Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 58940200 58940200 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr11:58940200G>A c.132G>A c.(130-132)gtG>gtA p.V44V BLCA 11 58956663 58956663 + Silent SNP G G A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr11:58956663G>A c.1026G>A c.(1024-1026)gcG>gcA p.A342A BLCA 11 58956681 58956681 + Silent SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr11:58956681C>T c.1044C>T c.(1042-1044)ctC>ctT p.L348L BLCA 11 58962721 58962721 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr11:58962721G>C c.1415G>C c.(1414-1416)gGg>gCg p.G472A BLCA 11 58972187 58972187 + Silent SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr11:58972187C>T c.1665C>T c.(1663-1665)ctC>ctT p.L555L BLCA 11 58972306 58972306 + Missense_Mutation SNP A A G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr11:58972306A>G c.1784A>G c.(1783-1785)aAt>aGt p.N595S BLCA 11 58972353 58972353 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr11:58972353G>A c.1831G>A c.(1831-1833)Gag>Aag p.E611K BRCA 11 58949292 58949292 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 g.chr11:58949292G>A c.292G>A c.(292-294)Gac>Aac p.D98N BRCA 11 58949648 58949648 + Silent SNP G G A TCGA-BH-A18J-01A-11D-A12B-09 TCGA-BH-A18J-11A-31D-A12B-09 g.chr11:58949648G>A c.648G>A c.(646-648)gtG>gtA p.V216V BRCA 11 58949804 58949804 + Silent SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr11:58949804G>T c.804G>T c.(802-804)ggG>ggT p.G268G BRCA 11 58972164 58972164 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr11:58972164C>T c.1642C>T c.(1642-1644)Ctc>Ttc p.L548F CESC 11 58956669 58956669 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 g.chr11:58956669G>A c.1032G>A c.(1030-1032)ctG>ctA p.L344L CESC 11 58962710 58962710 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr11:58962710G>T c.1404G>T c.(1402-1404)aaG>aaT p.K468N COAD 11 58949629 58949629 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr11:58949629G>T c.629G>T c.(628-630)gGg>gTg p.G210V COAD 11 58956718 58956718 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:58956718G>A c.1081G>A c.(1081-1083)Gtc>Atc p.V361I COAD 11 58958592 58958592 + Missense_Mutation SNP A A C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr11:58958592A>C c.1165A>C c.(1165-1167)Acc>Ccc p.T389P COAD 11 58958609 58958609 + Frame_Shift_Del DEL A A - TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr11:58958609delA c.1182delA c.(1180-1182)ctafs p.L394fs COAD 11 58959578 58959578 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:58959578C>T c.1229C>T c.(1228-1230)aCc>aTc p.T410I COAD 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-AA-3986-01A-02W-0995-10 TCGA-AA-3986-10A-01W-0999-10 g.chr11:58972233G>A c.1711G>A c.(1711-1713)Gtc>Atc p.V571I COADREAD 11 58949629 58949629 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr11:58949629G>T c.629G>T c.(628-630)gGg>gTg p.G210V COADREAD 11 58956718 58956718 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:58956718G>A c.1081G>A c.(1081-1083)Gtc>Atc p.V361I COADREAD 11 58958592 58958592 + Missense_Mutation SNP A A C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr11:58958592A>C c.1165A>C c.(1165-1167)Acc>Ccc p.T389P COADREAD 11 58958609 58958609 + Frame_Shift_Del DEL A A - TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr11:58958609delA c.1182delA c.(1180-1182)ctafs p.L394fs COADREAD 11 58959578 58959578 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:58959578C>T c.1229C>T c.(1228-1230)aCc>aTc p.T410I COADREAD 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-AA-3986-01A-02W-0995-10 TCGA-AA-3986-10A-01W-0999-10 g.chr11:58972233G>A c.1711G>A c.(1711-1713)Gtc>Atc p.V571I DLBC 11 58949852 58949852 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:58949852C>T c.852C>T c.(850-852)acC>acT p.T284T ESCA 11 58949853 58949853 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr11:58949853G>A c.853G>A c.(853-855)Gga>Aga p.G285R ESCA 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr11:58972233G>A c.1711G>A c.(1711-1713)Gtc>Atc p.V571I GBM 11 58949764 58949764 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr11:58949764C>T c.764C>T c.(763-765)tCg>tTg p.S255L GBM 11 58949878 58949878 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 g.chr11:58949878A>G c.878A>G c.(877-879)aAt>aGt p.N293S GBMLGG 11 58949764 58949764 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr11:58949764C>T c.764C>T c.(763-765)tCg>tTg p.S255L GBMLGG 11 58949878 58949878 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 g.chr11:58949878A>G c.878A>G c.(877-879)aAt>aGt p.N293S GBMLGG 11 58962747 58962747 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:58962747G>T c.1441G>T c.(1441-1443)Ggg>Tgg p.G481W GBMLGG 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chr11:58972233G>A c.1711G>A c.(1711-1713)Gtc>Atc p.V571I HNSC 11 58940169 58940169 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr11:58940169T>A c.101T>A c.(100-102)gTc>gAc p.V34D HNSC 11 58949291 58949291 + Silent SNP C C T TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr11:58949291C>T c.291C>T c.(289-291)aaC>aaT p.N97N HNSC 11 58949498 58949498 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr11:58949498G>A c.498G>A c.(496-498)ggG>ggA p.G166G HNSC 11 58956681 58956681 + Silent SNP C C T TCGA-CN-A49A-01A-11D-A24D-08 TCGA-CN-A49A-10A-01D-A24F-08 g.chr11:58956681C>T c.1044C>T c.(1042-1044)ctC>ctT p.L348L HNSC 11 58956686 58956686 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr11:58956686G>T c.1049G>T c.(1048-1050)aGg>aTg p.R350M HNSC 11 58956754 58956755 + Frame_Shift_Ins INS - - C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr11:58956754_58956755insC c.1117_1118insC c.(1117-1119)tccfs p.S373fs HNSC 11 58972245 58972245 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr11:58972245G>A c.1723G>A c.(1723-1725)Gag>Aag p.E575K HNSC 11 58972335 58972335 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr11:58972335G>A c.1813G>A c.(1813-1815)Gct>Act p.A605T KIPAN 11 58949292 58949292 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr11:58949292G>A c.292G>A c.(292-294)Gac>Aac p.D98N KIRC 11 58949292 58949292 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr11:58949292G>A c.292G>A c.(292-294)Gac>Aac p.D98N LAML 11 58949357 58949357 + Silent SNP G G A TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 g.chr11:58949357G>A c.357G>A c.(355-357)aaG>aaA p.K119K LGG 11 58962747 58962747 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:58962747G>T c.1441G>T c.(1441-1443)Ggg>Tgg p.G481W LGG 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chr11:58972233G>A c.1711G>A c.(1711-1713)Gtc>Atc p.V571I LIHC 11 58940270 58940270 + Missense_Mutation SNP C C G TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr11:58940270C>G c.202C>G c.(202-204)Caa>Gaa p.Q68E LIHC 11 58949569 58949569 + Missense_Mutation SNP C C T TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr11:58949569C>T c.569C>T c.(568-570)tCc>tTc p.S190F LUAD 11 58949495 58949495 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr11:58949495A>T c.495A>T c.(493-495)acA>acT p.T165T LUAD 11 58949516 58949516 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr11:58949516G>T c.516G>T c.(514-516)caG>caT p.Q172H LUAD 11 58949675 58949675 + Silent SNP A A C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr11:58949675A>C c.675A>C c.(673-675)ggA>ggC p.G225G LUAD 11 58972195 58972195 + Missense_Mutation SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr11:58972195C>A c.1673C>A c.(1672-1674)gCc>gAc p.A558D LUAD 11 58972340 58972340 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr11:58972340C>A c.1818C>A c.(1816-1818)gcC>gcA p.A606A LUSC 11 58949569 58949569 + Missense_Mutation SNP C C T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr11:58949569C>T c.569C>T c.(568-570)tCc>tTc p.S190F LUSC 11 58972187 58972187 + Silent SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr11:58972187C>G c.1665C>G c.(1663-1665)ctC>ctG p.L555L LUSC 11 58972338 58972338 + Missense_Mutation SNP G G C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr11:58972338G>C c.1816G>C c.(1816-1818)Gcc>Ccc p.A606P OV 11 58949292 58949292 + Missense_Mutation SNP G G A TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 g.chr11:58949292G>A c.292G>A c.(292-294)Gac>Aac p.D98N OV 11 58949652 58949652 + Missense_Mutation SNP C C G TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr11:58949652C>G c.652C>G c.(652-654)Cgc>Ggc p.R218G PAAD 11 58949753 58949753 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:58949753G>A c.753G>A c.(751-753)aaG>aaA p.K251K PCPG 11 58959666 58959666 + Silent SNP A A G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 g.chr11:58959666A>G c.1317A>G c.(1315-1317)agA>agG p.R439R PRAD 11 58958631 58958631 + Missense_Mutation SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 g.chr11:58958631C>T c.1204C>T c.(1204-1206)Cgg>Tgg p.R402W PRAD 11 58959580 58959580 + Missense_Mutation SNP A A G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 g.chr11:58959580A>G c.1231A>G c.(1231-1233)Atc>Gtc p.I411V SARC 11 58956718 58956718 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chr11:58956718G>A c.1081G>A c.(1081-1083)Gtc>Atc p.V361I SKCM 11 58949292 58949292 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr11:58949292G>C c.292G>C c.(292-294)Gac>Cac p.D98H SKCM 11 58949302 58949302 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr11:58949302C>T c.302C>T c.(301-303)tCc>tTc p.S101F SKCM 11 58949400 58949400 + Missense_Mutation SNP G G A TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr11:58949400G>A c.400G>A c.(400-402)Gta>Ata p.V134I SKCM 11 58962828 58962828 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr11:58962828C>T c.1522C>T c.(1522-1524)Ccc>Tcc p.P508S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 58940200 58940200 single base substitution G A intron_variant BLCA-US 11 58940200 58940200 single base substitution G A synonymous_variant V44V 132G>A BLCA-US 11 58962721 58962721 single base substitution G C downstream_gene_variant BLCA-US 11 58962721 58962721 single base substitution G C exon_variant BLCA-US 11 58962721 58962721 single base substitution G C missense_variant G366A 1097G>C BLCA-US 11 58962721 58962721 single base substitution G C missense_variant G472A 1415G>C BLCA-US 11 58978821 58978821 single base substitution G C downstream_gene_variant BLCA-US 11 58979792 58979792 single base substitution C G downstream_gene_variant BLCA-US 11 58980208 58980208 single base substitution T C downstream_gene_variant BOCA-FR 11 58965641 58965641 single base substitution T G intron_variant BRCA-EU 11 58935480 58935480 single base substitution C A upstream_gene_variant BRCA-EU 11 58937201 58937201 single base substitution A G upstream_gene_variant BRCA-EU 11 58938216 58938216 single base substitution G T upstream_gene_variant BRCA-EU 11 58938637 58938637 single base substitution T G upstream_gene_variant BRCA-EU 11 58940587 58940587 single base substitution T A intron_variant BRCA-EU 11 58940923 58940923 single base substitution G A intron_variant BRCA-EU 11 58941321 58941321 single base substitution G C intron_variant BRCA-EU 11 58943118 58943118 single base substitution C T intron_variant BRCA-EU 11 58943264 58943264 single base substitution G A intron_variant BRCA-EU 11 58944047 58944047 single base substitution G A intron_variant BRCA-EU 11 58945989 58945989 single base substitution G A intron_variant BRCA-EU 11 58946433 58946433 single base substitution G C intron_variant BRCA-EU 11 58947581 58947581 single base substitution C T intron_variant BRCA-EU 11 58948490 58948490 single base substitution C G intron_variant BRCA-EU 11 58948490 58948490 single base substitution C G upstream_gene_variant BRCA-EU 11 58949643 58949643 single base substitution C T