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 19 50059586 50059586 + Silent SNP G G A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr19:50059586G>A c.822C>T c.(820-822)atC>atT p.I274I BLCA 19 50059898 50059898 + Silent SNP G G A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr19:50059898G>A c.633C>T c.(631-633)cgC>cgT p.R211R BLCA 19 50060161 50060161 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr19:50060161C>T c.508G>A c.(508-510)Gaa>Aaa p.E170K BLCA 19 50060221 50060221 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr19:50060221G>A c.448C>T c.(448-450)Cct>Tct p.P150S BRCA 19 50059664 50059664 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 g.chr19:50059664G>A c.744C>T c.(742-744)ctC>ctT p.L248L BRCA 19 50060466 50060466 + Missense_Mutation SNP T T G TCGA-EW-A1OZ-01A-11D-A142-09 TCGA-EW-A1OZ-10A-01D-A142-09 g.chr19:50060466T>G c.299A>C c.(298-300)aAg>aCg p.K100T CESC 19 50059841 50059841 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr19:50059841C>G c.690G>C c.(688-690)ctG>ctC p.L230L COAD 19 50059648 50059648 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:50059648G>A c.760C>T c.(760-762)Ctg>Ttg p.L254L COAD 19 50062175 50062177 + In_Frame_Del DEL CTT CTT - TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr19:50062175_50062177delCTT c.235_237delAAG c.(235-237)aagdel p.K79del COAD 19 50063217 50063217 + Silent SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr19:50063217C>T c.150G>A c.(148-150)ctG>ctA p.L50L COAD 19 50063226 50063226 + Silent SNP A A G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr19:50063226A>G c.141T>C c.(139-141)tgT>tgC p.C47C COADREAD 19 50059648 50059648 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:50059648G>A c.760C>T c.(760-762)Ctg>Ttg p.L254L COADREAD 19 50062175 50062177 + In_Frame_Del DEL CTT CTT - TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr19:50062175_50062177delCTT c.235_237delAAG c.(235-237)aagdel p.K79del COADREAD 19 50063217 50063217 + Silent SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr19:50063217C>T c.150G>A c.(148-150)ctG>ctA p.L50L COADREAD 19 50063226 50063226 + Silent SNP A A G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr19:50063226A>G c.141T>C c.(139-141)tgT>tgC p.C47C DLBC 19 50063941 50063941 + Missense_Mutation SNP C C T TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr19:50063941C>T c.8G>A c.(7-9)cGg>cAg p.R3Q ESCA 19 50059641 50059641 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:50059641C>T c.767G>A c.(766-768)cGg>cAg p.R256Q GBM 19 50059597 50059597 + Missense_Mutation SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 g.chr19:50059597G>A c.811C>T c.(811-813)Cgc>Tgc p.R271C GBMLGG 19 50059597 50059597 + Missense_Mutation SNP G G A TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 g.chr19:50059597G>A c.811C>T c.(811-813)Cgc>Tgc p.R271C GBMLGG 19 50062189 50062189 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:50062189G>A c.223C>T c.(223-225)Ctg>Ttg p.L75L HNSC 19 50059064 50059064 + Missense_Mutation SNP C C A TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr19:50059064C>A c.850G>T c.(850-852)Gcg>Tcg p.A284S HNSC 19 50060443 50060443 + Nonsense_Mutation SNP G G A TCGA-CV-A6JN-01A-11D-A31L-08 TCGA-CV-A6JN-10A-01D-A31J-08 g.chr19:50060443G>A c.322C>T c.(322-324)Cag>Tag p.Q108* HNSC 19 50063282 50063282 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr19:50063282C>A c.85G>T c.(85-87)Ggg>Tgg p.G29W KICH 19 50059875 50059875 + Missense_Mutation SNP T T C TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr19:50059875T>C c.656A>G c.(655-657)gAg>gGg p.E219G KIPAN 19 50059875 50059875 + Missense_Mutation SNP T T C TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr19:50059875T>C c.656A>G c.(655-657)gAg>gGg p.E219G KIPAN 19 50060397 50060397 + Missense_Mutation SNP C C G TCGA-B2-4099-01A-02D-1458-08 TCGA-B2-4099-10A-01D-1458-08 g.chr19:50060397C>G c.368G>C c.(367-369)aGc>aCc p.S123T KIRC 19 50060397 50060397 + Missense_Mutation SNP C C G TCGA-B2-4099-01A-02D-1458-08 TCGA-B2-4099-10A-01D-1458-08 g.chr19:50060397C>G c.368G>C c.(367-369)aGc>aCc p.S123T LGG 19 50062189 50062189 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:50062189G>A c.223C>T c.(223-225)Ctg>Ttg p.L75L LIHC 19 50060189 50060189 + Silent SNP G G A TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr19:50060189G>A c.480C>T c.(478-480)ccC>ccT p.P160P LIHC 19 50063276 50063291 + Frame_Shift_Del DEL GGGTCCCATAGCCCGA GGGTCCCATAGCCCGA - TCGA-DD-AADL-01A-11D-A40R-10 TCGA-DD-AADL-10A-01D-A40U-10 g.chr19:50063276_50063291delGGGTCCCATAGCCCGA c.76_91delTCGGGCTATGGGACCC c.(76-93)tcgggctatgggacccagfs p.SGYGTQ26fs LUAD 19 50059812 50059812 + Missense_Mutation SNP C C G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr19:50059812C>G c.719G>C c.(718-720)cGg>cCg p.R240P LUAD 19 50062164 50062164 + Missense_Mutation SNP C C A TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr19:50062164C>A c.248G>T c.(247-249)cGg>cTg p.R83L PAAD 19 50060162 50060162 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:50060162G>A c.507C>T c.(505-507)ccC>ccT p.P169P PAAD 19 50060441 50060441 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:50060441C>A c.324G>T c.(322-324)caG>caT p.Q108H PRAD 19 50059642 50059642 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:50059642G>A c.766C>T c.(766-768)Cgg>Tgg p.R256W PRAD 19 50062167 50062167 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:50062167G>A c.245C>T c.(244-246)gCc>gTc p.A82V SKCM 19 50059050 50059050 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr19:50059050C>T c.864G>A c.(862-864)gtG>gtA p.V288V SKCM 19 50060140 50060140 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:50060140C>T c.529G>A c.(529-531)Gag>Aag p.E177K SKCM 19 50060402 50060402 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr19:50060402G>A c.363C>T c.(361-363)atC>atT p.I121I SKCM 19 50060403 50060403 + Missense_Mutation SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr19:50060403A>C c.362T>G c.(361-363)aTc>aGc p.I121S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 50086879 50086879 single base substitution G C intron_variant BLCA-CN 19 50086879 50086879 single base substitution G C upstream_gene_variant BLCA-CN 19 50093194 50093194 single base substitution C T intron_variant BLCA-US 19 50060221 50060221 single base substitution G A 3_prime_UTR_variant BLCA-US 19 50060221 50060221 single base substitution G A downstream_gene_variant BLCA-US 19 50060221 50060221 single base substitution G A exon_variant BLCA-US 19 50060221 50060221 single base substitution G A missense_variant P150S 448C>T BLCA-US 19 50060221 50060221 single base substitution G A missense_variant P153S 457C>T BLCA-US 19 50086939 50086939 single base substitution G A intron_variant BLCA-US 19 50086939 50086939 single base substitution G A upstream_gene_variant BRCA-EU 19 50054530 50054530 single base substitution C T downstream_gene_variant BRCA-EU 19 50055256 50055256 single base substitution C G downstream_gene_variant BRCA-EU 19 50056026 50056028 deletion of <=200bp CCA - downstream_gene_variant BRCA-EU 19 50056574 50056574 single base substitution G A downstream_gene_variant BRCA-EU 19 50057087 50057087 single base substitution G C downstream_gene_variant BRCA-EU 19 50057133 50057133 single base substitution G A downstream_gene_variant BRCA-EU 19 50059757 50059757 single base substitution C G downstream_gene_variant BRCA-EU 19 50059757 50059757 single base substitution C G exon_variant BRCA-EU 19 50059757 50059757 single base substitution C G intron_variant BRCA-EU 19 50060606 50060606 single base substitution C A 3_prime_UTR_variant BRCA-EU 19 50060606 50060606 single base substitution C A downstream_gene_variant BRCA-EU 19 50060606 50060606 single base substitution C A exon_variant BRCA-EU 19 50060606 50060606 single base substitution C A intron_variant BRCA-EU 19 50060606 50060606 single base substitution C A upstream_gene_variant BRCA-EU 19 50060852 50060852 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 50060852 50060852 single base substitution C T downstream_gene_variant BRCA-EU 19 50060852 50060852 single base substitution C T exon_variant BRCA-EU 19 50060852 50060852 single base substitution C T intron_variant BRCA-EU 19 50060852 50060852 single base substitution C T upstream_gene_variant BRCA-EU 19 50062184 50062184 single base substitution G T 3_prime_UTR_variant BRCA-EU 19 50062184 50062184 single base substitution G T