Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 13246265 13246265 + Missense_Mutation SNP C C G TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr19:13246265C>G c.244C>G c.(244-246)Ctc>Gtc p.L82V ACC 19 13246606 13246606 + Silent SNP C C T TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr19:13246606C>T c.585C>T c.(583-585)ggC>ggT p.G195G BLCA 19 13246039 13246039 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr19:13246039G>C c.18G>C c.(16-18)caG>caC p.Q6H BLCA 19 13246121 13246121 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr19:13246121G>A c.100G>A c.(100-102)Gtg>Atg p.V34M BLCA 19 13246210 13246229 + Frame_Shift_Del DEL CAGCGCCGTGGTGGAGCTGC CAGCGCCGTGGTGGAGCTGC - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr19:13246210_13246229delCAGCGCCGTGGTGGAGCTGC c.189_208delCAGCGCCGTGGTGGAGCTGC c.(187-210)cgcagcgccgtggtggagctgccgfs p.SAVVELP64fs BLCA 19 13246324 13246324 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr19:13246324G>A c.303G>A c.(301-303)atG>atA p.M101I BLCA 19 13246329 13246329 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 g.chr19:13246329C>T c.308C>T c.(307-309)aCg>aTg p.T103M BLCA 19 13246852 13246852 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:13246852C>T c.831C>T c.(829-831)tcC>tcT p.S277S BLCA 19 13247179 13247179 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr19:13247179C>T c.1080C>T c.(1078-1080)taC>taT p.Y360Y BLCA 19 13248163 13248163 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr19:13248163G>A c.1199G>A c.(1198-1200)cGg>cAg p.R400Q BLCA 19 13249004 13249004 + Missense_Mutation SNP G G A TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr19:13249004G>A c.1368G>A c.(1366-1368)atG>atA p.M456I BLCA 19 13249074 13249074 + Missense_Mutation SNP A A G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr19:13249074A>G c.1438A>G c.(1438-1440)Aag>Gag p.K480E BRCA 19 13246395 13246395 + Frame_Shift_Del DEL C C - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 g.chr19:13246395delC c.374delC c.(373-375)tccfs p.S125fs BRCA 19 13247176 13247176 + Silent SNP C C G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 g.chr19:13247176C>G c.1077C>G c.(1075-1077)ctC>ctG p.L359L BRCA 19 13248140 13248140 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 g.chr19:13248140C>T c.1176C>T c.(1174-1176)ggC>ggT p.G392G CESC 19 13246773 13246773 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr19:13246773G>A c.752G>A c.(751-753)gGt>gAt p.G251D CESC 19 13248327 13248327 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr19:13248327G>A c.1262G>A c.(1261-1263)cGc>cAc p.R421H COAD 19 13246092 13246092 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:13246092G>A c.71G>A c.(70-72)cGg>cAg p.R24Q COAD 19 13246155 13246155 + Missense_Mutation SNP G G A TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr19:13246155G>A c.134G>A c.(133-135)cGg>cAg p.R45Q COAD 19 13246286 13246286 + Missense_Mutation SNP C C T TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr19:13246286C>T c.265C>T c.(265-267)Cgg>Tgg p.R89W COAD 19 13246460 13246460 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr19:13246460G>A c.439G>A c.(439-441)Gtg>Atg p.V147M COAD 19 13247156 13247156 + Missense_Mutation SNP A A C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:13247156A>C c.1057A>C c.(1057-1059)Aac>Cac p.N353H COAD 19 13248189 13248189 + Splice_Site SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr19:13248189C>T c.1225C>T c.(1225-1227)Cgg>Tgg p.R409W COAD 19 13248341 13248341 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:13248341G>A c.1276G>A c.(1276-1278)Gat>Aat p.D426N COAD 19 13249059 13249059 + Missense_Mutation SNP T T G TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr19:13249059T>G c.1423T>G c.(1423-1425)Tgg>Ggg p.W475G COADREAD 19 13246092 13246092 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:13246092G>A c.71G>A c.(70-72)cGg>cAg p.R24Q COADREAD 19 13246155 13246155 + Missense_Mutation SNP G G A TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr19:13246155G>A c.134G>A c.(133-135)cGg>cAg p.R45Q COADREAD 19 13246286 13246286 + Missense_Mutation SNP C C T TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr19:13246286C>T c.265C>T c.(265-267)Cgg>Tgg p.R89W COADREAD 19 13246330 13246330 + Silent SNP G G A TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr19:13246330G>A c.309G>A c.(307-309)acG>acA p.T103T COADREAD 19 13246460 13246460 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr19:13246460G>A c.439G>A c.(439-441)Gtg>Atg p.V147M COADREAD 19 13247156 13247156 + Missense_Mutation SNP A A C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:13247156A>C c.1057A>C c.(1057-1059)Aac>Cac p.N353H COADREAD 19 13248189 13248189 + Splice_Site SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr19:13248189C>T c.1225C>T c.(1225-1227)Cgg>Tgg p.R409W COADREAD 19 13248341 13248341 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:13248341G>A c.1276G>A c.(1276-1278)Gat>Aat p.D426N COADREAD 19 13249059 13249059 + Missense_Mutation SNP T T G TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr19:13249059T>G c.1423T>G c.(1423-1425)Tgg>Ggg p.W475G ESCA 19 13246434 13246434 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:13246434C>T c.413C>T c.(412-414)gCc>gTc p.A138V GBMLGG 19 13248162 13248162 + Missense_Mutation SNP C C G TCGA-DB-A64V-01A-11D-A29Q-08 TCGA-DB-A64V-10A-01D-A29Q-08 g.chr19:13248162C>G c.1198C>G c.(1198-1200)Cgg>Ggg p.R400G HNSC 19 13246121 13246121 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr19:13246121G>C c.100G>C c.(100-102)Gtg>Ctg p.V34L HNSC 19 13246599 13246599 + Frame_Shift_Del DEL C C - TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr19:13246599delC c.578delC c.(577-579)gctfs p.A193fs HNSC 19 13247186 13247186 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr19:13247186G>T c.1087G>T c.(1087-1089)Ggc>Tgc p.G363C HNSC 19 13247198 13247198 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr19:13247198G>T c.1099G>T c.(1099-1101)Gag>Tag p.E367* HNSC 19 13247207 13247207 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr19:13247207G>C c.1108G>C c.(1108-1110)Gag>Cag p.E370Q KICH 19 13248350 13248350 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr19:13248350C>T c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W KIPAN 19 13248350 13248350 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr19:13248350C>T c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W LGG 19 13248162 13248162 + Missense_Mutation SNP C C G TCGA-DB-A64V-01A-11D-A29Q-08 TCGA-DB-A64V-10A-01D-A29Q-08 g.chr19:13248162C>G c.1198C>G c.