missense_variant P109S 325C>T BRCA-EU 11 58949643 58949643 single base substitution C T missense_variant P215S 643C>T BRCA-EU 11 58949643 58949643 single base substitution C T upstream_gene_variant BRCA-EU 11 58950138 58950138 single base substitution G A intron_variant BRCA-EU 11 58950138 58950138 single base substitution G A upstream_gene_variant BRCA-EU 11 58952114 58952114 single base substitution G A intron_variant BRCA-EU 11 58952114 58952114 single base substitution G A upstream_gene_variant BRCA-EU 11 58953910 58953910 single base substitution G C intron_variant BRCA-EU 11 58954396 58954396 single base substitution G T intron_variant BRCA-EU 11 58955419 58955419 single base substitution A G intron_variant BRCA-EU 11 58956326 58956326 single base substitution A T intron_variant BRCA-EU 11 58958991 58958991 single base substitution G A intron_variant BRCA-EU 11 58958991 58958991 single base substitution G A upstream_gene_variant BRCA-EU 11 58962276 58962276 single base substitution G T downstream_gene_variant BRCA-EU 11 58962276 58962276 single base substitution G T intron_variant BRCA-EU 11 58962276 58962276 single base substitution G T upstream_gene_variant BRCA-EU 11 58966620 58966620 single base substitution G A intron_variant BRCA-EU 11 58969626 58969626 single base substitution G C intron_variant BRCA-EU 11 58969815 58969835 deletion of <=200bp TTGGCTTCATGTCTTGAAGTC - intron_variant BRCA-EU 11 58972844 58972844 single base substitution T A 3_prime_UTR_variant BRCA-EU 11 58972844 58972844 single base substitution T A downstream_gene_variant BRCA-EU 11 58973137 58973137 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 58973137 58973137 single base substitution C T downstream_gene_variant BRCA-EU 11 58973543 58973543 single base substitution C A 3_prime_UTR_variant BRCA-EU 11 58973543 58973543 single base substitution C A downstream_gene_variant BRCA-EU 11 58974718 58974718 single base substitution C A 3_prime_UTR_variant BRCA-EU 11 58974718 58974718 single base substitution C A downstream_gene_variant BRCA-EU 11 58975422 58975422 single base substitution A G 3_prime_UTR_variant BRCA-EU 11 58975422 58975422 single base substitution A G downstream_gene_variant BRCA-EU 11 58975696 58975696 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 58975696 58975696 single base substitution C G downstream_gene_variant BRCA-EU 11 58976751 58976751 single base substitution C G downstream_gene_variant BRCA-EU 11 58977138 58977138 single base substitution G C downstream_gene_variant BRCA-EU 11 58977987 58977987 single base substitution T A downstream_gene_variant BRCA-EU 11 58979231 58979231 single base substitution C T downstream_gene_variant BRCA-EU 11 58979243 58979243 single base substitution C G downstream_gene_variant BRCA-EU 11 58979598 58979598 single base substitution G A downstream_gene_variant BRCA-EU 11 58980309 58980309 single base substitution G T downstream_gene_variant BRCA-FR 11 58944047 58944047 single base substitution G A intron_variant BRCA-FR 11 58946433 58946433 single base substitution G C intron_variant BRCA-FR 11 58955419 58955419 single base substitution A G intron_variant BRCA-FR 11 58957860 58957860 single base substitution C T intron_variant BRCA-FR 11 58957860 58957860 single base substitution C T upstream_gene_variant BRCA-FR 11 58964149 58964149 single base substitution G T downstream_gene_variant BRCA-FR 11 58964149 58964149 single base substitution G T intron_variant BRCA-FR 11 58977987 58977987 single base substitution T A downstream_gene_variant BRCA-KR 11 58949657 58949657 single base substitution G C missense_variant K113N 339G>C BRCA-KR 11 58949657 58949657 single base substitution G C missense_variant K219N 657G>C BRCA-KR 11 58949657 58949657 single base substitution G C upstream_gene_variant BRCA-UK 11 58957788 58957788 single base substitution G A intron_variant BRCA-UK 11 58957788 58957788 single base substitution G A upstream_gene_variant BRCA-UK 11 58967980 58967980 single base substitution C T intron_variant BRCA-UK 11 58970462 58970462 single base substitution G A intron_variant BRCA-UK 11 58979273 58979273 single base substitution G C downstream_gene_variant BRCA-US 11 58949292 58949292 single base substitution G A 5_prime_UTR_variant BRCA-US 11 58949292 58949292 single base substitution G A missense_variant D98N 292G>A BRCA-US 11 58949292 58949292 single base substitution G A upstream_gene_variant BRCA-US 11 58949648 58949648 single base substitution G A synonymous_variant V110V 330G>A BRCA-US 11 58949648 58949648 single base substitution G A synonymous_variant V216V 648G>A BRCA-US 11 58949648 58949648 single base substitution G A upstream_gene_variant BRCA-US 11 58949804 58949804 single base substitution G T synonymous_variant G162G 486G>T BRCA-US 11 58949804 58949804 single base substitution G T synonymous_variant G268G 804G>T BRCA-US 11 58949804 58949804 single base substitution G T upstream_gene_variant BRCA-US 11 58972164 58972164 single base substitution C T exon_variant BRCA-US 11 58972164 58972164 single base substitution C T missense_variant L442F 1324C>T BRCA-US 11 58972164 58972164 single base substitution C T missense_variant L548F 1642C>T BRCA-US 11 58978653 58978653 single base substitution G A downstream_gene_variant BRCA-US 11 58979086 58979086 single base substitution G A downstream_gene_variant BRCA-US 11 58979275 58979275 single base substitution G A downstream_gene_variant BRCA-US 11 58979531 58979531 single base substitution G A downstream_gene_variant BRCA-US 11 58979628 58979628 single base substitution G A downstream_gene_variant BRCA-US 11 58979700 58979700 single base substitution A G downstream_gene_variant BRCA-US 11 58980260 58980260 single base substitution C A downstream_gene_variant BTCA-JP 11 58958609 58958609 deletion of <=200bp A - exon_variant BTCA-JP 11 58958609 58958609 deletion of <=200bp A - frameshift_variant L288 BTCA-JP 11 58958609 58958609 deletion of <=200bp A - frameshift_variant L394 BTCA-JP 11 58958609 58958609 deletion of <=200bp A - upstream_gene_variant BTCA-JP 11 58962827 58962827 deletion of <=200bp C - downstream_gene_variant BTCA-JP 11 58962827 58962827 deletion of <=200bp C - exon_variant BTCA-JP 11 58962827 58962827 deletion of <=200bp C - frameshift_variant I401 BTCA-JP 11 58962827 58962827 deletion of <=200bp C - frameshift_variant I507 BTCA-JP 11 58972224 58972224 single base substitution T C exon_variant BTCA-JP 11 58972224 58972224 single base substitution T C missense_variant S462P 1384T>C BTCA-JP 11 58972224 58972224 single base substitution T C missense_variant S568P 1702T>C BTCA-JP 11 58972232 58972232 single base substitution C T downstream_gene_variant BTCA-JP 11 58972232 58972232 single base substitution C T synonymous_variant T464T 1392C>T BTCA-JP 11 58972232 58972232 single base substitution C T synonymous_variant T570T 1710C>T BTCA-JP 11 58972242 58972242 single base substitution A C downstream_gene_variant BTCA-JP 11 58972242 58972242 single base substitution A C missense_variant N468H 1402A>C BTCA-JP 11 58972242 58972242 single base substitution A C missense_variant N574H 1720A>C BTCA-JP 11 58978423 58978423 single base substitution C T downstream_gene_variant BTCA-JP 11 58979744 58979744 single base substitution G T downstream_gene_variant CESC-US 11 58956669 58956669 single base substitution G A exon_variant CESC-US 11 58956669 58956669 single base substitution G A synonymous_variant L238L 714G>A CESC-US 11 58956669 58956669 single base substitution G A synonymous_variant L344L 1032G>A CESC-US 11 58962710 58962710 single base substitution G T downstream_gene_variant CESC-US 11 58962710 58962710 single base substitution G T exon_variant CESC-US 11 58962710 58962710 single base substitution G T missense_variant K362N 1086G>T CESC-US 11 58962710 58962710 single base substitution G T missense_variant K468N 1404G>T CESC-US 11 58979797 58979797 single base substitution C T downstream_gene_variant CESC-US 11 58980271 58980271 single base substitution G A downstream_gene_variant CLLE-ES 11 58955652 58955652 single base substitution T G intron_variant CLLE-ES 11 58971607 58971607 single base substitution G A intron_variant CLLE-ES 11 58975461 58975461 single base substitution C T 3_prime_UTR_variant CLLE-ES 11 58975461 58975461 single base substitution C T downstream_gene_variant CLLE-ES 11 58978741 58978741 single base substitution C T downstream_gene_variant COAD-US 11 58949629 58949629 single base substitution G T missense_variant G104V 311G>T COAD-US 11 58949629 58949629 single base substitution G T missense_variant G210V 629G>T COAD-US 11 58949629 58949629 single base substitution G T upstream_gene_variant COAD-US 11 58956718 58956718 single base substitution G A exon_variant COAD-US 11 58956718 58956718 single base substitution G A missense_variant V255I 763G>A COAD-US 11 58956718 58956718 single base substitution G A missense_variant V361I 1081G>A COAD-US 11 58958592 58958592 single base substitution A C exon_variant COAD-US 11 58958592 58958592 single base substitution A C missense_variant T283P 847A>C COAD-US 11 58958592 58958592 single base substitution A C missense_variant T389P 1165A>C COAD-US 11 58958592 58958592 single base substitution A C upstream_gene_variant COAD-US 11 58958609 58958609 deletion of <=200bp A - exon_variant COAD-US 11 58958609 58958609 deletion of <=200bp A - frameshift_variant L288 COAD-US 11 58958609 58958609 deletion of <=200bp A - frameshift_variant L394 COAD-US 11 58958609 58958609 deletion of <=200bp A - upstream_gene_variant COAD-US 11 58962827 58962827 deletion of <=200bp C - downstream_gene_variant COAD-US 11 58962827 58962827 deletion of <=200bp C - exon_variant COAD-US 11 58962827 58962827 deletion of <=200bp C - frameshift_variant I401 COAD-US 11 58962827 58962827 deletion of <=200bp C - frameshift_variant I507 COAD-US 11 58978643 58978643 single base substitution C T downstream_gene_variant COAD-US 11 58980257 58980257 single base substitution C T downstream_gene_variant COCA-CN 11 58934626 58934626 single base substitution T C upstream_gene_variant COCA-CN 11 58949309 58949309 single base substitution G A 5_prime_UTR_variant COCA-CN 11 58949309 58949309 single base substitution G A synonymous_variant T103T 309G>A COCA-CN 11 58949309 58949309 single base substitution G A upstream_gene_variant COCA-CN 11 58959658 58959658 single base substitution C G exon_variant COCA-CN 11 58959658 58959658 single base substitution C G missense_variant L331V 991C>G COCA-CN 11 58959658 58959658 single base substitution C G missense_variant L437V 1309C>G COCA-CN 11 58959658 58959658 single base substitution C G upstream_gene_variant COCA-CN 11 58959777 58959777 single base substitution G T downstream_gene_variant COCA-CN 11 58959777 58959777 single base substitution G T intron_variant COCA-CN 11 58959777 58959777 single base substitution G T upstream_gene_variant COCA-CN 11 58977318 58977318 single base substitution T G downstream_gene_variant COCA-CN 11 58979068 58979068 single base substitution T C downstream_gene_variant COCA-CN 11 58979643 58979643 single base substitution A C downstream_gene_variant COCA-CN 11 58980138 58980138 single base substitution G T downstream_gene_variant COCA-CN 11 58980299 58980299 single base substitution C T downstream_gene_variant EOPC-DE 11 58939627 58939627 single base substitution G A intron_variant EOPC-DE 11 58939627 58939627 single base substitution G A upstream_gene_variant ESAD-UK 11 58933944 58933944 single base substitution A G upstream_gene_variant ESAD-UK 11 58934060 58934060 single base substitution G A upstream_gene_variant ESAD-UK 11 58935985 58935985 single base substitution G A upstream_gene_variant ESAD-UK 11 58940852 58940852 single base substitution G A intron_variant ESAD-UK 11 58944411 58944411 single base