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 14 92537344 92537344 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr14:92537344G>T c.926C>A c.(925-927)tCa>tAa p.S309* BLCA 14 92548672 92548672 + Silent SNP G G C TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr14:92548672G>C c.747C>G c.(745-747)ctC>ctG p.L249L BLCA 14 92555107 92555107 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr14:92555107G>C c.442C>G c.(442-444)Ctt>Gtt p.L148V BLCA 14 92555135 92555135 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr14:92555135C>G c.414G>C c.(412-414)acG>acC p.T138T BLCA 14 92559658 92559658 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr14:92559658C>T c.325G>A c.(325-327)Gaa>Aaa p.E109K BLCA 14 92560118 92560118 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr14:92560118C>G c.292G>C c.(292-294)Gag>Cag p.E98Q BLCA 14 92562453 92562453 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr14:92562453C>A c.218G>T c.(217-219)gGt>gTt p.G73V BLCA 14 92563113 92563113 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr14:92563113C>T c.94G>A c.(94-96)Gaa>Aaa p.E32K BRCA 14 92548745 92548745 + Missense_Mutation SNP T T G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr14:92548745T>G c.674A>C c.(673-675)gAt>gCt p.D225A BRCA 14 92562444 92562444 + Missense_Mutation SNP G G A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 g.chr14:92562444G>A c.227C>T c.(226-228)tCt>tTt p.S76F BRCA 14 92563069 92563069 + Missense_Mutation SNP C C G TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr14:92563069C>G c.138G>C c.(136-138)atG>atC p.M46I CESC 14 92555077 92555077 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr14:92555077C>T c.472G>A c.(472-474)Gaa>Aaa p.E158K COAD 14 92548704 92548704 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:92548704C>A c.715G>T c.(715-717)Gaa>Taa p.E239* COAD 14 92549503 92549503 + Missense_Mutation SNP A A T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr14:92549503A>T c.575T>A c.(574-576)aTt>aAt p.I192N COAD 14 92549562 92549562 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:92549562G>A c.516C>T c.(514-516)tgC>tgT p.C172C COAD 14 92560103 92560103 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr14:92560103T>C c.307A>G c.(307-309)Agg>Ggg p.R103G COAD 14 92563031 92563031 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:92563031C>T c.176G>A c.(175-177)cGc>cAc p.R59H COADREAD 14 92548704 92548704 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:92548704C>A c.715G>T c.(715-717)Gaa>Taa p.E239* COADREAD 14 92549503 92549503 + Missense_Mutation SNP A A T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr14:92549503A>T c.575T>A c.(574-576)aTt>aAt p.I192N COADREAD 14 92549562 92549562 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:92549562G>A c.516C>T c.(514-516)tgC>tgT p.C172C COADREAD 14 92560103 92560103 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr14:92560103T>C c.307A>G c.(307-309)Agg>Ggg p.R103G COADREAD 14 92563031 92563031 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:92563031C>T c.176G>A c.(175-177)cGc>cAc p.R59H ESCA 14 92563080 92563080 + Missense_Mutation SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr14:92563080C>G c.127G>C c.(127-129)Gag>Cag p.E43Q HNSC 14 92537302 92537302 + Missense_Mutation SNP G G A TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr14:92537302G>A c.968C>T c.(967-969)tCa>tTa p.S323L HNSC 14 92549555 92549555 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr14:92549555C>T c.523G>A c.(523-525)Gac>Aac p.D175N HNSC 14 92560173 92560173 + Frame_Shift_Del DEL A A - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr14:92560173delA c.237delT c.(235-237)gttfs p.V79fs HNSC 14 92563016 92563016 + Splice_Site SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr14:92563016A>G c.e2+1 HNSC 14 92563179 92563179 + Nonsense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr14:92563179C>A c.28G>T c.(28-30)Gaa>Taa p.E10* KIPAN 14 92537387 92537388 + Missense_Mutation DNP TT TT GC TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr14:92537387_92537388TT>GC c.882_883AA>GC c.(880-885)caAAag>caGCag p.K295Q KIPAN 14 92549507 92549507 + Missense_Mutation SNP G G C TCGA-HE-A5NF-01A-11D-A26P-10 TCGA-HE-A5NF-10A-01D-A26P-10 g.chr14:92549507G>C c.571C>G c.(571-573)Ctt>Gtt p.L191V KIRC 14 92537387 92537388 + Missense_Mutation DNP TT TT GC TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr14:92537387_92537388TT>GC c.882_883AA>GC c.(880-885)caAAag>caGCag p.K295Q KIRP 14 92549507 92549507 + Missense_Mutation SNP G G C TCGA-HE-A5NF-01A-11D-A26P-10 TCGA-HE-A5NF-10A-01D-A26P-10 g.chr14:92549507G>C c.571C>G c.(571-573)Ctt>Gtt p.L191V LIHC 14 92548653 92548653 + Missense_Mutation SNP T T G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr14:92548653T>G c.766A>C c.(766-768)Agt>Cgt p.S256R LUAD 14 92572893 92572893 + Missense_Mutation SNP C C T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr14:92572893C>T c.4G>A c.(4-6)Gag>Aag p.E2K LUSC 14 92530748 92530748 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr14:92530748C>A c.1002G>T c.(1000-1002)atG>atT p.M334I LUSC 14 92548666 92548666 + Missense_Mutation SNP C C A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr14:92548666C>A c.753G>T c.(751-753)agG>agT p.R251S LUSC 14 92549498 92549498 + Nonsense_Mutation SNP C C A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr14:92549498C>A c.580G>T c.(580-582)Gaa>Taa p.E194* LUSC 14 92555162 92555162 + Splice_Site SNP C C T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr14:92555162C>T c.e6-1 LUSC 14 92563086 92563086 + Missense_Mutation SNP C C G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr14:92563086C>G c.121G>C c.(121-123)Gat>Cat p.D41H PRAD 14 92548749 92548749 + Nonsense_Mutation SNP C C A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr14:92548749C>A c.670G>T c.(670-672)Gaa>Taa p.E224* SARC 14 92537357 92537358 + In_Frame_Ins INS - - CTGCTGCTGCTGCTGCTG TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 g.chr14:92537357_92537358insCTGCTGCTGCTGCTGCTG c.912_913insCAGCAGCAGCAGCAGCAG c.(910-915)cagcag>cagCAGCAGCAGCAGCAGCAGcag p.304_305QQ>QQQQQQQQ SKCM 14 92559603 92559603 + Missense_Mutation SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr14:92559603C>T c.380G>A c.(379-381)gGa>gAa p.G127E

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 14 92563075 92563075 single base substitution C G exon_variant BLCA-CN 14 92563075 92563075 single base substitution C G intron_variant BLCA-CN 14 92563075 92563075 single base substitution C G missense_variant E36D 108G>C BLCA-CN 14 92563075 92563075 single base substitution C G missense_variant E44D 132G>C BLCA-CN 14 92563075 92563075 single base substitution C G upstream_gene_variant BLCA-CN 14 92572889 92572889 single base substitution G T 5_prime_UTR_variant BLCA-CN 14 92572889 92572889 single base substitution G T exon_variant BLCA-CN 14 92572889 92572889 single base substitution G T missense_variant S3Y 8C>A BLCA-US 14 92537344 92537344 single base substitution G T 3_prime_UTR_variant BLCA-US 14 92537344 92537344 single base substitution G T exon_variant BLCA-US 14 92537344 92537344 single base substitution G T intron_variant BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S130* 389C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S203* 608C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S211* 632C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S239* 716C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S254* 761C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S258* 773C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S294* 881C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S302* 905C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S308* 923C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S309* 926C>A BLCA-US 14 92537344 92537344 single base substitution G T stop_gained S318* 953C>A BLCA-US 14 92555107 92555107 single base substitution G C 3_prime_UTR_variant BLCA-US 14 92555107 92555107 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 14 92555107 92555107 single base substitution G C downstream_gene_variant BLCA-US 14 92555107 92555107 single base substitution G C exon_variant BLCA-US 14 92555107 92555107 single base substitution G C intron_variant BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L133V 397C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L147V 439C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L148V 442C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L42V 124C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L50V 148C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L78V 232C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L82V 244C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L93V 277C>G BLCA-US 14 92555107 92555107 single base substitution G C missense_variant L97V 289C>G BLCA-US 14 92555107 92555107 single base substitution G C splice_region_variant BLCA-US 14 92555135 92555135 single base substitution C G 3_prime_UTR_variant BLCA-US 14 92555135 92555135 single base substitution C G 5_prime_UTR_variant BLCA-US 14 92555135 92555135 single base substitution C G downstream_gene_variant BLCA-US 14 92555135 92555135 single base substitution C G exon_variant BLCA-US 14 92555135 92555135 single base substitution C G intron_variant BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T123T 369G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T137T 411G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T138T 414G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T32T 96G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T40T 120G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T68T 204G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T72T 216G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T83T 249G>C BLCA-US 14 92555135 92555135 single base substitution C G synonymous_variant T87T 261G>C BLCA-US 14 92560118 92560118 single base substitution C G downstream_gene_variant BLCA-US 14 92560118 92560118 single base substitution C G exon_variant BLCA-US 14 92560118 92560118 single base substitution C G intron_variant BLCA-US 14 92560118 92560118 single base substitution C G missense_variant E28Q 82G>C BLCA-US 14 92560118 92560118 single base substitution C G missense_variant E43Q 127G>C BLCA-US 14 92560118 92560118 single base substitution C G missense_variant E83Q 247G>C BLCA-US 14 92560118 92560118 single base substitution C G missense_variant E90Q 268G>C BLCA-US 14 92560118 92560118 single base substitution C G missense_variant E97Q 289G>C BLCA-US 14 92560118 92560118 single base substitution C G missense_variant E98Q 292G>C BLCA-US 14 92560118 92560118 single base substitution C G upstream_gene_variant BRCA-EU 14 92520284 92520284 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 92520951 92520951 single base substitution T G downstream_gene_variant BRCA-EU 14 92521041 92521041 single base substitution G T downstream_gene_variant BRCA-EU 14 92521062 92521062 single base substitution G A downstream_gene_variant BRCA-EU 14 92522435 92522435 single base substitution T C downstream_gene_variant BRCA-EU 14 92523865 92523865 single base substitution C G downstream_gene_variant BRCA-EU 14 92524164 92524164 single base substitution C A downstream_gene_variant BRCA-EU 14 92524928 92524928 single base substitution C G 3_prime_UTR_variant BRCA-EU 14 92524928 92524928 single base substitution C G downstream_gene_variant BRCA-EU 14 92524928 92524928 single base substitution C G exon_variant BRCA-EU 14 92525317 92525317 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 92525317 92525317 single base substitution C T downstream_gene_variant BRCA-EU 14 92525317 92525317 single base substitution C T intron_variant BRCA-EU 14 92530502 92530502 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 92530502 92530502 single base substitution C T intron_variant BRCA-EU 14 92532081 92532081 single base substitution C T intron_variant BRCA-EU 14 92533230 92533230 single base substitution C T downstream_gene_variant BRCA-EU 14 92533230 92533230 single base substitution C T intron_variant BRCA-EU 14 92536388 92536388 single base substitution C T downstream_gene_variant BRCA-EU 14 92536388 92536388 single base substitution C T intron_variant BRCA-EU 14 92536442 92536442 single base substitution C A downstream_gene_variant BRCA-EU 14 92536442 92536442 single base substitution C A intron_variant BRCA-EU 14 92536534 92536534 single base substitution G A downstream_gene_variant BRCA-EU 14 92536534 92536534 single base substitution G A intron_variant BRCA-EU 14 92536931 92536931 single base substitution A G downstream_gene_variant BRCA-EU 14 92536931 92536931 single base substitution A G intron_variant BRCA-EU 14 92537655 92537655 single base substitution C A intron_variant BRCA-EU 14 92537981 92537981 single base substitution C T intron_variant BRCA-EU 14 92538140 92538140 single base substitution C G intron_variant BRCA-EU 14 92538741 92538741 single base substitution G A intron_variant BRCA-EU 14 92539642 92539642 single base substitution C T intron_variant BRCA-EU 14 92541039 92541039 single base substitution C G intron_variant BRCA-EU 14 92543782 92543782 single base substitution C G downstream_gene_variant BRCA-EU 14 92543782 92543782 single base substitution C G intron_variant BRCA-EU 14 92544516 92544516 single base substitution G C downstream_gene_variant BRCA-EU 14 92544516 92544516 single base substitution G C intron_variant BRCA-EU 14 92546261 92546261 single base substitution T C downstream_gene_variant BRCA-EU 14 92546261 92546261 single base substitution T C intron_variant BRCA-EU 14 92546395 92546395 single base substitution T A downstream_gene_variant BRCA-EU 14 92546395 92546395 single base substitution T A intron_variant BRCA-EU 14 92547117 92547117 single base substitution C A downstream_gene_variant BRCA-EU 14 92547117 92547117 single base substitution C A intron_variant BRCA-EU 14 92548587 92548587 single base substitution G A downstream_gene_variant BRCA-EU 14 92548587 92548587 single base substitution G A intron_variant BRCA-EU 14 92549671 92549671 single base substitution G T intron_variant BRCA-EU 14 92550996 92550996 single base substitution C G intron_variant BRCA-EU 14 92551544 92551544 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 92551544 92551544 deletion of <=200bp T - intron_variant BRCA-EU 14 92551569 92551569 single base substitution C T downstream_gene_variant BRCA-EU 14 92551569 92551569 single base substitution C T intron_variant BRCA-EU 14 92556915 92556915 single base substitution G A downstream_gene_variant BRCA-EU 14 92556915 92556915 single base substitution G A intron_variant BRCA-EU 14 92557936 92557936 single base substitution A G downstream_gene_variant BRCA-EU 14 92557936 92557936 single base substitution A G intron_variant BRCA-EU 14 92558960 92558960 single base substitution C G downstream_gene_variant BRCA-EU 14 92558960 92558960 single base substitution C G intron_variant BRCA-EU 14 92560634 92560634 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 92560634 92560634 deletion of <=200bp A - intron_variant BRCA-EU 14 92560634 92560634 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 92560726 92560726 single base substitution C G downstream_gene_variant BRCA-EU 14 92560726 92560726 single base substitution C G intron_variant BRCA-EU 14 92560726 92560726 single base substitution C G upstream_gene_variant BRCA-EU 14 92561735 92561735 single base substitution G A downstream_gene_variant BRCA-EU 14 92561735 92561735 single base substitution G A intron_variant BRCA-EU 14 92561735 92561735 single base substitution G A upstream_gene_variant BRCA-EU 14 92562648 92562648 single base substitution C G exon_variant BRCA-EU 14 92562648 92562648 single base substitution C G intron_variant BRCA-EU 14 92562648 92562648 single base substitution C G upstream_gene_variant BRCA-EU 14 92563453 92563453 single base substitution C G intron_variant BRCA-EU 14 92563453 92563453 single base substitution C G upstream_gene_variant BRCA-EU 14 92565230 92565230 single base substitution C T intron_variant BRCA-EU 14 92565230 92565230 single base substitution C T upstream_gene_variant BRCA-EU 14 92565796 92565796 single base substitution G T intron_variant BRCA-EU 14 92565796 92565796 single base substitution G T upstream_gene_variant BRCA-EU 14 92566083 92566083 single base substitution G A intron_variant BRCA-EU 14 92566083 92566083 single base substitution G A upstream_gene_variant BRCA-EU 14 92566371 92566371 single base substitution A C intron_variant BRCA-EU 14 92566371 92566371 single base substitution A C upstream_gene_variant BRCA-EU 14 92568189 92568189 single base substitution G A intron_variant BRCA-EU 14 92568489 92568489 single base substitution C G intron_variant BRCA-EU 14 92569059 92569059 single base substitution C T intron_variant BRCA-EU 14 92570601 92570601 single base substitution C T intron_variant BRCA-EU 14 92574058 92574058 single base substitution T C upstream_gene_variant BRCA-EU 14 92576136 92576136 single base substitution G A upstream_gene_variant BRCA-EU 14 92577668 92577668 single base substitution C G upstream_gene_variant BRCA-EU 14 92577795 92577795 single base substitution C G upstream_gene_variant BRCA-FR 14 92538140 92538140 single base substitution C G intron_variant BRCA-FR 14 92547117 92547117 single base substitution C A downstream_gene_variant BRCA-FR 14 92547117 92547117 single base substitution C A intron_variant BRCA-FR 14 92551569 92551569 single base substitution C T downstream_gene_variant BRCA-FR 14 92551569 92551569 single base substitution C T intron_variant BRCA-UK 14 92529523 92529523 single base substitution C T 3_prime_UTR_variant BRCA-UK 14 92529523 92529523 single base substitution C T downstream_gene_variant BRCA-UK 14 92529523 92529523 single base substitution C T intron_variant BRCA-UK 14 92537981 92537981 single base substitution C T intron_variant BRCA-UK 14 92546261 92546261 single base substitution T C downstream_gene_variant BRCA-UK 14 92546261 92546261 single base substitution T C intron_variant BRCA-UK 14 92555391 92555391 single base substitution C T downstream_gene_variant BRCA-UK 14 92555391 92555391 single base substitution C T intron_variant BRCA-UK 14 92567206 92567206 single base substitution C T intron_variant BRCA-UK 14 92567206 92567206 single base substitution C T upstream_gene_variant BRCA-US 14 92548745 92548745 single base substitution T G 3_prime_UTR_variant BRCA-US 14 92548745 92548745 single base substitution T G exon_variant BRCA-US 14 92548745 92548745 single base substitution T G intron_variant BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D119A 356A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D127A 380A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D155A 464A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D159A 476A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D170A 509A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D174A 521A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D180A 539A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D210A 629A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D224A 671A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D225A 674A>C BRCA-US 14 92548745 92548745 single base substitution T G missense_variant D46A 137A>C BRCA-US 14 92562444 92562444 single base substitution G A downstream_gene_variant BRCA-US 14 92562444 92562444 single base substitution G A exon_variant BRCA-US 14 92562444 92562444 single base substitution G A intron_variant BRCA-US 14 92562444 92562444 single base substitution G A missense_variant S21F 62C>T BRCA-US 14 92562444 92562444 single base substitution G A missense_variant S68F 203C>T BRCA-US 14 92562444 92562444 single base substitution G A missense_variant S75F 224C>T BRCA-US 14 92562444 