Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 13 115030673 115030673 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr13:115030673C>T c.1561C>T c.(1561-1563)Cat>Tat p.H521Y BLCA 13 115008757 115008757 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr13:115008757C>T c.567C>T c.(565-567)ccC>ccT p.P189P BLCA 13 115010387 115010387 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr13:115010387C>T c.790C>T c.(790-792)Cat>Tat p.H264Y BLCA 13 115030646 115030646 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr13:115030646G>A c.1534G>A c.(1534-1536)Gat>Aat p.D512N BLCA 13 115037882 115037882 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr13:115037882G>C c.1827G>C c.(1825-1827)atG>atC p.M609I BLCA 13 115037904 115037904 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr13:115037904G>C c.1849G>C c.(1849-1851)Gac>Cac p.D617H BRCA 13 115002150 115002150 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr13:115002150G>C c.79G>C c.(79-81)Gat>Cat p.D27H BRCA 13 115016085 115016085 + Missense_Mutation SNP G G T TCGA-GM-A2DL-01A-11D-A18P-09 TCGA-GM-A2DL-10C-01D-A18P-09 g.chr13:115016085G>T c.1033G>T c.(1033-1035)Gcg>Tcg p.A345S BRCA 13 115037883 115037883 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:115037883A>C c.1828A>C c.(1828-1830)Atg>Ctg p.M610L CESC 13 115011474 115011474 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr13:115011474G>T c.e10-1 COAD 13 115008794 115008794 + Missense_Mutation SNP C C T TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr13:115008794C>T c.604C>T c.(604-606)Cgt>Tgt p.R202C COAD 13 115028411 115028411 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr13:115028411C>T c.1434C>T c.(1432-1434)aaC>aaT p.N478N COAD 13 115030682 115030682 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:115030682G>A c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K COAD 13 115037692 115037692 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:115037692A>G c.1637A>G c.(1636-1638)gAc>gGc p.D546G COAD 13 115037740 115037740 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:115037740C>T c.1685C>T c.(1684-1686)cCg>cTg p.P562L COAD 13 115037794 115037794 + Missense_Mutation SNP T T G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr13:115037794T>G c.1739T>G c.(1738-1740)cTt>cGt p.L580R COADREAD 13 115007715 115007715 + Silent SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr13:115007715C>T c.501C>T c.(499-501)ttC>ttT p.F167F COADREAD 13 115008794 115008794 + Missense_Mutation SNP C C T TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr13:115008794C>T c.604C>T c.(604-606)Cgt>Tgt p.R202C COADREAD 13 115008808 115008808 + Silent SNP G G A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr13:115008808G>A c.618G>A c.(616-618)gaG>gaA p.E206E COADREAD 13 115024835 115024835 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:115024835C>A c.1276C>A c.(1276-1278)Ctt>Att p.L426I COADREAD 13 115028411 115028411 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr13:115028411C>T c.1434C>T c.(1432-1434)aaC>aaT p.N478N COADREAD 13 115030682 115030682 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:115030682G>A c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K COADREAD 13 115037692 115037692 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:115037692A>G c.1637A>G c.(1636-1638)gAc>gGc p.D546G COADREAD 13 115037740 115037740 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:115037740C>T c.1685C>T c.(1684-1686)cCg>cTg p.P562L COADREAD 13 115037794 115037794 + Missense_Mutation SNP T T G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr13:115037794T>G c.1739T>G c.(1738-1740)cTt>cGt p.L580R DLBC 13 115002275 115002275 + Splice_Site SNP A A G TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr13:115002275A>G c.105A>G c.(103-105)gaA>gaG p.E35E DLBC 13 115004951 115004951 + Missense_Mutation SNP A A T TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr13:115004951A>T c.367A>T c.(367-369)Atg>Ttg p.M123L GBMLGG 13 115012436 115012436 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:115012436C>T c.928C>T c.(928-930)Ctc>Ttc p.L310F GBMLGG 13 115016143 115016143 + Missense_Mutation SNP T T C TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr13:115016143T>C c.1091T>C c.(1090-1092)aTg>aCg p.M364T HNSC 13 115002175 115002175 + Splice_Site SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr13:115002175G>T c.e2+1 HNSC 13 115004938 115004938 + Silent SNP C C A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr13:115004938C>A c.354C>A c.(352-354)tcC>tcA p.S118S HNSC 13 115028376 115028376 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr13:115028376T>C c.1399T>C c.(1399-1401)Tac>Cac p.Y467H KIPAN 13 115004884 115004884 + Missense_Mutation SNP T T G TCGA-A3-3376-01A-02D-1421-08 TCGA-A3-3376-11A-01D-1421-08 g.chr13:115004884T>G c.300T>G c.(298-300)aaT>aaG p.N100K KIPAN 13 115007656 115007656 + Missense_Mutation SNP C C A TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr13:115007656C>A c.442C>A c.(442-444)Ctg>Atg p.L148M KIPAN 13 115008769 115008769 + Silent SNP G G T TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr13:115008769G>T c.579G>T c.(577-579)ctG>ctT p.L193L KIPAN 13 115022697 115022697 + Missense_Mutation SNP G G T TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chr13:115022697G>T c.1242G>T c.(1240-1242)caG>caT p.Q414H KIRC 13 115004884 115004884 + Missense_Mutation SNP T T G TCGA-A3-3376-01A-02D-1421-08 TCGA-A3-3376-11A-01D-1421-08 g.chr13:115004884T>G c.300T>G c.(298-300)aaT>aaG p.N100K KIRC 13 115007656 115007656 + Missense_Mutation SNP C C A TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr13:115007656C>A c.442C>A c.(442-444)Ctg>Atg p.L148M KIRP 13 115008769 115008769 + Silent SNP G G T TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr13:115008769G>T c.579G>T c.(577-579)ctG>ctT p.L193L KIRP 13 115022697 115022697 + Missense_Mutation SNP G G T TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chr13:115022697G>T c.1242G>T c.(1240-1242)caG>caT p.Q414H LGG 13 115012436 115012436 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:115012436C>T c.928C>T c.(928-930)Ctc>Ttc p.L310F LGG 13 115016143 115016143 + Missense_Mutation SNP T T C TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr13:115016143T>C c.1091T>C c.(1090-1092)aTg>aCg p.M364T LIHC 13 115002339 115002339 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr13:115002339G>T c.169G>T c.(169-171)Gcc>Tcc p.A57S LUAD 13 115002123 115002123 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr13:115002123C>T c.52C>T c.(52-54)Cag>Tag p.Q18* LUAD 13 115037765 115037765 + Silent SNP A A G TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr13:115037765A>G c.1710A>G c.(1708-1710)gtA>gtG p.V570V LUAD 13 115037862 115037862 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr13:115037862G>A c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K LUAD 13 115037915 115037915 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr13:115037915G>T c.1860G>T c.(1858-1860)acG>acT p.T620T LUSC 13 115009418 115009418 + Missense_Mutation SNP C C A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr13:115009418C>A c.721C>A c.(721-723)Cat>Aat p.H241N OV 13 115011486 115011486 + Missense_Mutation SNP C C G TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr13:115011486C>G c.859C>G c.(859-861)Ctt>Gtt p.L287V OV 13 115030666 115030666 + Missense_Mutation SNP G G C TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 g.chr13:115030666G>C c.1554G>C c.(1552-1554)atG>atC p.M518I PAAD 13 115002285 115002285 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:115002285G>T c.115G>T c.(115-117)Gac>Tac p.D39Y PRAD 13 115016141 115016141 + Silent SNP G G A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 g.chr13:115016141G>A c.1089G>A c.(1087-1089)ctG>ctA p.L363L PRAD 13 115027372 115027372 + Missense_Mutation SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 g.chr13:115027372A>G c.1325A>G c.(1324-1326)gAc>gGc p.D442G READ 13 115007715 115007715 + Silent SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr13:115007715C>T c.501C>T c.(499-501)ttC>ttT p.F167F READ 13 115008808 115008808 + Silent SNP G G A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr13:115008808G>A c.618G>A c.(616-618)gaG>gaA p.E206E READ 13 115024835 115024835 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:115024835C>A c.1276C>A c.(1276-1278)Ctt>Att p.L426I

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 13 115008757 115008757 single base substitution C T downstream_gene_variant BLCA-US 13 115008757 115008757 single base substitution C T synonymous_variant P188P 564C>T BLCA-US 13 115008757 115008757 single base substitution C T synonymous_variant P189P 567C>T BLCA-US 13 115008757 115008757 single base substitution C T synonymous_variant P95P 285C>T BLCA-US 13 115008757 115008757 single base substitution C T upstream_gene_variant BLCA-US 13 115037904 115037904 single base substitution G C exon_variant BLCA-US 13 115037904 115037904 single base substitution G C missense_variant D472H 1414G>C BLCA-US 13 115037904 115037904 single base substitution G C missense_variant D523H 1567G>C BLCA-US 13 115037904 115037904 single base substitution G C missense_variant D616H 1846G>C BLCA-US 13 115037904 115037904 single base substitution G C missense_variant D617H 1849G>C BRCA-EU 13 114996117 114996117 single base substitution G C upstream_gene_variant BRCA-EU 13 114997824 114997824 single base substitution G A upstream_gene_variant BRCA-EU 13 114998212 114998212 single base substitution C T upstream_gene_variant BRCA-EU 13 114999437 114999437 single base substitution G C upstream_gene_variant BRCA-EU 13 115001352 115001352 single base substitution C T intron_variant BRCA-EU 13 115002330 115002330 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 115002330 115002330 single base substitution C G exon_variant BRCA-EU 13 115002330 115002330 single base substitution C G missense_variant H53D 157C>G BRCA-EU 13 115002330 115002330 single base substitution C G missense_variant H54D 160C>G BRCA-EU 13 115002411 115002411 deletion of <=200bp A - intron_variant BRCA-EU 13 115003292 115003292 single base substitution C G intron_variant BRCA-EU 13 115005660 115005660 single base substitution C G intron_variant BRCA-EU 13 115005660 115005660 single base substitution C G upstream_gene_variant BRCA-EU 13 115005846 115005846 single base substitution G A intron_variant BRCA-EU 13 115005846 115005846 single base substitution G A upstream_gene_variant BRCA-EU 13 115007617 115007617 single base substitution C G exon_variant BRCA-EU 13 115007617 115007617 single base substitution C G missense_variant L134V 400C>G BRCA-EU 13 115007617 115007617 single base substitution C G missense_variant L135V 403C>G BRCA-EU 13 115007617 115007617 single base substitution C G missense_variant L41V 121C>G BRCA-EU 13 115007617 115007617 single base substitution C G upstream_gene_variant BRCA-EU 13 115007891 115007891 single base substitution C G exon_variant BRCA-EU 13 115007891 115007891 single base substitution C G intron_variant BRCA-EU 13 115007891 115007891 single base substitution C G upstream_gene_variant BRCA-EU 13 115008152 115008152 single base substitution G T