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 11 5624521 5624521 + 5'UTR SNP A A C TCGA-OR-A5J7-01A-11D-A29I-10 TCGA-OR-A5J7-10A-01D-A29L-10 g.chr11:5624521A>C BLCA 11 5624476 5624476 + 5'UTR SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr11:5624476G>A BLCA 11 5624860 5624860 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr11:5624860C>G c.318C>G c.(316-318)ctC>ctG p.L106L BLCA 11 5625815 5625815 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr11:5625815G>A c.475G>A c.(475-477)Gag>Aag p.E159K BLCA 11 5626756 5626756 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr11:5626756C>T c.709C>T c.(709-711)Ctg>Ttg p.L237L BRCA 11 5624497 5624497 + 5'UTR SNP C C G TCGA-AO-A0J3-01A-11W-A050-09 TCGA-AO-A0J3-10A-01W-A055-09 g.chr11:5624497C>G BRCA 11 5624607 5624607 + Missense_Mutation SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chr11:5624607T>A c.65T>A c.(64-66)cTa>cAa p.L22Q BRCA 11 5624731 5624731 + Nonsense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr11:5624731C>G c.189C>G c.(187-189)taC>taG p.Y63* BRCA 11 5626721 5626721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr11:5626721A>C c.674A>C c.(673-675)cAc>cCc p.H225P BRCA 11 5631431 5631431 + Missense_Mutation SNP T T A TCGA-AR-A254-01A-21D-A167-09 TCGA-AR-A254-10A-01D-A167-09 g.chr11:5631431T>A c.830T>A c.(829-831)aTg>aAg p.M277K BRCA 11 5632299 5632299 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:5632299G>C c.1194G>C c.(1192-1194)caG>caC p.Q398H BRCA 11 5632304 5632304 + Missense_Mutation SNP G G A TCGA-BH-A0BP-01A-11D-A10Y-09 TCGA-BH-A0BP-10A-01D-A110-09 g.chr11:5632304G>A c.1199G>A c.(1198-1200)gGa>gAa p.G400E BRCA 11 5632399 5632399 + Missense_Mutation SNP C C T TCGA-AO-A12F-01A-11D-A10Y-09 TCGA-AO-A12F-10A-01D-A110-09 g.chr11:5632399C>T c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C CESC 11 5624476 5624476 + 5'UTR SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr11:5624476G>A COAD 11 5626618 5626618 + Nonsense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr11:5626618C>T c.571C>T c.(571-573)Cga>Tga p.R191* COAD 11 5626618 5626618 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:5626618C>T c.571C>T c.(571-573)Cga>Tga p.R191* COAD 11 5626712 5626712 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:5626712A>G c.665A>G c.(664-666)gAt>gGt p.D222G COAD 11 5626762 5626762 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5626762C>T c.715C>T c.(715-717)Cgt>Tgt p.R239C COAD 11 5631436 5631436 + Nonsense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:5631436C>T c.835C>T c.(835-837)Cga>Tga p.R279* COAD 11 5632025 5632025 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr11:5632025C>T c.920C>T c.(919-921)cCa>cTa p.P307L COAD 11 5632045 5632045 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:5632045C>A c.940C>A c.(940-942)Ctt>Att p.L314I COAD 11 5632245 5632245 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5632245C>A c.1140C>A c.(1138-1140)ttC>ttA p.F380L COAD 11 5632555 5632555 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:5632555C>T c.1450C>T c.(1450-1452)Cgt>Tgt p.R484C COADREAD 11 5626618 5626618 + Nonsense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr11:5626618C>T c.571C>T c.(571-573)Cga>Tga p.R191* COADREAD 11 5626618 5626618 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:5626618C>T c.571C>T c.(571-573)Cga>Tga p.R191* COADREAD 11 5626712 5626712 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:5626712A>G c.665A>G c.(664-666)gAt>gGt p.D222G COADREAD 11 5626762 5626762 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5626762C>T c.715C>T c.(715-717)Cgt>Tgt p.R239C COADREAD 11 5631436 5631436 + Nonsense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:5631436C>T c.835C>T c.(835-837)Cga>Tga p.R279* COADREAD 11 5632025 5632025 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr11:5632025C>T c.920C>T c.(919-921)cCa>cTa p.P307L COADREAD 11 5632045 5632045 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:5632045C>A c.940C>A c.(940-942)Ctt>Att p.L314I COADREAD 11 5632245 5632245 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5632245C>A c.1140C>A c.(1138-1140)ttC>ttA p.F380L COADREAD 11 5632525 5632525 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:5632525C>A c.1420C>A c.(1420-1422)Cct>Act p.P474T COADREAD 11 5632555 5632555 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:5632555C>T c.1450C>T c.(1450-1452)Cgt>Tgt p.R484C ESCA 11 5625768 5625768 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr11:5625768A>C c.428A>C c.(427-429)aAg>aCg p.K143T ESCA 11 5626645 5626645 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr11:5626645C>T c.598C>T c.(598-600)Cgg>Tgg p.R200W GBM 11 5625849 5625849 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chr11:5625849C>A c.509C>A c.(508-510)aCa>aAa p.T170K GBM 11 5626645 5626645 + Missense_Mutation SNP C C T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr11:5626645C>T c.598C>T c.(598-600)Cgg>Tgg p.R200W GBM 11 5631406 5631406 + Missense_Mutation SNP G G A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr11:5631406G>A c.805G>A c.(805-807)Gct>Act p.A269T GBMLGG 11 5624532 5624532 + 5'UTR SNP G G A TCGA-P5-A5F1-01A-11D-A289-08 TCGA-P5-A5F1-10A-01D-A289-08 g.chr11:5624532G>A GBMLGG 11 5625849 5625849 + Missense_Mutation SNP C C A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chr11:5625849C>A c.509C>A c.(508-510)aCa>aAa p.T170K GBMLGG 11 5626645 5626645 + Missense_Mutation SNP C C T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr11:5626645C>T c.598C>T c.(598-600)Cgg>Tgg p.R200W GBMLGG 11 5631406 5631406 + Missense_Mutation SNP G G A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr11:5631406G>A c.805G>A c.(805-807)Gct>Act p.A269T HNSC 11 5626677 5626677 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 g.chr11:5626677G>C c.630G>C c.(628-630)aaG>aaC p.K210N KIPAN 11 5624933 5624933 + Missense_Mutation SNP T T G TCGA-BP-4988-01A-01D-1462-08 TCGA-BP-4988-11A-01D-1462-08 g.chr11:5624933T>G c.391T>G c.(391-393)Ttc>Gtc p.F131V KIPAN 11 5624941 5624943 + In_Frame_Del DEL GGA GGA - TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr11:5624941_5624943delGGA c.399_401delGGA c.(397-402)gtggag>gtg p.E135del KIPAN 11 5626669 5626669 + Missense_Mutation SNP G G C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr11:5626669G>C c.622G>C c.(622-624)Gaa>Caa p.E208Q KIPAN 11 5632212 5632216 + Frame_Shift_Del DEL GGGGG GGGGG - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr11:5632212_5632216delGGGGG c.1107_1111delGGGGG c.(1105-1113)ctgggggtafs p.GV370fs KIRC 11 5624933 5624933 + Missense_Mutation SNP T T G TCGA-BP-4988-01A-01D-1462-08 TCGA-BP-4988-11A-01D-1462-08 g.chr11:5624933T>G c.391T>G c.(391-393)Ttc>Gtc p.F131V KIRC 11 5624941 5624943 + In_Frame_Del DEL GGA GGA - TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr11:5624941_5624943delGGA c.399_401delGGA c.(397-402)gtggag>gtg p.E135del KIRC 11 5626669 5626669 + Missense_Mutation SNP G G C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr11:5626669G>C c.622G>C c.(622-624)Gaa>Caa p.E208Q KIRC 11 5632212 5632216 + Frame_Shift_Del DEL GGGGG GGGGG - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr11:5632212_5632216delGGGGG c.1107_1111delGGGGG c.(1105-1113)ctgggggtafs p.GV370fs LGG 11 5624532 5624532 + 5'UTR SNP G G A TCGA-P5-A5F1-01A-11D-A289-08 TCGA-P5-A5F1-10A-01D-A289-08 g.chr11:5624532G>A LIHC 11 5624771 5624771 + Missense_Mutation SNP A A G TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr11:5624771A>G c.229A>G c.(229-231)Ata>Gta p.I77V LUAD 11 5624725 5624725 + Silent SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr11:5624725C>T c.183C>T c.(181-183)acC>acT p.T61T LUAD 11 5624859 5624859 + Missense_Mutation SNP T T C TCGA-97-7547-01A-11D-2036-08 TCGA-97-7547-10A-01D-2036-08 g.chr11:5624859T>C c.317T>C c.(316-318)cTc>cCc p.L106P LUAD 11 5624865 5624865 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr11:5624865G>A c.323G>A c.(322-324)tGt>tAt p.C108Y LUAD 11 5624904 5624904 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr11:5624904G>A c.362G>A c.(361-363)cGg>cAg p.R121Q LUAD 11 5631423 5631423 + Silent SNP G G C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr11:5631423G>C c.822G>C c.(820-822)ctG>ctC p.L274L LUAD 11 5632082 5632082 + Missense_Mutation SNP T T C TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr11:5632082T>C c.977T>C c.(976-978)gTg>gCg p.V326A LUSC 11 5626790 5626790 + Missense_Mutation SNP T T A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr11:5626790T>A c.743T>A c.(742-744)cTg>cAg p.L248Q LUSC 11 5632516 5632516 + Missense_Mutation SNP T T C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr11:5632516T>C c.1411T>C c.(1411-1413)Tat>Cat p.Y471H PAAD 11 5626734 5626734 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:5626734G>A c.687G>A c.(685-687)tcG>tcA p.S229S PRAD 11 5632424 5632424 + Missense_Mutation SNP A A G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 g.chr11:5632424A>G c.1319A>G c.(1318-1320)gAg>gGg p.E440G PRAD 11 5632556 5632556 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 g.chr11:5632556G>A c.1451G>A c.(1450-1452)cGt>cAt p.R484H READ 11 5632525 5632525 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:5632525C>A c.1420C>A c.(1420-1422)Cct>Act p.P474T SARC 11 5624955 5624955 + Missense_Mutation SNP A A T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 g.chr11:5624955A>T c.413A>T c.(412-414)cAg>cTg p.Q138L SKCM 11 5624743 5624743 + Missense_Mutation SNP C C G TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr11:5624743C>G c.201C>G c.(199-201)aaC>aaG p.N67K SKCM 11 5625835 5625835 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr11:5625835C>T c.495C>T c.(493-495)atC>atT p.I165I SKCM 11 5626584 5626584 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr11:5626584G>A c.537G>A c.(535-537)gaG>gaA p.E179E SKCM 11 5626672 5626672 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr11:5626672G>A c.625G>A c.(625-627)Gag>Aag p.E209K SKCM 11 5626711 5626711 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:5626711G>A c.664G>A c.(664-666)Gat>Aat p.D222N SKCM 11 5626743 5626743 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:5626743G>A c.696G>A c.(694-696)gaG>gaA p.E232E SKCM 11 5631789 5631789 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr11:5631789G>A c.899G>A c.(898-900)tGg>tAg p.W300* SKCM 11 5632083 5632083 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr11:5632083G>A c.978G>A c.(976-978)gtG>gtA p.V326V SKCM 11 5632084 5632084 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr11:5632084G>A c.979G>A c.(979-981)Gga>Aga p.G327R SKCM 11 5632103 5632103 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr11:5632103C>T c.998C>T c.(997-999)cCt>cTt p.P333L SKCM 11 5632314 5632314 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr11:5632314G>A c.1209G>A c.