downstream_gene_variant BRCA-EU 19 50062184 50062184 single base substitution G T exon_variant BRCA-EU 19 50062184 50062184 single base substitution G T missense_variant H76Q 228C>A BRCA-EU 19 50062184 50062184 single base substitution G T upstream_gene_variant BRCA-EU 19 50064118 50064118 single base substitution G A intron_variant BRCA-EU 19 50064118 50064118 single base substitution G A upstream_gene_variant BRCA-EU 19 50065019 50065019 single base substitution A C intron_variant BRCA-EU 19 50065019 50065019 single base substitution A C upstream_gene_variant BRCA-EU 19 50070757 50070757 single base substitution G C intron_variant BRCA-EU 19 50070770 50070770 single base substitution C A intron_variant BRCA-EU 19 50071097 50071097 single base substitution T G intron_variant BRCA-EU 19 50071620 50071620 single base substitution G C intron_variant BRCA-EU 19 50072176 50072176 single base substitution C T intron_variant BRCA-EU 19 50073024 50073024 single base substitution C A intron_variant BRCA-EU 19 50073055 50073055 single base substitution G A intron_variant BRCA-EU 19 50073297 50073297 single base substitution C T intron_variant BRCA-EU 19 50073803 50073803 single base substitution C A intron_variant BRCA-EU 19 50075692 50075692 single base substitution G T intron_variant BRCA-EU 19 50077414 50077414 single base substitution C T intron_variant BRCA-EU 19 50078422 50078422 single base substitution A G intron_variant BRCA-EU 19 50078452 50078452 single base substitution C A intron_variant BRCA-EU 19 50078462 50078462 single base substitution G T intron_variant BRCA-EU 19 50078605 50078605 single base substitution C A intron_variant BRCA-EU 19 50078819 50078819 single base substitution C G intron_variant BRCA-EU 19 50079846 50079847 deletion of <=200bp GA - intron_variant BRCA-EU 19 50082727 50082727 single base substitution C A intron_variant BRCA-EU 19 50082727 50082727 single base substitution C A upstream_gene_variant BRCA-EU 19 50083016 50083016 single base substitution G A intron_variant BRCA-EU 19 50083016 50083016 single base substitution G A upstream_gene_variant BRCA-EU 19 50083130 50083130 single base substitution G C intron_variant BRCA-EU 19 50083130 50083130 single base substitution G C upstream_gene_variant BRCA-EU 19 50084229 50084229 single base substitution G T intron_variant BRCA-EU 19 50084229 50084229 single base substitution G T upstream_gene_variant BRCA-EU 19 50084300 50084300 single base substitution C T intron_variant BRCA-EU 19 50084300 50084300 single base substitution C T upstream_gene_variant BRCA-EU 19 50084372 50084372 single base substitution C A intron_variant BRCA-EU 19 50084372 50084372 single base substitution C A upstream_gene_variant BRCA-EU 19 50084472 50084472 single base substitution C G intron_variant BRCA-EU 19 50084472 50084472 single base substitution C G upstream_gene_variant BRCA-EU 19 50085145 50085145 single base substitution C T intron_variant BRCA-EU 19 50085145 50085145 single base substitution C T upstream_gene_variant BRCA-EU 19 50086017 50086017 single base substitution C T intron_variant BRCA-EU 19 50086017 50086017 single base substitution C T upstream_gene_variant BRCA-EU 19 50086712 50086712 single base substitution C T intron_variant BRCA-EU 19 50086712 50086712 single base substitution C T upstream_gene_variant BRCA-EU 19 50086969 50086969 single base substitution C A intron_variant BRCA-EU 19 50086969 50086969 single base substitution C A upstream_gene_variant BRCA-EU 19 50087814 50087814 single base substitution C T intron_variant BRCA-EU 19 50087814 50087814 single base substitution C T upstream_gene_variant BRCA-EU 19 50088933 50088933 single base substitution T C intron_variant BRCA-EU 19 50089764 50089764 single base substitution C G intron_variant BRCA-EU 19 50090155 50090155 single base substitution C T intron_variant BRCA-EU 19 50090231 50090231 single base substitution G C intron_variant BRCA-EU 19 50091871 50091871 single base substitution A T intron_variant BRCA-EU 19 50092414 50092414 single base substitution C A intron_variant BRCA-EU 19 50092909 50092909 single base substitution G A intron_variant BRCA-EU 19 50093783 50093783 single base substitution C T upstream_gene_variant BRCA-EU 19 50094807 50094807 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 50095421 50095421 single base substitution C T upstream_gene_variant BRCA-EU 19 50096274 50096274 single base substitution A G upstream_gene_variant BRCA-EU 19 50096460 50096460 single base substitution T C upstream_gene_variant BRCA-EU 19 50096814 50096814 single base substitution C T upstream_gene_variant BRCA-EU 19 50096876 50096876 single base substitution C G upstream_gene_variant BRCA-EU 19 50097088 50097088 single base substitution C G upstream_gene_variant BRCA-FR 19 50077414 50077414 single base substitution C T intron_variant BRCA-FR 19 50078605 50078605 single base substitution C A intron_variant BRCA-FR 19 50078819 50078819 single base substitution C G intron_variant BRCA-FR 19 50079472 50079472 single base substitution C T intron_variant BRCA-FR 19 50086017 50086017 single base substitution C T intron_variant BRCA-FR 19 50086017 50086017 single base substitution C T upstream_gene_variant BRCA-FR 19 50088933 50088933 single base substitution T C intron_variant BRCA-FR 19 50089003 50089003 single base substitution G C intron_variant BRCA-FR 19 50089764 50089764 single base substitution C G intron_variant BRCA-KR 19 50098495 50098495 single base substitution A C upstream_gene_variant BRCA-UK 19 50072653 50072653 single base substitution C T intron_variant BRCA-UK 19 50087814 50087814 single base substitution C T intron_variant BRCA-UK 19 50087814 50087814 single base substitution C T upstream_gene_variant BRCA-US 19 50059664 50059664 single base substitution G A downstream_gene_variant BRCA-US 19 50059664 50059664 single base substitution G A exon_variant BRCA-US 19 50059664 50059664 single base substitution G A synonymous_variant L248L 744C>T BRCA-US 19 50059664 50059664 single base substitution G A synonymous_variant L251L 753C>T BRCA-US 19 50060466 50060466 single base substitution T G 3_prime_UTR_variant BRCA-US 19 50060466 50060466 single base substitution T G downstream_gene_variant BRCA-US 19 50060466 50060466 single base substitution T G exon_variant BRCA-US 19 50060466 50060466 single base substitution T G missense_variant K100T 299A>C BRCA-US 19 50091757 50091757 single base substitution G A intron_variant BRCA-US 19 50098208 50098208 single base substitution G A upstream_gene_variant BTCA-JP 19 50063886 50063888 deletion of <=200bp CTT - exon_loss_variant BTCA-JP 19 50063886 50063888 deletion of <=200bp CTT - exon_variant BTCA-JP 19 50063886 50063888 deletion of <=200bp CTT - inframe_deletion K21 BTCA-JP 19 50063886 50063888 deletion of <=200bp CTT - upstream_gene_variant BTCA-JP 19 50092978 50092978 single base substitution G C intron_variant BTCA-JP 19 50096741 50096741 single base substitution C T upstream_gene_variant CESC-US 19 50059841 50059841 single base substitution C G downstream_gene_variant CESC-US 19 50059841 50059841 single base substitution C G exon_variant CESC-US 19 50059841 50059841 single base substitution C G intron_variant CESC-US 19 50059841 50059841 single base substitution C G synonymous_variant L176L 528G>C CESC-US 19 50059841 50059841 single base substitution C G synonymous_variant L230L 690G>C CESC-US 19 50059841 50059841 single base substitution C G synonymous_variant L233L 699G>C CESC-US 19 50086923 50086923 single base substitution G T intron_variant CESC-US 19 50086923 50086923 single base substitution G T upstream_gene_variant CESC-US 19 50093638 50093638 single base substitution C G upstream_gene_variant CESC-US 19 50098327 50098327 single base substitution C G upstream_gene_variant COAD-US 19 50059648 50059648 single base substitution G A downstream_gene_variant COAD-US 19 50059648 50059648 single base substitution G A exon_variant COAD-US 19 50059648 50059648 single base substitution G A synonymous_variant L254L 760C>T COAD-US 19 50059648 50059648 single base substitution G A synonymous_variant L257L 769C>T COAD-US 19 50062175 50062177 deletion of <=200bp CTT - 3_prime_UTR_variant COAD-US 19 50062175 50062177 deletion of <=200bp CTT - downstream_gene_variant COAD-US 19 50062175 50062177 deletion of <=200bp CTT - exon_variant COAD-US 19 50062175 50062177 deletion of <=200bp CTT - inframe_deletion K79 COAD-US 19 50062175 50062177 deletion of <=200bp CTT - upstream_gene_variant COAD-US 19 50087198 50087198 insertion of <=200bp - T intron_variant COAD-US 19 50087198 50087198 insertion of <=200bp - T upstream_gene_variant COAD-US 19 50093217 50093217 insertion of <=200bp - CCACCC intron_variant COAD-US 19 50097963 50097963 single base substitution C T upstream_gene_variant COAD-US 19 50098021 50098021 single base substitution G A upstream_gene_variant COCA-CN 19 50062293 50062293 single base substitution C T downstream_gene_variant COCA-CN 19 50062293 50062293 single base substitution C T intron_variant COCA-CN 19 50062293 50062293 single base substitution C T upstream_gene_variant COCA-CN 19 50080804 50080804 single base substitution G A intron_variant COCA-CN 19 50086810 50086810 single base substitution G T intron_variant COCA-CN 19 50086810 50086810 single base substitution G T upstream_gene_variant COCA-CN 19 50086907 50086907 single base substitution G A intron_variant COCA-CN 19 50086907 50086907 single base substitution G A upstream_gene_variant COCA-CN 19 50091754 50091754 single base substitution G A intron_variant COCA-CN 19 50093574 50093574 single base substitution G A upstream_gene_variant COCA-CN 19 50098351 50098351 single base substitution T C upstream_gene_variant COCA-CN 19 50098389 50098389 single base substitution A G upstream_gene_variant COCA-CN 19 50098422 50098422 single base substitution C T upstream_gene_variant EOPC-DE 19 50061071 50061071 single base substitution G A 3_prime_UTR_variant EOPC-DE 19 50061071 50061071 single base substitution G A downstream_gene_variant EOPC-DE 19 50061071 50061071 single base substitution G A exon_variant EOPC-DE 19 50061071 50061071 single base substitution G A intron_variant EOPC-DE 19 50061071 50061071 single base substitution G A upstream_gene_variant EOPC-DE 19 50069562 50069562 single base substitution C T intron_variant ESAD-UK 19 50054179 50054179 single base substitution G T downstream_gene_variant ESAD-UK 19 50056786 50056786 single base substitution G A downstream_gene_variant ESAD-UK 19 50058073 50058073 single base substitution G A downstream_gene_variant ESAD-UK 19 50059918 50059918 single base substitution G A downstream_gene_variant ESAD-UK 19 50059918 50059918 single base substitution G A exon_variant ESAD-UK 19 50059918 50059918 single base substitution G A intron_variant ESAD-UK 19 50059918 50059918 single base substitution G A splice_region_variant ESAD-UK 19 50059918 50059918 single base substitution G A synonymous_variant L205L 613C>T ESAD-UK 19 50059918 50059918 single base substitution G A synonymous_variant L208L 622C>T ESAD-UK 19 50061051 50061051 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 50061051 50061051 single base substitution C T downstream_gene_variant ESAD-UK 19 50061051 50061051 single base substitution C T exon_variant ESAD-UK 19 50061051 50061051 single base substitution C T intron_variant ESAD-UK 19 50061051 50061051 single base substitution C T upstream_gene_variant ESAD-UK 19 50068850 50068850 single base substitution T A intron_variant ESAD-UK 19 50068850 50068850 single base substitution T A upstream_gene_variant ESAD-UK 19 50069542 50069542 single base substitution G T intron_variant ESAD-UK 19 50071683 50071683 single base substitution G C intron_variant ESAD-UK 19 50072351 50072351 single base substitution G A intron_variant ESAD-UK 19 50072418 50072418 single base substitution C T intron_variant ESAD-UK 19 50074850 50074850 single base substitution G A intron_variant ESAD-UK 19 50075404 50075404 single base substitution C T intron_variant ESAD-UK 19 50075562 50075562 single base substitution C A intron_variant ESAD-UK 19 50077048 50077048 insertion of <=200bp - TATG intron_variant ESAD-UK 19 50079087 50079087 single base substitution T C intron_variant ESAD-UK 19 50081770 50081770 single base substitution A G intron_variant ESAD-UK 19 50081945 50081945 single base substitution C T intron_variant ESAD-UK 19 50083577 50083577 single base substitution C T intron_variant ESAD-UK 19 50083577 50083577 single base substitution C T upstream_gene_variant ESAD-UK 19 50084096 50084096 single base substitution A T intron_variant ESAD-UK 19 50084096 50084096 single base substitution A T upstream_gene_variant ESAD-UK 19 50086833 50086833 single base substitution C T intron_variant ESAD-UK 19 50086833 50086833 single base substitution C T upstream_gene_variant ESAD-UK 19 50087225 50087225 single base substitution A C intron_variant ESAD-UK 19 50087225 50087225 single base substitution A C upstream_gene_variant ESAD-UK 19 50092182 50092182 single base substitution T C intron_variant ESAD-UK 19 50094555 50094555 single base substitution C T upstream_gene_variant ESCA-CN 19 50059858 50059858 single base substitution C T downstream_gene_variant ESCA-CN 19 50059858 50059858 single base substitution C T exon_variant ESCA-CN 19 50059858 50059858 single base substitution C T intron_variant ESCA-CN 19 50059858 50059858 single base substitution C T missense_variant V171M 511G>A ESCA-CN 19 50059858 50059858 single base substitution C T missense_variant V225M 673G>A ESCA-CN 19 50059858 50059858 single base substitution C T missense_variant V228M 682G>A GBM-US 19 50059597 50059597 single base substitution G A downstream_gene_variant GBM-US 19 50059597 50059597 single base substitution G A exon_variant GBM-US 19 50059597 50059597 single base substitution G A missense_variant R271C 811C>T GBM-US 19 50059597 50059597 single base substitution G A missense_variant R274C 820C>T KIRC-US 19 50060397 50060397 single base substitution C G 3_prime_UTR_variant KIRC-US 19 50060397 50060397 single base substitution C G downstream_gene_variant KIRC-US 19 50060397 50060397 single base substitution C G exon_variant KIRC-US 19 50060397 50060397 single base substitution C G missense_variant S123T 368G>C KIRC-US 19 50093217 50093217 insertion of <=200bp - CCACCC intron_variant KIRP-US 19 50063190 50063190 single base substitution C G exon_variant KIRP-US 19 50063190 50063190 single base substitution C G splice_donor_variant KIRP-US 19 50063190 50063190 single base substitution C G upstream_gene_variant KIRP-US 19 50097991 50097991 single base substitution G C upstream_gene_variant LAML-KR 19 50054414 50054414 single base substitution C T downstream_gene_variant LAML-KR 19 50070348 50070348 single base substitution T C intron_variant LAML-KR 19 50070353 50070353 single base substitution A G intron_variant LAML-KR 19 50087446 50087446 single base substitution G T intron_variant LAML-KR 19 50087446 50087446 single base substitution G T upstream_gene_variant LGG-US 19 50098329 50098329 single base substitution A G upstream_gene_variant LICA-CN 19 50096619 50096619 single base substitution A T upstream_gene_variant LICA-FR 19 50060500 50060500 single base substitution C T 3_prime_UTR_variant LICA-FR 19 50060500 50060500 single base substitution C T downstream_gene_variant LICA-FR 19 50060500 50060500 single base substitution C T exon_variant LICA-FR 19 50060500 50060500 single base substitution C T missense_variant E89K 265G>A LICA-FR 19 50069808 50069808 single base substitution T C intron_variant LICA-FR 19 50095650 50095650 single base substitution C T upstream_gene_variant LINC-JP 19 50060096 50060096 single base substitution T A downstream_gene_variant LINC-JP 19 50060096 50060096 single base substitution T A exon_variant LINC-JP 19 50060096 50060096 single base substitution T A intron_variant LINC-JP 19 50060736 50060736 single base substitution A G 3_prime_UTR_variant LINC-JP 19 50060736 50060736 single base substitution A G downstream_gene_variant LINC-JP 19 50060736 50060736 single base substitution A G exon_variant LINC-JP 19 50060736 50060736 single base substitution A G intron_variant LINC-JP 19 50060736 50060736 single base substitution A G upstream_gene_variant LINC-JP 19 50063139 50063139 single base substitution C T exon_variant LINC-JP 19 50063139 50063139 single base substitution C T intron_variant LINC-JP 19 50063139 50063139 single base substitution C T upstream_gene_variant LIRI-JP 19 50055340 50055340 single base substitution A C downstream_gene_variant LIRI-JP 19 50056553 50056553 single base substitution C T downstream_gene_variant LIRI-JP 19 50056615 50056615 single base substitution A G downstream_gene_variant LIRI-JP 19 50057388 50057388 single base substitution T C downstream_gene_variant LIRI-JP 19 50057457 50057457 single base substitution T C downstream_gene_variant