downstream_gene_variant BRCA-EU 13 115008152 115008152 single base substitution G T intron_variant BRCA-EU 13 115008152 115008152 single base substitution G T upstream_gene_variant BRCA-EU 13 115009063 115009063 single base substitution G A downstream_gene_variant BRCA-EU 13 115009063 115009063 single base substitution G A intron_variant BRCA-EU 13 115009063 115009063 single base substitution G A upstream_gene_variant BRCA-EU 13 115009566 115009566 single base substitution A G downstream_gene_variant BRCA-EU 13 115009566 115009566 single base substitution A G intron_variant BRCA-EU 13 115009566 115009566 single base substitution A G upstream_gene_variant BRCA-EU 13 115010452 115010452 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 115010452 115010452 deletion of <=200bp T - intron_variant BRCA-EU 13 115010452 115010452 deletion of <=200bp T - splice_region_variant BRCA-EU 13 115010452 115010452 deletion of <=200bp T - upstream_gene_variant BRCA-EU 13 115010738 115010738 single base substitution C T downstream_gene_variant BRCA-EU 13 115010738 115010738 single base substitution C T intron_variant BRCA-EU 13 115010738 115010738 single base substitution C T upstream_gene_variant BRCA-EU 13 115011343 115011343 single base substitution T C downstream_gene_variant BRCA-EU 13 115011343 115011343 single base substitution T C exon_variant BRCA-EU 13 115011343 115011343 single base substitution T C intron_variant BRCA-EU 13 115011908 115011908 single base substitution G A downstream_gene_variant BRCA-EU 13 115011908 115011908 single base substitution G A intron_variant BRCA-EU 13 115013847 115013847 single base substitution C G downstream_gene_variant BRCA-EU 13 115013847 115013847 single base substitution C G intron_variant BRCA-EU 13 115013983 115013983 single base substitution C G downstream_gene_variant BRCA-EU 13 115013983 115013983 single base substitution C G intron_variant BRCA-EU 13 115014527 115014527 single base substitution C G downstream_gene_variant BRCA-EU 13 115014527 115014527 single base substitution C G intron_variant BRCA-EU 13 115015792 115015792 single base substitution A G downstream_gene_variant BRCA-EU 13 115015792 115015792 single base substitution A G intron_variant BRCA-EU 13 115017204 115017204 single base substitution G C downstream_gene_variant BRCA-EU 13 115017204 115017204 single base substitution G C intron_variant BRCA-EU 13 115017849 115017849 single base substitution T C intron_variant BRCA-EU 13 115019258 115019258 single base substitution A G intron_variant BRCA-EU 13 115020106 115020106 deletion of <=200bp A - intron_variant BRCA-EU 13 115020111 115020111 single base substitution C T intron_variant BRCA-EU 13 115020353 115020353 single base substitution C T intron_variant BRCA-EU 13 115022658 115022658 single base substitution C G exon_variant BRCA-EU 13 115022658 115022658 single base substitution C G intron_variant BRCA-EU 13 115022658 115022658 single base substitution C G missense_variant D307E 921C>G BRCA-EU 13 115022658 115022658 single base substitution C G missense_variant D400E 1200C>G BRCA-EU 13 115022658 115022658 single base substitution C G missense_variant D401E 1203C>G BRCA-EU 13 115024327 115024327 single base substitution C G intron_variant BRCA-EU 13 115024371 115024371 single base substitution G C intron_variant BRCA-EU 13 115026304 115026304 single base substitution A T intron_variant BRCA-EU 13 115026304 115026304 single base substitution A T upstream_gene_variant BRCA-EU 13 115028059 115028059 single base substitution G C intron_variant BRCA-EU 13 115028059 115028059 single base substitution G C upstream_gene_variant BRCA-EU 13 115029177 115029177 single base substitution C G downstream_gene_variant BRCA-EU 13 115029177 115029177 single base substitution C G intron_variant BRCA-EU 13 115029177 115029177 single base substitution C G upstream_gene_variant BRCA-EU 13 115029214 115029215 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 13 115029214 115029215 deletion of <=200bp CT - intron_variant BRCA-EU 13 115029214 115029215 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 13 115029496 115029496 single base substitution G A downstream_gene_variant BRCA-EU 13 115029496 115029496 single base substitution G A intron_variant BRCA-EU 13 115029496 115029496 single base substitution G A upstream_gene_variant BRCA-EU 13 115030517 115030517 single base substitution G T downstream_gene_variant BRCA-EU 13 115030517 115030517 single base substitution G T exon_variant BRCA-EU 13 115030517 115030517 single base substitution G T intron_variant BRCA-EU 13 115030518 115030518 single base substitution G T downstream_gene_variant BRCA-EU 13 115030518 115030518 single base substitution G T exon_variant BRCA-EU 13 115030518 115030518 single base substitution G T intron_variant BRCA-EU 13 115031392 115031392 single base substitution G T downstream_gene_variant BRCA-EU 13 115031392 115031392 single base substitution G T intron_variant BRCA-EU 13 115031721 115031721 single base substitution A G downstream_gene_variant BRCA-EU 13 115031721 115031721 single base substitution A G intron_variant BRCA-EU 13 115032658 115032658 single base substitution A G downstream_gene_variant BRCA-EU 13 115032658 115032658 single base substitution A G intron_variant BRCA-EU 13 115033693 115033693 single base substitution G C intron_variant BRCA-EU 13 115034190 115034190 single base substitution G T intron_variant BRCA-EU 13 115035128 115035128 single base substitution G A intron_variant BRCA-EU 13 115036557 115036557 single base substitution C T intron_variant BRCA-EU 13 115036649 115036649 single base substitution G C intron_variant BRCA-EU 13 115036959 115036959 deletion of <=200bp T - intron_variant BRCA-EU 13 115038160 115038160 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 13 115038160 115038160 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 115038514 115038514 single base substitution G C downstream_gene_variant BRCA-EU 13 115038684 115038684 single base substitution C G downstream_gene_variant BRCA-EU 13 115038994 115038994 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 115038994 115038994 insertion of <=200bp - A downstream_gene_variant BRCA-EU 13 115040249 115040249 single base substitution G C downstream_gene_variant BRCA-EU 13 115041160 115041160 single base substitution C T downstream_gene_variant BRCA-EU 13 115041766 115041766 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 115041905 115041905 single base substitution C G downstream_gene_variant BRCA-EU 13 115041955 115041955 single base substitution C T downstream_gene_variant BRCA-FR 13 115017849 115017849 single base substitution T C intron_variant BRCA-FR 13 115022494 115022494 single base substitution T C intron_variant BRCA-FR 13 115029496 115029496 single base substitution G A downstream_gene_variant BRCA-FR 13 115029496 115029496 single base substitution G A intron_variant BRCA-FR 13 115029496 115029496 single base substitution G A upstream_gene_variant BRCA-FR 13 115033693 115033693 single base substitution G C intron_variant BRCA-UK 13 114999437 114999437 single base substitution G C upstream_gene_variant BRCA-UK 13 115014527 115014527 single base substitution C G downstream_gene_variant BRCA-UK 13 115014527 115014527 single base substitution C G intron_variant BRCA-UK 13 115015954 115015954 single base substitution G A downstream_gene_variant BRCA-UK 13 115015954 115015954 single base substitution G A intron_variant BRCA-UK 13 115017442 115017442 single base substitution C T downstream_gene_variant BRCA-UK 13 115017442 115017442 single base substitution C T intron_variant BRCA-UK 13 115024371 115024371 single base substitution G C intron_variant BRCA-US 13 115002150 115002150 single base substitution G C 5_prime_UTR_variant BRCA-US 13 115002150 115002150 single base substitution G C exon_variant BRCA-US 13 115002150 115002150 single base substitution G C missense_variant D27H 79G>C BRCA-US 13 115011252 115011252 single base substitution C T downstream_gene_variant BRCA-US 13 115011252 115011252 single base substitution C T exon_variant BRCA-US 13 115011252 115011252 single base substitution C T intron_variant BRCA-US 13 115016085 115016085 single base substitution G T downstream_gene_variant BRCA-US 13 115016085 115016085 single base substitution G T exon_variant BRCA-US 13 115016085 115016085 single base substitution G T missense_variant A251S 751G>T BRCA-US 13 115016085 115016085 single base substitution G T missense_variant A344S 1030G>T BRCA-US 13 115016085 115016085 single base substitution G T missense_variant A345S 1033G>T BRCA-US 13 115037883 115037883 single base substitution A C exon_variant BRCA-US 13 115037883 115037883 single base substitution A C missense_variant M465L 1393A>C BRCA-US 13 115037883 115037883 single base substitution A C missense_variant M516L 1546A>C BRCA-US 13 115037883 115037883 single base substitution A C missense_variant M609L 1825A>C BRCA-US 13 115037883 115037883 single base substitution A C missense_variant M610L 1828A>C BTCA-JP 13 115004556 115004576 deletion of <=200bp GCATCTCTTAAATATGTGTGA - intron_variant BTCA-JP 13 115004889 115004889 single base substitution G C exon_variant BTCA-JP 13 115004889 115004889 single base substitution G C missense_variant R101T 302G>C BTCA-JP 13 115004889 115004889 single base substitution G C missense_variant R102T 305G>C BTCA-JP 13 115004889 115004889 single base substitution G C missense_variant R8T 23G>C BTCA-JP 13 115027484 115027484 single base substitution A T intron_variant BTCA-JP 13 115027484 115027484 single base substitution A T upstream_gene_variant CESC-US 13 115011474 115011474 single base substitution G T downstream_gene_variant CESC-US 13 115011474 115011474 single base substitution G T exon_variant CESC-US 13 115011474 115011474 single base substitution G T splice_acceptor_variant CESC-US 13 115012590 115012590 insertion of <=200bp - T downstream_gene_variant CESC-US 13 115012590 115012590 insertion of <=200bp - T exon_variant CESC-US 13 115012590 115012590 insertion of <=200bp - T intron_variant CESC-US 13 115012591 115012591 deletion of <=200bp T - downstream_gene_variant CESC-US 13 115012591 115012591 deletion of <=200bp T - exon_variant CESC-US 13 115012591 115012591 deletion of <=200bp T - intron_variant CLLE-ES 13 115017135 115017135 single base substitution G C downstream_gene_variant CLLE-ES 13 115017135 115017135 single base substitution G C intron_variant CLLE-ES 13 115017450 115017450 single base substitution G A downstream_gene_variant CLLE-ES 13 115017450 115017450 single base substitution G A intron_variant CLLE-ES 13 115034175 115034175 single base substitution G T intron_variant COAD-US 13 115002305 115002305 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 13 115002305 115002305 single base substitution G A exon_variant COAD-US 13 115002305 115002305 single base substitution G A synonymous_variant Q44Q 132G>A COAD-US 13 115002305 115002305 single base substitution G A synonymous_variant Q45Q 135G>A COAD-US 13 115028411 115028411 single base substitution C T exon_variant COAD-US 13 115028411 115028411 single base substitution C T synonymous_variant N333N 999C>T COAD-US 13 115028411 