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 2 239353166 239353166 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr2:239353166C>T c.678C>T c.(676-678)gtC>gtT p.V226V BLCA 2 239353221 239353221 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:239353221C>T c.733C>T c.(733-735)Cgc>Tgc p.R245C BRCA 2 239353148 239353148 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 g.chr2:239353148C>T c.660C>T c.(658-660)ttC>ttT p.F220F BRCA 2 239353225 239353225 + Missense_Mutation SNP A A C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr2:239353225A>C c.737A>C c.(736-738)cAc>cCc p.H246P BRCA 2 239353276 239353276 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:239353276T>C c.788T>C c.(787-789)cTg>cCg p.L263P COAD 2 239342300 239342300 + Missense_Mutation SNP C C T TCGA-AA-3527-01A-01W-0831-10 TCGA-AA-3527-10A-01W-0831-10 g.chr2:239342300C>T c.155C>T c.(154-156)aCc>aTc p.T52I COAD 2 239344456 239344456 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:239344456G>A c.296G>A c.(295-297)cGg>cAg p.R99Q COAD 2 239353086 239353086 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:239353086G>A c.598G>A c.(598-600)Gca>Aca p.A200T COAD 2 239355080 239355080 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:239355080C>T c.936C>T c.(934-936)ggC>ggT p.G312G COAD 2 239355107 239355107 + Silent SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:239355107G>A c.963G>A c.(961-963)tcG>tcA p.S321S COADREAD 2 239342300 239342300 + Missense_Mutation SNP C C T TCGA-AA-3527-01A-01W-0831-10 TCGA-AA-3527-10A-01W-0831-10 g.chr2:239342300C>T c.155C>T c.(154-156)aCc>aTc p.T52I COADREAD 2 239344456 239344456 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:239344456G>A c.296G>A c.(295-297)cGg>cAg p.R99Q COADREAD 2 239353021 239353021 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:239353021C>A c.533C>A c.(532-534)cCt>cAt p.P178H COADREAD 2 239353086 239353086 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:239353086G>A c.598G>A c.(598-600)Gca>Aca p.A200T COADREAD 2 239355080 239355080 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:239355080C>T c.936C>T c.(934-936)ggC>ggT p.G312G COADREAD 2 239355107 239355107 + Silent SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:239355107G>A c.963G>A c.(961-963)tcG>tcA p.S321S ESCA 2 239353340 239353340 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr2:239353340G>T c.852G>T c.(850-852)gaG>gaT p.E284D ESCA 2 239355133 239355133 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr2:239355133A>C c.989A>C c.(988-990)aAg>aCg p.K330T GBMLGG 2 239344637 239344637 + Silent SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr2:239344637C>A c.477C>A c.(475-477)atC>atA p.I159I HNSC 2 239342233 239342233 + Missense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr2:239342233G>T c.88G>T c.(88-90)Gat>Tat p.D30Y HNSC 2 239342262 239342262 + Silent SNP G G A TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr2:239342262G>A c.117G>A c.(115-117)acG>acA p.T39T HNSC 2 239342304 239342304 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr2:239342304C>T c.159C>T c.(157-159)ctC>ctT p.L53L HNSC 2 239344391 239344391 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr2:239344391C>T c.231C>T c.(229-231)ctC>ctT p.L77L HNSC 2 239344474 239344474 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr2:239344474A>G c.314A>G c.(313-315)gAt>gGt p.D105G HNSC 2 239353338 239353338 + Missense_Mutation SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr2:239353338G>A c.850G>A c.(850-852)Gag>Aag p.E284K KIPAN 2 239353054 239353054 + Missense_Mutation SNP C C T TCGA-BP-5168-01A-01D-1421-08 TCGA-BP-5168-11A-01D-1421-08 g.chr2:239353054C>T c.566C>T c.(565-567)aCc>aTc p.T189I KIPAN 2 239353298 239353298 + Silent SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chr2:239353298G>A c.810G>A c.(808-810)tcG>tcA p.S270S KIRC 2 239353054 239353054 + Missense_Mutation SNP C C T TCGA-BP-5168-01A-01D-1421-08 TCGA-BP-5168-11A-01D-1421-08 g.chr2:239353054C>T c.566C>T c.(565-567)aCc>aTc p.T189I KIRC 2 239353298 239353298 + Silent SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chr2:239353298G>A c.810G>A c.(808-810)tcG>tcA p.S270S LGG 2 239344637 239344637 + Silent SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr2:239344637C>A c.477C>A c.(475-477)atC>atA p.I159I LUAD 2 239353045 239353045 + Missense_Mutation SNP G G T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr2:239353045G>T c.557G>T c.(556-558)cGg>cTg p.R186L LUSC 2 239344490 239344490 + Missense_Mutation SNP A A C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr2:239344490A>C c.330A>C c.(328-330)aaA>aaC p.K110N PAAD 2 239342283 239342283 + Nonsense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 g.chr2:239342283C>G c.138C>G c.(136-138)taC>taG p.Y46* PRAD 2 239344476 239344476 + Missense_Mutation SNP C C G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 g.chr2:239344476C>G c.316C>G c.(316-318)Ctg>Gtg p.L106V PRAD 2 239344527 239344527 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:239344527C>T c.367C>T c.(367-369)Cac>Tac p.H123Y PRAD 2 239344584 239344584 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:239344584C>T c.424C>T c.(424-426)Cac>Tac p.H142Y PRAD 2 239344591 239344591 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:239344591G>A c.431G>A c.(430-432)cGc>cAc p.R144H PRAD 2 239353281 239353281 + Silent SNP C C T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 g.chr2:239353281C>T c.793C>T c.(793-795)Cta>Tta p.L265L READ 2 239353021 239353021 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:239353021C>A c.533C>A c.(532-534)cCt>cAt p.P178H SKCM 2 239342322 239342322 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr2:239342322G>A c.177G>A c.(175-177)gaG>gaA p.E59E SKCM 2 239344455 239344455 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr2:239344455C>T c.295C>T c.(295-297)Cgg>Tgg p.R99W SKCM 2 239353336 239353336 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:239353336C>T c.848C>T c.(847-849)cCt>cTt p.P283L

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 2 239353303 239353303 single base substitution G A 3_prime_UTR_variant BLCA-CN 2 239353303 239353303 single base substitution G A downstream_gene_variant BLCA-CN 2 239353303 239353303 single base substitution G A exon_variant BLCA-CN 2 239353303 239353303 single base substitution G A missense_variant G171D 512G>A BLCA-CN 2 239353303 239353303 single base substitution G A missense_variant G272D 815G>A BLCA-CN 2 239353303 239353303 single base substitution G A upstream_gene_variant BLCA-US 2 239353166 239353166 single base substitution C T 3_prime_UTR_variant BLCA-US 2 239353166 239353166 single base substitution C T downstream_gene_variant BLCA-US 2 239353166 239353166 single base substitution C T exon_variant BLCA-US 2 239353166 239353166 single base substitution C T synonymous_variant V125V 375C>T BLCA-US 2 239353166 239353166 single base substitution C T synonymous_variant V226V 678C>T BLCA-US 2 239353166 239353166 single base substitution C T upstream_gene_variant BOCA-FR 2 239354064 239354064 single base substitution C T downstream_gene_variant BOCA-FR 2 239354064 239354064 single base substitution C T intron_variant BOCA-FR 2 239354064 239354064 single base substitution C T upstream_gene_variant BRCA-EU 2 239332284 239332284 single base substitution C G upstream_gene_variant BRCA-EU 2 239332592 239332592 single base substitution C T upstream_gene_variant BRCA-EU 2 239333006 239333006 single base substitution T C upstream_gene_variant BRCA-EU 2 239333446 239333446 single base substitution G C upstream_gene_variant BRCA-EU 2 239333771 239333771 single base substitution G A upstream_gene_variant BRCA-EU 2 239335490 239335490 single base substitution G A 5_prime_UTR_variant BRCA-EU 2 239335490 239335490 single base substitution G A exon_variant BRCA-EU 2 239335490 239335490 single base substitution G A intron_variant BRCA-EU 2 239335490 239335490 single base substitution G A upstream_gene_variant BRCA-EU 2 239335518 239335518 single base substitution G C 5_prime_UTR_variant BRCA-EU 2 239335518 239335518 single base substitution G C exon_variant BRCA-EU 2 239335518 239335518 single base substitution G C intron_variant BRCA-EU 2 239335518 239335518 single base substitution G C upstream_gene_variant BRCA-EU 2 239337224 239337224 single base substitution C T intron_variant BRCA-EU 2 239337224 239337224 single base substitution C T upstream_gene_variant BRCA-EU 2 239337889 239337889 single base substitution T G intron_variant BRCA-EU 2 239337889 239337889 single base substitution T G upstream_gene_variant BRCA-EU 2 239338306 239338306 single base substitution G A intron_variant BRCA-EU 2 239338306 239338306 single base substitution G A upstream_gene_variant BRCA-EU 2 239338343 239338343 single base substitution G T intron_variant BRCA-EU 2 239338343 239338343 single base substitution G T upstream_gene_variant BRCA-EU 2 239338405 239338405 single base substitution C T intron_variant BRCA-EU 2 239338405 239338405 single base substitution C T upstream_gene_variant BRCA-EU 2 239339125 239339125 single base substitution C G intron_variant BRCA-EU 2 239339125 239339125 single base substitution C G upstream_gene_variant BRCA-EU 2 239340895 239340895 single base substitution A G intron_variant BRCA-EU 2 239340895 239340895 single base substitution A G upstream_gene_variant BRCA-EU 2 239340909 239340909 single base substitution C G intron_variant BRCA-EU 2 239340909 239340909 single base substitution C G upstream_gene_variant BRCA-EU 2 239342158 239342158 single base substitution C A exon_variant BRCA-EU 2 239342158 239342158 single base substitution C A intron_variant BRCA-EU 2 239342158 239342158 single base substitution C A upstream_gene_variant BRCA-EU 2 239342287 239342287 single base substitution G A exon_variant BRCA-EU 2 239342287 239342287 single base substitution G A intron_variant BRCA-EU 2 239342287 239342287 single base substitution G A missense_variant G48R 142G>A BRCA-EU 2 239342287 239342287 single base substitution G A upstream_gene_variant BRCA-EU 2 239345120 239345120 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 239345120 