TCGA-D3-A3ML-06 COSM3552286 c.1050C>T p.F350F Substitution - coding silent 22:20464920-20464920 - CN-AML-08-T COSM5425486 c.1434T>C p.D478D Substitution - coding silent 22:20446548-20446548 - ESO-887 COSM1255970 c.1479C>G p.N493K Substitution - Missense 22:20446503-20446503 - 587342 COSM1212622 c.1051G>A p.V351I Substitution - Missense 22:20464919-20464919 - LUAD-B00416 COSM331231 c.244G>T p.G82* Substitution - Nonsense 22:20471499-20471499 - TCGA-CC-A1HT-01 COSM4928327 c.19T>C p.F7L Substitution - Missense 22:20489193-20489193 - TCGA-EE-A2GC-06 COSM3552289 c.593C>T p.S198F Substitution - Missense 22:20465377-20465377 - SNU-C4 COSM4653452 c.194G>A p.R65H Substitution - Missense 22:20489018-20489018 - SNU-175 COSM3307965 c.1654C>T p.R552C Substitution - Missense 22:20442324-20442324 - BD72T COSM3552290 c.518C>T p.T173I Substitution - Missense 22:20465452-20465452 - HCT8 COSM4634734 c.1622T>C p.V541A Substitution - Missense 22:20442356-20442356 - TCGA-FS-A1ZK-06 COSM3552285 c.1141C>T p.Q381* Substitution - Nonsense 22:20457972-20457972 - Gp2D COSM3307964 c.1696T>C p.Y566H Substitution - Missense 22:20442282-20442282 - LAU63 COSM234883 c.408C>T p.I136I Substitution - coding silent 22:20465562-20465562 - TCGA-F1-6874-01 COSM4102739 c.1444C>T p.R482W Substitution - Missense 22:20446538-20446538 - RKO COSM4648522 c.1811G>T p.G604V Substitution - Missense 22:20442167-20442167 - TCGA-EE-A3AA-06 COSM3552286 c.1050C>T p.F350F Substitution - coding silent 22:20464920-20464920 - TCGA-CM-5860-01 COSM1414970 c.866C>T p.P289L Substitution - Missense 22:20465104-20465104 - tumor_4139696 COSM3357303 c.1845T>C p.F615F Substitution - coding silent 22:20442133-20442133 - 01-P8014 COSM182393 c.1284C>T p.Y428Y Substitution - coding silent 22:20457829-20457829 - TCGA-70-6722-01 COSM725569 c.702G>T p.L234L Substitution - coding silent 22:20465268-20465268 - AOCS-106-1-1 COSM4137338 c.1539+3G>T p.? Unknown 22:20446440-20446440 - TCGA-CM-5861-01 COSM1414966 c.1531G>A p.V511M Substitution - Missense 22:20446451-20446451 - TCGA-BR-6452-01 COSM4102740 c.1348A>G p.I450V Substitution - Missense 22:20446634-20446634 - CHC736T COSM4957612 c.855C>T p.S285S Substitution - coding silent 22:20465115-20465115 - LUAD-RT-S01487 COSM377921 c.429C>G p.L143L Substitution - coding silent 22:20465541-20465541 - TCGA-F5-6465-01 COSM1566004 c.1369G>A p.E457K Substitution - Missense 22:20446613-20446613 - TCGA-D1-A16J-01 COSM1032240 c.1167C>T p.H389H Substitution - coding silent 22:20457946-20457946 - CSCC-40-T COSM4469018 c.1577C>T p.S526F Substitution - Missense 22:20442401-20442401 - TCGA-AD-6964-01 COSM1414968 c.1406G>A p.G469D Substitution - Missense 22:20446576-20446576 - HN_62854 COSM128343 c.1041C>G p.L347L Substitution - coding silent 22:20464929-20464929 - I2L-P7-Tumor-Organoid COSM3308001 c.139G>A p.G47R Substitution - Missense 22:20489073-20489073 - PT35 COSM5914409 c.1009C>T p.P337S Substitution - Missense 22:20464961-20464961 - TCGA-A4-8517-01 COSM3992031 c.1833C>G p.A611A Substitution - coding silent 22:20442145-20442145 - TCGA-BR-A4QL-01 COSM3307962 c.1803G>A p.P601P Substitution - coding silent 22:20442175-20442175 - STC252 COSM5057686 c.246A>G p.G82G Substitution - coding silent 22:20471497-20471497 - HCC2998 COSM3307967 c.1638C>A p.I546I Substitution - coding silent 22:20442340-20442340 - CSCC-41-T COSM4504150 c.657C>T p.L219L Substitution - coding silent 22:20465313-20465313 - T3535 COSM4696489 c.1324G>A p.A442T Substitution - Missense 22:20446658-20446658 - T3152 COSM4696490 c.707A>C p.E236A Substitution - Missense 22:20465263-20465263 - 1N60-VS-1T60 COSM4977756 c.1708_1710delAAG p.K570delK Deletion - In frame 22:20442268-20442270 - TCGA-AP-A0LM-01 COSM1032244 c.183C>T p.I61I Substitution - coding silent 22:20489029-20489029 - TCGA-BR-8487-01 COSM4102737 c.1602C>T p.H534H Substitution - coding silent 22:20442376-20442376 - TCGA-EA-A5O9-01 COSM4851951 