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 18 724561 724561 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr18:724561C>A c.1495G>T c.(1495-1497)Gaa>Taa p.E499* BLCA 18 724590 724590 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr18:724590T>C c.1466A>G c.(1465-1467)tAc>tGc p.Y489C BLCA 18 739801 739801 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr18:739801T>G c.1071A>C c.(1069-1071)ttA>ttC p.L357F BLCA 18 743319 743319 + Missense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr18:743319C>T c.821G>A c.(820-822)cGa>cAa p.R274Q BLCA 18 756604 756604 + Missense_Mutation SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr18:756604G>C c.224C>G c.(223-225)tCt>tGt p.S75C BLCA 18 756621 756621 + Silent SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr18:756621C>A c.207G>T c.(205-207)acG>acT p.T69T BLCA 18 756778 756778 + Missense_Mutation SNP C C G TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr18:756778C>G c.50G>C c.(49-51)aGa>aCa p.R17T BRCA 18 743380 743380 + Missense_Mutation SNP C C G TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 g.chr18:743380C>G c.760G>C c.(760-762)Gtg>Ctg p.V254L BRCA 18 756691 756691 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chr18:756691G>A c.137C>T c.(136-138)tCa>tTa p.S46L CESC 18 724573 724573 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr18:724573G>A c.1483C>T c.(1483-1485)Cag>Tag p.Q495* CESC 18 742944 742944 + Missense_Mutation SNP T T G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 g.chr18:742944T>G c.1034A>C c.(1033-1035)tAc>tCc p.Y345S COAD 18 724568 724568 + Silent SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:724568G>T c.1488C>A c.(1486-1488)ggC>ggA p.G496G COAD 18 724571 724571 + Missense_Mutation SNP C C A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr18:724571C>A c.1485G>T c.(1483-1485)caG>caT p.Q495H COAD 18 724571 724571 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr18:724571C>A c.1485G>T c.(1483-1485)caG>caT p.Q495H COAD 18 742951 742951 + Missense_Mutation SNP G G A TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr18:742951G>A c.1027C>T c.(1027-1029)Cca>Tca p.P343S COAD 18 745788 745788 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:745788C>A c.644G>T c.(643-645)aGg>aTg p.R215M COAD 18 745962 745963 + Frame_Shift_Del DEL CT CT - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr18:745962_745963delCT c.559_560delAG c.(559-561)agtfs p.S187fs COAD 18 746049 746049 + Nonsense_Mutation SNP C C T TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr18:746049C>T c.473G>A c.(472-474)tGg>tAg p.W158* COAD 18 746050 746050 + Splice_Site SNP A A G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr18:746050A>G c.472T>C c.(472-474)Tgg>Cgg p.W158R COAD 18 747987 747987 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:747987C>T c.403G>A c.(403-405)Gct>Act p.A135T COAD 18 751800 751800 + Silent SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr18:751800A>G c.276T>C c.(274-276)ggT>ggC p.G92G COAD 18 756804 756804 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr18:756804T>G c.24A>C c.(22-24)gaA>gaC p.E8D COADREAD 18 724568 724568 + Silent SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:724568G>T c.1488C>A c.(1486-1488)ggC>ggA p.G496G COADREAD 18 724571 724571 + Missense_Mutation SNP C C A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr18:724571C>A c.1485G>T c.(1483-1485)caG>caT p.Q495H COADREAD 18 724571 724571 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr18:724571C>A c.1485G>T c.(1483-1485)caG>caT p.Q495H COADREAD 18 742951 742951 + Missense_Mutation SNP G G A TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr18:742951G>A c.1027C>T c.(1027-1029)Cca>Tca p.P343S COADREAD 18 745788 745788 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:745788C>A c.644G>T c.(643-645)aGg>aTg p.R215M COADREAD 18 745962 745963 + Frame_Shift_Del DEL CT CT - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr18:745962_745963delCT c.559_560delAG c.(559-561)agtfs p.S187fs COADREAD 18 746048 746048 + Nonsense_Mutation SNP C C T TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr18:746048C>T c.474G>A c.(472-474)tgG>tgA p.W158* COADREAD 18 746049 746049 + Nonsense_Mutation SNP C C T TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr18:746049C>T c.473G>A c.(472-474)tGg>tAg p.W158* COADREAD 18 746050 746050 + Splice_Site SNP A A G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr18:746050A>G c.472T>C c.(472-474)Tgg>Cgg p.W158R COADREAD 18 747987 747987 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:747987C>T c.403G>A c.(403-405)Gct>Act p.A135T COADREAD 18 751800 751800 + Silent SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr18:751800A>G c.276T>C c.(274-276)ggT>ggC p.G92G COADREAD 18 756804 756804 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr18:756804T>G c.24A>C c.(22-24)gaA>gaC p.E8D DLBC 18 743032 743032 + Missense_Mutation SNP C C T TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr18:743032C>T c.946G>A c.(946-948)Gct>Act p.A316T ESCA 18 724581 724581 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr18:724581G>A c.1475C>T c.(1474-1476)cCg>cTg p.P492L ESCA 18 743079 743079 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr18:743079G>A c.899C>T c.(898-900)aCg>aTg p.T300M ESCA 18 745953 745953 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr18:745953G>T c.569C>A c.(568-570)aCt>aAt p.T190N ESCA 18 746023 746023 + Missense_Mutation SNP C C G TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 g.chr18:746023C>G c.499G>C c.(499-501)Gat>Cat p.D167H ESCA 18 748017 748017 + Splice_Site SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr18:748017C>G c.373G>C c.(373-375)Gaa>Caa p.E125Q GBMLGG 18 743026 743026 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:743026G>T c.952C>A c.(952-954)Ctt>Att p.L318I GBMLGG 18 756710 756710 + Missense_Mutation SNP A A G TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr18:756710A>G c.118T>C c.(118-120)Tca>Cca p.S40P HNSC 18 724563 724563 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr18:724563G>A c.1493C>T c.(1492-1494)cCa>cTa p.P498L HNSC 18 743308 743308 + Nonsense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr18:743308G>A c.832C>T c.(832-834)Cga>Tga p.R278* KIPAN 18 743325 743325 + Missense_Mutation SNP A A C TCGA-CW-5588-01A-01D-1534-10 TCGA-CW-5588-11A-01D-1535-10 g.chr18:743325A>C c.815T>G c.(814-816)aTc>aGc p.I272S KIPAN 18 756694 756694 + Missense_Mutation SNP G G A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr18:756694G>A c.134C>T c.(133-135)tCt>tTt p.S45F KIRC 18 743325 743325 + Missense_Mutation SNP A A C TCGA-CW-5588-01A-01D-1534-10 TCGA-CW-5588-11A-01D-1535-10 g.chr18:743325A>C c.815T>G c.(814-816)aTc>aGc p.I272S KIRP 18 756694 756694 + Missense_Mutation SNP G G A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr18:756694G>A c.134C>T c.(133-135)tCt>tTt p.S45F LGG 18 743026 743026 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:743026G>T c.952C>A c.(952-954)Ctt>Att p.L318I LGG 18 756710 756710 + Missense_Mutation SNP A A G TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr18:756710A>G c.118T>C c.(118-120)Tca>Cca p.S40P LIHC 18 742994 742994 + Silent SNP T T C TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr18:742994T>C c.984A>G c.(982-984)agA>agG p.R328R LIHC 18 743374 743375 + Frame_Shift_Del DEL GA GA - TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr18:743374_743375delGA c.765_766delTC c.(763-768)tgtccafs p.P256fs LIHC 18 745776 745776 + Missense_Mutation SNP T T C TCGA-G3-A25Z-01A-11D-A16V-10 TCGA-G3-A25Z-10A-01D-A16V-10 g.chr18:745776T>C c.656A>G c.(655-657)aAt>aGt p.N219S LUAD 18 724522 724522 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr18:724522C>A c.1534G>T c.