Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 46289388 46289388 + Frame_Shift_Del DEL G G - TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr19:46289388delG c.1366delC c.(1366-1368)ctgfs p.L456fs ACC 19 46289402 46289402 + Missense_Mutation SNP T T G TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr19:46289402T>G c.1352A>C c.(1351-1353)tAc>tCc p.Y451S ACC 19 46289542 46289544 + In_Frame_Del DEL CTC CTC - TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr19:46289542_46289544delCTC c.1210_1212delGAG c.(1210-1212)gagdel p.E404del BLCA 19 46289404 46289404 + Silent SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr19:46289404G>C c.1350C>G c.(1348-1350)ctC>ctG p.L450L BLCA 19 46289456 46289456 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr19:46289456G>A c.1298C>T c.(1297-1299)tCg>tTg p.S433L BLCA 19 46289785 46289785 + Silent SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr19:46289785C>T c.969G>A c.(967-969)aaG>aaA p.K323K BLCA 19 46290007 46290007 + Silent SNP C C T TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr19:46290007C>T c.747G>A c.(745-747)tcG>tcA p.S249S BLCA 19 46290118 46290118 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr19:46290118G>T c.636C>A c.(634-636)gaC>gaA p.D212E BLCA 19 46294229 46294229 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:46294229G>C c.558C>G c.(556-558)ttC>ttG p.F186L BLCA 19 46295603 46295603 + Missense_Mutation SNP G G T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr19:46295603G>T c.412C>A c.(412-414)Cca>Aca p.P138T BRCA 19 46294321 46294321 + Missense_Mutation SNP C C T TCGA-C8-A133-01A-32D-A12B-09 TCGA-C8-A133-10A-01D-A12B-09 g.chr19:46294321C>T c.466G>A c.(466-468)Gac>Aac p.D156N CESC 19 46289752 46289752 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr19:46289752C>G c.1002G>C c.(1000-1002)tgG>tgC p.W334C CESC 19 46289788 46289788 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr19:46289788C>T c.966G>A c.(964-966)atG>atA p.M322I CESC 19 46289821 46289821 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr19:46289821G>A c.933C>T c.(931-933)ttC>ttT p.F311F CESC 19 46290067 46290067 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr19:46290067G>C c.687C>G c.(685-687)ttC>ttG p.F229L COAD 19 46288968 46288968 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:46288968G>A c.1786C>T c.(1786-1788)Ctt>Ttt p.L596F COAD 19 46289700 46289700 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr19:46289700C>T c.1054G>A c.(1054-1056)Gtg>Atg p.V352M COAD 19 46289743 46289743 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:46289743G>A c.1011C>T c.(1009-1011)gaC>gaT p.D337D COAD 19 46289927 46289927 + Missense_Mutation SNP G G T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr19:46289927G>T c.827C>A c.(826-828)cCg>cAg p.P276Q COAD 19 46294282 46294282 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr19:46294282C>T c.505G>A c.(505-507)Gat>Aat p.D169N COAD 19 46294287 46294287 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr19:46294287C>T c.500G>A c.(499-501)tGc>tAc p.C167Y COAD 19 46295620 46295620 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr19:46295620C>T c.395G>A c.(394-396)cGt>cAt p.R132H COAD 19 46295646 46295647 + Frame_Shift_Ins INS - - C TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr19:46295646_46295647insC c.368_369insG c.(367-369)ggafs p.G123fs COADREAD 19 46288968 46288968 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:46288968G>A c.1786C>T c.(1786-1788)Ctt>Ttt p.L596F COADREAD 19 46289503 46289503 + Silent SNP C C T TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr19:46289503C>T c.1251G>A c.(1249-1251)ccG>ccA p.P417P COADREAD 19 46289700 46289700 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr19:46289700C>T c.1054G>A c.(1054-1056)Gtg>Atg p.V352M COADREAD 19 46289743 46289743 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:46289743G>A c.1011C>T c.(1009-1011)gaC>gaT p.D337D COADREAD 19 46289815 46289815 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:46289815G>A c.939C>T c.(937-939)ttC>ttT p.F313F COADREAD 19 46289927 46289927 + Missense_Mutation SNP G G T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr19:46289927G>T c.827C>A c.(826-828)cCg>cAg p.P276Q COADREAD 19 46294282 46294282 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr19:46294282C>T c.505G>A c.(505-507)Gat>Aat p.D169N COADREAD 19 46294287 46294287 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr19:46294287C>T c.500G>A c.(499-501)tGc>tAc p.C167Y COADREAD 19 46295620 46295620 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr19:46295620C>T c.395G>A c.(394-396)cGt>cAt p.R132H COADREAD 19 46295646 46295647 + Frame_Shift_Ins INS - - C TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr19:46295646_46295647insC c.368_369insG c.(367-369)ggafs p.G123fs ESCA 19 46294166 46294166 + Missense_Mutation SNP C C A TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr19:46294166C>A c.621G>T c.(619-621)gaG>gaT p.E207D GBMLGG 19 46289657 46289657 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:46289657C>A c.1097G>T c.(1096-1098)gGc>gTc p.G366V HNSC 19 46289271 46289271 + Missense_Mutation SNP T T A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr19:46289271T>A c.1483A>T c.(1483-1485)Agt>Tgt p.S495C HNSC 19 46289614 46289614 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr19:46289614G>A c.1140C>T c.(1138-1140)acC>acT p.T380T HNSC 19 46289911 46289911 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 g.chr19:46289911C>T c.843G>A c.(841-843)gcG>gcA p.A281A HNSC 19 46290016 46290016 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr19:46290016G>A c.738C>T c.(736-738)ccC>ccT p.P246P KICH 19 46289153 46289154 + Frame_Shift_Ins INS - - G TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr19:46289153_46289154insG c.1600_1601insC c.(1600-1602)cggfs p.R534fs KIPAN 19 46289153 46289154 + Frame_Shift_Ins INS - - G TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr19:46289153_46289154insG c.1600_1601insC c.(1600-1602)cggfs p.R534fs KIPAN 19 46289265 46289265 + Missense_Mutation SNP G G A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr19:46289265G>A c.1489C>T c.(1489-1491)Ccg>Tcg p.P497S KIPAN 19 46290079 46290079 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr19:46290079C>T c.675G>A c.(673-675)tcG>tcA p.S225S KIPAN 19 46294225 46294225 + Missense_Mutation SNP C C A TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr19:46294225C>A c.562G>T c.(562-564)Gcg>Tcg p.A188S KIRC 19 46290079 46290079 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr19:46290079C>T c.675G>A c.(673-675)tcG>tcA p.S225S KIRC 19 46294225 46294225 + Missense_Mutation SNP C C A TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr19:46294225C>A c.562G>T c.(562-564)Gcg>Tcg p.A188S KIRP 19 46289265 46289265 + Missense_Mutation SNP G G A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr19:46289265G>A c.1489C>T c.(1489-1491)Ccg>Tcg p.P497S LGG 19 46289657 46289657 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:46289657C>A c.1097G>T c.(1096-1098)gGc>gTc p.G366V LUAD 19 46287938 46287938 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr19:46287938T>A c.1938A>T c.(1936-1938)gaA>gaT p.E646D LUAD 19 46287940 46287940 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr19:46287940C>T c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K LUAD 19 46287967 46287967 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr19:46287967C>T c.1909G>A c.(1909-1911)Gac>Aac p.D637N LUAD 19 46289604 46289604 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr19:46289604C>G c.1150G>C c.(1150-1152)Gag>Cag p.E384Q LUAD 19 46289666 46289666 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr19:46289666C>G c.1088G>C c.(1087-1089)cGa>cCa p.R363P LUAD 19 46289820 46289820 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr19:46289820G>A c.934C>T c.(934-936)Cac>Tac p.H312Y LUAD 19 46289893 46289893 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr19:46289893G>C c.861C>G c.(859-861)ctC>ctG p.L287L LUAD 19 46294313 46294313 + Frame_Shift_Del DEL C C - TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr19:46294313delC c.474delG c.(472-474)cggfs p.R158fs LUAD 19 46295691 46295691 + Silent SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr19:46295691C>A c.324G>T c.(322-324)ggG>ggT p.G108G LUSC 19 46289601 46289602 + Nonsense_Mutation DNP CC CC AA TCGA-60-2711-01A-01D-1522-08 TCGA-60-2711-11A-01D-1522-08 g.chr19:46289601_46289602CC>AA c.1152_1153GG>TT c.(1150-1155)gaGGag>gaTTag p.384_385EE>D* PAAD 19 46289829 46289829 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr19:46289829G>A c.925C>T c.(925-927)Cgc>Tgc p.R309C PCPG 19 46290019 46290019 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 g.chr19:46290019G>C c.735C>G c.(733-735)caC>caG p.H245Q PRAD 19 46289388 46289388 + Frame_Shift_Del DEL G G - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:46289388delG c.1366delC c.(1366-1368)ctgfs p.L456fs PRAD 19 46289586 46289586 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:46289586C>T c.1168G>A c.(1168-1170)Gcc>Acc p.A390T READ 19 46289503 46289503 + Silent SNP C C T TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr19:46289503C>T c.1251G>A c.(1249-1251)ccG>ccA p.P417P READ 19 46289815 46289815 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:46289815G>A c.939C>T c.(937-939)ttC>ttT p.F313F SARC 19 46289542 46289544 + In_Frame_Del DEL CTC CTC - TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 g.chr19:46289542_46289544delCTC c.1210_1212delGAG c.(1210-1212)gagdel p.E404del SKCM 19 46288921 46288921 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:46288921G>A c.1833C>T c.