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 12 56600239 56600239 + Missense_Mutation SNP C C T TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr12:56600239C>T c.946G>A c.(946-948)Gag>Aag p.E316K BLCA 12 56600396 56600396 + Missense_Mutation SNP C C G TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr12:56600396C>G c.789G>C c.(787-789)gaG>gaC p.E263D BLCA 12 56600547 56600547 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr12:56600547C>T c.638G>A c.(637-639)cGc>cAc p.R213H BLCA 12 56601470 56601470 + Nonsense_Mutation SNP G G A TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr12:56601470G>A c.562C>T c.(562-564)Cag>Tag p.Q188* BRCA 12 56600315 56600315 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 g.chr12:56600315G>A c.870C>T c.(868-870)gcC>gcT p.A290A BRCA 12 56600452 56600452 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:56600452C>T c.733G>A c.(733-735)Gag>Aag p.E245K BRCA 12 56601468 56601468 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:56601468C>T c.564G>A c.(562-564)caG>caA p.Q188Q BRCA 12 56601499 56601499 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 g.chr12:56601499C>T c.533G>A c.(532-534)cGt>cAt p.R178H BRCA 12 56607765 56607765 + Nonsense_Mutation SNP C C A TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 g.chr12:56607765C>A c.67G>T c.(67-69)Gga>Tga p.G23* CESC 12 56600311 56600311 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr12:56600311C>T c.874G>A c.(874-876)Gag>Aag p.E292K CESC 12 56600398 56600398 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:56600398C>G c.787G>C c.(787-789)Gag>Cag p.E263Q CESC 12 56601988 56601988 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr12:56601988C>T c.457G>A c.(457-459)Gag>Aag p.E153K CESC 12 56602063 56602063 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr12:56602063C>T c.382G>A c.(382-384)Gag>Aag p.E128K COAD 12 56600395 56600395 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:56600395T>C c.790A>G c.(790-792)Act>Gct p.T264A COAD 12 56600395 56600395 + Missense_Mutation SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr12:56600395T>C c.790A>G c.(790-792)Act>Gct p.T264A COAD 12 56600440 56600440 + Missense_Mutation SNP T T C TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr12:56600440T>C c.745A>G c.(745-747)Aat>Gat p.N249D COAD 12 56600560 56600560 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:56600560C>T c.625G>A c.(625-627)Gca>Aca p.A209T COAD 12 56601445 56601445 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:56601445T>C c.587A>G c.(586-588)tAc>tGc p.Y196C COAD 12 56604226 56604226 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr12:56604226G>A c.217C>T c.(217-219)Cgg>Tgg p.R73W COAD 12 56604296 56604296 + Silent SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:56604296C>T c.147G>A c.(145-147)caG>caA p.Q49Q COADREAD 12 56600395 56600395 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:56600395T>C c.790A>G c.(790-792)Act>Gct p.T264A COADREAD 12 56600395 56600395 + Missense_Mutation SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr12:56600395T>C c.790A>G c.(790-792)Act>Gct p.T264A COADREAD 12 56600440 56600440 + Missense_Mutation SNP T T C TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr12:56600440T>C c.745A>G c.(745-747)Aat>Gat p.N249D COADREAD 12 56600560 56600560 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:56600560C>T c.625G>A c.(625-627)Gca>Aca p.A209T COADREAD 12 56601445 56601445 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:56601445T>C c.587A>G c.(586-588)tAc>tGc p.Y196C COADREAD 12 56604131 56604131 + Silent SNP G G A TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr12:56604131G>A c.312C>T c.(310-312)agC>agT p.S104S COADREAD 12 56604226 56604226 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr12:56604226G>A c.217C>T c.(217-219)Cgg>Tgg p.R73W COADREAD 12 56604296 56604296 + Silent SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:56604296C>T c.147G>A c.(145-147)caG>caA p.Q49Q DLBC 12 56601998 56601998 + Silent SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr12:56601998G>A c.447C>T c.(445-447)atC>atT p.I149I ESCA 12 56600447 56600447 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr12:56600447C>T c.738G>A c.(736-738)ctG>ctA p.L246L ESCA 12 56607827 56607827 + Missense_Mutation SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr12:56607827C>T c.5G>A c.(4-6)gGg>gAg p.G2E HNSC 12 56600258 56600258 + Missense_Mutation SNP T T C TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr12:56600258T>C c.927A>G c.(925-927)atA>atG p.I309M HNSC 12 56600268 56600268 + Missense_Mutation SNP A A C TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr12:56600268A>C c.917T>G c.(916-918)cTt>cGt p.L306R HNSC 12 56601481 56601481 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:56601481T>C c.551A>G c.(550-552)aAc>aGc p.N184S HNSC 12 56604300 56604300 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr12:56604300G>A c.143C>T c.(142-144)tCt>tTt p.S48F LUAD 12 56600242 56600242 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr12:56600242C>G c.943G>C c.(943-945)Gaa>Caa p.E315Q LUAD 12 56600497 56600497 + Missense_Mutation SNP T T G TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr12:56600497T>G c.688A>C c.(688-690)Aag>Cag p.K230Q LUAD 12 56604190 56604190 + Missense_Mutation SNP T T C TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr12:56604190T>C c.253A>G c.(253-255)Aac>Gac p.N85D LUSC 12 56600432 56600432 + Missense_Mutation SNP G G T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr12:56600432G>T c.753C>A c.(751-753)caC>caA p.H251Q PAAD 12 56600246 56600246 + Silent SNP G G A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr12:56600246G>A c.939C>T c.(937-939)ggC>ggT p.G313G READ 12 56604131 56604131 + Silent SNP G G A TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr12:56604131G>A c.312C>T c.(310-312)agC>agT p.S104S SARC 12 56600344 56600344 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:56600344G>A c.841C>T c.(841-843)Cct>Tct p.P281S SARC 12 56600345 56600345 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:56600345G>A c.840C>T c.(838-840)atC>atT p.I280I