LIRI-JP 19 50057602 50057602 single base substitution A C downstream_gene_variant LIRI-JP 19 50059907 50059907 single base substitution G T 3_prime_UTR_variant LIRI-JP 19 50059907 50059907 single base substitution G T downstream_gene_variant LIRI-JP 19 50059907 50059907 single base substitution G T exon_variant LIRI-JP 19 50059907 50059907 single base substitution G T intron_variant LIRI-JP 19 50059907 50059907 single base substitution G T synonymous_variant S154S 462C>A LIRI-JP 19 50059907 50059907 single base substitution G T synonymous_variant S208S 624C>A LIRI-JP 19 50059907 50059907 single base substitution G T synonymous_variant S211S 633C>A LIRI-JP 19 50060567 50060567 single base substitution T G 3_prime_UTR_variant LIRI-JP 19 50060567 50060567 single base substitution T G downstream_gene_variant LIRI-JP 19 50060567 50060567 single base substitution T G exon_variant LIRI-JP 19 50060567 50060567 single base substitution T G intron_variant LIRI-JP 19 50060567 50060567 single base substitution T G upstream_gene_variant LIRI-JP 19 50061094 50061094 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 19 50061094 50061094 insertion of <=200bp - A downstream_gene_variant LIRI-JP 19 50061094 50061094 insertion of <=200bp - A exon_variant LIRI-JP 19 50061094 50061094 insertion of <=200bp - A intron_variant LIRI-JP 19 50061094 50061094 insertion of <=200bp - A upstream_gene_variant LIRI-JP 19 50063874 50063874 single base substitution T G intron_variant LIRI-JP 19 50063874 50063874 single base substitution T G splice_region_variant LIRI-JP 19 50063874 50063874 single base substitution T G upstream_gene_variant LIRI-JP 19 50065054 50065054 single base substitution C T intron_variant LIRI-JP 19 50065054 50065054 single base substitution C T upstream_gene_variant LIRI-JP 19 50067997 50067997 single base substitution T C intron_variant LIRI-JP 19 50067997 50067997 single base substitution T C upstream_gene_variant LIRI-JP 19 50069756 50069756 single base substitution C A intron_variant LIRI-JP 19 50069853 50069853 single base substitution C A intron_variant LIRI-JP 19 50077808 50077808 single base substitution C A intron_variant LIRI-JP 19 50078917 50078917 single base substitution C T intron_variant LIRI-JP 19 50079500 50079500 single base substitution G C intron_variant LIRI-JP 19 50080474 50080474 single base substitution T C intron_variant LIRI-JP 19 50081615 50081615 single base substitution A T intron_variant LIRI-JP 19 50085621 50085621 single base substitution C G intron_variant LIRI-JP 19 50085621 50085621 single base substitution C G upstream_gene_variant LUSC-KR 19 50054029 50054029 single base substitution A C downstream_gene_variant LUSC-KR 19 50063059 50063059 single base substitution G C exon_variant LUSC-KR 19 50063059 50063059 single base substitution G C intron_variant LUSC-KR 19 50063059 50063059 single base substitution G C upstream_gene_variant LUSC-KR 19 50072270 50072270 single base substitution C T intron_variant LUSC-KR 19 50081131 50081131 single base substitution C T intron_variant LUSC-KR 19 50082433 50082433 single base substitution G T 5_prime_UTR_variant LUSC-KR 19 50082433 50082433 single base substitution G T intron_variant LUSC-KR 19 50082833 50082833 single base substitution C G intron_variant LUSC-KR 19 50082833 50082833 single base substitution C G upstream_gene_variant LUSC-KR 19 50083879 50083879 single base substitution C T intron_variant LUSC-KR 19 50083879 50083879 single base substitution C T upstream_gene_variant LUSC-KR 19 50087538 50087538 single base substitution C T intron_variant LUSC-KR 19 50087538 50087538 single base substitution C T upstream_gene_variant LUSC-KR 19 50092703 50092703 single base substitution T A intron_variant LUSC-KR 19 50093161 50093161 single base substitution G A intron_variant LUSC-KR 19 50093579 50093579 single base substitution A G upstream_gene_variant LUSC-KR 19 50095232 50095232 single base substitution T G upstream_gene_variant LUSC-KR 19 50096687 50096687 single base substitution C A upstream_gene_variant LUSC-US 19 50097967 50097967 single base substitution A T upstream_gene_variant MALY-DE 19 50058267 50058267 single base substitution G A downstream_gene_variant MALY-DE 19 50061112 50061112 insertion of <=200bp - GA 3_prime_UTR_variant MALY-DE 19 50061112 50061112 insertion of <=200bp - GA downstream_gene_variant MALY-DE 19 50061112 50061112 insertion of <=200bp - GA exon_variant MALY-DE 19 50061112 50061112 insertion of <=200bp - GA intron_variant MALY-DE 19 50061112 50061112 insertion of <=200bp - GA upstream_gene_variant MALY-DE 19 50072054 50072054 single base substitution A T intron_variant MALY-DE 19 50084799 50084799 single base substitution C T intron_variant MALY-DE 19 50084799 50084799 single base substitution C T upstream_gene_variant MALY-DE 19 50084886 50084886 single base substitution T G intron_variant MALY-DE 19 50084886 50084886 single base substitution T G upstream_gene_variant MALY-DE 19 50088213 50088213 single base substitution C T intron_variant MALY-DE 19 50088213 50088213 single base substitution C T upstream_gene_variant MELA-AU 19 50054200 50054200 single base substitution C T downstream_gene_variant MELA-AU 19 50054487 50054487 single base substitution G T downstream_gene_variant MELA-AU 19 50055044 50055044 single base substitution G A downstream_gene_variant MELA-AU 19 50055063 50055063 single base substitution C T downstream_gene_variant MELA-AU 19 50056575 50056575 single base substitution G A downstream_gene_variant MELA-AU 19 50056668 50056668 single base substitution G A downstream_gene_variant MELA-AU 19 50057131 50057131 single base substitution G A downstream_gene_variant MELA-AU 19 50057139 50057140 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 50057242 50057242 single base substitution G A downstream_gene_variant MELA-AU 19 50058650 50058651 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 50059145 50059145 single base substitution G A downstream_gene_variant MELA-AU 19 50059145 50059145 single base substitution G A intron_variant MELA-AU 19 50060232 50060232 single base substitution G A 3_prime_UTR_variant MELA-AU 19 50060232 50060232 single base substitution G A downstream_gene_variant MELA-AU 19 50060232 50060232 single base substitution G A exon_variant MELA-AU 19 50060232 50060232 single base substitution G A missense_variant P146L 437C>T MELA-AU 19 50060232 50060232 single base substitution G A missense_variant P149L 446C>T MELA-AU 19 50060637 50060637 single base substitution A G 3_prime_UTR_variant MELA-AU 19 50060637 50060637 single base substitution A G downstream_gene_variant MELA-AU 19 50060637 50060637 single base substitution A G exon_variant MELA-AU 19 50060637 50060637 single base substitution A G intron_variant MELA-AU 19 50060637 50060637 single base substitution A G upstream_gene_variant MELA-AU 19 50060960 50060960 single base substitution C T 3_prime_UTR_variant MELA-AU 19 50060960 50060960 single base substitution C T downstream_gene_variant MELA-AU 19 50060960 50060960 single base substitution C T exon_variant MELA-AU 19 50060960 50060960 single base substitution C T intron_variant MELA-AU 19 50060960 50060960 single base substitution C T upstream_gene_variant MELA-AU 19 50060964 50060964 single base substitution G A 3_prime_UTR_variant MELA-AU 19 50060964 50060964 single base substitution G A downstream_gene_variant MELA-AU 19 50060964 50060964 single base substitution G A exon_variant MELA-AU 19 50060964 50060964 single base substitution G A intron_variant MELA-AU 19 50060964 50060964 single base substitution G A upstream_gene_variant MELA-AU 19 50061177 50061177 single base substitution G A 3_prime_UTR_variant MELA-AU 19 50061177 50061177 single base substitution G A downstream_gene_variant MELA-AU 19 50061177 50061177 single base substitution G A exon_variant MELA-AU 19 50061177 50061177 single base substitution G A intron_variant MELA-AU 19 50061177 50061177 single base substitution G A upstream_gene_variant MELA-AU 19 50062032 50062032 single base substitution G A downstream_gene_variant MELA-AU 19 50062032 50062032 single base substitution G A exon_variant MELA-AU 19 50062032 50062032 single base substitution G A intron_variant MELA-AU 19 50062032 50062032 single base substitution G A upstream_gene_variant MELA-AU 19 50062412 50062412 single base substitution G A downstream_gene_variant MELA-AU 19 50062412 50062412 single base substitution G A