(1207-1209)gtG>gtA p.V403V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 11 5631781 5631781 single base substitution A G downstream_gene_variant AML-US 11 5631781 5631781 single base substitution A G exon_variant AML-US 11 5631781 5631781 single base substitution A G synonymous_variant Q122Q 366A>G AML-US 11 5631781 5631781 single base substitution A G synonymous_variant Q271Q 813A>G AML-US 11 5631781 5631781 single base substitution A G synonymous_variant Q297Q 891A>G AML-US 11 5631781 5631781 single base substitution A G synonymous_variant Q325Q 975A>G BLCA-CN 11 5624665 5624665 single base substitution A C intron_variant BLCA-CN 11 5624665 5624665 single base substitution A C synonymous_variant P41P 123A>C BLCA-CN 11 5624665 5624665 single base substitution A C synonymous_variant P69P 207A>C BLCA-CN 11 5624665 5624665 single base substitution A C upstream_gene_variant BLCA-CN 11 5632562 5632562 single base substitution C A downstream_gene_variant BLCA-CN 11 5632562 5632562 single base substitution C A exon_variant BLCA-CN 11 5632562 5632562 single base substitution C A missense_variant P311Q 932C>A BLCA-CN 11 5632562 5632562 single base substitution C A missense_variant P460Q 1379C>A BLCA-CN 11 5632562 5632562 single base substitution C A missense_variant P486Q 1457C>A BLCA-CN 11 5632562 5632562 single base substitution C A missense_variant P514Q 1541C>A BLCA-US 11 5624476 5624476 single base substitution G A intron_variant BLCA-US 11 5624476 5624476 single base substitution G A splice_region_variant BLCA-US 11 5624476 5624476 single base substitution G A upstream_gene_variant BLCA-US 11 5624860 5624860 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 11 5624860 5624860 single base substitution C G intron_variant BLCA-US 11 5624860 5624860 single base substitution C G synonymous_variant L106L 318C>G BLCA-US 11 5624860 5624860 single base substitution C G synonymous_variant L134L 402C>G BLCA-US 11 5624860 5624860 single base substitution C G upstream_gene_variant BRCA-EU 11 5612645 5612645 single base substitution G A upstream_gene_variant BRCA-EU 11 5612822 5612822 single base substitution G A upstream_gene_variant BRCA-EU 11 5613866 5613866 single base substitution G A upstream_gene_variant BRCA-EU 11 5613915 5613915 single base substitution A G upstream_gene_variant BRCA-EU 11 5614992 5614992 single base substitution G C upstream_gene_variant BRCA-EU 11 5615842 5615842 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 5616965 5616965 single base substitution T A upstream_gene_variant BRCA-EU 11 5618770 5618770 deletion of <=200bp A - intron_variant BRCA-EU 11 5619082 5619082 single base substitution G A intron_variant BRCA-EU 11 5620408 5620408 single base substitution T G intron_variant BRCA-EU 11 5620737 5620737 single base substitution C A intron_variant BRCA-EU 11 5621154 5621154 single base substitution A G intron_variant BRCA-EU 11 5622079 5622079 single base substitution G C intron_variant BRCA-EU 11 5622079 5622079 single base substitution G C upstream_gene_variant BRCA-EU 11 5622839 5622839 deletion of <=200bp T - intron_variant BRCA-EU 11 5622839 5622839 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 5623155 5623155 single base substitution G C intron_variant BRCA-EU 11 5623155 5623155 single base substitution G C upstream_gene_variant BRCA-EU 11 5624904 5624904 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 5624904 5624904 single base substitution G A intron_variant BRCA-EU 11 5624904 5624904 single base substitution G A missense_variant R121Q 362G>A BRCA-EU 11 5624904 5624904 single base substitution G A missense_variant R149Q 446G>A BRCA-EU 11 5624904 5624904 single base substitution G A missense_variant R95Q 284G>A BRCA-EU 11 5624904 5624904 single base substitution G A upstream_gene_variant BRCA-EU 11 5625293 5625293 single base substitution C T intron_variant BRCA-EU 11 5625293 5625293 single base substitution C T upstream_gene_variant BRCA-EU 11 5625928 5625980 deletion of <=200bp AGGAGTCCTTGTCCTGTCTGTCCTCTGATGCCATGACTAGAAGAGCTTCCCTT - 5_prime_UTR_variant BRCA-EU 11 5625928 5625980 deletion of <=200bp AGGAGTCCTTGTCCTGTCTGTCCTCTGATGCCATGACTAGAAGAGCTTCCCTT - intron_variant BRCA-EU 11 5625928 5625980 deletion of <=200bp AGGAGTCCTTGTCCTGTCTGTCCTCTGATGCCATGACTAGAAGAGCTTCCCTT - upstream_gene_variant BRCA-EU 11 5627962 5627962 single base substitution G A intron_variant BRCA-EU 11 5629403 5629403 single base substitution A G intron_variant BRCA-EU 11 5630453 5630453 single base substitution A G intron_variant BRCA-EU 11 5631563 5631563 single base substitution G A downstream_gene_variant BRCA-EU 11 5631563 5631563 single base substitution G A intron_variant BRCA-EU 11 5634616 5634616 single base substitution T C downstream_gene_variant BRCA-EU 11 5635046 5635046 single base substitution G T downstream_gene_variant BRCA-EU 11 5635502 5635502 single base substitution G C downstream_gene_variant BRCA-EU 11 5636001 5636001 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 5636663 5636663 single base substitution T C downstream_gene_variant BRCA-EU 11 5637347 5637347 single base substitution A T downstream_gene_variant BRCA-EU 11 5637576 5637576 single base substitution G A downstream_gene_variant BRCA-FR 11 5612822 5612822 single base substitution G A upstream_gene_variant BRCA-FR 11 5620408 5620408 single base substitution T G intron_variant BRCA-FR 11 5627962 5627962 single base substitution G A intron_variant BRCA-FR 11 5636663 5636663 single base substitution T C downstream_gene_variant BRCA-US 11 5617987 5617987 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 5617987 5617987 single base substitution G A exon_variant BRCA-US 11 5617987 5617987 single base substitution G A intron_variant BRCA-US 11 5617987 5617987 single base substitution G A upstream_gene_variant BRCA-US 11 5618077 5618077 single base substitution G C 5_prime_UTR_variant BRCA-US 11 5618077 5618077 single base substitution G C exon_variant BRCA-US 11 5618077 5618077 single base substitution G C intron_variant BRCA-US 11 5624497 5624497 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 5624497 5624497 single base substitution C G intron_variant BRCA-US 11 5624497 5624497 single base substitution C G missense_variant I13M 39C>G BRCA-US 11 5624497 5624497 single base substitution C G upstream_gene_variant BRCA-US 11 5624607 5624607 single base substitution T A intron_variant BRCA-US 11 5624607 5624607 single base substitution T A missense_variant L22Q 65T>A BRCA-US 11 5624607 5624607 single base substitution T A missense_variant L50Q 149T>A BRCA-US 11 5624607 5624607 single base substitution T A upstream_gene_variant BRCA-US 11 5624731 5624731 single base substitution C G intron_variant BRCA-US 11 5624731 5624731 single base substitution C G stop_gained Y63* 189C>G BRCA-US 11 5624731 5624731 single base substitution C G stop_gained Y91* 273C>G BRCA-US 11 5624731 5624731 single base substitution C G upstream_gene_variant BRCA-US 11 5626721 5626721 single base substitution A C exon_variant BRCA-US 11 5626721 5626721 single base substitution A C intron_variant BRCA-US 11 5626721 5626721 single base substitution A C missense_variant H199P 596A>C BRCA-US 11 5626721 5626721 single base substitution A C missense_variant H225P 674A>C BRCA-US 11 5626721 5626721 single base substitution A C missense_variant H253P 758A>C BRCA-US 11 5626721 5626721 single base substitution A C missense_variant H50P 149A>C BRCA-US 11 5626721 5626721 single base substitution A C upstream_gene_variant BRCA-US 11 5631431 5631431 single base substitution T A downstream_gene_variant BRCA-US 11 5631431 5631431 single base substitution T A exon_variant BRCA-US 11 5631431 5631431 single base substitution T A missense_variant M102K 305T>A BRCA-US 11 5631431 5631431 single base substitution T A missense_variant M251K 752T>A BRCA-US 11 5631431 5631431 single base substitution T A missense_variant M277K 830T>A BRCA-US 11 5631431 5631431 single base substitution T A missense_variant M305K 914T>A BRCA-US 11 5632299 5632299 single base substitution G C downstream_gene_variant BRCA-US 11 5632299 5632299 single base substitution G C exon_variant BRCA-US 11 5632299 5632299 single base substitution G C missense_variant Q223H 669G>C BRCA-US 11 5632299 5632299 single base substitution G C missense_variant Q372H 1116G>C BRCA-US 11 5632299 5632299 single base substitution G C missense_variant Q398H 1194G>C BRCA-US 11 5632299 5632299 single base substitution G C missense_variant Q426H 1278G>C BRCA-US 11 5632304 5632304 single base substitution G A downstream_gene_variant BRCA-US 11 5632304 5632304 single base substitution G A exon_variant BRCA-US 11 5632304 5632304 single base substitution G A missense_variant G225E 674G>A BRCA-US 11 5632304 5632304 single base substitution G A missense_variant G374E 1121G>A BRCA-US 11 5632304 5632304 single base substitution G A missense_variant G400E 1199G>A BRCA-US 11 5632304 5632304 single base substitution G A missense_variant G428E 1283G>A BRCA-US 11 5632399 5632399 single base substitution C T downstream_gene_variant BRCA-US 11 5632399 5632399 single base substitution C T exon_variant BRCA-US 11 5632399 5632399 single base substitution C T missense_variant R257C 769C>T BRCA-US 11 5632399 5632399 single base substitution C T missense_variant R406C 1216C>T BRCA-US 11 5632399 5632399 single base substitution C T missense_variant R432C 1294C>T BRCA-US 11 5632399 5632399 single base substitution C T missense_variant R460C 1378C>T BTCA-JP 11 5624780 5624780 single base substitution C T intron_variant BTCA-JP 11 5624780 5624780 single base substitution C T missense_variant R108W 322C>T BTCA-JP 11 5624780 5624780 single base substitution C T missense_variant R80W 238C>T BTCA-JP 11 5624780 5624780 single base substitution C T upstream_gene_variant BTCA-JP 11 5624789 5624789 single base substitution G A intron_variant BTCA-JP 11 5624789 5624789 single base substitution G A missense_variant E111K 331G>A BTCA-JP 11 5624789 5624789 single base substitution G A missense_variant E83K 247G>A BTCA-JP 11 5624789 5624789 single base substitution G A upstream_gene_variant BTCA-JP 11 5625799 5625799 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 11 5625799 5625799 single base substitution C T intron_variant BTCA-JP 11 5625799 5625799 single base substitution C T synonymous_variant N127N 381C>T BTCA-JP 11 5625799 5625799 single base substitution C T synonymous_variant N153N 459C>T BTCA-JP 11 5625799 5625799 single base substitution C T synonymous_variant N181N 543C>T BTCA-JP 11 5625799 5625799 single base substitution C T upstream_gene_variant CESC-US 11 5624476 5624476 single base substitution G A intron_variant CESC-US 11 5624476 5624476 single base substitution G A splice_region_variant CESC-US 11 5624476 5624476 single base substitution G A upstream_gene_variant COAD-US 11 5625762 5625764 deletion of <=200bp AGG - frameshift_variant QE116 COAD-US 11 5625762 5625764 deletion of <=200bp AGG - frameshift_variant QE142 COAD-US 11 5625762 5625764 deletion of <=200bp AGG - frameshift_variant QE170 COAD-US 11 5625762 5625764 deletion of <=200bp AGG - intron_variant COAD-US 11 5625762 5625764 deletion of <=200bp AGG - splice_acceptor_variant COAD-US 11 5625762 5625764 deletion of <=200bp AGG - upstream_gene_variant COAD-US 11 5626618 5626618 single base substitution C T exon_variant COAD-US 11 5626618 5626618 single base substitution C T intron_variant COAD-US 11 5626618 5626618 single base substitution C T stop_gained R16* 46C>T COAD-US 11 5626618 5626618 single base substitution C T stop_gained R165* 493C>T COAD-US 11 5626618 5626618 single base substitution C T stop_gained R191* 571C>T COAD-US 11 5626618 5626618 single base substitution C T stop_gained R219* 655C>T COAD-US 11 5626618 5626618 single base substitution C T upstream_gene_variant COAD-US 11 5626673 5626675 deletion of <=200bp AGA - exon_variant COAD-US 11 5626673 5626675 deletion of <=200bp AGA - inframe_deletion EK183E COAD-US 11 5626673 5626675 deletion of <=200bp AGA - inframe_deletion EK209E COAD-US 11 5626673 5626675 deletion of <=200bp AGA - inframe_deletion EK237E COAD-US 11 5626673 5626675 deletion of <=200bp AGA - inframe_deletion EK34E COAD-US 11 5626673 5626675 deletion of <=200bp AGA - intron_variant COAD-US 11 5626673 5626675 deletion of <=200bp AGA - upstream_gene_variant COAD-US 11 5632018 5632018 single base substitution C A downstream_gene_variant COAD-US 11 5632018 5632018 single base substitution C A exon_variant COAD-US 11 5632018 5632018 single base substitution C A missense_variant L130M 388C>A COAD-US 11 5632018 5632018 single base substitution C A missense_variant L279M 835C>A COAD-US 11 5632018 5632018 single base substitution C A missense_variant L305M 913C>A COAD-US 11 5632018 5632018 single base substitution C A missense_variant L333M 997C>A COCA-CN 11 5614062 5614062 single base substitution A G upstream_gene_variant COCA-CN 11 5614136 5614136 single base substitution G T upstream_gene_variant COCA-CN 11 5618115 5618115 single base substitution T C 5_prime_UTR_variant COCA-CN 11 5618115 5618115 single base substitution T C exon_variant COCA-CN 11 5618115 5618115 single base substitution T C intron_variant COCA-CN 11 5625251 5625251 single base substitution C T intron_variant COCA-CN 11 5625251 5625251 single base