115028411 single base substitution C T synonymous_variant N384N 1152C>T COAD-US 13 115028411 115028411 single base substitution C T synonymous_variant N477N 1431C>T COAD-US 13 115028411 115028411 single base substitution C T synonymous_variant N478N 1434C>T COAD-US 13 115028411 115028411 single base substitution C T upstream_gene_variant COAD-US 13 115030714 115030714 single base substitution T C downstream_gene_variant COAD-US 13 115030714 115030714 single base substitution T C splice_region_variant COAD-US 13 115037692 115037692 single base substitution A G exon_variant COAD-US 13 115037692 115037692 single base substitution A G missense_variant D401G 1202A>G COAD-US 13 115037692 115037692 single base substitution A G missense_variant D452G 1355A>G COAD-US 13 115037692 115037692 single base substitution A G missense_variant D545G 1634A>G COAD-US 13 115037692 115037692 single base substitution A G missense_variant D546G 1637A>G COAD-US 13 115037794 115037794 single base substitution T G exon_variant COAD-US 13 115037794 115037794 single base substitution T G missense_variant L435R 1304T>G COAD-US 13 115037794 115037794 single base substitution T G missense_variant L486R 1457T>G COAD-US 13 115037794 115037794 single base substitution T G missense_variant L579R 1736T>G COAD-US 13 115037794 115037794 single base substitution T G missense_variant L580R 1739T>G COCA-CN 13 114996585 114996585 single base substitution G C upstream_gene_variant COCA-CN 13 115007773 115007773 single base substitution T G exon_variant COCA-CN 13 115007773 115007773 single base substitution T G intron_variant COCA-CN 13 115007773 115007773 single base substitution T G upstream_gene_variant COCA-CN 13 115010171 115010171 single base substitution G T downstream_gene_variant COCA-CN 13 115010171 115010171 single base substitution G T exon_variant COCA-CN 13 115010171 115010171 single base substitution G T intron_variant COCA-CN 13 115010171 115010171 single base substitution G T upstream_gene_variant COCA-CN 13 115024775 115024775 single base substitution C T intron_variant COCA-CN 13 115024775 115024775 single base substitution C T upstream_gene_variant COCA-CN 13 115037613 115037613 single base substitution G A intron_variant EOPC-DE 13 115004024 115004024 single base substitution T G intron_variant EOPC-DE 13 115017731 115017731 single base substitution A T intron_variant EOPC-DE 13 115017733 115017733 single base substitution G A intron_variant ESAD-UK 13 114995515 114995515 single base substitution G A upstream_gene_variant ESAD-UK 13 114996200 114996200 single base substitution T C upstream_gene_variant ESAD-UK 13 114997278 114997278 single base substitution A G upstream_gene_variant ESAD-UK 13 114997295 114997295 single base substitution G C upstream_gene_variant ESAD-UK 13 114997343 114997343 single base substitution T C upstream_gene_variant ESAD-UK 13 114997877 114997877 single base substitution C A upstream_gene_variant ESAD-UK 13 114999653 114999653 single base substitution G A upstream_gene_variant ESAD-UK 13 114999724 114999724 single base substitution T C upstream_gene_variant ESAD-UK 13 115001170 115001170 single base substitution T C intron_variant ESAD-UK 13 115001877 115001877 single base substitution A G intron_variant ESAD-UK 13 115003616 115003616 single base substitution C T intron_variant ESAD-UK 13 115004382 115004382 single base substitution C G intron_variant ESAD-UK 13 115004636 115004636 single base substitution C A intron_variant ESAD-UK 13 115005039 115005039 single base substitution C G intron_variant ESAD-UK 13 115005039 115005039 single base substitution C G upstream_gene_variant ESAD-UK 13 115005253 115005253 single base substitution C T intron_variant ESAD-UK 13 115005253 115005253 single base substitution C T upstream_gene_variant ESAD-UK 13 115005307 115005307 single base substitution C T intron_variant ESAD-UK 13 115005307 115005307 single base substitution C T upstream_gene_variant ESAD-UK 13 115005343 115005343 single base substitution C G intron_variant ESAD-UK 13 115005343 115005343 single base substitution C G upstream_gene_variant ESAD-UK 13 115005353 115005353 single base substitution C A intron_variant ESAD-UK 13 115005353 115005353 single base substitution C A upstream_gene_variant ESAD-UK 13 115005369 115005369 single base substitution G C intron_variant ESAD-UK 13 115005369 115005369 single base substitution G C upstream_gene_variant ESAD-UK 13 115006024 115006024 single base substitution G T intron_variant ESAD-UK 13 115006024 115006024 single base substitution G T upstream_gene_variant ESAD-UK 13 115006552 115006552 single base substitution C T intron_variant ESAD-UK 13 115006552 115006552 single base substitution C T upstream_gene_variant ESAD-UK 13 115010291 115010291 single base substitution C T downstream_gene_variant ESAD-UK 13 115010291 115010291 single base substitution C T exon_variant ESAD-UK 13 115010291 115010291 single base substitution C T intron_variant ESAD-UK 13 115010291 115010291 single base substitution C T upstream_gene_variant ESAD-UK 13 115010538 115010538 single base substitution G T downstream_gene_variant ESAD-UK 13 115010538 115010538 single base substitution G T intron_variant ESAD-UK 13 115010538 115010538 single base substitution G T upstream_gene_variant ESAD-UK 13 115011681 115011681 single base substitution C A downstream_gene_variant ESAD-UK 13 115011681 115011681 single base substitution C A intron_variant ESAD-UK 13 115013433 115013433 single base substitution C G downstream_gene_variant ESAD-UK 13 115013433 115013433 single base substitution C G intron_variant ESAD-UK 13 115015899 115015899 single base substitution G A downstream_gene_variant ESAD-UK 13 115015899 115015899 single base substitution G A intron_variant ESAD-UK 13 115016480 115016480 single base substitution C T downstream_gene_variant ESAD-UK 13 115016480 115016480 single base substitution C T intron_variant ESAD-UK 13 115016919 115016919 single base substitution T C downstream_gene_variant ESAD-UK 13 115016919 115016919 single base substitution T C intron_variant ESAD-UK 13 115018808 115018808 deletion of <=200bp T - intron_variant ESAD-UK 13 115020693 115020693 single base substitution A T intron_variant ESAD-UK 13 115020780 115020780 single base substitution G C intron_variant ESAD-UK 13 115020829 115020829 single base substitution A G intron_variant ESAD-UK 13 115023181 115023181 single base substitution A C intron_variant ESAD-UK 13 115025774 115025774 single base substitution C T intron_variant ESAD-UK 13 115025774 115025774 single base substitution C T upstream_gene_variant ESAD-UK 13 115029237 115029237 single base substitution C G downstream_gene_variant ESAD-UK 13 115029237 115029237 single base substitution C G intron_variant ESAD-UK 13 115029237 115029237 single base substitution C G upstream_gene_variant ESAD-UK 13 115031095 115031095 single base substitution C G downstream_gene_variant ESAD-UK 13 115031095 115031095 single base substitution C G intron_variant ESAD-UK 13 115031462 115031462 single base substitution G A downstream_gene_variant ESAD-UK 13 115031462 115031462 single base substitution G A intron_variant ESAD-UK 13 115032115 115032115 single base substitution C G downstream_gene_variant ESAD-UK 13 115032115 115032115 single base substitution C G intron_variant ESAD-UK 13 115033156 115033156 single base substitution T G downstream_gene_variant ESAD-UK 13 115033156 115033156 single base substitution T G intron_variant ESAD-UK 13 115034986 115034986 single base substitution T C intron_variant ESAD-UK 13 115035497 115035497 single base substitution G T intron_variant ESAD-UK 13 115036101 115036101 single base substitution C G intron_variant ESAD-UK 13 115036615 115036615 single base substitution C T intron_variant ESAD-UK 13 115037565 115037565 single base substitution C G intron_variant ESAD-UK 13 115037625 115037625 deletion of <=200bp C - intron_variant ESAD-UK 13 115038235 115038235 single base substitution A G downstream_gene_variant ESAD-UK 13 115041151 115041151 single base substitution A T downstream_gene_variant ESAD-UK 13 115041374 115041374 single base substitution C A downstream_gene_variant ESAD-UK 13 115042067 115042067 single base substitution A C downstream_gene_variant KIRC-US 13 115004884 115004884 single base substitution T G exon_variant KIRC-US 13 115004884 115004884 single base substitution T G missense_variant N100K 300T>G KIRC-US 13 115004884 115004884 single base substitution T G missense_variant N6K 18T>G KIRC-US 13 115004884 115004884 single base substitution T G missense_variant N99K 297T>G KIRC-US 13 115007656 115007656 single base substitution C A exon_variant KIRC-US 13 115007656 115007656 single base substitution C A missense_variant L147M 439C>A KIRC-US 13 115007656 115007656 single base substitution C A missense_variant L148M 442C>A KIRC-US 13 115007656 115007656 single base substitution C A missense_variant L54M 160C>A KIRC-US 13 115007656 115007656 single base substitution C A upstream_gene_variant KIRP-US 13 115022697 115022697 single base substitution G T exon_variant KIRP-US 13 115022697 115022697 single base substitution G T intron_variant KIRP-US 13 115022697 115022697 single base substitution G T missense_variant Q320H 960G>T KIRP-US 13 115022697 115022697 single base substitution G T missense_variant Q413H 1239G>T KIRP-US 13 115022697 115022697 single base substitution G T missense_variant Q414H 1242G>T LAML-KR 13 114996610 114996610 single base substitution C A upstream_gene_variant LAML-KR 13 114996813 114996813 single base substitution G C upstream_gene_variant LAML-KR 13 115003545 115003545 single base substitution A G intron_variant LAML-KR 13 115003601 115003601 single base substitution C T intron_variant LAML-KR 13 115003829 115003829 single base substitution T C intron_variant LAML-KR 13 115003910 115003910 single base substitution G T intron_variant LAML-KR 13 115003990 115003990 single base substitution T G intron_variant LAML-KR 13 115004024 115004024 single base substitution T G intron_variant LAML-KR 13 115004658 115004658 single base substitution A C intron_variant LAML-KR 13 115017442 115017442 single base substitution C T downstream_gene_variant LAML-KR 13 115017442 115017442 single base substitution C T intron_variant LAML-KR 13 115017631 115017631 single base substitution C T downstream_gene_variant LAML-KR 13 115017631 115017631 single base substitution C T intron_variant LAML-KR 13 115017693 115017693 single base substitution G A downstream_gene_variant LAML-KR 13 115017693 115017693 single base substitution G A intron_variant LGG-US 13 115016143 115016143 single base substitution T C downstream_gene_variant LGG-US 13 115016143 115016143 single base substitution T C exon_variant LGG-US 13 115016143 115016143 single base substitution T C missense_variant M270T 809T>C LGG-US 13 115016143 115016143 single base substitution T C missense_variant M363T 1088T>C LGG-US 13 115016143 115016143 single base substitution T C missense_variant M364T 1091T>C LICA-CN 13 115010411 115010411 single base substitution A T downstream_gene_variant LICA-CN 13 115010411 115010411 single base substitution A T exon_variant LICA-CN 13 