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 12 56600217 56600217 single base substitution C G 3_prime_UTR_variant BLCA-CN 12 56600217 56600217 single base substitution C G downstream_gene_variant BLCA-US 12 56600547 56600547 single base substitution C T 3_prime_UTR_variant BLCA-US 12 56600547 56600547 single base substitution C T downstream_gene_variant BLCA-US 12 56600547 56600547 single base substitution C T exon_variant BLCA-US 12 56600547 56600547 single base substitution C T missense_variant R142H 425G>A BLCA-US 12 56600547 56600547 single base substitution C T missense_variant R213H 638G>A BLCA-US 12 56618691 56618691 single base substitution G T upstream_gene_variant BRCA-EU 12 56595087 56595087 single base substitution G C downstream_gene_variant BRCA-EU 12 56596004 56596004 single base substitution A T downstream_gene_variant BRCA-EU 12 56596439 56596439 single base substitution C A downstream_gene_variant BRCA-EU 12 56597457 56597457 single base substitution C T downstream_gene_variant BRCA-EU 12 56597464 56597464 single base substitution C A downstream_gene_variant BRCA-EU 12 56601001 56601001 single base substitution A C 3_prime_UTR_variant BRCA-EU 12 56601001 56601001 single base substitution A C downstream_gene_variant BRCA-EU 12 56601001 56601001 single base substitution A C intron_variant BRCA-EU 12 56602245 56602245 single base substitution G A downstream_gene_variant BRCA-EU 12 56602245 56602245 single base substitution G A exon_variant BRCA-EU 12 56602245 56602245 single base substitution G A intron_variant BRCA-EU 12 56602404 56602404 single base substitution G A downstream_gene_variant BRCA-EU 12 56602404 56602404 single base substitution G A intron_variant BRCA-EU 12 56602404 56602404 single base substitution G A upstream_gene_variant BRCA-EU 12 56602984 56602984 single base substitution G A downstream_gene_variant BRCA-EU 12 56602984 56602984 single base substitution G A intron_variant BRCA-EU 12 56602984 56602984 single base substitution G A upstream_gene_variant BRCA-EU 12 56603431 56603431 single base substitution C T downstream_gene_variant BRCA-EU 12 56603431 56603431 single base substitution C T intron_variant BRCA-EU 12 56603431 56603431 single base substitution C T upstream_gene_variant BRCA-EU 12 56604235 56604235 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 56604235 56604235 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 56604235 56604235 single base substitution G A exon_variant BRCA-EU 12 56604235 56604235 single base substitution G A missense_variant R70W 208C>T BRCA-EU 12 56604235 56604235 single base substitution G A upstream_gene_variant BRCA-EU 12 56604687 56604687 single base substitution T C intron_variant BRCA-EU 12 56604687 56604687 single base substitution T C upstream_gene_variant BRCA-EU 12 56605532 56605532 single base substitution G A intron_variant BRCA-EU 12 56605532 56605532 single base substitution G A upstream_gene_variant BRCA-EU 12 56605756 56605756 insertion of <=200bp - A intron_variant BRCA-EU 12 56605756 56605756 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 56608774 56608774 single base substitution C T intron_variant BRCA-EU 12 56608774 56608774 single base substitution C T upstream_gene_variant BRCA-EU 12 56609013 56609013 single base substitution G A intron_variant BRCA-EU 12 56609013 56609013 single base substitution G A upstream_gene_variant BRCA-EU 12 56611115 56611115 single base substitution G A intron_variant BRCA-EU 12 56611115 56611115 single base substitution G A upstream_gene_variant BRCA-EU 12 56611466 56611466 single base substitution G A intron_variant BRCA-EU 12 56611466 56611466 single base substitution G A upstream_gene_variant BRCA-EU 12 56612428 56612428 single base substitution G A intron_variant BRCA-EU 12 56612428 56612428 single base substitution G A upstream_gene_variant BRCA-EU 12 56612606 56612606 single base substitution T G intron_variant BRCA-EU 12 56612606 56612606 single base substitution T G upstream_gene_variant BRCA-EU 12 56612883 56612883 single base substitution A T intron_variant BRCA-EU 12 56612883 56612883 single base substitution A T upstream_gene_variant BRCA-EU 12 56613994 56613994 insertion of <=200bp - T intron_variant BRCA-EU 12 56613994 56613994 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 56614256 56614256 single base substitution C A intron_variant BRCA-EU 12 56614256 56614256 single base substitution C A upstream_gene_variant BRCA-EU 12 56617799 56617799 single base substitution C A upstream_gene_variant BRCA-EU 12 56617844 56617844 single base substitution T C upstream_gene_variant BRCA-EU 12 56619783 56619783 single base substitution G A upstream_gene_variant BRCA-EU 12 56620235 56620235 single base substitution C T upstream_gene_variant BRCA-EU 12 56620372 56620372 single base substitution G A upstream_gene_variant BRCA-FR 12 56596439 56596439 single base substitution C A downstream_gene_variant BRCA-FR 12 56603431 56603431 single base substitution C T downstream_gene_variant BRCA-FR 12 56603431 56603431 single base substitution C T intron_variant BRCA-FR 12 56603431 56603431 single base substitution C T upstream_gene_variant BRCA-FR 12 56604235 56604235 single base substitution G A 3_prime_UTR_variant BRCA-FR 12 56604235 56604235 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 12 56604235 56604235 single base substitution G A exon_variant BRCA-FR 12 56604235 56604235 single base substitution G A missense_variant R70W 208C>T BRCA-FR 12 56604235 56604235 single base substitution G A upstream_gene_variant BRCA-FR 12 56612428 56612428 single base substitution G A intron_variant BRCA-FR 12 56612428 56612428 single base substitution G A upstream_gene_variant BRCA-FR 12 56618184 56618184 single base substitution C T upstream_gene_variant BRCA-FR 12 56619783 56619783 single base substitution G A upstream_gene_variant BRCA-UK 12 56602245 56602245 single base substitution G A downstream_gene_variant BRCA-UK 12 56602245 56602245 single base substitution G A exon_variant BRCA-UK 12 56602245 56602245 single base substitution G A intron_variant BRCA-UK 12 56604687 56604687 single base substitution T C intron_variant BRCA-UK 12 56604687 56604687 single base substitution T C upstream_gene_variant BRCA-UK 12 56616106 56616106 single base substitution G C upstream_gene_variant BRCA-US 12 56600315 56600315 single base substitution G A 3_prime_UTR_variant BRCA-US 12 56600315 56600315 single base substitution G A downstream_gene_variant BRCA-US 12 56600315 56600315 single base substitution G A synonymous_variant A219A 657C>T BRCA-US 12 56600315 56600315 single base substitution G A synonymous_variant A290A 870C>T BRCA-US 12 56600452 56600452 single base substitution C T 3_prime_UTR_variant BRCA-US 12 56600452 56600452 single base substitution C T downstream_gene_variant BRCA-US 12 56600452 56600452 single base substitution C T exon_variant BRCA-US 12 56600452 56600452 single base substitution C T missense_variant E174K 520G>A BRCA-US 12 56600452 56600452 single base substitution C T missense_variant E245K 733G>A BRCA-US 12 