92562444 single base substitution G A missense_variant S76F 227C>T BRCA-US 14 92562444 92562444 single base substitution G A synonymous_variant L7L 19C>T BRCA-US 14 92562444 92562444 single base substitution G A upstream_gene_variant BRCA-US 14 92563069 92563069 single base substitution C G exon_variant BRCA-US 14 92563069 92563069 single base substitution C G intron_variant BRCA-US 14 92563069 92563069 single base substitution C G missense_variant M38I 114G>C BRCA-US 14 92563069 92563069 single base substitution C G missense_variant M46I 138G>C BRCA-US 14 92563069 92563069 single base substitution C G upstream_gene_variant BTCA-JP 14 92530650 92530650 single base substitution A G 3_prime_UTR_variant BTCA-JP 14 92530650 92530650 single base substitution A G intron_variant BTCA-JP 14 92530802 92530802 single base substitution T A intron_variant BTCA-JP 14 92548773 92548773 single base substitution T G 3_prime_UTR_variant BTCA-JP 14 92548773 92548773 single base substitution T G exon_variant BTCA-JP 14 92548773 92548773 single base substitution T G intron_variant BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N110H 328A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N118H 352A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N146H 436A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N150H 448A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N161H 481A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N165H 493A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N171H 511A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N201H 601A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N215H 643A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N216H 646A>C BTCA-JP 14 92548773 92548773 single base substitution T G missense_variant N37H 109A>C BTCA-JP 14 92549939 92549939 single base substitution G A intron_variant CESC-US 14 92555077 92555077 single base substitution C T 3_prime_UTR_variant CESC-US 14 92555077 92555077 single base substitution C T 5_prime_UTR_variant CESC-US 14 92555077 92555077 single base substitution C T downstream_gene_variant CESC-US 14 92555077 92555077 single base substitution C T exon_variant CESC-US 14 92555077 92555077 single base substitution C T intron_variant CESC-US 14 92555077 92555077 single base substitution C T missense_variant E103K 307G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E107K 319G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E143K 427G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E157K 469G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E158K 472G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E52K 154G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E60K 178G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E88K 262G>A CESC-US 14 92555077 92555077 single base substitution C T missense_variant E92K 274G>A CLLE-ES 14 92529108 92529108 single base substitution A G 3_prime_UTR_variant CLLE-ES 14 92529108 92529108 single base substitution A G downstream_gene_variant CLLE-ES 14 92529108 92529108 single base substitution A G intron_variant CLLE-ES 14 92536914 92536914 single base substitution C G downstream_gene_variant CLLE-ES 14 92536914 92536914 single base substitution C G intron_variant CLLE-ES 14 92537025 92537025 single base substitution C T downstream_gene_variant CLLE-ES 14 92537025 92537025 single base substitution C T intron_variant CLLE-ES 14 92542746 92542746 single base substitution C A downstream_gene_variant CLLE-ES 14 92542746 92542746 single base substitution C A intron_variant CLLE-ES 14 92575294 92575294 single base substitution A G upstream_gene_variant COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG 3_prime_UTR_variant COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG 3_prime_UTR_variant COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG exon_variant COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G127AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G200AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G208AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G236AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G251AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G255AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G291AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G299AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G305AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G306AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G315AAAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG intron_variant COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG exon_variant COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G127AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G200AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G208AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G236AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G251AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G255AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G291AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G299AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G305AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G306AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG inframe_insertion G315AAAAAAG COAD-US 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTG intron_variant COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT 3_prime_UTR_variant COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q122QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q195QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q203QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q231QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q246QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q250QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q286QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q294QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q300QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q301QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT disruptive_inframe_insertion Q310QAAAAAA COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT exon_variant COAD-US 14 92537368 92537368 insertion of <=200bp - GCTGCTGCTGCTGCTGCT intron_variant COAD-US 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant COAD-US 14 92537379 92537379 single base substitution T C exon_variant COAD-US 14 92537379 92537379 single base substitution T C intron_variant COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G COAD-US 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G COAD-US 14 92537387 92537387 single base substitution T G 3_prime_UTR_variant COAD-US 14 92537387 92537387 single base substitution T G exon_variant COAD-US 14 92537387 92537387 single base substitution T G intron_variant COAD-US 14 92537387 92537387 single base substitution T G missense_variant K116Q 346A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K189Q 565A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K197Q 589A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K225Q 673A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K240Q 718A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K244Q 730A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K280Q 838A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K288Q 862A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K294Q 880A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K295Q 883A>C COAD-US 14 92537387 92537387 single base substitution T G missense_variant K304Q 910A>C COAD-US 14 92548704 92548704 single base substitution C A 3_prime_UTR_variant COAD-US 14 92548704 92548704 single base substitution C A exon_variant COAD-US 14 92548704 92548704 single base substitution C A intron_variant COAD-US 14 92548704 92548704 single base substitution C A stop_gained E133* 397G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E141* 421G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E169* 505G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E173* 517G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E184* 550G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E188* 562G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E194* 580G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E224* 670G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E238* 712G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E239* 715G>T COAD-US 14 92548704 92548704 single base substitution C A stop_gained E60* 178G>T COAD-US 14 92548785 92548785 single base substitution C T 3_prime_UTR_variant COAD-US 14 92548785 92548785 single base substitution C T exon_variant COAD-US 14 92548785 92548785 single base substitution C T intron_variant COAD-US 14 92548785 92548785 single base substitution C T missense_variant V106M 316G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V114M 340G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V142M 424G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V146M 436G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V157M 469G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V161M 481G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V167M 499G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V197M 589G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V211M 631G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V212M 634G>A COAD-US 14 92548785 92548785 single base substitution C T missense_variant V33M 97G>A COAD-US 14 92549503 92549503 single base substitution A T 3_prime_UTR_variant COAD-US 14 92549503 92549503 single base substitution A T exon_variant COAD-US 14 92549503 92549503 single base substitution A T intron_variant COAD-US 14 92549503 92549503 single base substitution A T missense_variant I122N 365T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I126N 377T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I137N 410T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I13N 38T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I141N 422T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I147N 440T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I177N 530T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I191N 572T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I192N 575T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I86N 257T>A COAD-US 14 92549503 92549503 single base substitution A T missense_variant I94N 281T>A COAD-US 14 92549562 92549562 single base substitution G A 3_prime_UTR_variant COAD-US 14 92549562 92549562 single base substitution G A 5_prime_UTR_variant COAD-US 14 92549562 92549562 single base substitution G A exon_variant COAD-US 14 92549562 92549562 single base substitution G A intron_variant COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C102C 306C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C106C 318C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C117C 351C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C121C 363C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C127C 381C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C157C 471C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C171C 513C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C172C 516C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C66C 198C>T COAD-US 14 92549562 92549562 single base substitution G A synonymous_variant C74C 222C>T COAD-US 14 92549605 92549605 deletion of <=200bp A - intron_variant COAD-US 14 92549605 92549605 deletion of <=200bp A - splice_region_variant COAD-US 14 92549605 92549606 deletion of <=200bp AA - intron_variant COAD-US 14 92549605 92549606 deletion of <=200bp AA - splice_region_variant COAD-US 14 92560103 92560103 single base substitution T C downstream_gene_variant COAD-US 14 92560103 92560103 single base substitution T C exon_variant COAD-US 14 92560103 92560103 single base substitution T C intron_variant COAD-US 14 92560103 92560103 single base substitution T C missense_variant R102G 304A>G COAD-US 14 92560103 92560103 single base substitution T C missense_variant R103G 307A>G COAD-US 14 92560103 92560103 single base substitution T C missense_variant R33G 97A>G COAD-US 14 92560103 92560103 single base substitution T C missense_variant R48G 142A>G COAD-US 14 92560103 92560103 single base substitution T C missense_variant R88G 262A>G COAD-US 14 92560103 92560103 single base substitution T C missense_variant R95G 283A>G COAD-US 14 92560103 92560103 single base substitution T C upstream_gene_variant COCA-CN 14 92522292 92522292 single base substitution G A downstream_gene_variant COCA-CN 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant COCA-CN 14 92537379 92537379 single base substitution T C exon_variant COCA-CN 14 92537379 92537379 single base substitution T C intron_variant COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G COCA-CN 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G COCA-CN 14 92562986 92562986 single base substitution G A exon_variant COCA-CN 14 92562986 92562986 single base substitution G A intron_variant COCA-CN 14 92562986 92562986 single base substitution G A upstream_gene_variant COCA-CN 14 92563198 92563198 single base substitution G T intron_variant COCA-CN 14 92563198 92563198 single base substitution G T upstream_gene_variant COCA-CN 14 92563248 92563248 single base substitution T C intron_variant COCA-CN 14 92563248 92563248 single base substitution T C upstream_gene_variant EOPC-DE 14 92530547 92530547 single base substitution A G 3_prime_UTR_variant EOPC-DE 14 92530547 92530547 single base substitution A G intron_variant ESAD-UK 14 92521180 92521180 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 92522236 92522236 single base substitution C T downstream_gene_variant ESAD-UK 14 92524219 92524220 deletion of <=200bp TC - downstream_gene_variant ESAD-UK 14 92524976 92524976 single base substitution A T 3_prime_UTR_variant ESAD-UK 14 92524976 92524976 single base substitution A T downstream_gene_variant ESAD-UK 14 92524976 92524976 single base substitution A T exon_variant ESAD-UK 14 92526488 92526488 single base substitution G T 3_prime_UTR_variant ESAD-UK 14 92526488 92526488 single base substitution G T downstream_gene_variant ESAD-UK 14 92526488 92526488 single base substitution G T intron_variant ESAD-UK 14 92528458 92528458 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 92528458 92528458 single base substitution G A downstream_gene_variant ESAD-UK 14 92528458 92528458 single base substitution G A intron_variant ESAD-UK 14 92533494 92533494 single base substitution C G downstream_gene_variant ESAD-UK 14 92533494 92533494 single base substitution C G intron_variant ESAD-UK 14 92536440 92536440 single base substitution T C downstream_gene_variant ESAD-UK 14 92536440 92536440 single base substitution T C intron_variant ESAD-UK 14 92537484 92537484 single base substitution A G intron_variant ESAD-UK 14 92537941 92537941 single base substitution A C intron_variant ESAD-UK 14 92539095 92539095 single base substitution T G intron_variant ESAD-UK 14 92540767 92540767 single base substitution C T intron_variant ESAD-UK 14 92541370 92541370 single base substitution C T intron_variant ESAD-UK 14 92543783 92543783 single base substitution C T downstream_gene_variant ESAD-UK 14 92543783 92543783 single base substitution C T intron_variant ESAD-UK 14 92543784 92543784 single base substitution G A downstream_gene_variant ESAD-UK 14 92543784 92543784 single base substitution G A intron_variant ESAD-UK 14 92546710 92546710 deletion of <=200bp C - downstream_gene_variant ESAD-UK 14 92546710 92546710 deletion of <=200bp C - intron_variant ESAD-UK 14 92549253 92549253 single base substitution C T intron_variant ESAD-UK 14 92552355 92552355 single base substitution G T downstream_gene_variant ESAD-UK 14 92552355 92552355 single base substitution G T intron_variant ESAD-UK 14 92554042 92554042 single base substitution G T downstream_gene_variant ESAD-UK 14 92554042 92554042 single base substitution G T intron_variant ESAD-UK 14 92554921 92554921 single base substitution C T downstream_gene_variant ESAD-UK 14 92554921 92554921 single base substitution C T intron_variant ESAD-UK 14 92555136 92555136 single base substitution G C 3_prime_UTR_variant ESAD-UK 14 92555136 92555136 single base substitution G C 5_prime_UTR_variant ESAD-UK 14 92555136 92555136 single base substitution G C downstream_gene_variant ESAD-UK 14 92555136 92555136 single base substitution G C exon_variant ESAD-UK 14 92555136 92555136 single base substitution G C intron_variant ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T123R 368C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T137R 410C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T138R 413C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T32R 95C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T40R 119C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T68R 203C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T72R 215C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T83R 248C>G ESAD-UK 14 92555136 92555136 single base substitution G C missense_variant T87R 260C>G ESAD-UK 14 92557977 92557977 single base substitution T A downstream_gene_variant ESAD-UK 14 92557977 92557977 single base substitution T A intron_variant ESAD-UK 14 92559128 92559129 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 14 92559128 92559129 deletion of <=200bp AC - intron_variant ESAD-UK 14 92560615 92560615 single base substitution G C downstream_gene_variant ESAD-UK 14 92560615 92560615 single base substitution G C intron_variant ESAD-UK 14 92560615 92560615 single base substitution G C upstream_gene_variant ESAD-UK 14 92561553 92561553 single base substitution T C downstream_gene_variant ESAD-UK 14 92561553 92561553 single base substitution T C intron_variant ESAD-UK 14 92561553 92561553 single base substitution T C upstream_gene_variant ESAD-UK 14 92562353 92562353 single base substitution C G downstream_gene_variant ESAD-UK 14 92562353 92562353 single base substitution C G intron_variant ESAD-UK 14 92562353 92562353 single base substitution C G upstream_gene_variant ESAD-UK 14 92568390 92568390 single base substitution G A intron_variant ESAD-UK 14 92571781 92571781 single base substitution T A intron_variant ESAD-UK 14 92573619 92573619 single base substitution C A upstream_gene_variant ESAD-UK 14 92574864 92574864 single base substitution T A upstream_gene_variant ESCA-CN 14 92537387 92537387 single base substitution T G 3_prime_UTR_variant ESCA-CN 14 92537387 92537387 single base substitution T G exon_variant ESCA-CN 14 92537387 92537387 single base substitution T G intron_variant ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K116Q 346A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K189Q 565A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K197Q 589A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K225Q 673A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K240Q 718A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K244Q 730A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K280Q 838A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K288Q 862A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K294Q 880A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K295Q 883A>C ESCA-CN 14 92537387 92537387 single base substitution T G missense_variant K304Q 910A>C ESCA-CN 14 92572974 92572974 single base substitution A C upstream_gene_variant KIRC-US 14 92537387 92537387 single base substitution T G 3_prime_UTR_variant KIRC-US 14 92537387 92537387 single base substitution T G exon_variant KIRC-US 14 92537387 92537387 single base substitution T G intron_variant KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K116Q 346A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K189Q 565A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K197Q 