substitution C T upstream_gene_variant COCA-CN 11 5625760 5625760 single base substitution C A intron_variant COCA-CN 11 5625760 5625760 single base substitution C A splice_region_variant COCA-CN 11 5625760 5625760 single base substitution C A upstream_gene_variant COCA-CN 11 5625817 5625817 single base substitution G T 5_prime_UTR_variant COCA-CN 11 5625817 5625817 single base substitution G T intron_variant COCA-CN 11 5625817 5625817 single base substitution G T missense_variant E133D 399G>T COCA-CN 11 5625817 5625817 single base substitution G T missense_variant E159D 477G>T COCA-CN 11 5625817 5625817 single base substitution G T missense_variant E187D 561G>T COCA-CN 11 5625817 5625817 single base substitution G T upstream_gene_variant COCA-CN 11 5625828 5625828 single base substitution C T 5_prime_UTR_variant COCA-CN 11 5625828 5625828 single base substitution C T intron_variant COCA-CN 11 5625828 5625828 single base substitution C T missense_variant A137V 410C>T COCA-CN 11 5625828 5625828 single base substitution C T missense_variant A163V 488C>T COCA-CN 11 5625828 5625828 single base substitution C T missense_variant A191V 572C>T COCA-CN 11 5625828 5625828 single base substitution C T upstream_gene_variant COCA-CN 11 5625893 5625893 single base substitution C T 5_prime_UTR_variant COCA-CN 11 5625893 5625893 single base substitution C T intron_variant COCA-CN 11 5625893 5625893 single base substitution C T upstream_gene_variant COCA-CN 11 5626763 5626763 single base substitution G A exon_variant COCA-CN 11 5626763 5626763 single base substitution G A intron_variant COCA-CN 11 5626763 5626763 single base substitution G A missense_variant R213H 638G>A COCA-CN 11 5626763 5626763 single base substitution G A missense_variant R239H 716G>A COCA-CN 11 5626763 5626763 single base substitution G A missense_variant R267H 800G>A COCA-CN 11 5626763 5626763 single base substitution G A missense_variant R64H 191G>A COCA-CN 11 5626763 5626763 single base substitution G A upstream_gene_variant COCA-CN 11 5631351 5631351 single base substitution A G intron_variant COCA-CN 11 5631384 5631384 single base substitution C A exon_variant COCA-CN 11 5631384 5631384 single base substitution C A missense_variant F235L 705C>A COCA-CN 11 5631384 5631384 single base substitution C A missense_variant F261L 783C>A COCA-CN 11 5631384 5631384 single base substitution C A missense_variant F289L 867C>A COCA-CN 11 5631384 5631384 single base substitution C A missense_variant F86L 258C>A COCA-CN 11 5631553 5631553 single base substitution C T downstream_gene_variant COCA-CN 11 5631553 5631553 single base substitution C T intron_variant COCA-CN 11 5631760 5631760 single base substitution T C downstream_gene_variant COCA-CN 11 5631760 5631760 single base substitution T C exon_variant COCA-CN 11 5631760 5631760 single base substitution T C splice_region_variant COCA-CN 11 5632229 5632229 single base substitution C A downstream_gene_variant COCA-CN 11 5632229 5632229 single base substitution C A exon_variant COCA-CN 11 5632229 5632229 single base substitution C A stop_gained S200* 599C>A COCA-CN 11 5632229 5632229 single base substitution C A stop_gained S349* 1046C>A COCA-CN 11 5632229 5632229 single base substitution C A stop_gained S375* 1124C>A COCA-CN 11 5632229 5632229 single base substitution C A stop_gained S403* 1208C>A COCA-CN 11 5632551 5632551 single base substitution C T downstream_gene_variant COCA-CN 11 5632551 5632551 single base substitution C T exon_variant COCA-CN 11 5632551 5632551 single base substitution C T synonymous_variant T307T 921C>T COCA-CN 11 5632551 5632551 single base substitution C T synonymous_variant T456T 1368C>T COCA-CN 11 5632551 5632551 single base substitution C T synonymous_variant T482T 1446C>T COCA-CN 11 5632551 5632551 single base substitution C T synonymous_variant T510T 1530C>T COCA-CN 11 5632695 5632695 single base substitution C A 3_prime_UTR_variant COCA-CN 11 5632695 5632695 single base substitution C A downstream_gene_variant COCA-CN 11 5632695 5632695 single base substitution C A exon_variant COCA-CN 11 5632723 5632723 single base substitution G A 3_prime_UTR_variant COCA-CN 11 5632723 5632723 single base substitution G A downstream_gene_variant COCA-CN 11 5632723 5632723 single base substitution G A exon_variant COCA-CN 11 5632730 5632730 single base substitution C T 3_prime_UTR_variant COCA-CN 11 5632730 5632730 single base substitution C T downstream_gene_variant COCA-CN 11 5632730 5632730 single base substitution C T exon_variant COCA-CN 11 5638781 5638781 single base substitution C T downstream_gene_variant COCA-CN 11 5638821 5638821 single base substitution C T downstream_gene_variant EOPC-DE 11 5615416 5615416 single base substitution C T upstream_gene_variant EOPC-DE 11 5626212 5626212 single base substitution G A intron_variant EOPC-DE 11 5626212 5626212 single base substitution G A upstream_gene_variant EOPC-DE 11 5626314 5626314 single base substitution C T intron_variant EOPC-DE 11 5626314 5626314 single base substitution C T upstream_gene_variant ESAD-UK 11 5613189 5613189 single base substitution T C upstream_gene_variant ESAD-UK 11 5613939 5613939 single base substitution G C upstream_gene_variant ESAD-UK 11 5614763 5614763 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 5615135 5615135 single base substitution C T upstream_gene_variant ESAD-UK 11 5615580 5615580 single base substitution C T upstream_gene_variant ESAD-UK 11 5615646 5615646 single base substitution T C upstream_gene_variant ESAD-UK 11 5615757 5615757 single base substitution A C upstream_gene_variant ESAD-UK 11 5618978 5618978 single base substitution G A intron_variant ESAD-UK 11 5620429 5620429 single base substitution A G intron_variant ESAD-UK 11 5620562 5620562 single base substitution G A intron_variant ESAD-UK 11 5620972 5620972 single base substitution G T intron_variant ESAD-UK 11 5621516 5621516 single base substitution C G intron_variant ESAD-UK 11 5621516 5621516 single base substitution C G upstream_gene_variant ESAD-UK 11 5623651 5623651 single base substitution C T intron_variant ESAD-UK 11 5623651 5623651 single base substitution C T upstream_gene_variant ESAD-UK 11 5623707 5623707 single base substitution T C intron_variant ESAD-UK 11 5623707 5623707 single base substitution T C upstream_gene_variant ESAD-UK 11 5623938 5623938 single base substitution C T intron_variant ESAD-UK 11 5623938 5623938 single base substitution C T upstream_gene_variant ESAD-UK 11 5626323 5626323 single base substitution G T intron_variant ESAD-UK 11 5626323 5626323 single base substitution G T upstream_gene_variant ESAD-UK 11 5626463 5626463 single base substitution G T exon_variant ESAD-UK 11 5626463 5626463 single base substitution G T intron_variant ESAD-UK 11 5626463 5626463 single base substitution G T upstream_gene_variant ESAD-UK 11 5628523 5628523 single base substitution A G intron_variant ESAD-UK 11 5628723 5628723 single base substitution T G intron_variant ESAD-UK 11 5629726 5629726 single base substitution C A intron_variant ESAD-UK 11 5629727 5629727 single base substitution A C intron_variant ESAD-UK 11 5630627 5630627 single base substitution C A intron_variant ESAD-UK 11 5631239 5631239 single base substitution C A intron_variant ESAD-UK 11 5631542 5631542 single base substitution G A downstream_gene_variant ESAD-UK 11 5631542 5631542 single base substitution G A intron_variant ESAD-UK 11 5632414 5632414 single base substitution T G downstream_gene_variant ESAD-UK 11 5632414 5632414 single base substitution T G exon_variant ESAD-UK 11 5632414 5632414 single base substitution T G missense_variant L262V 784T>G ESAD-UK 11 5632414 5632414 single base substitution T G missense_variant L411V 1231T>G ESAD-UK 11 5632414 5632414 single base substitution T G missense_variant L437V 1309T>G ESAD-UK 11 5632414 5632414 single base substitution T G missense_variant L465V 1393T>G ESAD-UK 11 5632591 5632591 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 5632591 5632591 single base substitution C T downstream_gene_variant ESAD-UK 11 5632591 5632591 single base substitution C T exon_variant ESAD-UK 11 5633103 5633103 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 5633103 5633103 single base substitution G A downstream_gene_variant ESAD-UK 11 5633103 5633103 single base substitution G A exon_variant ESAD-UK 11 5633136 5633136 single base substitution T A 3_prime_UTR_variant ESAD-UK 11 5633136 5633136 single base substitution T A downstream_gene_variant ESAD-UK 11 5633136 5633136 single base substitution T A exon_variant ESAD-UK 11 5633450 5633450 single base substitution G T 3_prime_UTR_variant ESAD-UK 11 5633450 5633450 single base substitution G T downstream_gene_variant ESAD-UK 11 5633450 5633450 single base substitution G T exon_variant ESAD-UK 11 5633906 5633906 single base substitution A G 3_prime_UTR_variant ESAD-UK 11 5633906 5633906 single base substitution A G downstream_gene_variant ESAD-UK 11 5633906 5633906 single base substitution A G exon_variant ESAD-UK 11 5634629 5634629 single base substitution T C downstream_gene_variant ESAD-UK 11 5635654 5635654 single base substitution C T downstream_gene_variant ESAD-UK 11 5635841 5635841 single base substitution C T downstream_gene_variant ESAD-UK 11 5637074 5637074 single base substitution C T downstream_gene_variant ESAD-UK 11 5639000 5639000 single base substitution T G downstream_gene_variant ESAD-UK 11 5639077 5639077 single base substitution A T downstream_gene_variant ESAD-UK 11 5639127 5639127 single base substitution G A downstream_gene_variant ESCA-CN 11 5626733 5626733 single base substitution C T exon_variant ESCA-CN 11 5626733 5626733 single base substitution C T intron_variant ESCA-CN 11 5626733 5626733 single base substitution C T missense_variant S203L 608C>T ESCA-CN 11 5626733 5626733 single base substitution C T missense_variant S229L 686C>T ESCA-CN 11 5626733 5626733 single base substitution C T missense_variant S257L 770C>T ESCA-CN 11 5626733 5626733 single base substitution C T missense_variant S54L 161C>T ESCA-CN 11 5626733 5626733 single base substitution C T upstream_gene_variant GBM-US 11 5625849 5625849 single base substitution C A 5_prime_UTR_variant GBM-US 11 5625849 5625849 single base substitution C A intron_variant GBM-US 11 5625849 5625849 single base substitution C A missense_variant T144K 431C>A GBM-US 11 5625849 5625849 single base substitution C A missense_variant T170K 509C>A GBM-US 11 5625849 5625849 single base substitution C A missense_variant T198K 593C>A GBM-US 11 5625849 5625849 single base substitution C A upstream_gene_variant GBM-US 11 5626645 5626645 single base substitution C T exon_variant GBM-US 11 5626645 5626645 single base substitution C T intron_variant GBM-US 11 5626645 5626645 single base substitution C T missense_variant R174W 520C>T GBM-US 11 5626645 5626645 single base substitution C T missense_variant R200W 598C>T GBM-US 11 5626645 5626645 single base substitution C T missense_variant R228W 682C>T GBM-US 11 5626645 5626645 single base substitution C T missense_variant R25W 73C>T GBM-US 11 5626645 5626645 single base substitution C T upstream_gene_variant GBM-US 11 5631406 5631406 single base substitution G A exon_variant GBM-US 11 5631406 5631406 single base substitution G A missense_variant A243T 727G>A GBM-US 11 5631406 5631406 single base substitution G A missense_variant A269T 805G>A GBM-US 11 5631406 5631406 single base substitution G A missense_variant A297T 889G>A GBM-US 11 5631406 5631406 single base substitution G A missense_variant A94T 280G>A KIRC-US 11 5624933 5624933 single base substitution T G 5_prime_UTR_variant KIRC-US 11 5624933 5624933 single base substitution T G intron_variant KIRC-US 11 5624933 5624933 single base substitution T G missense_variant F105V 313T>G KIRC-US 11 5624933 5624933 single base substitution T G missense_variant F131V 391T>G KIRC-US 11 5624933 5624933 single base substitution T G missense_variant F159V 475T>G KIRC-US 11 5624933 5624933 single base substitution T G upstream_gene_variant KIRC-US 11 5624941 