(1534-1536)Gac>Tac p.D512Y LUAD 18 732913 732913 + Silent SNP C C A TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr18:732913C>A c.1344G>T c.(1342-1344)cgG>cgT p.R448R LUAD 18 736907 736907 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr18:736907G>A c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W LUAD 18 743036 743036 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr18:743036T>C c.942A>G c.(940-942)ccA>ccG p.P314P LUAD 18 743353 743353 + Nonsense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr18:743353G>A c.787C>T c.(787-789)Caa>Taa p.Q263* LUAD 18 756705 756705 + Silent SNP T T C TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr18:756705T>C c.123A>G c.(121-123)ccA>ccG p.P41P LUSC 18 724498 724498 + Missense_Mutation SNP C C T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr18:724498C>T c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K LUSC 18 743305 743305 + Silent SNP G G A TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr18:743305G>A c.835C>T c.(835-837)Cta>Tta p.L279L OV 18 724573 724573 + Nonsense_Mutation SNP G G A TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr18:724573G>A c.1483C>T c.(1483-1485)Cag>Tag p.Q495* PAAD 18 756664 756664 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:756664C>A c.164G>T c.(163-165)aGc>aTc p.S55I READ 18 746048 746048 + Nonsense_Mutation SNP C C T TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr18:746048C>T c.474G>A c.(472-474)tgG>tgA p.W158* SARC 18 736829 736829 + Missense_Mutation SNP T T A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 g.chr18:736829T>A c.1270A>T c.(1270-1272)Aat>Tat p.N424Y SKCM 18 736817 736817 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr18:736817C>T c.1282G>A c.(1282-1284)Gca>Aca p.A428T SKCM 18 743027 743027 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr18:743027G>A c.951C>T c.(949-951)ttC>ttT p.F317F SKCM 18 747963 747963 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr18:747963G>A c.427C>T c.(427-429)Ccg>Tcg p.P143S SKCM 18 756658 756658 + Missense_Mutation SNP A A G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr18:756658A>G c.170T>C c.(169-171)cTt>cCt p.L57P SKCM 18 756666 756666 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr18:756666G>A c.162C>T c.(160-162)ttC>ttT p.F54F SKCM 18 756706 756706 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr18:756706G>A c.122C>T c.(121-123)cCa>cTa p.P41L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 724590 724590 single base substitution T C missense_variant Y489C 1466A>G BLCA-US 18 724590 724590 single base substitution T C missense_variant Y494C 1481A>G BRCA-EU 18 716669 716669 single base substitution C A downstream_gene_variant BRCA-EU 18 717101 717101 single base substitution C A downstream_gene_variant BRCA-EU 18 720688 720688 single base substitution G A downstream_gene_variant BRCA-EU 18 722502 722502 single base substitution T A 3_prime_UTR_variant BRCA-EU 18 723645 723645 single base substitution T C 3_prime_UTR_variant BRCA-EU 18 724268 724268 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 725843 725843 single base substitution C T intron_variant BRCA-EU 18 726713 726713 single base substitution G A intron_variant BRCA-EU 18 726921 726921 single base substitution C T intron_variant BRCA-EU 18 728994 728994 single base substitution T G intron_variant BRCA-EU 18 729734 729734 single base substitution C G intron_variant BRCA-EU 18 730141 730141 single base substitution G C intron_variant BRCA-EU 18 732772 732772 single base substitution C G intron_variant BRCA-EU 18 734964 734964 single base substitution C T intron_variant BRCA-EU 18 735275 735275 deletion of <=200bp A - intron_variant BRCA-EU 18 736474 736474 single base substitution T G intron_variant BRCA-EU 18 737936 737936 single base substitution G A intron_variant BRCA-EU 18 738805 738805 single base substitution T C intron_variant BRCA-EU 18 739826 739826 deletion of <=200bp A - intron_variant BRCA-EU 18 740059 740059 deletion of <=200bp T - intron_variant BRCA-EU 18 742840 742840 single base substitution T C intron_variant BRCA-EU 18 743502 743502 single base substitution G C intron_variant BRCA-EU 18 744506 744506 single base substitution C T intron_variant BRCA-EU 18 744935 744935 single base substitution G A intron_variant BRCA-EU 18 745078 745078 single base substitution C T intron_variant BRCA-EU 18 746125 746125 single base substitution T A intron_variant BRCA-EU 18 748927 748927 single base substitution G A downstream_gene_variant BRCA-EU 18 748927 748927 single base substitution G A intron_variant BRCA-EU 18 750072 750072 single base substitution T C downstream_gene_variant BRCA-EU 18 750072 750072 single base substitution T C intron_variant BRCA-EU 18 751640 751640 single base substitution G T downstream_gene_variant BRCA-EU 18 751640 751640 single base substitution G T intron_variant BRCA-EU 18 751828 751828 single base substitution G C downstream_gene_variant BRCA-EU 18 751828 751828 single base substitution G C intron_variant BRCA-EU 18 752425 752425 single base substitution G A downstream_gene_variant BRCA-EU 18 752425 752425 single base substitution G A intron_variant BRCA-EU 18 753491 753491 single base substitution A T downstream_gene_variant BRCA-EU 18 753491 753491 single base substitution A T intron_variant BRCA-EU 18 754261 754261 single base substitution T C downstream_gene_variant BRCA-EU 18 754261 754261 single base substitution T C intron_variant BRCA-EU 18 755533 755533 single base substitution T A downstream_gene_variant BRCA-EU 18 755533 755533 single base substitution T A intron_variant BRCA-EU 18 756125 756125 single base substitution T C downstream_gene_variant BRCA-EU 18 756125 756125 single base substitution T C intron_variant BRCA-EU 18 756701 756701 single base substitution G A exon_variant BRCA-EU 18 756701 756701 single base substitution G A missense_variant P43S 127C>T BRCA-EU 18 756701 756701 single base substitution G A missense_variant P48S 142C>T BRCA-EU 18 761309 761309 single base substitution C G intron_variant BRCA-EU 18 762103 762103 single base substitution C A intron_variant BRCA-EU 18 762633 762633 insertion of <=200bp - A intron_variant BRCA-EU 18 762828 762828 single base substitution C G intron_variant BRCA-EU 18 764549 764549 single base substitution G C intron_variant BRCA-EU 18 765439 765439 single base substitution G T intron_variant BRCA-EU 18 765551 765551 single base substitution C T intron_variant BRCA-EU 18 766318 766318 single base substitution C T intron_variant BRCA-EU 18 766873 766873 single base substitution C T intron_variant BRCA-EU 18 767403 767403 single base substitution C T intron_variant BRCA-EU 18 767764 767764 single base substitution C T intron_variant BRCA-EU 18 768679 768679 single base substitution C G intron_variant BRCA-EU 18 769197 769197 single base substitution C T intron_variant BRCA-EU 18 769779 769779 single base substitution T G intron_variant BRCA-EU 18 769785 769785 single base substitution A G intron_variant BRCA-EU 18 770460 770460 insertion of <=200bp - T intron_variant BRCA-EU 18 772442 772442 deletion of <=200bp T - intron_variant BRCA-EU 18 777127 777127 single base substitution G C intron_variant BRCA-EU 18 777127 777127 single base substitution G C upstream_gene_variant BRCA-EU 18 778827 778827 single base substitution G T intron_variant BRCA-EU 18 778827 778827 single base substitution G T upstream_gene_variant BRCA-EU 18 778971 778971 single base substitution A G intron_variant BRCA-EU 18 778971 778971 single base substitution A G upstream_gene_variant BRCA-EU 18 780449 780449 single base substitution C T intron_variant BRCA-EU 18 781952 781952 single base substitution G A intron_variant