239345120 deletion of <=200bp A - intron_variant BRCA-EU 2 239349128 239349128 single base substitution G A downstream_gene_variant BRCA-EU 2 239349128 239349128 single base substitution G A intron_variant BRCA-EU 2 239349654 239349654 single base substitution G T intron_variant BRCA-EU 2 239350044 239350044 single base substitution G A intron_variant BRCA-EU 2 239350044 239350044 single base substitution G A upstream_gene_variant BRCA-EU 2 239351734 239351734 single base substitution A G intron_variant BRCA-EU 2 239351734 239351734 single base substitution A G upstream_gene_variant BRCA-EU 2 239352393 239352393 single base substitution T C intron_variant BRCA-EU 2 239352393 239352393 single base substitution T C upstream_gene_variant BRCA-EU 2 239353272 239353272 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 239353272 239353272 single base substitution A G downstream_gene_variant BRCA-EU 2 239353272 239353272 single base substitution A G exon_variant BRCA-EU 2 239353272 239353272 single base substitution A G missense_variant N161D 481A>G BRCA-EU 2 239353272 239353272 single base substitution A G missense_variant N262D 784A>G BRCA-EU 2 239353272 239353272 single base substitution A G upstream_gene_variant BRCA-EU 2 239353517 239353517 single base substitution T C downstream_gene_variant BRCA-EU 2 239353517 239353517 single base substitution T C intron_variant BRCA-EU 2 239353517 239353517 single base substitution T C upstream_gene_variant BRCA-EU 2 239353985 239353985 single base substitution C G downstream_gene_variant BRCA-EU 2 239353985 239353985 single base substitution C G intron_variant BRCA-EU 2 239353985 239353985 single base substitution C G upstream_gene_variant BRCA-EU 2 239354246 239354246 single base substitution A T downstream_gene_variant BRCA-EU 2 239354246 239354246 single base substitution A T intron_variant BRCA-EU 2 239354246 239354246 single base substitution A T upstream_gene_variant BRCA-EU 2 239355055 239355055 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 239355055 239355055 single base substitution G A downstream_gene_variant BRCA-EU 2 239355055 239355055 single base substitution G A exon_variant BRCA-EU 2 239355055 239355055 single base substitution G A missense_variant R203H 608G>A BRCA-EU 2 239355055 239355055 single base substitution G A missense_variant R304H 911G>A BRCA-EU 2 239355055 239355055 single base substitution G A upstream_gene_variant BRCA-EU 2 239355329 239355329 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 239355329 239355329 single base substitution T A downstream_gene_variant BRCA-EU 2 239355329 239355329 single base substitution T A intron_variant BRCA-EU 2 239355329 239355329 single base substitution T A upstream_gene_variant BRCA-EU 2 239355782 239355782 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 239355782 239355782 single base substitution C G downstream_gene_variant BRCA-EU 2 239355782 239355782 single base substitution C G intron_variant BRCA-EU 2 239355782 239355782 single base substitution C G upstream_gene_variant BRCA-EU 2 239355919 239355919 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 239355919 239355919 single base substitution C G downstream_gene_variant BRCA-EU 2 239355919 239355919 single base substitution C G intron_variant BRCA-EU 2 239355919 239355919 single base substitution C G upstream_gene_variant BRCA-EU 2 239356114 239356114 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 239356114 239356114 single base substitution T C downstream_gene_variant BRCA-EU 2 239356114 239356114 single base substitution T C intron_variant BRCA-EU 2 239356114 239356114 single base substitution T C upstream_gene_variant BRCA-EU 2 239356353 239356353 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 239356353 239356353 single base substitution C G downstream_gene_variant BRCA-EU 2 239356353 239356353 single base substitution C G intron_variant BRCA-EU 2 239356353 239356353 single base substitution C G upstream_gene_variant BRCA-EU 2 239356379 239356379 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 239356379 239356379 single base substitution C T downstream_gene_variant BRCA-EU 2 239356379 239356379 single base substitution C T intron_variant BRCA-EU 2 239356379 239356379 single base substitution C T upstream_gene_variant BRCA-EU 2 239358260 239358260 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 239358260 239358260 single base substitution C T downstream_gene_variant BRCA-EU 2 239358260 239358260 single base substitution C T intron_variant BRCA-EU 2 239358260 239358260 single base substitution C T upstream_gene_variant BRCA-EU 2 239358593 239358593 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 239358593 239358593 single base substitution C A downstream_gene_variant BRCA-EU 2 239358593 239358593 single base substitution C A intron_variant BRCA-EU 2 239358593 239358593 single base substitution C A upstream_gene_variant BRCA-EU 2 239359027 239359027 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 239359027 239359027 single base substitution G A downstream_gene_variant BRCA-EU 2 239359027 239359027 single base substitution G A intron_variant BRCA-EU 2 239359723 239359723 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 239359723 239359723 single base substitution C G downstream_gene_variant BRCA-EU 2 239359723 239359723 single base substitution C G intron_variant BRCA-EU 2 239361112 239361112 single base substitution G A downstream_gene_variant BRCA-EU 2 239361272 239361272 single base substitution A G downstream_gene_variant BRCA-EU 2 239361740 239361740 single base substitution C T downstream_gene_variant BRCA-EU 2 239363421 239363421 single base substitution G A downstream_gene_variant BRCA-FR 2 239355919 239355919 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 239355919 239355919 single base substitution C G downstream_gene_variant BRCA-FR 2 239355919 239355919 single base substitution C G intron_variant BRCA-FR 2 239355919 239355919 single base substitution C G upstream_gene_variant BRCA-FR 2 239356114 239356114 single base substitution T C 3_prime_UTR_variant BRCA-FR 2 239356114 239356114 single base substitution T C downstream_gene_variant BRCA-FR 2 239356114 239356114 single base substitution T C intron_variant BRCA-FR 2 239356114 239356114 single base substitution T C upstream_gene_variant BRCA-FR 2 239358423 239358423 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 239358423 239358423 single base substitution G A downstream_gene_variant BRCA-FR 2 239358423 239358423 single base substitution G A intron_variant BRCA-FR 2 239358423 239358423 single base substitution G A upstream_gene_variant BRCA-UK 2 239339437 239339437 single base substitution C G intron_variant BRCA-UK 2 239339437 239339437 single base substitution C G upstream_gene_variant BRCA-UK 2 239344617 239344617 single base substitution C T 3_prime_UTR_variant BRCA-UK 2 239344617 239344617 single base substitution C T downstream_gene_variant BRCA-UK 2 239344617 239344617 single base substitution C T exon_variant BRCA-UK 2 239344617 239344617 single base substitution C T intron_variant BRCA-UK 2 239344617 239344617 single base substitution C T missense_variant R153C 457C>T BRCA-UK 2 239355804 239355804 single base substitution C T 3_prime_UTR_variant BRCA-UK 2 239355804 239355804 single base substitution C T downstream_gene_variant BRCA-UK 2 239355804 239355804 single base substitution C T intron_variant BRCA-UK 2 239355804 239355804 single base substitution C T upstream_gene_variant BRCA-US 2 239353148 239353148 single base substitution C T 3_prime_UTR_variant BRCA-US 2 239353148 239353148 single base substitution C T downstream_gene_variant BRCA-US 2 239353148 239353148 single base substitution C T exon_variant BRCA-US 2 239353148 239353148 single base substitution C T synonymous_variant F119F 357C>T BRCA-US 2 239353148 239353148 single base substitution C T synonymous_variant F220F 660C>T BRCA-US 2 239353148 239353148 single base substitution C T upstream_gene_variant BRCA-US 2 239353225 239353225 single base substitution A C 3_prime_UTR_variant BRCA-US 2 239353225 239353225 single base substitution A C downstream_gene_variant BRCA-US 2 239353225 239353225 single base substitution A C exon_variant BRCA-US 2 239353225 239353225 single base substitution A C missense_variant H145P 434A>C BRCA-US 2 239353225 239353225 single base substitution A C missense_variant H246P 737A>C BRCA-US 2 239353225 239353225 single base substitution A C upstream_gene_variant BRCA-US 2 239353276 239353276 single base substitution T C 3_prime_UTR_variant BRCA-US 2 239353276 239353276 single base substitution T C downstream_gene_variant BRCA-US 2 239353276 239353276 single base substitution T C exon_variant BRCA-US 2 239353276 239353276 single base substitution T C missense_variant L162P 485T>C BRCA-US 2 239353276 239353276 single base substitution T C missense_variant L263P 788T>C BRCA-US 2 239353276 239353276 single base substitution T C upstream_gene_variant BTCA-JP 2 239342346 239342346 single base substitution G A intron_variant BTCA-JP 2 239342346 239342346 single base substitution G A upstream_gene_variant BTCA-JP 2 239344514 239344514 single base substitution T C 3_prime_UTR_variant BTCA-JP 2 239344514 239344514 single base substitution T C exon_variant BTCA-JP 2 239344514 239344514 single base substitution T C intron_variant BTCA-JP 2 239344514 239344514 single base substitution T C synonymous_variant A118A 354T>C BTCA-JP 2 239344704 239344704 single base substitution C T downstream_gene_variant BTCA-JP 2 239344704 239344704 single base substitution C T intron_variant CLLE-ES 2 239344280 239344280 single base substitution G T intron_variant CLLE-ES 2 239356290 239356290 single base substitution T G 3_prime_UTR_variant CLLE-ES 2 239356290 239356290 single base substitution T G downstream_gene_variant CLLE-ES 2 239356290 239356290 single base substitution T G intron_variant CLLE-ES 2 239356290 239356290 single base substitution T G upstream_gene_variant COAD-US 2 239344412 239344412 single base substitution C T exon_variant COAD-US 2 239344412 239344412 single base substitution C T intron_variant