589A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K225Q 673A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K240Q 718A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K244Q 730A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K280Q 838A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K288Q 862A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K294Q 880A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K295Q 883A>C KIRC-US 14 92537387 92537387 single base substitution T G missense_variant K304Q 910A>C KIRC-US 14 92537388 92537388 single base substitution T C 3_prime_UTR_variant KIRC-US 14 92537388 92537388 single base substitution T C exon_variant KIRC-US 14 92537388 92537388 single base substitution T C intron_variant KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q115Q 345A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q188Q 564A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q196Q 588A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q224Q 672A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q239Q 717A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q243Q 729A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q279Q 837A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q287Q 861A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q293Q 879A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q294Q 882A>G KIRC-US 14 92537388 92537388 single base substitution T C synonymous_variant Q303Q 909A>G KIRP-US 14 92549507 92549507 single base substitution G C 3_prime_UTR_variant KIRP-US 14 92549507 92549507 single base substitution G C exon_variant KIRP-US 14 92549507 92549507 single base substitution G C intron_variant KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L121V 361C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L125V 373C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L12V 34C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L136V 406C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L140V 418C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L146V 436C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L176V 526C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L190V 568C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L191V 571C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L85V 253C>G KIRP-US 14 92549507 92549507 single base substitution G C missense_variant L93V 277C>G LAML-KR 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant LAML-KR 14 92537379 92537379 single base substitution T C exon_variant LAML-KR 14 92537379 92537379 single base substitution T C intron_variant LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G LAML-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G LAML-KR 14 92549632 92549632 single base substitution C A intron_variant LAML-KR 14 92560008 92560008 single base substitution G A downstream_gene_variant LAML-KR 14 92560008 92560008 single base substitution G A exon_variant LAML-KR 14 92560008 92560008 single base substitution G A intron_variant LAML-KR 14 92560008 92560008 single base substitution G A upstream_gene_variant LAML-KR 14 92562986 92562986 single base substitution G A exon_variant LAML-KR 14 92562986 92562986 single base substitution G A intron_variant LAML-KR 14 92562986 92562986 single base substitution G A upstream_gene_variant LICA-FR 14 92520064 92520064 single base substitution A C downstream_gene_variant LICA-FR 14 92532435 92532435 deletion of <=200bp A - downstream_gene_variant LICA-FR 14 92532435 92532435 deletion of <=200bp A - intron_variant LICA-FR 14 92537089 92537089 deletion of <=200bp T - 3_prime_UTR_variant LICA-FR 14 92537089 92537089 deletion of <=200bp T - downstream_gene_variant LICA-FR 14 92537089 92537089 deletion of <=200bp T - intron_variant LICA-FR 14 92557291 92557291 deletion of <=200bp T - downstream_gene_variant LICA-FR 14 92557291 92557291 deletion of <=200bp T - intron_variant LICA-FR 14 92566111 92566111 single base substitution T A intron_variant LICA-FR 14 92566111 92566111 single base substitution T A upstream_gene_variant LICA-FR 14 92568713 92568713 single base substitution G T intron_variant LICA-FR 14 92569455 92569455 deletion of <=200bp A - intron_variant LICA-FR 14 92571586 92571586 single base substitution C A intron_variant LICA-FR 14 92577474 92577474 single base substitution T C upstream_gene_variant LIHC-US 14 92548653 92548653 single base substitution T G 3_prime_UTR_variant LIHC-US 14 92548653 92548653 single base substitution T G downstream_gene_variant LIHC-US 14 92548653 92548653 single base substitution T G exon_variant LIHC-US 14 92548653 92548653 single base substitution T G intron_variant LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S150R 448A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S158R 472A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S186R 556A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S190R 568A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S201R 601A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S205R 613A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S241R 721A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S255R 763A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S256R 766A>C LIHC-US 14 92548653 92548653 single base substitution T G missense_variant S77R 229A>C LINC-JP 14 92526034 92526034 single base substitution T G 3_prime_UTR_variant LINC-JP 14 92526034 92526034 single base substitution T G downstream_gene_variant LINC-JP 14 92526034 92526034 single base substitution T G intron_variant LINC-JP 14 92529634 92529634 single base substitution T C 3_prime_UTR_variant LINC-JP 14 92529634 92529634 single base substitution T C downstream_gene_variant LINC-JP 14 92529634 92529634 single base substitution T C intron_variant LINC-JP 14 92542072 92542072 single base substitution C T intron_variant LINC-JP 14 92558474 92558474 single base substitution T A downstream_gene_variant LINC-JP 14 92558474 92558474 single base substitution T A intron_variant LINC-JP 14 92558492 92558492 single base substitution T C downstream_gene_variant LINC-JP 14 92558492 92558492 single base substitution T C intron_variant LINC-JP 14 92558802 92558802 single base substitution C T downstream_gene_variant LINC-JP 14 92558802 92558802 single base substitution C T intron_variant LINC-JP 14 92559720 92559720 single base substitution T C downstream_gene_variant LINC-JP 14 92559720 92559720 single base substitution T C intron_variant LINC-JP 14 92559720 92559720 single base substitution T C upstream_gene_variant LIRI-JP 14 92520424 92520424 single base substitution G A downstream_gene_variant LIRI-JP 14 92521114 92521114 single base substitution C T downstream_gene_variant LIRI-JP 14 92525976 92525976 single base substitution C A 3_prime_UTR_variant LIRI-JP 14 92525976 92525976 single base substitution C A downstream_gene_variant LIRI-JP 14 92525976 92525976 single base substitution C A intron_variant LIRI-JP 14 92526145 92526145 single base substitution G C 3_prime_UTR_variant LIRI-JP 14 92526145 92526145 single base substitution G C downstream_gene_variant LIRI-JP 14 92526145 92526145 single base substitution G C intron_variant LIRI-JP 14 92526967 92526967 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 92526967 92526967 single base substitution T C downstream_gene_variant LIRI-JP 14 92526967 92526967 single base substitution T C intron_variant LIRI-JP 14 92527620 92527620 single base substitution A T 3_prime_UTR_variant LIRI-JP 14 92527620 92527620 single base substitution A T downstream_gene_variant LIRI-JP 14 92527620 92527620 single base substitution A T intron_variant LIRI-JP 14 92527664 92527664 single base substitution A C 3_prime_UTR_variant LIRI-JP 14 92527664 92527664 single base substitution A C downstream_gene_variant LIRI-JP 14 92527664 92527664 single base substitution A C intron_variant LIRI-JP 14 92530619 92530619 single base substitution G C 3_prime_UTR_variant LIRI-JP 14 92530619 92530619 single base substitution G C intron_variant LIRI-JP 14 92530662 92530662 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 92530662 92530662 single base substitution T C intron_variant LIRI-JP 14 92533092 92533092 single base substitution T C downstream_gene_variant LIRI-JP 14 92533092 92533092 single base substitution T C intron_variant LIRI-JP 14 92533520 92533520 single base substitution A G downstream_gene_variant LIRI-JP 14 92533520 92533520 single base substitution A G intron_variant LIRI-JP 14 92533948 92533948 single base substitution C T downstream_gene_variant LIRI-JP 14 92533948 92533948 single base substitution C T intron_variant LIRI-JP 14 92535060 92535060 single base substitution A C downstream_gene_variant LIRI-JP 14 92535060 92535060 single base substitution A C intron_variant LIRI-JP 14 92535163 92535163 single base substitution A G downstream_gene_variant LIRI-JP 14 92535163 92535163 single base substitution A G intron_variant LIRI-JP 14 92535444 92535444 single base substitution A T downstream_gene_variant LIRI-JP 14 92535444 92535444 single base substitution A T intron_variant LIRI-JP 14 92537732 92537732 single base substitution A G intron_variant LIRI-JP 14 92543071 92543071 single base substitution C T downstream_gene_variant LIRI-JP 14 92543071 92543071 single base substitution C T intron_variant LIRI-JP 14 92545686 92545686 single base substitution A G downstream_gene_variant LIRI-JP 14 92545686 92545686 single base substitution A G intron_variant LIRI-JP 14 92547044 92547044 single base substitution A T downstream_gene_variant LIRI-JP 14 92547044 92547044 single base substitution A T intron_variant LIRI-JP 14 92548338 92548338 single base substitution C T downstream_gene_variant LIRI-JP 14 92548338 92548338 single base substitution C T intron_variant LIRI-JP 14 92549895 92549895 single base substitution T C intron_variant LIRI-JP 14 92550817 92550817 single base substitution T C intron_variant LIRI-JP 14 92551003 92551003 single base substitution C A intron_variant LIRI-JP 14 92551593 92551593 single base substitution T C downstream_gene_variant LIRI-JP 14 92551593 92551593 single base substitution T C intron_variant LIRI-JP 14 92554401 92554401 single base substitution T C downstream_gene_variant LIRI-JP 14 92554401 92554401 single base substitution T C intron_variant LIRI-JP 14 92555606 92555606 single base substitution G A downstream_gene_variant LIRI-JP 14 92555606 92555606 single base substitution G A intron_variant LIRI-JP 14 92560342 92560342 single base substitution T G downstream_gene_variant LIRI-JP 14 92560342 92560342 single base substitution T G intron_variant LIRI-JP 14 92560342 92560342 single base substitution T G upstream_gene_variant LIRI-JP 14 92561613 92561613 single base substitution G A downstream_gene_variant LIRI-JP 14 92561613 92561613 single base substitution G A intron_variant LIRI-JP 14 92561613 92561613 single base substitution G A upstream_gene_variant LIRI-JP 14 92561725 92561725 single base substitution T C downstream_gene_variant LIRI-JP 14 92561725 92561725 single base substitution T C intron_variant LIRI-JP 14 92561725 92561725 single base substitution T C upstream_gene_variant LIRI-JP 14 92562154 92562154 single base substitution C T downstream_gene_variant LIRI-JP 14 92562154 92562154 single base substitution C T intron_variant LIRI-JP 14 92562154 92562154 single base substitution C T upstream_gene_variant LIRI-JP 14 92563169 92563169 single base substitution A G exon_variant LIRI-JP 14 92563169 92563169 single base substitution A G intron_variant LIRI-JP 14 92563169 92563169 single base substitution A G missense_variant L13P 38T>C LIRI-JP 14 92563169 92563169 single base substitution A G missense_variant L5P 14T>C LIRI-JP 14 92563169 92563169 single base substitution A G upstream_gene_variant LIRI-JP 14 92564329 92564329 single base substitution A T intron_variant LIRI-JP 14 92564329 92564329 single base substitution A T upstream_gene_variant LIRI-JP 14 92564351 92564351 single base substitution T A intron_variant LIRI-JP 14 92564351 92564351 single base substitution T A upstream_gene_variant LIRI-JP 14 92564647 92564647 single base substitution G T intron_variant LIRI-JP 14 92564647 92564647 single base substitution G T upstream_gene_variant LIRI-JP 14 92565517 92565517 single base substitution T C intron_variant LIRI-JP 14 92565517 92565517 single base substitution T C upstream_gene_variant LIRI-JP 14 92566988 92566988 single base substitution C A intron_variant LIRI-JP 14 92566988 92566988 single base substitution C A upstream_gene_variant LIRI-JP 14 92567828 92567828 single base substitution T G intron_variant LIRI-JP 14 92567828 92567828 single base substitution T G upstream_gene_variant LIRI-JP 14 92568676 92568676 single base substitution T C intron_variant LIRI-JP 14 92570241 92570241 single base substitution T C intron_variant LIRI-JP 14 92572025 92572025 single base substitution G T intron_variant LIRI-JP 14 92572321 92572321 single base substitution G A intron_variant LIRI-JP 14 92573714 92573714 single base substitution A G upstream_gene_variant LIRI-JP 14 92574954 92574954 single base substitution G A upstream_gene_variant LIRI-JP 14 92576027 92576027 single base substitution A T upstream_gene_variant LIRI-JP 14 92577880 92577880 single base substitution T C upstream_gene_variant LUSC-KR 14 92532161 92532161 single base substitution G A downstream_gene_variant LUSC-KR 14 92532161 92532161 single base substitution G A intron_variant LUSC-KR 14 92532732 92532732 single base substitution C G downstream_gene_variant LUSC-KR 14 92532732 92532732 single base substitution C G intron_variant LUSC-KR 14 92533224 92533224 single base substitution C G downstream_gene_variant LUSC-KR 14 92533224 92533224 single base substitution C G intron_variant LUSC-KR 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant LUSC-KR 14 92537379 92537379 single base substitution T C exon_variant LUSC-KR 14 92537379 92537379 single base substitution T C intron_variant LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G LUSC-KR 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G LUSC-KR 14 92555477 92555477 single base substitution C G downstream_gene_variant LUSC-KR 14 92555477 92555477 single base substitution C G intron_variant LUSC-KR 14 92561132 92561132 single base substitution C T downstream_gene_variant LUSC-KR 14 92561132 92561132 single base substitution C T intron_variant LUSC-KR 14 92561132 92561132 single base substitution C T upstream_gene_variant LUSC-KR 14 92563720 92563720 single base substitution C A intron_variant LUSC-KR 14 92563720 92563720 single base substitution C A upstream_gene_variant LUSC-KR 14 92564440 92564440 single base substitution G A intron_variant LUSC-KR 14 92564440 92564440 single base substitution G A upstream_gene_variant LUSC-KR 14 92567234 92567234 single base substitution C G intron_variant LUSC-KR 14 92567234 92567234 single base substitution C G upstream_gene_variant LUSC-KR 14 92574095 92574095 single base substitution C T upstream_gene_variant LUSC-KR 14 92575755 92575755 single base substitution C A upstream_gene_variant LUSC-US 14 92530748 92530748 single base substitution C A 3_prime_UTR_variant LUSC-US 14 92530748 92530748 single base substitution C A intron_variant LUSC-US 14 92530748 92530748 single base substitution C A missense_variant M155I 465G>T LUSC-US 14 92530748 92530748 single base substitution C A missense_variant M279I 837G>T LUSC-US 14 92530748 92530748 single base substitution C A missense_variant M319I 957G>T LUSC-US 14 92530748 92530748 single base substitution C A missense_variant M327I 981G>T LUSC-US 14 92530748 92530748 single base substitution C A missense_variant M334I 1002G>T LUSC-US 14 92530748 92530748 single base substitution C A missense_variant M343I 1029G>T LUSC-US 14 92548666 92548666 single base substitution C A 3_prime_UTR_variant LUSC-US 14 92548666 92548666 single base substitution C A downstream_gene_variant LUSC-US 14 92548666 92548666 single base substitution C A exon_variant LUSC-US 14 92548666 92548666 single base substitution C A intron_variant LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R145S 435G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R153S 459G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R181S 543G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R185S 555G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R196S 588G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R200S 600G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R236S 708G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R250S 750G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R251S 753G>T LUSC-US 14 92548666 92548666 single base substitution C A missense_variant R72S 216G>T LUSC-US 14 92549498 92549498 single base substitution C A 3_prime_UTR_variant LUSC-US 14 92549498 92549498 single base substitution C A exon_variant LUSC-US 14 92549498 92549498 single base substitution C A intron_variant LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E124* 370G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E128* 382G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E139* 415G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E143* 427G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E149* 445G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E15* 43G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E179* 535G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E193* 577G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E194* 580G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E88* 262G>T LUSC-US 14 92549498 92549498 single base substitution C A stop_gained E96* 286G>T LUSC-US 14 92555162 92555162 single base substitution C T downstream_gene_variant LUSC-US 14 92555162 92555162 single base substitution C T intron_variant LUSC-US 14 92555162 92555162 single base substitution C T splice_acceptor_variant LUSC-US 14 92563086 92563086 single base substitution C G exon_variant LUSC-US 14 92563086 92563086 single base substitution C G intron_variant LUSC-US 14 92563086 92563086 single base substitution C G missense_variant D33H 97G>C LUSC-US 14 92563086 92563086 single base substitution C G missense_variant D41H 121G>C LUSC-US 14 92563086 92563086 single base substitution C G upstream_gene_variant MALY-DE 14 92523757 92523757 insertion of <=200bp - AAC downstream_gene_variant MALY-DE 14 92532728 92532728 single base substitution A T downstream_gene_variant MALY-DE 14 92532728 92532728 single base substitution A T intron_variant MALY-DE 14 92533138 92533138 single base substitution G A downstream_gene_variant MALY-DE 14 92533138 92533138 single base substitution G A intron_variant MALY-DE 14 92535633 92535633 single base substitution T C downstream_gene_variant MALY-DE 14 92535633 92535633 single base substitution T C intron_variant MALY-DE 14 92538909 92538909 single base substitution A C intron_variant MALY-DE 14 92542965 92542965 single base substitution C T downstream_gene_variant MALY-DE 14 92542965 92542965 single base substitution C T intron_variant MALY-DE 14 92543325 92543325 single base substitution A C downstream_gene_variant MALY-DE 14 92543325 92543325 single base substitution A C intron_variant MALY-DE 14 92543509 92543509 single base substitution C T downstream_gene_variant MALY-DE 14 92543509 92543509 single base substitution C T intron_variant MALY-DE 14 92545959 92545959 single base substitution C G downstream_gene_variant MALY-DE 14 92545959 92545959 single base substitution C G intron_variant MALY-DE 14 92548198 92548198 single base substitution T G downstream_gene_variant MALY-DE 14 92548198 92548198 single base substitution T G intron_variant MALY-DE 14 92551441 92551441 single base substitution T G intron_variant MALY-DE 14 92555166 92555166 single base substitution