5624943 deletion of <=200bp GGA - 5_prime_UTR_variant KIRC-US 11 5624941 5624943 deletion of <=200bp GGA - inframe_deletion VE107V KIRC-US 11 5624941 5624943 deletion of <=200bp GGA - inframe_deletion VE133V KIRC-US 11 5624941 5624943 deletion of <=200bp GGA - inframe_deletion VE161V KIRC-US 11 5624941 5624943 deletion of <=200bp GGA - intron_variant KIRC-US 11 5624941 5624943 deletion of <=200bp GGA - upstream_gene_variant KIRC-US 11 5632213 5632213 single base substitution G A downstream_gene_variant KIRC-US 11 5632213 5632213 single base substitution G A exon_variant KIRC-US 11 5632213 5632213 single base substitution G A missense_variant G195R 583G>A KIRC-US 11 5632213 5632213 single base substitution G A missense_variant G344R 1030G>A KIRC-US 11 5632213 5632213 single base substitution G A missense_variant G370R 1108G>A KIRC-US 11 5632213 5632213 single base substitution G A missense_variant G398R 1192G>A LAML-KR 11 5626500 5626500 single base substitution C T exon_variant LAML-KR 11 5626500 5626500 single base substitution C T intron_variant LAML-KR 11 5626500 5626500 single base substitution C T upstream_gene_variant LAML-KR 11 5637099 5637099 single base substitution C A downstream_gene_variant LGG-US 11 5624532 5624532 single base substitution G A 5_prime_UTR_variant LGG-US 11 5624532 5624532 single base substitution G A intron_variant LGG-US 11 5624532 5624532 single base substitution G A missense_variant R25K 74G>A LGG-US 11 5624532 5624532 single base substitution G A upstream_gene_variant LICA-CN 11 5626771 5626771 single base substitution C T exon_variant LICA-CN 11 5626771 5626771 single base substitution C T intron_variant LICA-CN 11 5626771 5626771 single base substitution C T stop_gained Q216* 646C>T LICA-CN 11 5626771 5626771 single base substitution C T stop_gained Q242* 724C>T LICA-CN 11 5626771 5626771 single base substitution C T stop_gained Q270* 808C>T LICA-CN 11 5626771 5626771 single base substitution C T stop_gained Q67* 199C>T LICA-CN 11 5626771 5626771 single base substitution C T upstream_gene_variant LICA-FR 11 5624716 5624716 single base substitution G A intron_variant LICA-FR 11 5624716 5624716 single base substitution G A synonymous_variant V58V 174G>A LICA-FR 11 5624716 5624716 single base substitution G A synonymous_variant V86V 258G>A LICA-FR 11 5624716 5624716 single base substitution G A upstream_gene_variant LICA-FR 11 5624849 5624849 single base substitution A C 5_prime_UTR_variant LICA-FR 11 5624849 5624849 single base substitution A C intron_variant LICA-FR 11 5624849 5624849 single base substitution A C missense_variant K103Q 307A>C LICA-FR 11 5624849 5624849 single base substitution A C missense_variant K131Q 391A>C LICA-FR 11 5624849 5624849 single base substitution A C upstream_gene_variant LICA-FR 11 5632063 5632063 single base substitution C T downstream_gene_variant LICA-FR 11 5632063 5632063 single base substitution C T exon_variant LICA-FR 11 5632063 5632063 single base substitution C T missense_variant R145W 433C>T LICA-FR 11 5632063 5632063 single base substitution C T missense_variant R294W 880C>T LICA-FR 11 5632063 5632063 single base substitution C T missense_variant R320W 958C>T LICA-FR 11 5632063 5632063 single base substitution C T missense_variant R348W 1042C>T LIHC-US 11 5624771 5624771 single base substitution A G intron_variant LIHC-US 11 5624771 5624771 single base substitution A G missense_variant I105V 313A>G LIHC-US 11 5624771 5624771 single base substitution A G missense_variant I77V 229A>G LIHC-US 11 5624771 5624771 single base substitution A G upstream_gene_variant LINC-JP 11 5618304 5618304 single base substitution A T intron_variant LINC-JP 11 5624451 5624451 single base substitution T A intron_variant LINC-JP 11 5624451 5624451 single base substitution T A upstream_gene_variant LINC-JP 11 5624581 5624581 single base substitution G T intron_variant LINC-JP 11 5624581 5624581 single base substitution G T synonymous_variant V13V 39G>T LINC-JP 11 5624581 5624581 single base substitution G T synonymous_variant V41V 123G>T LINC-JP 11 5624581 5624581 single base substitution G T upstream_gene_variant LINC-JP 11 5628061 5628061 single base substitution A G intron_variant LIRI-JP 11 5612657 5612657 single base substitution T C upstream_gene_variant LIRI-JP 11 5613695 5613695 single base substitution G A upstream_gene_variant LIRI-JP 11 5615351 5615351 single base substitution T C upstream_gene_variant LIRI-JP 11 5621603 5621603 single base substitution T G intron_variant LIRI-JP 11 5621603 5621603 single base substitution T G upstream_gene_variant LIRI-JP 11 5628117 5628117 single base substitution G T intron_variant LIRI-JP 11 5630302 5630302 single base substitution T C intron_variant LIRI-JP 11 5631201 5631201 single base substitution T C intron_variant LIRI-JP 11 5632667 5632667 single base substitution T G 3_prime_UTR_variant LIRI-JP 11 5632667 5632667 single base substitution T G downstream_gene_variant LIRI-JP 11 5632667 5632667 single base substitution T G exon_variant LIRI-JP 11 5633019 5633019 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 5633019 5633019 single base substitution T C downstream_gene_variant LIRI-JP 11 5633019 5633019 single base substitution T C exon_variant LIRI-JP 11 5634030 5634030 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 5634030 5634030 single base substitution T C downstream_gene_variant LIRI-JP 11 5634030 5634030 single base substitution T C exon_variant LIRI-JP 11 5635846 5635846 single base substitution A G downstream_gene_variant LIRI-JP 11 5638883 5638883 single base substitution T C downstream_gene_variant LUSC-KR 11 5612393 5612393 single base substitution C G upstream_gene_variant LUSC-KR 11 5615019 5615019 single base substitution G T upstream_gene_variant LUSC-KR 11 5617712 5617712 single base substitution A G intron_variant LUSC-KR 11 5617712 5617712 single base substitution A G upstream_gene_variant LUSC-KR 11 5623737 5623737 single base substitution C A intron_variant LUSC-KR 11 5623737 5623737 single base substitution C A upstream_gene_variant LUSC-KR 11 5624593 5624593 single base substitution C T intron_variant LUSC-KR 11 5624593 5624593 single base substitution C T synonymous_variant I17I 51C>T LUSC-KR 11 5624593 5624593 single base substitution C T synonymous_variant I45I 135C>T LUSC-KR 11 5624593 5624593 single base substitution C T upstream_gene_variant LUSC-KR 11 5625896 5625896 single base substitution G C 5_prime_UTR_variant LUSC-KR 11 5625896 5625896 single base substitution G C intron_variant LUSC-KR 11 5625896 5625896 single base substitution G C upstream_gene_variant LUSC-KR 11 5633600 5633600 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 5633600 5633600 single base substitution A G downstream_gene_variant LUSC-KR 11 5633600 5633600 single base substitution A G exon_variant LUSC-KR 11 5633689 5633689 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 5633689 5633689 single base substitution A G downstream_gene_variant LUSC-KR 11 5633689 5633689 single base substitution A G exon_variant LUSC-KR 11 5633747 5633747 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 5633747 5633747 single base substitution C T downstream_gene_variant LUSC-KR 11 5633747 5633747 single base substitution C T exon_variant LUSC-KR 11 5634045 5634045 single base substitution T A 3_prime_UTR_variant LUSC-KR 11 5634045 5634045 single base substitution T A downstream_gene_variant LUSC-KR 11 5634045 5634045 single base substitution T A exon_variant LUSC-US 11 5626790 5626790 single base substitution T A exon_variant LUSC-US 11 5626790 5626790 single base substitution T A intron_variant LUSC-US 11 5626790 5626790 single base substitution T A missense_variant L222Q 665T>A LUSC-US 11 5626790 5626790 single base substitution T A missense_variant L248Q 743T>A LUSC-US 11 5626790 5626790 single base substitution T A missense_variant L276Q 827T>A LUSC-US 11 5626790 5626790 single base substitution T A missense_variant L73Q 218T>A LUSC-US 11 5632516 5632516 single base substitution T C downstream_gene_variant LUSC-US 11 5632516 5632516 single base substitution T C exon_variant LUSC-US 11 5632516 5632516 single base substitution T C missense_variant Y296H 886T>C LUSC-US 11 5632516 5632516 single base substitution T C missense_variant Y445H 1333T>C LUSC-US 11 5632516 5632516 single base substitution T C missense_variant Y471H 1411T>C LUSC-US 11 5632516 5632516 single base substitution T C missense_variant Y499H 1495T>C MALY-DE 11 5612869 5612869 single base substitution A C upstream_gene_variant MALY-DE 11 5614381 5614381 single base substitution T G upstream_gene_variant MALY-DE 11 5616167 5616167 single base substitution T C upstream_gene_variant MALY-DE 11 5618464 5618464 single base substitution C T intron_variant MALY-DE 11 5618770 5618770 deletion of <=200bp A - intron_variant MALY-DE 11 5619463 5619463 single base substitution T A intron_variant MALY-DE 11 5621194 5621194 single base substitution G T intron_variant MALY-DE 11 5628434 5628434 insertion of <=200bp - A intron_variant MALY-DE 11 5632753 5632753 single base substitution G A 3_prime_UTR_variant MALY-DE 11 5632753 5632753 single base substitution G A downstream_gene_variant MALY-DE 11 5632753 5632753 single base substitution G A exon_variant MALY-DE 11 5634660 5634660 single base substitution G A downstream_gene_variant MALY-DE 11 5638619 5638619 single base substitution A G downstream_gene_variant MELA-AU 11 5612363 5612363 single base substitution G A upstream_gene_variant MELA-AU 11 5612981 5612981 single base substitution G A upstream_gene_variant MELA-AU 11 5613032 5613032 single base substitution C T upstream_gene_variant MELA-AU 11 5613093 5613093 single base substitution T G upstream_gene_variant MELA-AU 11 5613360 5613360 single base substitution G A upstream_gene_variant MELA-AU 11 5613856 5613856 single base substitution G A upstream_gene_variant MELA-AU 11 5614222 5614222 single base substitution G A upstream_gene_variant MELA-AU 11 5614250 5614250 single base substitution A C upstream_gene_variant MELA-AU 11 5614293 5614293 single base substitution G A upstream_gene_variant MELA-AU 11 5614662 5614662 single base substitution G A upstream_gene_variant MELA-AU 11 5614682 5614682 single base substitution T A upstream_gene_variant MELA-AU 11 5614853 5614853 single base substitution T C upstream_gene_variant MELA-AU 11 5615009 5615009 single base substitution C T upstream_gene_variant MELA-AU 11 5615402 5615402 single base substitution C T upstream_gene_variant MELA-AU 11 5615495 5615495 single base substitution G A upstream_gene_variant MELA-AU 11 5615526 5615526 single base substitution C T upstream_gene_variant MELA-AU 11 5615644 5615644 single base substitution C T upstream_gene_variant MELA-AU 11 5615782 5615782 single base substitution C T upstream_gene_variant MELA-AU 11 5615783 5615783 single base substitution C T upstream_gene_variant MELA-AU 11 5616034 5616034 single base substitution G A upstream_gene_variant MELA-AU 11 5616131 5616131 single base substitution C T upstream_gene_variant MELA-AU 11 5616186 5616186 single base substitution G A upstream_gene_variant MELA-AU 11 5616352 5616352 single base substitution T A upstream_gene_variant MELA-AU 11 5616358 5616358 single base substitution C T upstream_gene_variant MELA-AU 11 5616371 5616371 single base substitution C T upstream_gene_variant MELA-AU 11 5616691 5616691 single base substitution C T upstream_gene_variant MELA-AU 11 5617225 5617225 single base substitution C T upstream_gene_variant MELA-AU 11 5617396 5617396 single base substitution A C 5_prime_UTR_variant MELA-AU 11 5617396 5617396 single base substitution A C upstream_gene_variant MELA-AU 11 5618118 5618118 single base substitution C T 5_prime_UTR_variant MELA-AU 11 5618118 5618118 single base substitution C T exon_variant MELA-AU 11 5618118 5618118 single base substitution C T intron_variant MELA-AU 11 5618571 5618571 single base substitution C T intron_variant MELA-AU 11 5619666 5619666 single base substitution G A intron_variant MELA-AU 11 