(1831-1833)ttC>ttT p.F611F SKCM 19 46288929 46288929 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr19:46288929G>A c.1825C>T c.(1825-1827)Ctc>Ttc p.L609F SKCM 19 46288930 46288930 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr19:46288930G>A c.1824C>T c.(1822-1824)gtC>gtT p.V608V SKCM 19 46289185 46289185 + Silent SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr19:46289185G>A c.1569C>T c.(1567-1569)ttC>ttT p.F523F SKCM 19 46289231 46289231 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr19:46289231G>A c.1523C>T c.(1522-1524)cCg>cTg p.P508L SKCM 19 46289232 46289232 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr19:46289232G>A c.1522C>T c.(1522-1524)Ccg>Tcg p.P508S SKCM 19 46289281 46289281 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr19:46289281G>A c.1473C>T c.(1471-1473)tcC>tcT p.S491S SKCM 19 46289452 46289452 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr19:46289452C>T c.1302G>A c.(1300-1302)gcG>gcA p.A434A SKCM 19 46289477 46289477 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr19:46289477G>A c.1277C>T c.(1276-1278)tCc>tTc p.S426F SKCM 19 46289622 46289622 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr19:46289622G>A c.1132C>T c.(1132-1134)Ccc>Tcc p.P378S SKCM 19 46289693 46289693 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr19:46289693G>A c.1061C>T c.(1060-1062)tCc>tTc p.S354F SKCM 19 46289702 46289702 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr19:46289702G>A c.1052C>T c.(1051-1053)aCc>aTc p.T351I SKCM 19 46289715 46289715 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr19:46289715C>T c.1039G>A c.(1039-1041)Gat>Aat p.D347N SKCM 19 46289820 46289820 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr19:46289820G>A c.934C>T c.(934-936)Cac>Tac p.H312Y SKCM 19 46289876 46289876 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:46289876G>A c.878C>T c.(877-879)tCg>tTg p.S293L SKCM 19 46289988 46289988 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:46289988G>A c.766C>T c.(766-768)Ctg>Ttg p.L256L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 46290118 46290118 single base substitution G T downstream_gene_variant BLCA-US 19 46290118 46290118 single base substitution G T exon_variant BLCA-US 19 46290118 46290118 single base substitution G T missense_variant D212E 636C>A BLCA-US 19 46290118 46290118 single base substitution G T upstream_gene_variant BLCA-US 19 46294229 46294229 single base substitution G C exon_variant BLCA-US 19 46294229 46294229 single base substitution G C missense_variant F186L 558C>G BLCA-US 19 46294229 46294229 single base substitution G C missense_variant F25L 75C>G BLCA-US 19 46294229 46294229 single base substitution G C missense_variant F79L 237C>G BLCA-US 19 46294229 46294229 single base substitution G C upstream_gene_variant BLCA-US 19 46299147 46299149 deletion of <=200bp CCT - upstream_gene_variant BRCA-EU 19 46283075 46283075 single base substitution G T downstream_gene_variant BRCA-EU 19 46284194 46284194 single base substitution C A downstream_gene_variant BRCA-EU 19 46284216 46284216 single base substitution T A downstream_gene_variant BRCA-EU 19 46284621 46284621 single base substitution C A downstream_gene_variant BRCA-EU 19 46284877 46284877 single base substitution G A downstream_gene_variant BRCA-EU 19 46285002 46285002 single base substitution G C downstream_gene_variant BRCA-EU 19 46287351 46287351 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 46287351 46287351 single base substitution G C downstream_gene_variant BRCA-EU 19 46288541 46288541 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 46288541 46288541 single base substitution C T downstream_gene_variant BRCA-EU 19 46288541 46288541 single base substitution C T intron_variant BRCA-EU 19 46289458 46289458 single base substitution G A downstream_gene_variant BRCA-EU 19 46289458 46289458 single base substitution G A synonymous_variant G432G 1296C>T BRCA-EU 19 46289458 46289458 single base substitution G A upstream_gene_variant BRCA-EU 19 46290548 46290548 single base substitution C A downstream_gene_variant BRCA-EU 19 46290548 46290548 single base substitution C A intron_variant BRCA-EU 19 46290548 46290548 single base substitution C A upstream_gene_variant BRCA-EU 19 46291583 46291583 single base substitution G C downstream_gene_variant BRCA-EU 19 46291583 46291583 single base substitution G C intron_variant BRCA-EU 19 46291583 46291583 single base substitution G C upstream_gene_variant BRCA-EU 19 46291799 46291799 single base substitution G T downstream_gene_variant BRCA-EU 19 46291799 46291799 single base substitution G T intron_variant BRCA-EU 19 46291799 46291799 single base substitution G T upstream_gene_variant BRCA-EU 19 46292008 46292008 single base substitution G C downstream_gene_variant BRCA-EU 19 46292008 46292008 single base substitution G C intron_variant BRCA-EU 19 46292008 46292008 single base substitution G C upstream_gene_variant BRCA-EU 19 46292797 46292797 single base substitution C T downstream_gene_variant BRCA-EU 19 46292797 46292797 single base substitution C T exon_variant BRCA-EU 19 46292797 46292797 single base substitution C T intron_variant BRCA-EU 19 46292797 46292797 single base substitution C T upstream_gene_variant BRCA-EU 19 46293201 46293201 single base substitution G C downstream_gene_variant BRCA-EU 19 46293201 46293201 single base substitution G C exon_variant BRCA-EU 19 46293201 46293201 single base substitution G C intron_variant BRCA-EU 19 46293201 46293201 single base substitution G C upstream_gene_variant BRCA-EU 19 46293667 46293667 single base substitution T C downstream_gene_variant BRCA-EU 19 46293667 46293667 single base substitution T C intron_variant BRCA-EU 19 46293667 46293667 single base substitution T C upstream_gene_variant BRCA-EU 19 46294172 46294172 single base substitution G A exon_variant BRCA-EU 19 46294172 46294172 single base substitution G A synonymous_variant F205F 615C>T BRCA-EU 19 46294172 46294172 single base substitution G A synonymous_variant F44F 132C>T BRCA-EU 19 46294172 46294172 single base substitution G A synonymous_variant F98F 294C>T BRCA-EU 19 46294172 46294172 single base substitution G A upstream_gene_variant BRCA-EU 19 46294274 46294274 single base substitution G T exon_variant BRCA-EU 19 46294274 46294274 single base substitution G T missense_variant N10K 30C>A BRCA-EU 19 46294274 46294274 single base substitution G T missense_variant N171K 513C>A BRCA-EU 19 46294274 46294274 single base substitution G T missense_variant N64K 192C>A BRCA-EU 19 46294274 46294274 single base substitution G T upstream_gene_variant BRCA-EU 19 46294845 46294845 single base substitution C T intron_variant BRCA-EU 19 46294845 46294845 single base substitution C T upstream_gene_variant BRCA-EU 19 46295528 46295528 single base substitution C T intron_variant BRCA-EU 19 46295528 46295528 single base substitution C T upstream_gene_variant BRCA-EU 19 46300198 46300198 single base substitution G A upstream_gene_variant BRCA-EU 19 46300451 46300451 single base substitution G A upstream_gene_variant BRCA-EU 19 46300674 46300674 single base substitution C T upstream_gene_variant BRCA-EU 19 46300675 46300675 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 46300997 46300997 single base substitution G A upstream_gene_variant BRCA-FR 19 46284493 46284493 single base substitution G A downstream_gene_variant BRCA-FR 19 46287351 46287351 single base substitution G C 3_prime_UTR_variant BRCA-FR 19 46287351 46287351 single base substitution G C downstream_gene_variant BRCA-FR 19 46292797 46292797 single base substitution C T downstream_gene_variant BRCA-FR 19 46292797 46292797 single base substitution C T exon_variant BRCA-FR 19 46292797 46292797 single base substitution C T intron_variant BRCA-FR 19 46292797 46292797 single base substitution C T upstream_gene_variant BRCA-FR 19 46294458 46294458 single base substitution G T intron_variant BRCA-FR 19 46294458 46294458 single base substitution G T upstream_gene_variant BRCA-UK 19 46283166 46283166 single base substitution G T downstream_gene_variant BRCA-UK 19 46293667 46293667 single base substitution T C downstream_gene_variant BRCA-UK 19 46293667 46293667 single base substitution T C intron_variant BRCA-UK 19 46293667 46293667 single base substitution T C upstream_gene_variant BRCA-US 19 46282601 46282601 single base substitution T G downstream_gene_variant BRCA-US 19 46283223 46283223 single base substitution C T downstream_gene_variant BRCA-US 19 46294321 46294321 single base substitution C T exon_variant BRCA-US 19 46294321 46294321 single base substitution C T missense_variant D156N 466G>A BRCA-US 19 46294321 46294321 single base substitution C T missense_variant D49N 145G>A BRCA-US 19 46294321 46294321 single base substitution C T upstream_gene_variant BRCA-US 19 46299147 46299149 deletion of <=200bp CCT - upstream_gene_variant BRCA-US 19 46299287 46299287 single base substitution A C upstream_gene_variant BTCA-JP 19 46281551 46281551 single base substitution G A downstream_gene_variant BTCA-JP 19 46282868 46282868 single base substitution C T downstream_gene_variant BTCA-JP 19 46283130 46283130 insertion of <=200bp - G downstream_gene_variant BTCA-JP 19 46288843 46288843 single base substitution G A downstream_gene_variant BTCA-JP 19 46288843 46288843 single base substitution G A intron_variant BTCA-JP 19 46288843 46288843 single base substitution G A synonymous_variant G108G 324C>T BTCA-JP 19 46288997 46288997 single base substitution C