(1198-1200)Cgg>Ggg p.R400G LUAD 19 13247140 13247140 + Silent SNP T T C TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr19:13247140T>C c.1041T>C c.(1039-1041)ctT>ctC p.L347L LUAD 19 13249157 13249157 + Missense_Mutation SNP G G T TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chr19:13249157G>T c.1521G>T c.(1519-1521)gaG>gaT p.E507D LUAD 19 13249158 13249158 + Missense_Mutation SNP C C T TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chr19:13249158C>T c.1522C>T c.(1522-1524)Cat>Tat p.H508Y PAAD 19 13246051 13246051 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:13246051G>A c.30G>A c.(28-30)ccG>ccA p.P10P PAAD 19 13246249 13246249 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:13246249G>T c.228G>T c.(226-228)caG>caT p.Q76H PAAD 19 13246954 13246954 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:13246954C>T c.933C>T c.(931-933)aaC>aaT p.N311N PRAD 19 13246945 13246945 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:13246945C>T c.924C>T c.(922-924)agC>agT p.S308S PRAD 19 13249036 13249036 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:13249036C>T c.1400C>T c.(1399-1401)gCc>gTc p.A467V PRAD 19 13249043 13249043 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:13249043C>T c.1407C>T c.(1405-1407)cgC>cgT p.R469R READ 19 13246330 13246330 + Silent SNP G G A TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr19:13246330G>A c.309G>A c.(307-309)acG>acA p.T103T SARC 19 13247128 13247128 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr19:13247128C>T c.1029C>T c.(1027-1029)ctC>ctT p.L343L SKCM 19 13246315 13246315 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr19:13246315C>T c.294C>T c.(292-294)ttC>ttT p.F98F SKCM 19 13246834 13246834 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr19:13246834C>T c.813C>T c.(811-813)acC>acT p.T271T SKCM 19 13247126 13247126 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr19:13247126C>T c.1027C>T c.(1027-1029)Ctc>Ttc p.L343F SKCM 19 13248977 13248977 + Silent SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr19:13248977C>T c.1341C>T c.(1339-1341)ttC>ttT p.F447F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 13226568 13226568 single base substitution C G upstream_gene_variant BLCA-US 19 13246039 13246039 single base substitution G C missense_variant Q6H 18G>C BLCA-US 19 13246039 13246039 single base substitution G C upstream_gene_variant BLCA-US 19 13246852 13246852 single base substitution C T downstream_gene_variant BLCA-US 19 13246852 13246852 single base substitution C T synonymous_variant S277S 831C>T BLCA-US 19 13246852 13246852 single base substitution C T upstream_gene_variant BLCA-US 19 13255242 13255242 single base substitution G C downstream_gene_variant BRCA-EU 19 13224247 13224247 single base substitution A G upstream_gene_variant BRCA-EU 19 13224595 13224595 single base substitution T C upstream_gene_variant BRCA-EU 19 13225168 13225168 single base substitution T A upstream_gene_variant BRCA-EU 19 13225481 13225482 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 19 13226430 13226430 single base substitution C G upstream_gene_variant BRCA-EU 19 13228351 13228351 single base substitution C G upstream_gene_variant BRCA-EU 19 13232731 13232731 single base substitution C G intron_variant BRCA-EU 19 13233978 13233992 deletion of <=200bp GTTAGCGGCACCAGG - intron_variant BRCA-EU 19 13236556 13236556 single base substitution A G intron_variant BRCA-EU 19 13236802 13236802 single base substitution C T intron_variant BRCA-EU 19 13237566 13237566 single base substitution G T intron_variant BRCA-EU 19 13237912 13237912 deletion of <=200bp T - intron_variant BRCA-EU 19 13238975 13238975 deletion of <=200bp C - intron_variant BRCA-EU 19 13240017 13240017 single base substitution T A intron_variant BRCA-EU 19 13241902 13241902 single base substitution G A intron_variant BRCA-EU 19 13242076 13242076 single base substitution G C intron_variant BRCA-EU 19 13245269 13245269 single base substitution C G intron_variant BRCA-EU 19 13245269 13245269 single base substitution C G upstream_gene_variant BRCA-EU 19 13246007 13246007 single base substitution C T intron_variant BRCA-EU 19 13246007 13246007 single base substitution C T splice_region_variant BRCA-EU 19 13246007 13246007 single base substitution C T upstream_gene_variant BRCA-EU 19 13247327 13247327 single base substitution C G downstream_gene_variant BRCA-EU 19 13247327 13247327 single base substitution C G intron_variant BRCA-EU 19 13247327 13247327 single base substitution C G upstream_gene_variant BRCA-EU 19 13250661 13250661 single base substitution T A 3_prime_UTR_variant BRCA-EU 19 13250661 13250661 single base substitution T A downstream_gene_variant BRCA-EU 19 13251793 13251793 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 13251793 13251793 single base substitution G A downstream_gene_variant BRCA-EU 19 13253046 13253046 single base substitution C T downstream_gene_variant BRCA-EU 19 13253935 13253935 single base substitution A G downstream_gene_variant BRCA-EU 19 13254087 13254087 single base substitution C G downstream_gene_variant BRCA-EU 19 13254271 13254271 single base substitution T C downstream_gene_variant BRCA-EU 19 13254394 13254394 single base substitution C G downstream_gene_variant BRCA-EU 19 13255039 13255039 single base substitution C T downstream_gene_variant BRCA-EU 19 13256084 13256084 deletion of <=200bp C - downstream_gene_variant BRCA-EU 19 13256572 13256572 single base substitution G A downstream_gene_variant BRCA-FR 19 13228834 13228834 single base substitution G A upstream_gene_variant BRCA-FR 19 13236802 13236802 single base substitution C T intron_variant BRCA-FR 19 13240017 13240017 single base substitution T A intron_variant BRCA-FR 19 13245269 13245269 single base substitution C G intron_variant BRCA-FR 19 13245269 13245269 single base substitution C G upstream_gene_variant BRCA-FR 19 13246357 13246357 single base substitution C T synonymous_variant I112I 336C>T BRCA-FR 19 13246357 13246357 single base substitution C T upstream_gene_variant BRCA-FR 19 13253935 13253935 single base substitution A G downstream_gene_variant BRCA-UK 19 13241133 13241133 single base substitution C A intron_variant BRCA-UK 19 13253314 13253314 single base substitution C G downstream_gene_variant BRCA-US 19 13246395 13246395 deletion of <=200bp C - frameshift_variant S125 BRCA-US 19 13246395 13246395 deletion of <=200bp C - upstream_gene_variant BRCA-US 19 13247176 13247176 single base substitution C G downstream_gene_variant BRCA-US 19 13247176 13247176 single base substitution C G synonymous_variant L359L 1077C>G BRCA-US 19 13247176 13247176 single base substitution C G upstream_gene_variant