56601468 56601468 single base substitution C T downstream_gene_variant BRCA-US 12 56601468 56601468 single base substitution C T exon_variant BRCA-US 12 56601468 56601468 single base substitution C T synonymous_variant Q117Q 351G>A BRCA-US 12 56601468 56601468 single base substitution C T synonymous_variant Q188Q 564G>A BRCA-US 12 56601499 56601499 single base substitution C T downstream_gene_variant BRCA-US 12 56601499 56601499 single base substitution C T exon_variant BRCA-US 12 56601499 56601499 single base substitution C T missense_variant R107H 320G>A BRCA-US 12 56601499 56601499 single base substitution C T missense_variant R178H 533G>A BRCA-US 12 56607765 56607765 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 12 56607765 56607765 single base substitution C A exon_variant BRCA-US 12 56607765 56607765 single base substitution C A intron_variant BRCA-US 12 56607765 56607765 single base substitution C A stop_gained G23* 67G>T BRCA-US 12 56619427 56619427 deletion of <=200bp G - upstream_gene_variant BRCA-US 12 56619427 56619427 single base substitution G T upstream_gene_variant BRCA-US 12 56619453 56619453 single base substitution T G upstream_gene_variant BTCA-JP 12 56600338 56600338 single base substitution T A 3_prime_UTR_variant BTCA-JP 12 56600338 56600338 single base substitution T A downstream_gene_variant BTCA-JP 12 56600338 56600338 single base substitution T A stop_gained K212* 634A>T BTCA-JP 12 56600338 56600338 single base substitution T A stop_gained K283* 847A>T BTCA-JP 12 56607813 56607813 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 12 56607813 56607813 single base substitution G A exon_variant BTCA-JP 12 56607813 56607813 single base substitution G A intron_variant BTCA-JP 12 56607813 56607813 single base substitution G A missense_variant R7C 19C>T BTCA-JP 12 56607813 56607813 single base substitution G A upstream_gene_variant BTCA-JP 12 56607821 56607821 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 12 56607821 56607821 single base substitution T A exon_variant BTCA-JP 12 56607821 56607821 single base substitution T A intron_variant BTCA-JP 12 56607821 56607821 single base substitution T A missense_variant D4V 11A>T BTCA-JP 12 56607821 56607821 single base substitution T A upstream_gene_variant BTCA-JP 12 56619193 56619193 single base substitution G A upstream_gene_variant CESC-US 12 56600311 56600311 single base substitution C T 3_prime_UTR_variant CESC-US 12 56600311 56600311 single base substitution C T downstream_gene_variant CESC-US 12 56600311 56600311 single base substitution C T missense_variant E221K 661G>A CESC-US 12 56600311 56600311 single base substitution C T missense_variant E292K 874G>A CESC-US 12 56600398 56600398 single base substitution C G 3_prime_UTR_variant CESC-US 12 56600398 56600398 single base substitution C G downstream_gene_variant CESC-US 12 56600398 56600398 single base substitution C G exon_variant CESC-US 12 56600398 56600398 single base substitution C G missense_variant E192Q 574G>C CESC-US 12 56600398 56600398 single base substitution C G missense_variant E263Q 787G>C CESC-US 12 56601988 56601988 single base substitution C T 3_prime_UTR_variant CESC-US 12 56601988 56601988 single base substitution C T downstream_gene_variant CESC-US 12 56601988 56601988 single base substitution C T exon_variant CESC-US 12 56601988 56601988 single base substitution C T missense_variant E153K 457G>A CESC-US 12 56601988 56601988 single base substitution C T missense_variant E82K 244G>A CESC-US 12 56602063 56602063 single base substitution C T 3_prime_UTR_variant CESC-US 12 56602063 56602063 single base substitution C T downstream_gene_variant CESC-US 12 56602063 56602063 single base substitution C T exon_variant CESC-US 12 56602063 56602063 single base substitution C T missense_variant E128K 382G>A CESC-US 12 56602063 56602063 single base substitution C T missense_variant E57K 169G>A CESC-US 12 56618691 56618691 single base substitution G A upstream_gene_variant COAD-US 12 56600440 56600440 single base substitution T C 3_prime_UTR_variant COAD-US 12 56600440 56600440 single base substitution T C downstream_gene_variant COAD-US 12 56600440 56600440 single base substitution T C exon_variant COAD-US 12 56600440 56600440 single base substitution T C missense_variant N178D 532A>G COAD-US 12 56600440 56600440 single base substitution T C missense_variant N249D 745A>G COAD-US 12 56601445 56601445 single base substitution T C downstream_gene_variant COAD-US 12 56601445 56601445 single base substitution T C exon_variant COAD-US 12 56601445 56601445 single base substitution T C missense_variant Y125C 374A>G COAD-US 12 56601445 56601445 single base substitution T C missense_variant Y196C 587A>G COAD-US 12 56604296 56604296 single base substitution C T 3_prime_UTR_variant COAD-US 12 56604296 56604296 single base substitution C T 5_prime_UTR_variant COAD-US 12 56604296 56604296 single base substitution C T exon_variant COAD-US 12 56604296 56604296 single base substitution C T synonymous_variant Q49Q 147G>A COAD-US 12 56604296 56604296 single base substitution C T upstream_gene_variant COAD-US 12 56604322 56604322 single base substitution C T 3_prime_UTR_variant COAD-US 12 56604322 56604322 single base substitution C T 5_prime_UTR_variant COAD-US 12 56604322 56604322 single base substitution C T exon_variant COAD-US 12 56604322 56604322 single base substitution C T missense_variant A41T 121G>A COAD-US 12 56604322 56604322 single base substitution C T upstream_gene_variant COAD-US 12 56619271 56619271 single base substitution G A upstream_gene_variant COCA-CN 12 56597691 56597691 single base substitution G A downstream_gene_variant COCA-CN 12 56600993 56600993 single base substitution G A 3_prime_UTR_variant COCA-CN 12 56600993 56600993 single base substitution G A downstream_gene_variant COCA-CN 12 56600993 56600993 single base substitution G A intron_variant COCA-CN 12 56602116 56602116 single base substitution G T downstream_gene_variant COCA-CN 12 56602116 56602116 single base substitution G T exon_variant COCA-CN 12 56602116 56602116 single base substitution G T intron_variant COCA-CN 12 56608392 56608392 single base substitution G C intron_variant COCA-CN 12 56608392 56608392 single base substitution G C upstream_gene_variant EOPC-DE 12 56597049 56597049 single base substitution C G downstream_gene_variant EOPC-DE 12 56597054 56597054 single base substitution A G downstream_gene_variant EOPC-DE 12 56603220 56603220 single base substitution G A downstream_gene_variant EOPC-DE 12 56603220 56603220 single base substitution G A intron_variant EOPC-DE 12 56603220 