T downstream_gene_variant BTCA-JP 19 46288997 46288997 single base substitution C T missense_variant R57H 170G>A BTCA-JP 19 46288997 46288997 single base substitution C T missense_variant R586H 1757G>A BTCA-JP 19 46288997 46288997 single base substitution C T upstream_gene_variant BTCA-JP 19 46289029 46289029 single base substitution G A downstream_gene_variant BTCA-JP 19 46289029 46289029 single base substitution G A synonymous_variant P46P 138C>T BTCA-JP 19 46289029 46289029 single base substitution G A synonymous_variant P575P 1725C>T BTCA-JP 19 46289029 46289029 single base substitution G A upstream_gene_variant BTCA-JP 19 46289088 46289088 single base substitution C T downstream_gene_variant BTCA-JP 19 46289088 46289088 single base substitution C T missense_variant G27S 79G>A BTCA-JP 19 46289088 46289088 single base substitution C T missense_variant G556S 1666G>A BTCA-JP 19 46289088 46289088 single base substitution C T upstream_gene_variant BTCA-JP 19 46289388 46289388 insertion of <=200bp - G downstream_gene_variant BTCA-JP 19 46289388 46289388 insertion of <=200bp - G frameshift_variant L456P? BTCA-JP 19 46289388 46289388 insertion of <=200bp - G upstream_gene_variant BTCA-JP 19 46289556 46289556 single base substitution C T downstream_gene_variant BTCA-JP 19 46289556 46289556 single base substitution C T missense_variant E400K 1198G>A BTCA-JP 19 46289556 46289556 single base substitution C T upstream_gene_variant BTCA-JP 19 46290186 46290186 single base substitution C A downstream_gene_variant BTCA-JP 19 46290186 46290186 single base substitution C A exon_variant BTCA-JP 19 46290186 46290186 single base substitution C A intron_variant BTCA-JP 19 46290186 46290186 single base substitution C A upstream_gene_variant BTCA-JP 19 46294351 46294351 single base substitution G A intron_variant BTCA-JP 19 46294351 46294351 single base substitution G A splice_region_variant BTCA-JP 19 46294351 46294351 single base substitution G A upstream_gene_variant CESC-US 19 46285499 46285499 single base substitution C T downstream_gene_variant CESC-US 19 46289752 46289752 single base substitution C G downstream_gene_variant CESC-US 19 46289752 46289752 single base substitution C G missense_variant W334C 1002G>C CESC-US 19 46289752 46289752 single base substitution C G upstream_gene_variant CESC-US 19 46289788 46289788 single base substitution C T downstream_gene_variant CESC-US 19 46289788 46289788 single base substitution C T missense_variant M322I 966G>A CESC-US 19 46289788 46289788 single base substitution C T upstream_gene_variant CESC-US 19 46289821 46289821 single base substitution G A downstream_gene_variant CESC-US 19 46289821 46289821 single base substitution G A synonymous_variant F311F 933C>T CESC-US 19 46289821 46289821 single base substitution G A upstream_gene_variant CESC-US 19 46290067 46290067 single base substitution G C downstream_gene_variant CESC-US 19 46290067 46290067 single base substitution G C missense_variant F229L 687C>G CESC-US 19 46290067 46290067 single base substitution G C upstream_gene_variant CLLE-ES 19 46284620 46284620 single base substitution T C downstream_gene_variant CLLE-ES 19 46291525 46291525 single base substitution A T downstream_gene_variant CLLE-ES 19 46291525 46291525 single base substitution A T intron_variant CLLE-ES 19 46291525 46291525 single base substitution A T upstream_gene_variant COAD-US 19 46281418 46281418 single base substitution G A downstream_gene_variant COAD-US 19 46281768 46281768 single base substitution C T downstream_gene_variant COAD-US 19 46281802 46281802 single base substitution G A downstream_gene_variant COAD-US 19 46281817 46281817 single base substitution G A downstream_gene_variant COAD-US 19 46281850 46281850 single base substitution C A downstream_gene_variant COAD-US 19 46282773 46282773 single base substitution A G downstream_gene_variant COAD-US 19 46283072 46283072 single base substitution C T downstream_gene_variant COAD-US 19 46283130 46283130 deletion of <=200bp G - downstream_gene_variant COAD-US 19 46283141 46283141 deletion of <=200bp G - downstream_gene_variant COAD-US 19 46288968 46288968 single base substitution G A downstream_gene_variant COAD-US 19 46288968 46288968 single base substitution G A missense_variant L596F 1786C>T COAD-US 19 46288968 46288968 single base substitution G A missense_variant L67F 199C>T COAD-US 19 46288968 46288968 single base substitution G A upstream_gene_variant COAD-US 19 46289392 46289392 single base substitution G C downstream_gene_variant COAD-US 19 46289392 46289392 single base substitution G C synonymous_variant P454P 1362C>G COAD-US 19 46289392 46289392 single base substitution G C upstream_gene_variant COAD-US 19 46289503 46289503 single base substitution C T downstream_gene_variant COAD-US 19 46289503 46289503 single base substitution C T synonymous_variant P417P 1251G>A COAD-US 19 46289503 46289503 single base substitution C T upstream_gene_variant COAD-US 19 46289509 46289509 single base substitution G A downstream_gene_variant COAD-US 19 46289509 46289509 single base substitution G A synonymous_variant G415G 1245C>T COAD-US 19 46289509 46289509 single base substitution G A upstream_gene_variant COAD-US 19 46289700 46289700 single base substitution C T downstream_gene_variant COAD-US 19 46289700 46289700 single base substitution C T missense_variant V352M 1054G>A COAD-US 19 46289700 46289700 single base substitution C T upstream_gene_variant COAD-US 19 46289927 46289927 single base substitution G T downstream_gene_variant COAD-US 19 46289927 46289927 single base substitution G T missense_variant P276Q 827C>A COAD-US 19 46289927 46289927 single base substitution G T upstream_gene_variant COAD-US 19 46299135 46299135 single base substitution C T upstream_gene_variant COCA-CN 19 46282618 46282618 single base substitution C T downstream_gene_variant COCA-CN 19 46282783 46282783 single base substitution G A downstream_gene_variant COCA-CN 19 46287310 46287310 single base substitution C T 3_prime_UTR_variant COCA-CN 19 46287310 46287310 single base substitution C T downstream_gene_variant COCA-CN 19 46287816 46287816 single base substitution G A 3_prime_UTR_variant COCA-CN 19 46287816 46287816 single base substitution G A downstream_gene_variant COCA-CN 19 46287816 46287816 single base substitution G A intron_variant COCA-CN 19 46289028 46289028 single base substitution C T downstream_gene_variant COCA-CN 19 46289028 46289028 single base substitution C T missense_variant A47T 139G>A COCA-CN 19 46289028 46289028 single base substitution C T missense_variant A576T 1726G>A COCA-CN 19 46289028 46289028 single base substitution C T upstream_gene_variant COCA-CN 19 46289712 46289712 single base substitution C A downstream_gene_variant COCA-CN 19 46289712 46289712 single base substitution C A missense_variant D348Y 1042G>T COCA-CN 19 46289712 46289712 single base substitution C A upstream_gene_variant COCA-CN 19 46295462 46295462 single base substitution C A intron_variant COCA-CN 19 46295462 46295462 single base substitution C A upstream_gene_variant EOPC-DE 19 46297888 46297888 single base substitution G C upstream_gene_variant EOPC-DE 19 46297901 46297901 single base substitution A G upstream_gene_variant ESAD-UK 19 46282370 46282370 single base substitution T A downstream_gene_variant ESAD-UK 19 46285870 46285870 single base substitution A T downstream_gene_variant ESAD-UK 19 46288853 46288853 single base substitution G A downstream_gene_variant ESAD-UK 19 46288853 46288853 single base substitution G A missense_variant A105V 314C>T ESAD-UK 19 46288853 46288853 single base substitution G A missense_variant A22V 65C>T ESAD-UK 19 46288853 46288853 single base substitution G A missense_variant A634V 1901C>T ESAD-UK 19 46289803 46289803 single base substitution G A downstream_gene_variant ESAD-UK 19 46289803 46289803 single base substitution G A synonymous_variant L317L 951C>T ESAD-UK 19 46289803 46289803 single base substitution G A upstream_gene_variant ESAD-UK 19 46290124 46290124 single base substitution C T downstream_gene_variant ESAD-UK 19 46290124 46290124 single base substitution C T exon_variant ESAD-UK 19 46290124 46290124 single base substitution C T synonymous_variant L210L 630G>A ESAD-UK 19 46290124 46290124 single base substitution C T upstream_gene_variant ESAD-UK 19 46293083 46293083 single base substitution G A downstream_gene_variant ESAD-UK 19 46293083 46293083 single base substitution G A exon_variant ESAD-UK 19 46293083 46293083 single base substitution G A intron_variant ESAD-UK 19 46293083 46293083 single base substitution G A upstream_gene_variant ESAD-UK 19 46293768 46293768 single base substitution G A downstream_gene_variant ESAD-UK 19 46293768 46293768 single base substitution G A intron_variant ESAD-UK 19 46293768 46293768 single base substitution G A upstream_gene_variant ESAD-UK 19 46294327 46294327 single base substitution G A exon_variant ESAD-UK 19 46294327 46294327 single base substitution G A missense_variant P154S 460C>T ESAD-UK 19 46294327 46294327 single base substitution G A missense_variant P47S 139C>T ESAD-UK 19 46294327 46294327 single base substitution G A upstream_gene_variant ESAD-UK 19 46297061 46297061 single base substitution A C upstream_gene_variant ESAD-UK 19 46297358 46297358 single base substitution C A upstream_gene_variant ESAD-UK 19 46297502 46297502 single base substitution G T upstream_gene_variant ESAD-UK 19 46299300 46299300 single base substitution G T upstream_gene_variant ESCA-CN 19 46289341 46289341 single base substitution C T downstream_gene_variant