BRCA-US 19 13248140 13248140 single base substitution C T downstream_gene_variant BRCA-US 19 13248140 13248140 single base substitution C T intron_variant BRCA-US 19 13248140 13248140 single base substitution C T synonymous_variant G392G 1176C>T BRCA-US 19 13255448 13255448 single base substitution G C downstream_gene_variant BTCA-JP 19 13247067 13247067 single base substitution C T downstream_gene_variant BTCA-JP 19 13247067 13247067 single base substitution C T missense_variant P323L 968C>T BTCA-JP 19 13247067 13247067 single base substitution C T upstream_gene_variant BTCA-JP 19 13247179 13247179 single base substitution C T downstream_gene_variant BTCA-JP 19 13247179 13247179 single base substitution C T synonymous_variant Y360Y 1080C>T BTCA-JP 19 13247179 13247179 single base substitution C T upstream_gene_variant BTCA-JP 19 13248166 13248166 single base substitution G A downstream_gene_variant BTCA-JP 19 13248166 13248166 single base substitution G A intron_variant BTCA-JP 19 13248166 13248166 single base substitution G A missense_variant R401Q 1202G>A BTCA-JP 19 13248192 13248192 single base substitution T A downstream_gene_variant BTCA-JP 19 13248192 13248192 single base substitution T A intron_variant BTCA-JP 19 13248192 13248192 single base substitution T A splice_donor_variant BTCA-JP 19 13248290 13248290 single base substitution A C downstream_gene_variant BTCA-JP 19 13248290 13248290 single base substitution A C intron_variant BTCA-JP 19 13248290 13248290 single base substitution A C splice_acceptor_variant BTCA-JP 19 13248997 13248997 single base substitution G A downstream_gene_variant BTCA-JP 19 13248997 13248997 single base substitution G A missense_variant S21N 62G>A BTCA-JP 19 13248997 13248997 single base substitution G A missense_variant S454N 1361G>A BTCA-JP 19 13249123 13249123 single base substitution C T downstream_gene_variant BTCA-JP 19 13249123 13249123 single base substitution C T missense_variant T496M 1487C>T BTCA-JP 19 13249123 13249123 single base substitution C T missense_variant T63M 188C>T BTCA-JP 19 13255991 13255991 single base substitution C T downstream_gene_variant CESC-US 19 13226520 13226520 single base substitution C G upstream_gene_variant CESC-US 19 13227100 13227100 single base substitution C T upstream_gene_variant CESC-US 19 13227106 13227106 single base substitution C T upstream_gene_variant CESC-US 19 13246773 13246773 single base substitution G A downstream_gene_variant CESC-US 19 13246773 13246773 single base substitution G A missense_variant G251D 752G>A CESC-US 19 13246773 13246773 single base substitution G A upstream_gene_variant CESC-US 19 13248327 13248327 single base substitution G A downstream_gene_variant CESC-US 19 13248327 13248327 single base substitution G A intron_variant CESC-US 19 13248327 13248327 single base substitution G A missense_variant R421H 1262G>A CLLE-ES 19 13242507 13242507 single base substitution G T intron_variant CLLE-ES 19 13244738 13244738 single base substitution A G intron_variant CLLE-ES 19 13244738 13244738 single base substitution A G upstream_gene_variant CLLE-ES 19 13247180 13247180 single base substitution G A downstream_gene_variant CLLE-ES 19 13247180 13247180 single base substitution G A missense_variant D361N 1081G>A CLLE-ES 19 13247180 13247180 single base substitution G A upstream_gene_variant CLLE-ES 19 13255172 13255172 single base substitution T C downstream_gene_variant COAD-US 19 13226229 13226229 single base substitution G A upstream_gene_variant COAD-US 19 13246092 13246092 single base substitution G A missense_variant R24Q 71G>A COAD-US 19 13246092 13246092 single base substitution G A upstream_gene_variant COAD-US 19 13246155 13246155 single base substitution G A missense_variant R45Q 134G>A COAD-US 19 13246155 13246155 single base substitution G A upstream_gene_variant COAD-US 19 13246286 13246286 single base substitution C T missense_variant R89W 265C>T COAD-US 19 13246286 13246286 single base substitution C T upstream_gene_variant COAD-US 19 13248341 13248341 single base substitution G A downstream_gene_variant COAD-US 19 13248341 13248341 single base substitution G A intron_variant COAD-US 19 13248341 13248341 single base substitution G A missense_variant D426N 1276G>A COAD-US 19 13255238 13255238 deletion of <=200bp G - downstream_gene_variant COAD-US 19 13255266 13255266 single base substitution C A downstream_gene_variant COCA-CN 19 13246092 13246092 single base substitution G A missense_variant R24Q 71G>A COCA-CN 19 13246092 13246092 single base substitution G A upstream_gene_variant COCA-CN 19 13246561 13246561 single base substitution C T downstream_gene_variant COCA-CN 19 13246561 13246561 single base substitution C T synonymous_variant P180P 540C>T COCA-CN 19 13246561 13246561 single base substitution C T upstream_gene_variant COCA-CN 19 13248416 13248416 single base substitution C T downstream_gene_variant COCA-CN 19 13248416 13248416 single base substitution C T intron_variant COCA-CN 19 13255984 13255984 single base substitution G A downstream_gene_variant EOPC-DE 19 13229737 13229737 single base substitution T G intron_variant ESAD-UK 19 13244784 13244784 insertion of <=200bp - A intron_variant ESAD-UK 19 13244784 13244784 insertion of <=200bp - A upstream_gene_variant ESAD-UK 19 13244972 13244972 single base substitution A C intron_variant ESAD-UK 19 13244972 13244972 single base substitution A C upstream_gene_variant ESAD-UK 19 13245402 13245402 single base substitution C T intron_variant ESAD-UK 19 13245402 13245402 single base substitution C T upstream_gene_variant ESAD-UK 19 13245827 13245827 single base substitution G T intron_variant ESAD-UK 19 13245827 13245827 single base substitution G T upstream_gene_variant ESAD-UK 19 13246546 13246546 single base substitution C T downstream_gene_variant ESAD-UK 19 13246546 13246546 single base substitution C T synonymous_variant S175S 525C>T ESAD-UK 19 13246546 13246546 single base substitution C T upstream_gene_variant ESAD-UK 19 13247568 13247568 single base substitution G A downstream_gene_variant ESAD-UK 19 13247568 13247568 single base substitution G A intron_variant ESAD-UK 19 13247568 13247568 single base substitution G A upstream_gene_variant ESAD-UK 19 13247816 13247816 single base substitution C T downstream_gene_variant ESAD-UK 19 13247816 13247816 single base substitution C T intron_variant ESAD-UK 19 13247816 13247816 single base substitution C T upstream_gene_variant ESAD-UK 19 13249292 13249292 single base substitution A T 3_prime_UTR_variant ESAD-UK 19 13249292 13249292 single base substitution A T downstream_gene_variant ESAD-UK 19 13249692 