intron_variant MELA-AU 19 50062412 50062412 single base substitution G A upstream_gene_variant MELA-AU 19 50063791 50063791 single base substitution G A intron_variant MELA-AU 19 50063791 50063791 single base substitution G A upstream_gene_variant MELA-AU 19 50064047 50064047 single base substitution G A intron_variant MELA-AU 19 50064047 50064047 single base substitution G A upstream_gene_variant MELA-AU 19 50064976 50064976 single base substitution T G intron_variant MELA-AU 19 50064976 50064976 single base substitution T G upstream_gene_variant MELA-AU 19 50065084 50065084 single base substitution G T intron_variant MELA-AU 19 50065084 50065084 single base substitution G T upstream_gene_variant MELA-AU 19 50065784 50065784 single base substitution C T intron_variant MELA-AU 19 50065784 50065784 single base substitution C T upstream_gene_variant MELA-AU 19 50066671 50066671 single base substitution G A intron_variant MELA-AU 19 50066671 50066671 single base substitution G A upstream_gene_variant MELA-AU 19 50066884 50066884 single base substitution G A intron_variant MELA-AU 19 50066884 50066884 single base substitution G A upstream_gene_variant MELA-AU 19 50067197 50067197 single base substitution G A intron_variant MELA-AU 19 50067197 50067197 single base substitution G A upstream_gene_variant MELA-AU 19 50067962 50067962 single base substitution G A intron_variant MELA-AU 19 50067962 50067962 single base substitution G A upstream_gene_variant MELA-AU 19 50068347 50068347 single base substitution A G intron_variant MELA-AU 19 50068347 50068347 single base substitution A G upstream_gene_variant MELA-AU 19 50068507 50068507 single base substitution G A intron_variant MELA-AU 19 50068507 50068507 single base substitution G A upstream_gene_variant MELA-AU 19 50069131 50069131 single base substitution G A intron_variant MELA-AU 19 50069185 50069185 single base substitution C T intron_variant MELA-AU 19 50070034 50070034 single base substitution A T intron_variant MELA-AU 19 50070060 50070060 single base substitution A G intron_variant MELA-AU 19 50070804 50070804 single base substitution G A intron_variant MELA-AU 19 50071712 50071712 insertion of <=200bp - G intron_variant MELA-AU 19 50071785 50071785 single base substitution T C intron_variant MELA-AU 19 50072586 50072586 single base substitution G A intron_variant MELA-AU 19 50072994 50072995 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 50073497 50073497 single base substitution G A intron_variant MELA-AU 19 50073609 50073609 single base substitution G A intron_variant MELA-AU 19 50074084 50074084 single base substitution G A intron_variant MELA-AU 19 50074235 50074235 single base substitution T A intron_variant MELA-AU 19 50074540 50074540 single base substitution G A intron_variant MELA-AU 19 50075068 50075069 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 50075644 50075644 single base substitution A C intron_variant MELA-AU 19 50075873 50075873 single base substitution G A intron_variant MELA-AU 19 50076128 50076128 single base substitution G A intron_variant MELA-AU 19 50076683 50076683 single base substitution G A intron_variant MELA-AU 19 50077004 50077004 single base substitution G A intron_variant MELA-AU 19 50077270 50077270 single base substitution C T intron_variant MELA-AU 19 50077570 50077570 single base substitution A G intron_variant MELA-AU 19 50078676 50078676 single base substitution G A intron_variant MELA-AU 19 50079291 50079291 single base substitution C T intron_variant MELA-AU 19 50079667 50079667 single base substitution A T intron_variant MELA-AU 19 50079825 50079825 single base substitution G A intron_variant MELA-AU 19 50079908 50079908 single base substitution G A intron_variant MELA-AU 19 50080878 50080878 deletion of <=200bp G - intron_variant MELA-AU 19 50080882 50080882 single base substitution G A intron_variant MELA-AU 19 50080949 50080949 single base substitution G A intron_variant MELA-AU 19 50082274 50082274 single base substitution G A intron_variant MELA-AU 19 50083168 50083168 single base substitution C T intron_variant MELA-AU 19 50083168 50083168 single base substitution C T upstream_gene_variant MELA-AU 19 50083289 50083289 single base substitution G A intron_variant MELA-AU 19 50083289 50083289 single base substitution G A upstream_gene_variant MELA-AU 19 50083393 50083393 single base substitution A G intron_variant MELA-AU 19 50083393 50083393 single base substitution A G upstream_gene_variant MELA-AU 19 50083829 50083830 multiple base substitution (>=2bp and <=200bp) AG TA 5_prime_UTR_variant MELA-AU 19 50083829 50083830 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 19 50083829 50083830 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 19 50083830 50083830 single base substitution G A intron_variant MELA-AU 19 50083830 50083830 single base substitution G A upstream_gene_variant MELA-AU 19 50083830 50083830 single base substitution G C intron_variant MELA-AU 19 50083830 50083830 single base substitution G C upstream_gene_variant MELA-AU 19 50083849 50083849 single base substitution C T intron_variant MELA-AU 19 50083849 50083849 single base substitution C T upstream_gene_variant MELA-AU 19 50083859 50083859 single base substitution C T intron_variant MELA-AU 19 50083859 50083859 single base substitution C T upstream_gene_variant MELA-AU 19 50083864 50083864 single base substitution C T intron_variant MELA-AU 19 50083864 50083864 single base substitution C T upstream_gene_variant MELA-AU 19 50083864 50083865 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 50083864 50083865 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 50083884 50083884 single base substitution G A intron_variant MELA-AU 19 50083884 50083884 single base substitution G A upstream_gene_variant MELA-AU 19 50083892 50083892 single base substitution G A intron_variant MELA-AU 19 50083892 50083892 single base substitution G A upstream_gene_variant MELA-AU 19 50083908 50083908 single base substitution G A intron_variant MELA-AU 19 50083908 50083908 single base substitution G A upstream_gene_variant MELA-AU 19 50083911 50083911 single base substitution G A intron_variant MELA-AU 19 50083911 50083911 single base substitution G A upstream_gene_variant MELA-AU 19 50083917 50083917 single base substitution C T intron_variant MELA-AU 19 50083917 50083917 single base substitution C T upstream_gene_variant MELA-AU 19 50083956 50083956 single base substitution C T intron_variant MELA-AU 19 50083956 50083956 single base substitution C T upstream_gene_variant MELA-AU 19 50083985 50083985 single base substitution C T intron_variant MELA-AU 19 50083985 50083985 single base substitution C T upstream_gene_variant MELA-AU 19 50084093 50084093 single base substitution C T intron_variant MELA-AU 19 50084093 50084093 single base substitution C T upstream_gene_variant MELA-AU 19 50084617 50084618 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 50084617 50084618 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 50085391 50085391 single base substitution G A intron_variant MELA-AU 19 50085391 50085391 single base substitution G A upstream_gene_variant MELA-AU 19 50085893 50085893 single base substitution G A intron_variant MELA-AU 19 50085893 50085893 single base substitution G A upstream_gene_variant MELA-AU 19 50085920 50085920 single base substitution C T intron_variant MELA-AU 19 50085920 50085920 single base substitution C T upstream_gene_variant MELA-AU 19 50086079 50086079 single base substitution C T intron_variant MELA-AU 19 50086079 50086079 single base substitution C T upstream_gene_variant MELA-AU 19 50086414 50086414 single base substitution C T intron_variant MELA-AU 19 50086414 50086414 single base substitution C T upstream_gene_variant MELA-AU 19 50086493 50086493 single base substitution C T intron_variant MELA-AU 19 50086493 50086493 single base substitution C T upstream_gene_variant MELA-AU 19 50086643 50086643 single base substitution C T intron_variant MELA-AU 19 50086643 50086643 single base substitution C T upstream_gene_variant MELA-AU 19 50086755 50086755 single base substitution C T intron_variant MELA-AU 19 50086755 50086755 single base substitution C T upstream_gene_variant MELA-AU 19 50086873 50086873 single base substitution G A intron_variant MELA-AU 19 50086873 50086873 single base substitution G A upstream_gene_variant MELA-AU 19 50087166 50087166 single base substitution C T intron_variant MELA-AU 19 