115010411 115010411 single base substitution A T missense_variant I178L 532A>T LICA-CN 13 115010411 115010411 single base substitution A T missense_variant I271L 811A>T LICA-CN 13 115010411 115010411 single base substitution A T missense_variant I272L 814A>T LICA-CN 13 115010411 115010411 single base substitution A T upstream_gene_variant LICA-FR 13 114996724 114996724 single base substitution C A upstream_gene_variant LICA-FR 13 115002300 115002300 single base substitution G A 5_prime_UTR_variant LICA-FR 13 115002300 115002300 single base substitution G A exon_variant LICA-FR 13 115002300 115002300 single base substitution G A missense_variant A43T 127G>A LICA-FR 13 115002300 115002300 single base substitution G A missense_variant A44T 130G>A LICA-FR 13 115004653 115004653 single base substitution A G intron_variant LICA-FR 13 115012466 115012466 single base substitution A G downstream_gene_variant LICA-FR 13 115012466 115012466 single base substitution A G exon_variant LICA-FR 13 115012466 115012466 single base substitution A G missense_variant R226G 676A>G LICA-FR 13 115012466 115012466 single base substitution A G missense_variant R319G 955A>G LICA-FR 13 115012466 115012466 single base substitution A G missense_variant R320G 958A>G LICA-FR 13 115016975 115016975 single base substitution A G downstream_gene_variant LICA-FR 13 115016975 115016975 single base substitution A G intron_variant LICA-FR 13 115032390 115032390 single base substitution C G downstream_gene_variant LICA-FR 13 115032390 115032390 single base substitution C G intron_variant LINC-JP 13 115001782 115001782 single base substitution A G intron_variant LINC-JP 13 115007811 115007811 deletion of <=200bp T - exon_variant LINC-JP 13 115007811 115007811 deletion of <=200bp T - intron_variant LINC-JP 13 115007811 115007811 deletion of <=200bp T - upstream_gene_variant LINC-JP 13 115008688 115008688 single base substitution A G downstream_gene_variant LINC-JP 13 115008688 115008688 single base substitution A G intron_variant LINC-JP 13 115008688 115008688 single base substitution A G upstream_gene_variant LINC-JP 13 115025583 115025583 single base substitution T C intron_variant LINC-JP 13 115025583 115025583 single base substitution T C upstream_gene_variant LINC-JP 13 115028364 115028364 single base substitution G T exon_variant LINC-JP 13 115028364 115028364 single base substitution G T stop_gained E318* 952G>T LINC-JP 13 115028364 115028364 single base substitution G T stop_gained E369* 1105G>T LINC-JP 13 115028364 115028364 single base substitution G T stop_gained E462* 1384G>T LINC-JP 13 115028364 115028364 single base substitution G T stop_gained E463* 1387G>T LINC-JP 13 115028364 115028364 single base substitution G T upstream_gene_variant LINC-JP 13 115042236 115042236 single base substitution A C downstream_gene_variant LIRI-JP 13 115000050 115000050 single base substitution C A upstream_gene_variant LIRI-JP 13 115000206 115000206 single base substitution C T upstream_gene_variant LIRI-JP 13 115004577 115004577 insertion of <=200bp - T intron_variant LIRI-JP 13 115004979 115004979 single base substitution T A intron_variant LIRI-JP 13 115005379 115005379 single base substitution A T intron_variant LIRI-JP 13 115005379 115005379 single base substitution A T upstream_gene_variant LIRI-JP 13 115006397 115006397 single base substitution T C intron_variant LIRI-JP 13 115006397 115006397 single base substitution T C upstream_gene_variant LIRI-JP 13 115006951 115006951 single base substitution C A intron_variant LIRI-JP 13 115006951 115006951 single base substitution C A upstream_gene_variant LIRI-JP 13 115007863 115007863 single base substitution A G exon_variant LIRI-JP 13 115007863 115007863 single base substitution A G intron_variant LIRI-JP 13 115007863 115007863 single base substitution A G upstream_gene_variant LIRI-JP 13 115008738 115008738 single base substitution A T downstream_gene_variant LIRI-JP 13 115008738 115008738 single base substitution A T missense_variant E182V 545A>T LIRI-JP 13 115008738 115008738 single base substitution A T missense_variant E183V 548A>T LIRI-JP 13 115008738 115008738 single base substitution A T missense_variant E89V 266A>T LIRI-JP 13 115008738 115008738 single base substitution A T upstream_gene_variant LIRI-JP 13 115009314 115009314 single base substitution A G downstream_gene_variant LIRI-JP 13 115009314 115009314 single base substitution A G intron_variant LIRI-JP 13 115009314 115009314 single base substitution A G upstream_gene_variant LIRI-JP 13 115009594 115009594 single base substitution G A downstream_gene_variant LIRI-JP 13 115009594 115009594 single base substitution G A intron_variant LIRI-JP 13 115009594 115009594 single base substitution G A upstream_gene_variant LIRI-JP 13 115009728 115009728 single base substitution T A downstream_gene_variant LIRI-JP 13 115009728 115009728 single base substitution T A intron_variant LIRI-JP 13 115009728 115009728 single base substitution T A upstream_gene_variant LIRI-JP 13 115010253 115010253 single base substitution A G downstream_gene_variant LIRI-JP 13 115010253 115010253 single base substitution A G exon_variant LIRI-JP 13 115010253 115010253 single base substitution A G intron_variant LIRI-JP 13 115010253 115010253 single base substitution A G upstream_gene_variant LIRI-JP 13 115013579 115013579 single base substitution A G downstream_gene_variant LIRI-JP 13 115013579 115013579 single base substitution A G intron_variant LIRI-JP 13 115020674 115020674 single base substitution A G intron_variant LIRI-JP 13 115021808 115021808 single base substitution G A intron_variant LIRI-JP 13 115022629 115022629 single base substitution A C exon_variant LIRI-JP 13 115022629 115022629 single base substitution A C intron_variant LIRI-JP 13 115022629 115022629 single base substitution A C missense_variant S298R 892A>C LIRI-JP 13 115022629 115022629 single base substitution A C missense_variant S391R 1171A>C LIRI-JP 13 115022629 115022629 single base substitution A C missense_variant S392R 1174A>C LIRI-JP 13 115022998 115022998 single base substitution C T intron_variant LIRI-JP 13 115028571 115028571 single base substitution A G downstream_gene_variant LIRI-JP 13 115028571 115028571 single base substitution A G intron_variant LIRI-JP 13 115028571 115028571 single base substitution A G upstream_gene_variant LIRI-JP 13 115031090 115031095 deletion of <=200bp TAAATC - downstream_gene_variant LIRI-JP 13 115031090 115031095 deletion of <=200bp TAAATC - intron_variant LIRI-JP 13 115031166 115031166 single base substitution G T downstream_gene_variant LIRI-JP 13 115031166 115031166 single base substitution G T intron_variant LIRI-JP 13 115031919 115031919 single base substitution G T downstream_gene_variant LIRI-JP 13 115031919 115031919 single base substitution G T intron_variant LIRI-JP 13 115032143 115032143 single base substitution A G downstream_gene_variant LIRI-JP 13 115032143 115032143 single base substitution A G intron_variant LIRI-JP 13 115038108 115038108 single base substitution T A 3_prime_UTR_variant LIRI-JP 13 115038108 115038108 single base substitution T A downstream_gene_variant LUSC-KR 13 114996585 114996585 single base substitution G C upstream_gene_variant LUSC-KR 13 114996610 114996610 single base substitution C A upstream_gene_variant LUSC-KR 13 114996667 114996667 single base substitution A C upstream_gene_variant LUSC-KR 13 114996813 114996813 single base substitution G C upstream_gene_variant LUSC-KR 13 114996927 114996927 single base substitution C G upstream_gene_variant LUSC-KR 13 114997654 114997654 single base substitution G A upstream_gene_variant LUSC-KR 13 115003876 115003876 single base substitution G T intron_variant LUSC-KR 13 115007001 115007001 single base substitution A G intron_variant LUSC-KR 13 115007001 115007001 single base substitution A G upstream_gene_variant LUSC-KR 13 115009825 115009825 single base substitution C T downstream_gene_variant LUSC-KR 13 115009825 115009825 single base substitution C T intron_variant LUSC-KR 13 115009825 115009825 single base substitution C T upstream_gene_variant LUSC-KR 13 115017631 115017631 single base substitution C T downstream_gene_variant LUSC-KR 13 115017631 115017631 single base substitution C T intron_variant LUSC-KR 13 115023832 115023832 single base substitution G T intron_variant LUSC-KR 13 115027516 115027516 single base substitution A G intron_variant LUSC-KR 13 115027516 115027516 single base substitution A G upstream_gene_variant LUSC-KR 13 115031941 115031941 single base substitution A T downstream_gene_variant LUSC-KR 13 115031941 115031941 single base substitution A T intron_variant LUSC-US 13 115009418 115009418 single base substitution C A downstream_gene_variant LUSC-US 13 115009418 115009418 single base substitution C A missense_variant H147N 439C>A LUSC-US 13 115009418 115009418 single base substitution C A missense_variant H240N 718C>A LUSC-US 13 115009418 115009418 single base substitution C A missense_variant H241N 721C>A LUSC-US 13 115009418 115009418 single base substitution C A upstream_gene_variant MALY-DE 13 115005421 115005421 single base substitution T A intron_variant MALY-DE 13 115005421 115005421 single base substitution T A upstream_gene_variant MALY-DE 13 115007296 115007296 single base substitution T C intron_variant MALY-DE 13 115007296 115007296 single base substitution T C upstream_gene_variant MALY-DE 13 115012537 115012537 single base substitution A C downstream_gene_variant MALY-DE 13 115012537 115012537 single base substitution A C exon_variant MALY-DE 13 115012537 115012537 single base substitution A C intron_variant MALY-DE 13 115032214 115032214 single base substitution G A downstream_gene_variant MALY-DE 13 115032214 115032214 single base substitution G A intron_variant MALY-DE 13 115039270 115039270 single base substitution A G downstream_gene_variant MELA-AU 13 114995620 114995620 single base substitution C T upstream_gene_variant MELA-AU 13 114995687 114995687 single base substitution C T upstream_gene_variant MELA-AU 13 114995815 114995815 single base substitution A T upstream_gene_variant MELA-AU 13 114996625 114996625 single base substitution G A upstream_gene_variant MELA-AU 13 114996980 114996980 single base substitution C T upstream_gene_variant MELA-AU 13 114997087 114997087 single base substitution C T upstream_gene_variant MELA-AU 13 114997272 114997272 single base substitution C T upstream_gene_variant MELA-AU 13 114997299 114997299 single base substitution G A upstream_gene_variant MELA-AU 13 114997335 114997335 single base substitution G A upstream_gene_variant MELA-AU 13 114997401 114997401 single base substitution G A upstream_gene_variant MELA-AU 13 114997746 114997746 single base substitution G A upstream_gene_variant MELA-AU 13 114997928 114997928 single base substitution G A upstream_gene_variant MELA-AU 13 114997993 114997993 single base substitution G A upstream_gene_variant MELA-AU 13 114998213 114998213 single base substitution C T upstream_gene_variant MELA-AU 13 114998495 114998496 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 114998506 114998506 single base substitution G A upstream_gene_variant MELA-AU 13 