13249692 single base substitution C G 3_prime_UTR_variant ESAD-UK 19 13249692 13249692 single base substitution C G downstream_gene_variant ESAD-UK 19 13250278 13250278 single base substitution G C 3_prime_UTR_variant ESAD-UK 19 13250278 13250278 single base substitution G C downstream_gene_variant ESAD-UK 19 13254352 13254352 single base substitution G A downstream_gene_variant ESAD-UK 19 13254359 13254359 single base substitution C A downstream_gene_variant ESCA-CN 19 13248051 13248051 single base substitution C A downstream_gene_variant ESCA-CN 19 13248051 13248051 single base substitution C A intron_variant ESCA-CN 19 13248051 13248051 single base substitution C A upstream_gene_variant ESCA-CN 19 13249244 13249244 single base substitution A G 3_prime_UTR_variant ESCA-CN 19 13249244 13249244 single base substitution A G downstream_gene_variant KIRP-US 19 13226494 13226494 single base substitution T A upstream_gene_variant KIRP-US 19 13249116 13249116 single base substitution A G downstream_gene_variant KIRP-US 19 13249116 13249116 single base substitution A G missense_variant S494G 1480A>G KIRP-US 19 13249116 13249116 single base substitution A G missense_variant S61G 181A>G LAML-CN 19 13226583 13226583 single base substitution C G upstream_gene_variant LGG-US 19 13248162 13248162 single base substitution C G downstream_gene_variant LGG-US 19 13248162 13248162 single base substitution C G intron_variant LGG-US 19 13248162 13248162 single base substitution C G missense_variant R400G 1198C>G LINC-JP 19 13225457 13225457 single base substitution C T upstream_gene_variant LINC-JP 19 13237371 13237371 single base substitution G A intron_variant LINC-JP 19 13249169 13249169 single base substitution G T downstream_gene_variant LINC-JP 19 13249169 13249169 single base substitution G T missense_variant E511D 1533G>T LINC-JP 19 13249169 13249169 single base substitution G T missense_variant E78D 234G>T LINC-JP 19 13251205 13251205 single base substitution A C 3_prime_UTR_variant LINC-JP 19 13251205 13251205 single base substitution A C downstream_gene_variant LINC-JP 19 13254686 13254686 single base substitution T C downstream_gene_variant LIRI-JP 19 13230883 13230883 single base substitution C T intron_variant LIRI-JP 19 13231752 13231752 single base substitution T A intron_variant LIRI-JP 19 13233026 13233026 single base substitution T A intron_variant LIRI-JP 19 13233461 13233461 single base substitution G T intron_variant LIRI-JP 19 13238420 13238420 single base substitution G A intron_variant LIRI-JP 19 13238660 13238660 single base substitution C T intron_variant LIRI-JP 19 13239056 13239056 single base substitution T C intron_variant LIRI-JP 19 13242874 13242874 single base substitution C T intron_variant LIRI-JP 19 13243044 13243044 single base substitution A G intron_variant LIRI-JP 19 13244365 13244365 single base substitution C T intron_variant LIRI-JP 19 13244365 13244365 single base substitution C T upstream_gene_variant LIRI-JP 19 13244512 13244512 single base substitution A G intron_variant LIRI-JP 19 13244512 13244512 single base substitution A G upstream_gene_variant LIRI-JP 19 13245297 13245297 single base substitution G T intron_variant LIRI-JP 19 13245297 13245297 single base substitution G T upstream_gene_variant LIRI-JP 19 13245743 13245743 single base substitution T G intron_variant LIRI-JP 19 13245743 13245743 single base substitution T G upstream_gene_variant LIRI-JP 19 13250196 13250196 single base substitution T C 3_prime_UTR_variant LIRI-JP 19 13250196 13250196 single base substitution T C downstream_gene_variant LIRI-JP 19 13254675 13254675 single base substitution G A downstream_gene_variant LUSC-KR 19 13227868 13227868 single base substitution G C upstream_gene_variant LUSC-KR 19 13237700 13237700 single base substitution A G intron_variant LUSC-KR 19 13241697 13241697 single base substitution C T intron_variant LUSC-KR 19 13246689 13246689 single base substitution A T downstream_gene_variant LUSC-KR 19 13246689 13246689 single base substitution A T missense_variant Q223L 668A>T LUSC-KR 19 13246689 13246689 single base substitution A T upstream_gene_variant LUSC-KR 19 13246731 13246731 single base substitution C T downstream_gene_variant LUSC-KR 19 13246731 13246731 single base substitution C T missense_variant A237V 710C>T LUSC-KR 19 13246731 13246731 single base substitution C T upstream_gene_variant LUSC-KR 19 13246953 13246953 single base substitution A T downstream_gene_variant LUSC-KR 19 13246953 13246953 single base substitution A T missense_variant N311I 932A>T LUSC-KR 19 13246953 13246953 single base substitution A T upstream_gene_variant LUSC-KR 19 13247161 13247161 single base substitution C T downstream_gene_variant LUSC-KR 19 13247161 13247161 single base substitution C T synonymous_variant R354R 1062C>T LUSC-KR 19 13247161 13247161 single base substitution C T upstream_gene_variant LUSC-KR 19 13249119 13249119 single base substitution G A downstream_gene_variant LUSC-KR 19 13249119 13249119 single base substitution G A missense_variant E495K 1483G>A LUSC-KR 19 13249119 13249119 single base substitution G A missense_variant E62K 184G>A LUSC-KR 19 13255290 13255290 single base substitution C T downstream_gene_variant LUSC-US 19 13226547 13226547 single base substitution C A upstream_gene_variant LUSC-US 19 13255227 13255227 single base substitution G C downstream_gene_variant LUSC-US 19 13255242 13255242 single base substitution G C downstream_gene_variant MALY-DE 19 13228381 13228381 single base substitution T C upstream_gene_variant MELA-AU 19 13224080 13224080 single base substitution C T upstream_gene_variant MELA-AU 19 13224140 13224140 single base substitution G A upstream_gene_variant MELA-AU 19 13225271 13225271 single base substitution G A upstream_gene_variant MELA-AU 19 13225631 13225631 single base substitution G A upstream_gene_variant MELA-AU 19 13226790 13226790 single base substitution G A upstream_gene_variant MELA-AU 19 13227906 13227906 single base substitution C T upstream_gene_variant MELA-AU 19 13227936 13227936 single base substitution G A upstream_gene_variant MELA-AU 19 13228983 13228983 single base substitution C T intron_variant MELA-AU 19 13228983 13228983 single base substitution C T upstream_gene_variant MELA-AU 19 13230049 13230049 single base substitution C T intron_variant MELA-AU 19 13230090 13230090 single base substitution C T intron_variant MELA-AU 19 13230861 13230861 single base substitution C T intron_variant MELA-AU 19 13230894 13230894 single base substitution C T intron_variant MELA-AU 19 13230924 13230924 single base substitution C T intron_variant