50087166 50087166 single base substitution C T upstream_gene_variant MELA-AU 19 50087829 50087829 single base substitution G A intron_variant MELA-AU 19 50087829 50087829 single base substitution G A upstream_gene_variant MELA-AU 19 50087963 50087963 single base substitution C T intron_variant MELA-AU 19 50087963 50087963 single base substitution C T upstream_gene_variant MELA-AU 19 50088115 50088115 single base substitution G A intron_variant MELA-AU 19 50088115 50088115 single base substitution G A upstream_gene_variant MELA-AU 19 50088349 50088349 single base substitution C T intron_variant MELA-AU 19 50088349 50088349 single base substitution C T upstream_gene_variant MELA-AU 19 50088358 50088358 single base substitution C T intron_variant MELA-AU 19 50088358 50088358 single base substitution C T upstream_gene_variant MELA-AU 19 50088417 50088417 single base substitution C T intron_variant MELA-AU 19 50088417 50088417 single base substitution C T upstream_gene_variant MELA-AU 19 50088542 50088542 single base substitution C T intron_variant MELA-AU 19 50088542 50088542 single base substitution C T upstream_gene_variant MELA-AU 19 50089240 50089240 single base substitution G A intron_variant MELA-AU 19 50089251 50089251 single base substitution C T intron_variant MELA-AU 19 50089364 50089364 single base substitution G A intron_variant MELA-AU 19 50089530 50089530 single base substitution G A intron_variant MELA-AU 19 50090328 50090328 single base substitution C T intron_variant MELA-AU 19 50090337 50090337 single base substitution C T intron_variant MELA-AU 19 50090381 50090381 single base substitution C T intron_variant MELA-AU 19 50090851 50090851 single base substitution G A intron_variant MELA-AU 19 50091363 50091363 single base substitution C T intron_variant MELA-AU 19 50091438 50091438 single base substitution C T intron_variant MELA-AU 19 50091690 50091690 single base substitution A G intron_variant MELA-AU 19 50091716 50091716 single base substitution C T intron_variant MELA-AU 19 50091718 50091718 single base substitution C T intron_variant MELA-AU 19 50091747 50091747 single base substitution C T intron_variant MELA-AU 19 50091842 50091842 single base substitution G A intron_variant MELA-AU 19 50091883 50091883 single base substitution C T intron_variant MELA-AU 19 50092132 50092132 single base substitution C T intron_variant MELA-AU 19 50093416 50093417 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 19 50093499 50093499 single base substitution G A 5_prime_UTR_variant MELA-AU 19 50093743 50093744 multiple base substitution (>=2bp and <=200bp) GA AT upstream_gene_variant MELA-AU 19 50096066 50096066 single base substitution C T upstream_gene_variant MELA-AU 19 50096265 50096265 single base substitution C T upstream_gene_variant MELA-AU 19 50096472 50096473 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 50096509 50096509 single base substitution C T upstream_gene_variant MELA-AU 19 50096744 50096744 single base substitution C T upstream_gene_variant MELA-AU 19 50097076 50097076 single base substitution G A upstream_gene_variant MELA-AU 19 50097358 50097358 single base substitution G A upstream_gene_variant MELA-AU 19 50097612 50097612 single base substitution C T upstream_gene_variant MELA-AU 19 50097675 50097675 single base substitution C T upstream_gene_variant MELA-AU 19 50097901 50097901 single base substitution A T upstream_gene_variant MELA-AU 19 50098063 50098063 single base substitution C T upstream_gene_variant ORCA-IN 19 50084616 50084616 single base substitution G C intron_variant ORCA-IN 19 50084616 50084616 single base substitution G C upstream_gene_variant ORCA-IN 19 50091830 50091830 single base substitution G C intron_variant OV-AU 19 50058138 50058138 single base substitution G A downstream_gene_variant OV-AU 19 50064274 50064274 single base substitution T C intron_variant OV-AU 19 50064274 50064274 single base substitution T C upstream_gene_variant OV-AU 19 50080480 50080480 single base substitution C A intron_variant OV-AU 19 50083205 50083205 single base substitution G T intron_variant OV-AU 19 50083205 50083205 single base substitution G T upstream_gene_variant OV-AU 19 50083889 50083889 single base substitution A G intron_variant OV-AU 19 50083889 50083889 single base substitution A G upstream_gene_variant OV-AU 19 50083968 50083968 single base substitution T C intron_variant OV-AU 19 50083968 50083968 single base substitution T C upstream_gene_variant OV-AU 19 50085454 50085454 single base substitution C T intron_variant OV-AU 19 50085454 50085454 single base substitution C T upstream_gene_variant OV-AU 19 50087307 50087307 single base substitution A G intron_variant OV-AU 19 50087307 50087307 single base substitution A G upstream_gene_variant OV-AU 19 50089113 50089113 single base substitution G C intron_variant PACA-AU 19 50054781 50054781 single base substitution G A downstream_gene_variant PACA-AU 19 50067804 50067804 single base substitution G C intron_variant PACA-AU 19 50067804 50067804 single base substitution G C upstream_gene_variant PACA-AU 19 50069499 50069499 single base substitution G A intron_variant PACA-AU 19 50070051 50070051 single base substitution C T intron_variant PACA-AU 19 50079422 50079422 single base substitution G C intron_variant PACA-AU 19 50092065 50092065 single base substitution C T intron_variant PACA-AU 19 50094444 50094444 single base substitution T C upstream_gene_variant PACA-CA 19 50057163 50057163 single base substitution G T downstream_gene_variant PACA-CA 19 50057164 50057164 single base substitution A T downstream_gene_variant PACA-CA 19 50059826 50059826 single base substitution G T downstream_gene_variant PACA-CA 19 50059826 50059826 single base substitution G T exon_variant PACA-CA 19 50059826 50059826 single base substitution G T intron_variant PACA-CA 19 50059826 50059826 single base substitution G T synonymous_variant P235P 705C>A PACA-CA 19 50059826 50059826 single base substitution G T synonymous_variant P238P 714C>A PACA-CA 19 50065766 50065766 single base substitution C T intron_variant PACA-CA 19 50065766 50065766 single base substitution C T upstream_gene_variant PACA-CA 19 50065860 50065860 single base substitution A G intron_variant PACA-CA 19 50065860 50065860 single base substitution A G upstream_gene_variant PACA-CA 19 50065862 50065862 single base substitution G A intron_variant PACA-CA 19 50065862 50065862 single base substitution G A upstream_gene_variant PACA-CA 19 50066720 50066720 single base substitution C T intron_variant PACA-CA 19 50066720 50066720 single base substitution C T upstream_gene_variant PACA-CA 19 50068077 50068077 single base substitution G A intron_variant PACA-CA 19 50068077 50068077 single base substitution G A upstream_gene_variant PACA-CA 19 50068149 50068149 single base substitution G C intron_variant PACA-CA 19 50068149 50068149 single base substitution G C upstream_gene_variant PACA-CA 19 50074243 50074243 insertion of <=200bp - T intron_variant PACA-CA 19 50078337 50078337 single base substitution G A intron_variant PACA-CA 19 50080562 50080562 single base substitution T C intron_variant PACA-CA 19 50086161 50086161 single base substitution G C intron_variant PACA-CA 19 50086161 50086161 single base substitution G C upstream_gene_variant PACA-CA 19 50088408 50088408 single base substitution C T intron_variant PACA-CA 19 50088408 50088408 single base substitution C T upstream_gene_variant PACA-CA 19 50097180 50097180 deletion of <=200bp T - upstream_gene_variant PAEN-AU 19 50068348 50068348 single base substitution C T intron_variant PAEN-AU 19 50068348 50068348 single base substitution C T upstream_gene_variant PAEN-AU 19 50097120 50097120 single base substitution A G upstream_gene_variant PBCA-DE 19 50057377 50057377 single base substitution C T downstream_gene_variant PBCA-DE 19 50065482 50065482 single base substitution G A intron_variant PBCA-DE 19 50065482 50065482 single base substitution G A upstream_gene_variant PBCA-DE 19 50073903 50073903 single base substitution G A intron_variant PRAD-CA 19 50092703 50092703 single base substitution T A intron_variant PRAD-CA 19 50094004 50094004 single base substitution C T upstream_gene_variant PRAD-UK 19 50066922 50066922 single base substitution T A intron_variant PRAD-UK 19 50066922 50066922 single base substitution T A upstream_gene_variant PRAD-UK 19 50084872 50084872 single base substitution C G intron_variant PRAD-UK 19 50084872 