56603220 single base substitution G A upstream_gene_variant ESAD-UK 12 56593538 56593538 single base substitution G A downstream_gene_variant ESAD-UK 12 56594285 56594285 single base substitution A C downstream_gene_variant ESAD-UK 12 56601322 56601322 single base substitution C T downstream_gene_variant ESAD-UK 12 56601322 56601322 single base substitution C T intron_variant ESAD-UK 12 56602498 56602498 single base substitution G A downstream_gene_variant ESAD-UK 12 56602498 56602498 single base substitution G A intron_variant ESAD-UK 12 56602498 56602498 single base substitution G A upstream_gene_variant ESAD-UK 12 56604594 56604594 single base substitution G A intron_variant ESAD-UK 12 56604594 56604594 single base substitution G A upstream_gene_variant ESAD-UK 12 56606508 56606508 single base substitution C T intron_variant ESAD-UK 12 56606508 56606508 single base substitution C T upstream_gene_variant ESAD-UK 12 56608324 56608324 single base substitution A T intron_variant ESAD-UK 12 56608324 56608324 single base substitution A T upstream_gene_variant ESAD-UK 12 56611151 56611151 single base substitution C T intron_variant ESAD-UK 12 56611151 56611151 single base substitution C T upstream_gene_variant ESAD-UK 12 56611857 56611857 single base substitution C A intron_variant ESAD-UK 12 56611857 56611857 single base substitution C A upstream_gene_variant ESAD-UK 12 56614721 56614721 single base substitution G A intron_variant ESAD-UK 12 56614721 56614721 single base substitution G A upstream_gene_variant ESAD-UK 12 56615541 56615541 single base substitution C T intron_variant ESAD-UK 12 56615541 56615541 single base substitution C T upstream_gene_variant ESAD-UK 12 56617704 56617704 deletion of <=200bp G - upstream_gene_variant ESAD-UK 12 56619848 56619848 single base substitution A C upstream_gene_variant ESCA-CN 12 56601529 56601529 single base substitution C T downstream_gene_variant ESCA-CN 12 56601529 56601529 single base substitution C T exon_variant ESCA-CN 12 56601529 56601529 single base substitution C T missense_variant R168Q 503G>A ESCA-CN 12 56601529 56601529 single base substitution C T missense_variant R97Q 290G>A ESCA-CN 12 56602078 56602078 single base substitution C G 3_prime_UTR_variant ESCA-CN 12 56602078 56602078 single base substitution C G downstream_gene_variant ESCA-CN 12 56602078 56602078 single base substitution C G exon_variant ESCA-CN 12 56602078 56602078 single base substitution C G missense_variant E123Q 367G>C ESCA-CN 12 56602078 56602078 single base substitution C G missense_variant E52Q 154G>C ESCA-CN 12 56607781 56607781 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 12 56607781 56607781 single base substitution G A exon_variant ESCA-CN 12 56607781 56607781 single base substitution G A intron_variant ESCA-CN 12 56607781 56607781 single base substitution G A synonymous_variant I17I 51C>T ESCA-CN 12 56618691 56618691 single base substitution G A upstream_gene_variant LAML-KR 12 56597691 56597691 single base substitution G A downstream_gene_variant LICA-FR 12 56601441 56601443 deletion of <=200bp GTT - downstream_gene_variant LICA-FR 12 56601441 56601443 deletion of <=200bp GTT - exon_variant LICA-FR 12 56601441 56601443 deletion of <=200bp GTT - inframe_deletion N126 LICA-FR 12 56601441 56601443 deletion of <=200bp GTT - inframe_deletion N197 LICA-FR 12 56613803 56613803 insertion of <=200bp - AAAT intron_variant LICA-FR 12 56613803 56613803 insertion of <=200bp - AAAT upstream_gene_variant LIHC-US 12 56619991 56619991 single base substitution A G upstream_gene_variant LIHC-US 12 56619992 56619992 single base substitution A T upstream_gene_variant LINC-JP 12 56596085 56596085 single base substitution G A downstream_gene_variant LINC-JP 12 56599354 56599354 deletion of <=200bp G - 3_prime_UTR_variant LINC-JP 12 56599354 56599354 deletion of <=200bp G - downstream_gene_variant LINC-JP 12 56601334 56601334 single base substitution T A downstream_gene_variant LINC-JP 12 56601334 56601334 single base substitution T A intron_variant LINC-JP 12 56602165 56602165 single base substitution T C downstream_gene_variant LINC-JP 12 56602165 56602165 single base substitution T C exon_variant LINC-JP 12 56602165 56602165 single base substitution T C intron_variant LINC-JP 12 56604217 56604217 single base substitution A G 3_prime_UTR_variant LINC-JP 12 56604217 56604217 single base substitution A G exon_variant LINC-JP 12 56604217 56604217 single base substitution A G synonymous_variant L5L 13T>C LINC-JP 12 56604217 56604217 single base substitution A G synonymous_variant L76L 226T>C LINC-JP 12 56604217 56604217 single base substitution A G upstream_gene_variant LINC-JP 12 56606756 56606756 single base substitution A C intron_variant LINC-JP 12 56606756 56606756 single base substitution A C upstream_gene_variant LINC-JP 12 56606789 56606789 single base substitution G C 5_prime_UTR_variant LINC-JP 12 56606789 56606789 single base substitution G C exon_variant LINC-JP 12 56606789 56606789 single base substitution G C intron_variant LINC-JP 12 56606789 56606789 single base substitution G C upstream_gene_variant LINC-JP 12 56620070 56620070 single base substitution G T upstream_gene_variant LINC-JP 12 56620191 56620191 single base substitution G T upstream_gene_variant LIRI-JP 12 56594014 56594014 single base substitution G A downstream_gene_variant LIRI-JP 12 56595604 56595604 single base substitution T C downstream_gene_variant LIRI-JP 12 56596454 56596454 single base substitution T C downstream_gene_variant LIRI-JP 12 56599736 56599736 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 56599736 56599736 single base substitution T C downstream_gene_variant LIRI-JP 12 56601228 56601228 single base substitution C T downstream_gene_variant LIRI-JP 12 56601228 56601228 single base substitution C T intron_variant LIRI-JP 12 56602312 56602312 single base substitution G C downstream_gene_variant LIRI-JP 12 56602312 56602312 single base substitution G C exon_variant LIRI-JP 12 56602312 56602312 single base substitution G C intron_variant LIRI-JP 12 56604065 56604065 single base substitution A T exon_variant LIRI-JP 12 56604065 56604065 single base substitution A T intron_variant LIRI-JP 12 56604065 56604065 single base substitution A T upstream_gene_variant LIRI-JP 12 56604766 56604766 single base substitution C T intron_variant LIRI-JP 12 56604766 56604766 single base substitution C T upstream_gene_variant LIRI-JP 12 56605976 56605976 single base substitution C G intron_variant LIRI-JP 12 56605976 56605976 single base substitution C G upstream_gene_variant LIRI-JP 12 56611897 56611897 single