MELA-AU 19 13231595 13231595 single base substitution C T intron_variant MELA-AU 19 13232625 13232625 single base substitution C T intron_variant MELA-AU 19 13232657 13232657 single base substitution C T intron_variant MELA-AU 19 13232721 13232721 single base substitution C T intron_variant MELA-AU 19 13232841 13232841 single base substitution C T intron_variant MELA-AU 19 13233148 13233148 single base substitution C T intron_variant MELA-AU 19 13233331 13233331 single base substitution C T intron_variant MELA-AU 19 13233581 13233581 single base substitution C T intron_variant MELA-AU 19 13233934 13233934 single base substitution G A intron_variant MELA-AU 19 13234967 13234967 single base substitution C T intron_variant MELA-AU 19 13235476 13235476 single base substitution C T intron_variant MELA-AU 19 13236273 13236273 single base substitution T A intron_variant MELA-AU 19 13236438 13236438 single base substitution T C intron_variant MELA-AU 19 13236503 13236503 single base substitution G A intron_variant MELA-AU 19 13237722 13237722 single base substitution C T intron_variant MELA-AU 19 13237967 13237967 single base substitution C T intron_variant MELA-AU 19 13238124 13238124 single base substitution A C intron_variant MELA-AU 19 13238259 13238259 single base substitution C T intron_variant MELA-AU 19 13239546 13239546 single base substitution G A intron_variant MELA-AU 19 13239735 13239735 single base substitution C T intron_variant MELA-AU 19 13239954 13239954 single base substitution C T intron_variant MELA-AU 19 13240323 13240323 single base substitution C T intron_variant MELA-AU 19 13240390 13240390 single base substitution C T intron_variant MELA-AU 19 13240666 13240666 single base substitution C T intron_variant MELA-AU 19 13240938 13240938 single base substitution T A intron_variant MELA-AU 19 13241877 13241877 single base substitution C T intron_variant MELA-AU 19 13241954 13241954 single base substitution A T intron_variant MELA-AU 19 13242075 13242075 single base substitution T G intron_variant MELA-AU 19 13242255 13242255 single base substitution C T intron_variant MELA-AU 19 13242463 13242464 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 13242948 13242949 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 19 13243424 13243424 single base substitution G A intron_variant MELA-AU 19 13243424 13243424 single base substitution G A upstream_gene_variant MELA-AU 19 13243798 13243798 single base substitution C T intron_variant MELA-AU 19 13243798 13243798 single base substitution C T upstream_gene_variant MELA-AU 19 13244447 13244447 single base substitution C T intron_variant MELA-AU 19 13244447 13244447 single base substitution C T upstream_gene_variant MELA-AU 19 13244605 13244605 single base substitution C T intron_variant MELA-AU 19 13244605 13244605 single base substitution C T upstream_gene_variant MELA-AU 19 13244853 13244853 single base substitution T C intron_variant MELA-AU 19 13244853 13244853 single base substitution T C upstream_gene_variant MELA-AU 19 13245677 13245677 single base substitution C T intron_variant MELA-AU 19 13245677 13245677 single base substitution C T upstream_gene_variant MELA-AU 19 13246315 13246315 single base substitution C T synonymous_variant F98F 294C>T MELA-AU 19 13246315 13246315 single base substitution C T upstream_gene_variant MELA-AU 19 13246349 13246349 single base substitution C T stop_gained Q110* 328C>T MELA-AU 19 13246349 13246349 single base substitution C T upstream_gene_variant MELA-AU 19 13246396 13246396 single base substitution C T synonymous_variant S125S 375C>T MELA-AU 19 13246396 13246396 single base substitution C T upstream_gene_variant MELA-AU 19 13246440 13246440 single base substitution C T missense_variant S140L 419C>T MELA-AU 19 13246440 13246440 single base substitution C T upstream_gene_variant MELA-AU 19 13246755 13246755 single base substitution G C downstream_gene_variant MELA-AU 19 13246755 13246755 single base substitution G C missense_variant G245A 734G>C MELA-AU 19 13246755 13246755 single base substitution G C upstream_gene_variant MELA-AU 19 13247096 13247096 single base substitution C T downstream_gene_variant MELA-AU 19 13247096 13247096 single base substitution C T missense_variant R333C 997C>T MELA-AU 19 13247096 13247096 single base substitution C T upstream_gene_variant MELA-AU 19 13247299 13247299 single base substitution G A downstream_gene_variant MELA-AU 19 13247299 13247299 single base substitution G A intron_variant MELA-AU 19 13247299 13247299 single base substitution G A upstream_gene_variant MELA-AU 19 13247322 13247322 single base substitution C T downstream_gene_variant MELA-AU 19 13247322 13247322 single base substitution C T intron_variant MELA-AU 19 13247322 13247322 single base substitution C T upstream_gene_variant MELA-AU 19 13247703 13247703 single base substitution C T downstream_gene_variant MELA-AU 19 13247703 13247703 single base substitution C T intron_variant MELA-AU 19 13247703 13247703 single base substitution C T upstream_gene_variant MELA-AU 19 13247722 13247722 single base substitution G A downstream_gene_variant MELA-AU 19 13247722 13247722 single base substitution G A intron_variant MELA-AU 19 13247722 13247722 single base substitution G A upstream_gene_variant MELA-AU 19 13248977 13248977 single base substitution C T downstream_gene_variant MELA-AU 19 13248977 13248977 single base substitution C T synonymous_variant F14F 42C>T MELA-AU 19 13248977 13248977 single base substitution C T synonymous_variant F447F 1341C>T MELA-AU 19 13249524 13249524 single base substitution G A 3_prime_UTR_variant MELA-AU 19 13249524 13249524 single base substitution G A downstream_gene_variant MELA-AU 19 13249559 13249559 single base substitution C T 3_prime_UTR_variant MELA-AU 19 13249559 13249559 single base substitution C T downstream_gene_variant MELA-AU 19 13251200 13251200 insertion of <=200bp - AAA 3_prime_UTR_variant MELA-AU 19 13251200 13251200 insertion of <=200bp - AAA downstream_gene_variant MELA-AU 19 13251938 13251938 single base substitution T A 3_prime_UTR_variant MELA-AU 19 13251938 13251938 single base substitution T A downstream_gene_variant MELA-AU 19 13253436 13253436 deletion of <=200bp G - downstream_gene_variant MELA-AU 19 13254137 13254137 single base substitution C T downstream_gene_variant MELA-AU 19 13254868 13254868 single base substitution C A downstream_gene_variant MELA-AU 19 13256432 13256432 single base substitution G A downstream_gene_variant MELA-AU 19 13256645 13256645 single base substitution C T downstream_gene_variant MELA-AU 19 13256868 13256868 single base substitution G A