c.1655G>A p.R552H Substitution - Missense 22:20442323-20442323 - TCGA-G4-6586-01 COSM1414972 c.583_585delAAG p.K195delK Deletion - In frame 22:20465385-20465387 - TCGA-D5-6928-01 COSM1414971 c.767G>A p.R256Q Substitution - Missense 22:20465203-20465203 - TCGA-FW-A3TV-06 COSM3552291 c.349C>T p.L117L Substitution - coding silent 22:20471394-20471394 - OSCC-GB_00410111 COSM3713620 c.711C>T p.P237P Substitution - coding silent 22:20465259-20465259 - HCC161T COSM3708149 c.556G>A p.D186N Substitution - Missense 22:20465414-20465414 - T3225 COSM4102739 c.1444C>T p.R482W Substitution - Missense 22:20446538-20446538 - TCGA-BR-4292-01 COSM4102745 c.897C>T p.C299C Substitution - coding silent 22:20465073-20465073 - 16802 COSM48475 c.53C>T p.S18L Substitution - Missense 22:20489159-20489159 - CSCC-27-T COSM4501797 c.598C>T p.L200F Substitution - Missense 22:20465372-20465372 - RK121_C01 COSM3740357 c.881G>A p.R294Q Substitution - Missense 22:20465089-20465089 - 215 COSM4424531 c.981G>T p.E327D Substitution - Missense 22:20464989-20464989 - TCGA-B5-A11E-01 COSM1032237 c.1820A>G p.D607G Substitution - Missense 22:20442158-20442158 - CHC736T COSM4957612 c.855C>T p.S285S Substitution - coding silent 22:20465115-20465115 - TCGA-BR-6452-01 COSM4102741 c.1328C>T p.T443M Substitution - Missense 22:20446654-20446654 - TCGA-FW-A3R5-06 COSM3912414 c.591C>T p.Y197Y Substitution - coding silent 22:20465379-20465379 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517419 22q11.21

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.R399M c.1196G>T 22 20812204 LUSC C A Missense p.R595L c.1784G>T 22 20796481 BRCA C A Synonymous p.A345A c.1035G>T 22 20819222 LUAD C A Synonymous p.L234L c.702G>T 22 20819555 LUSC CC AA Missense p.G81L c.241_242delinsTT 22 20825788 CM C T IntronicSNV . c.1306-3872G>A 22 20804835 CM C T IntronicSNV . c.1306-4115G>A 22 20805078 CM C T Missense p.A35T c.103G>A 22 20843396 HNSC C T Missense p.A440T c.1318G>A 22 20800951 STAD C T Missense p.G95D c.284G>A 22 20825746 CM C T Missense p.R166H c.497G>A 22 20819760 LUSC C T Missense p.R294Q c.881G>A 22 20819376 STAD C T Missense p.R595H c.1784G>A 22 20796481 STAD C T Synonymous p.A345A c.1035G>A 22 20819222 STAD C T Synonymous p.R482R c.1446G>A 22 20800823 HNSC G A IntronicSNV . c.1306-4363C>T 22 20805326 CM G A Missense p.L241F c.721C>T 22 20819536 CM G A Missense p.P265L c.794C>T 22 20819463 CM G A Missense p.P310S c.928C>T 22 20819329 CM G A Missense p.P374L c.1121C>T 22 20812279 LUAD G A Missense p.R245W c.733C>T 22 20819524 GBM G A Missense p.R256W c.766C>T 22 20819491 STAD G A Missense p.R482W c.1444C>T 22 20800825 STAD G A Missense p.S18L c.53C>T 22 20843446 LUAD G A Missense p.S198F c.593C>T 22 20819664 CM G A Missense p.T173I c.518C>T 22 20819739 CM G A Missense p.T8I c.23C>T 22 20843476 CM G A Nonsense p.Q226* c.676C>T 22 20819581 LUSC G A Nonsense p.Q381* c.1141C>T 22 20812259 CM G A Nonsense p.R364* c.1090C>T 22 20819167 CM G A Synonymous p.C299C c.897C>T 22 20819360 STAD G A Synonymous p.F350F c.1050C>T 22 20819207 CM G A Synonymous p.H389H c.1167C>T 22 20812233 UCEC G A Synonymous p.P323P c.969C>T 22 20819288 CM G A Synonymous p.P594P c.1782C>T 22 20796483 CM G A Synonymous p.S116S c.348C>T 22 20825682 CM G A Synonymous p.S308S c.924C>T 22 20819333 CM G A Synonymous p.S425S c.1275C>T 22 20812125 CM G C Missense p.I382M c.1146C>G 22 20812254 BLCA G C Missense p.L597V c.1789C>G 22 20796476 LUAD G C Missense p.N493K c.1479C>G 22 20800790 ESCA G C Synonymous p.L347L c.1041C>G 22 20819216 HNSC G T Missense p.L218I c.652C>A 22 20819605 LUSC G T Missense p.P17H c.50C>A 22 20843449 RCCC G T Nonsense p.S233* c.698C>A 22 20819559 LUSC G T Synonymous p.T110T c.330C>A 22 20825700 STAD T A Missense p.I104F c.310A>T 22 20825720 CM T C Missense p.D614G c.1841A>G 22 20796424 CM T C Missense p.D629G c.1886A>G 22 20796379 CM T C Missense p.T243A c.727A>G 22 20819530 STAD