5619968 5619968 single base substitution C T intron_variant MELA-AU 11 5620089 5620089 single base substitution C T intron_variant MELA-AU 11 5620535 5620535 single base substitution G A intron_variant MELA-AU 11 5620664 5620664 single base substitution C T intron_variant MELA-AU 11 5620866 5620866 single base substitution C T intron_variant MELA-AU 11 5621867 5621867 single base substitution T G intron_variant MELA-AU 11 5621867 5621867 single base substitution T G upstream_gene_variant MELA-AU 11 5622085 5622085 single base substitution C T intron_variant MELA-AU 11 5622085 5622085 single base substitution C T upstream_gene_variant MELA-AU 11 5622178 5622178 single base substitution C T intron_variant MELA-AU 11 5622178 5622178 single base substitution C T upstream_gene_variant MELA-AU 11 5622674 5622674 single base substitution G A intron_variant MELA-AU 11 5622674 5622674 single base substitution G A upstream_gene_variant MELA-AU 11 5622956 5622956 single base substitution C T intron_variant MELA-AU 11 5622956 5622956 single base substitution C T upstream_gene_variant MELA-AU 11 5623666 5623666 single base substitution C T intron_variant MELA-AU 11 5623666 5623666 single base substitution C T upstream_gene_variant MELA-AU 11 5623735 5623735 single base substitution A C intron_variant MELA-AU 11 5623735 5623735 single base substitution A C upstream_gene_variant MELA-AU 11 5623737 5623737 single base substitution C T intron_variant MELA-AU 11 5623737 5623737 single base substitution C T upstream_gene_variant MELA-AU 11 5623833 5623833 single base substitution G A intron_variant MELA-AU 11 5623833 5623833 single base substitution G A upstream_gene_variant MELA-AU 11 5623927 5623927 single base substitution T C intron_variant MELA-AU 11 5623927 5623927 single base substitution T C upstream_gene_variant MELA-AU 11 5624287 5624287 single base substitution T A intron_variant MELA-AU 11 5624287 5624287 single base substitution T A upstream_gene_variant MELA-AU 11 5624476 5624476 single base substitution G A intron_variant MELA-AU 11 5624476 5624476 single base substitution G A splice_region_variant MELA-AU 11 5624476 5624476 single base substitution G A upstream_gene_variant MELA-AU 11 5624570 5624570 single base substitution C T intron_variant MELA-AU 11 5624570 5624570 single base substitution C T stop_gained R10* 28C>T MELA-AU 11 5624570 5624570 single base substitution C T stop_gained R38* 112C>T MELA-AU 11 5624570 5624570 single base substitution C T upstream_gene_variant MELA-AU 11 5624747 5624747 single base substitution C T intron_variant MELA-AU 11 5624747 5624747 single base substitution C T missense_variant R69W 205C>T MELA-AU 11 5624747 5624747 single base substitution C T missense_variant R97W 289C>T MELA-AU 11 5624747 5624747 single base substitution C T upstream_gene_variant MELA-AU 11 5624872 5624873 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 11 5624872 5624873 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 5624872 5624873 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant ED110EN MELA-AU 11 5624872 5624873 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant ED138EN MELA-AU 11 5624872 5624873 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant ED84EN MELA-AU 11 5624872 5624873 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 5625294 5625294 single base substitution C A intron_variant MELA-AU 11 5625294 5625294 single base substitution C A upstream_gene_variant MELA-AU 11 5626260 5626260 single base substitution G A intron_variant MELA-AU 11 5626260 5626260 single base substitution G A upstream_gene_variant MELA-AU 11 5626455 5626455 single base substitution C A exon_variant MELA-AU 11 5626455 5626455 single base substitution C A intron_variant MELA-AU 11 5626455 5626455 single base substitution C A upstream_gene_variant MELA-AU 11 5626584 5626584 single base substitution G A exon_variant MELA-AU 11 5626584 5626584 single base substitution G A intron_variant MELA-AU 11 5626584 5626584 single base substitution G A synonymous_variant E153E 459G>A MELA-AU 11 5626584 5626584 single base substitution G A synonymous_variant E179E 537G>A MELA-AU 11 5626584 5626584 single base substitution G A synonymous_variant E207E 621G>A MELA-AU 11 5626584 5626584 single base substitution G A synonymous_variant E4E 12G>A MELA-AU 11 5626584 5626584 single base substitution G A upstream_gene_variant MELA-AU 11 5626711 5626711 single base substitution G A exon_variant MELA-AU 11 5626711 5626711 single base substitution G A intron_variant MELA-AU 11 5626711 5626711 single base substitution G A missense_variant D196N 586G>A MELA-AU 11 5626711 5626711 single base substitution G A missense_variant D222N 664G>A MELA-AU 11 5626711 5626711 single base substitution G A missense_variant D250N 748G>A MELA-AU 11 5626711 5626711 single base substitution G A missense_variant D47N 139G>A MELA-AU 11 5626711 5626711 single base substitution G A upstream_gene_variant MELA-AU 11 5626823 5626823 single base substitution C T intron_variant MELA-AU 11 5627323 5627323 single base substitution C T intron_variant MELA-AU 11 5627796 5627796 single base substitution T A intron_variant MELA-AU 11 5627972 5627972 single base substitution C T intron_variant MELA-AU 11 5628926 5628926 single base substitution C T intron_variant MELA-AU 11 5629245 5629245 single base substitution G A intron_variant MELA-AU 11 5629806 5629806 single base substitution G A intron_variant MELA-AU 11 5630455 5630455 single base substitution G A intron_variant MELA-AU 11 5630547 5630547 single base substitution A T intron_variant MELA-AU 11 5630922 5630922 single base substitution G A intron_variant MELA-AU 11 5631107 5631107 single base substitution C T intron_variant MELA-AU 11 5631302 5631302 single base substitution G A intron_variant MELA-AU 11 5631358 5631358 single base substitution A G intron_variant MELA-AU 11 5631553 5631553 single base substitution C T downstream_gene_variant MELA-AU 11 5631553 5631553 single base substitution C T intron_variant MELA-AU 11 5632083 5632084 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 5632083 5632084 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 5632083 5632084 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant VG151VR MELA-AU 11 5632083 5632084 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant VG300VR MELA-AU 11 5632083 5632084 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant VG326VR MELA-AU 11 5632083 5632084 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant VG354VR MELA-AU 11 5632314 5632314 single base substitution G A downstream_gene_variant MELA-AU 11 5632314 5632314 single base substitution G A exon_variant MELA-AU 11 5632314 5632314 single base substitution G A synonymous_variant V228V 684G>A MELA-AU 11 5632314 5632314 single base substitution G A synonymous_variant V377V 1131G>A MELA-AU 11 5632314 5632314 single base substitution G A synonymous_variant V403V 1209G>A MELA-AU 11 5632314 5632314 single base substitution G A synonymous_variant V431V 1293G>A MELA-AU 11 5632498 5632498 single base substitution C T downstream_gene_variant MELA-AU 11 5632498 5632498 single base substitution C T exon_variant MELA-AU 11 5632498 5632498 single base substitution C T missense_variant P290S 868C>T MELA-AU 11 5632498 5632498 single base substitution C T missense_variant P439S 1315C>T MELA-AU 11 5632498 5632498 single base substitution C T missense_variant P465S 1393C>T MELA-AU 11 5632498 5632498 single base substitution C T missense_variant P493S 1477C>T MELA-AU 11 5633152 5633152 single base substitution T A 3_prime_UTR_variant MELA-AU 11 5633152 5633152 single base substitution T A downstream_gene_variant MELA-AU 11 5633152 5633152 single base substitution T A exon_variant MELA-AU 11 5633390 5633390 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5633390 5633390 single base substitution C T downstream_gene_variant MELA-AU 11 5633390 5633390 single base substitution C T exon_variant MELA-AU 11 5634117 5634117 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5634117 5634117 single base substitution C T downstream_gene_variant MELA-AU 11 5634117 5634117 single base substitution C T exon_variant MELA-AU 11 5634118 5634118 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5634118 5634118 single base substitution C T downstream_gene_variant MELA-AU 11 5634118 5634118 single base substitution C T exon_variant MELA-AU 11 5635485 5635485 single base substitution T G downstream_gene_variant MELA-AU 11 5635495 5635495 single base substitution C T downstream_gene_variant MELA-AU 11 5636029 5636029 single base substitution T A downstream_gene_variant MELA-AU 11 5636217 5636217 single base substitution C T downstream_gene_variant MELA-AU 11 5636731 5636731 single base substitution A T downstream_gene_variant MELA-AU 11 5637204 5637204 single base substitution C T downstream_gene_variant MELA-AU 11 5637212 5637212 single base substitution G A downstream_gene_variant MELA-AU 11 5637417 5637417 single base substitution G C downstream_gene_variant MELA-AU 11 5637513 5637513 single base substitution C T downstream_gene_variant MELA-AU 11 5638421 5638421 single base substitution G A downstream_gene_variant MELA-AU 11 5638652 5638652 single base substitution G A downstream_gene_variant MELA-AU 11 5639054 5639054 single base substitution G A downstream_gene_variant MELA-AU 11 5639114 5639114 single base substitution G A downstream_gene_variant ORCA-IN 11 5625407 5625407 single base substitution C T intron_variant ORCA-IN 11 5625407 5625407 single base substitution C T upstream_gene_variant ORCA-IN 11 5636821 5636821 single base substitution G T downstream_gene_variant OV-AU 11 5612739 5612739 single base substitution G A upstream_gene_variant OV-AU 11 5617976 5617976 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 11 5617976 5617976 single base substitution G T 5_prime_UTR_variant OV-AU 11 5617976 5617976 single base substitution G T exon_variant OV-AU 11 5617976 5617976 single base substitution G T intron_variant OV-AU 11 5617976 5617976 single base substitution G T upstream_gene_variant OV-AU 11 5624230 5624230 single base substitution G A intron_variant OV-AU 11 5624230 5624230 single base substitution G A upstream_gene_variant OV-AU 11 5629602 5629602 single base substitution G T missense_variant D225Y 673G>T OV-AU 11 5629602 5629602 single base substitution G T missense_variant D251Y 751G>T OV-AU 11 5629602 5629602 single base substitution G T missense_variant D279Y 835G>T OV-AU 11 5629602 5629602 single base substitution G T missense_variant D76Y 226G>T OV-AU 11 5629602 5629602 single base substitution G T splice_region_variant OV-AU 11 5629812 5629812 single base substitution G C intron_variant OV-AU 11 5629946 5629946 single base substitution G A intron_variant OV-AU 11 5631218 5631218 single base substitution C G intron_variant OV-AU 11 5638944 5638944 single base substitution T G downstream_gene_variant PACA-AU 11 5613351 5613351 single base substitution A C upstream_gene_variant PACA-AU 11 5614089 5614089 single base substitution G T upstream_gene_variant PACA-AU 11 5615154 5615154 single base substitution T C upstream_gene_variant PACA-AU 11 5615324 5615324 single base substitution T C upstream_gene_variant PACA-AU 11 5620128 5620128 single base substitution G T intron_variant PACA-AU 11 5620979 5620979 single base substitution T G intron_variant PACA-AU 11 5625193 5625193 single base substitution G T intron_variant PACA-AU 11 5625193 5625193 single base substitution G T upstream_gene_variant PACA-AU 11 5627379 5627379 single base substitution G A intron_variant PACA-AU 11 5629265 5629265 single base substitution A G intron_variant PACA-AU 11 5632143 5632143 single base substitution C A downstream_gene_variant PACA-AU 11 5632143 5632143 single base substitution C A exon_variant PACA-AU 11 5632143 5632143 single base substitution C A synonymous_variant G171G 513C>A PACA-AU 11 5632143 5632143 single base substitution C A synonymous_variant G320G 960C>A PACA-AU 11 5632143 5632143 single base substitution