downstream_gene_variant ORCA-IN 19 13230641 13230641 single base substitution G A intron_variant ORCA-IN 19 13246345 13246345 single base substitution G C missense_variant Q108H 324G>C ORCA-IN 19 13246345 13246345 single base substitution G C upstream_gene_variant ORCA-IN 19 13255959 13255959 single base substitution G A downstream_gene_variant ORCA-IN 19 13256708 13256708 single base substitution G T downstream_gene_variant OV-AU 19 13224743 13224743 single base substitution G A upstream_gene_variant OV-AU 19 13240672 13240672 single base substitution C G intron_variant OV-AU 19 13247337 13247337 single base substitution G A downstream_gene_variant OV-AU 19 13247337 13247337 single base substitution G A intron_variant OV-AU 19 13247337 13247337 single base substitution G A upstream_gene_variant OV-AU 19 13249462 13249462 single base substitution G C 3_prime_UTR_variant OV-AU 19 13249462 13249462 single base substitution G C downstream_gene_variant OV-AU 19 13251746 13251746 single base substitution T A 3_prime_UTR_variant OV-AU 19 13251746 13251746 single base substitution T A downstream_gene_variant OV-AU 19 13255007 13255007 single base substitution G A downstream_gene_variant OV-AU 19 13256038 13256038 single base substitution C A downstream_gene_variant PACA-AU 19 13227627 13227627 single base substitution G T upstream_gene_variant PACA-AU 19 13233391 13233391 single base substitution G A intron_variant PACA-AU 19 13233975 13233975 single base substitution T C intron_variant PACA-AU 19 13235997 13235997 single base substitution C T intron_variant PACA-AU 19 13240294 13240294 single base substitution T A intron_variant PACA-AU 19 13252441 13252445 deletion of <=200bp TTTTC - downstream_gene_variant PACA-AU 19 13253273 13253273 single base substitution G A downstream_gene_variant PACA-AU 19 13256667 13256667 single base substitution G T downstream_gene_variant PACA-CA 19 13224666 13224666 single base substitution C T upstream_gene_variant PACA-CA 19 13226916 13226916 single base substitution T A upstream_gene_variant PACA-CA 19 13229014 13229014 single base substitution G C intron_variant PACA-CA 19 13229014 13229014 single base substitution G C upstream_gene_variant PACA-CA 19 13231843 13231843 insertion of <=200bp - T intron_variant PACA-CA 19 13235769 13235769 single base substitution A G intron_variant PACA-CA 19 13240777 13240777 single base substitution T C intron_variant PACA-CA 19 13241782 13241782 single base substitution C T intron_variant PACA-CA 19 13245880 13245880 single base substitution T C intron_variant PACA-CA 19 13245880 13245880 single base substitution T C upstream_gene_variant PACA-CA 19 13246731 13246731 single base substitution C T downstream_gene_variant PACA-CA 19 13246731 13246731 single base substitution C T missense_variant A237V 710C>T PACA-CA 19 13246731 13246731 single base substitution C T upstream_gene_variant PACA-CA 19 13250172 13250172 single base substitution C A 3_prime_UTR_variant PACA-CA 19 13250172 13250172 single base substitution C A downstream_gene_variant PACA-CA 19 13252744 13252744 single base substitution A G downstream_gene_variant PACA-CA 19 13255549 13255549 single base substitution C A downstream_gene_variant PAEN-AU 19 13251100 13251100 single base substitution A C 3_prime_UTR_variant PAEN-AU 19 13251100 13251100 single base substitution A C downstream_gene_variant PBCA-DE 19 13232636 13232636 single base substitution C G intron_variant PBCA-DE 19 13234256 13234256 single base substitution A G intron_variant PBCA-DE 19 13243829 13243829 single base substitution G T intron_variant PBCA-DE 19 13243829 13243829 single base substitution G T upstream_gene_variant PBCA-DE 19 13254788 13254788 single base substitution C T downstream_gene_variant PRAD-CA 19 13230523 13230523 single base substitution C T intron_variant PRAD-CA 19 13234421 13234421 single base substitution G T intron_variant PRAD-US 19 13249043 13249043 single base substitution C T downstream_gene_variant PRAD-US 19 13249043 13249043 single base substitution C T synonymous_variant R36R 108C>T PRAD-US 19 13249043 13249043 single base substitution C T synonymous_variant R469R 1407C>T READ-US 19 13255672 13255672 single base substitution C A downstream_gene_variant RECA-EU 19 13241432 13241432 single base substitution C A intron_variant SKCA-BR 19 13225482 13225482 single base substitution T A upstream_gene_variant SKCA-BR 19 13225485 13225486 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 19 13226894 13226894 single base substitution A C upstream_gene_variant SKCA-BR 19 13233337 13233338 deletion of <=200bp CG - intron_variant SKCA-BR 19 13233462 13233462 single base substitution T G intron_variant SKCA-BR 19 13234856 13234856 single base substitution C T intron_variant SKCA-BR 19 13236226 13236228 deletion of <=200bp CTT - intron_variant SKCA-BR 19 13236325 13236325 single base substitution C T intron_variant SKCA-BR 19 13237612 13237612 single base substitution T G intron_variant SKCA-BR 19 13238867 13238867 single base substitution G A intron_variant SKCA-BR 19 13242117 13242117 single base substitution T C intron_variant SKCA-BR 19 13242132 13242132 single base substitution C T intron_variant SKCA-BR 19 13242583 13242583 single base substitution C T intron_variant SKCA-BR 19 13249046 13249046 single base substitution C T downstream_gene_variant SKCA-BR 19 13249046 13249046 single base substitution C T synonymous_variant V37V 111C>T SKCA-BR 19 13249046 13249046 single base substitution C T synonymous_variant V470V 1410C>T SKCA-BR 19 13251279 13251279 single base substitution A C 3_prime_UTR_variant SKCA-BR 19 13251279 13251279 single base substitution A C downstream_gene_variant SKCA-BR 19 13255443 13255443 single base substitution G A downstream_gene_variant SKCA-BR 19 13255444 13255444 single base substitution G A downstream_gene_variant SKCM-US 19 13226254 13226254 single base substitution C T upstream_gene_variant SKCM-US 19 13226814 13226814 single base substitution G A upstream_gene_variant SKCM-US 19 13227068 13227068 single base substitution G A upstream_gene_variant SKCM-US 19 13227162 13227162 single base substitution G A upstream_gene_variant SKCM-US 19 13246057 13246057 single base substitution C T synonymous_variant F12F 36C>T SKCM-US 19 13246057 13246057 single base substitution C T upstream_gene_variant SKCM-US 19 13246315 13246315 single base substitution C T synonymous_variant F98F 294C>T SKCM-US 19 13246315 13246315 single base substitution C T upstream_gene_variant SKCM-US 19 13246834 13246834 single base substitution C T downstream_gene_variant SKCM-US 19 13246834 13246834 single base substitution