50084872 single base substitution C G upstream_gene_variant RECA-EU 19 50054974 50054974 single base substitution T C downstream_gene_variant RECA-EU 19 50054981 50054981 single base substitution C T downstream_gene_variant RECA-EU 19 50083707 50083707 single base substitution C T intron_variant RECA-EU 19 50083707 50083707 single base substitution C T upstream_gene_variant SKCA-BR 19 50057290 50057290 single base substitution G A downstream_gene_variant SKCA-BR 19 50064076 50064076 single base substitution G A intron_variant SKCA-BR 19 50064076 50064076 single base substitution G A upstream_gene_variant SKCA-BR 19 50064324 50064324 single base substitution A C intron_variant SKCA-BR 19 50064324 50064324 single base substitution A C upstream_gene_variant SKCA-BR 19 50064954 50064954 single base substitution C T intron_variant SKCA-BR 19 50064954 50064954 single base substitution C T upstream_gene_variant SKCA-BR 19 50069027 50069027 insertion of <=200bp - AAAGG intron_variant SKCA-BR 19 50070063 50070063 insertion of <=200bp - TATATATATATAC intron_variant SKCA-BR 19 50070484 50070484 single base substitution A C intron_variant SKCA-BR 19 50078519 50078519 single base substitution G A intron_variant SKCA-BR 19 50080796 50080796 single base substitution C A intron_variant SKCA-BR 19 50080804 50080804 single base substitution G A intron_variant SKCA-BR 19 50080830 50080830 single base substitution T G intron_variant SKCA-BR 19 50080847 50080847 single base substitution T C intron_variant SKCA-BR 19 50081225 50081225 single base substitution G A intron_variant SKCA-BR 19 50083840 50083840 single base substitution T C intron_variant SKCA-BR 19 50083840 50083840 single base substitution T C upstream_gene_variant SKCA-BR 19 50083892 50083892 single base substitution G A intron_variant SKCA-BR 19 50083892 50083892 single base substitution G A upstream_gene_variant SKCA-BR 19 50083898 50083898 single base substitution C T intron_variant SKCA-BR 19 50083898 50083898 single base substitution C T upstream_gene_variant SKCA-BR 19 50083908 50083908 single base substitution G A intron_variant SKCA-BR 19 50083908 50083908 single base substitution G A upstream_gene_variant SKCA-BR 19 50083965 50083965 single base substitution G A intron_variant SKCA-BR 19 50083965 50083965 single base substitution G A upstream_gene_variant SKCA-BR 19 50085666 50085666 single base substitution G A intron_variant SKCA-BR 19 50085666 50085666 single base substitution G A upstream_gene_variant SKCA-BR 19 50087261 50087261 single base substitution C T intron_variant SKCA-BR 19 50087261 50087261 single base substitution C T upstream_gene_variant SKCA-BR 19 50087869 50087869 single base substitution G A intron_variant SKCA-BR 19 50087869 50087869 single base substitution G A upstream_gene_variant SKCA-BR 19 50088529 50088529 single base substitution G A intron_variant SKCA-BR 19 50088529 50088529 single base substitution G A upstream_gene_variant SKCA-BR 19 50089329 50089330 deletion of <=200bp CA - intron_variant SKCA-BR 19 50090100 50090100 single base substitution C T intron_variant SKCA-BR 19 50090119 50090119 single base substitution A T intron_variant SKCA-BR 19 50090241 50090241 insertion of <=200bp - CA intron_variant SKCA-BR 19 50096512 50096512 single base substitution G C upstream_gene_variant SKCA-BR 19 50096613 50096613 single base substitution A C upstream_gene_variant SKCA-BR 19 50096746 50096746 single base substitution G C upstream_gene_variant SKCA-BR 19 50096859 50096859 single base substitution G C upstream_gene_variant SKCA-BR 19 50097607 50097607 single base substitution C T upstream_gene_variant SKCM-US 19 50059050 50059050 single base substitution C T downstream_gene_variant SKCM-US 19 50059050 50059050 single base substitution C T exon_variant SKCM-US 19 50059050 50059050 single base substitution C T synonymous_variant V288V 864G>A SKCM-US 19 50059050 50059050 single base substitution C T synonymous_variant V291V 873G>A SKCM-US 19 50060140 50060140 single base substitution C T 3_prime_UTR_variant SKCM-US 19 50060140 50060140 single base substitution C T downstream_gene_variant SKCM-US 19 50060140 50060140 single base substitution C T exon_variant SKCM-US 19 50060140 50060140 single base substitution C T intron_variant SKCM-US 19 50060140 50060140 single base substitution C T missense_variant E177K 529G>A SKCM-US 19 50060140 50060140 single base substitution C T missense_variant E180K 538G>A SKCM-US 19 50086495 50086495 single base substitution C T intron_variant SKCM-US 19 50086495 50086495 single base substitution C T upstream_gene_variant SKCM-US 19 50086803 50086803 single base substitution C T intron_variant SKCM-US 19 50086803 50086803 single base substitution C T upstream_gene_variant SKCM-US 19 50086873 50086873 single base substitution G A intron_variant SKCM-US 19 50086873 50086873 single base substitution G A upstream_gene_variant SKCM-US 19 50086932 50086932 single base substitution C T intron_variant SKCM-US 19 50086932 50086932 single base substitution C T upstream_gene_variant SKCM-US 19 50086975 50086975 single base substitution G A intron_variant SKCM-US 19 50086975 50086975 single base substitution G A upstream_gene_variant SKCM-US 19 50097748 50097748 single base substitution G C upstream_gene_variant SKCM-US 19 50098088 50098088 single base substitution T C upstream_gene_variant SKCM-US 19 50098089 50098089 single base substitution C T upstream_gene_variant SKCM-US 19 50098289 50098289 single base substitution G A upstream_gene_variant SKCM-US 19 50098347 50098347 single base substitution C T upstream_gene_variant SKCM-US 19 50098425 50098425 single base substitution C T upstream_gene_variant STAD-US 19 50059063 50059063 single base substitution G A downstream_gene_variant STAD-US 19 50059063 50059063 single base substitution G A exon_variant STAD-US 19 50059063 50059063 single base substitution G A missense_variant A284V 851C>T STAD-US 19 50059063 50059063 single base substitution G A missense_variant A287V 860C>T STAD-US 19 50059858 50059858 single base substitution C T downstream_gene_variant STAD-US 19 50059858 50059858 single base substitution C T exon_variant STAD-US 19 50059858 50059858 single base substitution C T intron_variant STAD-US 19 50059858 50059858 single base substitution C T missense_variant V171M 511G>A STAD-US 19 50059858 50059858 single base substitution C T missense_variant V225M 673G>A STAD-US 19 50059858 50059858 single base substitution C T missense_variant V228M 682G>A STAD-US 19 50059938 50059938 single base substitution G A downstream_gene_variant STAD-US 19 50059938 50059938 single base substitution G A exon_variant STAD-US 19 50059938 50059938 single base substitution G A intron_variant STAD-US 19 50059938 50059938 single base substitution G A missense_variant T198M 593C>T STAD-US 19 50059938 50059938 single base substitution G A missense_variant T201M 602C>T STAD-US 19 50063289 50063289 single base substitution C A exon_variant STAD-US 19 50063289 50063289 single base substitution C A synonymous_variant S26S 78G>T STAD-US 19 50063289 50063289 single base substitution C A upstream_gene_variant STAD-US 19 50086849 50086849 single base substitution C T intron_variant STAD-US 19 50086849 50086849 single base substitution C T upstream_gene_variant STAD-US 19 50098208 50098208 single base substitution G A upstream_gene_variant STAD-US 19 50098300 50098300 single base substitution A G upstream_gene_variant THCA-SA 19 50098498 50098498 single base substitution A C upstream_gene_variant THCA-US 19 50097869 50097869 single base substitution A G upstream_gene_variant UCEC-US 19 50059077 50059077 single base substitution G A downstream_gene_variant UCEC-US 19 50059077 50059077 single base substitution G A splice_region_variant UCEC-US 19 50059577 50059577 single base substitution C T downstream_gene_variant UCEC-US 19 50059577 50059577 single base substitution C T exon_variant UCEC-US 19 50059577 50059577 single base substitution C T synonymous_variant Q277Q 831G>A UCEC-US 19 50059577 50059577 single base substitution C T synonymous_variant Q280Q 840G>A UCEC-US 19 50059822 50059822 single base substitution C T downstream_gene_variant UCEC-US 19 50059822 50059822 single base substitution C T exon_variant UCEC-US 19 50059822 50059822 single base substitution C T intron_variant UCEC-US 19 50059822 50059822 single base substitution C T missense_variant A237T 709G>A UCEC-US 19 50059822 50059822 