substitution G A intron_variant ESAD-UK 11 58945175 58945175 deletion of <=200bp C - intron_variant ESAD-UK 11 58945506 58945506 single base substitution T A intron_variant ESAD-UK 11 58947054 58947054 single base substitution T G intron_variant ESAD-UK 11 58947118 58947118 single base substitution C T intron_variant ESAD-UK 11 58948141 58948141 single base substitution C T intron_variant ESAD-UK 11 58948141 58948141 single base substitution C T upstream_gene_variant ESAD-UK 11 58950525 58950525 single base substitution C G intron_variant ESAD-UK 11 58950525 58950525 single base substitution C G upstream_gene_variant ESAD-UK 11 58952109 58952109 single base substitution A G intron_variant ESAD-UK 11 58952109 58952109 single base substitution A G upstream_gene_variant ESAD-UK 11 58954117 58954117 single base substitution C G intron_variant ESAD-UK 11 58954447 58954447 single base substitution C T intron_variant ESAD-UK 11 58954836 58954836 single base substitution G A intron_variant ESAD-UK 11 58964056 58964070 deletion of <=200bp GCCACAGAAGGGGCC - downstream_gene_variant ESAD-UK 11 58964056 58964070 deletion of <=200bp GCCACAGAAGGGGCC - intron_variant ESAD-UK 11 58965841 58965841 single base substitution G T intron_variant ESAD-UK 11 58966885 58966885 single base substitution C T intron_variant ESAD-UK 11 58968795 58968795 single base substitution T C intron_variant ESAD-UK 11 58968802 58968802 single base substitution C T intron_variant ESAD-UK 11 58969254 58969254 single base substitution T C intron_variant ESAD-UK 11 58972517 58972517 single base substitution C G 3_prime_UTR_variant ESAD-UK 11 58972517 58972517 single base substitution C G downstream_gene_variant ESAD-UK 11 58974393 58974393 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 58974393 58974393 single base substitution G A downstream_gene_variant ESAD-UK 11 58975144 58975144 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 58975144 58975144 single base substitution G A downstream_gene_variant ESAD-UK 11 58978423 58978423 single base substitution C T downstream_gene_variant ESCA-CN 11 58949728 58949728 single base substitution C A missense_variant T137K 410C>A ESCA-CN 11 58949728 58949728 single base substitution C A missense_variant T243K 728C>A ESCA-CN 11 58949728 58949728 single base substitution C A upstream_gene_variant ESCA-CN 11 58978347 58978347 single base substitution G A downstream_gene_variant GBM-US 11 58949764 58949764 single base substitution C T missense_variant S149L 446C>T GBM-US 11 58949764 58949764 single base substitution C T missense_variant S255L 764C>T GBM-US 11 58949764 58949764 single base substitution C T upstream_gene_variant GBM-US 11 58949878 58949878 single base substitution A G missense_variant N187S 560A>G GBM-US 11 58949878 58949878 single base substitution A G missense_variant N293S 878A>G GBM-US 11 58949878 58949878 single base substitution A G upstream_gene_variant GBM-US 11 58978613 58978613 single base substitution A G downstream_gene_variant GBM-US 11 58978683 58978683 single base substitution C T downstream_gene_variant KIRC-US 11 58978851 58978851 single base substitution T A downstream_gene_variant KIRP-US 11 58978386 58978386 single base substitution A T downstream_gene_variant KIRP-US 11 58978564 58978564 single base substitution C T downstream_gene_variant LAML-KR 11 58960968 58960968 single base substitution G T downstream_gene_variant LAML-KR 11 58960968 58960968 single base substitution G T intron_variant LAML-KR 11 58960968 58960968 single base substitution G T upstream_gene_variant LGG-US 11 58978417 58978417 single base substitution G A downstream_gene_variant LICA-CN 11 58979763 58979763 single base substitution G A downstream_gene_variant LICA-FR 11 58978737 58978737 single base substitution G T downstream_gene_variant LICA-FR 11 58979628 58979628 single base substitution G A downstream_gene_variant LIHC-US 11 58979138 58979138 insertion of <=200bp - G downstream_gene_variant LIHC-US 11 58979671 58979671 single base substitution G A downstream_gene_variant LIHC-US 11 58980026 58980026 single base substitution C T downstream_gene_variant LINC-JP 11 58938683 58938683 single base substitution G A upstream_gene_variant LINC-JP 11 58940083 58940083 single base substitution G C intron_variant LINC-JP 11 58940083 58940083 single base substitution G C synonymous_variant S5S 15G>C LINC-JP 11 58944437 58944437 single base substitution C G intron_variant LINC-JP 11 58945963 58945963 single base substitution T C intron_variant LINC-JP 11 58956739 58956739 single base substitution T G exon_variant LINC-JP 11 58956739 58956739 single base substitution T G missense_variant S262A 784T>G LINC-JP 11 58956739 58956739 single base substitution T G missense_variant S368A 1102T>G LINC-JP 11 58974004 58974004 single base substitution G A 3_prime_UTR_variant LINC-JP 11 58974004 58974004 single base substitution G A downstream_gene_variant LIRI-JP 11 58935500 58935500 single base substitution C T upstream_gene_variant LIRI-JP 11 58936753 58936753 single base substitution A C upstream_gene_variant LIRI-JP 11 58942283 58942283 single base substitution T G intron_variant LIRI-JP 11 58946160 58946160 single base substitution C T intron_variant LIRI-JP 11 58949007 58949007 single base substitution C G intron_variant LIRI-JP 11 58949007 58949007 single base substitution C G upstream_gene_variant LIRI-JP 11 58949092 58949092 single base substitution C T intron_variant LIRI-JP 11 58949092 58949092 single base substitution C T upstream_gene_variant LIRI-JP 11 58952707 58952707 single base substitution C T intron_variant LIRI-JP 11 58952707 58952707 single base substitution C T upstream_gene_variant LIRI-JP 11 58953012 58953012 single base substitution C T intron_variant LIRI-JP 11 58953474 58953474 single base substitution G C intron_variant LIRI-JP 11 58955924 58955924 single base substitution A T intron_variant LIRI-JP 11 58955983 58955983 single base substitution G T intron_variant LIRI-JP 11 58958609 58958609 deletion of <=200bp A - exon_variant LIRI-JP 11 58958609 58958609 deletion of <=200bp A - frameshift_variant L288 LIRI-JP 11 58958609 58958609 deletion of <=200bp A - frameshift_variant L394 LIRI-JP 11 58958609 58958609 deletion of <=200bp A - upstream_gene_variant LIRI-JP 11 58959991 58959991 single base substitution G A downstream_gene_variant LIRI-JP 11 58959991 58959991 single base substitution G A intron_variant LIRI-JP 11 58959991 58959991 single base substitution G A upstream_gene_variant LIRI-JP 11 58961985 58961985 single base substitution A G downstream_gene_variant LIRI-JP 11 58961985 58961985 single base substitution A G intron_variant LIRI-JP 11 58961985 58961985 single base substitution A G upstream_gene_variant LIRI-JP 11 58962270 58962270 single base substitution A G downstream_gene_variant LIRI-JP 11 58962270 58962270 single base substitution A G intron_variant LIRI-JP 11 58962270 58962270 single base substitution A G upstream_gene_variant LIRI-JP 11 58966529 58966529 single base substitution A G intron_variant LIRI-JP 11 58968567 58968567 single base substitution A G intron_variant LIRI-JP 11 58969215 58969215 single base substitution A G intron_variant LIRI-JP 11 58971801 58971801 single base substitution T C intron_variant LIRI-JP 11 58971812 58971812 single base substitution G A intron_variant LIRI-JP 11 58975676 58975676 single base substitution T A 3_prime_UTR_variant LIRI-JP 11 58975676 58975676 single base substitution T A downstream_gene_variant LIRI-JP 11 58975978 58975978 single base substitution G T 3_prime_UTR_variant LIRI-JP 11 58975978 58975978 single base substitution G T downstream_gene_variant LIRI-JP 11 58979641 58979641 single base substitution C T downstream_gene_variant LIRI-JP 11 58979797 58979797 single base substitution C T downstream_gene_variant LIRI-JP 11 58980322 58980322 single base substitution G T downstream_gene_variant LUSC-KR 11 58936209 58936209 single base substitution C A upstream_gene_variant LUSC-KR 11 58939964 58939964 single base substitution G T intron_variant LUSC-KR 11 58939964 58939964 single base substitution G T upstream_gene_variant LUSC-KR 11 58946621 58946621 single base substitution C G intron_variant LUSC-KR 11 58948735 58948735 single base substitution G T intron_variant LUSC-KR 11 58948735 58948735 single base substitution G T upstream_gene_variant LUSC-KR 11 58948754 58948754 single base substitution G A intron_variant LUSC-KR 11 58948754 58948754 single base substitution G A upstream_gene_variant LUSC-KR 11 58949352 58949352 single base substitution G C missense_variant E118Q 352G>C LUSC-KR 11 58949352 58949352 single base substitution G C missense_variant E12Q 34G>C LUSC-KR 11 58949352 58949352 single base substitution G C upstream_gene_variant LUSC-KR 11 58952302 58952302 single base substitution G A intron_variant LUSC-KR 11 58952302 58952302 single base substitution G A upstream_gene_variant LUSC-KR 11 58963172 58963172 single base substitution A G downstream_gene_variant LUSC-KR 11 58963172 58963172 single base substitution A G intron_variant LUSC-KR 11 58965588 58965588 single base substitution G C intron_variant LUSC-KR 11 58965764 58965764 single base substitution G C intron_variant LUSC-KR 11 58966735 58966735 single base substitution A G intron_variant LUSC-KR 11 58971973 58971973 single base substitution G C intron_variant LUSC-KR 11 58972669 58972669 single base substitution C A 3_prime_UTR_variant LUSC-KR 11 58972669 58972669 single base substitution C A downstream_gene_variant LUSC-KR 11 58973731 58973731 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 58973731 58973731 single base substitution A G downstream_gene_variant LUSC-KR 11 58973860 58973860 single base substitution G C 3_prime_UTR_variant LUSC-KR 11 58973860 58973860 single base substitution G C downstream_gene_variant LUSC-KR 11 58974921 58974921 single base substitution A T 3_prime_UTR_variant LUSC-KR 11 58974921 58974921 single base substitution A T downstream_gene_variant LUSC-KR 11 58975084 58975084 single base substitution G T 3_prime_UTR_variant LUSC-KR 11 58975084 58975084 single base substitution G T downstream_gene_variant LUSC-KR 11 58975307 58975307 single base substitution T G 3_prime_UTR_variant LUSC-KR 11 58975307 58975307 single base substitution T G downstream_gene_variant LUSC-KR 11 58976634 58976634 single base substitution G A downstream_gene_variant LUSC-KR 11 58976711 58976711 single base substitution A G downstream_gene_variant LUSC-KR 11 58977372 58977372 single base substitution T G downstream_gene_variant LUSC-KR 11 58977542 58977542 single base substitution C G downstream_gene_variant LUSC-KR 11 58977768 58977768 single base substitution G T downstream_gene_variant LUSC-KR 11 58978684 58978684 single base substitution G A downstream_gene_variant LUSC-KR 11 58979607 58979607 single base substitution A G downstream_gene_variant LUSC-KR 11 58980549 58980549 single base substitution A G downstream_gene_variant LUSC-KR 11 58980648 58980648 single base substitution C T downstream_gene_variant LUSC-US 11 58949569 58949569 single base substitution C T missense_variant S190F 569C>T LUSC-US 11 58949569 58949569 single base substitution C T missense_variant S84F 251C>T LUSC-US 11 58949569 58949569 single base substitution C T upstream_gene_variant LUSC-US 11 58972187 58972187 single base substitution C G exon_variant LUSC-US 11 58972187 58972187 single base substitution C G synonymous_variant L449L 1347C>G LUSC-US 11 58972187 58972187 single base substitution C G synonymous_variant L555L 1665C>G LUSC-US 11 58972338 58972338 single base substitution G C downstream_gene_variant LUSC-US 11 58972338 58972338 single base substitution G C missense_variant A500P 1498G>C LUSC-US 11 58972338 58972338 single base substitution G C missense_variant