base substitution C A intron_variant LIRI-JP 12 56611897 56611897 single base substitution C A upstream_gene_variant LIRI-JP 12 56611927 56611927 single base substitution G T intron_variant LIRI-JP 12 56611927 56611927 single base substitution G T upstream_gene_variant LIRI-JP 12 56616026 56616026 single base substitution T C upstream_gene_variant LIRI-JP 12 56617845 56617845 single base substitution T C upstream_gene_variant LUSC-KR 12 56597376 56597376 single base substitution C A downstream_gene_variant LUSC-KR 12 56598001 56598001 single base substitution C G downstream_gene_variant LUSC-KR 12 56612906 56612906 single base substitution C T intron_variant LUSC-KR 12 56612906 56612906 single base substitution C T upstream_gene_variant LUSC-KR 12 56613364 56613364 single base substitution C T intron_variant LUSC-KR 12 56613364 56613364 single base substitution C T upstream_gene_variant LUSC-KR 12 56614045 56614045 single base substitution T A intron_variant LUSC-KR 12 56614045 56614045 single base substitution T A upstream_gene_variant LUSC-US 12 56600432 56600432 single base substitution G T 3_prime_UTR_variant LUSC-US 12 56600432 56600432 single base substitution G T downstream_gene_variant LUSC-US 12 56600432 56600432 single base substitution G T exon_variant LUSC-US 12 56600432 56600432 single base substitution G T missense_variant H180Q 540C>A LUSC-US 12 56600432 56600432 single base substitution G T missense_variant H251Q 753C>A MALY-DE 12 56593882 56593882 insertion of <=200bp - T downstream_gene_variant MELA-AU 12 56593508 56593508 single base substitution G A downstream_gene_variant MELA-AU 12 56593594 56593594 single base substitution C T downstream_gene_variant MELA-AU 12 56594478 56594478 single base substitution G A downstream_gene_variant MELA-AU 12 56594822 56594822 single base substitution C T downstream_gene_variant MELA-AU 12 56597545 56597545 single base substitution A G downstream_gene_variant MELA-AU 12 56598388 56598389 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 56598388 56598389 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 56598913 56598913 single base substitution G A 3_prime_UTR_variant MELA-AU 12 56598913 56598913 single base substitution G A downstream_gene_variant MELA-AU 12 56599047 56599048 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 56599047 56599048 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 56599356 56599356 single base substitution G A 3_prime_UTR_variant MELA-AU 12 56599356 56599356 single base substitution G A downstream_gene_variant MELA-AU 12 56599845 56599845 single base substitution G A 3_prime_UTR_variant MELA-AU 12 56599845 56599845 single base substitution G A downstream_gene_variant MELA-AU 12 56600182 56600182 single base substitution G A 3_prime_UTR_variant MELA-AU 12 56600182 56600182 single base substitution G A downstream_gene_variant MELA-AU 12 56601175 56601175 single base substitution G A downstream_gene_variant MELA-AU 12 56601175 56601175 single base substitution G A intron_variant MELA-AU 12 56601719 56601719 single base substitution G A downstream_gene_variant MELA-AU 12 56601719 56601719 single base substitution G A intron_variant MELA-AU 12 56602783 56602783 single base substitution G A downstream_gene_variant MELA-AU 12 56602783 56602783 single base substitution G A intron_variant MELA-AU 12 56602783 56602783 single base substitution G A upstream_gene_variant MELA-AU 12 56604790 56604790 single base substitution G A intron_variant MELA-AU 12 56604790 56604790 single base substitution G A upstream_gene_variant MELA-AU 12 56605112 56605112 single base substitution A G intron_variant MELA-AU 12 56605112 56605112 single base substitution A G upstream_gene_variant MELA-AU 12 56605508 56605508 single base substitution G A intron_variant MELA-AU 12 56605508 56605508 single base substitution G A upstream_gene_variant MELA-AU 12 56606350 56606350 single base substitution A T intron_variant MELA-AU 12 56606350 56606350 single base substitution A T upstream_gene_variant MELA-AU 12 56606580 56606580 single base substitution G A intron_variant MELA-AU 12 56606580 56606580 single base substitution G A upstream_gene_variant MELA-AU 12 56607277 56607277 single base substitution C T intron_variant MELA-AU 12 56607277 56607277 single base substitution C T upstream_gene_variant MELA-AU 12 56607633 56607633 single base substitution G T intron_variant MELA-AU 12 56607807 56607807 single base substitution G A 5_prime_UTR_variant MELA-AU 12 56607807 56607807 single base substitution G A exon_variant MELA-AU 12 56607807 56607807 single base substitution G A intron_variant MELA-AU 12 56607807 56607807 single base substitution G A stop_gained Q9* 25C>T MELA-AU 12 56607807 56607807 single base substitution G A upstream_gene_variant MELA-AU 12 56608371 56608371 single base substitution G A intron_variant MELA-AU 12 56608371 56608371 single base substitution G A upstream_gene_variant MELA-AU 12 56609506 56609506 single base substitution A T intron_variant MELA-AU 12 56609506 56609506 single base substitution A T upstream_gene_variant MELA-AU 12 56609507 56609507 single base substitution A T intron_variant MELA-AU 12 56609507 56609507 single base substitution A T upstream_gene_variant MELA-AU 12 56609689 56609689 single base substitution T C intron_variant MELA-AU 12 56609689 56609689 single base substitution T C upstream_gene_variant MELA-AU 12 56610130 56610130 single base substitution G A intron_variant MELA-AU 12 56610130 56610130 single base substitution G A upstream_gene_variant MELA-AU 12 56610239 56610239 single base substitution C T 5_prime_UTR_variant MELA-AU 12 56610239 56610239 single base substitution C T exon_variant MELA-AU 12 56610239 56610239 single base substitution C T intron_variant MELA-AU 12 56610239 56610239 single base substitution C T upstream_gene_variant MELA-AU 12 56610367 56610367 single base substitution G A 5_prime_UTR_variant MELA-AU 12 56610367 56610367 single base substitution G A exon_variant MELA-AU 12 56610367 56610367 single base substitution G A intron_variant MELA-AU 12 56610367 56610367 single base substitution G A upstream_gene_variant MELA-AU 12 56610494 56610494 single base substitution G A intron_variant MELA-AU 12 56610494 56610494 single base substitution G A upstream_gene_variant MELA-AU 12 56610633 56610633 single base substitution G A intron_variant MELA-AU 12 56610633 56610633 single base substitution G A upstream_gene_variant MELA-AU 12 56612867 56612867 single base substitution C T intron_variant MELA-AU 12 56612867 56612867 single base substitution C T upstream_gene_variant MELA-AU 