BRCA-EU 18 784050 784050 single base substitution T C intron_variant BRCA-EU 18 784527 784538 deletion of <=200bp CTTACAGTTCAG - intron_variant BRCA-EU 18 784634 784634 single base substitution C T intron_variant BRCA-EU 18 785629 785629 single base substitution T C intron_variant BRCA-EU 18 785967 785967 single base substitution C G intron_variant BRCA-EU 18 787841 787841 insertion of <=200bp - A intron_variant BRCA-EU 18 788078 788078 single base substitution C T intron_variant BRCA-EU 18 788516 788516 single base substitution A G intron_variant BRCA-EU 18 789220 789220 single base substitution G C intron_variant BRCA-EU 18 789900 789900 single base substitution A T intron_variant BRCA-EU 18 789992 789992 single base substitution G A intron_variant BRCA-EU 18 790101 790101 single base substitution G C intron_variant BRCA-EU 18 790721 790721 single base substitution A T intron_variant BRCA-EU 18 790939 790939 single base substitution T A intron_variant BRCA-EU 18 791761 791761 single base substitution C G intron_variant BRCA-EU 18 792352 792352 single base substitution G T intron_variant BRCA-EU 18 793532 793532 single base substitution C G intron_variant BRCA-EU 18 795212 795212 single base substitution T C intron_variant BRCA-EU 18 797463 797463 single base substitution C A intron_variant BRCA-EU 18 800148 800148 single base substitution G C intron_variant BRCA-EU 18 803219 803219 single base substitution G C intron_variant BRCA-EU 18 803255 803255 single base substitution C A intron_variant BRCA-EU 18 804319 804319 single base substitution A C intron_variant BRCA-EU 18 805714 805714 single base substitution A T intron_variant BRCA-EU 18 806428 806428 single base substitution T C intron_variant BRCA-EU 18 807673 807673 single base substitution C G intron_variant BRCA-EU 18 808974 808974 single base substitution G C intron_variant BRCA-EU 18 809033 809033 single base substitution G A intron_variant BRCA-EU 18 812094 812094 single base substitution G A intron_variant BRCA-EU 18 812818 812818 single base substitution T G upstream_gene_variant BRCA-EU 18 813856 813856 single base substitution G T upstream_gene_variant BRCA-EU 18 815334 815334 single base substitution C T upstream_gene_variant BRCA-EU 18 816334 816334 single base substitution C G upstream_gene_variant BRCA-EU 18 816821 816821 single base substitution C T upstream_gene_variant BRCA-EU 18 817527 817527 single base substitution T C upstream_gene_variant BRCA-FR 18 726713 726713 single base substitution G A intron_variant BRCA-FR 18 749811 749811 single base substitution G A downstream_gene_variant BRCA-FR 18 749811 749811 single base substitution G A intron_variant BRCA-FR 18 780449 780449 single base substitution C T intron_variant BRCA-FR 18 788078 788078 single base substitution C T intron_variant BRCA-FR 18 790939 790939 single base substitution T A intron_variant BRCA-FR 18 795535 795535 single base substitution G C intron_variant BRCA-FR 18 803255 803255 single base substitution C A intron_variant BRCA-FR 18 805714 805714 single base substitution A T intron_variant BRCA-FR 18 807673 807673 single base substitution C G intron_variant BRCA-FR 18 808521 808521 single base substitution C T intron_variant BRCA-FR 18 808974 808974 single base substitution G C intron_variant BRCA-UK 18 727333 727333 single base substitution C T intron_variant BRCA-UK 18 739380 739380 single base substitution G C intron_variant BRCA-UK 18 784050 784050 single base substitution T C intron_variant BRCA-UK 18 785967 785967 single base substitution C G intron_variant BRCA-UK 18 817471 817471 single base substitution G A upstream_gene_variant BRCA-US 18 743380 743380 single base substitution C G missense_variant V254L 760G>C BRCA-US 18 743380 743380 single base substitution C G missense_variant V259L 775G>C BRCA-US 18 756691 756691 single base substitution G A exon_variant BRCA-US 18 756691 756691 single base substitution G A missense_variant S46L 137C>T BRCA-US 18 756691 756691 single base substitution G A missense_variant S51L 152C>T BTCA-JP 18 739929 739929 single base substitution A T intron_variant BTCA-JP 18 756635 756635 single base substitution A C downstream_gene_variant BTCA-JP 18 756635 756635 single base substitution A C exon_variant BTCA-JP 18 756635 756635 single base substitution A C missense_variant S65A 193T>G BTCA-JP 18 756635 756635 single base substitution A C missense_variant S70A 208T>G CESC-US 18 724573 724573 single base substitution G A stop_gained Q495* 1483C>T CESC-US 18 724573 724573 single base substitution G A stop_gained Q500* 1498C>T CESC-US 18 742944 742944 single base substitution T G missense_variant Y345S 1034A>C CESC-US 18 742944 742944 single base substitution T G missense_variant Y350S 1049A>C CLLE-ES 18 716717 716717 single base substitution A G downstream_gene_variant CLLE-ES 18 720453 720453 single base substitution C G downstream_gene_variant CLLE-ES 18 732458 732458 deletion of <=200bp C - intron_variant CLLE-ES 18 743255 743255 single base substitution C T splice_region_variant CLLE-ES 18 748522 748522 single base substitution C A downstream_gene_variant CLLE-ES 18 748522 748522 single base substitution C A intron_variant CLLE-ES 18 750689 750689 single base substitution G C downstream_gene_variant CLLE-ES 18 750689 750689 single base substitution G C intron_variant CLLE-ES 18 757147 757147 single base substitution C A intron_variant CLLE-ES 18 758112 758112 single base substitution A G intron_variant CLLE-ES 18 761066 761066 single base substitution A G intron_variant CLLE-ES 18 775751 775751 single base substitution T C intron_variant CLLE-ES 18 775751 775751 single base substitution T C upstream_gene_variant CLLE-ES 18 789625 789625 single base substitution C T intron_variant CLLE-ES 18 801216 801216 single base substitution C T intron_variant CLLE-ES 18 804041 804041 single base substitution A C intron_variant CLLE-ES 18 814133 814133 single base substitution T C upstream_gene_variant COAD-US 18 724568 724568 single base substitution G T synonymous_variant G496G 1488C>A COAD-US 18 724568 724568 single base substitution G T synonymous_variant G501G 1503C>A COAD-US 18 745788 745788 single base substitution C A missense_variant R215M 644G>T COAD-US 18 745788 745788 single base substitution C A missense_variant R220M 659G>T COAD-US 18 747987 747987 single base substitution C T downstream_gene_variant COAD-US 18 747987 747987 single base substitution C T missense_variant A135T 403G>A COAD-US 18 747987 747987 single base substitution C T missense_variant A140T 418G>A COAD-US 18 756804 756804 single base substitution T G exon_variant COAD-US 18 756804 756804 single base substitution T G missense_variant E13D 39A>C COAD-US 18 756804 756804 single base substitution T G missense_variant E8D 24A>C COCA-CN 18 724597 724597 single base substitution G A stop_gained R487* 1459C>T COCA-CN 18 724597 724597 single base substitution G A stop_gained R492* 1474C>T COCA-CN 18 743436 743436 single base substitution T C intron_variant COCA-CN 18 747946 747946 single base substitution C T downstream_gene_variant COCA-CN 18 747946 747946 single base substitution C T synonymous_variant A148A 444G>A COCA-CN 18 747946 747946 single base substitution C T synonymous_variant A153A 459G>A COCA-CN 18 747961 747961 single base substitution C T downstream_gene_variant COCA-CN 18 747961 747961 single base substitution C T synonymous_variant P143P 429G>A COCA-CN 18 747961 747961 single base substitution C T synonymous_variant P148P 444G>A COCA-CN 18 768331 768331 single base substitution A G intron_variant EOPC-DE 18 755506 755506 single base substitution C T downstream_gene_variant EOPC-DE 18 755506 755506 single base substitution C T