A606P 1816G>C LUSC-US 11 58978323 58978323 single base substitution G A downstream_gene_variant LUSC-US 11 58978605 58978605 single base substitution G C downstream_gene_variant LUSC-US 11 58978608 58978608 single base substitution G A downstream_gene_variant LUSC-US 11 58978773 58978773 single base substitution G T downstream_gene_variant LUSC-US 11 58978896 58978896 single base substitution G A downstream_gene_variant LUSC-US 11 58979095 58979095 single base substitution C G downstream_gene_variant LUSC-US 11 58979250 58979250 single base substitution G T downstream_gene_variant LUSC-US 11 58979633 58979633 single base substitution C T downstream_gene_variant LUSC-US 11 58979667 58979667 single base substitution G A downstream_gene_variant LUSC-US 11 58980144 58980144 single base substitution C G downstream_gene_variant LUSC-US 11 58980283 58980283 single base substitution G C downstream_gene_variant MALY-DE 11 58941919 58941920 deletion of <=200bp AG - intron_variant MALY-DE 11 58947395 58947396 deletion of <=200bp AC - intron_variant MALY-DE 11 58959632 58959632 single base substitution C T exon_variant MALY-DE 11 58959632 58959632 single base substitution C T missense_variant T322M 965C>T MALY-DE 11 58959632 58959632 single base substitution C T missense_variant T428M 1283C>T MALY-DE 11 58959632 58959632 single base substitution C T upstream_gene_variant MALY-DE 11 58964671 58964671 single base substitution G A downstream_gene_variant MALY-DE 11 58964671 58964671 single base substitution G A intron_variant MALY-DE 11 58975735 58975737 deletion of <=200bp ACC - 3_prime_UTR_variant MALY-DE 11 58975735 58975737 deletion of <=200bp ACC - downstream_gene_variant MALY-DE 11 58978094 58978094 single base substitution C T downstream_gene_variant MALY-DE 11 58978715 58978715 single base substitution C A downstream_gene_variant MALY-DE 11 58978840 58978840 single base substitution C G downstream_gene_variant MALY-DE 11 58978980 58978980 single base substitution G A downstream_gene_variant MALY-DE 11 58979053 58979053 single base substitution C T downstream_gene_variant MALY-DE 11 58979298 58979298 single base substitution G A downstream_gene_variant MELA-AU 11 58933923 58933923 single base substitution G A upstream_gene_variant MELA-AU 11 58933971 58933971 single base substitution C T upstream_gene_variant MELA-AU 11 58934086 58934086 single base substitution G A upstream_gene_variant MELA-AU 11 58934224 58934224 single base substitution C T upstream_gene_variant MELA-AU 11 58934332 58934332 single base substitution A C upstream_gene_variant MELA-AU 11 58934363 58934363 single base substitution C T upstream_gene_variant MELA-AU 11 58934970 58934970 single base substitution G A upstream_gene_variant MELA-AU 11 58935246 58935246 single base substitution G A upstream_gene_variant MELA-AU 11 58935329 58935329 single base substitution A G upstream_gene_variant MELA-AU 11 58935829 58935829 single base substitution T A upstream_gene_variant MELA-AU 11 58935989 58935989 single base substitution C T upstream_gene_variant MELA-AU 11 58936036 58936036 single base substitution C T upstream_gene_variant MELA-AU 11 58936104 58936104 single base substitution G A upstream_gene_variant MELA-AU 11 58936163 58936163 single base substitution C T upstream_gene_variant MELA-AU 11 58936187 58936187 single base substitution G A upstream_gene_variant MELA-AU 11 58936541 58936541 single base substitution C T upstream_gene_variant MELA-AU 11 58936721 58936721 single base substitution G A upstream_gene_variant MELA-AU 11 58936938 58936938 single base substitution T C upstream_gene_variant MELA-AU 11 58937022 58937022 single base substitution C T upstream_gene_variant MELA-AU 11 58937530 58937530 single base substitution G A upstream_gene_variant MELA-AU 11 58937968 58937968 single base substitution C T upstream_gene_variant MELA-AU 11 58938021 58938021 single base substitution C T upstream_gene_variant MELA-AU 11 58938062 58938062 single base substitution G A upstream_gene_variant MELA-AU 11 58938115 58938115 single base substitution C T upstream_gene_variant MELA-AU 11 58938213 58938213 single base substitution G A upstream_gene_variant MELA-AU 11 58938558 58938558 single base substitution A T upstream_gene_variant MELA-AU 11 58938564 58938564 single base substitution C T upstream_gene_variant MELA-AU 11 58938569 58938569 single base substitution G A upstream_gene_variant MELA-AU 11 58938803 58938803 single base substitution C T upstream_gene_variant MELA-AU 11 58939452 58939452 single base substitution T G intron_variant MELA-AU 11 58939452 58939452 single base substitution T G upstream_gene_variant MELA-AU 11 58940495 58940495 single base substitution T C intron_variant MELA-AU 11 58940676 58940676 single base substitution C T intron_variant MELA-AU 11 58940813 58940813 single base substitution G A intron_variant MELA-AU 11 58942673 58942673 single base substitution C T intron_variant MELA-AU 11 58943039 58943039 single base substitution G A intron_variant MELA-AU 11 58944688 58944688 single base substitution C T intron_variant MELA-AU 11 58944884 58944884 single base substitution A C intron_variant MELA-AU 11 58945105 58945105 single base substitution C T intron_variant MELA-AU 11 58945786 58945786 single base substitution G A intron_variant MELA-AU 11 58946276 58946276 deletion of <=200bp A - intron_variant MELA-AU 11 58946356 58946356 single base substitution G A intron_variant MELA-AU 11 58947058 58947058 single base substitution T C intron_variant MELA-AU 11 58947319 58947319 single base substitution C T intron_variant MELA-AU 11 58947500 58947500 single base substitution C T intron_variant MELA-AU 11 58947720 58947720 single base substitution G A intron_variant MELA-AU 11 58947772 58947772 single base substitution T C intron_variant MELA-AU 11 58947772 58947772 single base substitution T C upstream_gene_variant MELA-AU 11 58947935 58947935 single base substitution T A intron_variant MELA-AU 11 58947935 58947935 single base substitution T A upstream_gene_variant MELA-AU 11 58948122 58948122 single base substitution T G intron_variant MELA-AU 11 58948122 58948122 single base substitution T G upstream_gene_variant MELA-AU 11 58948239 58948239 single base substitution C T intron_variant MELA-AU 11 58948239 58948239 single base substitution C T upstream_gene_variant MELA-AU 11 58948548 58948548 single base substitution C T intron_variant MELA-AU 11 58948548 58948548 single base substitution C T upstream_gene_variant MELA-AU 11 58948853 58948853 single base substitution C T intron_variant MELA-AU 11 58948853 58948853 single base substitution C T upstream_gene_variant MELA-AU 11 58949183 58949183 single base substitution C T intron_variant MELA-AU 11 58949183 58949183 single base substitution C T upstream_gene_variant MELA-AU 11 58949830 58949830 single base substitution C T missense_variant P171L 512C>T MELA-AU 11 58949830 58949830 single base substitution C T missense_variant P277L 830C>T MELA-AU 11 58949830 58949830 single base substitution C T upstream_gene_variant MELA-AU 11 58949880 58949880 single base substitution C T missense_variant R188C 562C>T MELA-AU 11 58949880 58949880 single base substitution C T missense_variant R294C 880C>T MELA-AU 11 58949880 58949880 single base substitution C T upstream_gene_variant MELA-AU 11 58951207 58951207 single base substitution G A intron_variant MELA-AU 11 58951207 58951207 single base substitution G A upstream_gene_variant MELA-AU 11 58951271 58951271 single base substitution T G intron_variant MELA-AU 11 58951271 58951271 single base substitution T G upstream_gene_variant MELA-AU 11 58952339 58952339 single base substitution C T intron_variant MELA-AU 11 58952339 58952339 single base substitution C T upstream_gene_variant MELA-AU 11 58952453 58952453 single base substitution C T intron_variant MELA-AU 11 58952453 58952453 single base substitution C T upstream_gene_variant MELA-AU 11 58952845 58952845 single base substitution C T intron_variant MELA-AU 11 58953132 58953132 single base substitution G A intron_variant MELA-AU 11 58953195 58953210 deletion of <=200bp TCGAGAATCAGAAAAT - intron_variant MELA-AU 11 58953683 58953683 single base substitution C T intron_variant MELA-AU 11 58953977 58953977 single base substitution C T intron_variant MELA-AU 11 58954113 58954113 single base substitution C T intron_variant MELA-AU 11 58954259 58954259 single base substitution A G intron_variant MELA-AU 11 58954491 58954491 single base substitution C T intron_variant MELA-AU 11 58955049 58955049 single base substitution C T intron_variant MELA-AU 11 58955252 58955252 single base substitution C T intron_variant MELA-AU 11 58957156 58957156 single base substitution C T intron_variant MELA-AU 11 58957339 58957339 single base substitution A G intron_variant MELA-AU 11 58957932 58957932 single base substitution T C intron_variant MELA-AU 11 58957932 58957932 single base substitution T C upstream_gene_variant MELA-AU 11 58958019 58958019 single base substitution T C intron_variant MELA-AU 11 58958019 58958019 single base substitution T C upstream_gene_variant MELA-AU 11 58958126 58958126 single base substitution C T intron_variant MELA-AU 11 58958126 58958126 single base substitution C T upstream_gene_variant MELA-AU 11 58958149 58958149 single base substitution C T intron_variant MELA-AU 11 58958149 58958149 single base substitution C T upstream_gene_variant MELA-AU 11 58958474 58958474 single base substitution C T intron_variant MELA-AU 11 58958474 58958474 single base substitution C T upstream_gene_variant MELA-AU 11 58958538 58958538 single base substitution G A intron_variant MELA-AU 11 58958538 58958538 single base substitution G A upstream_gene_variant MELA-AU 11 58958826 58958826 single base substitution C T intron_variant MELA-AU 11 58958826 58958826 single base substitution C T upstream_gene_variant MELA-AU 11 58958879 58958879 single base substitution C T intron_variant MELA-AU 11 58958879 58958879 single base substitution C T upstream_gene_variant MELA-AU 11 58959818 58959818 single base substitution C T downstream_gene_variant MELA-AU 11 58959818 58959818 single base substitution C T intron_variant MELA-AU 11 58959818 58959818 single base substitution C T upstream_gene_variant MELA-AU 11 58961037 58961037 single base substitution C T downstream_gene_variant MELA-AU 11 58961037 58961037 single base substitution C T intron_variant MELA-AU 11 58961037 58961037 single base substitution C T upstream_gene_variant MELA-AU 11 58961341 58961341 single base substitution C G downstream_gene_variant MELA-AU 11 58961341 58961341 single base substitution C G intron_variant MELA-AU 11 58961341 58961341 single base substitution C G upstream_gene_variant MELA-AU 11 58961345 58961345 single base substitution G A downstream_gene_variant MELA-AU 11 58961345 58961345 single base substitution G A intron_variant MELA-AU 11 58961345 58961345 single base substitution G A upstream_gene_variant MELA-AU 11 58961437 58961437 single base substitution A G downstream_gene_variant MELA-AU 11 58961437 58961437 single base substitution A G intron_variant MELA-AU 11 58961437 58961437 single base substitution A G upstream_gene_variant MELA-AU 11 58961462 58961462 single base substitution C T downstream_gene_variant MELA-AU 11 58961462 58961462 single base substitution C T intron_variant MELA-AU 11 58961462 58961462 single base substitution C T upstream_gene_variant MELA-AU 11 58961564 58961564 single base substitution C T downstream_gene_variant MELA-AU 11 58961564 58961564 single base substitution C T intron_variant MELA-AU 11 58961564 58961564 single base substitution C T upstream_gene_variant MELA-AU 11 58961808 58961808 single base substitution C T downstream_gene_variant MELA-AU 11 58961808 58961808 single base substitution C T