C A synonymous_variant G346G 1038C>A PACA-AU 11 5632143 5632143 single base substitution C A synonymous_variant G374G 1122C>A PACA-CA 11 5614633 5614633 insertion of <=200bp - A upstream_gene_variant PACA-CA 11 5615284 5615284 single base substitution C T upstream_gene_variant PACA-CA 11 5623273 5623273 single base substitution C T intron_variant PACA-CA 11 5623273 5623273 single base substitution C T upstream_gene_variant PACA-CA 11 5626397 5626397 single base substitution A G intron_variant PACA-CA 11 5626397 5626397 single base substitution A G upstream_gene_variant PACA-CA 11 5627313 5627313 single base substitution G A intron_variant PACA-CA 11 5628028 5628028 single base substitution C T intron_variant PACA-CA 11 5628155 5628155 single base substitution C T intron_variant PACA-CA 11 5629805 5629805 single base substitution G T intron_variant PACA-CA 11 5631791 5631791 single base substitution G T downstream_gene_variant PACA-CA 11 5631791 5631791 single base substitution G T missense_variant V126F 376G>T PACA-CA 11 5631791 5631791 single base substitution G T missense_variant V275F 823G>T PACA-CA 11 5631791 5631791 single base substitution G T missense_variant V301F 901G>T PACA-CA 11 5631791 5631791 single base substitution G T missense_variant V329F 985G>T PACA-CA 11 5631791 5631791 single base substitution G T splice_region_variant PACA-CA 11 5635637 5635637 single base substitution G T downstream_gene_variant PACA-CA 11 5636814 5636814 single base substitution T G downstream_gene_variant PACA-CA 11 5637143 5637143 single base substitution T C downstream_gene_variant PAEN-AU 11 5625526 5625526 single base substitution G T intron_variant PAEN-AU 11 5625526 5625526 single base substitution G T upstream_gene_variant PAEN-AU 11 5626727 5626727 single base substitution C T exon_variant PAEN-AU 11 5626727 5626727 single base substitution C T intron_variant PAEN-AU 11 5626727 5626727 single base substitution C T missense_variant T201I 602C>T PAEN-AU 11 5626727 5626727 single base substitution C T missense_variant T227I 680C>T PAEN-AU 11 5626727 5626727 single base substitution C T missense_variant T255I 764C>T PAEN-AU 11 5626727 5626727 single base substitution C T missense_variant T52I 155C>T PAEN-AU 11 5626727 5626727 single base substitution C T upstream_gene_variant PAEN-AU 11 5631901 5631901 single base substitution G A downstream_gene_variant PAEN-AU 11 5631901 5631901 single base substitution G A intron_variant PBCA-DE 11 5625198 5625198 single base substitution G A intron_variant PBCA-DE 11 5625198 5625198 single base substitution G A upstream_gene_variant PBCA-DE 11 5639077 5639077 insertion of <=200bp - A downstream_gene_variant PRAD-CA 11 5630541 5630541 single base substitution T C intron_variant PRAD-UK 11 5614717 5614717 single base substitution G A upstream_gene_variant PRAD-UK 11 5615860 5615860 single base substitution T C upstream_gene_variant PRAD-UK 11 5622226 5622226 single base substitution C G intron_variant PRAD-UK 11 5622226 5622226 single base substitution C G upstream_gene_variant PRAD-UK 11 5630953 5630953 single base substitution C A intron_variant PRAD-US 11 5632424 5632424 single base substitution A G downstream_gene_variant PRAD-US 11 5632424 5632424 single base substitution A G exon_variant PRAD-US 11 5632424 5632424 single base substitution A G missense_variant E265G 794A>G PRAD-US 11 5632424 5632424 single base substitution A G missense_variant E414G 1241A>G PRAD-US 11 5632424 5632424 single base substitution A G missense_variant E440G 1319A>G PRAD-US 11 5632424 5632424 single base substitution A G missense_variant E468G 1403A>G PRAD-US 11 5632556 5632556 single base substitution G A downstream_gene_variant PRAD-US 11 5632556 5632556 single base substitution G A exon_variant PRAD-US 11 5632556 5632556 single base substitution G A missense_variant R309H 926G>A PRAD-US 11 5632556 5632556 single base substitution G A missense_variant R458H 1373G>A PRAD-US 11 5632556 5632556 single base substitution G A missense_variant R484H 1451G>A PRAD-US 11 5632556 5632556 single base substitution G A missense_variant R512H 1535G>A READ-US 11 5624952 5624952 single base substitution C T 5_prime_UTR_variant READ-US 11 5624952 5624952 single base substitution C T intron_variant READ-US 11 5624952 5624952 single base substitution C T missense_variant A111V 332C>T READ-US 11 5624952 5624952 single base substitution C T missense_variant A137V 410C>T READ-US 11 5624952 5624952 single base substitution C T missense_variant A165V 494C>T READ-US 11 5624952 5624952 single base substitution C T upstream_gene_variant READ-US 11 5626762 5626762 single base substitution C T exon_variant READ-US 11 5626762 5626762 single base substitution C T intron_variant READ-US 11 5626762 5626762 single base substitution C T missense_variant R213C 637C>T READ-US 11 5626762 5626762 single base substitution C T missense_variant R239C 715C>T READ-US 11 5626762 5626762 single base substitution C T missense_variant R267C 799C>T READ-US 11 5626762 5626762 single base substitution C T missense_variant R64C 190C>T READ-US 11 5626762 5626762 single base substitution C T upstream_gene_variant RECA-EU 11 5636815 5636815 single base substitution T G downstream_gene_variant SKCA-BR 11 5613125 5613125 single base substitution C A upstream_gene_variant SKCA-BR 11 5614161 5614161 single base substitution G A upstream_gene_variant SKCA-BR 11 5614168 5614168 single base substitution G A upstream_gene_variant SKCA-BR 11 5616067 5616067 single base substitution T G upstream_gene_variant SKCA-BR 11 5617316 5617316 single base substitution C T upstream_gene_variant SKCA-BR 11 5619696 5619696 single base substitution A G intron_variant SKCA-BR 11 5623278 5623278 single base substitution T C intron_variant SKCA-BR 11 5623278 5623278 single base substitution T C upstream_gene_variant SKCA-BR 11 5623485 5623485 single base substitution A T intron_variant SKCA-BR 11 5623485 5623485 single base substitution A T upstream_gene_variant SKCA-BR 11 5623748 5623748 single base substitution G C intron_variant SKCA-BR 11 5623748 5623748 single base substitution G C upstream_gene_variant SKCA-BR 11 5624241 5624241 single base substitution C T intron_variant SKCA-BR 11 5624241 5624241 single base substitution C T upstream_gene_variant SKCA-BR 11 5625564 5625564 single base substitution G A intron_variant SKCA-BR 11 5625564 5625564 single base substitution G A upstream_gene_variant SKCA-BR 11 5626045 5626045 single base substitution C T intron_variant SKCA-BR 11 5626045 5626045 single base substitution C T upstream_gene_variant SKCA-BR 11 5626068 5626068 single base substitution C T intron_variant SKCA-BR 11 5626068 5626068 single base substitution C T upstream_gene_variant SKCA-BR 11 5627054 5627054 single base substitution T A intron_variant SKCA-BR 11 5627968 5627968 single base substitution G A intron_variant SKCA-BR 11 5628072 5628072 single base substitution G A intron_variant SKCA-BR 11 5628734 5628734 single base substitution T G intron_variant SKCA-BR 11 5629325 5629325 single base substitution A G intron_variant SKCA-BR 11 5630065 5630065 single base substitution C T intron_variant SKCA-BR 11 5634831 5634831 single base substitution G A downstream_gene_variant SKCA-BR 11 5636399 5636399 single base substitution G C downstream_gene_variant SKCA-BR 11 5637165 5637165 single base substitution T C downstream_gene_variant SKCA-BR 11 5637306 5637306 single base substitution G C downstream_gene_variant SKCA-BR 11 5638050 5638050 single base substitution A G downstream_gene_variant SKCA-BR 11 5638716 5638717 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 11 5639003 5639003 single base substitution G A downstream_gene_variant SKCA-BR 11 5639011 5639011 single base substitution C T downstream_gene_variant SKCM-US 11 5624743 5624743 single base substitution C G intron_variant SKCM-US 11 5624743 5624743 single base substitution C G missense_variant N67K 201C>G SKCM-US 11 5624743 5624743 single base substitution C G missense_variant N95K 285C>G SKCM-US 11 5624743 5624743 single base substitution C G upstream_gene_variant SKCM-US 11 5624860 5624860 single base substitution C T 5_prime_UTR_variant SKCM-US 11 5624860 5624860 single base substitution C T intron_variant SKCM-US 11 5624860 5624860 single base substitution C T synonymous_variant L106L 318C>T SKCM-US 11 5624860 5624860 single base substitution C T synonymous_variant L134L 402C>T SKCM-US 11 5624860 5624860 single base substitution C T upstream_gene_variant SKCM-US 11 5625835 5625835 single base substitution C T 5_prime_UTR_variant SKCM-US 11 5625835 5625835 single base substitution C T intron_variant SKCM-US 11 5625835 5625835 single base substitution C T synonymous_variant I139I 417C>T SKCM-US 11 5625835 5625835 single base substitution C T synonymous_variant I165I 495C>T SKCM-US 11 5625835 5625835 single base substitution C T synonymous_variant I193I 579C>T SKCM-US 11 5625835 5625835 single base substitution C T upstream_gene_variant SKCM-US 11 5626584 5626584 single base substitution G A exon_variant SKCM-US 11 5626584 5626584 single base substitution G A intron_variant SKCM-US 11 5626584 5626584 single base substitution G A synonymous_variant E153E 459G>A SKCM-US 11 5626584 5626584 single base substitution G A synonymous_variant E179E 537G>A SKCM-US 11 5626584 5626584 single base substitution G A synonymous_variant E207E 621G>A SKCM-US 11 5626584 5626584 single base substitution G A synonymous_variant E4E 12G>A SKCM-US 11 5626584 5626584 single base substitution G A upstream_gene_variant SKCM-US 11 5626672 5626672 single base substitution G A exon_variant SKCM-US 11 5626672 5626672 single base substitution G A intron_variant SKCM-US 11 5626672 5626672 single base substitution G A missense_variant E183K 547G>A SKCM-US 11 5626672 5626672 single base substitution G A missense_variant E209K 625G>A SKCM-US 11 5626672 5626672 single base substitution G A missense_variant E237K 709G>A SKCM-US 11 5626672 5626672 single base substitution G A missense_variant E34K 100G>A SKCM-US 11 5626672 5626672 single base substitution G A upstream_gene_variant SKCM-US 11 5626711 5626711 single base substitution G A exon_variant SKCM-US 11 5626711 5626711 single base substitution G A intron_variant SKCM-US 11 5626711 5626711 single base substitution G A missense_variant D196N 586G>A SKCM-US 11 5626711 5626711 single base substitution G A missense_variant D222N 664G>A SKCM-US 11 5626711 5626711 single base substitution G A missense_variant D250N 748G>A SKCM-US 11 5626711 5626711 single base substitution G A missense_variant D47N 139G>A SKCM-US 11 5626711 5626711 single base substitution G A upstream_gene_variant SKCM-US 11 5626743 5626743 single base substitution G A exon_variant SKCM-US 11 5626743 5626743 single base substitution G A intron_variant SKCM-US 11 5626743 5626743 single base substitution G A synonymous_variant E206E 618G>A SKCM-US 11 5626743 5626743 single base substitution G A synonymous_variant E232E 696G>A SKCM-US 11 5626743 5626743 single base substitution G A synonymous_variant E260E 780G>A SKCM-US 11 5626743 5626743 single base substitution G A synonymous_variant E57E 171G>A SKCM-US 11 5626743 5626743 single base substitution G A upstream_gene_variant SKCM-US 11 5626765 5626765 single base substitution C T exon_variant SKCM-US 11 5626765 5626765 single base substitution C T intron_variant SKCM-US 11 5626765 5626765 single base substitution C T stop_gained R214* 640C>T SKCM-US 11 5626765 5626765 single base substitution C T stop_gained R240* 718C>T SKCM-US 11 5626765 5626765 single base substitution C T stop_gained R268* 802C>T SKCM-US 11 5626765 5626765 single base substitution C T stop_gained R65* 193C>T SKCM-US 11 5626765 5626765 single base substitution C T upstream_gene_variant SKCM-US 11 5631789 5631789 single base substitution G A downstream_gene_variant SKCM-US 11 5631789 5631789 single base substitution G A splice_region_variant SKCM-US 11 5631789 5631789 single base substitution G A stop_gained W125* 374G>A SKCM-US 11 5631789 5631789 