114998732 114998732 single base substitution A G upstream_gene_variant MELA-AU 13 114998839 114998839 single base substitution C T upstream_gene_variant MELA-AU 13 114998886 114998886 single base substitution C T upstream_gene_variant MELA-AU 13 114998969 114998969 single base substitution C T upstream_gene_variant MELA-AU 13 114999225 114999225 single base substitution G A upstream_gene_variant MELA-AU 13 114999308 114999308 single base substitution C T upstream_gene_variant MELA-AU 13 114999621 114999621 single base substitution C T upstream_gene_variant MELA-AU 13 114999895 114999895 single base substitution C T upstream_gene_variant MELA-AU 13 115000301 115000301 single base substitution C T upstream_gene_variant MELA-AU 13 115001447 115001447 single base substitution C T intron_variant MELA-AU 13 115002266 115002267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 115002266 115002267 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 13 115003994 115003994 single base substitution C T intron_variant MELA-AU 13 115004206 115004206 single base substitution A T intron_variant MELA-AU 13 115004617 115004617 single base substitution C T intron_variant MELA-AU 13 115004760 115004760 single base substitution A T intron_variant MELA-AU 13 115004914 115004914 single base substitution C G exon_variant MELA-AU 13 115004914 115004914 single base substitution C G missense_variant D109E 327C>G MELA-AU 13 115004914 115004914 single base substitution C G missense_variant D110E 330C>G MELA-AU 13 115004914 115004914 single base substitution C G missense_variant D16E 48C>G MELA-AU 13 115006078 115006078 single base substitution C T intron_variant MELA-AU 13 115006078 115006078 single base substitution C T upstream_gene_variant MELA-AU 13 115006171 115006171 single base substitution T C intron_variant MELA-AU 13 115006171 115006171 single base substitution T C upstream_gene_variant MELA-AU 13 115006246 115006265 deletion of <=200bp TGGCCACTCATTAATGTATG - intron_variant MELA-AU 13 115006246 115006265 deletion of <=200bp TGGCCACTCATTAATGTATG - upstream_gene_variant MELA-AU 13 115006499 115006499 single base substitution T C intron_variant MELA-AU 13 115006499 115006499 single base substitution T C upstream_gene_variant MELA-AU 13 115007379 115007379 single base substitution A C intron_variant MELA-AU 13 115007379 115007379 single base substitution A C upstream_gene_variant MELA-AU 13 115007381 115007384 deletion of <=200bp TGTT - intron_variant MELA-AU 13 115007381 115007384 deletion of <=200bp TGTT - upstream_gene_variant MELA-AU 13 115007600 115007600 single base substitution A C exon_variant MELA-AU 13 115007600 115007600 single base substitution A C missense_variant K128T 383A>C MELA-AU 13 115007600 115007600 single base substitution A C missense_variant K129T 386A>C MELA-AU 13 115007600 115007600 single base substitution A C missense_variant K35T 104A>C MELA-AU 13 115007600 115007600 single base substitution A C upstream_gene_variant MELA-AU 13 115008498 115008498 single base substitution A G downstream_gene_variant MELA-AU 13 115008498 115008498 single base substitution A G intron_variant MELA-AU 13 115008498 115008498 single base substitution A G upstream_gene_variant MELA-AU 13 115009668 115009668 single base substitution T G downstream_gene_variant MELA-AU 13 115009668 115009668 single base substitution T G intron_variant MELA-AU 13 115009668 115009668 single base substitution T G upstream_gene_variant MELA-AU 13 115011176 115011176 single base substitution C T downstream_gene_variant MELA-AU 13 115011176 115011176 single base substitution C T intron_variant MELA-AU 13 115011176 115011176 single base substitution C T upstream_gene_variant MELA-AU 13 115011486 115011486 single base substitution C T downstream_gene_variant MELA-AU 13 115011486 115011486 single base substitution C T exon_variant MELA-AU 13 115011486 115011486 single base substitution C T missense_variant L193F 577C>T MELA-AU 13 115011486 115011486 single base substitution C T missense_variant L286F 856C>T MELA-AU 13 115011486 115011486 single base substitution C T missense_variant L287F 859C>T MELA-AU 13 115011513 115011513 single base substitution C T downstream_gene_variant MELA-AU 13 115011513 115011513 single base substitution C T exon_variant MELA-AU 13 115011513 115011513 single base substitution C T missense_variant P202S 604C>T MELA-AU 13 115011513 115011513 single base substitution C T missense_variant P295S 883C>T MELA-AU 13 115011513 115011513 single base substitution C T missense_variant P296S 886C>T MELA-AU 13 115012069 115012069 single base substitution C T downstream_gene_variant MELA-AU 13 115012069 115012069 single base substitution C T intron_variant MELA-AU 13 115014215 115014215 single base substitution A G downstream_gene_variant MELA-AU 13 115014215 115014215 single base substitution A G intron_variant MELA-AU 13 115014223 115014223 single base substitution T C downstream_gene_variant MELA-AU 13 115014223 115014223 single base substitution T C intron_variant MELA-AU 13 115015610 115015610 single base substitution C T downstream_gene_variant MELA-AU 13 115015610 115015610 single base substitution C T intron_variant MELA-AU 13 115017324 115017324 single base substitution C G downstream_gene_variant MELA-AU 13 115017324 115017324 single base substitution C G intron_variant MELA-AU 13 115017332 115017332 insertion of <=200bp - A downstream_gene_variant MELA-AU 13 115017332 115017332 insertion of <=200bp - A intron_variant MELA-AU 13 115017748 115017748 single base substitution C T intron_variant MELA-AU 13 115018847 115018847 single base substitution C T intron_variant MELA-AU 13 115018912 115018912 single base substitution C T intron_variant MELA-AU 13 115020705 115020705 single base substitution C T intron_variant MELA-AU 13 115021970 115021970 single base substitution C T intron_variant MELA-AU 13 115023726 115023726 single base substitution T C intron_variant MELA-AU 13 115024595 115024595 single base substitution A G intron_variant MELA-AU 13 115025539 115025539 single base substitution C T intron_variant MELA-AU 13 115025539 115025539 single base substitution C T upstream_gene_variant MELA-AU 13 115025553 115025553 single base substitution T G intron_variant MELA-AU 13 115025553 115025553 single base substitution T G upstream_gene_variant MELA-AU 13 115026527 115026527 single base substitution T C intron_variant MELA-AU 13 115026527 115026527 single base substitution T C upstream_gene_variant MELA-AU 13 115027024 115027024 single base substitution A G intron_variant MELA-AU 13 115027024 115027024 single base substitution A G upstream_gene_variant MELA-AU 13 115027174 115027174 single base substitution C T intron_variant MELA-AU 13 115027174 115027174 single base substitution C T upstream_gene_variant MELA-AU 13 115027695 115027695 single base substitution C T intron_variant MELA-AU 13 115027695 115027695 single base substitution C T upstream_gene_variant MELA-AU 13 115028622 115028622 single base substitution C T downstream_gene_variant MELA-AU 13 115028622 115028622 single base substitution C T intron_variant MELA-AU 13 115028622 115028622 single base substitution C T upstream_gene_variant MELA-AU 13 115028761 115028761 single base substitution T C downstream_gene_variant MELA-AU 13 115028761 115028761 single base substitution T C intron_variant MELA-AU 13 115028761 115028761 single base substitution T C upstream_gene_variant MELA-AU 13 115028778 115028778 single base substitution C T downstream_gene_variant MELA-AU 13 115028778 115028778 single base substitution C T intron_variant MELA-AU 13 115028778 115028778 single base substitution C T upstream_gene_variant MELA-AU 13 115028983 115028983 single base substitution C T downstream_gene_variant MELA-AU 13 115028983 115028983 single base substitution C T intron_variant MELA-AU 13 115028983 115028983 single base substitution C T upstream_gene_variant MELA-AU 13 115032278 115032278 single base substitution C T downstream_gene_variant MELA-AU 13 115032278 115032278 single base substitution C T intron_variant MELA-AU 13 115033619 115033619 single base substitution G A intron_variant MELA-AU 13 115034024 115034024 single base substitution G A intron_variant MELA-AU 13 115034494 115034494 single base substitution T C intron_variant MELA-AU 13 115034835 115034835 single base substitution G A intron_variant MELA-AU 13 115035436 115035436 single base substitution C T intron_variant MELA-AU 13 115036364 115036364 single base substitution C T intron_variant MELA-AU 13 115037190 115037190 single base substitution T C intron_variant MELA-AU 13 115037604 115037604 single base substitution A C intron_variant MELA-AU 13 115038017 115038017 single base substitution C T 3_prime_UTR_variant MELA-AU 13 115038017 115038017 single base substitution C T downstream_gene_variant MELA-AU 13 115038017 115038017 single base substitution C T intron_variant MELA-AU 13 115038085 115038085 single base substitution G A 3_prime_UTR_variant MELA-AU 13 115038085 115038085 single base substitution G A downstream_gene_variant MELA-AU 13 115039040 115039040 single base substitution C T downstream_gene_variant MELA-AU 13 115039392 115039393 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 115039682 115039682 single base substitution T C downstream_gene_variant MELA-AU 13 115040258 115040258 single base substitution C T downstream_gene_variant MELA-AU 13 115040605 115040605 single base substitution C T downstream_gene_variant MELA-AU 13 115040708 115040708 single base substitution C T downstream_gene_variant MELA-AU 13 115040922 115040922 single base substitution C T downstream_gene_variant MELA-AU 13 115040929 115040929 single base substitution A G downstream_gene_variant MELA-AU 13 115041062 115041062 single base substitution C T downstream_gene_variant MELA-AU 13 115041486 115041486 single base substitution C T downstream_gene_variant MELA-AU 13 115042216 115042216 single base substitution C T downstream_gene_variant MELA-AU 13 115042533 115042533 single base substitution C T downstream_gene_variant MELA-AU 13 115042589 115042589 single base substitution C T downstream_gene_variant ORCA-IN 13 115004431 115004431 single base substitution G C intron_variant ORCA-IN 13 115004557 115004557 single base substitution C A intron_variant ORCA-IN 13 115029723 115029723 single base substitution G A downstream_gene_variant ORCA-IN 13 115029723 115029723 single base substitution G A exon_variant ORCA-IN 13 115029723 115029723 single base substitution G A intron_variant OV-AU 13 115006902 115006902 single base substitution G C intron_variant OV-AU 13 115006902 115006902 single base substitution G C upstream_gene_variant OV-AU 13 115024727 115024727 single base substitution A T intron_variant OV-AU 13 115024727 115024727 single base substitution A T upstream_gene_variant OV-AU 13 115032174 115032174 single base substitution T A downstream_gene_variant OV-AU 13 115032174 115032174 single base substitution T A intron_variant OV-AU 13 115032825 115032825 single base substitution A T downstream_gene_variant OV-AU 13 115032825 115032825 single base substitution A T intron_variant OV-AU 13 115036673 115036673 single base substitution