intron_variant EOPC-DE 18 782772 782772 single base substitution T A intron_variant ESAD-UK 18 717165 717165 single base substitution C T downstream_gene_variant ESAD-UK 18 717849 717849 single base substitution C A downstream_gene_variant ESAD-UK 18 719709 719709 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 720736 720736 single base substitution T C downstream_gene_variant ESAD-UK 18 721543 721543 single base substitution A C downstream_gene_variant ESAD-UK 18 722103 722103 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 723228 723228 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 723723 723723 single base substitution A T 3_prime_UTR_variant ESAD-UK 18 725815 725815 single base substitution C T intron_variant ESAD-UK 18 729109 729109 single base substitution A T intron_variant ESAD-UK 18 729421 729421 insertion of <=200bp - AAAT intron_variant ESAD-UK 18 730501 730501 single base substitution C T intron_variant ESAD-UK 18 730614 730614 single base substitution G A intron_variant ESAD-UK 18 734410 734410 single base substitution T A intron_variant ESAD-UK 18 736328 736328 deletion of <=200bp G - intron_variant ESAD-UK 18 737738 737738 single base substitution G C intron_variant ESAD-UK 18 737868 737868 single base substitution G A intron_variant ESAD-UK 18 738864 738864 single base substitution C T intron_variant ESAD-UK 18 739932 739932 single base substitution T G intron_variant ESAD-UK 18 743421 743421 single base substitution T C splice_region_variant ESAD-UK 18 743916 743916 single base substitution A T intron_variant ESAD-UK 18 744098 744104 deletion of <=200bp TACTTAG - intron_variant ESAD-UK 18 744824 744824 single base substitution G C intron_variant ESAD-UK 18 745277 745277 single base substitution G A intron_variant ESAD-UK 18 745571 745571 single base substitution G A intron_variant ESAD-UK 18 746671 746671 single base substitution T G intron_variant ESAD-UK 18 747379 747379 single base substitution G C downstream_gene_variant ESAD-UK 18 747379 747379 single base substitution G C intron_variant ESAD-UK 18 747573 747573 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 747573 747573 deletion of <=200bp A - intron_variant ESAD-UK 18 749157 749157 single base substitution T C downstream_gene_variant ESAD-UK 18 749157 749157 single base substitution T C intron_variant ESAD-UK 18 753803 753803 single base substitution G T downstream_gene_variant ESAD-UK 18 753803 753803 single base substitution G T intron_variant ESAD-UK 18 754277 754286 deletion of <=200bp GTTTATACTA - downstream_gene_variant ESAD-UK 18 754277 754286 deletion of <=200bp GTTTATACTA - intron_variant ESAD-UK 18 757099 757099 deletion of <=200bp A - intron_variant ESAD-UK 18 757575 757575 single base substitution C G intron_variant ESAD-UK 18 759468 759468 insertion of <=200bp - A intron_variant ESAD-UK 18 760517 760517 single base substitution C T intron_variant ESAD-UK 18 761705 761705 single base substitution T A intron_variant ESAD-UK 18 762277 762277 single base substitution G A intron_variant ESAD-UK 18 765908 765908 single base substitution G A intron_variant ESAD-UK 18 767165 767165 single base substitution A T intron_variant ESAD-UK 18 767166 767166 single base substitution T A intron_variant ESAD-UK 18 768509 768509 single base substitution C G intron_variant ESAD-UK 18 768641 768641 single base substitution C A intron_variant ESAD-UK 18 772441 772441 single base substitution C G intron_variant ESAD-UK 18 772885 772885 single base substitution T C intron_variant ESAD-UK 18 774833 774833 single base substitution A G intron_variant ESAD-UK 18 777738 777738 single base substitution G A intron_variant ESAD-UK 18 777738 777738 single base substitution G A upstream_gene_variant ESAD-UK 18 780246 780246 single base substitution A G intron_variant ESAD-UK 18 780246 780246 single base substitution A G upstream_gene_variant ESAD-UK 18 782232 782232 single base substitution C T intron_variant ESAD-UK 18 783133 783133 single base substitution C T intron_variant ESAD-UK 18 784967 784967 insertion of <=200bp - A intron_variant ESAD-UK 18 787695 787695 single base substitution A T intron_variant ESAD-UK 18 791936 791936 single base substitution A C intron_variant ESAD-UK 18 792869 792869 single base substitution G A intron_variant ESAD-UK 18 794564 794564 deletion of <=200bp A - intron_variant ESAD-UK 18 796543 796543 single base substitution G A intron_variant ESAD-UK 18 797119 797119 single base substitution G A intron_variant ESAD-UK 18 799602 799602 single base substitution A G intron_variant ESAD-UK 18 807322 807322 single base substitution G C intron_variant ESAD-UK 18 809286 809286 single base substitution A G intron_variant ESAD-UK 18 809446 809447 deletion of <=200bp GC - intron_variant ESAD-UK 18 812187 812187 single base substitution G C 5_prime_UTR_variant ESAD-UK 18 812187 812187 single base substitution G C exon_variant ESAD-UK 18 812187 812187 single base substitution G C intron_variant ESAD-UK 18 812778 812778 single base substitution C A upstream_gene_variant ESAD-UK 18 816427 816427 single base substitution T A upstream_gene_variant ESAD-UK 18 816490 816490 single base substitution G T upstream_gene_variant KIRC-US 18 743325 743325 single base substitution A C missense_variant I272S 815T>G KIRC-US 18 743325 743325 single base substitution A C missense_variant I277S 830T>G KIRP-US 18 756694 756694 single base substitution G A exon_variant KIRP-US 18 756694 756694 single base substitution G A missense_variant S45F 134C>T KIRP-US 18 756694 756694 single base substitution G A missense_variant S50F 149C>T LAML-KR 18 724697 724697 single base substitution A C intron_variant LGG-US 18 756710 756710 single base substitution A G exon_variant LGG-US 18 756710 756710 single base substitution A G missense_variant S40P 118T>C LGG-US 18 756710 756710 single base substitution A G missense_variant S45P 133T>C LICA-FR 18 730344 730345 deletion of <=200bp TT - intron_variant LICA-FR 18 731945 731945 single base substitution C T intron_variant LICA-FR 18 759555 759555 single base substitution G A intron_variant LICA-FR 18 780735 780735 single base substitution T A intron_variant LICA-FR 18 783882 783882 single base substitution T A intron_variant LICA-FR 18 796835 796835 single base substitution T C intron_variant LICA-FR 18 800059 800059 single base substitution G A intron_variant LICA-FR 18 807333 807334 deletion of <=200bp AA - intron_variant LIHC-US 18 742994 742994 single base substitution T C synonymous_variant R328R 984A>G LIHC-US 18 742994 742994 single base substitution T C synonymous_variant R333R 999A>G LIHC-US 18 745776 745776 single base substitution T C missense_variant N219S 656A>G LIHC-US 18 745776 745776 single base substitution T C missense_variant N224S 671A>G LIHC-US 18 747938 747938 single base substitution T C downstream_gene_variant LIHC-US 18 747938 747938 single base substitution T C missense_variant D151G 452A>G LIHC-US 18 747938 747938 single base substitution T C missense_variant D156G 467A>G LINC-JP 18 723686 723686 single base substitution T G 3_prime_UTR_variant LINC-JP 18 723702 723702 single base substitution T G 3_prime_UTR_variant LINC-JP 18 724540 724540 single base substitution T A missense_variant N506Y 1516A>T LINC-JP 18 724540 724540 single base substitution T A missense_variant N511Y 1531A>T LINC-JP 18 732925 732925 single base substitution T C synonymous_variant A444A 1332A>G LINC-JP 18 732925 732925 single base substitution T C synonymous_variant A449A 1347A>G LINC-JP 18 736853 736853 single base substitution C T missense_variant G416S 1246G>A LINC-JP 18 736853 736853 single base substitution C T missense_variant G421S 1261G>A LINC-JP 18 739929 739929 single