12 56613118 56613118 single base substitution G A intron_variant MELA-AU 12 56613118 56613118 single base substitution G A upstream_gene_variant MELA-AU 12 56614608 56614608 single base substitution G A intron_variant MELA-AU 12 56614608 56614608 single base substitution G A upstream_gene_variant MELA-AU 12 56615644 56615644 single base substitution G A 5_prime_UTR_variant MELA-AU 12 56615644 56615644 single base substitution G A exon_variant MELA-AU 12 56615644 56615644 single base substitution G A intron_variant MELA-AU 12 56615644 56615644 single base substitution G A upstream_gene_variant MELA-AU 12 56616843 56616843 single base substitution C T upstream_gene_variant MELA-AU 12 56617432 56617432 single base substitution G A upstream_gene_variant MELA-AU 12 56617635 56617635 single base substitution C T upstream_gene_variant MELA-AU 12 56618114 56618114 single base substitution C T upstream_gene_variant MELA-AU 12 56618852 56618852 single base substitution G A upstream_gene_variant MELA-AU 12 56619154 56619154 single base substitution C T upstream_gene_variant MELA-AU 12 56619360 56619360 single base substitution C A upstream_gene_variant MELA-AU 12 56620198 56620198 single base substitution C T upstream_gene_variant MELA-AU 12 56620215 56620215 single base substitution C T upstream_gene_variant MELA-AU 12 56620216 56620216 single base substitution C T upstream_gene_variant MELA-AU 12 56620236 56620236 single base substitution C T upstream_gene_variant MELA-AU 12 56620252 56620252 single base substitution C T upstream_gene_variant MELA-AU 12 56620383 56620383 single base substitution C T upstream_gene_variant MELA-AU 12 56620418 56620418 single base substitution C T upstream_gene_variant ORCA-IN 12 56617719 56617719 single base substitution G A upstream_gene_variant OV-AU 12 56603136 56603136 single base substitution C T downstream_gene_variant OV-AU 12 56603136 56603136 single base substitution C T intron_variant OV-AU 12 56603136 56603136 single base substitution C T upstream_gene_variant OV-AU 12 56604157 56604157 single base substitution G T 3_prime_UTR_variant OV-AU 12 56604157 56604157 single base substitution G T exon_variant OV-AU 12 56604157 56604157 single base substitution G T missense_variant L25I 73C>A OV-AU 12 56604157 56604157 single base substitution G T missense_variant L96I 286C>A OV-AU 12 56604157 56604157 single base substitution G T upstream_gene_variant OV-AU 12 56616597 56616597 single base substitution T A upstream_gene_variant OV-AU 12 56619993 56619993 single base substitution C G upstream_gene_variant PACA-AU 12 56593461 56593461 insertion of <=200bp - T downstream_gene_variant PACA-AU 12 56594864 56594864 single base substitution G A downstream_gene_variant PACA-AU 12 56601959 56601959 single base substitution C A 3_prime_UTR_variant PACA-AU 12 56601959 56601959 single base substitution C A downstream_gene_variant PACA-AU 12 56601959 56601959 single base substitution C A exon_variant PACA-AU 12 56601959 56601959 single base substitution C A missense_variant Q162H 486G>T PACA-AU 12 56601959 56601959 single base substitution C A missense_variant Q91H 273G>T PACA-AU 12 56604874 56604874 single base substitution C T intron_variant PACA-AU 12 56604874 56604874 single base substitution C T upstream_gene_variant PACA-AU 12 56605140 56605140 single base substitution T A intron_variant PACA-AU 12 56605140 56605140 single base substitution T A upstream_gene_variant PACA-AU 12 56610599 56610599 single base substitution T C intron_variant PACA-AU 12 56610599 56610599 single base substitution T C upstream_gene_variant PACA-AU 12 56612980 56612980 insertion of <=200bp - T intron_variant PACA-AU 12 56612980 56612980 insertion of <=200bp - T upstream_gene_variant PACA-AU 12 56613803 56613803 insertion of <=200bp - AAAT intron_variant PACA-AU 12 56613803 56613803 insertion of <=200bp - AAAT upstream_gene_variant PACA-CA 12 56594384 56594384 single base substitution G A downstream_gene_variant PACA-CA 12 56595076 56595076 single base substitution A T downstream_gene_variant PACA-CA 12 56602357 56602357 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 56602357 56602357 insertion of <=200bp - T intron_variant PACA-CA 12 56602357 56602357 insertion of <=200bp - T upstream_gene_variant PACA-CA 12 56607216 56607216 single base substitution C A intron_variant PACA-CA 12 56607216 56607216 single base substitution C A upstream_gene_variant PACA-CA 12 56615411 56615411 deletion of <=200bp T - 5_prime_UTR_variant PACA-CA 12 56615411 56615411 deletion of <=200bp T - intron_variant PACA-CA 12 56615836 56615836 single base substitution C T upstream_gene_variant PACA-CA 12 56618149 56618149 single base substitution G A upstream_gene_variant PACA-CA 12 56619936 56619936 single base substitution G A upstream_gene_variant PAEN-AU 12 56617257 56617257 single base substitution G T upstream_gene_variant PBCA-DE 12 56612531 56612531 insertion of <=200bp - T intron_variant PBCA-DE 12 56612531 56612531 insertion of <=200bp - T upstream_gene_variant PRAD-CA 12 56595765 56595765 single base substitution T C downstream_gene_variant PRAD-UK 12 56605140 56605140 single base substitution T A intron_variant PRAD-UK 12 56605140 56605140 single base substitution T A upstream_gene_variant PRAD-UK 12 56607977 56607977 single base substitution A T intron_variant PRAD-UK 12 56607977 56607977 single base substitution A T upstream_gene_variant PRAD-UK 12 56609960 56609960 single base substitution T A intron_variant PRAD-UK 12 56609960 56609960 single base substitution T A upstream_gene_variant RECA-EU 12 56596051 56596051 single base substitution G T downstream_gene_variant RECA-EU 12 56597155 56597155 single base substitution A G downstream_gene_variant RECA-EU 12 56597188 56597188 single base substitution T G downstream_gene_variant RECA-EU 12 56597488 56597488 single base substitution T A downstream_gene_variant RECA-EU 12 56608620 56608620 single base substitution A T intron_variant RECA-EU 12 56608620 56608620 single base substitution A T upstream_gene_variant RECA-EU 12 56619449 56619449 single base substitution G T upstream_gene_variant SKCA-BR 12 56594432 56594432 single base substitution T G downstream_gene_variant SKCA-BR 12 56594618 56594618 single base substitution C T downstream_gene_variant SKCA-BR 12 56595912 56595912 single base substitution A T downstream_gene_variant SKCA-BR 12 56597184 56597184 single base substitution G T downstream_gene_variant SKCA-BR 12 56597187 56597187 single base substitution T G downstream_gene_variant SKCA-BR 12 56597188 56597188 single base substitution T G downstream_gene_variant