intron_variant MELA-AU 11 58961808 58961808 single base substitution C T upstream_gene_variant MELA-AU 11 58963365 58963365 single base substitution C T downstream_gene_variant MELA-AU 11 58963365 58963365 single base substitution C T intron_variant MELA-AU 11 58963877 58963877 single base substitution C T downstream_gene_variant MELA-AU 11 58963877 58963877 single base substitution C T intron_variant MELA-AU 11 58964678 58964678 single base substitution A T downstream_gene_variant MELA-AU 11 58964678 58964678 single base substitution A T intron_variant MELA-AU 11 58965626 58965626 single base substitution C T intron_variant MELA-AU 11 58966020 58966020 single base substitution G A intron_variant MELA-AU 11 58966048 58966048 single base substitution C T intron_variant MELA-AU 11 58966671 58966671 single base substitution C T intron_variant MELA-AU 11 58966777 58966777 single base substitution A T intron_variant MELA-AU 11 58967033 58967033 single base substitution T A intron_variant MELA-AU 11 58968666 58968666 single base substitution T C intron_variant MELA-AU 11 58969088 58969088 single base substitution C T intron_variant MELA-AU 11 58970256 58970256 single base substitution C T intron_variant MELA-AU 11 58971458 58971458 single base substitution T A intron_variant MELA-AU 11 58971520 58971520 single base substitution C T intron_variant MELA-AU 11 58972238 58972238 single base substitution C T downstream_gene_variant MELA-AU 11 58972238 58972238 single base substitution C T synonymous_variant I466I 1398C>T MELA-AU 11 58972238 58972238 single base substitution C T synonymous_variant I572I 1716C>T MELA-AU 11 58973360 58973360 single base substitution C T 3_prime_UTR_variant MELA-AU 11 58973360 58973360 single base substitution C T downstream_gene_variant MELA-AU 11 58974230 58974230 single base substitution T C 3_prime_UTR_variant MELA-AU 11 58974230 58974230 single base substitution T C downstream_gene_variant MELA-AU 11 58974614 58974614 single base substitution T C 3_prime_UTR_variant MELA-AU 11 58974614 58974614 single base substitution T C downstream_gene_variant MELA-AU 11 58974689 58974689 single base substitution G A 3_prime_UTR_variant MELA-AU 11 58974689 58974689 single base substitution G A downstream_gene_variant MELA-AU 11 58974720 58974720 single base substitution G A 3_prime_UTR_variant MELA-AU 11 58974720 58974720 single base substitution G A downstream_gene_variant MELA-AU 11 58975116 58975116 single base substitution C T 3_prime_UTR_variant MELA-AU 11 58975116 58975116 single base substitution C T downstream_gene_variant MELA-AU 11 58976126 58976126 single base substitution G A downstream_gene_variant MELA-AU 11 58976800 58976800 single base substitution C T downstream_gene_variant MELA-AU 11 58977227 58977227 single base substitution T C downstream_gene_variant MELA-AU 11 58978053 58978053 single base substitution C T downstream_gene_variant MELA-AU 11 58978299 58978299 single base substitution C T downstream_gene_variant MELA-AU 11 58978559 58978559 single base substitution G A downstream_gene_variant MELA-AU 11 58978661 58978661 single base substitution C T downstream_gene_variant MELA-AU 11 58978712 58978712 single base substitution G A downstream_gene_variant MELA-AU 11 58978719 58978719 single base substitution C T downstream_gene_variant MELA-AU 11 58979162 58979162 single base substitution C T downstream_gene_variant MELA-AU 11 58979778 58979778 single base substitution C T downstream_gene_variant MELA-AU 11 58980017 58980018 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 58980257 58980257 single base substitution C T downstream_gene_variant MELA-AU 11 58980663 58980663 single base substitution C T downstream_gene_variant MELA-AU 11 58980774 58980774 single base substitution C T downstream_gene_variant MELA-AU 11 58980935 58980935 single base substitution G T downstream_gene_variant ORCA-IN 11 58949414 58949414 single base substitution C A missense_variant N138K 414C>A ORCA-IN 11 58949414 58949414 single base substitution C A missense_variant N32K 96C>A ORCA-IN 11 58949414 58949414 single base substitution C A upstream_gene_variant ORCA-IN 11 58949454 58949454 single base substitution C T missense_variant R152C 454C>T ORCA-IN 11 58949454 58949454 single base substitution C T missense_variant R46C 136C>T ORCA-IN 11 58949454 58949454 single base substitution C T upstream_gene_variant ORCA-IN 11 58951759 58951759 single base substitution C G intron_variant ORCA-IN 11 58951759 58951759 single base substitution C G upstream_gene_variant ORCA-IN 11 58958643 58958643 single base substitution G C exon_variant ORCA-IN 11 58958643 58958643 single base substitution G C missense_variant D300H 898G>C ORCA-IN 11 58958643 58958643 single base substitution G C missense_variant D406H 1216G>C ORCA-IN 11 58958643 58958643 single base substitution G C upstream_gene_variant OV-AU 11 58933979 58933979 single base substitution G A upstream_gene_variant OV-AU 11 58939565 58939565 single base substitution T G intron_variant OV-AU 11 58939565 58939565 single base substitution T G upstream_gene_variant OV-AU 11 58941147 58941147 single base substitution T C intron_variant OV-AU 11 58942207 58942207 single base substitution T A intron_variant OV-AU 11 58946232 58946232 single base substitution A T intron_variant OV-AU 11 58948724 58948724 single base substitution C T intron_variant OV-AU 11 58948724 58948724 single base substitution C T upstream_gene_variant OV-AU 11 58950200 58950200 single base substitution C G intron_variant OV-AU 11 58950200 58950200 single base substitution C G upstream_gene_variant OV-AU 11 58955815 58955815 single base substitution A G intron_variant OV-AU 11 58963348 58963348 single base substitution T A downstream_gene_variant OV-AU 11 58963348 58963348 single base substitution T A intron_variant OV-AU 11 58966337 58966337 single base substitution G A intron_variant OV-AU 11 58966589 58966589 single base substitution A T intron_variant OV-AU 11 58969300 58969300 single base substitution C A intron_variant OV-AU 11 58972211 58972211 single base substitution C T exon_variant OV-AU 11 58972211 58972211 single base substitution C T synonymous_variant S457S 1371C>T OV-AU 11 58972211 58972211 single base substitution C T synonymous_variant S563S 1689C>T OV-AU 11 58979106 58979106 single base substitution G T downstream_gene_variant OV-US 11 58978843 58978843 single base substitution G C downstream_gene_variant PACA-AU 11 58936101 58936101 deletion of <=200bp G - upstream_gene_variant PACA-AU 11 58937494 58937494 single base substitution G T upstream_gene_variant PACA-AU 11 58949445 58949445 single base substitution C T missense_variant R149C 445C>T PACA-AU 11 58949445 58949445 single base substitution C T missense_variant R43C 127C>T PACA-AU 11 58949445 58949445 single base substitution C T upstream_gene_variant PACA-AU 11 58949964 58949964 single base substitution A G intron_variant PACA-AU 11 58949964 58949964 single base substitution A G upstream_gene_variant PACA-AU 11 58952031 58952031 single base substitution C T intron_variant PACA-AU 11 58952031 58952031 single base substitution C T upstream_gene_variant PACA-AU 11 58955758 58955758 single base substitution A G intron_variant PACA-AU 11 58959146 58959146 single base substitution C T intron_variant PACA-AU 11 58959146 58959146 single base substitution C T upstream_gene_variant PACA-AU 11 58961470 58961470 single base substitution C T downstream_gene_variant PACA-AU 11 58961470 58961470 single base substitution C T intron_variant PACA-AU 11 58961470 58961470 single base substitution C T upstream_gene_variant PACA-AU 11 58970254 58970254 single base substitution T A intron_variant PACA-AU 11 58972954 58972954 single base substitution G A 3_prime_UTR_variant PACA-AU 11 58972954 58972954 single base substitution G A downstream_gene_variant PACA-AU 11 58973310 58973310 single base substitution C T 3_prime_UTR_variant PACA-AU 11 58973310 58973310 single base substitution C T downstream_gene_variant PACA-AU 11 58979598 58979598 single base substitution G A downstream_gene_variant PACA-CA 11 58934754 58934754 single base substitution G A upstream_gene_variant PACA-CA 11 58935999 58935999 single base substitution C T upstream_gene_variant PACA-CA 11 58936000 58936000 single base substitution G A upstream_gene_variant PACA-CA 11 58936529 58936529 single base substitution C T upstream_gene_variant PACA-CA 11 58944533 58944533 single base substitution T G intron_variant PACA-CA 11 58944859 58944859 insertion of <=200bp - T intron_variant PACA-CA 11 58948846 58948846 deletion of <=200bp C - intron_variant PACA-CA 11 58948846 58948846 deletion of <=200bp C - upstream_gene_variant PACA-CA 11 58957675 58957675 single base substitution T G intron_variant PACA-CA 11 58957675 58957675 single base substitution T G upstream_gene_variant PACA-CA 11 58958855 58958855 single base substitution T C intron_variant PACA-CA 11 58958855 58958855 single base substitution T C upstream_gene_variant PACA-CA 11 58961797 58961797 single base substitution G A downstream_gene_variant PACA-CA 11 58961797 58961797 single base substitution G A intron_variant PACA-CA 11 58961797 58961797 single base substitution G A upstream_gene_variant PACA-CA 11 58965484 58965484 single base substitution C A intron_variant PACA-CA 11 58972441 58972441 single base substitution G C 3_prime_UTR_variant PACA-CA 11 58972441 58972441 single base substitution G C downstream_gene_variant PACA-CA 11 58975012 58975012 single base substitution C T 3_prime_UTR_variant PACA-CA 11 58975012 58975012 single base substitution C T downstream_gene_variant PACA-CA 11 58976868 58976868 single base substitution G A downstream_gene_variant PACA-CA 11 58977415 58977415 single base substitution A G downstream_gene_variant PAEN-AU 11 58939280 58939280 single base substitution G A intron_variant PAEN-AU 11 58939280 58939280 single base substitution G A upstream_gene_variant PAEN-AU 11 58943075 58943075 single base substitution G T intron_variant PAEN-AU 11 58962938 58962938 single base substitution C T downstream_gene_variant PAEN-AU 11 58962938 58962938 single base substitution C T intron_variant PAEN-IT 11 58937967 58937967 single base substitution T A upstream_gene_variant PBCA-DE 11 58947395 58947396 deletion of <=200bp AC - intron_variant PBCA-DE 11 58951503 58951503 single base substitution C T intron_variant PBCA-DE 11 58951503 58951503 single base substitution C T upstream_gene_variant PBCA-DE 11 58957600 58957600 single base substitution A T intron_variant PBCA-DE 11 58957600 58957600 single base substitution A T upstream_gene_variant PBCA-DE 11 58966630 58966630 single base substitution T C intron_variant PRAD-UK 11 58950925 58950925 single base substitution C A intron_variant PRAD-UK 11 58950925 58950925 single base substitution C A upstream_gene_variant PRAD-US 11 58959580 58959580 single base substitution A G exon_variant PRAD-US 11 58959580 58959580 single base substitution A G missense_variant I305V 913A>G PRAD-US 11 58959580 58959580 single base substitution A G missense_variant I411V 1231A>G PRAD-US 11 58959580 58959580 single base substitution A G upstream_gene_variant PRAD-US 11 58978336 58978336 single base substitution A C downstream_gene_variant PRAD-US 11 58978841 58978841 single base substitution C T downstream_gene_variant PRAD-US 11 58979029 58979029 single base substitution C T downstream_gene_variant PRAD-US 11 58979394 58979394 single base substitution G T downstream_gene_variant PRAD-US 11 58979678 58979678 single base substitution G A downstream_gene_variant PRAD-US 11 58979777 58979777 single base substitution T G downstream_gene_variant RECA-EU 11 58936187 58936187 single base substitution G A upstream_gene_variant RECA-EU 11 58946871 58946871 single base substitution T