base substitution A T intron_variant LINC-JP 18 742971 742971 single base substitution T C missense_variant Y336C 1007A>G LINC-JP 18 742971 742971 single base substitution T C missense_variant Y341C 1022A>G LINC-JP 18 743200 743200 single base substitution A G intron_variant LINC-JP 18 745931 745931 single base substitution T C intron_variant LINC-JP 18 748301 748301 single base substitution G T downstream_gene_variant LINC-JP 18 748301 748301 single base substitution G T intron_variant LINC-JP 18 749196 749196 single base substitution A T downstream_gene_variant LINC-JP 18 749196 749196 single base substitution A T intron_variant LINC-JP 18 752067 752067 single base substitution T C downstream_gene_variant LINC-JP 18 752067 752067 single base substitution T C intron_variant LINC-JP 18 756730 756730 single base substitution C G exon_variant LINC-JP 18 756730 756730 single base substitution C G missense_variant G33A 98G>C LINC-JP 18 756730 756730 single base substitution C G missense_variant G38A 113G>C LINC-JP 18 772352 772352 single base substitution G T intron_variant LINC-JP 18 779925 779925 single base substitution C T intron_variant LINC-JP 18 779925 779925 single base substitution C T upstream_gene_variant LIRI-JP 18 719226 719226 single base substitution C T downstream_gene_variant LIRI-JP 18 732998 732998 single base substitution T A intron_variant LIRI-JP 18 733832 733832 single base substitution T C intron_variant LIRI-JP 18 737616 737616 single base substitution T C intron_variant LIRI-JP 18 740032 740032 single base substitution T C intron_variant LIRI-JP 18 740204 740204 single base substitution G A intron_variant LIRI-JP 18 743202 743202 single base substitution T C intron_variant LIRI-JP 18 745563 745563 single base substitution T C intron_variant LIRI-JP 18 747748 747748 single base substitution T C downstream_gene_variant LIRI-JP 18 747748 747748 single base substitution T C intron_variant LIRI-JP 18 751572 751572 single base substitution A C downstream_gene_variant LIRI-JP 18 751572 751572 single base substitution A C intron_variant LIRI-JP 18 758634 758650 deletion of <=200bp CTTTCCTTATAATCAGT - intron_variant LIRI-JP 18 759132 759132 single base substitution A C intron_variant LIRI-JP 18 762585 762585 single base substitution T A intron_variant LIRI-JP 18 762602 762602 single base substitution T C intron_variant LIRI-JP 18 765920 765920 single base substitution T C intron_variant LIRI-JP 18 771444 771444 single base substitution C A intron_variant LIRI-JP 18 777455 777455 single base substitution C T intron_variant LIRI-JP 18 777455 777455 single base substitution C T upstream_gene_variant LIRI-JP 18 780691 780691 single base substitution G A intron_variant LIRI-JP 18 782696 782696 single base substitution T C intron_variant LIRI-JP 18 786159 786159 single base substitution T C intron_variant LIRI-JP 18 790474 790474 single base substitution T C intron_variant LIRI-JP 18 795949 795949 insertion of <=200bp - C intron_variant LIRI-JP 18 800462 800462 insertion of <=200bp - A intron_variant LIRI-JP 18 800557 800557 single base substitution C G intron_variant LIRI-JP 18 801470 801480 deletion of <=200bp AACTGCTATTC - intron_variant LIRI-JP 18 806940 806940 single base substitution A T intron_variant LIRI-JP 18 807906 807906 single base substitution T C intron_variant LIRI-JP 18 808045 808045 single base substitution T C intron_variant LIRI-JP 18 808826 808826 single base substitution C T intron_variant LIRI-JP 18 809084 809084 single base substitution A G intron_variant LIRI-JP 18 811855 811855 single base substitution C A intron_variant LIRI-JP 18 813385 813385 single base substitution G C upstream_gene_variant LIRI-JP 18 813809 813809 single base substitution A C upstream_gene_variant LIRI-JP 18 816043 816043 single base substitution A T upstream_gene_variant LIRI-JP 18 816192 816192 single base substitution G A upstream_gene_variant LIRI-JP 18 817320 817320 single base substitution A T upstream_gene_variant LUSC-KR 18 720853 720853 single base substitution C A downstream_gene_variant LUSC-KR 18 722830 722830 single base substitution C T 3_prime_UTR_variant LUSC-KR 18 722875 722875 single base substitution A G 3_prime_UTR_variant LUSC-KR 18 724535 724535 single base substitution C A synonymous_variant L507L 1521G>T LUSC-KR 18 724535 724535 single base substitution C A synonymous_variant L512L 1536G>T LUSC-KR 18 725104 725104 single base substitution C A intron_variant LUSC-KR 18 728630 728630 single base substitution G A intron_variant LUSC-KR 18 734745 734745 single base substitution T A intron_variant LUSC-KR 18 735569 735569 single base substitution C T intron_variant LUSC-KR 18 735822 735822 single base substitution G A intron_variant LUSC-KR 18 746285 746285 single base substitution C G intron_variant LUSC-KR 18 746522 746522 single base substitution G A intron_variant LUSC-KR 18 748886 748886 single base substitution C A downstream_gene_variant LUSC-KR 18 748886 748886 single base substitution C A intron_variant LUSC-KR 18 757091 757091 single base substitution A G intron_variant LUSC-KR 18 768734 768734 single base substitution T G intron_variant LUSC-KR 18 771868 771868 single base substitution T A intron_variant LUSC-KR 18 779382 779382 single base substitution G A intron_variant LUSC-KR 18 779382 779382 single base substitution G A upstream_gene_variant LUSC-KR 18 779651 779651 single base substitution C A intron_variant LUSC-KR 18 779651 779651 single base substitution C A upstream_gene_variant LUSC-KR 18 782240 782240 single base substitution C G intron_variant LUSC-KR 18 789754 789754 single base substitution G A intron_variant LUSC-KR 18 792586 792586 single base substitution G A intron_variant LUSC-KR 18 797634 797634 single base substitution T A intron_variant LUSC-KR 18 799826 799826 single base substitution C G intron_variant LUSC-KR 18 802956 802956 single base substitution T C intron_variant LUSC-KR 18 803939 803939 single base substitution T A intron_variant LUSC-KR 18 812168 812168 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 18 812168 812168 single base substitution G C exon_variant LUSC-KR 18 812168 812168 single base substitution G C intron_variant LUSC-KR 18 812256 812256 single base substitution C A exon_variant LUSC-KR 18 812256 812256 single base substitution C A intron_variant LUSC-KR 18 812256 812256 single base substitution C A upstream_gene_variant LUSC-KR 18 813948 813948 single base substitution C A upstream_gene_variant LUSC-US 18 724498 724498 single base substitution C T missense_variant E520K 1558G>A LUSC-US 18 724498 724498 single base substitution C T missense_variant E525K 1573G>A LUSC-US 18 743305 743305 single base substitution G A synonymous_variant L279L 835C>T LUSC-US 18 743305 743305 single base substitution G A synonymous_variant L284L 850C>T MALY-DE 18 723661 723661 single base substitution A G 3_prime_UTR_variant MALY-DE 18 724596 724596 single base substitution C T missense_variant R487Q 1460G>A MALY-DE 18 724596 724596 single base substitution C T missense_variant R492Q 1475G>A MALY-DE 18 733928 733928 single base substitution A T intron_variant MALY-DE 18 734929 734929 single base substitution G A intron_variant MALY-DE 18 737117 737117 single base substitution C A intron_variant MALY-DE 18 749240 749240 single base substitution T G downstream_gene_variant MALY-DE 18 749240 749240 single base substitution T G intron_variant MALY-DE 18 752960 752960 single base substitution A C downstream_gene_variant MALY-DE 18 752960 752960 single base substitution A C intron_variant MALY-DE 18 756389 756389 single base substitution C T downstream_gene_variant MALY-DE 18 756389 756389 single base substitution C T intron_variant