G A intron_variant OV-AU 13 115041009 115041009 single base substitution C T downstream_gene_variant OV-AU 13 115041133 115041133 single base substitution A T downstream_gene_variant PACA-AU 13 114998374 114998374 single base substitution A T upstream_gene_variant PACA-AU 13 115005619 115005619 insertion of <=200bp - T intron_variant PACA-AU 13 115005619 115005619 insertion of <=200bp - T upstream_gene_variant PACA-AU 13 115008623 115008623 single base substitution G A downstream_gene_variant PACA-AU 13 115008623 115008623 single base substitution G A intron_variant PACA-AU 13 115008623 115008623 single base substitution G A upstream_gene_variant PACA-AU 13 115010262 115010262 single base substitution A C downstream_gene_variant PACA-AU 13 115010262 115010262 single base substitution A C exon_variant PACA-AU 13 115010262 115010262 single base substitution A C intron_variant PACA-AU 13 115010262 115010262 single base substitution A C upstream_gene_variant PACA-AU 13 115010705 115010705 single base substitution T C downstream_gene_variant PACA-AU 13 115010705 115010705 single base substitution T C intron_variant PACA-AU 13 115010705 115010705 single base substitution T C upstream_gene_variant PACA-AU 13 115019674 115019674 single base substitution C T intron_variant PACA-AU 13 115019911 115019911 single base substitution T C intron_variant PACA-AU 13 115024746 115024746 single base substitution A T intron_variant PACA-AU 13 115024746 115024746 single base substitution A T upstream_gene_variant PACA-AU 13 115040598 115040602 deletion of <=200bp TAGAT - downstream_gene_variant PACA-AU 13 115042035 115042035 single base substitution G A downstream_gene_variant PACA-AU 13 115042748 115042748 single base substitution C T downstream_gene_variant PACA-CA 13 114999838 114999838 single base substitution A G upstream_gene_variant PACA-CA 13 115000825 115000840 deletion of <=200bp GCGCACGGGGCGCCTC - intron_variant PACA-CA 13 115002125 115002125 single base substitution G A 5_prime_UTR_variant PACA-CA 13 115002125 115002125 single base substitution G A exon_variant PACA-CA 13 115002125 115002125 single base substitution G A synonymous_variant Q18Q 54G>A PACA-CA 13 115007650 115007650 single base substitution C T exon_variant PACA-CA 13 115007650 115007650 single base substitution C T stop_gained R145* 433C>T PACA-CA 13 115007650 115007650 single base substitution C T stop_gained R146* 436C>T PACA-CA 13 115007650 115007650 single base substitution C T stop_gained R52* 154C>T PACA-CA 13 115007650 115007650 single base substitution C T upstream_gene_variant PACA-CA 13 115008688 115008688 single base substitution A G downstream_gene_variant PACA-CA 13 115008688 115008688 single base substitution A G intron_variant PACA-CA 13 115008688 115008688 single base substitution A G upstream_gene_variant PACA-CA 13 115010380 115010380 single base substitution T C downstream_gene_variant PACA-CA 13 115010380 115010380 single base substitution T C exon_variant PACA-CA 13 115010380 115010380 single base substitution T C synonymous_variant D167D 501T>C PACA-CA 13 115010380 115010380 single base substitution T C synonymous_variant D260D 780T>C PACA-CA 13 115010380 115010380 single base substitution T C synonymous_variant D261D 783T>C PACA-CA 13 115010380 115010380 single base substitution T C upstream_gene_variant PACA-CA 13 115016440 115016440 single base substitution A T downstream_gene_variant PACA-CA 13 115016440 115016440 single base substitution A T intron_variant PACA-CA 13 115017420 115017420 single base substitution C G downstream_gene_variant PACA-CA 13 115017420 115017420 single base substitution C G intron_variant PACA-CA 13 115019732 115019732 single base substitution A G intron_variant PACA-CA 13 115019836 115019836 deletion of <=200bp T - intron_variant PACA-CA 13 115020035 115020035 single base substitution A G intron_variant PACA-CA 13 115020731 115020731 single base substitution T C intron_variant PACA-CA 13 115022905 115022905 single base substitution C T intron_variant PACA-CA 13 115025090 115025090 single base substitution T G intron_variant PACA-CA 13 115025090 115025090 single base substitution T G upstream_gene_variant PACA-CA 13 115028157 115028157 single base substitution C T intron_variant PACA-CA 13 115028157 115028157 single base substitution C T upstream_gene_variant PACA-CA 13 115030753 115030753 deletion of <=200bp T - downstream_gene_variant PACA-CA 13 115030753 115030753 deletion of <=200bp T - intron_variant PACA-CA 13 115030797 115030797 single base substitution C T downstream_gene_variant PACA-CA 13 115030797 115030797 single base substitution C T intron_variant PACA-CA 13 115030910 115030910 single base substitution C T downstream_gene_variant PACA-CA 13 115030910 115030910 single base substitution C T intron_variant PACA-CA 13 115031277 115031277 single base substitution C T downstream_gene_variant PACA-CA 13 115031277 115031277 single base substitution C T intron_variant PACA-CA 13 115033945 115033945 single base substitution G C intron_variant PACA-CA 13 115034308 115034308 single base substitution A G intron_variant PACA-CA 13 115035428 115035428 single base substitution G A intron_variant PACA-CA 13 115038361 115038361 single base substitution G A downstream_gene_variant PACA-CA 13 115040816 115040816 single base substitution G A downstream_gene_variant PACA-CA 13 115040967 115040967 single base substitution G T downstream_gene_variant PAEN-AU 13 115012284 115012284 single base substitution A G downstream_gene_variant PAEN-AU 13 115012284 115012284 single base substitution A G intron_variant PAEN-AU 13 115033421 115033421 single base substitution G T downstream_gene_variant PAEN-AU 13 115033421 115033421 single base substitution G T intron_variant PAEN-AU 13 115037609 115037609 single base substitution A G intron_variant PAEN-AU 13 115042262 115042262 single base substitution A C downstream_gene_variant PBCA-DE 13 115008038 115008038 single base substitution A G exon_variant PBCA-DE 13 115008038 115008038 single base substitution A G intron_variant PBCA-DE 13 115008038 115008038 single base substitution A G upstream_gene_variant PBCA-DE 13 115009433 115009433 single base substitution G T downstream_gene_variant PBCA-DE 13 115009433 115009433 single base substitution G T missense_variant D152Y 454G>T PBCA-DE 13 115009433 115009433 single base substitution G T missense_variant D245Y 733G>T PBCA-DE 13 115009433 115009433 single base substitution G T missense_variant D246Y 736G>T PBCA-DE 13 115009433 115009433 single base substitution G T upstream_gene_variant PBCA-DE 13 115014888 115014888 single base substitution C T downstream_gene_variant PBCA-DE 13 115014888 115014888 single base substitution C T intron_variant PBCA-DE 13 115029563 115029563 single base substitution A T downstream_gene_variant PBCA-DE 13 115029563 115029563 single base substitution A T intron_variant PBCA-DE 13 115029563 115029563 single base substitution A T upstream_gene_variant PBCA-DE 13 115037987 115037987 single base substitution T G 3_prime_UTR_variant PBCA-DE 13 115037987 115037987 single base substitution T G downstream_gene_variant PBCA-DE 13 115037987 115037987 single base substitution T G intron_variant PRAD-CA 13 115013594 115013594 single base substitution A T downstream_gene_variant PRAD-CA 13 115013594 115013594 single base substitution A T intron_variant PRAD-CA 13 115019135 115019135 single base substitution G T intron_variant PRAD-CA 13 115037904 115037904 single base substitution G T exon_variant PRAD-CA 13 115037904 115037904 single base substitution G T missense_variant D472Y 1414G>T PRAD-CA 13 115037904 115037904 single base substitution G T missense_variant D523Y 1567G>T PRAD-CA 13 115037904 115037904 single base substitution G T missense_variant D616Y 1846G>T PRAD-CA 13 115037904 115037904 single base substitution G T missense_variant D617Y 1849G>T PRAD-UK 13 115008251 115008251 single base substitution A C downstream_gene_variant PRAD-UK 13 115008251 115008251 single base substitution A C intron_variant PRAD-UK 13 115008251 115008251 single base substitution A C upstream_gene_variant PRAD-UK 13 115013085 115013085 single base substitution G C downstream_gene_variant PRAD-UK 13 115013085 115013085 single base substitution G C intron_variant PRAD-UK 13 115030492 115030492 single base substitution C A downstream_gene_variant PRAD-UK 13 115030492 115030492 single base substitution C A exon_variant PRAD-UK 13 115030492 115030492 single base substitution C A intron_variant READ-US 13 115004889 115004889 single base substitution G T exon_variant READ-US 13 115004889 115004889 single base substitution G T missense_variant R101I 302G>T READ-US 13 115004889 115004889 single base substitution G T missense_variant R102I 305G>T READ-US 13 115004889 115004889 single base substitution G T missense_variant R8I 23G>T READ-US 13 115008808 115008808 single base substitution G A downstream_gene_variant READ-US 13 115008808 115008808 single base substitution G A synonymous_variant E112E 336G>A READ-US 13 115008808 115008808 single base substitution G A synonymous_variant E205E 615G>A READ-US 13 115008808 115008808 single base substitution G A synonymous_variant E206E 618G>A READ-US 13 115008808 115008808 single base substitution G A upstream_gene_variant RECA-EU 13 114996371 114996371 single base substitution G A upstream_gene_variant RECA-EU 13 115022878 115022878 single base substitution T A intron_variant RECA-EU 13 115032130 115032130 single base substitution G C downstream_gene_variant RECA-EU 13 115032130 115032130 single base substitution G C intron_variant SKCA-BR 13 114996800 114996800 single base substitution T G upstream_gene_variant SKCA-BR 13 114996895 114996895 single base substitution C A upstream_gene_variant SKCA-BR 13 114997528 114997528 single base substitution C T upstream_gene_variant SKCA-BR 13 114998233 114998233 single base substitution C A upstream_gene_variant SKCA-BR 13 114999328 114999328 single base substitution G A upstream_gene_variant SKCA-BR 13 115000495 115000495 single base substitution T G 5_prime_UTR_variant SKCA-BR 13 115000495 115000495 single base substitution T G exon_variant SKCA-BR 13 115000495 115000495 single base substitution T G upstream_gene_variant SKCA-BR 13 115002042 115002042 single base substitution T C intron_variant SKCA-BR 13 115003829 115003829 single base substitution T C intron_variant SKCA-BR 13 115004970 115004970 single base substitution G A splice_region_variant SKCA-BR 13 115006132 115006132 single base substitution C T intron_variant SKCA-BR 13 115006132 115006132 single base substitution C T upstream_gene_variant SKCA-BR 13 115012808 115012808 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 13 115012808 115012808 insertion of <=200bp - ATT intron_variant SKCA-BR 13 115017731 115017731 single base substitution A T intron_variant SKCA-BR 13 115025473 115025473 single base substitution A C intron_variant SKCA-BR 13 115025473 115025473 single base substitution A C upstream_gene_variant SKCA-BR 13 115030451 115030451 single base substitution G A downstream_gene_variant SKCA-BR 13 115030451 115030451 single base substitution G A exon_variant SKCA-BR 13 115030451 