COAD-US 2 239344412 239344412 single base substitution C T synonymous_variant I84I 252C>T COAD-US 2 239344456 239344456 single base substitution G A exon_variant COAD-US 2 239344456 239344456 single base substitution G A intron_variant COAD-US 2 239344456 239344456 single base substitution G A missense_variant R99Q 296G>A COAD-US 2 239355080 239355080 single base substitution C T 3_prime_UTR_variant COAD-US 2 239355080 239355080 single base substitution C T downstream_gene_variant COAD-US 2 239355080 239355080 single base substitution C T exon_variant COAD-US 2 239355080 239355080 single base substitution C T synonymous_variant G211G 633C>T COAD-US 2 239355080 239355080 single base substitution C T synonymous_variant G312G 936C>T COAD-US 2 239355080 239355080 single base substitution C T upstream_gene_variant COCA-CN 2 239342096 239342096 single base substitution G A exon_variant COCA-CN 2 239342096 239342096 single base substitution G A intron_variant COCA-CN 2 239342096 239342096 single base substitution G A splice_region_variant COCA-CN 2 239342096 239342096 single base substitution G A upstream_gene_variant ESAD-UK 2 239330504 239330504 single base substitution C T upstream_gene_variant ESAD-UK 2 239331242 239331242 single base substitution C T upstream_gene_variant ESAD-UK 2 239333964 239333964 single base substitution C T upstream_gene_variant ESAD-UK 2 239337048 239337048 single base substitution C T intron_variant ESAD-UK 2 239337048 239337048 single base substitution C T upstream_gene_variant ESAD-UK 2 239339016 239339016 single base substitution C T intron_variant ESAD-UK 2 239339016 239339016 single base substitution C T upstream_gene_variant ESAD-UK 2 239339370 239339370 single base substitution C T intron_variant ESAD-UK 2 239339370 239339370 single base substitution C T upstream_gene_variant ESAD-UK 2 239341203 239341203 single base substitution G A intron_variant ESAD-UK 2 239341203 239341203 single base substitution G A upstream_gene_variant ESAD-UK 2 239342906 239342906 deletion of <=200bp C - intron_variant ESAD-UK 2 239342906 239342906 deletion of <=200bp C - upstream_gene_variant ESAD-UK 2 239343483 239343483 single base substitution C T intron_variant ESAD-UK 2 239343483 239343483 single base substitution C T upstream_gene_variant ESAD-UK 2 239343494 239343494 single base substitution C T intron_variant ESAD-UK 2 239343494 239343494 single base substitution C T upstream_gene_variant ESAD-UK 2 239350343 239350343 single base substitution T G intron_variant ESAD-UK 2 239350343 239350343 single base substitution T G upstream_gene_variant ESAD-UK 2 239350517 239350517 single base substitution A C intron_variant ESAD-UK 2 239350517 239350517 single base substitution A C upstream_gene_variant ESAD-UK 2 239352687 239352687 single base substitution C T intron_variant ESAD-UK 2 239352687 239352687 single base substitution C T upstream_gene_variant ESAD-UK 2 239353221 239353221 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 239353221 239353221 single base substitution C A downstream_gene_variant ESAD-UK 2 239353221 239353221 single base substitution C A exon_variant ESAD-UK 2 239353221 239353221 single base substitution C A missense_variant R144S 430C>A ESAD-UK 2 239353221 239353221 single base substitution C A missense_variant R245S 733C>A ESAD-UK 2 239353221 239353221 single base substitution C A upstream_gene_variant ESAD-UK 2 239354712 239354712 single base substitution C T downstream_gene_variant ESAD-UK 2 239354712 239354712 single base substitution C T intron_variant ESAD-UK 2 239354712 239354712 single base substitution C T upstream_gene_variant ESAD-UK 2 239359177 239359177 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 239359177 239359177 single base substitution G A downstream_gene_variant ESAD-UK 2 239359177 239359177 single base substitution G A intron_variant ESAD-UK 2 239360222 239360222 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 239360222 239360222 single base substitution C T downstream_gene_variant ESAD-UK 2 239360222 239360222 single base substitution C T intron_variant ESAD-UK 2 239360460 239360460 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 239360460 239360460 single base substitution G A exon_variant ESAD-UK 2 239363314 239363314 single base substitution C T downstream_gene_variant KIRC-US 2 239353054 239353054 single base substitution C T 3_prime_UTR_variant KIRC-US 2 239353054 239353054 single base substitution C T downstream_gene_variant KIRC-US 2 239353054 239353054 single base substitution C T exon_variant KIRC-US 2 239353054 239353054 single base substitution C T missense_variant T189I 566C>T KIRC-US 2 239353054 239353054 single base substitution C T missense_variant T88I 263C>T KIRC-US 2 239353054 239353054 single base substitution C T upstream_gene_variant KIRP-US 2 239344354 239344354 single base substitution G A intron_variant KIRP-US 2 239344354 239344354 single base substitution G A missense_variant R65H 194G>A KIRP-US 2 239344354 239344354 single base substitution G A splice_region_variant LAML-KR 2 239361673 239361673 single base substitution A G downstream_gene_variant LAML-KR 2 239361683 239361683 single base substitution A G downstream_gene_variant LAML-KR 2 239361905 239361905 single base substitution G A downstream_gene_variant LAML-KR 2 239361956 239361956 single base substitution C A downstream_gene_variant LGG-US 2 239344637 239344637 single base substitution C A 3_prime_UTR_variant LGG-US 2 239344637 239344637 single base substitution C A downstream_gene_variant LGG-US 2 239344637 239344637 single base substitution C A exon_variant LGG-US 2 239344637 239344637 single base substitution C A intron_variant LGG-US 2 239344637 239344637 single base substitution C A synonymous_variant I159I 477C>A LICA-CN 2 239344517 239344517 single base substitution G T 3_prime_UTR_variant LICA-CN 2 239344517 239344517 single base substitution G T exon_variant LICA-CN 2 239344517 239344517 single base substitution G T intron_variant LICA-CN 2 239344517 239344517 single base substitution G T synonymous_variant V119V 357G>T LICA-CN 2 239355133 239355133 single base substitution A T 3_prime_UTR_variant LICA-CN 2 239355133 239355133 single base substitution A T downstream_gene_variant LICA-CN 2 239355133 239355133 single base substitution A T exon_variant LICA-CN 2 239355133 239355133 single base substitution A T missense_variant K229M 686A>T LICA-CN 2 239355133 239355133 single base substitution A T missense_variant K330M 989A>T LICA-CN 2 239355133 239355133 single base substitution A T upstream_gene_variant LIHC-US 2 239353034 239353034 single base substitution T C 3_prime_UTR_variant LIHC-US 2 239353034 239353034 single base substitution T C downstream_gene_variant LIHC-US 2 239353034 239353034 single base substitution T C exon_variant LIHC-US 2 239353034 239353034 single base substitution T C synonymous_variant P182P 546T>C LIHC-US 2 239353034 239353034 single base substitution T C synonymous_variant P81P 243T>C LIHC-US 2 239353034 239353034 single base substitution T C upstream_gene_variant LINC-JP 2 239335609 239335609 single base substitution G A 5_prime_UTR_variant LINC-JP 2 239335609 239335609 single base substitution G A exon_variant LINC-JP 2 239335609 239335609 single base substitution G A intron_variant LINC-JP 2 239335609 239335609 single base substitution G A upstream_gene_variant LINC-JP 2 239354798 239354798 deletion of <=200bp T - downstream_gene_variant LINC-JP 2 239354798 239354798 deletion of <=200bp T - intron_variant LINC-JP 2 239354798 239354798 deletion of <=200bp T - upstream_gene_variant LINC-JP 2 239360853 239360853 single base substitution G T 3_prime_UTR_variant LINC-JP 2 239360853 239360853 single base substitution G T exon_variant LIRI-JP 2 239330624 239330624 single base substitution C T upstream_gene_variant LIRI-JP 2 239331156 239331156 single base substitution C T upstream_gene_variant LIRI-JP 2 239331261 239331261 single base substitution G A upstream_gene_variant LIRI-JP 2 239332708 239332708 single base substitution C A upstream_gene_variant LIRI-JP 2 239334291 239334291 single base substitution A T upstream_gene_variant LIRI-JP 2 239334593 239334593 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 239336119 239336119 single base substitution A G intron_variant LIRI-JP 2 239336896 239336906 deletion of <=200bp TTCCTGGGGAA - intron_variant LIRI-JP 2 239342741 239342741 single base substitution T C intron_variant LIRI-JP 2 239342741 239342741 single base substitution T C upstream_gene_variant LIRI-JP 2 239343726 239343726 single base substitution C G intron_variant LIRI-JP 2 239343726 239343726 single base substitution C G upstream_gene_variant LIRI-JP 2 239348329 239348329 single base substitution G C downstream_gene_variant LIRI-JP 2 239348329 239348329 single base substitution G C intron_variant LIRI-JP 2 239351058 239351058 single base substitution T C intron_variant LIRI-JP 2 239351058 239351058 single base substitution T C upstream_gene_variant LIRI-JP 2 239351738 239351738 single base substitution A G intron_variant LIRI-JP 2 239351738 239351738 single base substitution A G upstream_gene_variant LIRI-JP 2 239353758 239353758 single base substitution G A downstream_gene_variant LIRI-JP 2 239353758 239353758 single base substitution G A intron_variant LIRI-JP 2 239353758 239353758 single base substitution G A upstream_gene_variant LIRI-JP 2 239354070 239354070 single base substitution C A downstream_gene_variant LIRI-JP 2 239354070 239354070 single base substitution C A intron_variant LIRI-JP 2 239354070 239354070 single base substitution C A upstream_gene_variant LIRI-JP 2 239355997 239355997 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 239355997 239355997 single base substitution A G downstream_gene_variant LIRI-JP 2 239355997 239355997 single base substitution A G intron_variant LIRI-JP 2 239355997 239355997 single base substitution A G upstream_gene_variant LIRI-JP 2 239358150 239358150 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 239358150 239358150 single base substitution G T downstream_gene_variant LIRI-JP 2 239358150 239358150 single base