C intron_variant RECA-EU 11 58948128 58948128 single base substitution A T intron_variant RECA-EU 11 58948128 58948128 single base substitution A T upstream_gene_variant RECA-EU 11 58954059 58954059 single base substitution C T intron_variant RECA-EU 11 58954736 58954736 single base substitution C T intron_variant RECA-EU 11 58958622 58958622 single base substitution C T exon_variant RECA-EU 11 58958622 58958622 single base substitution C T stop_gained Q293* 877C>T RECA-EU 11 58958622 58958622 single base substitution C T stop_gained Q399* 1195C>T RECA-EU 11 58958622 58958622 single base substitution C T upstream_gene_variant RECA-EU 11 58973683 58973683 single base substitution A G 3_prime_UTR_variant RECA-EU 11 58973683 58973683 single base substitution A G downstream_gene_variant SKCA-BR 11 58933979 58933979 insertion of <=200bp - GTATT upstream_gene_variant SKCA-BR 11 58935049 58935049 insertion of <=200bp - GAAAATGTATATTGTATAC upstream_gene_variant SKCA-BR 11 58935987 58935987 single base substitution A G upstream_gene_variant SKCA-BR 11 58942930 58942930 single base substitution A C intron_variant SKCA-BR 11 58947365 58947365 single base substitution C T intron_variant SKCA-BR 11 58954531 58954531 single base substitution T C intron_variant SKCA-BR 11 58958468 58958468 single base substitution C T intron_variant SKCA-BR 11 58958468 58958468 single base substitution C T upstream_gene_variant SKCA-BR 11 58962604 58962604 single base substitution G A downstream_gene_variant SKCA-BR 11 58962604 58962604 single base substitution G A exon_variant SKCA-BR 11 58962604 58962604 single base substitution G A intron_variant SKCA-BR 11 58963608 58963608 single base substitution C T downstream_gene_variant SKCA-BR 11 58963608 58963608 single base substitution C T intron_variant SKCA-BR 11 58969480 58969480 single base substitution A C intron_variant SKCA-BR 11 58970156 58970156 single base substitution A C intron_variant SKCA-BR 11 58971393 58971393 single base substitution C T intron_variant SKCA-BR 11 58976711 58976711 single base substitution A G downstream_gene_variant SKCA-BR 11 58980264 58980264 single base substitution C T downstream_gene_variant SKCM-US 11 58949292 58949292 single base substitution G C 5_prime_UTR_variant SKCM-US 11 58949292 58949292 single base substitution G C missense_variant D98H 292G>C SKCM-US 11 58949292 58949292 single base substitution G C upstream_gene_variant SKCM-US 11 58949302 58949302 single base substitution C T 5_prime_UTR_variant SKCM-US 11 58949302 58949302 single base substitution C T missense_variant S101F 302C>T SKCM-US 11 58949302 58949302 single base substitution C T upstream_gene_variant SKCM-US 11 58949400 58949400 single base substitution G A missense_variant V134I 400G>A SKCM-US 11 58949400 58949400 single base substitution G A missense_variant V28I 82G>A SKCM-US 11 58949400 58949400 single base substitution G A upstream_gene_variant SKCM-US 11 58962779 58962779 single base substitution C T downstream_gene_variant SKCM-US 11 58962779 58962779 single base substitution C T exon_variant SKCM-US 11 58962779 58962779 single base substitution C T synonymous_variant S385S 1155C>T SKCM-US 11 58962779 58962779 single base substitution C T synonymous_variant S491S 1473C>T SKCM-US 11 58962828 58962828 single base substitution C T downstream_gene_variant SKCM-US 11 58962828 58962828 single base substitution C T exon_variant SKCM-US 11 58962828 58962828 single base substitution C T missense_variant P402S 1204C>T SKCM-US 11 58962828 58962828 single base substitution C T missense_variant P508S 1522C>T SKCM-US 11 58978287 58978287 single base substitution C T downstream_gene_variant SKCM-US 11 58978379 58978379 single base substitution C T downstream_gene_variant SKCM-US 11 58978743 58978743 single base substitution A G downstream_gene_variant SKCM-US 11 58978890 58978890 single base substitution G A downstream_gene_variant SKCM-US 11 58978900 58978900 single base substitution C T downstream_gene_variant SKCM-US 11 58979245 58979245 single base substitution T G downstream_gene_variant SKCM-US 11 58979353 58979353 single base substitution T A downstream_gene_variant SKCM-US 11 58980036 58980036 single base substitution C T downstream_gene_variant SKCM-US 11 58980174 58980174 single base substitution C T downstream_gene_variant SKCM-US 11 58980257 58980257 single base substitution C T downstream_gene_variant STAD-US 11 58949400 58949400 single base substitution G A missense_variant V134I 400G>A STAD-US 11 58949400 58949400 single base substitution G A missense_variant V28I 82G>A STAD-US 11 58949400 58949400 single base substitution G A upstream_gene_variant STAD-US 11 58949402 58949402 single base substitution A G synonymous_variant V134V 402A>G STAD-US 11 58949402 58949402 single base substitution A G synonymous_variant V28V 84A>G STAD-US 11 58949402 58949402 single base substitution A G upstream_gene_variant STAD-US 11 58949457 58949457 single base substitution G A missense_variant V153I 457G>A STAD-US 11 58949457 58949457 single base substitution G A missense_variant V47I 139G>A STAD-US 11 58949457 58949457 single base substitution G A upstream_gene_variant STAD-US 11 58949530 58949530 single base substitution G A missense_variant S177N 530G>A STAD-US 11 58949530 58949530 single base substitution G A missense_variant S71N 212G>A STAD-US 11 58949530 58949530 single base substitution G A upstream_gene_variant STAD-US 11 58949550 58949550 insertion of <=200bp - C frameshift_variant P184P? STAD-US 11 58949550 58949550 insertion of <=200bp - C frameshift_variant P78P? STAD-US 11 58949550 58949550 insertion of <=200bp - C upstream_gene_variant STAD-US 11 58949756 58949756 single base substitution C T synonymous_variant T146T 438C>T STAD-US 11 58949756 58949756 single base substitution C T synonymous_variant T252T 756C>T STAD-US 11 58949756 58949756 single base substitution C T upstream_gene_variant STAD-US 11 58956242 58956242 single base substitution T G exon_variant STAD-US 11 58956242 58956242 single base substitution T G missense_variant S218A 652T>G STAD-US 11 58956242 58956242 single base substitution T G missense_variant S324A 970T>G STAD-US 11 58962713 58962713 single base substitution C T downstream_gene_variant STAD-US 11 58962713 58962713 single base substitution C T exon_variant STAD-US 11 58962713 58962713 single base substitution C T synonymous_variant T363T 1089C>T STAD-US 11 58962713 58962713 single base substitution C T synonymous_variant T469T 1407C>T STAD-US 11 58972170 58972170 single base substitution G C exon_variant STAD-US 11 58972170 58972170 single base substitution G C missense_variant A444P 1330G>C STAD-US 11 58972170 58972170 single base substitution G C missense_variant A550P 1648G>C STAD-US 11 58972212 58972212 single base substitution A G exon_variant STAD-US 11 58972212 58972212 single base substitution A G missense_variant T458A 1372A>G STAD-US 11 58972212 58972212 single base substitution A G missense_variant T564A 1690A>G STAD-US 11 58978570 58978570 deletion of <=200bp G - downstream_gene_variant STAD-US 11 58978606 58978606 single base substitution A G downstream_gene_variant STAD-US 11 58978613 58978613 single base substitution A G downstream_gene_variant STAD-US 11 58978631 58978631 single base substitution C T downstream_gene_variant STAD-US 11 58979085 58979085 single base substitution C T downstream_gene_variant STAD-US 11 58979109 58979109 single base substitution G T downstream_gene_variant STAD-US 11 58979219 58979219 single base substitution T C downstream_gene_variant STAD-US 11 58979300 58979300 single base substitution A G downstream_gene_variant STAD-US 11 58979956 58979956 single base substitution T C downstream_gene_variant STAD-US 11 58979972 58979972 insertion of <=200bp - A downstream_gene_variant STAD-US 11 58980175 58980175 single base substitution C T downstream_gene_variant THCA-SA 11 58980232 58980232 single base substitution T G downstream_gene_variant UCEC-US 11 58949373 58949373 single base substitution G A missense_variant D125N 373G>A UCEC-US 11 58949373 58949373 single base substitution G A missense_variant D19N 55G>A UCEC-US 11 58949373 58949373 single base substitution G A upstream_gene_variant UCEC-US 11 58949532 58949532 single base substitution C T missense_variant P178S 532C>T UCEC-US 11 58949532 58949532 single base substitution C T missense_variant P72S 214C>T UCEC-US 11 58949532 58949532 single base substitution C T upstream_gene_variant UCEC-US 11 58949673 58949673 single base substitution G T stop_gained G119* 355G>T UCEC-US 11 58949673 58949673 single base substitution G T stop_gained G225* 673G>T UCEC-US 11 58949673 58949673 single base substitution G T upstream_gene_variant UCEC-US 11 58967193 58967193 single base substitution G A exon_variant UCEC-US 11 58967193 58967193 single base substitution G A missense_variant A419T 1255G>A UCEC-US 11 58967193 58967193 single base substitution G A missense_variant A525T 1573G>A UCEC-US 11 58978213 58978213 single base substitution T C downstream_gene_variant UCEC-US 11 58978238 58978238 single base substitution C T downstream_gene_variant UCEC-US 11 58978599 58978599 single base substitution G A downstream_gene_variant UCEC-US 11 58978765 58978765 single base substitution G A downstream_gene_variant UCEC-US 11 58979080 58979080 single base substitution T C downstream_gene_variant UCEC-US 11 58979205 58979205 single base substitution G A downstream_gene_variant UCEC-US 11 58979321 58979321 single base substitution G A downstream_gene_variant UCEC-US 11 58979329 58979329 single base substitution G T downstream_gene_variant UCEC-US 11 58979511 58979511 single base substitution C A downstream_gene_variant UCEC-US 11 58979987 58979987 single base substitution C A downstream_gene_variant UCEC-US 11 58980314 58980314 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-B01811 COSM333821 c.194A>T p.Q65L Substitution - Missense 11:59172789-59172789 + LC_S11 COSM1188239 c.1523C>T p.P508L Substitution - Missense 11:59195356-59195356 + 587376 COSM1204685 c.1204C>T p.R402W Substitution - Missense 11:59191158-59191158 + T3064 COSM4679629 c.550delC p.M186fs*12 Deletion - Frameshift 11:59182077-59182077 + ESCC_37 COSM5628882 c.1606G>T p.D536Y Substitution - Missense 11:59199753-59199753 + BD137T COSM5504869 c.1720A>C p.N574H Substitution - Missense 11:59204769-59204769 + C086 COSM5530251 c.93C>T p.F31F Substitution - coding silent 11:59181938-59181938 + ESO-0013 COSM1250786 c.936-2A>G p.? Unknown 11:59188733-59188733 + HT115 COSM2035182 c.740G>A p.R247Q Substitution - Missense 11:59182267-59182267 + LIM2405 COSM2035216 c.1202_1203insC p.G404fs*66 Insertion - Frameshift 11:59195353-59195354 + BD236T COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-BR-6452-01 COSM4034259 c.402A>G p.V134V Substitution - coding silent 11:59181929-59181929 + SNUH_G76_S1 COSM4417524 c.747C>T p.V249V Substitution - coding silent 11:59189229-59189229 + C0029T COSM4165849 c.877C>T p.Q293* Substitution - Nonsense 11:59191149-59191149 + T2389 COSM4679636 c.1185C>A p.I395I Substitution - coding silent 11:59195336-59195336 + YUROC COSM5372900 c.427C>T p.P143S Substitution - Missense 11:59182272-59182272 + PD17981a COSM5767881 c.643C>T p.P215S Substitution - Missense 11:59182170-59182170 + ESCC_25 COSM5626584 c.1171G>A p.E391K Substitution - Missense 11:59191125-59191125 + LC_C6 COSM1188242 c.1335G>T p.W445C Substitution - Missense 11:59204702-59204702 + TCGA-06-0747 COSM2151812 c.878A>G p.N293S Substitution - Missense 11:59182405-59182405 + TCGA-18-5595-01 COSM689590 c.251C>T p.S84F Substitution - Missense 11:59182096-59182096 + BD135T COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-AA-A01R-01 COSM5122789 c.292G>A p.V98M Substitution - Missense 11:59182137-59182137 + LUAD-5V8LT COSM401208 c.649G>T