ESCA-CN 19 46289341 46289341 single base substitution C T synonymous_variant P471P 1413G>A ESCA-CN 19 46289341 46289341 single base substitution C T upstream_gene_variant KIRC-US 19 46281778 46281778 single base substitution G A downstream_gene_variant KIRP-US 19 46289265 46289265 single base substitution G A downstream_gene_variant KIRP-US 19 46289265 46289265 single base substitution G A missense_variant P497S 1489C>T KIRP-US 19 46289265 46289265 single base substitution G A upstream_gene_variant KIRP-US 19 46289396 46289396 single base substitution T G downstream_gene_variant KIRP-US 19 46289396 46289396 single base substitution T G missense_variant H453P 1358A>C KIRP-US 19 46289396 46289396 single base substitution T G upstream_gene_variant KIRP-US 19 46294234 46294234 single base substitution C A exon_variant KIRP-US 19 46294234 46294234 single base substitution C A missense_variant G185C 553G>T KIRP-US 19 46294234 46294234 single base substitution C A missense_variant G24C 70G>T KIRP-US 19 46294234 46294234 single base substitution C A missense_variant G78C 232G>T KIRP-US 19 46294234 46294234 single base substitution C A upstream_gene_variant LAML-KR 19 46282503 46282503 single base substitution A C downstream_gene_variant LAML-KR 19 46286276 46286276 single base substitution T G 3_prime_UTR_variant LAML-KR 19 46286276 46286276 single base substitution T G downstream_gene_variant LAML-KR 19 46293387 46293387 single base substitution C T downstream_gene_variant LAML-KR 19 46293387 46293387 single base substitution C T exon_variant LAML-KR 19 46293387 46293387 single base substitution C T intron_variant LAML-KR 19 46293387 46293387 single base substitution C T upstream_gene_variant LAML-KR 19 46293395 46293395 single base substitution C T downstream_gene_variant LAML-KR 19 46293395 46293395 single base substitution C T exon_variant LAML-KR 19 46293395 46293395 single base substitution C T intron_variant LAML-KR 19 46293395 46293395 single base substitution C T upstream_gene_variant LGG-US 19 46299147 46299149 deletion of <=200bp CCT - upstream_gene_variant LICA-CN 19 46289335 46289335 single base substitution G A downstream_gene_variant LICA-CN 19 46289335 46289335 single base substitution G A synonymous_variant A473A 1419C>T LICA-CN 19 46289335 46289335 single base substitution G A upstream_gene_variant LICA-CN 19 46289371 46289371 single base substitution G A downstream_gene_variant LICA-CN 19 46289371 46289371 single base substitution G A synonymous_variant T461T 1383C>T LICA-CN 19 46289371 46289371 single base substitution G A upstream_gene_variant LICA-FR 19 46289264 46289264 single base substitution G A downstream_gene_variant LICA-FR 19 46289264 46289264 single base substitution G A missense_variant P497L 1490C>T LICA-FR 19 46289264 46289264 single base substitution G A upstream_gene_variant LICA-FR 19 46289327 46289327 single base substitution G C downstream_gene_variant LICA-FR 19 46289327 46289327 single base substitution G C missense_variant S476W 1427C>G LICA-FR 19 46289327 46289327 single base substitution G C upstream_gene_variant LICA-FR 19 46289748 46289748 single base substitution G T downstream_gene_variant LICA-FR 19 46289748 46289748 single base substitution G T missense_variant P336T 1006C>A LICA-FR 19 46289748 46289748 single base substitution G T upstream_gene_variant LICA-FR 19 46292347 46292347 single base substitution G A downstream_gene_variant LICA-FR 19 46292347 46292347 single base substitution G A intron_variant LICA-FR 19 46292347 46292347 single base substitution G A upstream_gene_variant LICA-FR 19 46296390 46296390 single base substitution C T upstream_gene_variant LICA-FR 19 46299219 46299219 single base substitution C T upstream_gene_variant LINC-JP 19 46281504 46281504 single base substitution G T downstream_gene_variant LINC-JP 19 46288822 46288822 single base substitution T A downstream_gene_variant LINC-JP 19 46288822 46288822 single base substitution T A intron_variant LINC-JP 19 46288822 46288822 single base substitution T A synonymous_variant G115G 345A>T LINC-JP 19 46295455 46295455 single base substitution C T intron_variant LINC-JP 19 46295455 46295455 single base substitution C T upstream_gene_variant LINC-JP 19 46298366 46298366 single base substitution G C upstream_gene_variant LINC-JP 19 46299359 46299359 single base substitution A G upstream_gene_variant LIRI-JP 19 46290905 46290905 single base substitution G T downstream_gene_variant LIRI-JP 19 46290905 46290905 single base substitution G T intron_variant LIRI-JP 19 46290905 46290905 single base substitution G T upstream_gene_variant LIRI-JP 19 46296528 46296528 single base substitution T C upstream_gene_variant LIRI-JP 19 46298548 46298548 single base substitution T C upstream_gene_variant LIRI-JP 19 46300557 46300557 single base substitution G C upstream_gene_variant LUSC-KR 19 46281433 46281433 single base substitution G A downstream_gene_variant LUSC-KR 19 46282850 46282850 single base substitution A C downstream_gene_variant LUSC-KR 19 46285001 46285001 single base substitution C T downstream_gene_variant LUSC-KR 19 46287200 46287200 single base substitution C G 3_prime_UTR_variant LUSC-KR 19 46287200 46287200 single base substitution C G downstream_gene_variant LUSC-KR 19 46296062 46296062 single base substitution C A upstream_gene_variant LUSC-KR 19 46297773 46297773 single base substitution G A upstream_gene_variant LUSC-US 19 46289601 46289601 single base substitution C A downstream_gene_variant LUSC-US 19 46289601 46289601 single base substitution C A stop_gained E385* 1153G>T LUSC-US 19 46289601 46289601 single base substitution C A upstream_gene_variant LUSC-US 19 46289602 46289602 single base substitution C A downstream_gene_variant LUSC-US 19 46289602 46289602 single base substitution C A missense_variant E384D 1152G>T LUSC-US 19 46289602 46289602 single base substitution C A upstream_gene_variant MALY-DE 19 46281485 46281485 single base substitution G A downstream_gene_variant MALY-DE 19 46287866 46287866 single base substitution G A downstream_gene_variant MALY-DE 19 46287866 46287866 single base substitution G A intron_variant MALY-DE 19 46287866 46287866 single base substitution G A synonymous_variant T58T 174C>T MALY-DE 19 46289654 46289654 single base substitution T C downstream_gene_variant MALY-DE 19 46289654 46289654 single base substitution T C missense_variant H367R 1100A>G MALY-DE 19 46289654 46289654 single base substitution T C upstream_gene_variant MALY-DE 19 46295393 46295393 single base substitution C T intron_variant MALY-DE 19 46295393 46295393 single base substitution C T upstream_gene_variant MALY-DE 19 46298639 46298639 single base substitution C T upstream_gene_variant MALY-DE 19 46300400 46300400 single base substitution C T upstream_gene_variant MELA-AU 19 46281338 46281338 single base substitution C T downstream_gene_variant MELA-AU 19 46281669 46281669 single base substitution G A downstream_gene_variant MELA-AU 19 46281679 46281679 single base substitution C T downstream_gene_variant MELA-AU 19 46281930 46281930 single base substitution A G downstream_gene_variant MELA-AU 19 46282283 46282283 single base substitution G A downstream_gene_variant MELA-AU 19 46282479 46282479 single base substitution G A downstream_gene_variant MELA-AU 19 46283449 46283449 single base substitution G A downstream_gene_variant MELA-AU 19 46283875 46283875 single base substitution G A downstream_gene_variant MELA-AU 19 46283998 46283999 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 46284169 46284169 single base substitution G A downstream_gene_variant MELA-AU 19 46284183 46284183 single base substitution G A downstream_gene_variant MELA-AU 19 46284253 46284253 single base substitution G A downstream_gene_variant MELA-AU 19 46284631 46284643 deletion of <=200bp GCCCTGGCCCCAG - downstream_gene_variant MELA-AU 19 46284863 46284863 single base substitution G A downstream_gene_variant MELA-AU 19 46285216 46285216 single base substitution C T downstream_gene_variant MELA-AU 19 46285269 46285269 single base substitution G A downstream_gene_variant MELA-AU 19 46286529 46286529 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46286529 46286529 single base substitution G A downstream_gene_variant MELA-AU 19 46286531 46286531 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46286531 46286531 single base substitution G A downstream_gene_variant MELA-AU 19 46286971 46286971 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46286971 46286971 single base substitution G A downstream_gene_variant MELA-AU 19 46287113 46287113 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46287113 46287113 single base substitution G A downstream_gene_variant MELA-AU 19 46287175 46287175 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46287175 46287175 single base substitution G A downstream_gene_variant MELA-AU 19 46287238 46287238 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46287238 46287238 single base substitution G A downstream_gene_variant MELA-AU 19 46287289 46287289 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46287289 46287289 single base substitution G A downstream_gene_variant MELA-AU 19 46287381 46287381 single base substitution A G 3_prime_UTR_variant MELA-AU 19 46287381 46287381 single base substitution A G downstream_gene_variant MELA-AU 19 46287442 46287442 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46287442 46287442 single base substitution G A downstream_gene_variant MELA-AU 19 46287956 46287957 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 