substitution G T intron_variant LIRI-JP 2 239358150 239358150 single base substitution G T upstream_gene_variant LIRI-JP 2 239358250 239358250 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 239358250 239358250 single base substitution C T downstream_gene_variant LIRI-JP 2 239358250 239358250 single base substitution C T intron_variant LIRI-JP 2 239358250 239358250 single base substitution C T upstream_gene_variant LIRI-JP 2 239358528 239358528 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 239358528 239358528 single base substitution A G downstream_gene_variant LIRI-JP 2 239358528 239358528 single base substitution A G intron_variant LIRI-JP 2 239358528 239358528 single base substitution A G upstream_gene_variant LIRI-JP 2 239359252 239359252 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 239359252 239359252 single base substitution C A downstream_gene_variant LIRI-JP 2 239359252 239359252 single base substitution C A intron_variant LIRI-JP 2 239359924 239359924 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 239359924 239359924 single base substitution G A downstream_gene_variant LIRI-JP 2 239359924 239359924 single base substitution G A intron_variant LIRI-JP 2 239360218 239360218 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 239360218 239360218 single base substitution A G downstream_gene_variant LIRI-JP 2 239360218 239360218 single base substitution A G intron_variant LIRI-JP 2 239360223 239360223 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 239360223 239360223 single base substitution T A downstream_gene_variant LIRI-JP 2 239360223 239360223 single base substitution T A intron_variant LIRI-JP 2 239360279 239360279 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 239360279 239360279 single base substitution C T downstream_gene_variant LIRI-JP 2 239360279 239360279 single base substitution C T intron_variant LUSC-KR 2 239343746 239343746 single base substitution T C intron_variant LUSC-KR 2 239343746 239343746 single base substitution T C upstream_gene_variant LUSC-KR 2 239347137 239347137 single base substitution G A downstream_gene_variant LUSC-KR 2 239347137 239347137 single base substitution G A intron_variant LUSC-KR 2 239350873 239350873 single base substitution C T intron_variant LUSC-KR 2 239350873 239350873 single base substitution C T upstream_gene_variant LUSC-KR 2 239353641 239353641 single base substitution G T downstream_gene_variant LUSC-KR 2 239353641 239353641 single base substitution G T intron_variant LUSC-KR 2 239353641 239353641 single base substitution G T upstream_gene_variant LUSC-KR 2 239355454 239355454 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 239355454 239355454 single base substitution C T downstream_gene_variant LUSC-KR 2 239355454 239355454 single base substitution C T intron_variant LUSC-KR 2 239355454 239355454 single base substitution C T upstream_gene_variant LUSC-KR 2 239355995 239355995 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 239355995 239355995 single base substitution C G downstream_gene_variant LUSC-KR 2 239355995 239355995 single base substitution C G intron_variant LUSC-KR 2 239355995 239355995 single base substitution C G upstream_gene_variant LUSC-KR 2 239356977 239356977 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 239356977 239356977 single base substitution C G downstream_gene_variant LUSC-KR 2 239356977 239356977 single base substitution C G intron_variant LUSC-KR 2 239356977 239356977 single base substitution C G upstream_gene_variant LUSC-KR 2 239358341 239358341 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 239358341 239358341 single base substitution T C downstream_gene_variant LUSC-KR 2 239358341 239358341 single base substitution T C intron_variant LUSC-KR 2 239358341 239358341 single base substitution T C upstream_gene_variant LUSC-KR 2 239362785 239362785 single base substitution C T downstream_gene_variant LUSC-US 2 239344490 239344490 single base substitution A C 3_prime_UTR_variant LUSC-US 2 239344490 239344490 single base substitution A C exon_variant LUSC-US 2 239344490 239344490 single base substitution A C intron_variant LUSC-US 2 239344490 239344490 single base substitution A C missense_variant K110N 330A>C MALY-DE 2 239331532 239331532 single base substitution C G upstream_gene_variant MALY-DE 2 239340317 239340317 single base substitution T C intron_variant MALY-DE 2 239340317 239340317 single base substitution T C upstream_gene_variant MALY-DE 2 239359583 239359583 single base substitution A T 3_prime_UTR_variant MALY-DE 2 239359583 239359583 single base substitution A T downstream_gene_variant MALY-DE 2 239359583 239359583 single base substitution A T intron_variant MALY-DE 2 239364492 239364492 single base substitution G A downstream_gene_variant MALY-DE 2 239364997 239364997 single base substitution C T downstream_gene_variant MELA-AU 2 239330529 239330529 single base substitution G A upstream_gene_variant MELA-AU 2 239332191 239332191 single base substitution G A upstream_gene_variant MELA-AU 2 239332652 239332652 single base substitution C T upstream_gene_variant MELA-AU 2 239332888 239332888 single base substitution C T upstream_gene_variant MELA-AU 2 239333043 239333043 single base substitution G A upstream_gene_variant MELA-AU 2 239333187 239333187 single base substitution G A upstream_gene_variant MELA-AU 2 239333190 239333190 single base substitution G A upstream_gene_variant MELA-AU 2 239333786 239333786 single base substitution G A upstream_gene_variant MELA-AU 2 239335342 239335342 single base substitution C T upstream_gene_variant MELA-AU 2 239335441 239335441 single base substitution A T exon_variant MELA-AU 2 239335441 239335441 single base substitution A T upstream_gene_variant MELA-AU 2 239336059 239336059 single base substitution C A intron_variant MELA-AU 2 239336857 239336857 deletion of <=200bp A - intron_variant MELA-AU 2 239337017 239337017 single base substitution C T intron_variant MELA-AU 2 239337017 239337017 single base substitution C T upstream_gene_variant MELA-AU 2 239337617 239337617 single base substitution G A intron_variant MELA-AU 2 239337617 239337617 single base substitution G A upstream_gene_variant MELA-AU 2 239338224 239338224 single base substitution T A intron_variant MELA-AU 2 239338224 239338224 single base substitution T A upstream_gene_variant MELA-AU 2 239340014 239340014 single base substitution C T intron_variant MELA-AU 2 239340014 239340014 single base substitution C T upstream_gene_variant MELA-AU 2 239340082 239340082 single base substitution C T intron_variant MELA-AU 2 239340082 239340082 single base substitution C T upstream_gene_variant MELA-AU 2 239340170 239340170 single base substitution C T intron_variant MELA-AU 2 239340170 239340170 single base substitution C T upstream_gene_variant MELA-AU 2 239340391 239340391 single base substitution G A intron_variant MELA-AU 2 239340391 239340391 single base substitution G A upstream_gene_variant MELA-AU 2 239341162 239341162 single base substitution C T intron_variant MELA-AU 2 239341162 239341162 single base substitution C T upstream_gene_variant MELA-AU 2 239341163 239341163 single base substitution C T intron_variant MELA-AU 2 239341163 239341163 single base substitution C T upstream_gene_variant MELA-AU 2 239341440 239341440 single base substitution G A intron_variant MELA-AU 2 239341440 239341440 single base substitution G A upstream_gene_variant MELA-AU 2 239341543 239341543 single base substitution A T intron_variant MELA-AU 2 239341543 239341543 single base substitution A T upstream_gene_variant MELA-AU 2 239341622 239341622 single base substitution C T intron_variant MELA-AU 2 239341622 239341622 single base substitution C T upstream_gene_variant MELA-AU 2 239342322 239342322 single base substitution G A exon_variant MELA-AU 2 239342322 239342322 single base substitution G A intron_variant MELA-AU 2 239342322 239342322 single base substitution G A synonymous_variant E59E 177G>A MELA-AU 2 239342322 239342322 single base substitution G A upstream_gene_variant MELA-AU 2 239342528 239342528 single base substitution G A intron_variant MELA-AU 2 239342528 239342528 single base substitution G A upstream_gene_variant MELA-AU 2 239342640 239342640 single base substitution C T intron_variant MELA-AU 2 239342640 239342640 single base substitution C T upstream_gene_variant MELA-AU 2 239343630 239343630 single base substitution C T intron_variant MELA-AU 2 239343630 239343630 single base substitution C T upstream_gene_variant MELA-AU 2 239344268 239344268 single base substitution C T intron_variant MELA-AU 2 239344519 239344519 single base substitution T C 3_prime_UTR_variant MELA-AU 2 239344519 239344519 single base substitution T C exon_variant MELA-AU 2 239344519 239344519 single base substitution T C intron_variant MELA-AU 2 239344519 239344519 single base substitution T C missense_variant V120A 359T>C MELA-AU 2 239344570 239344570 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239344570 239344570 single base substitution C T downstream_gene_variant MELA-AU 2 239344570 239344570 single base substitution C T exon_variant MELA-AU 2 239344570 239344570 single base substitution C T intron_variant MELA-AU 2 239344570 239344570 single base substitution C T missense_variant P137L 410C>T MELA-AU 2 239344598 239344598 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239344598 239344598 single base substitution C T downstream_gene_variant MELA-AU 2 239344598 239344598 single base substitution C T exon_variant MELA-AU 2 239344598 239344598 single base substitution C T intron_variant MELA-AU 2 239344598 239344598 single base substitution C T synonymous_variant T146T 438C>T MELA-AU 2 239344876 239344876 single base substitution C T downstream_gene_variant MELA-AU 2 239344876 239344876 single base substitution C T intron_variant MELA-AU 2 239344964 239344964 single base substitution C T downstream_gene_variant MELA-AU 2 239344964 239344964 single base substitution C T intron_variant MELA-AU 2 239345168 239345168 single base substitution C T downstream_gene_variant MELA-AU 2 239345168 239345168 single base substitution C T