p.G217W Substitution - Missense 11:59188766-59188766 + TCGA-G4-6586-01 COSM1354973 c.847A>C p.T283P Substitution - Missense 11:59191119-59191119 + TCGA-FU-A5XV-01 COSM4844196 c.714G>A p.L238L Substitution - coding silent 11:59189196-59189196 + TCGA-A6-6781-01 COSM1354970 c.1081G>A p.V361I Substitution - Missense 11:59189245-59189245 + TCGA-BR-6452-01 COSM4034260 c.84A>G p.V28V Substitution - coding silent 11:59181929-59181929 + TCGA-AP-A056-01 COSM928979 c.55G>A p.D19N Substitution - Missense 11:59181900-59181900 + SW48 COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + TCGA-BH-A18J-01 COSM429329 c.330G>A p.V110V Substitution - coding silent 11:59182175-59182175 + T3174 COSM4679628 c.128G>A p.R43H Substitution - Missense 11:59181973-59181973 + TCGA-06-0747-01 COSM2151812 c.878A>G p.N293S Substitution - Missense 11:59182405-59182405 + ESCC_25 COSM5626585 c.853G>A p.E285K Substitution - Missense 11:59191125-59191125 + TCGA-61-1722-01 COSM1322340 c.652C>G p.R218G Substitution - Missense 11:59182179-59182179 + TCGA-G4-6586-01 COSM1354972 c.1165A>C p.T389P Substitution - Missense 11:59191119-59191119 + TCGA-BR-4361-01 COSM4034274 c.1372A>G p.T458A Substitution - Missense 11:59204739-59204739 + ZZUFHECRKL-G067T COSM5438584 c.728C>A p.T243K Substitution - Missense 11:59182255-59182255 + Gp5D COSM2035157 c.219C>G p.L73L Substitution - coding silent 11:59181746-59181746 + SJHGG034_D COSM4970352 c.652C>T p.R218C Substitution - Missense 11:59182179-59182179 + TCGA-AA-3713-01 COSM1354968 c.629G>T p.G210V Substitution - Missense 11:59182156-59182156 + BD165T COSM5506365 c.1702T>C p.S568P Substitution - Missense 11:59204751-59204751 + T3724 COSM4679634 c.1057-2A>G p.? Unknown 11:59195206-59195206 + LC_S19 COSM1188243 c.1780G>T p.A594S Substitution - Missense 11:59204829-59204829 + PT44 COSM5926764 c.873T>A p.Y291* Substitution - Nonsense 11:59191145-59191145 + TCGA-61-1722-01 COSM1322341 c.334C>G p.R112G Substitution - Missense 11:59182179-59182179 + TCGA-AB-2945-03 COSM1317291 c.357G>A p.K119K Substitution - coding silent 11:59181884-59181884 + CSCC-31-T COSM4458309 c.762C>T p.P254P Substitution - coding silent 11:59189244-59189244 + 2 COSM5731930 c.421C>T p.R141* Substitution - Nonsense 11:59182266-59182266 + BD165T COSM5506366 c.1384T>C p.S462P Substitution - Missense 11:59204751-59204751 + TCGA-BR-4362-01 COSM4034268 c.652T>G p.S218A Substitution - Missense 11:59188769-59188769 + TCGA-CD-A4MG-01 COSM4034272 c.1330G>C p.A444P Substitution - Missense 11:59204697-59204697 + ESCC_29 COSM5627433 c.577C>T p.Q193* Substitution - Nonsense 11:59182104-59182104 + PT23_1 COSM5902968 c.1625A>T p.K542I Substitution - Missense 11:59199772-59199772 + TCGA-DI-A0WH-01 COSM928989 c.1371C>T p.S457S Substitution - coding silent 11:59204738-59204738 + HCC56T COSM3666436 c.1102T>G p.S368A Substitution - Missense 11:59189266-59189266 + TCGA-G9-6354-01 COSM3782646 c.913A>G p.I305V Substitution - Missense 11:59192107-59192107 + BD112T COSM5490854 c.1710C>T p.T570T Substitution - coding silent 11:59204759-59204759 + T3724 COSM2035216 c.1202_1203insC p.G404fs*66 Insertion - Frameshift 11:59195353-59195354 + CSCC-31-T COSM4516059 c.1231_1232CC>TT p.P411L Substitution - Missense 11:59199696-59199697 + TCGA-AA-3811-01 COSM5108593 c.1308+2T>C p.? Unknown 11:59199775-59199775 + BD72T COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + YUKAT COSM5372897 c.734C>T p.T245I Substitution - Missense 11:59182261-59182261 + SNU-175 COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-A2-A25B-01 COSM1322342 c.292G>A p.D98N Substitution - Missense 11:59181819-59181819 + CSCC-44-T COSM4525045 c.1304G>T p.G435V Substitution - Missense 11:59192180-59192180 + T3021 COSM4679637 c.1520T>C p.I507T Substitution - Missense 11:59195353-59195353 + OSCC-GB_00350111 COSM3710197 c.414C>A p.N138K Substitution - Missense 11:59181941-59181941 + 86784 COSM95834 c.180G>C p.G60G Substitution - coding silent 11:59182025-59182025 + OSCC-GB_00730111 COSM4889071 c.136C>T p.R46C Substitution - Missense 11:59181981-59181981 + I2L-P7-Tumor-Organoid COSM2035184 c.757G>A p.A253T Substitution - Missense 11:59182284-59182284 + 35T COSM3710197 c.414C>A p.N138K Substitution - Missense 11:59181941-59181941 + CSCC-27-T COSM4526896 c.1426G>A p.G476S Substitution - Missense 11:59195259-59195259 + TCGA-NH-A5IV-01 COSM5182175 c.958C>T p.Q320* Substitution - Nonsense 11:59192152-59192152 + TCGA-60-2698-01 COSM689584 c.1347C>G p.L449L Substitution - coding silent 11:59204714-59204714 + TCGA-AP-A051-01 COSM928987 c.1255G>A p.A419T Substitution - Missense 11:59199720-59199720 + C0029T COSM4165848 c.1195C>T p.Q399* Substitution - Nonsense 11:59191149-59191149 + PTC-7C COSM4145928 c.210G>T p.T70T Substitution - coding silent 11:59172805-59172805 + TCGA-FS-A1ZK-06 COSM3450195 c.1522C>T p.P508S Substitution - Missense 11:59195355-59195355 + TCGA-IN-7806-01 COSM4034261 c.457G>A p.V153I Substitution - Missense 11:59181984-59181984 + T55 COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-AP-A051-01 COSM928986 c.1573G>A p.A525T Substitution - Missense 11:59199720-59199720 + TCGA-A6-5661-01 COSM5088744 c.347C>T p.P116L Substitution - Missense 11:59182192-59182192 + CSCC-19-T COSM4528619 c.1233G>A p.P411P Substitution - coding silent 11:59199698-59199698 + CSCC-19-T COSM4528618 c.1551G>A p.P517P Substitution - coding silent 11:59199698-59199698 + T3658 COSM4679637 c.1520T>C p.I507T Substitution - Missense 11:59195353-59195353 + SNU-C4 COSM2035215 c.1520_1521insC p.G510fs*66 Insertion - Frameshift 11:59195353-59195354 + TCGA-D5-6540-01 COSM2035202 c.1182delA p.K396fs*34 Deletion - Frameshift 11:59191136-59191136 + Pat_15_B COSM5838880 c.530A>G p.K177R Substitution - Missense 11:59182375-59182375 + T55 COSM4679624 c.233G>A p.R78H Substitution - Missense 11:59181760-59181760 + ESO-0013 COSM1250787 c.618-2A>G p.? Unknown 11:59188733-59188733 + TCGA-GC-A3RD-01 COSM3791619 c.1415G>C p.G472A Substitution - Missense 11:59195248-59195248 + TCGA-HU-A4H3-01 COSM4034264 c.212G>A p.S71N Substitution - Missense 11:59182057-59182057 + PT44 COSM5926763 c.1191T>A p.Y397* Substitution - Nonsense 11:59191145-59191145 + T3064 COSM4679630 c.232delC p.M80fs*12 Deletion - Frameshift 11:59182077-59182077 + TCGA-BP-5178-01 COSM467036 c.232C>T p.R78C Substitution - Missense 11:59181759-59181759 + CHEWS024 COSM4574507 c.315C>T p.Y105Y Substitution - coding silent 11:59181842-59181842 + T3091 COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + 1946219 COSM94147 c.433A>G p.K145E Substitution - Missense 11:59182278-59182278 + T3094 COSM4679623 c.152G>A p.S51N Substitution - Missense 11:59172747-59172747 + TCGA-AP-A0LE-01 COSM928982 c.673G>T p.G225* Substitution - Nonsense 11:59182200-59182200 + TCGA-IN-7806-01 COSM4034262 c.139G>A p.V47I Substitution - Missense 11:59181984-59181984 + CSCC-31-T COSM4516058 c.1549_1550CC>TT p.P517L Substitution - Missense 11:59199696-59199697 + TCGA-D9-A1JX-06 COSM3450191 c.400G>A p.V134I Substitution - Missense 11:59181927-59181927 + BD135T COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-AP-A0LE-01 COSM928983 c.355G>T p.G119* Substitution - Nonsense 11:59182200-59182200 + LC_S11 COSM1188240 c.1205C>T p.P402L Substitution - Missense 11:59195356-59195356 + sysucc-2215T COSM5765593 c.1309C>G p.L437V Substitution - Missense 11:59192185-59192185 + T3024 COSM4679626 c.14T>C p.I5T Substitution - Missense 11:59181859-59181859 + 2521252 COSM5889142 c.278G>A p.W93* Substitution - Nonsense 11:59181805-59181805 + TCGA-FS-A1ZK-06 COSM3450196 c.1204C>T p.P402S Substitution - Missense 11:59195355-59195355 + T3024 COSM4679625 c.332T>C p.I111T Substitution - Missense 11:59181859-59181859 + AOCS-132-1-6 COSM928989 c.1371C>T p.S457S Substitution - coding silent 11:59204738-59204738 + YUROC COSM5372899 c.745C>T p.P249S Substitution - Missense 11:59182272-59182272 + TCGA-GN-A269-01 COSM3450194 c.1155C>T p.S385S Substitution - coding silent 11:59195306-59195306 + TCGA-BR-8368-01 COSM4034266 c.438C>T p.T146T Substitution - coding silent 11:59182283-59182283 + TCGA-AZ-6598-01 COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + Pat_15_A COSM5838879 c.848A>G p.K283R Substitution - Missense 11:59182375-59182375 + OSCC-GB_01360111 COSM5955513 c.898G>C p.D300H Substitution - Missense 11:59191170-59191170 + LIM1215 COSM2035202 c.1182delA p.K396fs*34 Deletion - Frameshift 11:59191136-59191136 + HN_62814 COSM122728 c.535G>A p.G179R Substitution - Missense 11:59182380-59182380 + TCGA-BR-6458-01 COSM4034269 c.1407C>T p.T469T Substitution - coding silent 11:59195240-59195240 + TCGA-FU-A3HZ-01 COSM4840079 c.1404G>T p.K468N Substitution - Missense 11:59195237-59195237 + Pat_15_A COSM5838880 c.530A>G p.K177R Substitution - Missense 11:59182375-59182375 + 2492729 COSM5729758 c.1231C>T p.P411S Substitution - Missense 11:59199696-59199696 + LIM1215 COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + T3091 COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-AC-A3W5-01 COSM3809654 c.486G>T p.G162G Substitution - coding silent 11:59182331-59182331 + 1946219 COSM1197697 c.751A>G p.K251E Substitution - Missense 11:59182278-59182278 + SNU-C4 COSM2035216 c.1202_1203insC p.G404fs*66 Insertion - Frameshift 11:59195353-59195354 + T2944 COSM4679632 c.457C>T p.R153W Substitution - Missense 11:59182302-59182302 + SNU-175 COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + CSCC-27-T COSM4470526 c.1347C>T p.L449L Substitution - coding silent 11:59204714-59204714 + T3174 COSM4679627 c.446G>A p.R149H Substitution - Missense 11:59181973-59181973 + TCGA-A6-6781-01 COSM1354971 c.763G>A p.V255I Substitution - Missense 11:59189245-59189245 + TCGA-AA-3663-01 COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + ccRCC-4 COSM1661599 c.1204C>G p.P402A Substitution - Missense 11:59195355-59195355 + TCGA-B0-5083-01 COSM1322342 c.292G>A p.D98N Substitution - Missense 11:59181819-59181819 + ESCC_29 COSM5627434 c.259C>T p.Q87* Substitution - Nonsense 11:59182104-59182104 + KPOPBR-07-T COSM5964058 c.339G>C p.K113N Substitution - Missense 11:59182184-59182184 + TCGA-A6-5661-01 COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + TCGA-B5-A0JN-01 COSM928984 c.1570A>C p.S524R Substitution - Missense 11:59199717-59199717 + Br27P COSM54376 c.286G>A p.A96T Substitution - Missense 11:59182131-59182131 + 35T COSM3710198 c.96C>A p.N32K Substitution - Missense 11:59181941-59181941 + PD17981a COSM5767882 c.325C>T p.P109S Substitution - Missense 11:59182170-59182170 + 8068588 COSM4388848 c.445C>T p.R149C Substitution - Missense 11:59181972-59181972 + TCGA-AD-6964-01 COSM2035202 c.1182delA p.K396fs*34 Deletion - Frameshift 11:59191136-59191136 + HCC56 COSM3666436 c.1102T>G p.S368A Substitution - Missense 11:59189266-59189266 + T2944 COSM4679631 c.775C>T p.R259W Substitution - Missense 11:59182302-59182302 + TCGA-AA-3663-01 COSM1354974 c.1521delC p.G510fs*35 Deletion - Frameshift 11:59195354-59195354 + OSCC-GB_01360111 COSM5955512 c.1216G>C p.D406H Substitution - Missense 11:59191170-59191170 + SW48 COSM2035202 c.1182delA p.K396fs*34 Deletion - Frameshift 11:59191136-59191136 + TCGA-4N-A93T-01 COSM2035171 c.153C>T p.L51L Substitution - coding silent 11:59181998-59181998 + pfg122T COSM4747331 c.1075delC p.V361fs*6 Deletion - Frameshift 11:59189239-59189239 + TCGA-HU-A4H3-01 COSM4034263 c.530G>A p.S177N Substitution - Missense 11:59182057-59182057 + 587376 COSM1204686 c.886C>T p.R296W Substitution - Missense 11:59191158-59191158 + TCGA-D8-A1J8-01 COSM3809656 c.1324C>T p.L442F Substitution - Missense 11:59204691-59204691 + HT115 COSM2035183 c.422G>A p.R141Q Substitution - Missense 11:59182267-59182267 + T55 COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + BD137T COSM5504870 c.1402A>C p.N468H Substitution - Missense 11:59204769-59204769 + SJHGG034_D COSM4970353 c.334C>T p.R112C Substitution - Missense 11:59182179-59182179 + PT23_1 