single base substitution C T missense_variant A240T 718G>A UCEC-US 19 50060427 50060427 single base substitution C T 3_prime_UTR_variant UCEC-US 19 50060427 50060427 single base substitution C T downstream_gene_variant UCEC-US 19 50060427 50060427 single base substitution C T exon_variant UCEC-US 19 50060427 50060427 single base substitution C T missense_variant G113D 338G>A UCEC-US 19 50060501 50060501 single base substitution G A 3_prime_UTR_variant UCEC-US 19 50060501 50060501 single base substitution G A downstream_gene_variant UCEC-US 19 50060501 50060501 single base substitution G A exon_variant UCEC-US 19 50060501 50060501 single base substitution G A synonymous_variant Y88Y 264C>T UCEC-US 19 50062165 50062165 single base substitution G A 3_prime_UTR_variant UCEC-US 19 50062165 50062165 single base substitution G A downstream_gene_variant UCEC-US 19 50062165 50062165 single base substitution G A exon_variant UCEC-US 19 50062165 50062165 single base substitution G A missense_variant R83W 247C>T UCEC-US 19 50062165 50062165 single base substitution G A upstream_gene_variant UCEC-US 19 50063238 50063238 single base substitution G A exon_variant UCEC-US 19 50063238 50063238 single base substitution G A synonymous_variant F43F 129C>T UCEC-US 19 50063238 50063238 single base substitution G A upstream_gene_variant UCEC-US 19 50063267 50063267 single base substitution G A exon_variant UCEC-US 19 50063267 50063267 single base substitution G A stop_gained R34* 100C>T UCEC-US 19 50063267 50063267 single base substitution G A upstream_gene_variant UCEC-US 19 50098178 50098178 single base substitution G A upstream_gene_variant UCEC-US 19 50098211 50098211 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MO_1118 COSM5574158 c.835-6_835-5ins17 p.? Unknown 19:49555827-49555828 - TCGA-23-1116-01 COSM116741 c.728G>A p.G243E Substitution - Missense 19:49556423-49556423 - TCGA-B5-A11E-01 COSM999330 c.247C>T p.R83W Substitution - Missense 19:49558908-49558908 - TCGA-BT-A2LA-01 COSM1304911 c.822C>T p.I274I Substitution - coding silent 19:49556329-49556329 - T2269 COSM4707576 c.849C>T p.F283F Substitution - coding silent 19:49555808-49555808 - RK227_C01 COSM4945591 c.70+5A>C p.? Unknown 19:49560617-49560617 - TCGA-B9-5156-01 COSM3990163 c.176+1G>C p.? Unknown 19:49559933-49559933 - PCSI_0090_Pa_X COSM3378802 c.705C>A p.P235P Substitution - coding silent 19:49556569-49556569 - TCGA-EE-A181-06 COSM3536837 c.529G>A p.E177K Substitution - Missense 19:49556883-49556883 - HCT15 COSM1681215 c.650G>A p.R217H Substitution - Missense 19:49556624-49556624 - Pat_54_A COSM5856380 c.508G>A p.E170K Substitution - Missense 19:49556904-49556904 - TCGA-D1-A167-01 COSM999329 c.264C>T p.Y88Y Substitution - coding silent 19:49557244-49557244 - TCGA-BT-A20N-01 COSM418114 c.448C>T p.P150S Substitution - Missense 19:49556964-49556964 - S01453 COSM313295 c.815A>G p.D272G Substitution - Missense 19:49556336-49556336 - LOVO COSM2752727 c.886C>T p.R296W Substitution - Missense 19:49555771-49555771 - SNU-175 COSM1217599 c.334C>T p.R112W Substitution - Missense 19:49557174-49557174 - ESCC-070T COSM3938209 c.673G>A p.V225M Substitution - Missense 19:49556601-49556601 - TCGA-D1-A16F-01 COSM999326 c.831G>A p.Q277Q Substitution - coding silent 19:49556320-49556320 - LOVO COSM2752735 c.751G>A p.V251M Substitution - Missense 19:49556400-49556400 - TCGA-CD-A4MG-01 COSM2752752 c.78G>T p.S26S Substitution - coding silent 19:49560032-49560032 - NB-1375 COSM1286660 c.454A>T p.S152C Substitution - Missense 19:49556958-49556958 - TCGA-AP-A0LM-01 COSM999331 c.129C>T p.F43F Substitution - coding silent 19:49559981-49559981 - 2530678 COSM5885558 c.655G>A p.E219K Substitution - Missense 19:49556619-49556619 - I2L-P19Ta-Tumor-Biopsy COSM5365070 c.859G>A p.G287R Substitution - Missense 19:49555798-49555798 - SW48 COSM2752751 c.199C>T p.R67C Substitution - Missense 19:49558956-49558956 - TCGA-D1-A17H-01 COSM999328 c.338G>A p.G113D Substitution - Missense 19:49557170-49557170 - CHC1152T COSM4791242 c.265G>A p.E89K Substitution - Missense 19:49557243-49557243 - T2258 COSM4707577 c.725+1G>A p.? Unknown 19:49556548-49556548 - CSCC-31-T COSM4467299 c.147C>T p.S49S Substitution - coding silent 19:49559963-49559963 - LIM1899 COSM4613067 c.61_63delAAG p.K21delK Deletion - In frame 19:49560629-49560631 - CHC1152T COSM4791242 c.265G>A p.E89K Substitution - Missense 19:49557243-49557243 - S01453 COSM313295 c.815A>G p.D272G Substitution - Missense 19:49556336-49556336 - 587316 COSM1217598 c.625G>A p.V209M Substitution - Missense 19:49556649-49556649 - TCGA-BS-A0UF-01 COSM999332 c.100C>T p.R34* Substitution - Nonsense 19:49560010-49560010 - BZ04 COSM5757865 c.135C>T p.C45C Substitution - coding silent 19:49559975-49559975 - TCGA-CG-5723-01 COSM3938209 c.673G>A p.V225M Substitution - Missense 19:49556601-49556601 - TCGA-D3-A1Q8-06 COSM3536836 c.864G>A p.V288V Substitution - coding silent 19:49555793-49555793 - 16461 COSM5614695 c.538-1G>T p.? Unknown 19:49556737-49556737 - TCGA-AX-A0J1-01 COSM999325 c.837C>T p.G279G Substitution - coding silent 19:49555820-49555820 - TCGA-E9-A226-01 COSM1481324 c.744C>T p.L248L Substitution - coding silent 19:49556407-49556407 - CSCC-27-T COSM4504282 c.660C>T p.R220R Substitution - coding silent 19:49556614-49556614 - cSCCP1 COSM135845 c.398C>T p.A133V Substitution - Missense 19:49557110-49557110 - 61 COSM5741683 c.28G>A p.A10T Substitution - Missense 19:49560664-49560664 - 587278 COSM1217599 c.334C>T p.R112W Substitution - Missense 19:49557174-49557174 - TCGA-EW-A1OZ-01 COSM1481325 c.299A>C p.K100T Substitution - Missense 19:49557209-49557209 - 18T COSM106538 c.289G>A p.E97K Substitution - Missense 19:49557219-49557219 - TCGA-AD-6964-01 COSM1395264 c.760C>T p.L254L Substitution - coding silent 19:49556391-49556391 - TCGA-B2-4099-01 COSM475034 c.368G>C p.S123T Substitution - Missense 19:49557140-49557140 - HCT15 COSM4632803 c.671C>T p.A224V Substitution - Missense 19:49556603-49556603 - TCGA-AA-3715-01 COSM269729 c.150G>A p.L50L Substitution - coding silent 19:49559960-49559960 - TCGA-HU-A4GQ-01 COSM4080081 c.851C>T p.A284V Substitution - Missense 19:49555806-49555806 - BD49T COSM4613067 c.61_63delAAG p.K21delK Deletion - In frame 19:49560629-49560631 - TCGA-AD-6899-01 COSM1395265 c.235_237delAAG p.K79delK Deletion - In frame 19:49558918-49558920 - CSCC-40-T COSM4495275 c.44C>T p.T15I Substitution - Missense 19:49560648-49560648 - TCGA-BS-A0UV-01 COSM999331 c.129C>T p.F43F Substitution - coding silent 19:49559981-49559981 - LP6005334-DNA_E03 COSM2752740 c.613C>T p.L205L Substitution - coding silent 19:49556661-49556661 - TCGA-AX-A0J1-01 COSM999327 c.709G>A p.A237T Substitution - Missense 19:49556565-49556565 - TCGA-CG-4442-01 COSM4080082 c.593C>T p.T198M Substitution - Missense 19:49556681-49556681 - TCGA-06-1806-01 COSM3748064 c.811C>T p.R271C Substitution - Missense 19:49556340-49556340 - CCK81 COSM2752749 c.274C>T p.R92W Substitution - Missense 19:49557234-49557234 - NB2181 COSM5703190 c.713delT p.V238fs*17 Deletion - Frameshift 19:49556561-49556561 - YUKAT COSM5390306 c.492C>T p.I164I Substitution - coding silent 19:49556920-49556920 - CSCC-35-T COSM135845 c.398C>T p.A133V Substitution - Missense 19:49557110-49557110 - I2L-P19Ta-Tumor-Organoid COSM5365070 c.859G>A p.G287R Substitution - Missense 19:49555798-49555798 - 1004 COSM4613067 c.61_63delAAG p.K21delK Deletion - In frame 19:49560629-49560631 - TCGA-DR-A0ZM-01 COSM459892 c.690G>C p.L230L Substitution - coding silent 19:49556584-49556584 - DLD1 COSM1681215 c.650G>A p.R217H Substitution - Missense 19:49556624-49556624 - HCT-15 COSM1681215 c.650G>A p.R217H Substitution - Missense 19:49556624-49556624 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.7236 19q13.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G29W c.85G>T 19 50063282 HNSC C G Missense p.S123T c.368G>C 19 50060397 RCCC C T Missense p.E177K c.529G>A 19 50060140 CM C T Missense p.G113D c.338G>A 19 50060427 UCEC C T Missense p.G243E c.728G>A 19 50059680 OV C T Synonymous p.Q277Q c.831G>A 19 50059577 UCEC C T Synonymous p.V288V c.864G>A 19 50059050 CM GA AC Missense p.I121S c.362_363delinsGT 19 50060402 CM G A Missense p.P150S c.448C>T 19 50060221 BLCA G A Missense p.R271C c.811C>T 19 50059597 GBM G A Synonymous p.I274I c.822C>T 19 50059586 BLCA G A Synonymous p.L248L c.744C>T 19 50059664 BRCA T A Missense p.S152C c.454A>T 19 50060215 NB T C Missense p.D272G c.815A>G 19 50059593 SCLC T G Missense p.K100T c.299A>C 19 50060466 BRCA