C T synonymous_variant T271T 813C>T SKCM-US 19 13246834 13246834 single base substitution C T upstream_gene_variant SKCM-US 19 13247126 13247126 single base substitution C T downstream_gene_variant SKCM-US 19 13247126 13247126 single base substitution C T missense_variant L343F 1027C>T SKCM-US 19 13247126 13247126 single base substitution C T upstream_gene_variant SKCM-US 19 13248977 13248977 single base substitution C T downstream_gene_variant SKCM-US 19 13248977 13248977 single base substitution C T synonymous_variant F14F 42C>T SKCM-US 19 13248977 13248977 single base substitution C T synonymous_variant F447F 1341C>T SKCM-US 19 13255265 13255265 single base substitution C T downstream_gene_variant STAD-US 19 13226178 13226178 single base substitution A C upstream_gene_variant STAD-US 19 13226181 13226181 single base substitution C T upstream_gene_variant STAD-US 19 13226211 13226211 single base substitution G A upstream_gene_variant STAD-US 19 13226508 13226508 single base substitution G A upstream_gene_variant STAD-US 19 13226979 13226979 single base substitution C T upstream_gene_variant STAD-US 19 13246114 13246114 single base substitution C T synonymous_variant D31D 93C>T STAD-US 19 13246114 13246114 single base substitution C T upstream_gene_variant STAD-US 19 13246173 13246173 single base substitution G A missense_variant S51N 152G>A STAD-US 19 13246173 13246173 single base substitution G A upstream_gene_variant STAD-US 19 13248179 13248181 deletion of <=200bp CTT - downstream_gene_variant STAD-US 19 13248179 13248181 deletion of <=200bp CTT - inframe_deletion SF405S STAD-US 19 13248179 13248181 deletion of <=200bp CTT - intron_variant STAD-US 19 13249039 13249039 single base substitution G A downstream_gene_variant STAD-US 19 13249039 13249039 single base substitution G A missense_variant R35H 104G>A STAD-US 19 13249039 13249039 single base substitution G A missense_variant R468H 1403G>A STAD-US 19 13249068 13249068 single base substitution A G downstream_gene_variant STAD-US 19 13249068 13249068 single base substitution A G missense_variant K45E 133A>G STAD-US 19 13249068 13249068 single base substitution A G missense_variant K478E 1432A>G STAD-US 19 13249171 13249171 single base substitution C T downstream_gene_variant STAD-US 19 13249171 13249171 single base substitution C T missense_variant T512I 1535C>T STAD-US 19 13249171 13249171 single base substitution C T missense_variant T79I 236C>T STAD-US 19 13249192 13249192 single base substitution C T downstream_gene_variant STAD-US 19 13249192 13249192 single base substitution C T missense_variant A519V 1556C>T STAD-US 19 13249192 13249192 single base substitution C T missense_variant A86V 257C>T STAD-US 19 13255675 13255675 single base substitution C T downstream_gene_variant STAD-US 19 13256151 13256151 single base substitution G A downstream_gene_variant THCA-SA 19 13249244 13249244 single base substitution A G 3_prime_UTR_variant THCA-SA 19 13249244 13249244 single base substitution A G downstream_gene_variant UCEC-US 19 13246664 13246664 single base substitution C T downstream_gene_variant UCEC-US 19 13246664 13246664 single base substitution C T missense_variant R215W 643C>T UCEC-US 19 13246664 13246664 single base substitution C T upstream_gene_variant UCEC-US 19 13246838 13246838 single base substitution G A downstream_gene_variant UCEC-US 19 13246838 13246838 single base substitution G A missense_variant D273N 817G>A UCEC-US 19 13246838 13246838 single base substitution G A upstream_gene_variant UCEC-US 19 13246888 13246888 single base substitution C T downstream_gene_variant UCEC-US 19 13246888 13246888 single base substitution C T synonymous_variant G289G 867C>T UCEC-US 19 13246888 13246888 single base substitution C T upstream_gene_variant UCEC-US 19 13248998 13248998 single base substitution C T downstream_gene_variant UCEC-US 19 13248998 13248998 single base substitution C T synonymous_variant S21S 63C>T UCEC-US 19 13248998 13248998 single base substitution C T synonymous_variant S454S 1362C>T UCEC-US 19 13249014 13249014 single base substitution G A downstream_gene_variant UCEC-US 19 13249014 13249014 single base substitution G A missense_variant A27T 79G>A UCEC-US 19 13249014 13249014 single base substitution G A missense_variant A460T 1378G>A UCEC-US 19 13255247 13255247 single base substitution G A downstream_gene_variant UCEC-US 19 13255589 13255589 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11Y-01 COSM991582 c.643C>T p.R215W Substitution - Missense 19:13135850-13135850 + TCGA-D8-A140-01 COSM438658 c.1176C>T p.G392G Substitution - coding silent 19:13137326-13137326 + TCGA-CM-6676-01 COSM1390718 c.265C>T p.R89W Substitution - Missense 19:13135472-13135472 + sysucc-834T COSM5485989 c.540C>T p.P180P Substitution - coding silent 19:13135747-13135747 + T3202 COSM4705398 c.404C>T p.A135V Substitution - Missense 19:13135611-13135611 + HCT-116 COSM1680720 c.1193T>C p.L398P Substitution - Missense 19:13137343-13137343 + Pat_41_B COSM5854745 c.1435G>A p.V479I Substitution - Missense 19:13138257-13138257 + TCGA-D1-A101-01 COSM991584 c.867C>T p.G289G Substitution - coding silent 19:13136074-13136074 + sysucc-1370T COSM1390716 c.71G>A p.R24Q Substitution - Missense 19:13135278-13135278 + ESCC_165 COSM3528989 c.36C>T p.F12F Substitution - coding silent 19:13135243-13135243 + TCGA-D5-6928-01 COSM1390716 c.71G>A p.R24Q Substitution - Missense 19:13135278-13135278 + LUAD-5V8LT COSM401806 c.739G>T p.A247S Substitution - Missense 19:13135946-13135946 + SNU-175 COSM2817291 c.1551C>T p.G517G Substitution - coding silent 19:13138373-13138373 + HCT15 COSM1680719 c.1145C>T p.A382V Substitution - Missense 19:13137295-13137295 + SW48 COSM2817290 c.1502C>G p.P501R Substitution - Missense 19:13138324-13138324 + TCGA-EE-A29E-06 COSM3528991 c.813C>T p.T271T Substitution - coding silent 19:13136020-13136020 + TCGA-DK-A1AC-01 COSM1304058 c.831C>T p.S277S Substitution - coding silent 19:13136038-13136038 + TCGA-CM-6678-01 COSM1390717 c.134G>A p.R45Q Substitution - Missense 19:13135341-13135341 + CCK81 COSM2817283 c.1178C>T p.T393M Substitution - Missense 19:13137328-13137328 + TCGA-EB-A431-01 COSM3528989 c.36C>T p.F12F Substitution - coding silent 19:13135243-13135243 + CSCC-41-T COSM4457515 c.1048C>T p.Q350* Substitution - Nonsense 19:13136333-13136333 + STC263 COSM4074575 c.93C>T p.D31D Substitution - coding silent 19:13135300-13135300 + CCK81 COSM2817282 c.1132T>C p.Y378H Substitution - Missense 19:13137282-13137282 + PTC-7C COSM4131233 c.588C>T p.G196G Substitution - coding silent 19:13135795-13135795 + TCGA-EK-A2PG-01 COSM4819917 c.1262G>A p.R421H Substitution - Missense 19:13137513-13137513 + J10_T COSM3959568 c.1268C>G p.S423C Substitution - Missense 19:13137519-13137519 + TCGA-KK-A59V-01 COSM2817288 c.1407C>T p.R469R Substitution - coding silent 19:13138229-13138229 + TCGA-HU-A4GN-01 COSM4074577 c.1432A>G p.K478E Substitution - Missense 19:13138254-13138254 + BD72T COSM5513469 c.1487C>T p.T496M Substitution - Missense 19:13138309-13138309 + HCT116 COSM2817258 c.17A>G p.Q6R Substitution - Missense 19:13135224-13135224 + pfg212T COSM4746698 c.1024_1025delTC p.L343fs*3 Deletion - Frameshift 19:13136309-13136310 + TCGA-EB-A5UL-06 COSM3528993 c.1341C>T p.F447F Substitution - coding silent 19:13138163-13138163 + TCGA-A5-A0RA-01 COSM991583 c.817G>A p.D273N Substitution - Missense 19:13136024-13136024 + TCGA-CD-A4MG-01 COSM4074578 c.1535C>T p.T512I Substitution - Missense 19:13138357-13138357 + T3225 COSM4705400 c.1064G>A p.C355Y Substitution - Missense 19:13136349-13136349 + TCGA-BS-A0UM-01 COSM991585 c.1317T>C p.A439A Substitution - coding silent 19:13137568-13137568 + S00838 COSM5661517 c.676C>G p.P226A Substitution - Missense 19:13135883-13135883 + TCGA-AN-A0FS-01 COSM5833629 c.374delC p.P126fs*41 Deletion - Frameshift 19:13135581-13135581 + BD57T COSM5511029 c.968C>T p.P323L Substitution - Missense 19:13136253-13136253 + HCC34T COSM1611607 c.1533G>T p.E511D Substitution - Missense 19:13138355-13138355 + 1384-01-01TD COSM5416340 c.1081G>A p.D361N Substitution - Missense 19:13136366-13136366 + TCGA-EE-A29L-06 COSM3528990 c.294C>T p.F98F Substitution - coding silent 19:13135501-13135501 + 13T COSM3712804 c.324G>C p.Q108H Substitution - Missense 19:13135531-13135531 + SNU-175 COSM1390718 c.265C>T p.R89W Substitution - Missense 19:13135472-13135472 + C086 COSM5535190 c.389C>T p.S130F Substitution - Missense 19:13135596-13135596 + HCC34 COSM1611607 c.1533G>T p.E511D Substitution - Missense 19:13138355-13138355 + SN12C COSM1390716 c.71G>A p.R24Q Substitution - Missense 19:13135278-13135278 + CSCC-47-T COSM4513707 c.948C>T p.A316A Substitution - coding silent 19:13136233-13136233 + ESCC_76 COSM5635132 c.199G>A p.V67M Substitution - Missense 19:13135406-13135406 + 587316 COSM1216592 c.212C>T p.A71V Substitution - Missense 19:13135419-13135419 + BD96T COSM5520625 c.1361G>A p.S454N Substitution - Missense 19:13138183-13138183 + CSCC-31-T COSM4525824 c.1357G>A p.E453K Substitution - Missense 19:13138179-13138179 + LOVO COSM4645322 c.301A>G p.M101V Substitution - Missense 19:13135508-13135508 + TCGA-AP-A051-01 COSM991586 c.1362C>T p.S454S Substitution - coding silent 19:13138184-13138184 + TCGA-AA-3877-01 COSM296501 c.439G>A p.V147M Substitution - Missense 19:13135646-13135646 + BD180T COSM5495215 c.1227-2A>C p.? Unknown 19:13137476-13137476 + TCGA-D1-A103-01 COSM991587 c.1378G>A p.A460T Substitution - Missense 19:13138200-13138200 + 2318492 COSM4776985 c.892C>T p.R298W Substitution - Missense 19:13136099-13136099 + CCK81 COSM4620733 c.377C>T p.P126L Substitution - Missense 19:13135584-13135584 + Patient_1 COSM5044718 c.1516G>T p.V506L Substitution - Missense 19:13138338-13138338 + TCGA-A4-7288-01 COSM3989723 c.1480A>G p.S494G Substitution - Missense 19:13138302-13138302 + TCGA-DB-A64V-01 COSM3970732 c.1198C>G p.R400G Substitution - Missense 19:13137348-13137348 + BD57T COSM5511030 c.1080C>T p.Y360Y Substitution - coding silent 19:13136365-13136365 + 587342 COSM1216593 c.956T>C p.V319A Substitution - Missense 19:13136241-13136241 + TCGA-BR-8591-01 COSM4074575 c.93C>T p.D31D Substitution - coding silent 19:13135300-13135300 + S02351 COSM5695057 c.252C>G p.F84L Substitution - Missense 19:13135459-13135459 + ESCC_60 COSM5650034 c.1215_1217delCTT p.F407delF Deletion - In frame 19:13137365-13137367 + TCGA-E2-A1LB-01 COSM1480609 c.1077C>G p.L359L Substitution - coding silent 19:13136362-13136362 + PCSI_0090_Pa_X COSM3378617 c.710C>T p.A237V Substitution - Missense 19:13135917-13135917 + OSCC-GB_00130111 COSM3712804 c.324G>C p.Q108H Substitution - Missense 19:13135531-13135531 + T3104 COSM4705401 c.1379C>T p.A460V Substitution - Missense 19:13138201-13138201 + HCT116 COSM1680720 c.1193T>C p.L398P Substitution - Missense 19:13137343-13137343 + TCGA-HU-A4GQ-01 COSM2817261 c.152G>A p.S51N Substitution - Missense 19:13135359-13135359 + TCGA-E7-A3X6-01 COSM3796674 c.18G>C p.Q6H Substitution - Missense 19:13135225-13135225 + BD112T COSM5490883 c.1226+2T>A p.? Unknown 19:13137378-13137378 + ESO-1733 COSM1258670 c.342G>A p.E114E Substitution - coding silent 19:13135549-13135549 + J13_T COSM3959567 c.932A>T p.N311I Substitution - Missense 19:13136139-13136139 + T2345 COSM4705399 c.1017C>G p.D339E Substitution - Missense 19:13136302-13136302 + HCT-15 COSM1680719 c.1145C>T p.A382V Substitution - Missense 19:13137295-13137295 + LAU108 COSM232848 c.119C>T p.A40V Substitution - Missense 19:13135326-13135326 + TCGA-AA-3663-01 COSM1390721 c.1276G>A p.D426N Substitution - Missense 19:13137527-13137527 + TCGA-D3-A2JG-06 COSM3528992 c.1027C>T p.L343F Substitution - Missense 19:13136312-13136312 + SNU-C2B COSM2817268 c.873G>A p.E291E Substitution - coding silent 19:13136080-13136080 + PCSI_0090_Pa_P COSM3378617 c.710C>T p.A237V Substitution - Missense 19:13135917-13135917 + TCGA-CG-4442-01 COSM4074576 c.1403G>A p.R468H Substitution - Missense 19:13138225-13138225 + S01563 COSM5669992 c.493C>T p.R165W Substitution - Missense 19:13135700-13135700 + 3N21-VS-3T21 COSM4979349 c.1565C>G p.S522W Substitution - Missense 19:13138387-13138387 + TCGA-FP-A4BE-01 COSM4074579 c.1556C>T p.A519V Substitution - Missense 19:13138378-13138378 + S00836 COSM313100 c.86A>T p.Y29F Substitution - Missense 19:13135293-13135293 + H2171 COSM313099 c.1542C>A p.S514R Substitution - Missense 19:13138364-13138364 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.531610;Hs.531614 19p13.2 610672

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.Y29F c.86A>T 19 13246107 SCLC C G Synonymous p.L359L c.1077C>G 19 13247176 BRCA C G Synonymous p.T305T c.915C>G 19 13246936 CM C T Missense p.L343F c.1027C>T 19 13247126 CM C T Missense p.R215W c.643C>T 19 13246664 UCEC C T Synonymous p.C416C c.1248C>T 19 13248313 STAD C T Synonymous p.F98F c.294C>T 19 13246315 CM C T Synonymous p.G289G c.867C>T 19 13246888 UCEC C T Synonymous p.G392G c.1176C>T 19 13248140 BRCA G A Missense p.D273N c.817G>A 19 13246838 UCEC G A Missense p.V47M c.139G>A 19 13246160 CM G C Missense p.E370Q c.1108G>C 19 13247207 HNSC G C Missense p.Q3H c.9G>C 19 13246030 LUAD GC TT MultiAAMissense p.E507_H508delinsDY c.1521_1522delinsTT 19 13249157 LUAD G T Missense p.G363C c.1087G>T 19 13247186 HNSC G T Nonsense p.E367* c.1099G>T 19 13247198 HNSC G T Synonymous p.T103T c.309G>T 19 13246330 STAD