MALY-DE 18 758234 758234 single base substitution A G intron_variant MALY-DE 18 760632 760632 single base substitution C A intron_variant MALY-DE 18 762468 762468 single base substitution G A intron_variant MALY-DE 18 766785 766785 single base substitution G T intron_variant MALY-DE 18 767129 767129 single base substitution T G intron_variant MALY-DE 18 767714 767714 single base substitution A G intron_variant MALY-DE 18 768694 768697 deletion of <=200bp TTAT - intron_variant MALY-DE 18 777709 777709 single base substitution G A intron_variant MALY-DE 18 777709 777709 single base substitution G A upstream_gene_variant MALY-DE 18 780019 780019 single base substitution G A intron_variant MALY-DE 18 780019 780019 single base substitution G A upstream_gene_variant MALY-DE 18 783392 783393 deletion of <=200bp AC - intron_variant MALY-DE 18 787711 787711 deletion of <=200bp A - intron_variant MALY-DE 18 796375 796375 single base substitution G A intron_variant MALY-DE 18 796732 796732 single base substitution G A intron_variant MALY-DE 18 802661 802661 single base substitution T G intron_variant MALY-DE 18 803075 803075 deletion of <=200bp A - intron_variant MALY-DE 18 812985 812985 single base substitution C T upstream_gene_variant MALY-DE 18 814133 814133 deletion of <=200bp T - upstream_gene_variant MALY-DE 18 816053 816053 single base substitution T C upstream_gene_variant MALY-DE 18 817262 817262 single base substitution G A upstream_gene_variant MELA-AU 18 716636 716636 single base substitution G A downstream_gene_variant MELA-AU 18 716693 716693 single base substitution G A downstream_gene_variant MELA-AU 18 717579 717579 single base substitution A T downstream_gene_variant MELA-AU 18 717648 717648 single base substitution C T downstream_gene_variant MELA-AU 18 717903 717903 single base substitution G A downstream_gene_variant MELA-AU 18 718009 718009 single base substitution C T downstream_gene_variant MELA-AU 18 718105 718105 single base substitution G A downstream_gene_variant MELA-AU 18 718122 718122 single base substitution G A downstream_gene_variant MELA-AU 18 718332 718332 single base substitution G T downstream_gene_variant MELA-AU 18 718864 718864 single base substitution G A downstream_gene_variant MELA-AU 18 718925 718925 single base substitution G A downstream_gene_variant MELA-AU 18 718942 718942 single base substitution G A downstream_gene_variant MELA-AU 18 719521 719521 single base substitution T A downstream_gene_variant MELA-AU 18 720130 720130 single base substitution G A downstream_gene_variant MELA-AU 18 721298 721298 single base substitution G A downstream_gene_variant MELA-AU 18 721491 721491 single base substitution T A downstream_gene_variant MELA-AU 18 721691 721691 single base substitution T A 3_prime_UTR_variant MELA-AU 18 721691 721691 single base substitution T A downstream_gene_variant MELA-AU 18 722053 722053 single base substitution G A 3_prime_UTR_variant MELA-AU 18 722259 722259 single base substitution G A 3_prime_UTR_variant MELA-AU 18 723511 723511 single base substitution C T 3_prime_UTR_variant MELA-AU 18 724267 724267 single base substitution G A 3_prime_UTR_variant MELA-AU 18 724386 724386 single base substitution T A 3_prime_UTR_variant MELA-AU 18 725196 725196 single base substitution G A intron_variant MELA-AU 18 725401 725401 single base substitution G A intron_variant MELA-AU 18 725639 725639 single base substitution G A intron_variant MELA-AU 18 726003 726003 single base substitution G A intron_variant MELA-AU 18 726188 726189 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 726301 726301 single base substitution T A intron_variant MELA-AU 18 726352 726352 single base substitution G A intron_variant MELA-AU 18 726360 726361 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 726400 726400 single base substitution G A intron_variant MELA-AU 18 726732 726732 single base substitution G A intron_variant MELA-AU 18 726992 726992 single base substitution A G intron_variant MELA-AU 18 727001 727001 single base substitution C T intron_variant MELA-AU 18 727600 727600 single base substitution G C intron_variant MELA-AU 18 727815 727815 single base substitution C T intron_variant MELA-AU 18 728104 728104 single base substitution G A intron_variant MELA-AU 18 728274 728274 single base substitution C T intron_variant MELA-AU 18 728402 728402 single base substitution A T intron_variant MELA-AU 18 729116 729116 single base substitution G C intron_variant MELA-AU 18 729770 729770 single base substitution G A intron_variant MELA-AU 18 729772 729772 single base substitution G A intron_variant MELA-AU 18 730105 730105 single base substitution G A intron_variant MELA-AU 18 730869 730869 single base substitution C T intron_variant MELA-AU 18 730885 730885 single base substitution G A intron_variant MELA-AU 18 731373 731373 single base substitution A G intron_variant MELA-AU 18 731473 731473 single base substitution G A intron_variant MELA-AU 18 731623 731623 single base substitution G A intron_variant MELA-AU 18 731773 731773 single base substitution C T intron_variant MELA-AU 18 732700 732700 single base substitution G A intron_variant MELA-AU 18 733506 733507 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 733523 733523 single base substitution C T intron_variant MELA-AU 18 733615 733615 single base substitution C T intron_variant MELA-AU 18 733920 733920 single base substitution C T intron_variant MELA-AU 18 733944 733944 single base substitution G A intron_variant MELA-AU 18 734172 734172 single base substitution G C intron_variant MELA-AU 18 734454 734454 single base substitution G A intron_variant MELA-AU 18 734660 734660 single base substitution C T intron_variant MELA-AU 18 735238 735238 single base substitution G A intron_variant MELA-AU 18 735397 735397 single base substitution G A intron_variant MELA-AU 18 736587 736587 single base substitution T C intron_variant MELA-AU 18 737211 737211 single base substitution G A intron_variant MELA-AU 18 738084 738084 single base substitution C T intron_variant MELA-AU 18 738749 738749 single base substitution G A intron_variant MELA-AU 18 739178 739178 single base substitution G A intron_variant MELA-AU 18 739596 739596 single base substitution G A intron_variant MELA-AU 18 739788 739788 single base substitution C T missense_variant E362K 1084G>A MELA-AU 18 739788 739788 single base substitution C T missense_variant E367K 1099G>A MELA-AU 18 739794 739794 single base substitution G A missense_variant L360F 1078C>T MELA-AU 18 739794 739794 single base substitution G A missense_variant L365F 1093C>T MELA-AU 18 739926 739926 single base substitution T A intron_variant MELA-AU 18 741023 741023 single base substitution G A intron_variant MELA-AU 18 741243 741243 single base substitution T C intron_variant MELA-AU 18 741714 741714 single base substitution G A intron_variant MELA-AU 18 742035 742035 single base substitution G A intron_variant MELA-AU 18 742036 742036 single base substitution G A intron_variant MELA-AU 18 742222 742222 single base substitution G A intron_variant MELA-AU 18 742488 742488 single base substitution G A intron_variant MELA-AU 18 742499 742499 single base substitution C T intron_variant MELA-AU 18 743027 743027 single base substitution G A synonymous_variant F317F 951C>T MELA-AU 18 743027 743027 single base substitution G A synonymous_variant F322F 966C>T MELA-AU 18 743395 743395 single base substitution G A missense_variant H249Y 745C>T MELA-AU 18 743395 743395 single base substitution G A missense_variant H254Y 760C>T MELA-AU 18 743678 743678 single base substitution C G intron_variant MELA-AU 18 744384 744384 single base substitution G A intron_variant MELA-AU 18 744827 744827 