A G downstream_gene_variant MALY-DE 14 92555166 92555166 single base substitution A G intron_variant MALY-DE 14 92555166 92555166 single base substitution A G splice_region_variant MALY-DE 14 92558212 92558212 single base substitution T A downstream_gene_variant MALY-DE 14 92558212 92558212 single base substitution T A intron_variant MALY-DE 14 92575638 92575638 single base substitution C T upstream_gene_variant MALY-DE 14 92577486 92577486 single base substitution C T upstream_gene_variant MELA-AU 14 92520040 92520040 single base substitution C T downstream_gene_variant MELA-AU 14 92521703 92521703 single base substitution C G downstream_gene_variant MELA-AU 14 92521731 92521731 single base substitution A G downstream_gene_variant MELA-AU 14 92521861 92521861 single base substitution C T downstream_gene_variant MELA-AU 14 92521922 92521922 single base substitution C T downstream_gene_variant MELA-AU 14 92522094 92522094 single base substitution C T downstream_gene_variant MELA-AU 14 92522816 92522816 single base substitution G A downstream_gene_variant MELA-AU 14 92523410 92523410 single base substitution G T downstream_gene_variant MELA-AU 14 92523544 92523544 single base substitution G A downstream_gene_variant MELA-AU 14 92523757 92523757 insertion of <=200bp - AAC downstream_gene_variant MELA-AU 14 92524892 92524892 single base substitution G A downstream_gene_variant MELA-AU 14 92525317 92525317 single base substitution C T 3_prime_UTR_variant MELA-AU 14 92525317 92525317 single base substitution C T downstream_gene_variant MELA-AU 14 92525317 92525317 single base substitution C T intron_variant MELA-AU 14 92527647 92527648 multiple base substitution (>=2bp and <=200bp) CC TA 3_prime_UTR_variant MELA-AU 14 92527647 92527648 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 14 92527647 92527648 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 14 92527663 92527663 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92527663 92527663 single base substitution G A downstream_gene_variant MELA-AU 14 92527663 92527663 single base substitution G A intron_variant MELA-AU 14 92528542 92528542 single base substitution A G 3_prime_UTR_variant MELA-AU 14 92528542 92528542 single base substitution A G downstream_gene_variant MELA-AU 14 92528542 92528542 single base substitution A G intron_variant MELA-AU 14 92529042 92529042 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92529042 92529042 single base substitution G A downstream_gene_variant MELA-AU 14 92529042 92529042 single base substitution G A intron_variant MELA-AU 14 92529083 92529083 single base substitution A G 3_prime_UTR_variant MELA-AU 14 92529083 92529083 single base substitution A G downstream_gene_variant MELA-AU 14 92529083 92529083 single base substitution A G intron_variant MELA-AU 14 92529328 92529328 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92529328 92529328 single base substitution G A downstream_gene_variant MELA-AU 14 92529328 92529328 single base substitution G A intron_variant MELA-AU 14 92529672 92529672 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92529672 92529672 single base substitution G A downstream_gene_variant MELA-AU 14 92529672 92529672 single base substitution G A intron_variant MELA-AU 14 92529729 92529729 single base substitution A T 3_prime_UTR_variant MELA-AU 14 92529729 92529729 single base substitution A T downstream_gene_variant MELA-AU 14 92529729 92529729 single base substitution A T intron_variant MELA-AU 14 92530562 92530562 single base substitution T A 3_prime_UTR_variant MELA-AU 14 92530562 92530562 single base substitution T A intron_variant MELA-AU 14 92530858 92530858 single base substitution G A intron_variant MELA-AU 14 92530871 92530871 single base substitution A G intron_variant MELA-AU 14 92531278 92531278 single base substitution T C intron_variant MELA-AU 14 92531486 92531486 single base substitution G A intron_variant MELA-AU 14 92532423 92532423 single base substitution G A downstream_gene_variant MELA-AU 14 92532423 92532423 single base substitution G A intron_variant MELA-AU 14 92532441 92532441 single base substitution A T downstream_gene_variant MELA-AU 14 92532441 92532441 single base substitution A T intron_variant MELA-AU 14 92532468 92532468 single base substitution G A downstream_gene_variant MELA-AU 14 92532468 92532468 single base substitution G A intron_variant MELA-AU 14 92532481 92532481 single base substitution G A downstream_gene_variant MELA-AU 14 92532481 92532481 single base substitution G A intron_variant MELA-AU 14 92533221 92533221 single base substitution C A downstream_gene_variant MELA-AU 14 92533221 92533221 single base substitution C A intron_variant MELA-AU 14 92534362 92534362 single base substitution G A downstream_gene_variant MELA-AU 14 92534362 92534362 single base substitution G A intron_variant MELA-AU 14 92534473 92534473 single base substitution G A downstream_gene_variant MELA-AU 14 92534473 92534473 single base substitution G A intron_variant MELA-AU 14 92534593 92534593 single base substitution G A downstream_gene_variant MELA-AU 14 92534593 92534593 single base substitution G A intron_variant MELA-AU 14 92534596 92534596 single base substitution G A downstream_gene_variant MELA-AU 14 92534596 92534596 single base substitution G A intron_variant MELA-AU 14 92534824 92534824 single base substitution G A downstream_gene_variant MELA-AU 14 92534824 92534824 single base substitution G A intron_variant MELA-AU 14 92535516 92535516 single base substitution G A downstream_gene_variant MELA-AU 14 92535516 92535516 single base substitution G A intron_variant MELA-AU 14 92535661 92535661 single base substitution A T downstream_gene_variant MELA-AU 14 92535661 92535661 single base substitution A T intron_variant MELA-AU 14 92536254 92536254 single base substitution C T downstream_gene_variant MELA-AU 14 92536254 92536254 single base substitution C T intron_variant MELA-AU 14 92536689 92536689 single base substitution C T downstream_gene_variant MELA-AU 14 92536689 92536689 single base substitution C T intron_variant MELA-AU 14 92536846 92536846 single base substitution C A downstream_gene_variant MELA-AU 14 92536846 92536846 single base substitution C A intron_variant MELA-AU 14 92536952 92536952 single base substitution G A downstream_gene_variant MELA-AU 14 92536952 92536952 single base substitution G A intron_variant MELA-AU 14 92537132 92537132 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92537132 92537132 single base substitution G A downstream_gene_variant MELA-AU 14 92537132 92537132 single base substitution G A intron_variant MELA-AU 14 92537158 92537158 single base substitution T C 3_prime_UTR_variant MELA-AU 14 92537158 92537158 single base substitution T C downstream_gene_variant MELA-AU 14 92537158 92537158 single base substitution T C intron_variant MELA-AU 14 92537327 92537327 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92537327 92537327 single base substitution G A exon_variant MELA-AU 14 92537327 92537327 single base substitution G A intron_variant MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P136S 406C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P209S 625C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P217S 649C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P245S 733C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P260S 778C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P264S 790C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P300S 898C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P308S 922C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P314S 940C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P315S 943C>T MELA-AU 14 92537327 92537327 single base substitution G A missense_variant P324S 970C>T MELA-AU 14 92537625 92537625 single base substitution G A intron_variant MELA-AU 14 92539083 92539083 single base substitution G C intron_variant MELA-AU 14 92540276 92540276 single base substitution G A intron_variant MELA-AU 14 92542829 92542829 single base substitution T A downstream_gene_variant MELA-AU 14 92542829 92542829 single base substitution T A intron_variant MELA-AU 14 92542830 92542830 single base substitution G A downstream_gene_variant MELA-AU 14 92542830 92542830 single base substitution G A intron_variant MELA-AU 14 92543422 92543422 single base substitution G A downstream_gene_variant MELA-AU 14 92543422 92543422 single base substitution G A intron_variant MELA-AU 14 92544092 92544092 single base substitution G A downstream_gene_variant MELA-AU 14 92544092 92544092 single base substitution G A intron_variant MELA-AU 14 92544697 92544697 single base substitution T A downstream_gene_variant MELA-AU 14 92544697 92544697 single base substitution T A intron_variant MELA-AU 14 92544711 92544711 single base substitution T C downstream_gene_variant MELA-AU 14 92544711 92544711 single base substitution T C intron_variant MELA-AU 14 92544989 92544989 single base substitution G A downstream_gene_variant MELA-AU 14 92544989 92544989 single base substitution G A intron_variant MELA-AU 14 92546268 92546268 single base substitution G A downstream_gene_variant MELA-AU 14 92546268 92546268 single base substitution G A intron_variant MELA-AU 14 92546936 92546936 single base substitution G A downstream_gene_variant MELA-AU 14 92546936 92546936 single base substitution G A intron_variant MELA-AU 14 92547607 92547607 single base substitution G A downstream_gene_variant MELA-AU 14 92547607 92547607 single base substitution G A intron_variant MELA-AU 14 92547644 92547644 single base substitution T C downstream_gene_variant MELA-AU 14 92547644 92547644 single base substitution T C intron_variant MELA-AU 14 92547805 92547805 single base substitution G A downstream_gene_variant MELA-AU 14 92547805 92547805 single base substitution G A intron_variant MELA-AU 14 92547827 92547827 single base substitution A G downstream_gene_variant MELA-AU 14 92547827 92547827 single base substitution A G intron_variant MELA-AU 14 92549444 92549444 single base substitution T C intron_variant MELA-AU 14 92550437 92550437 single base substitution G A intron_variant MELA-AU 14 92550831 92550832 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 92551766 92551766 single base substitution T C downstream_gene_variant MELA-AU 14 92551766 92551766 single base substitution T C intron_variant MELA-AU 14 92551790 92551790 single base substitution C T downstream_gene_variant MELA-AU 14 92551790 92551790 single base substitution C T intron_variant MELA-AU 14 92551803 92551803 single base substitution G A downstream_gene_variant MELA-AU 14 92551803 92551803 single base substitution G A intron_variant MELA-AU 14 92551891 92551891 single base substitution G A downstream_gene_variant MELA-AU 14 92551891 92551891 single base substitution G A intron_variant MELA-AU 14 92551944 92551944 single base substitution C T downstream_gene_variant MELA-AU 14 92551944 92551944 single base substitution C T intron_variant MELA-AU 14 92553122 92553122 single base substitution G A downstream_gene_variant MELA-AU 14 92553122 92553122 single base substitution G A intron_variant MELA-AU 14 92553435 92553435 single base substitution G A downstream_gene_variant MELA-AU 14 92553435 92553435 single base substitution G A intron_variant MELA-AU 14 92553750 92553750 single base substitution A T downstream_gene_variant MELA-AU 14 92553750 92553750 single base substitution A T intron_variant MELA-AU 14 92554017 92554017 single base substitution G A downstream_gene_variant MELA-AU 14 92554017 92554017 single base substitution G A intron_variant MELA-AU 14 92554046 92554046 single base substitution G A downstream_gene_variant MELA-AU 14 92554046 92554046 single base substitution G A intron_variant MELA-AU 14 92554155 92554155 single base substitution G A downstream_gene_variant MELA-AU 14 92554155 92554155 single base substitution G A intron_variant MELA-AU 14 92554193 92554193 single base substitution G A downstream_gene_variant MELA-AU 14 92554193 92554193 single base substitution G A intron_variant MELA-AU 14 92554809 92554809 single base substitution C T downstream_gene_variant MELA-AU 14 92554809 92554809 single base substitution C T intron_variant MELA-AU 14 92554983 92554983 single base substitution G A downstream_gene_variant MELA-AU 14 92554983 92554983 single base substitution G A intron_variant MELA-AU 14 92555818 92555818 single base substitution G A downstream_gene_variant MELA-AU 14 92555818 92555818 single base substitution G A intron_variant MELA-AU 14 92556938 92556938 single base substitution G A downstream_gene_variant MELA-AU 14 92556938 92556938 single base substitution G A intron_variant MELA-AU 14 92558017 92558018 multiple base substitution (>=2bp and <=200bp) AA CC downstream_gene_variant MELA-AU 14 92558017 92558018 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 14 92558968 92558969 multiple base substitution (>=2bp and <=200bp) AA CC downstream_gene_variant MELA-AU 14 92558968 92558969 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 14 92558984 92558984 single base substitution A G downstream_gene_variant MELA-AU 14 92558984 92558984 single base substitution A G intron_variant MELA-AU 14 92559359 92559359 single base substitution C T downstream_gene_variant MELA-AU 14 92559359 92559359 single base substitution C T intron_variant MELA-AU 14 92559651 92559651 single base substitution G A 3_prime_UTR_variant MELA-AU 14 92559651 92559651 single base substitution G A 5_prime_UTR_variant MELA-AU 14 92559651 92559651 single base substitution G A downstream_gene_variant MELA-AU 14 92559651 92559651 single base substitution G A exon_variant MELA-AU 14 92559651 92559651 single base substitution G A intron_variant MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S103L 308C>T MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S110L 329C>T MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S111L 332C>T MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S13L 38C>T MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S41L 122C>T MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S56L 167C>T MELA-AU 14 92559651 92559651 single base substitution G A missense_variant S96L 287C>T MELA-AU 14 92559787 92559787 deletion of <=200bp T - downstream_gene_variant MELA-AU 14 92559787 92559787 deletion of <=200bp T - exon_variant MELA-AU 14 92559787 92559787 deletion of <=200bp T - intron_variant MELA-AU 14 92559787 92559787 deletion of <=200bp T - upstream_gene_variant MELA-AU 14 92560927 92560927 single base substitution G A downstream_gene_variant MELA-AU 14 92560927 92560927 single base substitution G A intron_variant MELA-AU 14 92560927 92560927 single base substitution G A upstream_gene_variant MELA-AU 14 92562098 92562098 single base substitution A G downstream_gene_variant MELA-AU 14 92562098 92562098 single base substitution A G intron_variant MELA-AU 14 92562098 92562098 single base substitution A G upstream_gene_variant MELA-AU 14 92562597 92562597 single base substitution A C downstream_gene_variant MELA-AU 14 92562597 92562597 single base substitution A C intron_variant MELA-AU 14 92562597 92562597 single base substitution A C upstream_gene_variant MELA-AU 14 92562727 92562727 single base substitution G A exon_variant MELA-AU 14 92562727 92562727 single base substitution G A intron_variant MELA-AU 14 92562727 92562727 single base substitution G A upstream_gene_variant MELA-AU 14 92562857 92562857 single base substitution A T exon_variant MELA-AU 14 92562857 92562857 single base substitution A T intron_variant MELA-AU 14 92562857 92562857 single base substitution A T upstream_gene_variant MELA-AU 14 92563119 92563119 single base substitution G A exon_variant MELA-AU 14 92563119 92563119 single base substitution G A intron_variant MELA-AU 14 92563119 92563119 single base substitution G A missense_variant P22S 64C>T MELA-AU 14 92563119 92563119 single base substitution G A missense_variant P30S 88C>T MELA-AU 14 92563119 92563119 single base substitution G A upstream_gene_variant MELA-AU 14 92564138 92564138 single base substitution G A intron_variant MELA-AU 14 92564138 92564138 single base substitution G A upstream_gene_variant MELA-AU 14 92564269 92564269 single base substitution T C intron_variant MELA-AU 14 92564269 92564269 single base substitution T C upstream_gene_variant MELA-AU 14 92564314 92564314 single base substitution T A intron_variant MELA-AU 14 92564314 92564314 single base substitution T A upstream_gene_variant MELA-AU 14 92564461 92564461 single base substitution G A intron_variant MELA-AU 14 92564461 92564461 single base substitution G A upstream_gene_variant MELA-AU 14 92565463 92565463 single base substitution C T intron_variant MELA-AU 14 92565463 92565463 single base substitution C T upstream_gene_variant MELA-AU 14 92566240 92566240 single base substitution A C intron_variant MELA-AU 14 92566240 92566240 single base substitution A C upstream_gene_variant MELA-AU 14 92566708 92566708 single base substitution T C intron_variant MELA-AU 14 92566708 92566708 single base substitution T C upstream_gene_variant MELA-AU 14 92566988 92567001 deletion of <=200bp CAGTCACAAAAGCT - intron_variant MELA-AU 14 92566988 92567001 deletion of <=200bp CAGTCACAAAAGCT - upstream_gene_variant MELA-AU 14 92568585 92568585 single base substitution G A intron_variant MELA-AU 14 92569114 92569114 single base substitution G A intron_variant MELA-AU 14 92570476 92570476 single base substitution G A intron_variant MELA-AU 14 92570583 92570583 single base substitution C T intron_variant MELA-AU 14 92570782 92570782 single base substitution G A intron_variant MELA-AU 14 92571064 92571064 single base substitution G A intron_variant MELA-AU 14 92571087 92571087 single base substitution T C intron_variant MELA-AU 14 92571469 92571469 single base substitution G T intron_variant MELA-AU 14 92571778 92571778 single base substitution A C intron_variant MELA-AU 14 92571868 92571868 single base substitution A G intron_variant MELA-AU 14 92571951 92571951 single base substitution A T intron_variant MELA-AU 14 92571956 92571956 single base substitution G A intron_variant MELA-AU 14 92573602 92573602 single base substitution G A upstream_gene_variant MELA-AU 14 92573815 92573815 single base substitution A T upstream_gene_variant MELA-AU 14 92573834 92573834 single base substitution G A upstream_gene_variant MELA-AU 14 92574590 92574590 single base substitution G A upstream_gene_variant MELA-AU 14 92574779 92574779 single base substitution G T upstream_gene_variant MELA-AU 14 92575602 92575602 single base substitution A C upstream_gene_variant MELA-AU 14 92575672 92575672 single base substitution G A upstream_gene_variant MELA-AU 14 92575903 92575903 single base substitution G A upstream_gene_variant MELA-AU 14 92577068 92577069 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 92577933 92577933 single base substitution G A upstream_gene_variant ORCA-IN 14 92551529 92551529 deletion of <=200bp A - intron_variant ORCA-IN 14 92563500 92563500 single base substitution G A intron_variant ORCA-IN 14 92563500 92563500 single base substitution G A upstream_gene_variant ORCA-IN 14 92563667 92563667 single base substitution G A intron_variant ORCA-IN 14 92563667 92563667 single base substitution G A upstream_gene_variant OV-AU 14 92522987 92522987 single base substitution C G downstream_gene_variant OV-AU 14 92523633 92523633 single base substitution G A downstream_gene_variant OV-AU 14 92524957 92524957 single base substitution C T 3_prime_UTR_variant OV-AU 14 92524957 92524957 single base substitution C T downstream_gene_variant OV-AU 14 92524957 92524957 single base substitution C T exon_variant OV-AU 14 92525670 92525670 single base substitution C A 3_prime_UTR_variant OV-AU 14 92525670 92525670 single base substitution C A downstream_gene_variant