19 46287956 46287957 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 19 46287956 46287957 multiple base substitution (>=2bp and <=200bp) GG AT missense_variant T28N 83CC>AT MELA-AU 19 46287956 46287957 multiple base substitution (>=2bp and <=200bp) GG AT missense_variant T640N 1919CC>AT MELA-AU 19 46288071 46288071 single base substitution G A downstream_gene_variant MELA-AU 19 46288071 46288071 single base substitution G A intron_variant MELA-AU 19 46288746 46288746 single base substitution G A downstream_gene_variant MELA-AU 19 46288746 46288746 single base substitution G A intron_variant MELA-AU 19 46288746 46288746 single base substitution G A missense_variant R141C 421C>T MELA-AU 19 46289327 46289327 single base substitution G A downstream_gene_variant MELA-AU 19 46289327 46289327 single base substitution G A missense_variant S476L 1427C>T MELA-AU 19 46289327 46289327 single base substitution G A upstream_gene_variant MELA-AU 19 46289802 46289802 single base substitution G A downstream_gene_variant MELA-AU 19 46289802 46289802 single base substitution G A synonymous_variant L318L 952C>T MELA-AU 19 46289802 46289802 single base substitution G A upstream_gene_variant MELA-AU 19 46290325 46290325 single base substitution G A downstream_gene_variant MELA-AU 19 46290325 46290325 single base substitution G A exon_variant MELA-AU 19 46290325 46290325 single base substitution G A intron_variant MELA-AU 19 46290325 46290325 single base substitution G A upstream_gene_variant MELA-AU 19 46290453 46290453 single base substitution C T downstream_gene_variant MELA-AU 19 46290453 46290453 single base substitution C T exon_variant MELA-AU 19 46290453 46290453 single base substitution C T intron_variant MELA-AU 19 46290453 46290453 single base substitution C T upstream_gene_variant MELA-AU 19 46290484 46290484 single base substitution G A downstream_gene_variant MELA-AU 19 46290484 46290484 single base substitution G A intron_variant MELA-AU 19 46290484 46290484 single base substitution G A upstream_gene_variant MELA-AU 19 46290825 46290825 single base substitution G A downstream_gene_variant MELA-AU 19 46290825 46290825 single base substitution G A intron_variant MELA-AU 19 46290825 46290825 single base substitution G A upstream_gene_variant MELA-AU 19 46292094 46292094 single base substitution G A downstream_gene_variant MELA-AU 19 46292094 46292094 single base substitution G A intron_variant MELA-AU 19 46292094 46292094 single base substitution G A upstream_gene_variant MELA-AU 19 46292319 46292319 single base substitution G A downstream_gene_variant MELA-AU 19 46292319 46292319 single base substitution G A intron_variant MELA-AU 19 46292319 46292319 single base substitution G A upstream_gene_variant MELA-AU 19 46292697 46292697 single base substitution G A downstream_gene_variant MELA-AU 19 46292697 46292697 single base substitution G A exon_variant MELA-AU 19 46292697 46292697 single base substitution G A intron_variant MELA-AU 19 46292697 46292697 single base substitution G A missense_variant L64F 190C>T MELA-AU 19 46292697 46292697 single base substitution G A upstream_gene_variant MELA-AU 19 46293472 46293472 single base substitution G A downstream_gene_variant MELA-AU 19 46293472 46293472 single base substitution G A intron_variant MELA-AU 19 46293472 46293472 single base substitution G A upstream_gene_variant MELA-AU 19 46293623 46293623 single base substitution A T downstream_gene_variant MELA-AU 19 46293623 46293623 single base substitution A T intron_variant MELA-AU 19 46293623 46293623 single base substitution A T upstream_gene_variant MELA-AU 19 46293793 46293793 single base substitution C T downstream_gene_variant MELA-AU 19 46293793 46293793 single base substitution C T intron_variant MELA-AU 19 46293793 46293793 single base substitution C T upstream_gene_variant MELA-AU 19 46293925 46293936 deletion of <=200bp AAAGAAAGAAAG - 3_prime_UTR_variant MELA-AU 19 46293925 46293936 deletion of <=200bp AAAGAAAGAAAG - intron_variant MELA-AU 19 46293925 46293936 deletion of <=200bp AAAGAAAGAAAG - upstream_gene_variant MELA-AU 19 46294277 46294277 single base substitution G A exon_variant MELA-AU 19 46294277 46294277 single base substitution G A synonymous_variant F170F 510C>T MELA-AU 19 46294277 46294277 single base substitution G A synonymous_variant F63F 189C>T MELA-AU 19 46294277 46294277 single base substitution G A synonymous_variant F9F 27C>T MELA-AU 19 46294277 46294277 single base substitution G A upstream_gene_variant MELA-AU 19 46294367 46294367 single base substitution A G intron_variant MELA-AU 19 46294367 46294367 single base substitution A G upstream_gene_variant MELA-AU 19 46294553 46294553 single base substitution G A intron_variant MELA-AU 19 46294553 46294553 single base substitution G A upstream_gene_variant MELA-AU 19 46294775 46294775 single base substitution G A intron_variant MELA-AU 19 46294775 46294775 single base substitution G A upstream_gene_variant MELA-AU 19 46294815 46294815 single base substitution A G intron_variant MELA-AU 19 46294815 46294815 single base substitution A G upstream_gene_variant MELA-AU 19 46296076 46296076 single base substitution G A upstream_gene_variant MELA-AU 19 46296118 46296118 single base substitution G A upstream_gene_variant MELA-AU 19 46296131 46296131 single base substitution C T upstream_gene_variant MELA-AU 19 46296180 46296180 single base substitution G A upstream_gene_variant MELA-AU 19 46296192 46296193 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 46296210 46296210 single base substitution G A upstream_gene_variant MELA-AU 19 46296259 46296260 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 46296277 46296277 single base substitution G A upstream_gene_variant MELA-AU 19 46296575 46296575 single base substitution C T upstream_gene_variant MELA-AU 19 46296687 46296687 single base substitution C T upstream_gene_variant MELA-AU 19 46297337 46297337 single base substitution C T upstream_gene_variant MELA-AU 19 46297802 46297802 single base substitution C T upstream_gene_variant MELA-AU 19 46298048 46298048 single base substitution C T upstream_gene_variant MELA-AU 19 46298062 46298062 single base substitution G A upstream_gene_variant MELA-AU 19 46298260 46298260 single base substitution C T upstream_gene_variant MELA-AU 19 46299047 46299047 single base substitution G A upstream_gene_variant MELA-AU 19 46299102 46299103 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 46299321 46299321 single base substitution G A upstream_gene_variant MELA-AU 19 46299333 46299333 single base substitution G A upstream_gene_variant MELA-AU 19 46299342 46299342 single base substitution C A upstream_gene_variant MELA-AU 19 46299481 46299481 single base substitution G A upstream_gene_variant MELA-AU 19 46299648 46299648 single base substitution G A upstream_gene_variant MELA-AU 19 46299906 46299906 single base substitution G A upstream_gene_variant MELA-AU 19 46300151 46300151 single base substitution C T upstream_gene_variant MELA-AU 19 46300186 46300186 single base substitution T C upstream_gene_variant MELA-AU 19 46300213 46300213 single base substitution G C upstream_gene_variant MELA-AU 19 46300394 46300394 single base substitution G A upstream_gene_variant MELA-AU 19 46300490 46300490 single base substitution C T upstream_gene_variant MELA-AU 19 46300587 46300587 single base substitution C T upstream_gene_variant MELA-AU 19 46300617 46300617 single base substitution T C upstream_gene_variant MELA-AU 19 46300664 46300664 single base substitution C T upstream_gene_variant ORCA-IN 19 46300306 46300306 single base substitution G T upstream_gene_variant OV-AU 19 46285974 46285974 single base substitution A G downstream_gene_variant OV-AU 19 46293660 46293660 single base substitution C T downstream_gene_variant OV-AU 19 46293660 46293660 single base substitution C T intron_variant OV-AU 19 46293660 46293660 single base substitution C T upstream_gene_variant OV-AU 19 46297458 46297458 single base substitution G A upstream_gene_variant OV-AU 19 46299306 46299306 single base substitution G T upstream_gene_variant PACA-AU 19 46281262 46281262 single base substitution G T downstream_gene_variant PACA-AU 19 46284734 46284734 single base substitution G A downstream_gene_variant PACA-AU 19 46291839 46291839 single base substitution G T downstream_gene_variant PACA-AU 19 46291839 46291839 single base substitution G T intron_variant PACA-AU 19 46291839 46291839 single base substitution G T upstream_gene_variant PACA-AU 19 46296368 46296368 single base substitution T C upstream_gene_variant PACA-AU 19 46296897 46296897 single base substitution G A upstream_gene_variant PACA-AU 19 46300768 46300768 deletion of <=200bp T - upstream_gene_variant PACA-CA 19 46282204 46282204 single base substitution G C downstream_gene_variant PACA-CA 19 46288427 46288427 single base substitution C A downstream_gene_variant PACA-CA 19 46288427 46288427 single base substitution C A intron_variant PACA-CA 19 46290223 46290223 single base substitution T C downstream_gene_variant PACA-CA 19 46290223 46290223 single base substitution T C exon_variant PACA-CA 19 46290223 46290223 single base substitution T C intron_variant PACA-CA 19 46290223 46290223 single base substitution T C upstream_gene_variant PACA-CA 19 46291101 46291101 single base substitution G A downstream_gene_variant PACA-CA 19 46291101 46291101 single base substitution G A intron_variant PACA-CA 19 46291101 46291101 single base substitution G A upstream_gene_variant PACA-CA 19 46292367 46292367 single base substitution A G