single base substitution G A intron_variant MELA-AU 18 745848 745848 single base substitution G A missense_variant S195F 584C>T MELA-AU 18 745848 745848 single base substitution G A missense_variant S200F 599C>T MELA-AU 18 746132 746133 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 18 746183 746183 single base substitution G A intron_variant MELA-AU 18 747963 747963 single base substitution G A downstream_gene_variant MELA-AU 18 747963 747963 single base substitution G A missense_variant P143S 427C>T MELA-AU 18 747963 747963 single base substitution G A missense_variant P148S 442C>T MELA-AU 18 748111 748111 single base substitution G A downstream_gene_variant MELA-AU 18 748111 748111 single base substitution G A intron_variant MELA-AU 18 748304 748304 single base substitution G A downstream_gene_variant MELA-AU 18 748304 748304 single base substitution G A intron_variant MELA-AU 18 749172 749172 single base substitution G A downstream_gene_variant MELA-AU 18 749172 749172 single base substitution G A intron_variant MELA-AU 18 749406 749406 single base substitution G A downstream_gene_variant MELA-AU 18 749406 749406 single base substitution G A intron_variant MELA-AU 18 749498 749498 single base substitution C A downstream_gene_variant MELA-AU 18 749498 749498 single base substitution C A intron_variant MELA-AU 18 750945 750945 single base substitution G A downstream_gene_variant MELA-AU 18 750945 750945 single base substitution G A intron_variant MELA-AU 18 751126 751126 single base substitution G A downstream_gene_variant MELA-AU 18 751126 751126 single base substitution G A intron_variant MELA-AU 18 751130 751130 single base substitution G A downstream_gene_variant MELA-AU 18 751130 751130 single base substitution G A intron_variant MELA-AU 18 751269 751269 single base substitution G A downstream_gene_variant MELA-AU 18 751269 751269 single base substitution G A intron_variant MELA-AU 18 752580 752580 single base substitution A G downstream_gene_variant MELA-AU 18 752580 752580 single base substitution A G intron_variant MELA-AU 18 752764 752764 single base substitution G A downstream_gene_variant MELA-AU 18 752764 752764 single base substitution G A intron_variant MELA-AU 18 753749 753749 single base substitution G A downstream_gene_variant MELA-AU 18 753749 753749 single base substitution G A intron_variant MELA-AU 18 754527 754527 single base substitution G A downstream_gene_variant MELA-AU 18 754527 754527 single base substitution G A intron_variant MELA-AU 18 754932 754932 single base substitution T A downstream_gene_variant MELA-AU 18 754932 754932 single base substitution T A intron_variant MELA-AU 18 755863 755863 single base substitution G A downstream_gene_variant MELA-AU 18 755863 755863 single base substitution G A intron_variant MELA-AU 18 756338 756338 single base substitution G A downstream_gene_variant MELA-AU 18 756338 756338 single base substitution G A intron_variant MELA-AU 18 757661 757661 single base substitution A T intron_variant MELA-AU 18 758189 758189 single base substitution G A intron_variant MELA-AU 18 758630 758630 single base substitution C T intron_variant MELA-AU 18 758983 758983 single base substitution G A intron_variant MELA-AU 18 759226 759226 single base substitution G A intron_variant MELA-AU 18 759294 759294 single base substitution C T intron_variant MELA-AU 18 759375 759375 single base substitution G A intron_variant MELA-AU 18 759399 759399 single base substitution G A intron_variant MELA-AU 18 759503 759503 single base substitution G A intron_variant MELA-AU 18 759689 759689 single base substitution G A intron_variant MELA-AU 18 759707 759707 single base substitution C T intron_variant MELA-AU 18 760035 760035 single base substitution G A intron_variant MELA-AU 18 760246 760246 single base substitution G A intron_variant MELA-AU 18 760585 760585 single base substitution C T intron_variant MELA-AU 18 760948 760948 single base substitution A C intron_variant MELA-AU 18 761444 761444 single base substitution G A intron_variant MELA-AU 18 762187 762187 single base substitution G A intron_variant MELA-AU 18 762728 762728 single base substitution G A intron_variant MELA-AU 18 763812 763812 single base substitution G A intron_variant MELA-AU 18 764644 764644 single base substitution G A intron_variant MELA-AU 18 766436 766436 single base substitution G A intron_variant MELA-AU 18 766805 766805 single base substitution T A intron_variant MELA-AU 18 767836 767837 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 767959 767959 single base substitution C A intron_variant MELA-AU 18 768365 768365 single base substitution G A intron_variant MELA-AU 18 768366 768366 single base substitution G T intron_variant MELA-AU 18 768647 768647 single base substitution G A intron_variant MELA-AU 18 768683 768683 single base substitution G T intron_variant MELA-AU 18 768972 768972 single base substitution G A intron_variant MELA-AU 18 769175 769175 single base substitution G A intron_variant MELA-AU 18 769690 769690 single base substitution T A intron_variant MELA-AU 18 770324 770324 single base substitution G A intron_variant MELA-AU 18 770546 770546 single base substitution C T intron_variant MELA-AU 18 770833 770833 single base substitution C T intron_variant MELA-AU 18 771120 771120 single base substitution C T intron_variant MELA-AU 18 771262 771262 single base substitution G A intron_variant MELA-AU 18 771831 771831 single base substitution G A intron_variant MELA-AU 18 772125 772125 single base substitution G A intron_variant MELA-AU 18 773036 773036 single base substitution A G intron_variant MELA-AU 18 773994 773995 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 774358 774358 single base substitution G A intron_variant MELA-AU 18 774365 774365 single base substitution G A intron_variant MELA-AU 18 774536 774536 single base substitution G A intron_variant MELA-AU 18 775003 775003 single base substitution G A intron_variant MELA-AU 18 775108 775108 single base substitution C T exon_variant MELA-AU 18 775108 775108 single base substitution C T intron_variant MELA-AU 18 775272 775272 single base substitution A G intron_variant MELA-AU 18 775272 775272 single base substitution A G upstream_gene_variant MELA-AU 18 775961 775961 single base substitution G A intron_variant MELA-AU 18 775961 775961 single base substitution G A upstream_gene_variant MELA-AU 18 776862 776862 single base substitution C T intron_variant MELA-AU 18 776862 776862 single base substitution C T upstream_gene_variant MELA-AU 18 777066 777066 single base substitution A T intron_variant MELA-AU 18 777066 777066 single base substitution A T upstream_gene_variant MELA-AU 18 777220 777220 single base substitution G A intron_variant MELA-AU 18 777220 777220 single base substitution G A upstream_gene_variant MELA-AU 18 778254 778254 single base substitution G A intron_variant MELA-AU 18 778254 778254 single base substitution G A upstream_gene_variant MELA-AU 18 778295 778295 single base substitution G A intron_variant MELA-AU 18 778295 778295 single base substitution G A upstream_gene_variant MELA-AU 18 778879 778879 single base substitution G A intron_variant MELA-AU 18 778879 778879 single base substitution G A upstream_gene_variant MELA-AU 18 779825 779825 single base substitution C A intron_variant MELA-AU 18 779825 779825 single base substitution C A upstream_gene_variant MELA-AU 18 780285 780285 single base substitution G A intron_variant MELA-AU 18 780286 780286 single base substitution G A intron_variant MELA-AU 18 781690 781690 single base substitution C T intron_variant MELA-AU 18 781764 781764 single base substitution C T intron_variant MELA-AU 18 781932 781932 single base