OV-AU 14 92525670 92525670 single base substitution C A intron_variant OV-AU 14 92532181 92532181 single base substitution C T downstream_gene_variant OV-AU 14 92532181 92532181 single base substitution C T intron_variant OV-AU 14 92533826 92533826 single base substitution C T downstream_gene_variant OV-AU 14 92533826 92533826 single base substitution C T intron_variant OV-AU 14 92533916 92533916 single base substitution T C downstream_gene_variant OV-AU 14 92533916 92533916 single base substitution T C intron_variant OV-AU 14 92543040 92543040 single base substitution T A downstream_gene_variant OV-AU 14 92543040 92543040 single base substitution T A intron_variant OV-AU 14 92543559 92543559 single base substitution C T downstream_gene_variant OV-AU 14 92543559 92543559 single base substitution C T intron_variant OV-AU 14 92543816 92543816 single base substitution G C downstream_gene_variant OV-AU 14 92543816 92543816 single base substitution G C intron_variant OV-AU 14 92546032 92546032 single base substitution T C downstream_gene_variant OV-AU 14 92546032 92546032 single base substitution T C intron_variant OV-AU 14 92551215 92551215 single base substitution C T intron_variant OV-AU 14 92556549 92556549 single base substitution T A downstream_gene_variant OV-AU 14 92556549 92556549 single base substitution T A exon_variant OV-AU 14 92556549 92556549 single base substitution T A intron_variant OV-AU 14 92559907 92559907 single base substitution C A downstream_gene_variant OV-AU 14 92559907 92559907 single base substitution C A exon_variant OV-AU 14 92559907 92559907 single base substitution C A intron_variant OV-AU 14 92559907 92559907 single base substitution C A upstream_gene_variant OV-AU 14 92564137 92564137 single base substitution G C intron_variant OV-AU 14 92564137 92564137 single base substitution G C upstream_gene_variant OV-AU 14 92577007 92577007 single base substitution C G upstream_gene_variant PACA-AU 14 92523757 92523757 insertion of <=200bp - AAC downstream_gene_variant PACA-AU 14 92526616 92526616 single base substitution T A 3_prime_UTR_variant PACA-AU 14 92526616 92526616 single base substitution T A downstream_gene_variant PACA-AU 14 92526616 92526616 single base substitution T A intron_variant PACA-AU 14 92527231 92527231 single base substitution C T 3_prime_UTR_variant PACA-AU 14 92527231 92527231 single base substitution C T downstream_gene_variant PACA-AU 14 92527231 92527231 single base substitution C T intron_variant PACA-AU 14 92533352 92533352 single base substitution G T downstream_gene_variant PACA-AU 14 92533352 92533352 single base substitution G T intron_variant PACA-AU 14 92539419 92539419 single base substitution G C intron_variant PACA-AU 14 92542235 92542235 single base substitution A T intron_variant PACA-AU 14 92542649 92542649 single base substitution C T downstream_gene_variant PACA-AU 14 92542649 92542649 single base substitution C T intron_variant PACA-AU 14 92544695 92544695 insertion of <=200bp - T downstream_gene_variant PACA-AU 14 92544695 92544695 insertion of <=200bp - T intron_variant PACA-AU 14 92545308 92545308 single base substitution T C downstream_gene_variant PACA-AU 14 92545308 92545308 single base substitution T C intron_variant PACA-AU 14 92546195 92546195 single base substitution T C downstream_gene_variant PACA-AU 14 92546195 92546195 single base substitution T C intron_variant PACA-AU 14 92546960 92546960 single base substitution C A downstream_gene_variant PACA-AU 14 92546960 92546960 single base substitution C A intron_variant PACA-AU 14 92554424 92554424 single base substitution T C downstream_gene_variant PACA-AU 14 92554424 92554424 single base substitution T C intron_variant PACA-AU 14 92571781 92571781 single base substitution T A intron_variant PACA-AU 14 92573444 92573444 single base substitution G C upstream_gene_variant PACA-AU 14 92573445 92573445 single base substitution G C upstream_gene_variant PACA-AU 14 92574962 92574962 insertion of <=200bp - G upstream_gene_variant PACA-AU 14 92576995 92576995 single base substitution T C upstream_gene_variant PACA-CA 14 92520292 92520292 insertion of <=200bp - C downstream_gene_variant PACA-CA 14 92522970 92522970 single base substitution A T downstream_gene_variant PACA-CA 14 92526467 92526467 single base substitution C T 3_prime_UTR_variant PACA-CA 14 92526467 92526467 single base substitution C T downstream_gene_variant PACA-CA 14 92526467 92526467 single base substitution C T intron_variant PACA-CA 14 92528863 92528863 single base substitution C A 3_prime_UTR_variant PACA-CA 14 92528863 92528863 single base substitution C A downstream_gene_variant PACA-CA 14 92528863 92528863 single base substitution C A intron_variant PACA-CA 14 92530065 92530065 single base substitution A C 3_prime_UTR_variant PACA-CA 14 92530065 92530065 single base substitution A C downstream_gene_variant PACA-CA 14 92530065 92530065 single base substitution A C intron_variant PACA-CA 14 92532055 92532055 single base substitution C T intron_variant PACA-CA 14 92533132 92533132 single base substitution G T downstream_gene_variant PACA-CA 14 92533132 92533132 single base substitution G T intron_variant PACA-CA 14 92536999 92536999 single base substitution G T downstream_gene_variant PACA-CA 14 92536999 92536999 single base substitution G T intron_variant PACA-CA 14 92545192 92545192 single base substitution C G downstream_gene_variant PACA-CA 14 92545192 92545192 single base substitution C G intron_variant PACA-CA 14 92549470 92549470 single base substitution C G intron_variant PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R105T 314G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R133T 398G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R137T 410G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R148T 443G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R152T 455G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R158T 473G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R188T 563G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R202T 605G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R203T 608G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R24T 71G>C PACA-CA 14 92549470 92549470 single base substitution C G missense_variant R97T 290G>C PACA-CA 14 92549470 92549470 single base substitution C G splice_region_variant PACA-CA 14 92549640 92549640 single base substitution T C intron_variant PACA-CA 14 92554173 92554173 single base substitution T G downstream_gene_variant PACA-CA 14 92554173 92554173 single base substitution T G intron_variant PACA-CA 14 92556914 92556914 single base substitution C T downstream_gene_variant PACA-CA 14 92556914 92556914 single base substitution C T intron_variant PACA-CA 14 92560630 92560630 single base substitution C G downstream_gene_variant PACA-CA 14 92560630 92560630 single base substitution C G intron_variant PACA-CA 14 92560630 92560630 single base substitution C G upstream_gene_variant PACA-CA 14 92563295 92563295 single base substitution A C intron_variant PACA-CA 14 92563295 92563295 single base substitution A C upstream_gene_variant PACA-CA 14 92566582 92566582 single base substitution C T intron_variant PACA-CA 14 92566582 92566582 single base substitution C T upstream_gene_variant PACA-CA 14 92566940 92566940 single base substitution G T intron_variant PACA-CA 14 92566940 92566940 single base substitution G T upstream_gene_variant PACA-CA 14 92567364 92567364 single base substitution T A intron_variant PACA-CA 14 92567364 92567364 single base substitution T A upstream_gene_variant PACA-CA 14 92574003 92574003 single base substitution A T upstream_gene_variant PACA-CA 14 92574363 92574363 single base substitution A G upstream_gene_variant PACA-CA 14 92575826 92575826 single base substitution C T upstream_gene_variant PACA-CA 14 92576304 92576304 insertion of <=200bp - T upstream_gene_variant PACA-CA 14 92576982 92576982 single base substitution T A upstream_gene_variant PACA-CA 14 92577324 92577324 single base substitution G A upstream_gene_variant PAEN-AU 14 92535308 92535308 single base substitution C A downstream_gene_variant PAEN-AU 14 92535308 92535308 single base substitution C A intron_variant PAEN-AU 14 92553216 92553216 single base substitution C T downstream_gene_variant PAEN-AU 14 92553216 92553216 single base substitution C T intron_variant PAEN-IT 14 92526745 92526745 single base substitution A G 3_prime_UTR_variant PAEN-IT 14 92526745 92526745 single base substitution A G downstream_gene_variant PAEN-IT 14 92526745 92526745 single base substitution A G intron_variant PAEN-IT 14 92532098 92532098 single base substitution G A downstream_gene_variant PAEN-IT 14 92532098 92532098 single base substitution G A intron_variant PAEN-IT 14 92551490 92551490 single base substitution C T intron_variant PBCA-DE 14 92525381 92525381 single base substitution C T 3_prime_UTR_variant PBCA-DE 14 92525381 92525381 single base substitution C T downstream_gene_variant PBCA-DE 14 92525381 92525381 single base substitution C T intron_variant PBCA-DE 14 92525532 92525534 deletion of <=200bp AAT - 3_prime_UTR_variant PBCA-DE 14 92525532 92525534 deletion of <=200bp AAT - downstream_gene_variant PBCA-DE 14 92525532 92525534 deletion of <=200bp AAT - intron_variant PBCA-DE 14 92528601 92528601 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 14 92528601 92528601 insertion of <=200bp - A downstream_gene_variant PBCA-DE 14 92528601 92528601 insertion of <=200bp - A intron_variant PBCA-DE 14 92529111 92529111 single base substitution A T 3_prime_UTR_variant PBCA-DE 14 92529111 92529111 single base substitution A T downstream_gene_variant PBCA-DE 14 92529111 92529111 single base substitution A T intron_variant PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - 3_prime_UTR_variant PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK115Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK188Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK196Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK224Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK239Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK243Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK279Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK287Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK293Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK294Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - disruptive_inframe_deletion QK303Q PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - exon_variant PBCA-DE 14 92537386 92537388 deletion of <=200bp TTT - intron_variant PBCA-DE 14 92541097 92541097 single base substitution A G intron_variant PBCA-DE 14 92543316 92543316 single base substitution C A downstream_gene_variant PBCA-DE 14 92543316 92543316 single base substitution C A intron_variant PBCA-DE 14 92544170 92544171 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 14 92544170 92544171 deletion of <=200bp TA - intron_variant PBCA-DE 14 92547848 92547848 single base substitution G A downstream_gene_variant PBCA-DE 14 92547848 92547848 single base substitution G A intron_variant PBCA-DE 14 92552359 92552359 single base substitution T G downstream_gene_variant PBCA-DE 14 92552359 92552359 single base substitution T G intron_variant PBCA-DE 14 92561394 92561394 single base substitution C T downstream_gene_variant PBCA-DE 14 92561394 92561394 single base substitution C T intron_variant PBCA-DE 14 92561394 92561394 single base substitution C T upstream_gene_variant PRAD-CA 14 92519982 92519982 single base substitution A C downstream_gene_variant PRAD-CA 14 92526612 92526612 single base substitution A T 3_prime_UTR_variant PRAD-CA 14 92526612 92526612 single base substitution A T downstream_gene_variant PRAD-CA 14 92526612 92526612 single base substitution A T intron_variant PRAD-CA 14 92532965 92532965 single base substitution T A downstream_gene_variant PRAD-CA 14 92532965 92532965 single base substitution T A intron_variant PRAD-CA 14 92532966 92532966 single base substitution T A downstream_gene_variant PRAD-CA 14 92532966 92532966 single base substitution T A intron_variant PRAD-CA 14 92541670 92541670 single base substitution G A intron_variant PRAD-UK 14 92572652 92572652 single base substitution C A intron_variant PRAD-UK 14 92573224 92573224 single base substitution G C upstream_gene_variant PRAD-US 14 92548749 92548749 single base substitution C A 3_prime_UTR_variant PRAD-US 14 92548749 92548749 single base substitution C A exon_variant PRAD-US 14 92548749 92548749 single base substitution C A intron_variant PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E118* 352G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E126* 376G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E154* 460G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E158* 472G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E169* 505G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E173* 517G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E179* 535G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E209* 625G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E223* 667G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E224* 670G>T PRAD-US 14 92548749 92548749 single base substitution C A stop_gained E45* 133G>T READ-US 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant READ-US 14 92537379 92537379 single base substitution T C exon_variant READ-US 14 92537379 92537379 single base substitution T C intron_variant READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G READ-US 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G RECA-EU 14 92523938 92523938 single base substitution G T downstream_gene_variant RECA-EU 14 92525396 92525396 single base substitution A G 3_prime_UTR_variant RECA-EU 14 92525396 92525396 single base substitution A G downstream_gene_variant RECA-EU 14 92525396 92525396 single base substitution A G intron_variant RECA-EU 14 92529491 92529491 single base substitution T G 3_prime_UTR_variant RECA-EU 14 92529491 92529491 single base substitution T G downstream_gene_variant RECA-EU 14 92529491 92529491 single base substitution T G intron_variant RECA-EU 14 92537387 92537387 single base substitution T G 3_prime_UTR_variant RECA-EU 14 92537387 92537387 single base substitution T G exon_variant RECA-EU 14 92537387 92537387 single base substitution T G intron_variant RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K116Q 346A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K189Q 565A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K197Q 589A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K225Q 673A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K240Q 718A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K244Q 730A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K280Q 838A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K288Q 862A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K294Q 880A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K295Q 883A>C RECA-EU 14 92537387 92537387 single base substitution T G missense_variant K304Q 910A>C RECA-EU 14 92537388 92537388 single base substitution T C 3_prime_UTR_variant RECA-EU 14 92537388 92537388 single base substitution T C exon_variant RECA-EU 14 92537388 92537388 single base substitution T C intron_variant RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q115Q 345A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q188Q 564A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q196Q 588A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q224Q 672A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q239Q 717A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q243Q 729A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q279Q 837A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q287Q 861A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q293Q 879A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q294Q 882A>G RECA-EU 14 92537388 92537388 single base substitution T C synonymous_variant Q303Q 909A>G RECA-EU 14 92539265 92539265 single base substitution T C intron_variant RECA-EU 14 92556217 92556217 single base substitution C T downstream_gene_variant RECA-EU 14 92556217 92556217 single base substitution C T intron_variant RECA-EU 14 92557873 92557873 single base substitution G C downstream_gene_variant RECA-EU 14 92557873 92557873 single base substitution G C intron_variant RECA-EU 14 92572393 92572393 single base substitution T G intron_variant SKCA-BR 14 92519942 92519942 single base substitution G A downstream_gene_variant SKCA-BR 14 92524789 92524789 single base substitution C T downstream_gene_variant SKCA-BR 14 92526173 92526177 deletion of <=200bp AAAAG - 3_prime_UTR_variant SKCA-BR 14 92526173 92526177 deletion of <=200bp AAAAG - downstream_gene_variant SKCA-BR 14 92526173 92526177 deletion of <=200bp AAAAG - intron_variant SKCA-BR 14 92526320 92526320 single base substitution A C 3_prime_UTR_variant SKCA-BR 14 92526320 92526320 single base substitution A C downstream_gene_variant SKCA-BR 14 92526320 92526320 single base substitution A C intron_variant SKCA-BR 14 92531210 92531210 single base substitution G A intron_variant SKCA-BR 14 92532813 92532813 single base substitution C T downstream_gene_variant SKCA-BR 14 92532813 92532813 single base substitution C T intron_variant SKCA-BR 14 92533118 92533118 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 14 92533118 92533118 insertion of <=200bp - ATT intron_variant SKCA-BR 14 92534244 92534244 single base substitution A G downstream_gene_variant SKCA-BR 14 92534244 92534244 single base substitution A G intron_variant SKCA-BR 14 92536767 92536767 single base substitution C T downstream_gene_variant SKCA-BR 14 92536767 92536767 single base substitution C T intron_variant SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT 3_prime_UTR_variant SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT exon_variant SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G127GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G200GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G208GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G236GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G251GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G255GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G291GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G299GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G305GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G306GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT frameshift_variant G315GAAAAAA? SKCA-BR 14 92537353 92537353 insertion of <=200bp - CGCTGCTGCTGCTGCTGCT intron_variant SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG 3_prime_UTR_variant SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG 3_prime_UTR_variant SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG exon_variant SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G127AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G200AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G208AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G236AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G251AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G255AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G291AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G299AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G305AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G306AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG frameshift_variant G315AAAAAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTGCTGCTGCTG intron_variant SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG exon_variant SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G127AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G200AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G208AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G236AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G251AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G255AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G291AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G299AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G305AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G306AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG frameshift_variant G315AAAAAAG? SKCA-BR 14 92537354 92537354 insertion of <=200bp - CCTGCTGCTGCTGCTGCTG intron_variant SKCA-BR 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant SKCA-BR 14 92537379 92537379 single base substitution T C exon_variant SKCA-BR 14 92537379 92537379 single base substitution T C intron_variant SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G SKCA-BR 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G SKCA-BR 14 92540381 92540381 single base substitution G C intron_variant SKCA-BR 14 92542718 92542718 single base substitution G A downstream_gene_variant SKCA-BR 14 92542718 92542718 single base substitution G A intron_variant SKCA-BR 14 92542834 92542834 single base substitution G T downstream_gene_variant SKCA-BR 14 92542834 92542834 single base substitution G T intron_variant SKCA-BR 14 92544322 92544322 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 92544322 92544322 insertion of <=200bp - CT intron_variant SKCA-BR 14 92544413 92544413 single base substitution G A downstream_gene_variant SKCA-BR 14 92544413 92544413 single base substitution G A intron_variant SKCA-BR 14 92544809 92544809 single base substitution G A downstream_gene_variant SKCA-BR 14 92544809 92544809 single base substitution G A intron_variant SKCA-BR 14 92546463 92546463 single base substitution G A downstream_gene_variant SKCA-BR 14 92546463 92546463 single base substitution G A intron_variant SKCA-BR 14 92549308 92549308 single base substitution C T intron_variant SKCA-BR 14 92550918 92550918 insertion of <=200bp - AT intron_variant SKCA-BR 14 92551760 92551760 single base substitution C T downstream_gene_variant SKCA-BR 14 92551760 92551760 single base substitution C T intron_variant SKCA-BR 14 92554375 92554375 single base substitution G A downstream_gene_variant SKCA-BR 14 92554375 92554375 single base substitution G A intron_variant SKCA-BR 14 92555674 92555681 deletion of <=200bp CTCTTTTT - downstream_gene_variant SKCA-BR 14 92555674 92555681 deletion of <=200bp CTCTTTTT - intron_variant SKCA-BR 14 92557571 92557571 single base substitution G A downstream_gene_variant SKCA-BR 14 92557571 92557571 single base substitution G A intron_variant SKCA-BR 14 92559203 92559203 single base substitution A T downstream_gene_variant SKCA-BR 14 92559203 92559203 single base substitution A T intron_variant SKCA-BR 14 92560943 92560943 single base substitution G A downstream_gene_variant SKCA-BR 14 92560943 92560943 single base substitution G A intron_variant SKCA-BR 14 92560943 92560943 single base substitution G A upstream_gene_variant SKCA-BR 14 92561010 92561010 single base substitution G A downstream_gene_variant SKCA-BR 14 92561010 92561010 single base substitution G A intron_variant SKCA-BR 14 92561010 92561010 single base substitution G A upstream_gene_variant SKCA-BR 14 92561443 92561443 insertion of <=200bp - TAAA downstream_gene_variant SKCA-BR 14 92561443 92561443 insertion of <=200bp - TAAA intron_variant SKCA-BR 14 92561443 92561443 insertion of <=200bp - TAAA upstream_gene_variant SKCA-BR 14 92562967 92562967 insertion of <=200bp - CA exon_variant SKCA-BR 14 92562967 92562967 insertion of <=200bp - CA intron_variant SKCA-BR 14 92562967 92562967 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 14 92566214 92566223 deletion of <=200bp CAGAAAGACA - intron_variant SKCA-BR 14 92566214 92566223 deletion of <=200bp CAGAAAGACA - upstream_gene_variant SKCA-BR 14 92566226 92566231 deletion of <=200bp AAAGAC - intron_variant SKCA-BR 14 92566226 92566231 deletion of <=200bp AAAGAC - upstream_gene_variant SKCA-BR 14 92566240 92566240 single base substitution A C intron_variant SKCA-BR 14 92566240 92566240 single base substitution A C upstream_gene_variant SKCA-BR 14 92566244 92566244 single base substitution C A intron_variant SKCA-BR 14 92566244 92566244 single base substitution C A upstream_gene_variant SKCA-BR 14 92569454 92569456 deletion of <=200bp TAA - intron_variant SKCA-BR 14 92571094 92571094 single base substitution C T intron_variant SKCA-BR 14 92575236 92575236 single base substitution G A upstream_gene_variant SKCA-BR 14 92577933 92577933 single base substitution G A upstream_gene_variant SKCM-US 14 92559603 92559603 single base substitution C T 3_prime_UTR_variant SKCM-US 14 92559603 92559603 single base substitution C T 5_prime_UTR_variant SKCM-US 14 92559603 92559603 single base substitution C T downstream_gene_variant SKCM-US 14 92559603 92559603 single base substitution C T exon_variant SKCM-US 14 92559603 92559603 single base substitution C T intron_variant SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G112E 335G>A SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G119E 356G>A SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G126E 377G>A SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G127E 380G>A SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G29E 86G>A SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G57E 170G>A SKCM-US 14 92559603 92559603 single base substitution C T missense_variant G72E 215G>A STAD-US 14 92530710 92530710 single base substitution G T 3_prime_UTR_variant STAD-US 14 92530710 92530710 single base substitution G T intron_variant STAD-US 14 92530710 92530710 single base substitution G T missense_variant S168Y 503C>A STAD-US 14 92530710 92530710 single base substitution G T missense_variant S292Y 875C>A STAD-US 14 92530710 92530710 single base substitution G T missense_variant S332Y 995C>A STAD-US 14 92530710 92530710 single base substitution G T missense_variant S340Y 1019C>A STAD-US 14 92530710 92530710 single base substitution G T missense_variant S347Y 1040C>A STAD-US 14 92530710 92530710 single base substitution G T missense_variant S356Y 1067C>A STAD-US 14 92547369 92547369 single base substitution G A 3_prime_UTR_variant STAD-US 14 92547369 92547369 single base substitution G A downstream_gene_variant STAD-US 14 92547369 92547369 single base substitution G A exon_variant STAD-US 14 92547369 92547369 single base substitution G A intron_variant STAD-US 14 92547369 92547369 single base substitution G A missense_variant T165I 494C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T173I 518C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T201I 602C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T205I 614C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T216I 647C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T220I 659C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T256I 767C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T270I 809C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T271I 812C>T STAD-US 14 92547369 92547369 single base substitution G A missense_variant T92I 275C>T STAD-US 14 92548751 92548751 single base substitution T C 3_prime_UTR_variant STAD-US 14 92548751 92548751 single base substitution T C exon_variant STAD-US 14 92548751 92548751 single base substitution T C intron_variant STAD-US 14 92548751 92548751 single base substitution T C missense_variant D117G 350A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D125G 374A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D153G 458A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D157G 470A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D168G 503A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D172G 515A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D178G 533A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D208G 623A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D222G 665A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D223G 668A>G STAD-US 14 92548751 92548751 single base substitution T C missense_variant D44G 131A>G STAD-US 14 92560113 92560113 single base substitution A G downstream_gene_variant STAD-US 14 92560113 92560113 single base substitution A G exon_variant STAD-US 14 92560113 92560113 single base substitution A G intron_variant STAD-US 14 92560113 92560113 single base substitution A G synonymous_variant Y29Y 87T>C STAD-US 14 92560113 92560113 single base substitution A G synonymous_variant Y44Y 132T>C STAD-US 14 92560113 92560113 single base substitution A G synonymous_variant Y84Y 252T>C STAD-US 14 92560113 92560113 single base substitution A G synonymous_variant Y91Y 273T>C STAD-US 14 92560113 92560113 single base substitution A G synonymous_variant Y98Y 294T>C STAD-US 14 92560113 92560113 single base substitution A G synonymous_variant Y99Y 297T>C STAD-US 14 92560113 92560113 single base substitution A G upstream_gene_variant STAD-US 14 92560124 92560124 single base substitution T C downstream_gene_variant STAD-US 14 92560124 92560124 single base substitution T C exon_variant STAD-US 14 92560124 92560124 single base substitution T C intron_variant STAD-US 14 92560124 92560124 single base substitution T C missense_variant S26G 76A>G STAD-US 14 92560124 92560124 single base substitution T C missense_variant S41G 121A>G STAD-US 14 92560124 92560124 single base substitution T C missense_variant S81G 241A>G STAD-US 14 92560124 92560124 single base substitution T C missense_variant S88G 262A>G STAD-US 14 92560124 92560124 single base substitution T C missense_variant S95G 283A>G STAD-US 14 92560124 92560124 single base substitution T C missense_variant S96G 286A>G STAD-US 14 92560124 92560124 single base substitution T C upstream_gene_variant THCA-SA 14 92537353 92537353 insertion of <=200bp - G 3_prime_UTR_variant THCA-SA 14 92537353 92537353 insertion of <=200bp - G exon_variant THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G127G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G200G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G208G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G236G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G251G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G255G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G291G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G299G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G305G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G306G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G frameshift_variant G315G? THCA-SA 14 92537353 92537353 insertion of <=200bp - G intron_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG 3_prime_UTR_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG 3_prime_UTR_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3_prime_UTR_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG exon_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G127AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G200AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G208AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G236AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G251AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G255AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G291AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G299AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G305AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G306AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G315AAAAAAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG intron_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG exon_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G127AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G200AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G208AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G236AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G251AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G255AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G291AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G299AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G305AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G306AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG inframe_insertion G315AAAAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTGCTGCTG intron_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG exon_variant THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G127AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G200AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G208AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G236AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G251AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G255AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G291AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G299AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G305AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G306AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG inframe_insertion G315AAAAAAAG THCA-SA 14 92537354 92537354 insertion of <=200bp - CTGCTGCTGCTGCTGCTGCTG intron_variant THCA-SA 14 92537379 92537379 single base substitution T C 3_prime_UTR_variant THCA-SA 14 92537379 92537379 single base substitution T C exon_variant THCA-SA 14 92537379 92537379 single base substitution T C intron_variant THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q118Q 354A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q191Q 573A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q199Q 597A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q227Q 681A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q242Q 726A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q246Q 738A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q282Q 846A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q290Q 870A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q296Q 888A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q297Q 891A>G THCA-SA 14 92537379 92537379 single base substitution T C synonymous_variant Q306Q 918A>G THCA-SA 14 92537387 92537387 single base substitution T G 3_prime_UTR_variant THCA-SA 14 92537387 92537387 single base substitution T G exon_variant THCA-SA 14 92537387 92537387 single base substitution T G intron_variant THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K116Q 346A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K189Q 565A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K197Q 589A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K225Q 673A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K240Q 718A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K244Q 730A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K280Q 838A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K288Q 862A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K294Q 880A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K295Q 883A>C THCA-SA 14 92537387 92537387 single base substitution T G missense_variant K304Q 910A>C THCA-SA 14 92537388 92537388 single base substitution T C 3_prime_UTR_variant THCA-SA 14 92537388 92537388 single base substitution T C exon_variant THCA-SA 14 92537388 92537388 single base substitution T C intron_variant THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q115Q 345A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q188Q 564A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q196Q 588A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q224Q 672A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q239Q 717A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q243Q 729A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q279Q 837A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q287Q 861A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q293Q 879A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q294Q 882A>G THCA-SA 14 92537388 92537388 single base substitution T C synonymous_variant Q303Q 909A>G THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q113RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q186RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q194RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q222RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q237RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q241RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q277RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q285RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q291RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q292RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC frameshift_variant Q301RSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC intron_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGC splice_region_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q113RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q186RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q194RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q222RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q237RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q241RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q277RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q285RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q291RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q292RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC frameshift_variant Q301RSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC intron_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGC splice_region_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q113RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q186RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q194RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q222RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q237RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q241RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q277RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q285RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q291RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q292RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC frameshift_variant Q301RSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC intron_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGC splice_region_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q113RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q186RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q194RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q222RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q237RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q241RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q277RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q285RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q291RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q292RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC frameshift_variant Q301RSSSSR? THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC intron_variant THCA-SA 14 92537396 92537396 insertion of <=200bp - CTGCTGCTGCTGCTGC splice_region_variant UCEC-US 14 92537316 92537316 single base substitution C T 3_prime_UTR_variant UCEC-US 14 92537316 92537316 single base substitution C T exon_variant UCEC-US 14 92537316 92537316 single base substitution C T intron_variant UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R139R 417G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R212R 636G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R220R 660G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R248R 744G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R263R 