downstream_gene_variant PACA-CA 19 46292367 46292367 single base substitution A G intron_variant PACA-CA 19 46292367 46292367 single base substitution A G upstream_gene_variant PACA-CA 19 46298186 46298186 single base substitution A C upstream_gene_variant PACA-CA 19 46300454 46300454 single base substitution G A upstream_gene_variant PACA-CA 19 46300738 46300738 single base substitution A C upstream_gene_variant PAEN-AU 19 46296369 46296369 single base substitution C T upstream_gene_variant PBCA-DE 19 46282080 46282080 single base substitution G A downstream_gene_variant PRAD-CA 19 46289280 46289280 single base substitution G A downstream_gene_variant PRAD-CA 19 46289280 46289280 single base substitution G A missense_variant R492C 1474C>T PRAD-CA 19 46289280 46289280 single base substitution G A upstream_gene_variant PRAD-UK 19 46286199 46286199 single base substitution G A downstream_gene_variant PRAD-UK 19 46286308 46286308 single base substitution G T 3_prime_UTR_variant PRAD-UK 19 46286308 46286308 single base substitution G T downstream_gene_variant PRAD-UK 19 46298314 46298314 single base substitution G C upstream_gene_variant PRAD-UK 19 46299139 46299139 insertion of <=200bp - CTCCTCGCCCTCCTCCTC upstream_gene_variant PRAD-UK 19 46300405 46300405 single base substitution C T upstream_gene_variant PRAD-US 19 46289388 46289388 deletion of <=200bp G - downstream_gene_variant PRAD-US 19 46289388 46289388 deletion of <=200bp G - frameshift_variant L456 PRAD-US 19 46289388 46289388 deletion of <=200bp G - upstream_gene_variant PRAD-US 19 46299171 46299171 single base substitution C A upstream_gene_variant READ-US 19 46289392 46289392 single base substitution G C downstream_gene_variant READ-US 19 46289392 46289392 single base substitution G C synonymous_variant P454P 1362C>G READ-US 19 46289392 46289392 single base substitution G C upstream_gene_variant RECA-EU 19 46287957 46287957 single base substitution G A downstream_gene_variant RECA-EU 19 46287957 46287957 single base substitution G A intron_variant RECA-EU 19 46287957 46287957 single base substitution G A missense_variant T28I 83C>T RECA-EU 19 46287957 46287957 single base substitution G A missense_variant T640I 1919C>T RECA-EU 19 46288786 46288786 single base substitution C G downstream_gene_variant RECA-EU 19 46288786 46288786 single base substitution C G intron_variant RECA-EU 19 46288786 46288786 single base substitution C G missense_variant L127F 381G>C RECA-EU 19 46296367 46296367 single base substitution T C upstream_gene_variant SKCA-BR 19 46282828 46282828 single base substitution G A downstream_gene_variant SKCA-BR 19 46283244 46283244 single base substitution G A downstream_gene_variant SKCA-BR 19 46283845 46283845 single base substitution G A downstream_gene_variant SKCA-BR 19 46284520 46284520 single base substitution G A downstream_gene_variant SKCA-BR 19 46285409 46285409 single base substitution A C downstream_gene_variant SKCA-BR 19 46286276 46286276 single base substitution T G 3_prime_UTR_variant SKCA-BR 19 46286276 46286276 single base substitution T G downstream_gene_variant SKCA-BR 19 46286287 46286287 single base substitution T G 3_prime_UTR_variant SKCA-BR 19 46286287 46286287 single base substitution T G downstream_gene_variant SKCA-BR 19 46289455 46289455 single base substitution C G downstream_gene_variant SKCA-BR 19 46289455 46289455 single base substitution C G synonymous_variant S433S 1299G>C SKCA-BR 19 46289455 46289455 single base substitution C G upstream_gene_variant SKCA-BR 19 46291398 46291398 single base substitution A C downstream_gene_variant SKCA-BR 19 46291398 46291398 single base substitution A C intron_variant SKCA-BR 19 46291398 46291398 single base substitution A C upstream_gene_variant SKCA-BR 19 46292023 46292024 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 19 46292023 46292024 deletion of <=200bp CA - intron_variant SKCA-BR 19 46292023 46292024 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 19 46294557 46294557 single base substitution C T intron_variant SKCA-BR 19 46294557 46294557 single base substitution C T upstream_gene_variant SKCA-BR 19 46294882 46294882 single base substitution G A intron_variant SKCA-BR 19 46294882 46294882 single base substitution G A upstream_gene_variant SKCA-BR 19 46294883 46294883 single base substitution G C intron_variant SKCA-BR 19 46294883 46294883 single base substitution G C upstream_gene_variant SKCA-BR 19 46295688 46295688 single base substitution G C exon_variant SKCA-BR 19 46295688 46295688 single base substitution G C synonymous_variant A109A 327C>G SKCA-BR 19 46295688 46295688 single base substitution G C synonymous_variant A2A 6C>G SKCA-BR 19 46295688 46295688 single base substitution G C upstream_gene_variant SKCA-BR 19 46296233 46296233 single base substitution C T upstream_gene_variant SKCA-BR 19 46298759 46298759 single base substitution G A upstream_gene_variant SKCA-BR 19 46298980 46298980 single base substitution G A upstream_gene_variant SKCM-US 19 46281829 46281829 single base substitution G A downstream_gene_variant SKCM-US 19 46282606 46282606 single base substitution G A downstream_gene_variant SKCM-US 19 46282618 46282618 single base substitution C T downstream_gene_variant SKCM-US 19 46283579 46283579 single base substitution A G downstream_gene_variant SKCM-US 19 46288921 46288921 single base substitution G A downstream_gene_variant SKCM-US 19 46288921 46288921 single base substitution G A synonymous_variant F611F 1833C>T SKCM-US 19 46288921 46288921 single base substitution G A synonymous_variant F82F 246C>T SKCM-US 19 46288921 46288921 single base substitution G A upstream_gene_variant SKCM-US 19 46289185 46289185 single base substitution G A downstream_gene_variant SKCM-US 19 46289185 46289185 single base substitution G A synonymous_variant F523F 1569C>T SKCM-US 19 46289185 46289185 single base substitution G A upstream_gene_variant SKCM-US 19 46289281 46289281 single base substitution G A downstream_gene_variant SKCM-US 19 46289281 46289281 single base substitution G A synonymous_variant S491S 1473C>T SKCM-US 19 46289281 46289281 single base substitution G A upstream_gene_variant SKCM-US 19 46289452 46289452 single base substitution C T downstream_gene_variant SKCM-US 19 46289452 46289452 single base substitution C T synonymous_variant A434A 1302G>A SKCM-US 19 46289452 46289452 single base substitution C T upstream_gene_variant SKCM-US 19 46289540 46289540 single base substitution G A downstream_gene_variant SKCM-US 19 46289540 46289540 single base substitution G A missense_variant P405L 1214C>T SKCM-US 19 46289540 46289540 single base substitution G A upstream_gene_variant SKCM-US 19 46289622 46289622 single base substitution G A downstream_gene_variant SKCM-US 19 46289622 46289622 single base substitution G A missense_variant P378S 1132C>T SKCM-US 19 46289622 46289622 single base substitution G A upstream_gene_variant SKCM-US 19 46289693 46289693 single base substitution G A downstream_gene_variant SKCM-US 19 46289693 46289693 single base substitution G A missense_variant S354F 1061C>T SKCM-US 19 46289693 46289693 single base substitution G A upstream_gene_variant SKCM-US 19 46289702 46289702 single base substitution G A downstream_gene_variant SKCM-US 19 46289702 46289702 single base substitution G A missense_variant T351I 1052C>T SKCM-US 19 46289702 46289702 single base substitution G A upstream_gene_variant SKCM-US 19 46289715 46289715 single base substitution C T downstream_gene_variant SKCM-US 19 46289715 46289715 single base substitution C T missense_variant D347N 1039G>A SKCM-US 19 46289715 46289715 single base substitution C T upstream_gene_variant SKCM-US 19 46289820 46289820 single base substitution G A downstream_gene_variant SKCM-US 19 46289820 46289820 single base substitution G A missense_variant H312Y 934C>T SKCM-US 19 46289820 46289820 single base substitution G A upstream_gene_variant SKCM-US 19 46289876 46289876 single base substitution G A downstream_gene_variant SKCM-US 19 46289876 46289876 single base substitution G A missense_variant S293L 878C>T SKCM-US 19 46289876 46289876 single base substitution G A upstream_gene_variant SKCM-US 19 46289884 46289884 single base substitution G A downstream_gene_variant SKCM-US 19 46289884 46289884 single base substitution G A synonymous_variant F290F 870C>T SKCM-US 19 46289884 46289884 single base substitution G A upstream_gene_variant SKCM-US 19 46289988 46289988 single base substitution G A downstream_gene_variant SKCM-US 19 46289988 46289988 single base substitution G A synonymous_variant L256L 766C>T SKCM-US 19 46289988 46289988 single base substitution G A upstream_gene_variant SKCM-US 19 46299147 46299149 deletion of <=200bp CCT - upstream_gene_variant SKCM-US 19 46299162 46299162 single base substitution C T upstream_gene_variant SKCM-US 19 46299165 46299167 deletion of <=200bp CCT - upstream_gene_variant SKCM-US 19 46299343 46299343 single base substitution G A upstream_gene_variant STAD-US 19 46282701 46282701 deletion of <=200bp C - downstream_gene_variant STAD-US 19 46282726 46282726 single base substitution T G downstream_gene_variant STAD-US 19 46288989 46288989 single base substitution C T downstream_gene_variant STAD-US 19 46288989 46288989 single base substitution C T missense_variant E589K 1765G>A STAD-US 19 46288989 46288989 single base substitution C T missense_variant E60K 178G>A STAD-US 19 46288989 46288989 single base substitution C T upstream_gene_variant STAD-US 19 46288999 46288999 single base substitution C T downstream_gene_variant STAD-US 19 46288999 