COSM5902969 c.1307A>T p.K436I Substitution - Missense 11:59199772-59199772 + ESCC_37 COSM5628883 c.1288G>T p.D430Y Substitution - Missense 11:59199753-59199753 + PT08_2 COSM5894525 c.247C>T p.P83S Substitution - Missense 11:59181774-59181774 + pfg122T COSM4747332 c.757delC p.V255fs*6 Deletion - Frameshift 11:59189239-59189239 + 112527 COSM94147 c.433A>G p.K145E Substitution - Missense 11:59182278-59182278 + TCGA-BH-A18J-01 COSM429328 c.648G>A p.V216V Substitution - coding silent 11:59182175-59182175 + TCGA-B5-A0JN-01 COSM928985 c.1252A>C p.S418R Substitution - Missense 11:59199717-59199717 + LU-A08-43 COSM400332 c.237C>A p.P79P Substitution - coding silent 11:59182082-59182082 + PT13 COSM5896113 c.880C>T p.R294C Substitution - Missense 11:59182407-59182407 + WA16 COSM239661 c.133C>T p.R45C Substitution - Missense 11:59181978-59181978 + MO_1184 COSM5561317 c.291C>T p.N97N Substitution - coding silent 11:59181818-59181818 + TCGA-NH-A5IV-01 COSM5182173 c.143G>A p.R48H Substitution - Missense 11:59181988-59181988 + HCC56 COSM3666437 c.784T>G p.S262A Substitution - Missense 11:59189266-59189266 + T3021 COSM4679638 c.1202T>C p.I401T Substitution - Missense 11:59195353-59195353 + TCGA-CD-A4MG-01 COSM4034271 c.1648G>C p.A550P Substitution - Missense 11:59204697-59204697 + 93 COSM5015007 c.1147C>A p.P383T Substitution - Missense 11:59195298-59195298 + TCGA-06-6699-01 COSM3397910 c.446C>T p.S149L Substitution - Missense 11:59182291-59182291 + TCGA-BR-4362-01 COSM4034267 c.970T>G p.S324A Substitution - Missense 11:59188769-59188769 + TCGA-CK-4951-01 COSM5147526 c.1254C>T p.S418S Substitution - coding silent 11:59199719-59199719 + TCGA-BR-6458-01 COSM4034270 c.1089C>T p.T363T Substitution - coding silent 11:59195240-59195240 + TCGA-AB-2945-03 COSM1317292 c.39G>A p.K13K Substitution - coding silent 11:59181884-59181884 + C086 COSM5530250 c.411C>T p.F137F Substitution - coding silent 11:59181938-59181938 + S01170 COSM5667002 c.33A>G p.E11E Substitution - coding silent 11:59172628-59172628 + ZZUFHECRKL-G067T COSM5438585 c.410C>A p.T137K Substitution - Missense 11:59182255-59182255 + TCGA-36-2552-01 COSM1322342 c.292G>A p.D98N Substitution - Missense 11:59181819-59181819 + T3724 COSM4679633 c.1375-2A>G p.? Unknown 11:59195206-59195206 + T2389 COSM4679635 c.1503C>A p.I501I Substitution - coding silent 11:59195336-59195336 + LC_S15 COSM1188238 c.800C>T p.S267F Substitution - Missense 11:59189282-59189282 + TCGA-BR-8368-01 COSM4034265 c.756C>T p.T252T Substitution - coding silent 11:59182283-59182283 + LUAD-5V8LT COSM401209 c.1473G>T p.L491L Substitution - coding silent 11:59204840-59204840 + TCGA-D8-A1J8-01 COSM3809655 c.1642C>T p.L548F Substitution - Missense 11:59204691-59204691 + KPOPBR-07-T COSM5964057 c.657G>C p.K219N Substitution - Missense 11:59182184-59182184 + LC_S19 COSM1188244 c.1462G>T p.A488S Substitution - Missense 11:59204829-59204829 + PT37 COSM5920098 c.1600C>T p.L534F Substitution - Missense 11:59199747-59199747 + TCGA-34-5927-01 COSM689582 c.1498G>C p.A500P Substitution - Missense 11:59204865-59204865 + I2L-P19Tb-Tumor-Organoid COSM2035202 c.1182delA p.K396fs*34 Deletion - Frameshift 11:59191136-59191136 + TCGA-60-2698-01 COSM689583 c.1665C>G p.L555L Substitution - coding silent 11:59204714-59204714 + CSCC-27-T COSM4526897 c.1108G>A p.G370S Substitution - Missense 11:59195259-59195259 + CSCC-31-T COSM4458308 c.1080C>T p.P360P Substitution - coding silent 11:59189244-59189244 + T3658 COSM4679638 c.1202T>C p.I401T Substitution - Missense 11:59195353-59195353 + CSCC-7-T COSM4505292 c.689C>T p.P230L Substitution - Missense 11:59182216-59182216 + 2 COSM5731929 c.739C>T p.R247* Substitution - Nonsense 11:59182266-59182266 + TCGA-EE-A29V-06 COSM3450189 c.292G>C p.D98H Substitution - Missense 11:59181819-59181819 + TCGA-06-6699-01 COSM3397909 c.764C>T p.S255L Substitution - Missense 11:59182291-59182291 + TCGA-D5-6540-01 COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + AOCS-132-1-6 COSM928988 c.1689C>T p.S563S Substitution - coding silent 11:59204738-59204738 + LIM2405 COSM2035215 c.1520_1521insC p.G510fs*66 Insertion - Frameshift 11:59195353-59195354 + 2492729 COSM5729757 c.1549C>T p.P517S Substitution - Missense 11:59199696-59199696 + CSCC-27-T COSM4470525 c.1665C>T p.L555L Substitution - coding silent 11:59204714-59204714 + TCGA-DK-A1AC-01 COSM1298237 c.132G>A p.V44V Substitution - coding silent 11:59172727-59172727 + HF-23896 COSM1197697 c.751A>G p.K251E Substitution - Missense 11:59182278-59182278 + ccRCC-4 COSM1661598 c.1522C>G p.P508A Substitution - Missense 11:59195355-59195355 + I2L-P19Tb-Tumor-Organoid COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + TCGA-06-0747 COSM2151813 c.560A>G p.N187S Substitution - Missense 11:59182405-59182405 + HF-23896 COSM94147 c.433A>G p.K145E Substitution - Missense 11:59182278-59182278 + BD112T COSM5490855 c.1392C>T p.T464T Substitution - coding silent 11:59204759-59204759 + TCGA-AC-A3W5-01 COSM3809653 c.804G>T p.G268G Substitution - coding silent 11:59182331-59182331 + TCGA-GN-A269-01 COSM3450193 c.1473C>T p.S491S Substitution - coding silent 11:59195306-59195306 + NB-2074 COSM1284659 c.1073G>A p.C358Y Substitution - Missense 11:59195224-59195224 + NB-2074 COSM1284658 c.1391G>A p.C464Y Substitution - Missense 11:59195224-59195224 + Gp2D COSM2035157 c.219C>G p.L73L Substitution - coding silent 11:59181746-59181746 + TCGA-AZ-6598-01 COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + T3116 COSM4679640 c.1397T>A p.I466N Substitution - Missense 11:59204764-59204764 + 93 COSM5015006 c.1465C>A p.P489T Substitution - Missense 11:59195298-59195298 + LC_S15 COSM1188237 c.1118C>T p.S373F Substitution - Missense 11:59189282-59189282 + HX23T COSM3666435 c.15G>C p.S5S Substitution - coding silent 11:59172610-59172610 + TCGA-AP-A056-01 COSM928978 c.373G>A p.D125N Substitution - Missense 11:59181900-59181900 + TCGA-G9-6354-01 COSM3782645 c.1231A>G p.I411V Substitution - Missense 11:59192107-59192107 + LC_C6 COSM1188241 c.1653G>T p.W551C Substitution - Missense 11:59204702-59204702 + OSCC-GB_00350111 COSM3710198 c.96C>A p.N32K Substitution - Missense 11:59181941-59181941 + TCGA-FU-A5XV-01 COSM4844195 c.1032G>A p.L344L Substitution - coding silent 11:59189196-59189196 + TCGA-AA-3713-01 COSM1354969 c.311G>T p.G104V Substitution - Missense 11:59182156-59182156 + BD72T COSM2035202 c.1182delA p.K396fs*34 Deletion - Frameshift 11:59191136-59191136 + ESCC_159 COSM5647005 c.106G>T p.A36S Substitution - Missense 11:59172701-59172701 + TCGA-AA-A024-01 COSM2035216 c.1202_1203insC p.G404fs*66 Insertion - Frameshift 11:59195353-59195354 + I2L-P7-Tumor-Organoid COSM2035185 c.439G>A p.A147T Substitution - Missense 11:59182284-59182284 + OSCC-GB_00730111 COSM4889070 c.454C>T p.R152C Substitution - Missense 11:59181981-59181981 + TCGA-A5-A0R8-01 COSM928981 c.214C>T p.P72S Substitution - Missense 11:59182059-59182059 + TCGA-06-0747-01 COSM2151813 c.560A>G p.N187S Substitution - Missense 11:59182405-59182405 + TCGA-18-5595-01 COSM689589 c.569C>T p.S190F Substitution - Missense 11:59182096-59182096 + TCGA-34-5927-01 COSM689581 c.1816G>C p.A606P Substitution - Missense 11:59204865-59204865 + T3116 COSM4679639 c.1715T>A p.I572N Substitution - Missense 11:59204764-59204764 + CSCC-44-T COSM4525046 c.986G>T p.G329V Substitution - Missense 11:59192180-59192180 + SNUH_G76_S1 COSM4417523 c.1065C>T p.V355V Substitution - coding silent 11:59189229-59189229 + TCGA-D9-A1JX-06 COSM3450192 c.82G>A p.V28I Substitution - Missense 11:59181927-59181927 + PT51 COSM5938281 c.716C>T p.P239L Substitution - Missense 11:59189198-59189198 + PT51 COSM5938280 c.1034C>T p.P345L Substitution - Missense 11:59189198-59189198 + CSCC-27-T COSM4504666 c.671C>T p.P224L Substitution - Missense 11:59182198-59182198 + 2238 COSM1644557 c.204A>T p.Q68H Substitution - Missense 11:59172799-59172799 + TCGA-HU-A4H3-01 COSM3450192 c.82G>A p.V28I Substitution - Missense 11:59181927-59181927 + TCGA-AA-3710-01 COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + CSCC-7-T COSM4505293 c.371C>T p.P124L Substitution - Missense 11:59182216-59182216 + CSCC-27-T COSM4504667 c.353C>T p.P118L Substitution - Missense 11:59182198-59182198 + TCGA-A5-A0R8-01 COSM928980 c.532C>T p.P178S Substitution - Missense 11:59182059-59182059 + YUKAT COSM5372898 c.416C>T p.T139I Substitution - Missense 11:59182261-59182261 + Pat_15_B COSM5838879 c.848A>G p.K283R Substitution - Missense 11:59182375-59182375 + TCGA-BR-4361-01 COSM4034273 c.1690A>G p.T564A Substitution - Missense 11:59204739-59204739 + TCGA-AA-3986-01 COSM297945 c.1393G>A p.V465I Substitution - Missense 11:59204760-59204760 + YUKAT COSM5372896 c.251C>T p.S84F Substitution - Missense 11:59181778-59181778 + TCGA-AA-3672-01 COSM266430 c.911C>T p.T304I Substitution - Missense 11:59192105-59192105 + TCGA-DI-A0WH-01 COSM928988 c.1689C>T p.S563S Substitution - coding silent 11:59204738-59204738 + TCGA-EE-A29E-06 COSM3450190 c.302C>T p.S101F Substitution - Missense 11:59181829-59181829 + HCC56T COSM3666437 c.784T>G p.S262A Substitution - Missense 11:59189266-59189266 + BD236T COSM1354975 c.1203delC p.G404fs*35 Deletion - Frameshift 11:59195354-59195354 + sysucc-2215T COSM5765594 c.991C>G p.L331V Substitution - Missense 11:59192185-59192185 + TCGA-FU-A3HZ-01 COSM4840080 c.1086G>T p.K362N Substitution - Missense 11:59195237-59195237 + TCGA-AD-6964-01 COSM293537 c.864delA p.K290fs*34 Deletion - Frameshift 11:59191136-59191136 + T3724 COSM2035215 c.1520_1521insC p.G510fs*66 Insertion - Frameshift 11:59195353-59195354 + TCGA-A6-6780-01 COSM4504667 c.353C>T p.P118L Substitution - Missense 11:59182198-59182198 + 8068588 COSM4388849 c.127C>T p.R43C Substitution - Missense 11:59181972-59181972 + PT13 COSM5896114 c.562C>T p.R188C Substitution - Missense 11:59182407-59182407 + TCGA-HU-A4H3-01 COSM3450191 c.400G>A p.V134I Substitution - Missense 11:59181927-59181927 + TCGA-GC-A3RD-01 COSM3791620 c.1097G>C p.G366A Substitution - Missense 11:59195248-59195248 + PT37 COSM5920099 c.1282C>T p.L428F Substitution - Missense 11:59199747-59199747 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.523696 11q12.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I411V c.1231A>G 11 58959580 PRAD A G Missense p.N293S c.878A>G 11 58949878 CM A G Missense p.N293S c.878A>G 11 58949878 GBM A G Missense p.N296S c.887A>G 11 58949887 CM A G SpliceAcceptorSNV . c.936-2A>G 11 58956206 ESCA A T Synonymous p.T165T c.495A>T 11 58949495 LUAD - C Frameshift p.N374Qfs*15 c.1119dupC 11 58956755 HNSC C T Missense p.P178S c.532C>T 11 58949532 UCEC C T Missense p.P254S c.760C>T 11 58949760 CM C T Missense p.P508S c.1522C>T 11 58962828 CM C T Missense p.P87S c.259C>T 11 58949259 CM C T Missense p.R154C c.460C>T 11 58949460 BRCA C T Missense p.R77C c.229C>T 11 58949229 CM C T Missense p.R77C c.229C>T 11 58949229 MM C T Missense p.S190F c.569C>T 11 58949569 LUSC C T Missense p.S255L c.764C>T 11 58949764 GBM C T Synonymous p.N97N c.291C>T 11 58949291 HNSC C T Synonymous p.P509P c.1527C>T 11 58962833 BRCA C T Synonymous p.S491S c.1473C>T 11 58962779 CM C T Synonymous p.T469T c.1407C>T 11 58962713 STAD G A IntronicSNV . c.1627-542G>A 11 58971607 CLL G A Missense p.A202T c.604G>A 11 58949604 GBM G A Missense p.A605T c.1813G>A 11 58972335 HNSC G A Missense p.C464Y c.1391G>A 11 58962697 NB G A Missense p.D98N c.292G>A 11 58949292 BRCA G A Missense p.E575K c.1723G>A 11 58972245 HNSC G A Missense p.G285R c.853G>A 11 58949853 HNSC G A Missense p.G588D c.1763G>A 11 58972285 CM G A Missense p.V134I c.400G>A 11 58949400 CM G A Missense p.V571I c.1711G>A 11 58972233 COREAD G A Synonymous p.K119K c.357G>A 11 58949357 AML G A Synonymous p.V216V c.648G>A 11 58949648 BRCA G C Missense p.A606P c.1816G>C 11 58972338 LUSC G C Missense p.D98H c.292G>C 11 58949292 CM G T Missense p.Q172H c.516G>T 11 58949516 LUAD G T Nonsense p.G225* c.673G>T 11 58949673 UCEC