115030451 single base substitution G A intron_variant SKCA-BR 13 115034787 115034787 single base substitution A T intron_variant SKCA-BR 13 115037540 115037540 single base substitution T C intron_variant SKCA-BR 13 115040875 115040875 single base substitution G T downstream_gene_variant SKCA-BR 13 115042799 115042799 single base substitution C A downstream_gene_variant SKCM-US 13 115022681 115022681 single base substitution G T exon_variant SKCM-US 13 115022681 115022681 single base substitution G T intron_variant SKCM-US 13 115022681 115022681 single base substitution G T missense_variant G315V 944G>T SKCM-US 13 115022681 115022681 single base substitution G T missense_variant G408V 1223G>T SKCM-US 13 115022681 115022681 single base substitution G T missense_variant G409V 1226G>T STAD-US 13 115007681 115007681 single base substitution C T exon_variant STAD-US 13 115007681 115007681 single base substitution C T missense_variant A155V 464C>T STAD-US 13 115007681 115007681 single base substitution C T missense_variant A156V 467C>T STAD-US 13 115007681 115007681 single base substitution C T missense_variant A62V 185C>T STAD-US 13 115007681 115007681 single base substitution C T upstream_gene_variant STAD-US 13 115007699 115007699 single base substitution A G exon_variant STAD-US 13 115007699 115007699 single base substitution A G missense_variant Y161C 482A>G STAD-US 13 115007699 115007699 single base substitution A G missense_variant Y162C 485A>G STAD-US 13 115007699 115007699 single base substitution A G missense_variant Y68C 203A>G STAD-US 13 115007699 115007699 single base substitution A G upstream_gene_variant STAD-US 13 115010376 115010376 single base substitution A G downstream_gene_variant STAD-US 13 115010376 115010376 single base substitution A G exon_variant STAD-US 13 115010376 115010376 single base substitution A G missense_variant K166R 497A>G STAD-US 13 115010376 115010376 single base substitution A G missense_variant K259R 776A>G STAD-US 13 115010376 115010376 single base substitution A G missense_variant K260R 779A>G STAD-US 13 115010376 115010376 single base substitution A G upstream_gene_variant STAD-US 13 115012445 115012445 single base substitution G A downstream_gene_variant STAD-US 13 115012445 115012445 single base substitution G A exon_variant STAD-US 13 115012445 115012445 single base substitution G A missense_variant G219S 655G>A STAD-US 13 115012445 115012445 single base substitution G A missense_variant G312S 934G>A STAD-US 13 115012445 115012445 single base substitution G A missense_variant G313S 937G>A STAD-US 13 115022679 115022679 single base substitution C T exon_variant STAD-US 13 115022679 115022679 single base substitution C T intron_variant STAD-US 13 115022679 115022679 single base substitution C T synonymous_variant V314V 942C>T STAD-US 13 115022679 115022679 single base substitution C T synonymous_variant V407V 1221C>T STAD-US 13 115022679 115022679 single base substitution C T synonymous_variant V408V 1224C>T STAD-US 13 115028389 115028389 single base substitution C T exon_variant STAD-US 13 115028389 115028389 single base substitution C T missense_variant A326V 977C>T STAD-US 13 115028389 115028389 single base substitution C T missense_variant A377V 1130C>T STAD-US 13 115028389 115028389 single base substitution C T missense_variant A470V 1409C>T STAD-US 13 115028389 115028389 single base substitution C T missense_variant A471V 1412C>T STAD-US 13 115028389 115028389 single base substitution C T upstream_gene_variant STAD-US 13 115030682 115030682 single base substitution G A downstream_gene_variant STAD-US 13 115030682 115030682 single base substitution G A exon_variant STAD-US 13 115030682 115030682 single base substitution G A missense_variant E379K 1135G>A STAD-US 13 115030682 115030682 single base substitution G A missense_variant E430K 1288G>A STAD-US 13 115030682 115030682 single base substitution G A missense_variant E523K 1567G>A STAD-US 13 115030682 115030682 single base substitution G A missense_variant E524K 1570G>A STAD-US 13 115037720 115037720 deletion of <=200bp A - exon_variant STAD-US 13 115037720 115037720 deletion of <=200bp A - frameshift_variant L410 STAD-US 13 115037720 115037720 deletion of <=200bp A - frameshift_variant L461 STAD-US 13 115037720 115037720 deletion of <=200bp A - frameshift_variant L554 STAD-US 13 115037720 115037720 deletion of <=200bp A - frameshift_variant L555 UCEC-US 13 115004480 115004480 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 13 115004480 115004480 single base substitution C T exon_variant UCEC-US 13 115004480 115004480 single base substitution C T missense_variant R72C 214C>T UCEC-US 13 115004480 115004480 single base substitution C T missense_variant R73C 217C>T UCEC-US 13 115004902 115004902 single base substitution A C exon_variant UCEC-US 13 115004902 115004902 single base substitution A C missense_variant K105N 315A>C UCEC-US 13 115004902 115004902 single base substitution A C missense_variant K106N 318A>C UCEC-US 13 115004902 115004902 single base substitution A C missense_variant K12N 36A>C UCEC-US 13 115007621 115007621 single base substitution G A exon_variant UCEC-US 13 115007621 115007621 single base substitution G A missense_variant R135H 404G>A UCEC-US 13 115007621 115007621 single base substitution G A missense_variant R136H 407G>A UCEC-US 13 115007621 115007621 single base substitution G A missense_variant R42H 125G>A UCEC-US 13 115007621 115007621 single base substitution G A upstream_gene_variant UCEC-US 13 115008795 115008795 single base substitution G A downstream_gene_variant UCEC-US 13 115008795 115008795 single base substitution G A missense_variant R108H 323G>A UCEC-US 13 115008795 115008795 single base substitution G A missense_variant R201H 602G>A UCEC-US 13 115008795 115008795 single base substitution G A missense_variant R202H 605G>A UCEC-US 13 115008795 115008795 single base substitution G A upstream_gene_variant UCEC-US 13 115022695 115022695 single base substitution C G exon_variant UCEC-US 13 115022695 115022695 single base substitution C G intron_variant UCEC-US 13 115022695 115022695 single base substitution C G missense_variant Q320E 958C>G UCEC-US 13 115022695 115022695 single base substitution C G missense_variant Q413E 1237C>G UCEC-US 13 115022695 115022695 single base substitution C G missense_variant Q414E 1240C>G UCEC-US 13 115024817 115024817 single base substitution A G exon_variant UCEC-US 13 115024817 115024817 single base substitution A G missense_variant T275A 823A>G UCEC-US 13 115024817 115024817 single base substitution A G missense_variant T326A 976A>G UCEC-US 13 115024817 115024817 single base substitution A G missense_variant T419A 1255A>G UCEC-US 13 115024817 115024817 single base substitution A G missense_variant T420A 1258A>G UCEC-US 13 115024817 115024817 single base substitution A G upstream_gene_variant UCEC-US 13 115024965 115024965 single base substitution G A intron_variant UCEC-US 13 115024965 115024965 single base substitution G A upstream_gene_variant UCEC-US 13 115027421 115027424 deletion of <=200bp TAAG - splice_donor_variant UCEC-US 13 115027421 115027424 deletion of <=200bp TAAG - upstream_gene_variant UCEC-US 13 115028491 115028491 single base substitution T C downstream_gene_variant UCEC-US 13 115028491 115028491 single base substitution T C splice_donor_variant UCEC-US 13 115028491 115028491 single base substitution T C upstream_gene_variant UCEC-US 13 115030681 115030681 single base substitution C T downstream_gene_variant UCEC-US 13 115030681 115030681 single base substitution C T exon_variant UCEC-US 13 115030681 115030681 single base substitution C T synonymous_variant I378I 1134C>T UCEC-US 13 115030681 115030681 single base substitution C T synonymous_variant I429I 1287C>T UCEC-US 13 115030681 115030681 single base substitution C T synonymous_variant I522I 1566C>T UCEC-US 13 115030681 115030681 single base substitution C T synonymous_variant I523I 1569C>T UCEC-US 13 115030701 115030701 single base substitution C T downstream_gene_variant UCEC-US 13 115030701 115030701 single base substitution C T exon_variant UCEC-US 13 115030701 115030701 single base substitution C T missense_variant S385F 1154C>T UCEC-US 13 115030701 115030701 single base substitution C T missense_variant S436F 1307C>T UCEC-US 13 115030701 115030701 single base substitution C T missense_variant S529F 1586C>T UCEC-US 13 115030701 115030701 single base substitution C T missense_variant S530F 1589C>T UCEC-US 13 115037693 115037693 single base substitution C T exon_variant UCEC-US 13 115037693 115037693 single base substitution C T synonymous_variant D401D 1203C>T UCEC-US 13 115037693 115037693 single base substitution C T synonymous_variant D452D 1356C>T UCEC-US 13 115037693 115037693 single base substitution C T synonymous_variant D545D 1635C>T UCEC-US 13 115037693 115037693 single base substitution C T synonymous_variant D546D 1638C>T UCEC-US 13 115037712 115037712 single base substitution A G exon_variant UCEC-US 13 115037712 115037712 single base substitution A G missense_variant K408E 1222A>G UCEC-US 13 115037712 115037712 single base substitution A G missense_variant K459E 1375A>G UCEC-US 13 115037712 115037712 single base substitution A G missense_variant K552E 1654A>G UCEC-US 13 115037712 115037712 single base substitution A G missense_variant K553E 1657A>G UCEC-US 13 115037737 115037737 single base substitution C G exon_variant UCEC-US 13 115037737 115037737 single base substitution C G missense_variant P416R 1247C>G UCEC-US 13 115037737 115037737 single base substitution C G missense_variant P467R 1400C>G UCEC-US 13 115037737 115037737 single base substitution C G missense_variant P560R 1679C>G UCEC-US 13 115037737 115037737 single base substitution C G missense_variant P561R 1682C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 46M COSM5587464 c.445G>T p.A149S Substitution - Missense 13:114242184-114242184 + ME009T COSM223667 c.1254G>A p.W418* Substitution - Nonsense 13:114259338-114259338 + TCGA-D1-A17Q-01 COSM945691 c.1569C>T p.I523I Substitution - coding silent 13:114265206-114265206 + T2284 COSM4670634 c.1250+1G>A p.? Unknown 13:114257231-114257231 + I2L-P19Ta-Tumor-Organoid COSM5362130 c.419A>G p.Y140C Substitution - Missense 13:114242158-114242158 + TCGA-B5-A0JY-01 COSM945681 c.217C>T p.R73C Substitution - Missense 13:114239005-114239005 + TCGA-GM-A2DL-01 COSM3813496 c.1033G>T p.A345S Substitution - Missense 13:114250610-114250610 + HCT15 COSM1677828 c.1364G>A p.C455Y Substitution - Missense 13:114261936-114261936 + 394 COSM1661063 c.106G>A p.E36K Substitution - Missense 13:114236801-114236801 + pfg034T COSM4760396 c.667T>C p.S223P Substitution - Missense 13:114243889-114243889 + pfg129T COSM4760398 c.1051G>A p.D351N Substitution - Missense 13:114250628-114250628 + TCGA-DY-A0XA-01 COSM1562366 c.618G>A p.E206E Substitution - coding silent 13:114243333-114243333 + CPCG0001-F1 COSM3396100 c.1849G>T p.D617Y Substitution - Missense 13:114272429-114272429 + TCGA-CD-8536-01 COSM4046276 c.779A>G p.K260R Substitution - Missense 13:114244901-114244901 + 2557_PT COSM5754049 c.1288G>A p.E430K Substitution - Missense 13:114259372-114259372 + TCGA-D1-A16D-01 COSM945687 