46288999 single base substitution C T synonymous_variant P56P 168G>A STAD-US 19 46288999 46288999 single base substitution C T synonymous_variant P585P 1755G>A STAD-US 19 46288999 46288999 single base substitution C T upstream_gene_variant STAD-US 19 46289095 46289095 single base substitution G A downstream_gene_variant STAD-US 19 46289095 46289095 single base substitution G A synonymous_variant G24G 72C>T STAD-US 19 46289095 46289095 single base substitution G A synonymous_variant G553G 1659C>T STAD-US 19 46289095 46289095 single base substitution G A upstream_gene_variant STAD-US 19 46289222 46289222 single base substitution G A downstream_gene_variant STAD-US 19 46289222 46289222 single base substitution G A missense_variant A511V 1532C>T STAD-US 19 46289222 46289222 single base substitution G A upstream_gene_variant STAD-US 19 46289337 46289337 single base substitution C T downstream_gene_variant STAD-US 19 46289337 46289337 single base substitution C T missense_variant A473T 1417G>A STAD-US 19 46289337 46289337 single base substitution C T upstream_gene_variant STAD-US 19 46289676 46289676 single base substitution C T downstream_gene_variant STAD-US 19 46289676 46289676 single base substitution C T missense_variant V360M 1078G>A STAD-US 19 46289676 46289676 single base substitution C T upstream_gene_variant STAD-US 19 46290090 46290090 single base substitution G A downstream_gene_variant STAD-US 19 46290090 46290090 single base substitution G A synonymous_variant L222L 664C>T STAD-US 19 46290090 46290090 single base substitution G A upstream_gene_variant STAD-US 19 46299296 46299296 single base substitution G T upstream_gene_variant THCA-SA 19 46289503 46289503 single base substitution C T downstream_gene_variant THCA-SA 19 46289503 46289503 single base substitution C T synonymous_variant P417P 1251G>A THCA-SA 19 46289503 46289503 single base substitution C T upstream_gene_variant UCEC-US 19 46281423 46281423 single base substitution C T downstream_gene_variant UCEC-US 19 46283068 46283068 single base substitution G T downstream_gene_variant UCEC-US 19 46283216 46283216 single base substitution C A downstream_gene_variant UCEC-US 19 46289541 46289541 insertion of <=200bp - CTC downstream_gene_variant UCEC-US 19 46289541 46289541 insertion of <=200bp - CTC inframe_insertion P405RA UCEC-US 19 46289541 46289541 insertion of <=200bp - CTC upstream_gene_variant UCEC-US 19 46289692 46289692 single base substitution G T downstream_gene_variant UCEC-US 19 46289692 46289692 single base substitution G T synonymous_variant S354S 1062C>A UCEC-US 19 46289692 46289692 single base substitution G T upstream_gene_variant UCEC-US 19 46289884 46289884 single base substitution G A downstream_gene_variant UCEC-US 19 46289884 46289884 single base substitution G A synonymous_variant F290F 870C>T UCEC-US 19 46289884 46289884 single base substitution G A upstream_gene_variant UCEC-US 19 46289902 46289902 single base substitution C A downstream_gene_variant UCEC-US 19 46289902 46289902 single base substitution C A missense_variant E284D 852G>T UCEC-US 19 46289902 46289902 single base substitution C A upstream_gene_variant UCEC-US 19 46289926 46289926 single base substitution C T downstream_gene_variant UCEC-US 19 46289926 46289926 single base substitution C T synonymous_variant P276P 828G>A UCEC-US 19 46289926 46289926 single base substitution C T upstream_gene_variant UCEC-US 19 46294255 46294255 single base substitution C T exon_variant UCEC-US 19 46294255 46294255 single base substitution C T missense_variant E178K 532G>A UCEC-US 19 46294255 46294255 single base substitution C T missense_variant E17K 49G>A UCEC-US 19 46294255 46294255 single base substitution C T missense_variant E71K 211G>A UCEC-US 19 46294255 46294255 single base substitution C T upstream_gene_variant UCEC-US 19 46295581 46295581 single base substitution C T exon_variant UCEC-US 19 46295581 46295581 single base substitution C T missense_variant S145N 434G>A UCEC-US 19 46295581 46295581 single base substitution C T missense_variant S38N 113G>A UCEC-US 19 46295581 46295581 single base substitution C T upstream_gene_variant UCEC-US 19 46299175 46299175 single base substitution C T upstream_gene_variant UCEC-US 19 46299218 46299218 single base substitution G A upstream_gene_variant UCEC-US 19 46299297 46299297 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S00022 COSM5656478 c.1814G>A p.R605Q Substitution - Missense 19:45785682-45785682 - C91 COSM4444678 c.473G>A p.R158Q Substitution - Missense 19:45791056-45791056 - SCC-25 COSM4413936 c.1358A>C p.H453P Substitution - Missense 19:45786138-45786138 - C086 COSM5529856 c.861C>T p.L287L Substitution - coding silent 19:45786635-45786635 - HCC032T COSM5809241 c.1383C>T p.T461T Substitution - coding silent 19:45786113-45786113 - TCGA-AZ-4615-01 COSM439803 c.1362C>G p.P454P Substitution - coding silent 19:45786134-45786134 - TCGA-HJ-7597-01 COSM4079461 c.1532C>T p.A511V Substitution - Missense 19:45785964-45785964 - TCGA-ER-A193-06 COSM3535984 c.1039G>A p.D347N Substitution - Missense 19:45786457-45786457 - ORL-48 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - TCGA-EK-A2RJ-01 COSM4831714 c.933C>T p.F311F Substitution - coding silent 19:45786563-45786563 - TCGA-EE-A2MI-06 COSM3535982 c.1061C>T p.S354F Substitution - Missense 19:45786435-45786435 - TCGA-FP-A4BE-01 COSM4079459 c.1755G>A p.P585P Substitution - coding silent 19:45785741-45785741 - CSCC-11-T COSM4561482 c.886G>A p.G296S Substitution - Missense 19:45786610-45786610 - PTC-28C COSM1564351 c.1251G>A p.P417P Substitution - coding silent 19:45786245-45786245 - 448 COSM4435240 c.780C>G p.G260G Substitution - coding silent 19:45786716-45786716 - SCC-25 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - D28 COSM3104619 c.1833C>T p.F611F Substitution - coding silent 19:45785663-45785663 - TCGA-BQ-7053-01 COSM3990123 c.553G>T p.G185C Substitution - Missense 19:45790976-45790976 - CHC1594T COSM4805019 c.1006C>A p.P336T Substitution - Missense 19:45786490-45786490 - CSCC-7-T COSM4473089 c.1827C>T p.L609L Substitution - coding silent 19:45785669-45785669 - TCGA-AM-5821-01 COSM3756958 c.1245C>T p.G415G Substitution - coding silent 19:45786251-45786251 - HDC87 COSM4636994 c.1157C>T p.A386V Substitution - Missense 19:45786339-45786339 - TCGA-BR-6452-01 COSM4079464 c.664C>T p.L222L Substitution - coding silent 19:45786832-45786832 - 66 COSM5493962 c.1666G>A p.G556S Substitution - Missense 19:45785830-45785830 - ESCC_153 COSM5645678 c.135G>T p.S45S Substitution - coding silent 19:45792622-45792622 - sysucc-1397T COSM5474187 c.1726G>A p.A576T Substitution - Missense 19:45785770-45785770 - CSCC-35-T COSM4513841 c.952C>T p.L318L Substitution - coding silent 19:45786544-45786544 - TCGA-EK-A2RJ-01 COSM4832175 c.687C>G p.F229L Substitution - Missense 19:45786809-45786809 - NOKSI COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - T3091 COSM4611427 c.1366delC p.L456fs*203 Deletion - Frameshift 19:45786130-45786130 - T2769 COSM4632223 c.1714C>T p.R572C Substitution - Missense 19:45785782-45785782 - TCGA-GN-A265-06 COSM3535983 c.1052C>T p.T351I Substitution - Missense 19:45786444-45786444 - PT34 COSM5911006 c.1124C>T p.A375V Substitution - Missense 19:45786372-45786372 - BD57T COSM3104623 c.1757G>A p.R586H Substitution - Missense 19:45785739-45785739 - HCT-116 COSM1203879 c.1756C>T p.R586C Substitution - Missense 19:45785740-45785740 - UM-SCC-2 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - 587268 COSM1203878 c.298C>T p.R100C Substitution - Missense 19:45792459-45792459 - SJRB004 COSM4776112 c.1753C>T p.P585S Substitution - Missense 19:45785743-45785743 - CCK81 COSM3104620 c.1803C>T p.I601I Substitution - coding silent 19:45785693-45785693 - Pat_26_A COSM5856185 c.1606delG p.A536fs*123 Deletion - Frameshift 19:45785890-45785890 - TCGA-CD-A4MI-01 COSM4079463 c.1078G>A p.V360M Substitution - Missense 19:45786418-45786418 - TCGA-AM-5820-01 COSM1564351 c.1251G>A p.P417P Substitution - coding silent 19:45786245-45786245 - TCGA-GN-A266-06 COSM3535986 c.766C>T p.L256L Substitution - coding silent 19:45786730-45786730 - WSU-HN30 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - TCGA-CM-6162-01 COSM1394687 c.1786C>T p.L596F Substitution - Missense 19:45785710-45785710 - LOVO COSM4645355 c.51G>T p.G17G Substitution - coding silent 19:45792706-45792706 - HCC048T COSM5820618 c.1419C>T p.A473A Substitution - coding silent 19:45786077-45786077 - TCGA-C8-A133-01 COSM439804 c.466G>A p.D156N Substitution - Missense 19:45791063-45791063 - TCGA-BQ-5878-01 COSM3990122 c.1489C>T p.P497S Substitution - Missense 19:45786007-45786007 - CHC2115T COSM4793391 c.1427C>G p.S476W Substitution - Missense 19:45786069-45786069 - TCGA-GN-A266-06 COSM3104619 c.1833C>T p.F611F Substitution - coding silent 19:45785663-45785663 - TCGA-D1-A174-01 COSM998309 c.852G>T p.E284D Substitution - Missense 19:45786644-45786644 - T2999 COSM4678171 c.1219G>T p.A407S Substitution - Missense 19:45786277-45786277 - C008 COSM5522507 c.1163C>T p.T388I Substitution - Missense 19:45786333-45786333 - YUGURT COSM4473089 c.1827C>T p.L609L Substitution - coding silent 19:45785669-45785669 - TCGA-B5-A11E-01 COSM998306 c.1062C>A p.S354S Substitution - coding silent 19:45786434-45786434 - sysucc-311T COSM5464632 c.1042G>T p.D348Y Substitution - Missense 19:45786454-45786454 - ESCC_BICR_061T COSM5430795 c.1413G>A p.P471P Substitution - coding silent 19:45786083-45786083 - PTC-10C COSM1564351 c.1251G>A p.P417P Substitution - coding silent 19:45786245-45786245 - SC_9008 COSM5174865 c.753G>A p.P251P Substitution - coding