intron_variant MELA-AU 2 239346363 239346363 single base substitution C T downstream_gene_variant MELA-AU 2 239346363 239346363 single base substitution C T intron_variant MELA-AU 2 239346414 239346414 single base substitution G A downstream_gene_variant MELA-AU 2 239346414 239346414 single base substitution G A intron_variant MELA-AU 2 239346613 239346613 single base substitution C T downstream_gene_variant MELA-AU 2 239346613 239346613 single base substitution C T intron_variant MELA-AU 2 239346901 239346901 single base substitution C T downstream_gene_variant MELA-AU 2 239346901 239346901 single base substitution C T intron_variant MELA-AU 2 239346945 239346945 single base substitution A G downstream_gene_variant MELA-AU 2 239346945 239346945 single base substitution A G intron_variant MELA-AU 2 239347099 239347099 single base substitution C T downstream_gene_variant MELA-AU 2 239347099 239347099 single base substitution C T intron_variant MELA-AU 2 239347372 239347373 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 239347372 239347373 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 239348231 239348231 single base substitution T A downstream_gene_variant MELA-AU 2 239348231 239348231 single base substitution T A intron_variant MELA-AU 2 239348358 239348358 single base substitution C T downstream_gene_variant MELA-AU 2 239348358 239348358 single base substitution C T intron_variant MELA-AU 2 239348873 239348873 single base substitution T C downstream_gene_variant MELA-AU 2 239348873 239348873 single base substitution T C intron_variant MELA-AU 2 239349273 239349273 single base substitution C T downstream_gene_variant MELA-AU 2 239349273 239349273 single base substitution C T intron_variant MELA-AU 2 239350363 239350363 single base substitution C T intron_variant MELA-AU 2 239350363 239350363 single base substitution C T upstream_gene_variant MELA-AU 2 239350956 239350956 single base substitution T C intron_variant MELA-AU 2 239350956 239350956 single base substitution T C upstream_gene_variant MELA-AU 2 239351575 239351575 insertion of <=200bp - TT intron_variant MELA-AU 2 239351575 239351575 insertion of <=200bp - TT upstream_gene_variant MELA-AU 2 239353168 239353168 single base substitution A T 3_prime_UTR_variant MELA-AU 2 239353168 239353168 single base substitution A T downstream_gene_variant MELA-AU 2 239353168 239353168 single base substitution A T exon_variant MELA-AU 2 239353168 239353168 single base substitution A T missense_variant N126I 377A>T MELA-AU 2 239353168 239353168 single base substitution A T missense_variant N227I 680A>T MELA-AU 2 239353168 239353168 single base substitution A T upstream_gene_variant MELA-AU 2 239354309 239354309 single base substitution C T downstream_gene_variant MELA-AU 2 239354309 239354309 single base substitution C T intron_variant MELA-AU 2 239354309 239354309 single base substitution C T upstream_gene_variant MELA-AU 2 239354439 239354440 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 239354439 239354440 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 239354439 239354440 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 239354845 239354845 single base substitution C T downstream_gene_variant MELA-AU 2 239354845 239354845 single base substitution C T intron_variant MELA-AU 2 239354845 239354845 single base substitution C T upstream_gene_variant MELA-AU 2 239354924 239354924 single base substitution A C downstream_gene_variant MELA-AU 2 239354924 239354924 single base substitution A C intron_variant MELA-AU 2 239354924 239354924 single base substitution A C upstream_gene_variant MELA-AU 2 239354962 239354962 single base substitution C T downstream_gene_variant MELA-AU 2 239354962 239354962 single base substitution C T intron_variant MELA-AU 2 239354962 239354962 single base substitution C T upstream_gene_variant MELA-AU 2 239354966 239354966 single base substitution C T downstream_gene_variant MELA-AU 2 239354966 239354966 single base substitution C T intron_variant MELA-AU 2 239354966 239354966 single base substitution C T upstream_gene_variant MELA-AU 2 239355031 239355031 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239355031 239355031 single base substitution C T downstream_gene_variant MELA-AU 2 239355031 239355031 single base substitution C T exon_variant MELA-AU 2 239355031 239355031 single base substitution C T missense_variant P195L 584C>T MELA-AU 2 239355031 239355031 single base substitution C T missense_variant P296L 887C>T MELA-AU 2 239355031 239355031 single base substitution C T upstream_gene_variant MELA-AU 2 239355393 239355393 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239355393 239355393 single base substitution C T downstream_gene_variant MELA-AU 2 239355393 239355393 single base substitution C T intron_variant MELA-AU 2 239355393 239355393 single base substitution C T upstream_gene_variant MELA-AU 2 239355464 239355464 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239355464 239355464 single base substitution C T downstream_gene_variant MELA-AU 2 239355464 239355464 single base substitution C T intron_variant MELA-AU 2 239355464 239355464 single base substitution C T upstream_gene_variant MELA-AU 2 239355695 239355695 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239355695 239355695 single base substitution C T downstream_gene_variant MELA-AU 2 239355695 239355695 single base substitution C T intron_variant MELA-AU 2 239355695 239355695 single base substitution C T upstream_gene_variant MELA-AU 2 239356307 239356307 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239356307 239356307 single base substitution C T downstream_gene_variant MELA-AU 2 239356307 239356307 single base substitution C T intron_variant MELA-AU 2 239356307 239356307 single base substitution C T upstream_gene_variant MELA-AU 2 239356361 239356361 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239356361 239356361 single base substitution C T downstream_gene_variant MELA-AU 2 239356361 239356361 single base substitution C T intron_variant MELA-AU 2 239356361 239356361 single base substitution C T upstream_gene_variant MELA-AU 2 239357248 239357248 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239357248 239357248 single base substitution G A downstream_gene_variant MELA-AU 2 239357248 239357248 single base substitution G A intron_variant MELA-AU 2 239357248 239357248 single base substitution G A upstream_gene_variant MELA-AU 2 239357313 239357313 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239357313 239357313 single base substitution C T downstream_gene_variant MELA-AU 2 239357313 239357313 single base substitution C T intron_variant MELA-AU 2 239357313 239357313 single base substitution C T upstream_gene_variant MELA-AU 2 239357838 239357838 single base substitution A G 3_prime_UTR_variant MELA-AU 2 239357838 239357838 single base substitution A G downstream_gene_variant MELA-AU 2 239357838 239357838 single base substitution A G intron_variant MELA-AU 2 239357838 239357838 single base substitution A G upstream_gene_variant MELA-AU 2 239357855 239357855 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239357855 239357855 single base substitution C T downstream_gene_variant MELA-AU 2 239357855 239357855 single base substitution C T intron_variant MELA-AU 2 239357855 239357855 single base substitution C T upstream_gene_variant MELA-AU 2 239358009 239358009 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239358009 239358009 single base substitution C T downstream_gene_variant MELA-AU 2 239358009 239358009 single base substitution C T intron_variant MELA-AU 2 239358009 239358009 single base substitution C T upstream_gene_variant MELA-AU 2 239358010 239358010 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239358010 239358010 single base substitution C T downstream_gene_variant MELA-AU 2 239358010 239358010 single base substitution C T intron_variant MELA-AU 2 239358010 239358010 single base substitution C T upstream_gene_variant MELA-AU 2 239358115 239358115 single base substitution C G 3_prime_UTR_variant MELA-AU 2 239358115 239358115 single base substitution C G downstream_gene_variant MELA-AU 2 239358115 239358115 single base substitution C G intron_variant MELA-AU 2 239358115 239358115 single base substitution C G upstream_gene_variant MELA-AU 2 239358361 239358361 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239358361 239358361 single base substitution C T downstream_gene_variant MELA-AU 2 239358361 239358361 single base substitution C T intron_variant MELA-AU 2 239358361 239358361 single base substitution C T upstream_gene_variant MELA-AU 2 239358561 239358561 single base substitution G A 3_prime_UTR_variant MELA-AU 2 239358561 239358561 single base substitution G A downstream_gene_variant MELA-AU 2 239358561 239358561 single base substitution G A intron_variant MELA-AU 2 239358561 239358561 single base substitution G A upstream_gene_variant MELA-AU 2 239359552 239359552 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239359552 239359552 single base substitution C T downstream_gene_variant MELA-AU 2 239359552 239359552 single base substitution C T intron_variant MELA-AU 2 239359605 239359605 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239359605 239359605 single base substitution C T downstream_gene_variant MELA-AU 2 239359605 239359605 single base substitution C T intron_variant MELA-AU 2 239359797 239359797 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239359797 239359797 single base substitution C T downstream_gene_variant MELA-AU 2 239359797 239359797 single base substitution C T intron_variant MELA-AU 2 239360392 239360392 single base substitution A T 3_prime_UTR_variant MELA-AU 2 239360392 239360392 single base substitution A T intron_variant MELA-AU 2 239360615 239360615 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239360615 239360615 single base substitution C T exon_variant MELA-AU 2 239360673 239360673 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239360673 239360673 single base substitution C T exon_variant MELA-AU 2 239360720 239360720 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239360720 