SKCA-BR 12 56597469 56597469 single base substitution T C downstream_gene_variant SKCA-BR 12 56597486 56597486 insertion of <=200bp - CTA downstream_gene_variant SKCA-BR 12 56597487 56597487 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 12 56597488 56597488 single base substitution T A downstream_gene_variant SKCA-BR 12 56599158 56599158 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 56599158 56599158 single base substitution G A downstream_gene_variant SKCA-BR 12 56602837 56602837 single base substitution T C downstream_gene_variant SKCA-BR 12 56602837 56602837 single base substitution T C intron_variant SKCA-BR 12 56602837 56602837 single base substitution T C upstream_gene_variant SKCA-BR 12 56609556 56609556 single base substitution G A intron_variant SKCA-BR 12 56609556 56609556 single base substitution G A upstream_gene_variant SKCA-BR 12 56613802 56613802 insertion of <=200bp - AAAAT intron_variant SKCA-BR 12 56613802 56613802 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 12 56615712 56615712 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 12 56615712 56615712 single base substitution C A upstream_gene_variant SKCA-BR 12 56616249 56616249 single base substitution T C upstream_gene_variant SKCA-BR 12 56616599 56616599 single base substitution T A upstream_gene_variant SKCA-BR 12 56618227 56618227 single base substitution T G upstream_gene_variant SKCA-BR 12 56618231 56618231 single base substitution T G upstream_gene_variant SKCA-BR 12 56618990 56618990 single base substitution C T upstream_gene_variant STAD-US 12 56600349 56600349 single base substitution C T 3_prime_UTR_variant STAD-US 12 56600349 56600349 single base substitution C T downstream_gene_variant STAD-US 12 56600349 56600349 single base substitution C T missense_variant R208H 623G>A STAD-US 12 56600349 56600349 single base substitution C T missense_variant R279H 836G>A STAD-US 12 56604256 56604256 single base substitution C T 3_prime_UTR_variant STAD-US 12 56604256 56604256 single base substitution C T 5_prime_UTR_variant STAD-US 12 56604256 56604256 single base substitution C T exon_variant STAD-US 12 56604256 56604256 single base substitution C T missense_variant A63T 187G>A STAD-US 12 56604256 56604256 single base substitution C T upstream_gene_variant STAD-US 12 56619283 56619283 single base substitution G A upstream_gene_variant UCEC-US 12 56600237 56600237 single base substitution C A 3_prime_UTR_variant UCEC-US 12 56600237 56600237 single base substitution C A downstream_gene_variant UCEC-US 12 56600237 56600237 single base substitution C A missense_variant E245D 735G>T UCEC-US 12 56600237 56600237 single base substitution C A missense_variant E316D 948G>T UCEC-US 12 56600253 56600253 single base substitution G A 3_prime_UTR_variant UCEC-US 12 56600253 56600253 single base substitution G A downstream_gene_variant UCEC-US 12 56600253 56600253 single base substitution G A missense_variant A240V 719C>T UCEC-US 12 56600253 56600253 single base substitution G A missense_variant A311V 932C>T UCEC-US 12 56600559 56600559 single base substitution G A 3_prime_UTR_variant UCEC-US 12 56600559 56600559 single base substitution G A downstream_gene_variant UCEC-US 12 56600559 56600559 single base substitution G A exon_variant UCEC-US 12 56600559 56600559 single base substitution G A missense_variant A138V 413C>T UCEC-US 12 56600559 56600559 single base substitution G A missense_variant A209V 626C>T UCEC-US 12 56601490 56601490 single base substitution C A downstream_gene_variant UCEC-US 12 56601490 56601490 single base substitution C A exon_variant UCEC-US 12 56601490 56601490 single base substitution C A missense_variant R110L 329G>T UCEC-US 12 56601490 56601490 single base substitution C A missense_variant R181L 542G>T UCEC-US 12 56601530 56601530 single base substitution G A downstream_gene_variant UCEC-US 12 56601530 56601530 single base substitution G A exon_variant UCEC-US 12 56601530 56601530 single base substitution G A stop_gained R168* 502C>T UCEC-US 12 56601530 56601530 single base substitution G A stop_gained R97* 289C>T UCEC-US 12 56601953 56601953 single base substitution C A 3_prime_UTR_variant UCEC-US 12 56601953 56601953 single base substitution C A downstream_gene_variant UCEC-US 12 56601953 56601953 single base substitution C A exon_variant UCEC-US 12 56601953 56601953 single base substitution C A synonymous_variant A164A 492G>T UCEC-US 12 56601953 56601953 single base substitution C A synonymous_variant A93A 279G>T UCEC-US 12 56604162 56604162 single base substitution A G 3_prime_UTR_variant UCEC-US 12 56604162 56604162 single base substitution A G exon_variant UCEC-US 12 56604162 56604162 single base substitution A G missense_variant V23A 68T>C UCEC-US 12 56604162 56604162 single base substitution A G missense_variant V94A 281T>C UCEC-US 12 56604162 56604162 single base substitution A G upstream_gene_variant UCEC-US 12 56604188 56604188 single base substitution G A 3_prime_UTR_variant UCEC-US 12 56604188 56604188 single base substitution G A exon_variant UCEC-US 12 56604188 56604188 single base substitution G A synonymous_variant N14N 42C>T UCEC-US 12 56604188 56604188 single base substitution G A synonymous_variant N85N 255C>T UCEC-US 12 56604188 56604188 single base substitution G A upstream_gene_variant UCEC-US 12 56604261 56604261 single base substitution G C 3_prime_UTR_variant UCEC-US 12 56604261 56604261 single base substitution G C 5_prime_UTR_variant UCEC-US 12 56604261 56604261 single base substitution G C exon_variant UCEC-US 12 56604261 56604261 single base substitution G C missense_variant T61R 182C>G UCEC-US 12 56604261 56604261 single base substitution G C upstream_gene_variant UCEC-US 12 56619962 56619962 single base substitution G A upstream_gene_variant UCEC-US 12 56619962 56619962 single base substitution G C upstream_gene_variant UCEC-US 12 56620148 56620148 single base substitution C T upstream_gene_variant UCEC-US 12 56620169 56620169 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F1-6177-01 COSM4043555 c.187G>A p.A63T Substitution - Missense 12:56210472-56210472 - ESCC_BICR_040T COSM5429838 c.51C>T p.I17I Substitution - coding silent 12:56213997-56213997 - TCGA-AM-5820-01 COSM3688339 c.121G>A p.A41T Substitution - Missense 12:56210538-56210538 - ESCC_30 COSM5627613 c.541C>A p.R181S Substitution - Missense 12:56207707-56207707 - TCGA-EK-A3GK-01 COSM4852624 c.457G>A p.E153K Substitution - Missense 12:56208204-56208204 - TCGA-G4-6309-01 COSM1363071 c.147G>A p.Q49Q Substitution - coding silent 12:56210512-56210512 - TCGA-B5-A0JY-01 COSM941573 c.948G>T p.E316D Substitution - Missense 12:56206453-56206453 - BD57T COSM5510609 c.19C>T p.R7C Substitution - Missense 12:56214029-56214029 - cSCCP8 COSM140693 c.623C>A p.P208Q Substitution - Missense 12:56206778-56206778 - TCGA-A5-A0RA-01 COSM941582 c.182C>G p.T61R Substitution - Missense 12:56210477-56210477 - TCGA-D5-6929-01 COSM1363068 c.745A>G p.N249D Substitution - Missense 12:56206656-56206656 - HCC56T COSM1606380 c.226T>C p.L76L Substitution - coding silent 12:56210433-56210433 - ESCC_BICR_005T COSM5439070 c.367G>C p.E123Q Substitution - Missense 12:56208294-56208294 - TCGA-CK-6746-01 COSM1363069 c.625G>A p.A209T Substitution - Missense 12:56206776-56206776 - TCGA-JW-A5VL-01 COSM4847660 c.787G>C p.E263Q Substitution - Missense 12:56206614-56206614 - TCGA-BT-A20O-01 COSM416149 c.638G>A p.R213H Substitution - Missense 12:56206763-56206763 - TCGA-60-2698-01 COSM694486 c.753C>A p.H251Q Substitution - Missense 12:56206648-56206648 - 587376 COSM941578 c.502C>T p.R168* Substitution - Nonsense 12:56207746-56207746 - HCT15 COSM941581 c.255C>T p.N85N Substitution - coding silent 12:56210404-56210404 - BD173T COSM5500544 c.11A>T p.D4V Substitution - Missense 12:56214037-56214037 - 8804_PT COSM5613578 c.265G>A p.G89S Substitution - Missense 12:56210394-56210394 - 8804_CLM COSM5613578 c.265G>A p.G89S Substitution - Missense 12:56210394-56210394 - DN111AA COSM5773321 c.208C>T p.R70W Substitution - Missense 12:56210451-56210451 - TCGA-IR-A3LH-01 COSM4832491 c.382G>A p.E128K Substitution - Missense 12:56208279-56208279 - TCGA-E9-A1R5-01 COSM1476747 c.67G>T p.G23* Substitution - Nonsense 12:56213981-56213981 - TCGA-B5-A0K9-01 COSM941575 c.679G>A p.A227T Substitution - Missense 12:56206722-56206722 - LB2518-MEL COSM23477 c.792T>C p.T264T Substitution - coding silent 12:56206609-56206609 - I2L-P19Ta-Tumor-Biopsy COSM5361550 c.56C>A p.P19H Substitution - Missense 12:56213992-56213992 - BCM617T COSM4950222 c.589_591delAAC p.N197delN Deletion - In frame 12:56207657-56207659 - AOCS-117-3-3 COSM4150248 c.286C>A p.L96I Substitution - Missense 12:56210373-56210373 - TCGA-A6-3809-01 COSM5086722 c.362G>A p.G121D Substitution - Missense 12:56210297-56210297 - CSCC-41-T COSM4510570 c.841C>T p.P281S Substitution - Missense 12:56206560-56206560 - I2L-P19Ta-Tumor-Organoid COSM5361550 c.56C>A p.P19H Substitution - Missense 12:56213992-56213992 - YULAN COSM1705808 c.25C>T p.Q9* Substitution - Nonsense 12:56214023-56214023 - CSCC-7-T COSM4497194 c.491C>T p.A164V Substitution - Missense 12:56208170-56208170 - HCA7 COSM1935866 c.836G>A p.R279H Substitution - Missense 12:56206565-56206565 - TCGA-AN-A046-01 COSM3812569 c.733G>A p.E245K Substitution - Missense 12:56206668-56206668 - YUSIV COSM5375618 c.328C>T p.P110S Substitution - Missense 12:56210331-56210331 - TCGA-E2-A1BD-01 COSM431501 c.533G>A p.R178H Substitution - Missense 12:56207715-56207715 - TCGA-D1-A163-01 COSM941579 c.492G>T p.A164A Substitution - coding silent 12:56208169-56208169 - HCC56 COSM1606380 c.226T>C p.L76L Substitution - coding silent 12:56210433-56210433 - 8050103 COSM3384510 c.486G>T p.Q162H Substitution - Missense 12:56208175-56208175 - BD186T COSM5501223 c.847A>T p.K283* Substitution - Nonsense 12:56206554-56206554 - TCGA-AG-3598-01 COSM288006 c.312C>T p.S104S Substitution - coding silent 12:56210347-56210347 - CSCC-52-T COSM4486257 c.302C>T p.S101F Substitution - Missense 12:56210357-56210357 - PT16_1 COSM5898454 c.348T>G p.C116W Substitution - Missense 12:56210311-56210311 - TCGA-HU-A4G8-01 COSM1935866 c.836G>A p.R279H Substitution - Missense 12:56206565-56206565 - 06-P036 COSM4575590 c.186C>T p.V62V Substitution - coding silent 12:56210473-56210473 - TCGA-CA-6718-01 COSM1363070 c.587A>G p.Y196C Substitution - Missense 12:56207661-56207661 - TCGA-AP-A056-01 COSM941578 c.502C>T p.R168* Substitution - Nonsense 12:56207746-56207746 - TCGA-AM-5821-01 COSM3688339 c.121G>A p.A41T Substitution - Missense 12:56210538-56210538 - TCGA-D1-A163-01 COSM941576 c.626C>T p.A209V Substitution - Missense 12:56206775-56206775 - TCGA-AA-3848-01 COSM271796 c.217C>T p.R73W Substitution - Missense 12:56210442-56210442 - VLTS-5 COSM5702824 c.703G>A p.E235K Substitution - Missense 12:56206698-56206698 - TCGA-B5-A11E-01 COSM941581 c.255C>T p.N85N Substitution - coding silent 12:56210404-56210404 - TCGA-IR-A3LK-01 COSM4818281 c.874G>A p.E292K Substitution - Missense 12:56206527-56206527 - DLD1 COSM941581 c.255C>T p.N85N Substitution - coding silent 12:56210404-56210404 - 3N50-VS-3T50 COSM4982953 c.447C>T p.I149I Substitution - coding silent 12:56208214-56208214 - TCGA-EW-A1PC-01 COSM3812568 c.870C>T p.A290A Substitution - coding silent 12:56206531-56206531 - HCT8 COSM941581 c.255C>T p.N85N Substitution - coding silent 12:56210404-56210404 - TCGA-AC-A23H-01 COSM3812570 c.564G>A p.Q188Q Substitution - coding silent 12:56207684-56207684 - 7996 COSM5613578 c.265G>A p.G89S Substitution - Missense 12:56210394-56210394 - SJOS009_D COSM4575590 c.186C>T p.V62V Substitution - coding silent 12:56210473-56210473 - TCGA-D1-A103-01 COSM941574 c.932C>T p.A311V Substitution - Missense 12:56206469-56206469 - LIM2551 COSM4643741 c.842C>A p.P281H Substitution - Missense 12:56206559-56206559 - BCM617T COSM4950222 c.589_591delAAC p.N197delN Deletion - In frame 12:56207657-56207659 - TCGA-D1-A160-01 COSM941577 c.542G>T p.R181L Substitution - Missense 12:56207706-56207706 - NCI-H226 COSM1677083 c.218G>A p.R73Q Substitution - Missense 12:56210441-56210441 - ESCC_BICR_005T COSM5439069 c.503G>A p.R168Q Substitution - Missense 12:56207745-56207745 - PD13165a COSM5773321 c.208C>T p.R70W Substitution - Missense 12:56210451-56210451 - 37M COSM5584013 c.246C>T p.A82A Substitution - coding silent 12:56210413-56210413 - TCGA-AP-A059-01 COSM941580 c.281T>C p.V94A Substitution - Missense 12:56210378-56210378 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524502 12q13.13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L306R c.917T>G 12 56600268 HNSC C A Missense p.R181L c.542G>T 12 56601490 UCEC C A Nonsense p.G23* c.67G>T 12 56607765 BRCA C A Synonymous p.A164A c.492G>T 12 56601953 UCEC C T Missense p.A63T c.187G>A 12 56604256 STAD C T Missense p.G89S c.265G>A 12 56604178 NSCLC C T Missense p.R178H c.533G>A 12 56601499 BRCA C T Missense p.R213H c.638G>A 12 56600547 BLCA G A Missense p.A209V c.626C>T 12 56600559 UCEC G A Missense p.P281S c.841C>T 12 56600344 CM G A Missense p.P32S c.94C>T 12 56604349 BRCA G A Missense p.R73W c.217C>T 12 56604226 COREAD G A Missense p.S48F c.143C>T 12 56604300 HNSC G A Synonymous p.R231R c.693C>T 12 56600492 CM G A Synonymous p.S104S c.312C>T 12 56604131 COREAD G C Missense p.T61R c.182C>G 12 56604261 UCEC