silent 19:45786743-45786743 - PTC-1C COSM4132147 c.496A>C p.T166P Substitution - Missense 19:45791033-45791033 - BD190T COSM5517807 c.1198G>A p.E400K Substitution - Missense 19:45786298-45786298 - CHC1747T COSM4788036 c.1490C>T p.P497L Substitution - Missense 19:45786006-45786006 - UM-SCC-4 COSM4413936 c.1358A>C p.H453P Substitution - Missense 19:45786138-45786138 - TCGA-AA-3956-01 COSM297108 c.368_369insG p.D124fs*10 Insertion - Frameshift 19:45792388-45792389 - TCGA-AP-A0LM-01 COSM998311 c.532G>A p.E178K Substitution - Missense 19:45790997-45790997 - ESO-161 COSM1250283 c.878C>A p.S293* Substitution - Nonsense 19:45786618-45786618 - TCGA-AF-A56N-01 COSM5066466 c.864C>T p.N288N Substitution - coding silent 19:45786632-45786632 - UM-SCC-11B COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - TCGA-BR-6452-01 COSM4079460 c.1659C>T p.G553G Substitution - coding silent 19:45785837-45785837 - CCK81 COSM4611427 c.1366delC p.L456fs*203 Deletion - Frameshift 19:45786130-45786130 - PTC-53C COSM4132146 c.1160C>G p.A387G Substitution - Missense 19:45786336-45786336 - S00539 COSM5658777 c.1298C>T p.S433L Substitution - Missense 19:45786198-45786198 - CHC1594T COSM4805019 c.1006C>A p.P336T Substitution - Missense 19:45786490-45786490 - TCGA-AG-3592-01 COSM5066703 c.1378C>T p.R460C Substitution - Missense 19:45786118-45786118 - CHC1747T COSM4788036 c.1490C>T p.P497L Substitution - Missense 19:45786006-45786006 - SNU-175 COSM3104645 c.842C>T p.A281V Substitution - Missense 19:45786654-45786654 - TCGA-AG-A002-01 COSM260449 c.939C>T p.F313F Substitution - coding silent 19:45786557-45786557 - PD11765a COSM5786646 c.513C>A p.N171K Substitution - Missense 19:45791016-45791016 - UM-SCC-11B COSM4413936 c.1358A>C p.H453P Substitution - Missense 19:45786138-45786138 - 587316 COSM1203879 c.1756C>T p.R586C Substitution - Missense 19:45785740-45785740 - TCGA-BK-A0C9-01 COSM998307 c.1010A>G p.D337G Substitution - Missense 19:45786486-45786486 - LUAD-RT-S01703 COSM379645 c.1222G>A p.A408T Substitution - Missense 19:45786274-45786274 - PTC-54C COSM439803 c.1362C>G p.P454P Substitution - coding silent 19:45786134-45786134 - PD9585a COSM5779579 c.1296C>T p.G432G Substitution - coding silent 19:45786200-45786200 - CPCG0248-F1 COSM4966781 c.1474C>T p.R492C Substitution - Missense 19:45786022-45786022 - CHC2115T COSM4793391 c.1427C>G p.S476W Substitution - Missense 19:45786069-45786069 - TCGA-FD-A3N5-01 COSM1304788 c.636C>A p.D212E Substitution - Missense 19:45786860-45786860 - RMS10_ COSM4985748 c.1216G>A p.E406K Substitution - Missense 19:45786280-45786280 - HF-23896 COSM1197647 c.479A>G p.Y160C Substitution - Missense 19:45791050-45791050 - MD-288 COSM302067 c.1378delC p.R460fs*199 Deletion - Frameshift 19:45786118-45786118 - BHY COSM4413936 c.1358A>C p.H453P Substitution - Missense 19:45786138-45786138 - TCGA-RP-A695-06 COSM4896872 c.1132C>T p.P378S Substitution - Missense 19:45786364-45786364 - TCGA-Q1-A73O-01 COSM4834373 c.1002G>C p.W334C Substitution - Missense 19:45786494-45786494 - SCC-9 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - CSCC-55-T COSM4530679 c.1719G>A p.L573L Substitution - coding silent 19:45785777-45785777 - TCGA-EE-A3AG-06 COSM3535979 c.1473C>T p.S491S Substitution - coding silent 19:45786023-45786023 - 1946219 COSM1197647 c.479A>G p.Y160C Substitution - Missense 19:45791050-45791050 - TCGA-EE-A2GI-06 COSM3535980 c.1302G>A p.A434A Substitution - coding silent 19:45786194-45786194 - T1743 COSM4678172 c.1075C>T p.R359C Substitution - Missense 19:45786421-45786421 - TCGA-F1-6177-01 COSM4079462 c.1417G>A p.A473T Substitution - Missense 19:45786079-45786079 - C0015T COSM4154259 c.1919C>T p.T640I Substitution - Missense 19:45784699-45784699 - TCGA-60-2711-01 COSM712309 c.1152G>T p.E384D Substitution - Missense 19:45786344-45786344 - LOVO COSM4611427 c.1366delC p.L456fs*203 Deletion - Frameshift 19:45786130-45786130 - TCGA-B0-5098-01 COSM1494380 c.675G>A p.S225S Substitution - coding silent 19:45786821-45786821 - 587316 COSM1203880 c.1060T>C p.S354P Substitution - Missense 19:45786436-45786436 - TCGA-AX-A060-01 COSM998305 c.1212_1213insGAG p.E404_P405insE Insertion - In frame 19:45786283-45786284 - TCGA-CM-6674-01 COSM1394689 c.827C>A p.P276Q Substitution - Missense 19:45786669-45786669 - BD72T COSM5513546 c.1365_1366insC p.L456fs*>220 Insertion - Frameshift 19:45786130-45786131 - HCT116 COSM1203879 c.1756C>T p.R586C Substitution - Missense 19:45785740-45785740 - Gp2D COSM3104651 c.542C>T p.S181L Substitution - Missense 19:45790987-45790987 - TCGA-GN-A26C-01 COSM998308 c.870C>T p.F290F Substitution - coding silent 19:45786626-45786626 - Gp5D COSM3104651 c.542C>T p.S181L Substitution - Missense 19:45790987-45790987 - LP6005334-DNA_A04 COSM4412352 c.460C>T p.P154S Substitution - Missense 19:45791069-45791069 - TCGA-60-2711-01 COSM712311 c.1153G>T p.E385* Substitution - Nonsense 19:45786343-45786343 - TCGA-EB-A5UM-01 COSM3535981 c.1214C>T p.P405L Substitution - Missense 19:45786282-45786282 - A6 COSM5350523 c.2012G>T p.G671V Substitution - Missense 19:45784256-45784256 - BICR_22 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - TCGA-AZ-6601-01 COSM1394688 c.1054G>A p.V352M Substitution - Missense 19:45786442-45786442 - NOKSI COSM4413936 c.1358A>C p.H453P Substitution - Missense 19:45786138-45786138 - S02344 COSM5693503 c.1507G>T p.G503C Substitution - Missense 19:45785989-45785989 - SNU-175 COSM4650505 c.1519G>T p.G507C Substitution - Missense 19:45785977-45785977 - ESO-601 COSM1250284 c.425G>A p.R142H Substitution - Missense 19:45792332-45792332 - TCGA-DK-A3WW-01 COSM3797269 c.558C>G p.F186L Substitution - Missense 19:45790971-45790971 - TCGA-EE-A2GR-06 COSM1525650 c.934C>T p.H312Y Substitution - Missense 19:45786562-45786562 - BD72T COSM5513545 c.1902+9C>T p.? Unknown 19:45785585-45785585 - TCGA-BT-A2LA-01 COSM1304787 c.747G>A p.S249S Substitution - coding silent 19:45786749-45786749 - CSCC-29-T COSM4462630 c.1254C>T p.L418L Substitution - coding silent 19:45786242-45786242 - HCT116 COSM4632223 c.1714C>T p.R572C Substitution - Missense 19:45785782-45785782 - TCGA-BG-A18B-01 COSM998310 c.828G>A p.P276P Substitution - coding silent 19:45786668-45786668 - TCGA-BM-6198-01 COSM439803 c.1362C>G p.P454P Substitution - coding silent 19:45786134-45786134 - TCGA-CG-5723-01 COSM4079458 c.1765G>A p.E589K Substitution - Missense 19:45785731-45785731 - TCGA-AG-A02N-01 COSM5074359 c.998_999insTG p.W334fs*10 Insertion - Frameshift 19:45786497-45786498 - TCGA-D1-A103-01 COSM998312 c.434G>A p.S145N Substitution - Missense 19:45792323-45792323 - ESO-536 COSM1250282 c.1366_1367insC p.L456fs*>220 Insertion - Frameshift 19:45786129-45786130 - TCGA-B1-A656-01 COSM4413936 c.1358A>C p.H453P Substitution - Missense 19:45786138-45786138 - BHY COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - 2_PRE-TREATMENT COSM1721817 c.1277C>T p.S426F Substitution - Missense 19:45786219-45786219 - 587332 COSM1203881 c.813G>T p.K271N Substitution - Missense 19:45786683-45786683 - 7 COSM5732446 c.827C>T p.P276L Substitution - Missense 19:45786669-45786669 - WSU-HN8 COSM4592121 c.1352A>C p.Y451S Substitution - Missense 19:45786144-45786144 - BD124T COSM5493962 c.1666G>A p.G556S Substitution - Missense 19:45785830-45785830 - HN_62814 COSM122601 c.1171G>A p.G391S Substitution - Missense 19:45786325-45786325 - SNU-C4 COSM4653167 c.523G>A p.A175T Substitution - Missense 19:45791006-45791006 - WA43-44 COSM237297 c.1488C>T p.L496L Substitution - coding silent 19:45786008-45786008 - Pat_63_B COSM5856186 c.536C>T p.T179I Substitution - Missense 19:45790993-45790993 - H358 COSM1194123 c.475A>G p.I159V Substitution - Missense 19:45791054-45791054 - TCGA-EE-A2MR-06 COSM3535985 c.878C>T p.S293L Substitution - Missense 19:45786618-45786618 - TCGA-D9-A6EA-06 COSM4397872 c.1569C>T p.F523F Substitution - coding silent 19:45785927-45785927 - TCGA-BS-A0UF-01 COSM998308 c.870C>T p.F290F Substitution - coding silent 19:45786626-45786626 - T2197 COSM4678170 c.1804G>A p.A602T Substitution - Missense 19:45785692-45785692 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515474 19q13.3 609857

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.E284D c.852G>T 19 46289902 UCEC C A Missense p.E384D c.1152G>T 19 46289602 LUSC C A Nonsense p.E385* c.1153G>T 19 46289601 LUSC - C Frameshift p.D124Rfs*10 c.368dupG 19 46295647 COREAD C G Missense p.E384Q c.1150G>C 19 46289604 LUAD C G Missense p.R363P c.1088G>C 19 46289666 LUAD - CTC InFrameInsertion p.E404_P405insR c.1212_1213insAGG 19 46289542 UCEC C T Missense p.A473T c.1417G>A 19 46289337 STAD C T Missense p.D156N c.466G>A 19 46294321 BRCA C T Missense p.D347N c.1039G>A 19 46289715 CM C T Missense p.D637N c.1909G>A 19 46287967 LUAD C T Missense p.E646K c.1936G>A 19 46287940 LUAD C T Missense p.G391S c.1171G>A 19 46289583 HNSC C T Missense p.R142H c.425G>A 19 46295590 ESCA C T Synonymous p.A281A c.843G>A 19 46289911 HNSC C T Synonymous p.A434A c.1302G>A 19 46289452 CM C T Synonymous p.P276P c.828G>A 19 46289926 UCEC C T Synonymous p.S249S c.747G>A 19 46290007 BLCA G A Missense p.H312Y c.934C>T 19 46289820 CM G A Missense p.P276L c.827C>T 19 46289927 CM G A Missense p.S354F c.1061C>T 19 46289693 CM G A Missense p.T351I c.1052C>T 19 46289702 CM G A Synonymous p.D574D c.1722C>T 19 46289032 CM G A Synonymous p.F290F c.870C>T 19 46289884 CM G A Synonymous p.G521G c.1563C>T 19 46289191 CM G A Synonymous p.S255S c.765C>T 19 46289989 CM G A Synonymous p.S491S c.1473C>T 19 46289281 CM - G Frameshift p.L456Pfs*294 c.1366dupC 19 46289388 ESCA G T Missense p.D212E c.636C>A 19 46290118 BLCA G T Nonsense p.S293* c.878C>A 19 46289876 ESCA