239360720 single base substitution C T exon_variant MELA-AU 2 239360782 239360782 single base substitution C T 3_prime_UTR_variant MELA-AU 2 239360782 239360782 single base substitution C T exon_variant MELA-AU 2 239360924 239360924 single base substitution C T downstream_gene_variant MELA-AU 2 239362101 239362101 single base substitution C T downstream_gene_variant MELA-AU 2 239362333 239362333 single base substitution C T downstream_gene_variant MELA-AU 2 239362368 239362368 single base substitution G T downstream_gene_variant MELA-AU 2 239362370 239362370 single base substitution G A downstream_gene_variant MELA-AU 2 239363212 239363212 single base substitution C G downstream_gene_variant MELA-AU 2 239363243 239363243 single base substitution T G downstream_gene_variant MELA-AU 2 239363610 239363610 single base substitution C T downstream_gene_variant MELA-AU 2 239363654 239363654 single base substitution C T downstream_gene_variant MELA-AU 2 239363743 239363743 single base substitution C T downstream_gene_variant MELA-AU 2 239364158 239364158 single base substitution C A downstream_gene_variant MELA-AU 2 239364342 239364342 single base substitution C T downstream_gene_variant MELA-AU 2 239364562 239364563 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 239364811 239364811 single base substitution C T downstream_gene_variant MELA-AU 2 239365032 239365032 single base substitution A G downstream_gene_variant MELA-AU 2 239365182 239365182 single base substitution C T downstream_gene_variant MELA-AU 2 239365287 239365287 single base substitution C T downstream_gene_variant MELA-AU 2 239365344 239365344 single base substitution T C downstream_gene_variant MELA-AU 2 239365593 239365593 single base substitution G A downstream_gene_variant MELA-AU 2 239365637 239365637 single base substitution C T downstream_gene_variant ORCA-IN 2 239344602 239344602 single base substitution G T 3_prime_UTR_variant ORCA-IN 2 239344602 239344602 single base substitution G T downstream_gene_variant ORCA-IN 2 239344602 239344602 single base substitution G T exon_variant ORCA-IN 2 239344602 239344602 single base substitution G T intron_variant ORCA-IN 2 239344602 239344602 single base substitution G T missense_variant V148F 442G>T OV-AU 2 239344041 239344041 single base substitution C A intron_variant OV-AU 2 239344118 239344118 single base substitution C A intron_variant OV-AU 2 239344615 239344615 single base substitution C G 3_prime_UTR_variant OV-AU 2 239344615 239344615 single base substitution C G downstream_gene_variant OV-AU 2 239344615 239344615 single base substitution C G exon_variant OV-AU 2 239344615 239344615 single base substitution C G intron_variant OV-AU 2 239344615 239344615 single base substitution C G missense_variant S152C 455C>G OV-AU 2 239344897 239344897 single base substitution C G downstream_gene_variant OV-AU 2 239344897 239344897 single base substitution C G intron_variant OV-AU 2 239345073 239345073 single base substitution C G downstream_gene_variant OV-AU 2 239345073 239345073 single base substitution C G intron_variant OV-AU 2 239345263 239345263 single base substitution C G downstream_gene_variant OV-AU 2 239345263 239345263 single base substitution C G intron_variant OV-AU 2 239356672 239356672 single base substitution G A 3_prime_UTR_variant OV-AU 2 239356672 239356672 single base substitution G A downstream_gene_variant OV-AU 2 239356672 239356672 single base substitution G A intron_variant OV-AU 2 239356672 239356672 single base substitution G A upstream_gene_variant OV-AU 2 239359667 239359667 single base substitution T C 3_prime_UTR_variant OV-AU 2 239359667 239359667 single base substitution T C downstream_gene_variant OV-AU 2 239359667 239359667 single base substitution T C intron_variant PACA-AU 2 239331550 239331550 single base substitution T G upstream_gene_variant PACA-AU 2 239332211 239332211 single base substitution G C upstream_gene_variant PACA-AU 2 239344262 239344262 single base substitution C T intron_variant PACA-AU 2 239349525 239349525 single base substitution A G intron_variant PACA-AU 2 239349526 239349526 single base substitution G T intron_variant PACA-AU 2 239349612 239349612 single base substitution G A intron_variant PACA-AU 2 239353084 239353084 single base substitution G T 3_prime_UTR_variant PACA-AU 2 239353084 239353084 single base substitution G T downstream_gene_variant PACA-AU 2 239353084 239353084 single base substitution G T exon_variant PACA-AU 2 239353084 239353084 single base substitution G T missense_variant S199I 596G>T PACA-AU 2 239353084 239353084 single base substitution G T missense_variant S98I 293G>T PACA-AU 2 239353084 239353084 single base substitution G T upstream_gene_variant PACA-AU 2 239356592 239356592 single base substitution C G 3_prime_UTR_variant PACA-AU 2 239356592 239356592 single base substitution C G downstream_gene_variant PACA-AU 2 239356592 239356592 single base substitution C G intron_variant PACA-AU 2 239356592 239356592 single base substitution C G upstream_gene_variant PACA-AU 2 239358699 239358699 single base substitution A G 3_prime_UTR_variant PACA-AU 2 239358699 239358699 single base substitution A G downstream_gene_variant PACA-AU 2 239358699 239358699 single base substitution A G intron_variant PACA-AU 2 239358699 239358699 single base substitution A G upstream_gene_variant PACA-AU 2 239362630 239362630 single base substitution C G downstream_gene_variant PACA-CA 2 239338368 239338368 single base substitution T A intron_variant PACA-CA 2 239338368 239338368 single base substitution T A upstream_gene_variant PACA-CA 2 239346201 239346201 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 239346201 239346201 insertion of <=200bp - T intron_variant PACA-CA 2 239347806 239347806 single base substitution A G downstream_gene_variant PACA-CA 2 239347806 239347806 single base substitution A G intron_variant PACA-CA 2 239349599 239349599 single base substitution C T intron_variant PACA-CA 2 239350322 239350322 single base substitution C T intron_variant PACA-CA 2 239350322 239350322 single base substitution C T upstream_gene_variant PACA-CA 2 239350710 239350710 single base substitution T C intron_variant PACA-CA 2 239350710 239350710 single base substitution T C upstream_gene_variant PACA-CA 2 239355106 239355106 single base substitution C T 3_prime_UTR_variant PACA-CA 2 239355106 239355106 single base substitution C T downstream_gene_variant PACA-CA 2 239355106 239355106 single base substitution C T exon_variant PACA-CA 2 239355106 239355106 single base substitution C T missense_variant S220L 659C>T PACA-CA 2 239355106 239355106 single base substitution C T missense_variant S321L 962C>T PACA-CA 2 239355106 239355106 single base substitution C T upstream_gene_variant PACA-CA 2 239358795 239358795 single base substitution T G 3_prime_UTR_variant PACA-CA 2 239358795 239358795 single base substitution T G downstream_gene_variant PACA-CA 2 239358795 239358795 single base substitution T G exon_variant PACA-CA 2 239358795 239358795 single base substitution T G intron_variant PACA-CA 2 239359823 239359823 single base substitution T C 3_prime_UTR_variant PACA-CA 2 239359823 239359823 single base substitution T C downstream_gene_variant PACA-CA 2 239359823 239359823 single base substitution T C intron_variant PACA-CA 2 239362030 239362030 single base substitution C T downstream_gene_variant PACA-CA 2 239363646 239363646 single base substitution G C downstream_gene_variant PAEN-AU 2 239331108 239331108 single base substitution T G upstream_gene_variant PAEN-IT 2 239337931 239337931 single base substitution G T intron_variant PAEN-IT 2 239337931 239337931 single base substitution G T upstream_gene_variant PAEN-IT 2 239353719 239353719 single base substitution C A downstream_gene_variant PAEN-IT 2 239353719 239353719 single base substitution C A intron_variant PAEN-IT 2 239353719 239353719 single base substitution C A upstream_gene_variant PAEN-IT 2 239354312 239354312 single base substitution G T downstream_gene_variant PAEN-IT 2 239354312 239354312 single base substitution G T intron_variant PAEN-IT 2 239354312 239354312 single base substitution G T upstream_gene_variant PAEN-IT 2 239357521 239357521 single base substitution A G 3_prime_UTR_variant PAEN-IT 2 239357521 239357521 single base substitution A G downstream_gene_variant PAEN-IT 2 239357521 239357521 single base substitution A G intron_variant PAEN-IT 2 239357521 239357521 single base substitution A G upstream_gene_variant PBCA-DE 2 239334795 239334795 single base substitution A G upstream_gene_variant PBCA-DE 2 239337926 239337926 single base substitution G A intron_variant PBCA-DE 2 239337926 239337926 single base substitution G A upstream_gene_variant PBCA-DE 2 239347933 239347933 single base substitution G A downstream_gene_variant PBCA-DE 2 239347933 239347933 single base substitution G A intron_variant PBCA-DE 2 239351654 239351654 single base substitution T G intron_variant PBCA-DE 2 239351654 239351654 single base substitution T G upstream_gene_variant PBCA-DE 2 239359671 239359671 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 239359671 239359671 single base substitution C T downstream_gene_variant PBCA-DE 2 239359671 239359671 single base substitution C T intron_variant PRAD-CA 2 239330774 239330774 single base substitution C T upstream_gene_variant PRAD-CA 2 239348358 239348358 single base substitution C G downstream_gene_variant PRAD-CA 2 239348358 239348358 single base substitution C G intron_variant PRAD-UK 2 239336793 239336793 single base substitution A T intron_variant PRAD-UK 2 239338503 239338503 single base substitution C T intron_variant PRAD-UK 2 239338503 239338503 single base substitution C T upstream_gene_variant PRAD-UK 2 239357498 239357498 single base substitution G A 3_prime_UTR_variant PRAD-UK 2 239357498 239357498 single base substitution G A downstream_gene_variant PRAD-UK 2 239357498 239357498 single base substitution G A intron_variant PRAD-UK 2 239357498 239357498 single base substitution G A upstream_gene_variant PRAD-US 2 239344476 239344476 single base substitution C G exon_variant PRAD-US 2 239344476 