789G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R267R 801G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R303R 909G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R311R 933G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R317R 951G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R318R 954G>A UCEC-US 14 92537316 92537316 single base substitution C T synonymous_variant R327R 981G>A UCEC-US 14 92547327 92547327 single base substitution C T 3_prime_UTR_variant UCEC-US 14 92547327 92547327 single base substitution C T downstream_gene_variant UCEC-US 14 92547327 92547327 single base substitution C T exon_variant UCEC-US 14 92547327 92547327 single base substitution C T intron_variant UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R106Q 317G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R179Q 536G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R187Q 560G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R215Q 644G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R230Q 689G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R234Q 701G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R270Q 809G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R284Q 851G>A UCEC-US 14 92547327 92547327 single base substitution C T missense_variant R285Q 854G>A UCEC-US 14 92548704 92548704 single base substitution C A 3_prime_UTR_variant UCEC-US 14 92548704 92548704 single base substitution C A exon_variant UCEC-US 14 92548704 92548704 single base substitution C A intron_variant UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E133* 397G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E141* 421G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E169* 505G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E173* 517G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E184* 550G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E188* 562G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E194* 580G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E224* 670G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E238* 712G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E239* 715G>T UCEC-US 14 92548704 92548704 single base substitution C A stop_gained E60* 178G>T UCEC-US 14 92548797 92548797 single base substitution C T 3_prime_UTR_variant UCEC-US 14 92548797 92548797 single base substitution C T exon_variant UCEC-US 14 92548797 92548797 single base substitution C T intron_variant UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D102N 304G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D110N 328G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D138N 412G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D142N 424G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D153N 457G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D157N 469G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D163N 487G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D193N 577G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D207N 619G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D208N 622G>A UCEC-US 14 92548797 92548797 single base substitution C T missense_variant D29N 85G>A UCEC-US 14 92560142 92560142 single base substitution C A downstream_gene_variant UCEC-US 14 92560142 92560142 single base substitution C A exon_variant UCEC-US 14 92560142 92560142 single base substitution C A intron_variant UCEC-US 14 92560142 92560142 single base substitution C A stop_gained E20* 58G>T UCEC-US 14 92560142 92560142 single base substitution C A stop_gained E35* 103G>T UCEC-US 14 92560142 92560142 single base substitution C A stop_gained E75* 223G>T UCEC-US 14 92560142 92560142 single base substitution C A stop_gained E82* 244G>T UCEC-US 14 92560142 92560142 single base substitution C A stop_gained E89* 265G>T UCEC-US 14 92560142 92560142 single base substitution C A stop_gained E90* 268G>T UCEC-US 14 92560142 92560142 single base substitution C A upstream_gene_variant UCEC-US 14 92563028 92563028 single base substitution G A exon_variant UCEC-US 14 92563028 92563028 single base substitution G A intron_variant UCEC-US 14 92563028 92563028 single base substitution G A missense_variant T52M 155C>T UCEC-US 14 92563028 92563028 single base substitution G A missense_variant T60M 179C>T UCEC-US 14 92563028 92563028 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S00842 COSM5662158 c.309G>A p.R103R Substitution - coding silent 14:92093757-92093757 - LS411 COSM4248441 c.475G>T p.G159C Substitution - Missense 14:92088730-92088730 - C0062T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-AO-A128-01 COSM3815533 c.674A>C p.D225A Substitution - Missense 14:92082401-92082401 - RMS10_ COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - TCGA-D5-6531-01 COSM5828172 c.901_902ins18 p.Q305_G306insQQQQQQ Insertion - In frame 14:92071024-92071025 - PTC_452 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - SNUH_G16_S1 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - WA26 COSM238914 c.412A>T p.T138S Substitution - Missense 14:92088793-92088793 - UM-SCC-2 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - S00501 COSM1580342 c.476-3delT p.? Unknown 14:92083261-92083261 - WSU-HN6 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - LN229 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - U373 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - 4095_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - SNUH_G16_S1 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - TCGA-ER-A198-06 COSM3498973 c.380G>A p.G127E Substitution - Missense 14:92093259-92093259 - 2292387 COSM4610682 c.211G>A p.D71N Substitution - Missense 14:92096116-92096116 - EV002-M COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - EV002-R6 COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - UM-SCC-47 COSM4603009 c.917_918ins19 p.D307fs*17 Insertion - Frameshift 14:92071008-92071009 - TCGA-DK-A3WW-01 COSM3793962 c.292G>C p.E98Q Substitution - Missense 14:92093774-92093774 - TCGA-A2-A1FX-01 COSM4816082 c.227C>T p.S76F Substitution - Missense 14:92096100-92096100 - TCGA-HC-7749-01 COSM4876795 c.670G>T p.E224* Substitution - Nonsense 14:92082405-92082405 - 93VU147T COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - 3030_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - SNU-C4 COSM2251845 c.313G>A p.D105N Substitution - Missense 14:92093753-92093753 - CAL33 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - 1848_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - 871_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - WSU-HN13 COSM4603009 c.917_918ins19 p.D307fs*17 Insertion - Frameshift 14:92071008-92071009 - UM-SCC-4 COSM4603002 c.916_917ins24 p.Q305_G306insAAAAAAAA Insertion - In frame 14:92071009-92071010 - NOKSI COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - TCGA-85-6561-01 COSM699092 c.1002G>T p.M334I Substitution - Missense 14:92064404-92064404 - Pat_70_B COSM5848719 c.913_915delCAG p.Q305delQ Deletion - In frame 14:92071011-92071013 - PTC_435 COSM5957089 c.916_917insC p.G306fs*12 Insertion - Frameshift 14:92071009-92071010 - TCGA-AD-6895-01 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - 1848_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - RMS113_ COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - HCC4T COSM1580342 c.476-3delT p.? Unknown 14:92083261-92083261 - PTC-10C COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - Pat_70_B COSM5848720 c.913_915delCAG p.Q305delQ Deletion - In frame 14:92071011-92071013 - 4472_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - 3030_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - PTC_455 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - CSCC-19-T COSM4573275 c.882_883AA>GC p.K295Q Substitution - Missense 14:92071043-92071044 - CHC320T COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - UPCI:SCC090 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - CSCC-52-T COSM4589659 c.897_898ins18 p.Q299_Q300insAAAAAA Insertion - In frame 14:92071028-92071029 - TCGA-AF-2687-01 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - CAL33 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - UM-SCC-17B COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - TCGA-AP-A059-01 COSM4866017 c.268G>T p.E90* Substitution - Nonsense 14:92093798-92093798 - GC_297_T-GC_297_N COSM1477849 c.882_884delAAA p.K295delK Deletion - In frame 14:92071042-92071044 - 3402_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_417 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - ORL-48 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - UM-SCC-17B COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - S02292 COSM5687459 c.261G>T p.W87C Substitution - Missense 14:92093805-92093805 - 18 COSM5745233 c.897G>A p.Q299Q Substitution - coding silent 14:92071029-92071029 - 871_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - ORL-48 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - CN-AML-CR-39-Dx COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - LN229 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-37-3789-01 COSM4860273 c.580G>T p.E194* Substitution - Nonsense 14:92083154-92083154 - T2197 COSM4664713 c.233A>G p.Q78R Substitution - Missense 14:92096094-92096094 - C0062T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - TCGA-CZ-5465-01 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - SNUH_G16_S1 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_408 COSM5957260 c.873_874ins13 p.Q292fs*30 Insertion - Frameshift 14:92071052-92071053 - CSCC-38-T COSM4573276 c.882_883AA>GC p.K295Q Substitution - Missense 14:92071043-92071044 - U87 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-ER-A198-06 COSM3498974 c.380G>A p.G127E Substitution - Missense 14:92093259-92093259 - PTC_416 COSM5958505 c.915_916ins39 p.Q305_G306ins13 Insertion - In frame 14:92071010-92071011 - CSCC-52-T COSM4589658 c.897_898ins18 p.Q299_Q300insAAAAAA Insertion - In frame 14:92071028-92071029 - 3030_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - STC246 COSM5054152 c.906_907ins15 p.Q305_G306insQQQQQ Insertion - In frame 14:92071019-92071020 - PTC_435 COSM5957088 c.916_917insC p.G306fs*12 Insertion - Frameshift 14:92071009-92071010 - CSCC-57-T COSM4573275 c.882_883AA>GC p.K295Q Substitution - Missense 14:92071043-92071044 - WSU-HN6 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - 93VU147T COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - B66 COSM1749019 c.132G>C p.E44D Substitution - Missense 14:92096731-92096731 - C0062T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC-10C COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - EV002-R9 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - WSU-HN30 COSM4603003 c.916_917ins24 p.Q305_G306insAAAAAAAA Insertion - In frame 14:92071009-92071010 - UM-SCC-2 COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - UM-SCC-4 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - PTC_235 COSM4335628 c.915_916ins21 p.Q305_G306insQQQQQQQ Insertion - In frame 14:92071010-92071011 - PTC_452 COSM5957999 c.873_874ins10 p.Q292fs*29 Insertion - Frameshift 14:92071052-92071053 - PTC_408 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - TCGA-D8-A27V-01 COSM3815537 c.138G>C p.M46I Substitution - Missense 14:92096725-92096725 - B66 COSM1749020 c.8C>A p.S3Y Substitution - Missense 14:92106545-92106545 - UM-SCC-11B COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - PDA_074 COSM3754168 c.634G>A p.V212M Substitution - Missense 14:92082441-92082441 - BK0060 COSM4188393 c.445G>A p.A149T Substitution - Missense 14:92088760-92088760 - 871_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-G4-6628-01 COSM1580342 c.476-3delT p.? Unknown 14:92083261-92083261 - BHY COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - UM-SCC-11B COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-D1-A17Q-01 COSM958846 c.715G>T p.E239* Substitution - Nonsense 14:92082360-92082360 - UD-SCC-2 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - S15_pre COSM5574420 c.858delA p.A287fs*44 Deletion - Frameshift 14:92080979-92080979 - UD-SCC-2 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - STC246 COSM5054151 c.906_907ins15 p.Q305_G306insQQQQQ Insertion - In frame 14:92071019-92071020 - T2944 COSM4664710 c.437C>T p.T146I Substitution - Missense 14:92088768-92088768 - GC8_T COSM147835 c.492C>T p.V164V Substitution - coding silent 14:92083242-92083242 - 4095_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-CA-6718-01 COSM4865361 c.715G>T p.E239* Substitution - Nonsense 14:92082360-92082360 - RMS112_ COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - 93VU147T COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - UM-SCC-47 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - 93VU147T COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - PTC_235 COSM2251806 c.915_916ins21 p.Q305_G306insQQQQQQQ Insertion - In frame 14:92071010-92071011 - B14 COSM1371592 c.914_916delAGG p.Q305_G306>R Complex - deletion inframe 14:92071010-92071012 - TCGA-60-2722-01 COSM699089 c.388-1G>A p.? Unknown 14:92088818-92088818 - PTC-14C COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - T2944 COSM4664711 c.437C>T p.T146I Substitution - Missense 14:92088768-92088768 - TCGA-G4-6628-01 COSM5828169 c.915_916ins18 p.Q305_G306insQQQQQQ Insertion - In frame 14:92071010-92071011 - TCGA-D1-A17D-01 COSM4875223 c.954G>A p.R318R Substitution - coding silent 14:92070972-92070972 - 1848_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - SCMC_RM2_ COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - TCGA-AD-5900-01 COSM4786371 c.575T>A p.I192N Substitution - Missense 14:92083159-92083159 - Detroit_562 COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - 2290929 COSM4440373 c.894G>A p.Q298Q Substitution - coding silent 14:92071032-92071032 - WSU-HN13 COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - PTC_417 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - HX13T COSM1580342 c.476-3delT p.? Unknown 14:92083261-92083261 - EV002-R3 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - WSU-HN30 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - TCGA-CZ-5465-01 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - UM-SCC-11B COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - CAL27 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - SW48 COSM4615935 c.911_912ins15 p.Q305_G306insQQQQQ Insertion - In frame 14:92071014-92071015 - 259_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - BK0060 COSM4188392 c.445G>A p.A149T Substitution - Missense 14:92088760-92088760 - TCGA-DK-A3WW-01 COSM3793961 c.292G>C p.E98Q Substitution - Missense 14:92093774-92093774 - STC263 COSM5054158 c.499G>A p.G167S Substitution - Missense 14:92083235-92083235 - TCGA-CG-5721-01 COSM4053026 c.286A>G p.S96G Substitution - Missense 14:92093780-92093780 - UM-SCC-17B COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - ORL-48 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - I2L-P7-Tumor-Organoid COSM5362701 c.710G>A p.R237H Substitution - Missense 14:92082365-92082365 - PTC_435 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-D5-6928-01 COSM4948097 c.516C>T p.C172C Substitution - coding silent 14:92083218-92083218 - WSU-HN13 COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - 2334191 COSM318868 c.917G>A p.G306E Substitution - Missense 14:92071009-92071009 - SNUH_G16_S1 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - RH30SJ_ COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - EV002-R1 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - LS174T COSM4248410 c.918G>A p.G306G Substitution - coding silent 14:92071008-92071008 - TCGA-BR-8297-01 COSM4053018 c.812C>T p.T271I Substitution - Missense 14:92081025-92081025 - CAL33 COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - LS180 COSM4248409 c.918G>A p.G306G Substitution - coding silent 14:92071008-92071008 - UM-SCC-2 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - B66-Tumor COSM1749019 c.132G>C p.E44D Substitution - Missense 14:92096731-92096731 - TCGA-K4-A3WS-01 COSM3793956 c.926C>A p.S309* Substitution - Nonsense 14:92071000-92071000 - CSCC-57-T COSM4573276 c.882_883AA>GC p.K295Q Substitution - Missense 14:92071043-92071044 - TCGA-FD-A3N5-01 COSM4811392 c.414G>C p.T138T Substitution - coding silent 14:92088791-92088791 - S02292 COSM5687458 c.261G>T p.W87C Substitution - Missense 14:92093805-92093805 - TCGA-AF-2687-01 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-AZ-6598-01 COSM5828179 c.476-4_476-3delTT p.? Unknown 14:92083261-92083262 - TCGA-HE-A5NF-01 COSM3987831 c.571C>G p.L191V Substitution - Missense 14:92083163-92083163 - LUAD-CHTN-MAD06-00668 COSM358884 c.942T>G p.H314Q Substitution - Missense 14:92070984-92070984 - UM-SCC-2 COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - S15_post COSM5574421 c.858delA p.A287fs*44 Deletion - Frameshift 14:92080979-92080979 - Pat_06_A COSM5848720 c.913_915delCAG p.Q305delQ Deletion - In frame 14:92071011-92071013 - C0062T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - 259_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - RD COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - UM-SCC-17B COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - UD-SCC-2 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_462 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - CAL27 COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - SNUH_G16_S1 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - PTC_435 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - ORL-48 COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - TCGA-AP-A056-01 COSM958845 c.854G>A p.R285Q Substitution - Missense 14:92080983-92080983 - PTC_417 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - UPCI:SCC090 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - TCGA-D5-6928-01 COSM1371594 c.516C>T p.C172C Substitution - coding silent 14:92083218-92083218 - PTC_462 COSM5958527 c.873_874ins16 p.Q292fs*31 Insertion - Frameshift 14:92071052-92071053 - UM-SCC-4 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - PTC_456 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-G4-6628-01 COSM5828170 c.915_916ins18 p.Q305_G306insQQQQQQ Insertion - In frame 14:92071010-92071011 - PTC_455 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - PTC_452 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_408 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - UM-SCC-11B COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - 1_RESISTANT COSM1477849 c.882_884delAAA p.K295delK Deletion - In frame 14:92071042-92071044 - LS180 COSM4248410 c.918G>A p.G306G Substitution - coding silent 14:92071008-92071008 - TCGA-AP-A056-01 COSM4868987 c.854G>A p.R285Q Substitution - Missense 14:92080983-92080983 - TCGA-66-2734-01 COSM699091 c.753G>T p.R251S Substitution - Missense 14:92082322-92082322 - U87 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - CAL33 COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - TCGA-HE-A5NF-01 COSM3987830 c.571C>G p.L191V Substitution - Missense 14:92083163-92083163 - TCGA-BR-8297-01 COSM4053019 c.812C>T p.T271I Substitution - Missense 14:92081025-92081025 - TCGA-CG-4305-01 COSM4053022 c.668A>G p.D223G Substitution - Missense 14:92082407-92082407 - B66-Tumor COSM1749020 c.8C>A p.S3Y Substitution - Missense 14:92106545-92106545 - PTC_409 COSM5958226 c.915_916ins27 p.Q305_G306insQQQQQQQQQ Insertion - In frame 14:92071010-92071011 - ccRCC-11 COSM1665363 c.1086delA p.? Unknown PTC_452 COSM5957998 c.873_874ins10 p.Q292fs*29 Insertion - Frameshift 14:92071052-92071053 - S00842 COSM5662159 c.309G>A p.R103R Substitution - coding silent 14:92093757-92093757 - 2334191 COSM318869 c.916G>C p.G306R Substitution - Missense 14:92071010-92071010 - EV002-R6 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - TCGA-BR-8360-01 COSM2251846 c.297T>C p.Y99Y Substitution - coding silent 14:92093769-92093769 - T3720 COSM4664708 c.472G>A p.E158K Substitution - Missense 14:92088733-92088733 - PTC_435 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - PTC_452 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - 3402_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - RK029_C01 COSM1629431 c.38T>C p.L13P Substitution - Missense 14:92096825-92096825 - UPCI:SCC090 COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - CAL27 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - TCGA-AP-A059-01 COSM958848 c.268G>T p.E90* Substitution - Nonsense 14:92093798-92093798 - 3402_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - PTC_462 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - 18 COSM5745232 c.897G>A p.Q299Q Substitution - coding silent 14:92071029-92071029 - PTC_408 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - Pat_73_B COSM5848722 c.650A>G p.D217G Substitution - Missense 14:92082425-92082425 - PTC_417 COSM5960049 c.873_874insGCAGCAG p.Q292fs*28 Insertion - Frameshift 14:92071052-92071053 - 2292387 COSM4610683 c.211G>A p.D71N Substitution - Missense 14:92096116-92096116 - LS174T COSM4248409 c.918G>A p.G306G Substitution - coding silent 14:92071008-92071008 - TCGA-D5-6920-01 COSM2251806 c.915_916ins21 p.Q305_G306insQQQQQQQ Insertion - In frame 14:92071010-92071011 - PTC_416 COSM5958506 c.915_916ins39 p.Q305_G306ins13 Insertion - In frame 14:92071010-92071011 - UD-SCC-2 COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - UM-SCC-17B COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - TCGA-HC-7749-01 COSM1470754 c.670G>T p.E224* Substitution - Nonsense 14:92082405-92082405 - SCC-9 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - TCGA-CZ-5465-01 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - TCGA-60-2722-01 COSM4860861 c.388-1G>A p.? Unknown 14:92088818-92088818 - RMS113_ COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - BHY COSM4603008 c.917_918ins19 p.D307fs*17 Insertion - Frameshift 14:92071008-92071009 - SCMC_RM2_ COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - TCGA-AX-A0J0-01 COSM4867014 c.622G>A p.D208N Substitution - Missense 14:92082453-92082453 - PDA_004 COSM3754167 c.634G>A p.V212M Substitution - Missense 14:92082441-92082441 - TCGA-AZ-6598-01 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_408 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-D1-A17D-01 COSM958844 c.954G>A p.R318R Substitution - coding silent 14:92070972-92070972 - TCGA-76-4925 COSM1371592 c.914_916delAGG p.Q305_G306>R Complex - deletion inframe 14:92071010-92071012 - Pat_73_A COSM5848723 c.650A>G p.D217G Substitution - Missense 14:92082425-92082425 - PTC_455 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - SCC-9 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - UM-SCC-4 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - TCGA-AO-A128-01 COSM3815534 c.674A>C p.D225A Substitution - Missense 14:92082401-92082401 - RD COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - AD25 COSM5966345 c.27A>G p.Q9Q Substitution - coding silent 14:92096836-92096836 - U373 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_452 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-CG-5721-01 COSM4053027 c.286A>G p.S96G Substitution - Missense 14:92093780-92093780 - TCGA-D1-A16D-01 COSM958849 c.179C>T p.T60M Substitution - Missense 14:92096684-92096684 - TCGA-66-2734-01 COSM4858867 c.753G>T p.R251S Substitution - Missense 14:92082322-92082322 - TCGA-BC-A112-01 COSM4936486 c.766A>C p.S256R Substitution - Missense 14:92082309-92082309 - TCGA-AM-5820-01 COSM3754168 c.634G>A p.V212M Substitution - Missense 14:92082441-92082441 - NB1952 COSM4248412 c.917G>A p.G306E Substitution - Missense 14:92071009-92071009 - TCGA-D5-6531-01 COSM5828173 c.901_902ins18 p.Q305_G306insQQQQQQ Insertion - In frame 14:92071024-92071025 - PTC_408 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-D1-A17Q-01 COSM4865361 c.715G>T p.E239* Substitution - Nonsense 14:92082360-92082360 - PTC-28C COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_455 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - NOKSI COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - RH30SJ_ COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - T3720 COSM4664707 c.472G>A p.E158K Substitution - Missense 14:92088733-92088733 - PTC_462 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - I2L-P7-Tumor-Organoid COSM5362702 c.710G>A p.R237H Substitution - Missense 14:92082365-92082365 - PTC_409 COSM5958227 c.915_916ins27 p.Q305_G306insQQQQQQQQQ Insertion - In frame 14:92071010-92071011 - 1848_T COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - NOKSI COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - PTC_462 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - SMS-CTR COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - 4472_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - 824_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - sysucc-1510T COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - UM-SCC-11B COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - 587338 COSM1184236 c.853C>T p.R285* Substitution - Nonsense 14:92080984-92080984 - TCGA-AM-5820-01 COSM3754167 c.634G>A p.V212M Substitution - Missense 14:92082441-92082441 - SMS-CTR COSM4248403 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - UD-SCC-2 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - EV002-R4 COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - NB1952 COSM318868 c.917G>A p.G306E Substitution - Missense 14:92071009-92071009 - ASHPC_0030_Pa_P COSM4962683 c.608G>C p.R203T Substitution - Missense 14:92083126-92083126 - sysucc-1510T COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_408 COSM5957261 c.873_874ins13 p.Q292fs*30 Insertion - Frameshift 14:92071052-92071053 - TCGA-BC-A112-01 COSM4936487 c.766A>C p.S256R Substitution - Missense 14:92082309-92082309 - ESO-0129 COSM1245835 c.190-8_190-7insA p.? Unknown 14:92096144-92096145 - 1848_T COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_456 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - 3030_T COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - Pat_73_B COSM5848723 c.650A>G p.D217G Substitution - Missense 14:92082425-92082425 - SNUH_G16_S1 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - SCC-9 COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - ORL-48 COSM4603006 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - SCC-9 COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - WSU-HN13 COSM4603008 c.917_918ins19 p.D307fs*17 Insertion - Frameshift 14:92071008-92071009 - Pat_73_A COSM5848722 c.650A>G p.D217G Substitution - Missense 14:92082425-92082425 - ESO-1145 COSM1245836 c.454T>A p.L152M Substitution - Missense 14:92088751-92088751 - ORL-48 COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - TCGA-FJ-A3ZE-01 COSM3793958 c.442C>G p.L148V Substitution - Missense 14:92088763-92088763 - CSCC-38-T COSM4573275 c.882_883AA>GC p.K295Q Substitution - Missense 14:92071043-92071044 - HDC54 COSM4335650 c.893_894ins21 p.Q305_G306insQQQQQQQ Insertion - In frame 14:92071032-92071033 - T3498 COSM4664705 c.957A>G p.P319P Substitution - coding silent 14:92070969-92070969 - UD-SCC-2 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - WSU-HN13 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - TCGA-CZ-5465-01 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - EV002-R3 COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - 721LT COSM4382078 c.578G>A p.G193E Substitution - Missense 14:92083156-92083156 - SNU-C4 COSM4248443 c.313G>A p.D105N Substitution - Missense 14:92093753-92093753 - UPCI:SCC090 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - UPCI:SCC090 COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - UD-SCC-2 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - J74_T COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_435 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - CHC320T COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - CAL27 COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - EV002-R7 COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - LS411 COSM2251844 c.475G>T p.G159C Substitution - Missense 14:92088730-92088730 - NOKSI COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - Detroit_562 COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - TCGA-AZ-6598-01 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_435 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC-28C COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - Detroit_562 COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - 93VU147T COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - BHY COSM4603009 c.917_918ins19 p.D307fs*17 Insertion - Frameshift 14:92071008-92071009 - UM-SCC-11B COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - UM-SCC-47 COSM4603008 c.917_918ins19 p.D307fs*17 Insertion - Frameshift 14:92071008-92071009 - STC263 COSM5054157 c.499G>A p.G167S Substitution - Missense 14:92083235-92083235 - TCGA-C5-A3HE-01 COSM4664707 c.472G>A p.E158K Substitution - Missense 14:92088733-92088733 - P126 COSM1580342 c.476-3delT p.? Unknown 14:92083261-92083261 - 4472_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_455 COSM5958527 c.873_874ins16 p.Q292fs*31 Insertion - Frameshift 14:92071052-92071053 - UD-SCC-2 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - CN-AML-CR-39-Dx COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_452 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - UM-SCC-4 COSM4603003 c.916_917ins24 p.Q305_G306insAAAAAAAA Insertion - In frame 14:92071009-92071010 - WSU-HN30 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - 4095_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - B66-Tumor COSM3932003 c.8C>A p.S3Y Substitution - Missense 14:92106545-92106545 - PTC_408 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - RK029_C COSM3700913 c.38T>C p.L13P Substitution - Missense 14:92096825-92096825 - PDA_074 COSM3754167 c.634G>A p.V212M Substitution - Missense 14:92082441-92082441 - 721LT COSM4382077 c.578G>A p.G193E Substitution - Missense 14:92083156-92083156 - EV002-R7 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - TCGA-K4-A3WS-01 COSM3793955 c.926C>A p.S309* Substitution - Nonsense 14:92071000-92071000 - PTC_435 COSM5957261 c.873_874ins13 p.Q292fs*30 Insertion - Frameshift 14:92071052-92071053 - UPCI:SCC090 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - TCGA-AA-A010-01 COSM279086 c.176G>A p.R59H Substitution - Missense 14:92096687-92096687 - TCGA-C5-A3HE-01 COSM4664708 c.472G>A p.E158K Substitution - Missense 14:92088733-92088733 - PTC_462 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - TCGA-CA-6718-01 COSM958846 c.715G>T p.E239* Substitution - Nonsense 14:92082360-92082360 - TCGA-A2-A1FX-01 COSM1477850 c.227C>T p.S76F Substitution - Missense 14:92096100-92096100 - EV002-M COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - PTC_417 COSM5960048 c.873_874insGCAGCAG p.Q292fs*28 Insertion - Frameshift 14:92071052-92071053 - TCGA-39-5024-01 COSM4858708 c.121G>C p.D41H Substitution - Missense 14:92096742-92096742 - EV002-R4 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - Pat_41_B COSM5848717 c.994G>A p.D332N Substitution - Missense 14:92064412-92064412 - PTC_417 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - EV002-R1 COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - UM-SCC-47 COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - TCGA-AX-A0J0-01 COSM958847 c.622G>A p.D208N Substitution - Missense 14:92082453-92082453 - AD25 COSM5966344 c.27A>G p.Q9Q Substitution - coding silent 14:92096836-92096836 - TCGA-BR-8360-01 COSM4053024 c.297T>C p.Y99Y Substitution - coding silent 14:92093769-92093769 - PTC_455 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - S00501 COSM5658223 c.476-3delT p.? Unknown 14:92083261-92083261 - TCGA-D1-A16D-01 COSM4865054 c.179C>T p.T60M Substitution - Missense 14:92096684-92096684 - TCGA-37-3789-01 COSM699090 c.580G>T p.E194* Substitution - Nonsense 14:92083154-92083154 - TCGA-FJ-A3ZE-01 COSM3793959 c.442C>G p.L148V Substitution - Missense 14:92088763-92088763 - S15_post COSM5574420 c.858delA p.A287fs*44 Deletion - Frameshift 14:92080979-92080979 - 4095_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - TCGA-AZ-6601-01 COSM1371595 c.307A>G p.R103G Substitution - Missense 14:92093759-92093759 - UM-SCC-11B COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - 1_PRE-TREATMENT COSM1477849 c.882_884delAAA p.K295delK Deletion - In frame 14:92071042-92071044 - ZZUFHECRKL-G068T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - YUMER COSM1707727 c.419C>T p.P140L Substitution - Missense 14:92088786-92088786 - PTC_462 COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - 259_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-D5-6920-01 COSM4335628 c.915_916ins21 p.Q305_G306insQQQQQQQ Insertion - In frame 14:92071010-92071011 - PGBM15PT COSM1580342 c.476-3delT p.? Unknown 14:92083261-92083261 - WSU-HN6 COSM4602997 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - T3498 COSM4664704 c.957A>G p.P319P Substitution - coding silent 14:92070969-92070969 - 259_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-AD-5900-01 COSM1371593 c.575T>A p.I192N Substitution - Missense 14:92083159-92083159 - TCGA-AZ-6601-01 COSM4948993 c.307A>G p.R103G Substitution - Missense 14:92093759-92093759 - ASHPC_0030_Pa_P COSM4962684 c.608G>C p.R203T Substitution - Missense 14:92083126-92083126 - CSCC-19-T COSM4573276 c.882_883AA>GC p.K295Q Substitution - Missense 14:92071043-92071044 - LOVO COSM4248431 c.524A>G p.D175G Substitution - Missense 14:92083210-92083210 - PTC_435 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - 2290929 COSM4440374 c.894G>A p.Q298Q Substitution - coding silent 14:92071032-92071032 - TCGA-D8-A27V-01 COSM3815536 c.138G>C p.M46I Substitution - Missense 14:92096725-92096725 - 871_T COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - B66-Tumor COSM3932001 c.132G>C p.E44D Substitution - Missense 14:92096731-92096731 - PTC-14C COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - UM-SCC-47 COSM4603000 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - Detroit_562 COSM4602999 c.916_917ins27 p.Q305_G306insAAAAAAAAA Insertion - In frame 14:92071009-92071010 - RMS10_ COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - 3030_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-AD-6895-01 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - tumor_4120193 COSM3927499 c.388-5T>C p.? Unknown 14:92088822-92088822 - GC_297_T-GC_297_N COSM4772716 c.882_884delAAA p.K295delK Deletion - In frame 14:92071042-92071044 - STC297 COSM5054155 c.890_891insGCA p.Q305_G306insQ Insertion - In frame 14:92071035-92071036 - TCGA-CG-4305-01 COSM4053021 c.668A>G p.D223G Substitution - Missense 14:92082407-92082407 - TCGA-39-5024-01 COSM699088 c.121G>C p.D41H Substitution - Missense 14:92096742-92096742 - UPCI:SCC090 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - ORL-48 COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - WSU-HN30 COSM4603002 c.916_917ins24 p.Q305_G306insAAAAAAAA Insertion - In frame 14:92071009-92071010 - TCGA-AZ-6598-01 COSM5828178 c.476-4_476-3delTT p.? Unknown 14:92083261-92083262 - 4472_T COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - UPCI:SCC090 COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_455 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - EV002-R9 COSM4410602 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - T2197 COSM4664714 c.233A>G p.Q78R Substitution - Missense 14:92096094-92096094 - UD-SCC-2 COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - PTC_462 COSM5958528 c.873_874ins16 p.Q292fs*31 Insertion - Frameshift 14:92071052-92071053 - TCGA-BR-8680-01 COSM4053016 c.1040C>A p.S347Y Substitution - Missense 14:92064366-92064366 - 3402_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - S15_pre COSM5574421 c.858delA p.A287fs*44 Deletion - Frameshift 14:92080979-92080979 - WSU-HN6 COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - BHY COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - PTC_455 COSM5958528 c.873_874ins16 p.Q292fs*31 Insertion - Frameshift 14:92071052-92071053 - 824_T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - 002 COSM1162038 c.617A>T p.K206I Substitution - Missense 14:92082458-92082458 - T3262 COSM4664702 c.1034C>T p.T345I Substitution - Missense 14:92064372-92064372 - UPCI:SCC090 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - tumor_4120193 COSM3927498 c.388-5T>C p.? Unknown 14:92088822-92088822 - PTC_435 COSM5957260 c.873_874ins13 p.Q292fs*30 Insertion - Frameshift 14:92071052-92071053 - PDA_004 COSM3754168 c.634G>A p.V212M Substitution - Missense 14:92082441-92082441 - TCGA-G4-6628-01 COSM5658223 c.476-3delT p.? Unknown 14:92083261-92083261 - HDC54 COSM2251817 c.893_894ins21 p.Q305_G306insQQQQQQQ Insertion - In frame 14:92071032-92071033 - LOVO COSM2251842 c.524A>G p.D175G Substitution - Missense 14:92083210-92083210 - ZZUFHECRKL-G068T COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - SW48 COSM4615936 c.911_912ins15 p.Q305_G306insQQQQQ Insertion - In frame 14:92071014-92071015 - Pat_06_A COSM5848719 c.913_915delCAG p.Q305delQ Deletion - In frame 14:92071011-92071013 - UD-SCC-2 COSM4602996 c.916_917ins30 p.Q305_G306ins10 Insertion - In frame 14:92071009-92071010 - BHY COSM4590608 c.1047C>A p.Y349* Substitution - Nonsense 14:92070879-92070879 - SCC-9 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - RK029_C COSM1629431 c.38T>C p.L13P Substitution - Missense 14:92096825-92096825 - RMS112_ COSM4248404 c.919G>C p.D307H Substitution - Missense 14:92071007-92071007 - PTC_417 COSM3773715 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - 3030_T COSM3749284 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - 1848_T COSM3754165 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - PTC_417 COSM3754164 c.883A>C p.K295Q Substitution - Missense 14:92071043-92071043 - TCGA-FD-A3N5-01 COSM1300907 c.414G>C p.T138T Substitution - coding silent 14:92088791-92088791 - J74_T COSM433493 c.891A>G p.Q297Q Substitution - coding silent 14:92071035-92071035 - WSU-HN30 COSM4603005 c.917_918ins21 p.G306_D307insAAAAAAA Insertion - In frame 14:92071008-92071009 - PTC_452 COSM3773716 c.882A>G p.Q294Q Substitution - coding silent 14:92071044-92071044 - STC297 COSM5054154 c.890_891insGCA p.Q305_G306insQ Insertion - In frame 14:92071035-92071036 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.532632 14q21 607047

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.I80*fs*1 c.237delT 14 92560173 HNSC A G Missense p.L13P c.38T>C 14 92563169 HC A T 3-UTRSNV . c.1083+3047T>A 14 92527620 HC A T Missense p.L152M c.454T>A 14 92555095 ESCA C A Missense p.D175Y c.523G>T 14 92549555 CM C A Missense p.M334I c.1002G>T 14 92530748 LUSC C A Missense p.R251S c.753G>T 14 92548666 LUSC C A Nonsense p.E10* c.28G>T 14 92563179 HNSC C A Nonsense p.E194* c.580G>T 14 92549498 LUSC C A Nonsense p.E224* c.670G>T 14 92548749 PRAD CCT - MultiAAMissense p.Q305_G306delinsR c.914_916delAGG 14 92537354 LUAD C G IntronicSNV . c.991+365G>C 14 92536914 CLL C G Missense p.D41H c.121G>C 14 92563086 LUSC C G Missense p.G306R c.916G>C 14 92537354 SCLC C G Synonymous p.T138T c.414G>C 14 92555135 BLCA C T IntronicSNV . c.991+254G>A 14 92537025 CLL C T Missense p.D175N c.523G>A 14 92549555 HNSC C T Missense p.E201K c.601G>A 14 92549477 CM C T Missense p.G127E c.380G>A 14 92559603 CM C T Missense p.G306E c.917G>A 14 92537353 SCLC C T SpliceAcceptorSNV . c.388-1G>A 14 92555162 LUSC C T Synonymous p.R318R c.954G>A 14 92537316 UCEC G A IntronicSNV . c.320+37C>T 14 92560053 CM G A Missense p.S76F c.227C>T 14 92562444 BRCA G A Missense p.T60M c.179C>T 14 92563028 UCEC GG TT Missense p.P140K c.418_419delinsAA 14 92555130 CM T C Missense p.D223G c.668A>G 14 92548751 STAD - T IntronicInsertion . c.190-8dupA 14 92562489 ESCA