single base substitution G A stop_gained W274* 821G>A SKCM-US 11 5631789 5631789 single base substitution G A stop_gained W300* 899G>A SKCM-US 11 5631789 5631789 single base substitution G A stop_gained W328* 983G>A SKCM-US 11 5632103 5632103 single base substitution C T downstream_gene_variant SKCM-US 11 5632103 5632103 single base substitution C T exon_variant SKCM-US 11 5632103 5632103 single base substitution C T missense_variant P158L 473C>T SKCM-US 11 5632103 5632103 single base substitution C T missense_variant P307L 920C>T SKCM-US 11 5632103 5632103 single base substitution C T missense_variant P333L 998C>T SKCM-US 11 5632103 5632103 single base substitution C T missense_variant P361L 1082C>T SKCM-US 11 5632314 5632314 single base substitution G A downstream_gene_variant SKCM-US 11 5632314 5632314 single base substitution G A exon_variant SKCM-US 11 5632314 5632314 single base substitution G A synonymous_variant V228V 684G>A SKCM-US 11 5632314 5632314 single base substitution G A synonymous_variant V377V 1131G>A SKCM-US 11 5632314 5632314 single base substitution G A synonymous_variant V403V 1209G>A SKCM-US 11 5632314 5632314 single base substitution G A synonymous_variant V431V 1293G>A SKCM-US 11 5632384 5632384 single base substitution A C downstream_gene_variant SKCM-US 11 5632384 5632384 single base substitution A C exon_variant SKCM-US 11 5632384 5632384 single base substitution A C missense_variant T252P 754A>C SKCM-US 11 5632384 5632384 single base substitution A C missense_variant T401P 1201A>C SKCM-US 11 5632384 5632384 single base substitution A C missense_variant T427P 1279A>C SKCM-US 11 5632384 5632384 single base substitution A C missense_variant T455P 1363A>C STAD-US 11 5624742 5624742 single base substitution A C intron_variant STAD-US 11 5624742 5624742 single base substitution A C missense_variant N67T 200A>C STAD-US 11 5624742 5624742 single base substitution A C missense_variant N95T 284A>C STAD-US 11 5624742 5624742 single base substitution A C upstream_gene_variant STAD-US 11 5624748 5624748 single base substitution G A intron_variant STAD-US 11 5624748 5624748 single base substitution G A missense_variant R69Q 206G>A STAD-US 11 5624748 5624748 single base substitution G A missense_variant R97Q 290G>A STAD-US 11 5624748 5624748 single base substitution G A upstream_gene_variant STAD-US 11 5624861 5624861 single base substitution T C 5_prime_UTR_variant STAD-US 11 5624861 5624861 single base substitution T C intron_variant STAD-US 11 5624861 5624861 single base substitution T C missense_variant F107L 319T>C STAD-US 11 5624861 5624861 single base substitution T C missense_variant F135L 403T>C STAD-US 11 5624861 5624861 single base substitution T C upstream_gene_variant STAD-US 11 5624931 5624931 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 11 5624931 5624931 single base substitution C T intron_variant STAD-US 11 5624931 5624931 single base substitution C T missense_variant T104M 311C>T STAD-US 11 5624931 5624931 single base substitution C T missense_variant T130M 389C>T STAD-US 11 5624931 5624931 single base substitution C T missense_variant T158M 473C>T STAD-US 11 5624931 5624931 single base substitution C T upstream_gene_variant STAD-US 11 5624939 5624939 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 11 5624939 5624939 single base substitution G A intron_variant STAD-US 11 5624939 5624939 single base substitution G A missense_variant V107M 319G>A STAD-US 11 5624939 5624939 single base substitution G A missense_variant V133M 397G>A STAD-US 11 5624939 5624939 single base substitution G A missense_variant V161M 481G>A STAD-US 11 5624939 5624939 single base substitution G A upstream_gene_variant STAD-US 11 5625792 5625792 single base substitution T G 5_prime_UTR_variant STAD-US 11 5625792 5625792 single base substitution T G intron_variant STAD-US 11 5625792 5625792 single base substitution T G missense_variant L125R 374T>G STAD-US 11 5625792 5625792 single base substitution T G missense_variant L151R 452T>G STAD-US 11 5625792 5625792 single base substitution T G missense_variant L179R 536T>G STAD-US 11 5625792 5625792 single base substitution T G upstream_gene_variant STAD-US 11 5631384 5631384 single base substitution C A exon_variant STAD-US 11 5631384 5631384 single base substitution C A missense_variant F235L 705C>A STAD-US 11 5631384 5631384 single base substitution C A missense_variant F261L 783C>A STAD-US 11 5631384 5631384 single base substitution C A missense_variant F289L 867C>A STAD-US 11 5631384 5631384 single base substitution C A missense_variant F86L 258C>A STAD-US 11 5632278 5632278 single base substitution T G downstream_gene_variant STAD-US 11 5632278 5632278 single base substitution T G exon_variant STAD-US 11 5632278 5632278 single base substitution T G synonymous_variant A216A 648T>G STAD-US 11 5632278 5632278 single base substitution T G synonymous_variant A365A 1095T>G STAD-US 11 5632278 5632278 single base substitution T G synonymous_variant A391A 1173T>G STAD-US 11 5632278 5632278 single base substitution T G synonymous_variant A419A 1257T>G STAD-US 11 5632556 5632556 single base substitution G A downstream_gene_variant STAD-US 11 5632556 5632556 single base substitution G A exon_variant STAD-US 11 5632556 5632556 single base substitution G A missense_variant R309H 926G>A STAD-US 11 5632556 5632556 single base substitution G A missense_variant R458H 1373G>A STAD-US 11 5632556 5632556 single base substitution G A missense_variant R484H 1451G>A STAD-US 11 5632556 5632556 single base substitution G A missense_variant R512H 1535G>A THCA-SA 11 5632501 5632501 single base substitution A C downstream_gene_variant THCA-SA 11 5632501 5632501 single base substitution A C exon_variant THCA-SA 11 5632501 5632501 single base substitution A C missense_variant T291P 871A>C THCA-SA 11 5632501 5632501 single base substitution A C missense_variant T440P 1318A>C THCA-SA 11 5632501 5632501 single base substitution A C missense_variant T466P 1396A>C THCA-SA 11 5632501 5632501 single base substitution A C missense_variant T494P 1480A>C THCA-US 11 5624780 5624780 single base substitution C T intron_variant THCA-US 11 5624780 5624780 single base substitution C T missense_variant R108W 322C>T THCA-US 11 5624780 5624780 single base substitution C T missense_variant R80W 238C>T THCA-US 11 5624780 5624780 single base substitution C T upstream_gene_variant UCEC-US 11 5625799 5625799 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 11 5625799 5625799 single base substitution C T intron_variant UCEC-US 11 5625799 5625799 single base substitution C T synonymous_variant N127N 381C>T UCEC-US 11 5625799 5625799 single base substitution C T synonymous_variant N153N 459C>T UCEC-US 11 5625799 5625799 single base substitution C T synonymous_variant N181N 543C>T UCEC-US 11 5625799 5625799 single base substitution C T upstream_gene_variant UCEC-US 11 5626691 5626691 single base substitution T A exon_variant UCEC-US 11 5626691 5626691 single base substitution T A intron_variant UCEC-US 11 5626691 5626691 single base substitution T A missense_variant I189N 566T>A UCEC-US 11 5626691 5626691 single base substitution T A missense_variant I215N 644T>A UCEC-US 11 5626691 5626691 single base substitution T A missense_variant I243N 728T>A UCEC-US 11 5626691 5626691 single base substitution T A missense_variant I40N 119T>A UCEC-US 11 5626691 5626691 single base substitution T A upstream_gene_variant UCEC-US 11 5626739 5626739 single base substitution G A exon_variant UCEC-US 11 5626739 5626739 single base substitution G A intron_variant UCEC-US 11 5626739 5626739 single base substitution G A missense_variant R205Q 614G>A UCEC-US 11 5626739 5626739 single base substitution G A missense_variant R231Q 692G>A UCEC-US 11 5626739 5626739 single base substitution G A missense_variant R259Q 776G>A UCEC-US 11 5626739 5626739 single base substitution G A missense_variant R56Q 167G>A UCEC-US 11 5626739 5626739 single base substitution G A upstream_gene_variant UCEC-US 11 5626762 5626762 single base substitution C T exon_variant UCEC-US 11 5626762 5626762 single base substitution C T intron_variant UCEC-US 11 5626762 5626762 single base substitution C T missense_variant R213C 637C>T UCEC-US 11 5626762 5626762 single base substitution C T missense_variant R239C 715C>T UCEC-US 11 5626762 5626762 single base substitution C T missense_variant R267C 799C>T UCEC-US 11 5626762 5626762 single base substitution C T missense_variant R64C 190C>T UCEC-US 11 5626762 5626762 single base substitution C T upstream_gene_variant UCEC-US 11 5626774 5626774 single base substitution G A exon_variant UCEC-US 11 5626774 5626774 single base substitution G A intron_variant UCEC-US 11 5626774 5626774 single base substitution G A missense_variant G217R 649G>A UCEC-US 11 5626774 5626774 single base substitution G A missense_variant G243R 727G>A UCEC-US 11 5626774 5626774 single base substitution G A missense_variant G271R 811G>A UCEC-US 11 5626774 5626774 single base substitution G A missense_variant G68R 202G>A UCEC-US 11 5626774 5626774 single base substitution G A upstream_gene_variant UCEC-US 11 5631362 5631362 single base substitution C A intron_variant UCEC-US 11 5632396 5632396 single base substitution C T downstream_gene_variant UCEC-US 11 5632396 5632396 single base substitution C T exon_variant UCEC-US 11 5632396 5632396 single base substitution C T missense_variant R256C 766C>T UCEC-US 11 5632396 5632396 single base substitution C T missense_variant R405C 1213C>T UCEC-US 11 5632396 5632396 single base substitution C T missense_variant R431C 1291C>T UCEC-US 11 5632396 5632396 single base substitution C T missense_variant R459C 1375C>T UCEC-US 11 5632397 5632397 single base substitution G A downstream_gene_variant UCEC-US 11 5632397 5632397 single base substitution G A exon_variant UCEC-US 11 5632397 5632397 single base substitution G A missense_variant R256H 767G>A UCEC-US 11 5632397 5632397 single base substitution G A missense_variant R405H 1214G>A UCEC-US 11 5632397 5632397 single base substitution G A missense_variant R431H 1292G>A UCEC-US 11 5632397 5632397 single base substitution G A missense_variant R459H 1376G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC31 COSM1604745 c.123G>T p.V41V Substitution - coding silent 11:5603351-5603351 + TCGA-EE-A2A2-06 COSM3449453 c.285C>G p.N95K Substitution - Missense 11:5603513-5603513 + C008 COSM5524086 c.1189C>T p.L397L Substitution - coding silent 11:5610980-5610980 + ZZUFHECRKL-G026T COSM5435612 c.770C>T p.S257L Substitution - Missense 11:5605503-5605503 + TCGA-CD-8536-01 COSM4033923 c.481G>A p.V161M Substitution - Missense 11:5603709-5603709 + CSCC-37-T COSM4568886 c.1388T>C p.V463A Substitution - Missense 11:5611179-5611179 + TCGA-F5-6814-01 COSM3415984 c.494C>T p.A165V Substitution - Missense 11:5603722-5603722 + TCGA-B0-4713-01 COSM3359234 c.1192G>A p.G398R Substitution - Missense 11:5610983-5610983 + PT20_2 COSM5900780 c.956G>A p.R319K Substitution - Missense 11:5610243-5610243 + TCGA-HU-A4G8-01 COSM4033921 c.473C>T p.T158M Substitution - Missense 11:5603701-5603701 + TCGA-D8-A147-01 COSM429241 c.273C>G p.Y91* Substitution - Nonsense 11:5603501-5603501 + PD4956a COSM543120 c.446G>A p.R149Q Substitution - Missense 11:5603674-5603674 + TCGA-28-5209-01 COSM3747884 c.593C>A p.T198K Substitution - Missense 11:5604619-5604619 + LUAD-RT-S01832 COSM384591 c.255T>A p.P85P Substitution - coding silent 11:5603483-5603483 + TCGA-FW-A3R5-06 COSM3869495 c.780G>A p.E260E Substitution - coding silent 11:5605513-5605513 + SC_9058 COSM5557756 c.564G>C p.K188N Substitution - Missense 11:5604590-5604590 + TCGA-D1-A174-01 COSM928424 c.1118T>C p.L373P Substitution - Missense 11:5610909-5610909 + TCGA-EE-A3AA-06 COSM3449501 c.1293G>A p.V431V Substitution - coding silent 11:5611084-5611084 + Pat_58_B COSM4033921 c.473C>T p.T158M Substitution - Missense 11:5603701-5603701 + GC8_T COSM147122 c.840G>A p.V280V Substitution - coding silent 11:5608377-5608377 + TCGA-GN-A26C-01 COSM3449472 c.802C>T p.R268* Substitution - Nonsense 11:5605535-5605535 + B66 COSM1746329 c.1541C>A p.P514Q Substitution - Missense 11:5611332-5611332 + TCGA-AM-5820-01 COSM3752480 c.997C>A p.L333M Substitution - Missense 11:5610788-5610788 + TCGA-BR-4361-01 COSM4033917 c.290G>A p.R97Q Substitution - Missense 11:5603518-5603518 + I2L-P16-Tumor-Biopsy COSM4196521 c.1132T>G p.F378V Substitution - Missense 11:5610923-5610923 + CRC-19T COSM5480886 c.800G>A p.R267H Substitution - Missense 11:5605533-5605533 + TCGA-P5-A5F1-01 COSM3967617 c.74G>A p.R25K Substitution - Missense 11:5603302-5603302 + 8044832 COSM1158248 c.1122C>A p.G374G Substitution - coding silent 11:5610913-5610913 + TCGA-B5-A0JZ-01 COSM928397 c.601A>G p.K201E Substitution - Missense 11:5604627-5604627 + B66-Tumor COSM1746329 c.1541C>A p.P514Q Substitution - Missense 11:5611332-5611332 + PCSI_0504_Pa_P_526 COSM4806673 c.985G>T p.V329F Substitution - Missense 11:5610561-5610561 + I2L-P16-Tumor-Organoid COSM4196521 c.1132T>G p.F378V Substitution - Missense 11:5610923-5610923 + TCGA-AA-A010-01 COSM285952 c.799C>T p.R267C Substitution - Missense 11:5605532-5605532 + C086 COSM4196519 c.1093G>A p.E365K Substitution - Missense 11:5610884-5610884 + TCGA-EE-A3AA-06 COSM3449468 c.621G>A p.E207E Substitution - coding silent 11:5605354-5605354 + TCGA-B5-A0JY-01 COSM285952 c.799C>T p.R267C Substitution - Missense 11:5605532-5605532 + SNUH_G73_S1 COSM3998474 c.528A>G p.L176L Substitution - coding silent 11:5604554-5604554 + TCGA-AR-A254-01 COSM1475547 c.914T>A p.M305K Substitution - Missense 11:5610201-5610201 + TCGA-BS-A0UJ-01 COSM928405 c.811G>A p.G271R Substitution - Missense 11:5605544-5605544 + TCGA-AO-A12F-01 COSM429249 c.1378C>T p.R460C Substitution - Missense 11:5611169-5611169 + 631056 COSM326760 c.564G>T p.K188N Substitution - Missense 11:5604590-5604590 + 2492724 COSM5724917 c.284A>T p.N95I Substitution - Missense 11:5603512-5603512 + TCGA-EI-6882-01 COSM285952 c.799C>T p.R267C Substitution - Missense 11:5605532-5605532 + T3091 COSM4736180 c.1351C>A p.L451I Substitution - Missense 11:5611142-5611142 + pfg038T COSM4749192 c.722T>G p.L241R Substitution - Missense 11:5605455-5605455 + SNUH_G10_S1 COSM3752480 c.997C>A p.L333M Substitution - Missense 11:5610788-5610788 + TCGA-AP-A051-01 COSM285952 c.799C>T p.R267C Substitution - Missense 11:5605532-5605532 + TCGA-B5-A11Y-01 COSM928425 c.1375C>T p.R459C Substitution - Missense 11:5611166-5611166 + I2L-P19Tb-Tumor-Organoid COSM179229 c.655C>T p.R219* Substitution - Nonsense 11:5605388-5605388 + TCGA-AA-A00N-01 COSM277807 c.749A>G p.D250G Substitution - Missense 11:5605482-5605482 + TCGA-EB-A551-01 COSM3449502 c.1363A>C p.T455P Substitution - Missense 11:5611154-5611154 + TCGA-AZ-4615-01 COSM5139634 c.710_712delAGA p.K239delK Deletion - In frame 11:5605443-5605445 + PT08_1 COSM5893615 c.870G>A p.W290* Substitution - Nonsense 11:5610157-5610157 + TCGA-BR-8680-01 COSM4033942 c.867C>A p.F289L Substitution - Missense 11:5610154-5610154 + TCGA-EB-A3XD-01 COSM3449455 c.402C>T p.L134L Substitution - coding silent 11:5603630-5603630 + CSCC-6-T COSM4451626 c.1321A>G p.R441G Substitution - Missense 11:5611112-5611112 + AOCS-075-1-0 COSM3980418 c.835G>T p.D279Y Substitution - Missense 11:5608372-5608372 + TCGA-BP-4988-01 COSM466966 c.475T>G p.F159V Substitution - Missense 11:5603703-5603703 + 49M COSM5593589 c.683G>A p.R228Q Substitution - Missense 11:5605416-5605416 + CHC258T COSM3666942 c.1042C>T p.R348W Substitution - Missense 11:5610833-5610833 + SNUH_G10_S1 COSM3998474 c.528A>G p.L176L Substitution - coding silent 11:5604554-5604554 + TCGA-12-3649-01 COSM3397845 c.682C>T p.R228W Substitution - Missense 11:5605415-5605415 + 2492725 COSM5724917 c.284A>T p.N95I Substitution - Missense 11:5603512-5603512 + WA16 COSM242047 c.725G>A p.R242Q Substitution - Missense 11:5605458-5605458 + TCGA-CC-A7IK-01 COSM4924685 c.313A>G p.I105V Substitution - Missense 11:5603541-5603541 + TCGA-AP-A05N-01 COSM928401 c.728T>A p.I243N Substitution - Missense 11:5605461-5605461 + B89-12-Tumor COSM1746326 c.207A>C p.P69P Substitution - coding silent 11:5603435-5603435 + 2492726 COSM5724917 c.284A>T p.N95I Substitution - Missense 11:5603512-5603512 + 587222 COSM179233 c.1024C>A p.L342I Substitution - Missense 11:5610815-5610815 + TCGA-FW-A3R5-06 COSM3869493 c.748G>A p.D250N Substitution - Missense 11:5605481-5605481 + PT36 COSM5916134 c.1527G>A p.M509I Substitution - Missense 11:5611318-5611318 + CHC258T COSM3666942 c.1042C>T p.R348W Substitution - Missense 11:5610833-5610833 + SC_9008 COSM5558530 c.395T>C p.L132P Substitution - Missense 11:5603623-5603623 + 10-P083 COSM4574467 c.281_284delGGAA p.G94fs*11 Deletion - Frameshift 11:5603509-5603512 + 19685 COSM5346201 c.590A>C p.K197T Substitution - Missense 11:5604616-5604616 + HCC128T COSM5824427 c.808C>T p.Q270* Substitution - Nonsense 11:5605541-5605541 + TCGA-BH-A0BP-01 COSM429248 c.1283G>A p.G428E Substitution - Missense 11:5611074-5611074 + pfg064T COSM4749190 c.539A>C p.K180T Substitution - Missense 11:5604565-5604565 + TCGA-EL-A4K4-01 COSM3368425 c.322C>T p.R108W Substitution - Missense 11:5603550-5603550 + TCGA-A8-A0A6-01 COSM3809540 c.758A>C p.H253P Substitution - Missense 11:5605491-5605491 + TCGA-CA-6717-01 COSM179229 c.655C>T p.R219* Substitution - Nonsense 11:5605388-5605388 + TCGA-EJ-7125-01 COSM3670797 c.1062G>T p.V354V Substitution - coding silent 11:5610853-5610853 + CHC1594T COSM4805018 c.391A>C p.K131Q Substitution - Missense 11:5603619-5603619 + ESCC_92 COSM5637024 c.412G>A p.E138K Substitution - Missense 11:5603640-5603640 + BD124T COSM928390 c.543C>T p.N181N Substitution - coding silent 11:5604569-5604569 + TCGA-FS-A1ZZ-06 COSM3449470 c.709G>A p.E237K Substitution - Missense 11:5605442-5605442 + NB-0445 COSM1288629 c.1058T>C p.F353S Substitution - Missense 11:5610849-5610849 + TCGA-HU-A4H3-01 COSM4033943 c.1257T>G p.A419A Substitution - coding silent 11:5611048-5611048 + 1_RESISTANT COSM1720775 c.1062G>A p.V354V Substitution - coding silent 11:5610853-5610853 + TCGA-AP-A059-01 COSM928390 c.543C>T p.N181N Substitution - coding silent 11:5604569-5604569 + HCC31T COSM1604745 c.123G>T p.V41V Substitution - coding silent 11:5603351-5603351 + CHC1035T COSM3666940 c.258G>A p.V86V Substitution - coding silent 11:5603486-5603486 + GHE0988 COSM5714941 c.507G>A p.Q169Q Substitution - coding silent 11:5603735-5603735 + TCGA-AP-A056-01 COSM928403 c.776G>A p.R259Q Substitution - Missense 11:5605509-5605509 + TARGET-20-PAPXRJ-04A-02D COSM5487691 c.975A>G p.Q325Q Substitution - coding silent 11:5610551-5610551 + CHC1594T COSM4805018 c.391A>C p.K131Q Substitution - Missense 11:5603619-5603619 + B89-12 COSM1746326 c.207A>C p.P69P Substitution - coding silent 11:5603435-5603435 + PACA50 COSM1158248 c.1122C>A p.G374G Substitution - coding silent 11:5610913-5610913 + TCGA-EE-A17X-06 COSM3449460 c.579C>T p.I193I Substitution - coding silent 11:5604605-5604605 + 1_PRE-TREATMENT COSM1720775 c.1062G>A p.V354V Substitution - coding silent 11:5610853-5610853 + TCGA-DK-A1AC-01 COSM1298185 c.18G>A p.R6R Substitution - coding silent 11:5603246-5603246 + TCGA-BR-7958-01 COSM4033915 c.284A>C p.N95T Substitution - Missense 11:5603512-5603512 + sysucc-274T COSM5475535 c.959-5T>C p.? Unknown 11:5610530-5610530 + TCGA-12-3649-01 COSM3397851 c.889G>A p.A297T Substitution - Missense 11:5610176-5610176 + TCGA-AA-3715-01 COSM270397 c.1534C>T p.R512C Substitution - Missense 11:5611325-5611325 + TCGA-DK-A1AC-01 COSM1298187 c.402C>G p.L134L Substitution - coding silent 11:5603630-5603630 + LUAD-RT-S01774 COSM381316 c.449C>T p.S150F Substitution - Missense 11:5603677-5603677 + TCGA-AA-A010-01 COSM285950 c.1224C>A p.F408L Substitution - Missense 11:5611015-5611015 + TCGA-22-5492-01 COSM688503 c.1495T>C p.Y499H Substitution - Missense 11:5611286-5611286 + HCT116 COSM4196526 c.1345T>C p.S449P Substitution - Missense 11:5611136-5611136 + J90_T COSM3953390 c.135C>A p.I45I Substitution - coding silent 11:5603363-5603363 + I2L-P19Tb-Tumor-Biopsy COSM179229 c.655C>T p.R219* Substitution - Nonsense 11:5605388-5605388 + ESCC_35 COSM5628575 c.1276C>T p.Q426* Substitution - Nonsense 11:5611067-5611067 + TCGA-BR-8080-01 COSM4033919 c.403T>C p.F135L Substitution - Missense 11:5603631-5603631 + PT08_2 COSM5893615 c.870G>A p.W290* Substitution - Nonsense 11:5610157-5610157 + TCGA-43-5668-01 COSM688518 c.827T>A p.L276Q Substitution - Missense 11:5605560-5605560 + TCGA-C8-A12K-01 COSM429233 c.149T>A p.L50Q Substitution - Missense 11:5603377-5603377 + 587222 COSM1230375 c.388G>T p.E130* Substitution - Nonsense 11:5603616-5603616 + T3444 COSM4736179 c.164G>T p.S55I Substitution - Missense 11:5603392-5603392 + ESO-152 COSM1268565 c.1134C>A p.F378L Substitution - Missense 11:5610925-5610925 + TCGA-BR-6852-01 COSM3670798 c.1535G>A p.R512H Substitution - Missense 11:5611326-5611326 + TCGA-FS-A1ZK-06 COSM3449499 c.983G>A p.W328* Substitution - Nonsense 11:5610559-5610559 + 8051710 COSM4135686 c.764C>T p.T255I Substitution - Missense 11:5605497-5605497 + HCT-15 COSM1675780 c.169G>T p.D57Y Substitution - Missense 11:5603397-5603397 + TCGA-CK-5916-01 COSM5154363 c.508-2_508delAGG p.? Unknown 11:5604532-5604534 + TCGA-B0-5083-01 COSM1492582 c.706G>C p.E236Q Substitution - Missense 11:5605439-5605439 + CHC1035T COSM3666940 c.258G>A p.V86V Substitution - coding silent 11:5603486-5603486 + LUAD-S01346 COSM397424 c.1333G>A p.D445N Substitution - Missense 11:5611124-5611124 + TCGA-CG-5721-01 COSM4033925 c.536T>G p.L179R Substitution - Missense 11:5604562-5604562 + CSCC-41-T COSM4469243 c.158C>T p.P53L Substitution - Missense 11:5603386-5603386 + 7285 COSM5613401 c.892C>A p.L298I Substitution - Missense 11:5610179-5610179 + TCGA-EE-A180-06 COSM3449500 c.1082C>T p.P361L Substitution - Missense 11:5610873-5610873 + TCGA-AC-A23H-01 COSM3809549 c.1278G>C p.Q426H Substitution - Missense 11:5611069-5611069 + 3N02-VS-3T02 COSM4978414 c.1011A>C p.T337T Substitution - coding silent 11:5610802-5610802 + TCGA-AP-A0LM-01 COSM928426 c.1376G>A p.R459H Substitution - Missense 11:5611167-5611167 + TCGA-HC-7212-01 COSM3670798 c.1535G>A p.R512H Substitution - Missense 11:5611326-5611326 + TCGA-CH-5763-01 COSM1127746 c.1403A>G p.E468G Substitution - Missense 11:5611194-5611194 + TCGA-AO-A0J3-01 COSM429231 c.39C>G p.I13M Substitution - Missense 11:5603267-5603267 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.729048 11p15.4 607564

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC - Frameshift p.D57Vfs*42 c.170_171delAC 11 5624628 BRCA A G Missense p.E468G c.1403A>G 11 5632424 PRAD A G Missense p.K231E c.691A>G 11 5626654 CM A T Missense p.Q9L c.26A>T 11 5624484 HNSC C A Missense p.F378L c.1134C>A 11 5632155 ESCA C A Missense p.L298I c.892C>A 11 5631409 NSCLC C A Missense p.T198K c.593C>A 11 5625849 GBM C G Missense p.I13M c.39C>G 11 5624497 BRCA C G Missense p.N95K c.285C>G 11 5624743 CM C G Nonsense p.Y91* c.273C>G 11 5624731 BRCA C T Missense p.P361L c.1082C>T 11 5632103 CM C T Missense p.P493L c.1478C>T 11 5632499 CM C T Missense p.R228W c.682C>T 11 5626645 GBM C T Missense p.R459C c.1375C>T 11 5632396 UCEC C T Missense p.R460C c.1378C>T 11 5632399 BRCA C T Missense p.T393I c.1178C>T 11 5632199 CM C T Nonsense p.Q88* c.262C>T 11 5624720 STAD C T Nonsense p.R268* c.802C>T 11 5626765 CM G A Missense p.A297T c.889G>A 11 5631406 GBM G A Missense p.E237K c.709G>A 11 5626672 CM G A Missense p.G398R c.1192G>A 11 5632213 RCCC G A Missense p.G428E c.1283G>A 11 5632304 BRCA G A Missense p.R149Q c.446G>A 11 5624904 LUAD G A Missense p.R512H c.1535G>A 11 5632556 PRAD G A Missense p.R512H c.1535G>A 11 5632556 STAD G A Nonsense p.W328* c.983G>A 11 5631789 CM GG AA Missense p.G355R c.1062_1063delinsAA 11 5632083 CM GGA - InFrameDeletion p.E163delE c.488_490delAGG 11 5624941 RCCC G T Missense p.K188N c.564G>T 11 5625820 SCLC G T SpliceAcceptorSNV . c.18-1G>T 11 5624475 STAD T A Missense p.I243N c.728T>A 11 5626691 UCEC T A Missense p.L276Q c.827T>A 11 5626790 LUSC T A Missense p.L50Q c.149T>A 11 5624607 BRCA T A Missense p.M305K c.914T>A 11 5631431 BRCA T C Missense p.F353S c.1058T>C 11 5632079 NB T C Missense p.Y499H c.1495T>C 11 5632516 LUSC T G Missense p.F159V c.475T>G 11 5624933 RCCC