239344476 single base substitution C G intron_variant PRAD-US 2 239344476 239344476 single base substitution C G missense_variant L106V 316C>G PRAD-US 2 239353281 239353281 single base substitution C T 3_prime_UTR_variant PRAD-US 2 239353281 239353281 single base substitution C T downstream_gene_variant PRAD-US 2 239353281 239353281 single base substitution C T exon_variant PRAD-US 2 239353281 239353281 single base substitution C T synonymous_variant L164L 490C>T PRAD-US 2 239353281 239353281 single base substitution C T synonymous_variant L265L 793C>T PRAD-US 2 239353281 239353281 single base substitution C T upstream_gene_variant READ-US 2 239353021 239353021 single base substitution C A 3_prime_UTR_variant READ-US 2 239353021 239353021 single base substitution C A downstream_gene_variant READ-US 2 239353021 239353021 single base substitution C A exon_variant READ-US 2 239353021 239353021 single base substitution C A missense_variant P178H 533C>A READ-US 2 239353021 239353021 single base substitution C A missense_variant P77H 230C>A READ-US 2 239353021 239353021 single base substitution C A upstream_gene_variant RECA-EU 2 239332396 239332396 single base substitution C T upstream_gene_variant RECA-EU 2 239340607 239340607 single base substitution T A intron_variant RECA-EU 2 239340607 239340607 single base substitution T A upstream_gene_variant RECA-EU 2 239340608 239340608 single base substitution C T intron_variant RECA-EU 2 239340608 239340608 single base substitution C T upstream_gene_variant RECA-EU 2 239343728 239343728 single base substitution G T intron_variant RECA-EU 2 239343728 239343728 single base substitution G T upstream_gene_variant RECA-EU 2 239344110 239344110 single base substitution G A intron_variant RECA-EU 2 239347083 239347083 single base substitution C T downstream_gene_variant RECA-EU 2 239347083 239347083 single base substitution C T intron_variant RECA-EU 2 239355873 239355873 single base substitution G A 3_prime_UTR_variant RECA-EU 2 239355873 239355873 single base substitution G A downstream_gene_variant RECA-EU 2 239355873 239355873 single base substitution G A intron_variant RECA-EU 2 239355873 239355873 single base substitution G A upstream_gene_variant SKCA-BR 2 239330707 239330707 single base substitution T C upstream_gene_variant SKCA-BR 2 239334652 239334652 single base substitution A C upstream_gene_variant SKCA-BR 2 239335445 239335445 single base substitution C T exon_variant SKCA-BR 2 239335445 239335445 single base substitution C T upstream_gene_variant SKCA-BR 2 239337985 239337985 single base substitution A G intron_variant SKCA-BR 2 239337985 239337985 single base substitution A G upstream_gene_variant SKCA-BR 2 239339448 239339448 single base substitution C T intron_variant SKCA-BR 2 239339448 239339448 single base substitution C T upstream_gene_variant SKCA-BR 2 239339651 239339651 single base substitution C T intron_variant SKCA-BR 2 239339651 239339651 single base substitution C T upstream_gene_variant SKCA-BR 2 239340052 239340052 single base substitution T G intron_variant SKCA-BR 2 239340052 239340052 single base substitution T G upstream_gene_variant SKCA-BR 2 239340958 239340958 single base substitution C T intron_variant SKCA-BR 2 239340958 239340958 single base substitution C T upstream_gene_variant SKCA-BR 2 239346102 239346102 single base substitution A C downstream_gene_variant SKCA-BR 2 239346102 239346102 single base substitution A C intron_variant SKCA-BR 2 239348889 239348889 single base substitution G A downstream_gene_variant SKCA-BR 2 239348889 239348889 single base substitution G A intron_variant SKCA-BR 2 239349778 239349779 deletion of <=200bp AT - intron_variant SKCA-BR 2 239350762 239350765 deletion of <=200bp ATTT - intron_variant SKCA-BR 2 239350762 239350765 deletion of <=200bp ATTT - upstream_gene_variant SKCA-BR 2 239353620 239353620 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 2 239353620 239353620 insertion of <=200bp - CT intron_variant SKCA-BR 2 239353620 239353620 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 239354748 239354748 single base substitution C T downstream_gene_variant SKCA-BR 2 239354748 239354748 single base substitution C T intron_variant SKCA-BR 2 239354748 239354748 single base substitution C T upstream_gene_variant SKCA-BR 2 239359257 239359257 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 239359257 239359257 single base substitution C T downstream_gene_variant SKCA-BR 2 239359257 239359257 single base substitution C T intron_variant SKCA-BR 2 239359606 239359606 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 239359606 239359606 single base substitution C T downstream_gene_variant SKCA-BR 2 239359606 239359606 single base substitution C T intron_variant SKCA-BR 2 239360230 239360230 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 239360230 239360230 single base substitution C T downstream_gene_variant SKCA-BR 2 239360230 239360230 single base substitution C T intron_variant SKCA-BR 2 239364036 239364036 single base substitution C T downstream_gene_variant SKCA-BR 2 239364083 239364083 single base substitution C T downstream_gene_variant SKCM-US 2 239342322 239342322 single base substitution G A exon_variant SKCM-US 2 239342322 239342322 single base substitution G A intron_variant SKCM-US 2 239342322 239342322 single base substitution G A synonymous_variant E59E 177G>A SKCM-US 2 239342322 239342322 single base substitution G A upstream_gene_variant SKCM-US 2 239344455 239344455 single base substitution C T exon_variant SKCM-US 2 239344455 239344455 single base substitution C T intron_variant SKCM-US 2 239344455 239344455 single base substitution C T missense_variant R99W 295C>T SKCM-US 2 239353082 239353082 single base substitution C T 3_prime_UTR_variant SKCM-US 2 239353082 239353082 single base substitution C T downstream_gene_variant SKCM-US 2 239353082 239353082 single base substitution C T exon_variant SKCM-US 2 239353082 239353082 single base substitution C T synonymous_variant I198I 594C>T SKCM-US 2 239353082 239353082 single base substitution C T synonymous_variant I97I 291C>T SKCM-US 2 239353082 239353082 single base substitution C T upstream_gene_variant SKCM-US 2 239353336 239353336 single base substitution C T 3_prime_UTR_variant SKCM-US 2 239353336 239353336 single base substitution C T downstream_gene_variant SKCM-US 2 239353336 239353336 single base substitution C T exon_variant SKCM-US 2 239353336 239353336 single base substitution C T missense_variant P182L 545C>T SKCM-US 2 239353336 239353336 single base substitution C T missense_variant P283L 848C>T SKCM-US 2 239353336 239353336 single base substitution C T upstream_gene_variant STAD-US 2 239344354 239344354 single base substitution G A intron_variant STAD-US 2 239344354 239344354 single base substitution G A missense_variant R65H 194G>A STAD-US 2 239344354 239344354 single base substitution G A splice_region_variant STAD-US 2 239344627 239344627 single base substitution G A 3_prime_UTR_variant STAD-US 2 239344627 239344627 single base substitution G A downstream_gene_variant STAD-US 2 239344627 239344627 single base substitution G A exon_variant STAD-US 2 239344627 239344627 single base substitution G A intron_variant STAD-US 2 239344627 239344627 single base substitution G A missense_variant R156Q 467G>A STAD-US 2 239344628 239344628 single base substitution G T 3_prime_UTR_variant STAD-US 2 239344628 239344628 single base substitution G T downstream_gene_variant STAD-US 2 239344628 239344628 single base substitution G T exon_variant STAD-US 2 239344628 239344628 single base substitution G T intron_variant STAD-US 2 239344628 239344628 single base substitution G T synonymous_variant R156R 468G>T STAD-US 2 239353002 239353002 single base substitution G A 3_prime_UTR_variant STAD-US 2 239353002 239353002 single base substitution G A exon_variant STAD-US 2 239353002 239353002 single base substitution G A missense_variant V172I 514G>A STAD-US 2 239353002 239353002 single base substitution G A missense_variant V71I 211G>A STAD-US 2 239353002 239353002 single base substitution G A upstream_gene_variant STAD-US 2 239353036 239353036 single base substitution G T 3_prime_UTR_variant STAD-US 2 239353036 239353036 single base substitution G T downstream_gene_variant STAD-US 2 239353036 239353036 single base substitution G T exon_variant STAD-US 2 239353036 239353036 single base substitution G T missense_variant R183L 548G>T STAD-US 2 239353036 239353036 single base substitution G T missense_variant R82L 245G>T STAD-US 2 239353036 239353036 single base substitution G T upstream_gene_variant THCA-SA 2 239355454 239355454 single base substitution C T 3_prime_UTR_variant THCA-SA 2 239355454 239355454 single base substitution C T downstream_gene_variant THCA-SA 2 239355454 239355454 single base substitution C T intron_variant THCA-SA 2 239355454 239355454 single base substitution C T upstream_gene_variant THCA-SA 2 239355995 239355995 single base substitution C G 3_prime_UTR_variant THCA-SA 2 239355995 239355995 single base substitution C G downstream_gene_variant THCA-SA 2 239355995 239355995 single base substitution C G intron_variant THCA-SA 2 239355995 239355995 single base substitution C G upstream_gene_variant THCA-SA 2 239356977 239356977 single base substitution C G 3_prime_UTR_variant THCA-SA 2 239356977 239356977 single base substitution C G downstream_gene_variant THCA-SA 2 239356977 239356977 single base substitution C G intron_variant THCA-SA 2 239356977 239356977 single base substitution C G upstream_gene_variant THCA-SA 2 239358341 239358341 single base substitution T C 3_prime_UTR_variant THCA-SA 2 239358341 239358341 single base substitution T C downstream_gene_variant THCA-SA 2 239358341 239358341 single base substitution T C intron_variant THCA-SA 2 239358341 239358341 single base substitution T C upstream_gene_variant UCEC-US 2 239344467 239344467 single base substitution G A exon_variant UCEC-US 2 239344467 239344467 single base substitution G A intron_variant UCEC-US 2 239344467 239344467 single base substitution G A missense_variant E103K 307G>A UCEC-US 2 239353086 