c.1240C>G p.Q414E Substitution - Missense 13:114257220-114257220 + TCGA-BS-A0TC-01 COSM945695 c.1682C>G p.P561R Substitution - Missense 13:114272262-114272262 + PA090 COSM1162388 c.253G>T p.E85* Substitution - Nonsense 13:114239362-114239362 + SNUH_G82_S1 COSM3999034 c.187C>T p.R63* Substitution - Nonsense 13:114236882-114236882 + ASHPC_0015_Pa_P COSM3786147 c.54G>A p.Q18Q Substitution - coding silent 13:114236650-114236650 + HCT-15 COSM1677827 c.902C>A p.S301Y Substitution - Missense 13:114246935-114246935 + PD23565a COSM5790741 c.160C>G p.H54D Substitution - Missense 13:114236855-114236855 + TCGA-AA-3814-01 COSM293868 c.604C>T p.R202C Substitution - Missense 13:114243319-114243319 + 2492724 COSM5725007 c.1232T>C p.V411A Substitution - Missense 13:114257212-114257212 + PD4975a COSM5768635 c.403C>G p.L135V Substitution - Missense 13:114242142-114242142 + PTC-7C COSM3999035 c.330C>T p.D110D Substitution - coding silent 13:114239439-114239439 + 326_CLM COSM5754049 c.1288G>A p.E430K Substitution - Missense 13:114259372-114259372 + T2269 COSM4670632 c.506T>C p.L169P Substitution - Missense 13:114242245-114242245 + TCGA-BR-4362-01 COSM4046275 c.485A>G p.Y162C Substitution - Missense 13:114242224-114242224 + TCGA-B5-A0K6-01 COSM945683 c.321C>A p.Y107* Substitution - Nonsense 13:114239430-114239430 + PT34 COSM5910819 c.241-8C>T p.? Unknown 13:114239342-114239342 + ccRCC-32 COSM1661063 c.106G>A p.E36K Substitution - Missense 13:114236801-114236801 + TCGA-GL-7773-01 COSM3987324 c.1242G>T p.Q414H Substitution - Missense 13:114257222-114257222 + TCGA-FU-A3HZ-01 COSM4839331 c.848-1G>T p.? Unknown 13:114245999-114245999 + HCT15 COSM1677827 c.902C>A p.S301Y Substitution - Missense 13:114246935-114246935 + HCC127T COSM5822731 c.814A>T p.I272L Substitution - Missense 13:114244936-114244936 + TCGA-AM-5821-01 COSM3753604 c.135G>A p.Q45Q Substitution - coding silent 13:114236830-114236830 + TCGA-B5-A0JY-01 COSM945693 c.1638C>T p.D546D Substitution - coding silent 13:114272218-114272218 + TCGA-BH-A2L8-01 COSM3813495 c.79G>C p.D27H Substitution - Missense 13:114236675-114236675 + CHC892T COSM4795414 c.130G>A p.A44T Substitution - Missense 13:114236825-114236825 + TCGA-HR-A2OH-01 COSM3467474 c.163A>G p.R55G Substitution - Missense 13:114236858-114236858 + TCGA-BS-A0UF-01 COSM945682 c.318A>C p.K106N Substitution - Missense 13:114239427-114239427 + pfg217T COSM4760397 c.1019A>G p.Y340C Substitution - Missense 13:114250596-114250596 + TCGA-CG-5721-01 COSM4046278 c.1224C>T p.V408V Substitution - coding silent 13:114257204-114257204 + TCGA-AZ-4315-01 COSM1365651 c.1637A>G p.D546G Substitution - Missense 13:114272217-114272217 + TCGA-AP-A059-01 COSM945692 c.1589C>T p.S530F Substitution - Missense 13:114265226-114265226 + TCGA-CM-6171-01 COSM1365650 c.1434C>T p.N478N Substitution - coding silent 13:114262936-114262936 + CHC1053T COSM217050 c.958A>G p.R320G Substitution - Missense 13:114246991-114246991 + TCGA-BR-8680-01 COSM274453 c.1570G>A p.E524K Substitution - Missense 13:114265207-114265207 + TCGA-29-1691-01 COSM1322957 c.859C>G p.L287V Substitution - Missense 13:114246011-114246011 + LS174T COSM2264711 c.1665delA p.N557fs*14 Deletion - Frameshift 13:114272245-114272245 + TCGA-HT-8564-01 COSM3968544 c.1091T>C p.M364T Substitution - Missense 13:114250668-114250668 + TCGA-HU-A4GT-01 COSM4046274 c.467C>T p.A156V Substitution - Missense 13:114242206-114242206 + TCGA-B5-A0K9-01 COSM945686 c.1034C>T p.A345V Substitution - Missense 13:114250611-114250611 + LS180 COSM2264711 c.1665delA p.N557fs*14 Deletion - Frameshift 13:114272245-114272245 + RK288_C01 COSM4780582 c.548A>T p.E183V Substitution - Missense 13:114243263-114243263 + LUAD-B00859 COSM355649 c.1761G>T p.R587S Substitution - Missense 13:114272341-114272341 + TCGA-CK-4951-01 COSM5052078 c.1295T>A p.I432N Substitution - Missense 13:114259379-114259379 + S02397 COSM5699085 c.1759A>T p.R587W Substitution - Missense 13:114272339-114272339 + PTC-7C COSM3999036 c.351T>C p.P117P Substitution - coding silent 13:114239460-114239460 + 587316 COSM1200336 c.1196C>T p.P399L Substitution - Missense 13:114257176-114257176 + HCT-15 COSM1677828 c.1364G>A p.C455Y Substitution - Missense 13:114261936-114261936 + 12M COSM5577321 c.1129G>A p.E377K Substitution - Missense 13:114257109-114257109 + TCGA-A3-3376-01 COSM469201 c.300T>G p.N100K Substitution - Missense 13:114239409-114239409 + CSCC-54-T COSM4472453 c.1784C>T p.S595F Substitution - Missense 13:114272364-114272364 + TCGA-BS-A0UV-01 COSM945688 c.1258A>G p.T420A Substitution - Missense 13:114259342-114259342 + TCGA-AY-6197-01 COSM5136337 c.94_97delCTCT p.S33fs*16 Deletion - Frameshift 13:114236690-114236693 + 587222 COSM1200337 c.261G>T p.Q87H Substitution - Missense 13:114239370-114239370 + 1N54-VS-1T54 COSM4976979 c.414A>T p.K138N Substitution - Missense 13:114242153-114242153 + TCGA-AX-A060-01 COSM945690 c.1512+2T>C p.? Unknown 13:114263016-114263016 + CPCG_0001_Pr_P_F0 COSM3396100 c.1849G>T p.D617Y Substitution - Missense 13:114272429-114272429 + TCGA-A6-6781-01 COSM5093690 c.1859C>T p.T620M Substitution - Missense 13:114272439-114272439 + 2492726 COSM5725007 c.1232T>C p.V411A Substitution - Missense 13:114257212-114257212 + WA16 COSM239237 c.1742C>T p.T581M Substitution - Missense 13:114272322-114272322 + 587222 COSM1200338 c.1528C>T p.R510* Substitution - Nonsense 13:114265165-114265165 + HCC100T COSM1606880 c.1387G>T p.E463* Substitution - Nonsense 13:114262889-114262889 + PD18285a COSM3770598 c.6C>G p.N2K Substitution - Missense 13:114235090-114235090 + TCGA-BR-8368-01 COSM4046279 c.1412C>T p.A471V Substitution - Missense 13:114262914-114262914 + TCGA-AM-5821-01 COSM3753605 c.1602T>C p.I534I Substitution - coding silent 13:114265239-114265239 + HCC100 COSM1606880 c.1387G>T p.E463* Substitution - Nonsense 13:114262889-114262889 + CHC1053T COSM217050 c.958A>G p.R320G Substitution - Missense 13:114246991-114246991 + 23_tFL COSM4170495 c.1845G>T p.M615I Substitution - Missense 13:114272425-114272425 + SNUH_G26_S1 COSM3999036 c.351T>C p.P117P Substitution - coding silent 13:114239460-114239460 + YUHAMA COSM5376463 c.685G>A p.E229K Substitution - Missense 13:114243907-114243907 + T3080 COSM4670635 c.1821T>C p.S607S Substitution - coding silent 13:114272401-114272401 + TCGA-A5-A0VP-01 COSM945694 c.1657A>G p.K553E Substitution - Missense 13:114272237-114272237 + pfg181T COSM4760399 c.1058C>T p.A353V Substitution - Missense 13:114250635-114250635 + 01-P034 COSM4575858 c.169G>A p.A57T Substitution - Missense 13:114236864-114236864 + TCGA-EI-6917-01 COSM2264692 c.305G>T p.R102I Substitution - Missense 13:114239414-114239414 + 1604875 COSM141420 c.223C>T p.L75F Substitution - Missense 13:114239011-114239011 + 2492725 COSM5725007 c.1232T>C p.V411A Substitution - Missense 13:114257212-114257212 + STC291 COSM5052078 c.1295T>A p.I432N Substitution - Missense 13:114259379-114259379 + SWE-54B COSM1178543 c.1861T>A p.*621R Nonstop extension 13:114272441-114272441 + pfg378T COSM4760400 c.1493C>T p.A498V Substitution - Missense 13:114262995-114262995 + TCGA-BR-8372-01 COSM4046277 c.937G>A p.G313S Substitution - Missense 13:114246970-114246970 + TCGA-59-2372-01 COSM1322956 c.1554G>C p.M518I Substitution - Missense 13:114265191-114265191 + TCGA-A6-6780-01 COSM1365652 c.1739T>G p.L580R Substitution - Missense 13:114272319-114272319 + TC71 COSM2264699 c.437G>A p.R146Q Substitution - Missense 13:114242176-114242176 + TCGA-AG-3892-01 COSM256579 c.501C>T p.F167F Substitution - coding silent 13:114242240-114242240 + TCGA-NH-A50V-01 COSM3999034 c.187C>T p.R63* Substitution - Nonsense 13:114236882-114236882 + PCSI_0100_Pa_P COSM3376495 c.783T>C p.D261D Substitution - coding silent 13:114244905-114244905 + TCGA-66-2785-01 COSM695909 c.721C>A p.H241N Substitution - Missense 13:114243943-114243943 + TCGA-AA-A00N-01 COSM274454 c.1685C>T p.P562L Substitution - Missense 13:114272265-114272265 + TCGA-AX-A05Z-01 COSM945685 c.605G>A p.R202H Substitution - Missense 13:114243320-114243320 + TCGA-AN-A046-01 COSM3813497 c.1828A>C p.M610L Substitution - Missense 13:114272408-114272408 + PTC-7C COSM3753604 c.135G>A p.Q45Q Substitution - coding silent 13:114236830-114236830 + 18472 COSM5616614 c.847+3A>G p.? Unknown 13:114244972-114244972 + YUZINO COSM1707054 c.1295T>G p.I432S Substitution - Missense 13:114259379-114259379 + CHC1053T COSM217050 c.958A>G p.R320G Substitution - Missense 13:114246991-114246991 + SNUH_G26_S1 COSM3999035 c.330C>T p.D110D Substitution - coding silent 13:114239439-114239439 + IGROV-1 COSM1677826 c.539A>G p.E180G Substitution - Missense 13:114242278-114242278 + 2492730 COSM5729044 c.1527G>A p.R509R Substitution - coding silent 13:114265164-114265164 + TCGA-FD-A3SJ-01 COSM3793157 c.1849G>C p.D617H Substitution - Missense 13:114272429-114272429 + TCGA-WS-AB45-01 COSM945689 c.1374_1376+1delTAAG p.? Unknown 13:114261946-114261949 + 13280 COSM5613657 c.836A>G p.N279S Substitution - Missense 13:114244958-114244958 + C113 COSM4441124 c.641A>C p.K214T Substitution - Missense 13:114243863-114243863 + TCGA-BP-4992-01 COSM469202 c.442C>A p.L148M Substitution - Missense 13:114242181-114242181 + TCGA-BG-A0VZ-01 COSM945689 c.1374_1376+1delTAAG p.? Unknown 13:114261946-114261949 + PT42 COSM5943872 c.968_971+40del44 p.? Unknown 13:114247001-114247044 + TCGA-BT-A20T-01 COSM416431 c.567C>T p.P189P Substitution - coding silent 13:114243282-114243282 + TCGA-AA-A00N-01 COSM274453 c.1570G>A p.E524K Substitution - Missense 13:114265207-114265207 + TCGA-EE-A29S-06 COSM3467475 c.1226G>T p.G409V Substitution - Missense 13:114257206-114257206 + RK308_C01 COSM3744076 c.1174A>C p.S392R Substitution - Missense 13:114257154-114257154 + CHC892T COSM4795414 c.130G>A p.A44T Substitution - Missense 13:114236825-114236825 + TCGA-AP-A051-01 COSM945684 c.407G>A p.R136H Substitution - Missense 13:114242146-114242146 + UM-SCC-4 COSM4599767 c.553C>A p.L185I Substitution - Missense 13:114243268-114243268 + T263 COSM4670633 c.913G>A p.V305M Substitution - Missense 13:114246946-114246946 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.374080;Hs.374093;Hs.374097;Hs.374124;Hs.374126;Hs.374127 13q34 603461

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.847+3A>G 13 115010447 NSCLC A G Missense p.K553E c.1657A>G 13 115037712 UCEC A G Missense p.N279S c.836A>G 13 115010433 NSCLC A G Missense p.R320G c.958A>G 13 115012466 HC A G Missense p.R55G c.163A>G 13 115002333 CM A - IntronicDeletion . c.201+47delA 13 115002411 ESCA C A Missense p.L148M c.442C>A 13 115007656 RCCC C G Missense p.P561R c.1682C>G 13 115037737 UCEC C G Missense p.Q414E c.1240C>G 13 115022695 UCEC C T Missense p.R202C c.604C>T 13 115008794 COREAD C T Nonsense p.Q18* c.52C>T 13 115002123 LUAD C T Synonymous p.A57A c.171C>T 13 115002341 CM C T Synonymous p.P189P c.567C>T 13 115008757 BLCA G A Missense p.E603K c.1807G>A 13 115037862 LUAD G A Nonsense p.W418* c.1254G>A 13 115024813 CM G T Missense p.G409V c.1226G>T 13 115022681 CM G T Missense p.S607I c.1820G>T 13 115037875 CM G T SpliceDonorSNV . c.103+1G>T 13 115002175 HNSC TAAG - SpliceDonorDeletion . c.1376+3_1376+6delAAGT 13 115027421 UCEC T C SpliceDonorSNV . c.1512+2T>C 13 115028491 UCEC T G IntronicSNV . c.848-11T>G 13 115011464 CM T G Missense p.N100K c.300T>G 13 115004884 RCCC