239353086 single base substitution G A 3_prime_UTR_variant UCEC-US 2 239353086 239353086 single base substitution G A downstream_gene_variant UCEC-US 2 239353086 239353086 single base substitution G A exon_variant UCEC-US 2 239353086 239353086 single base substitution G A missense_variant A200T 598G>A UCEC-US 2 239353086 239353086 single base substitution G A missense_variant A99T 295G>A UCEC-US 2 239353086 239353086 single base substitution G A upstream_gene_variant UCEC-US 2 239353134 239353134 single base substitution G A 3_prime_UTR_variant UCEC-US 2 239353134 239353134 single base substitution G A downstream_gene_variant UCEC-US 2 239353134 239353134 single base substitution G A exon_variant UCEC-US 2 239353134 239353134 single base substitution G A missense_variant A115T 343G>A UCEC-US 2 239353134 239353134 single base substitution G A missense_variant A216T 646G>A UCEC-US 2 239353134 239353134 single base substitution G A upstream_gene_variant UCEC-US 2 239353170 239353170 single base substitution A G 3_prime_UTR_variant UCEC-US 2 239353170 239353170 single base substitution A G downstream_gene_variant UCEC-US 2 239353170 239353170 single base substitution A G exon_variant UCEC-US 2 239353170 239353170 single base substitution A G missense_variant T127A 379A>G UCEC-US 2 239353170 239353170 single base substitution A G missense_variant T228A 682A>G UCEC-US 2 239353170 239353170 single base substitution A G upstream_gene_variant UCEC-US 2 239353216 239353216 single base substitution T C 3_prime_UTR_variant UCEC-US 2 239353216 239353216 single base substitution T C downstream_gene_variant UCEC-US 2 239353216 239353216 single base substitution T C exon_variant UCEC-US 2 239353216 239353216 single base substitution T C missense_variant V142A 425T>C UCEC-US 2 239353216 239353216 single base substitution T C missense_variant V243A 728T>C UCEC-US 2 239353216 239353216 single base substitution T C upstream_gene_variant UCEC-US 2 239355131 239355131 single base substitution G T 3_prime_UTR_variant UCEC-US 2 239355131 239355131 single base substitution G T downstream_gene_variant UCEC-US 2 239355131 239355131 single base substitution G T exon_variant UCEC-US 2 239355131 239355131 single base substitution G T missense_variant K228N 684G>T UCEC-US 2 239355131 239355131 single base substitution G T missense_variant K329N 987G>T UCEC-US 2 239355131 239355131 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11E-01 COSM1018595 c.646G>A p.A216T Substitution - Missense 2:238444493-238444493 + TCGA-BS-A0UV-01 COSM1018594 c.307G>A p.E103K Substitution - Missense 2:238435826-238435826 + TCGA-DU-6405-01 COSM3972135 c.477C>A p.I159I Substitution - coding silent 2:238435996-238435996 + STC297 COSM5058778 c.767T>G p.L256R Substitution - Missense 2:238444614-238444614 + Gp2D COSM2909049 c.136T>A p.Y46N Substitution - Missense 2:238433640-238433640 + 1_PRE-TREATMENT COSM1718099 c.193C>T p.R65C Substitution - Missense 2:238435712-238435712 + TCGA-AP-A059-01 COSM1018597 c.728T>C p.V243A Substitution - Missense 2:238444575-238444575 + TCGA-66-2800-01 COSM720957 c.330A>C p.K110N Substitution - Missense 2:238435849-238435849 + 68 COSM5015978 c.837delA p.V281fs*27 Deletion - Frameshift 2:238444684-238444684 + 61 COSM5736473 c.464G>A p.G155D Substitution - Missense 2:238435983-238435983 + BD72T COSM5511854 c.191+10G>A p.? Unknown 2:238433705-238433705 + TCGA-BR-8363-01 COSM4092769 c.467G>A p.R156Q Substitution - Missense 2:238435986-238435986 + 8030150 COSM3391614 c.596G>T p.S199I Substitution - Missense 2:238444443-238444443 + TCGA-EI-6507-01 COSM1565648 c.533C>A p.P178H Substitution - Missense 2:238444380-238444380 + B34-Tumor COSM1752460 c.815G>A p.G272D Substitution - Missense 2:238444662-238444662 + TCGA-D5-6540-01 COSM1406741 c.296G>A p.R99Q Substitution - Missense 2:238435815-238435815 + T24 COSM4416148 c.513C>T p.D171D Substitution - coding silent 2:238444360-238444360 + TCGA-A8-A093-01 COSM442595 c.660C>T p.F220F Substitution - coding silent 2:238444507-238444507 + TCGA-D8-A147-01 COSM442596 c.737A>C p.H246P Substitution - Missense 2:238444584-238444584 + BD57T COSM5509892 c.354T>C p.A118A Substitution - coding silent 2:238435873-238435873 + TCGA-ER-A19P-06 COSM3579787 c.848C>T p.P283L Substitution - Missense 2:238444695-238444695 + T3021 COSM4663601 c.394G>A p.E132K Substitution - Missense 2:238435913-238435913 + 578 COSM3720879 c.314A>G p.D105G Substitution - Missense 2:238435833-238435833 + CSCC-27-T COSM4511967 c.887C>T p.P296L Substitution - Missense 2:238446390-238446390 + Pat_41_B COSM5862138 c.769G>A p.V257I Substitution - Missense 2:238444616-238444616 + TCGA-EE-A29L-06 COSM3579784 c.177G>A p.E59E Substitution - coding silent 2:238433681-238433681 + B34 COSM1752460 c.815G>A p.G272D Substitution - Missense 2:238444662-238444662 + Gp5D COSM2909049 c.136T>A p.Y46N Substitution - Missense 2:238433640-238433640 + TCGA-BQ-5881-01 COSM3991178 c.194G>A p.R65H Substitution - Missense 2:238435713-238435713 + TCGA-AP-A059-01 COSM210572 c.598G>A p.A200T Substitution - Missense 2:238444445-238444445 + LC_S39 COSM1186173 c.689G>A p.G230E Substitution - Missense 2:238444536-238444536 + TCGA-AD-6895-01 COSM1406742 c.936C>T p.G312G Substitution - coding silent 2:238446439-238446439 + S02287 COSM5685670 c.940C>A p.H314N Substitution - Missense 2:238446443-238446443 + TCGA-B0-5712-01 COSM1494862 c.810G>A p.S270S Substitution - coding silent 2:238444657-238444657 + LUAD_E00522 COSM353119 c.339G>T p.T113T Substitution - coding silent 2:238435858-238435858 + PTC-28C COSM442594 c.252C>T p.I84I Substitution - coding silent 2:238435771-238435771 + LUAD-RT-S01702 COSM379249 c.253G>A p.A85T Substitution - Missense 2:238435772-238435772 + TCGA-AM-5821-01 COSM442594 c.252C>T p.I84I Substitution - coding silent 2:238435771-238435771 + TCGA-BR-8368-01 COSM4092771 c.514G>A p.V172I Substitution - Missense 2:238444361-238444361 + 03-P1004 COSM4583357 c.283G>C p.D95H Substitution - Missense 2:238435802-238435802 + TCGA-AA-3527-01 COSM291787 c.155C>T p.T52I Substitution - Missense 2:238433659-238433659 + Pat_06_B COSM5862137 c.91C>G p.H31D Substitution - Missense 2:238433595-238433595 + HCC019T COSM5820307 c.357G>T p.V119V Substitution - coding silent 2:238435876-238435876 + TCGA-AX-A05Z-01 COSM1018596 c.682A>G p.T228A Substitution - Missense 2:238444529-238444529 + T1772 COSM4663600 c.141C>T p.V47V Substitution - coding silent 2:238433645-238433645 + 2492730 COSM5729403 c.607C>T p.H203Y Substitution - Missense 2:238444454-238444454 + TCGA-G9-6373-01 COSM3783416 c.316C>G p.L106V Substitution - Missense 2:238435835-238435835 + TCGA-BP-5168-01 COSM477157 c.566C>T p.T189I Substitution - Missense 2:238444413-238444413 + C086 COSM5526998 c.388C>T p.L130F Substitution - Missense 2:238435907-238435907 + TCGA-KK-A6E0-01 COSM4876832 c.793C>T p.L265L Substitution - coding silent 2:238444640-238444640 + TCGA-CG-5726-01 COSM3991178 c.194G>A p.R65H Substitution - Missense 2:238435713-238435713 + 46M COSM5587215 c.552C>T p.F184F Substitution - coding silent 2:238444399-238444399 + TCGA-EB-A431-01 COSM3579786 c.594C>T p.I198I Substitution - coding silent 2:238444441-238444441 + SNUH_G73_S1 COSM4416148 c.513C>T p.D171D Substitution - coding silent 2:238444360-238444360 + HCC087T COSM5818247 c.989A>T p.K330M Substitution - Missense 2:238446492-238446492 + OSCC-GB_00670111 COSM4883818 c.442G>T p.V148F Substitution - Missense 2:238435961-238435961 + PD4968a COSM5768555 c.911G>A p.R304H Substitution - Missense 2:238446414-238446414 + T2269 COSM4663602 c.989A>C p.K330T Substitution - Missense 2:238446492-238446492 + 3206A7_009_T COSM5039455 c.853G>A p.A285T Substitution - Missense 2:238444700-238444700 + 3206A7_009_T COSM5041470 c.209C>G p.S70C Substitution - Missense 2:238435728-238435728 + TCGA-D8-A1XK-01 COSM3839022 c.788T>C p.L263P Substitution - Missense 2:238444635-238444635 + LS411 COSM2909058 c.714C>T p.C238C Substitution - coding silent 2:238444561-238444561 + 585205 COSM318792 c.153G>T p.Q51H Substitution - Missense 2:238433657-238433657 + TCGA-BR-A4QI-01 COSM4092772 c.548G>T p.R183L Substitution - Missense 2:238444395-238444395 + LAU149 COSM234417 c.447C>T p.Y149Y Substitution - coding silent 2:238435966-238435966 + TCGA-AP-A0LM-01 COSM1018598 c.987G>T p.K329N Substitution - Missense 2:238446490-238446490 + AOCS-165-1-X COSM4128242 c.455C>G p.S152C Substitution - Missense 2:238435974-238435974 + PD4119a COSM159212 c.457C>T p.R153C Substitution - Missense 2:238435976-238435976 + TCGA-FS-A1Z0-06 COSM3579785 c.295C>T p.R99W Substitution - Missense 2:238435814-238435814 + TCGA-D7-A4YT-01 COSM4092770 c.468G>T p.R156R Substitution - coding silent 2:238435987-238435987 + TCGA-BC-A216-01 COSM4911437 c.546T>C p.P182P Substitution - coding silent 2:238444393-238444393 + CSCC-31-T COSM4512200 c.894C>T p.T298T Substitution - coding silent 2:238446397-238446397 + TCGA-BT-A3PJ-01 COSM3798806 c.678C>T p.V226V Substitution - coding silent 2:238444525-238444525 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.516784;Hs.516786;Hs.516788 2q37 605758 2468045|CGAP|BC014528|C/T|coding|Thr87Ile|345|Candidate; 1513903|dbSNP|BC014528|A/C|non-coding||1259|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H246P c.737A>C 2 239353225 BRCA A C Missense p.K110N c.330A>C 2 239344490 LUSC A G 3-UTRSNV . c.1005+5069A>G 2 239360218 HC A G Missense p.D105G c.314A>G 2 239344474 HNSC C T Missense p.P283L c.848C>T 2 239353336 CM C T Missense p.R153C c.457C>T 2 239344617 BRCA C T Missense p.R99W c.295C>T 2 239344455 CM C T Missense p.T189I c.566C>T 2 239353054 RCCC C T Missense p.T52I c.155C>T 2 239342300 COREAD C T Synonymous p.F220F c.660C>T 2 239353148 BRCA C T Synonymous p.L265L c.793C>T 2 239353281 PRAD C T Synonymous p.L77L c.231C>T 2 239344391 HNSC C T Synonymous p.V226V c.678C>T 2 239353166 BLCA G A Missense p.R65H c.194G>A 2 239344354 STAD G A Missense p.S61N c.182G>A 2 239342327 CM G A Synonymous p.E59E c.177G>A 2 239342322 CM G A Synonymous p.S321S c.963G>A 2 239355107 COREAD G A Synonymous p.T39T c.117G>A 2 239342262 HNSC G T Missense p.Q51H c.153G>T 2 239342298 SCLC G T Missense p.R186L c.557G>T 2 239353045 STAD T A 3-UTRSNV . c.1005+5074T>A 2 239360223 HC