substitution G A intron_variant MELA-AU 18 781965 781965 single base substitution G A intron_variant MELA-AU 18 781980 781980 single base substitution A G intron_variant MELA-AU 18 782943 782943 single base substitution G A intron_variant MELA-AU 18 783623 783623 single base substitution T C intron_variant MELA-AU 18 784808 784809 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 784809 784809 single base substitution G A intron_variant MELA-AU 18 785258 785258 single base substitution G A intron_variant MELA-AU 18 785347 785347 single base substitution G A intron_variant MELA-AU 18 785915 785916 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 786062 786062 single base substitution G A intron_variant MELA-AU 18 787132 787132 single base substitution C T intron_variant MELA-AU 18 787157 787157 single base substitution G A intron_variant MELA-AU 18 787391 787391 single base substitution G T intron_variant MELA-AU 18 787560 787560 single base substitution G A intron_variant MELA-AU 18 787775 787775 single base substitution C T intron_variant MELA-AU 18 788179 788179 single base substitution G A intron_variant MELA-AU 18 788464 788464 single base substitution A T intron_variant MELA-AU 18 788739 788739 single base substitution G A intron_variant MELA-AU 18 788885 788885 single base substitution C T intron_variant MELA-AU 18 788979 788979 single base substitution G A intron_variant MELA-AU 18 789276 789276 single base substitution A G intron_variant MELA-AU 18 790272 790272 single base substitution G A intron_variant MELA-AU 18 790560 790560 single base substitution G A intron_variant MELA-AU 18 791167 791167 single base substitution C T intron_variant MELA-AU 18 791453 791454 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 791654 791654 single base substitution A C intron_variant MELA-AU 18 791927 791927 single base substitution G A intron_variant MELA-AU 18 792111 792112 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 793104 793104 single base substitution G A intron_variant MELA-AU 18 793253 793253 single base substitution G A intron_variant MELA-AU 18 793303 793303 single base substitution G A intron_variant MELA-AU 18 794376 794376 single base substitution G A intron_variant MELA-AU 18 794491 794491 single base substitution G A intron_variant MELA-AU 18 794665 794665 single base substitution G A intron_variant MELA-AU 18 795359 795359 single base substitution G A intron_variant MELA-AU 18 795412 795412 single base substitution C T intron_variant MELA-AU 18 795529 795529 single base substitution G A intron_variant MELA-AU 18 796062 796062 deletion of <=200bp A - intron_variant MELA-AU 18 796541 796541 single base substitution C T intron_variant MELA-AU 18 798041 798041 single base substitution G A intron_variant MELA-AU 18 798227 798228 deletion of <=200bp TA - intron_variant MELA-AU 18 798346 798346 single base substitution C T intron_variant MELA-AU 18 799239 799239 single base substitution A T intron_variant MELA-AU 18 799604 799604 single base substitution G A intron_variant MELA-AU 18 801098 801098 single base substitution G A intron_variant MELA-AU 18 801229 801229 single base substitution G A intron_variant MELA-AU 18 801231 801231 single base substitution G A intron_variant MELA-AU 18 801865 801865 single base substitution G A intron_variant MELA-AU 18 802782 802782 single base substitution A G intron_variant MELA-AU 18 803865 803865 single base substitution C T intron_variant MELA-AU 18 804178 804179 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 18 804586 804586 single base substitution G A intron_variant MELA-AU 18 805672 805672 single base substitution C T intron_variant MELA-AU 18 806631 806631 single base substitution C T intron_variant MELA-AU 18 808588 808588 single base substitution G A intron_variant MELA-AU 18 808612 808612 single base substitution A G intron_variant MELA-AU 18 808874 808874 single base substitution C G intron_variant MELA-AU 18 809234 809234 single base substitution G A intron_variant MELA-AU 18 809236 809236 single base substitution A C intron_variant MELA-AU 18 809478 809478 single base substitution T C intron_variant MELA-AU 18 809570 809570 single base substitution G A intron_variant MELA-AU 18 809870 809870 single base substitution C T intron_variant MELA-AU 18 810413 810413 single base substitution A T intron_variant MELA-AU 18 811322 811322 single base substitution C T intron_variant MELA-AU 18 811412 811412 single base substitution C T intron_variant MELA-AU 18 812062 812062 single base substitution C T intron_variant MELA-AU 18 813440 813440 single base substitution A C upstream_gene_variant MELA-AU 18 813752 813752 single base substitution C T upstream_gene_variant MELA-AU 18 814004 814004 single base substitution C T upstream_gene_variant MELA-AU 18 814456 814456 single base substitution C T upstream_gene_variant MELA-AU 18 814529 814529 single base substitution C A upstream_gene_variant MELA-AU 18 814683 814683 single base substitution C T upstream_gene_variant MELA-AU 18 815006 815006 single base substitution G A upstream_gene_variant MELA-AU 18 816195 816195 single base substitution G A upstream_gene_variant MELA-AU 18 816289 816289 single base substitution C T upstream_gene_variant MELA-AU 18 816355 816355 single base substitution C T upstream_gene_variant MELA-AU 18 816461 816461 single base substitution G A upstream_gene_variant MELA-AU 18 816477 816477 single base substitution A C upstream_gene_variant MELA-AU 18 816704 816704 single base substitution T A upstream_gene_variant MELA-AU 18 817180 817180 single base substitution T A upstream_gene_variant MELA-AU 18 817224 817224 single base substitution C T upstream_gene_variant MELA-AU 18 817446 817446 single base substitution T C upstream_gene_variant ORCA-IN 18 807735 807735 single base substitution C T intron_variant ORCA-IN 18 813244 813244 single base substitution C T upstream_gene_variant OV-AU 18 734503 734503 single base substitution C A intron_variant OV-AU 18 745818 745818 single base substitution C T missense_variant R205K 614G>A OV-AU 18 745818 745818 single base substitution C T missense_variant R210K 629G>A OV-AU 18 754866 754866 single base substitution T A downstream_gene_variant OV-AU 18 754866 754866 single base substitution T A intron_variant OV-AU 18 760306 760306 single base substitution C G intron_variant OV-AU 18 773347 773347 single base substitution C T intron_variant OV-AU 18 773587 773587 single base substitution C T intron_variant OV-AU 18 774511 774511 single base substitution T C intron_variant OV-AU 18 774742 774742 single base substitution T C intron_variant OV-AU 18 775021 775021 single base substitution C T intron_variant OV-AU 18 779247 779247 single base substitution T A intron_variant OV-AU 18 779247 779247 single base substitution T A upstream_gene_variant OV-AU 18 779346 779346 single base substitution G C intron_variant OV-AU 18 779346 779346 single base substitution G C upstream_gene_variant OV-AU 18 792054 792054 single base substitution G A intron_variant OV-AU 18 802714 802714 single base substitution C T intron_variant OV-AU 18 810328 810328 single base substitution A T intron_variant OV-AU 18 813223 813223 single base substitution C A upstream_gene_variant OV-US 18 724573 724573 single base substitution G A stop_gained Q495* 1483C>T OV-US 18 724573 724573 single base substitution G A stop_gained Q500* 1498C>T PACA-AU 18 718448 718448 single base substitution G C downstream_gene_variant PACA-AU 18 718470 718470 single base substitution G C downstream_gene_variant PACA-AU 18 718710 718710 single base substitution G T downstream_gene_variant PACA-AU 18 718794 718794 single base substitution G T downstream_gene_variant PACA-AU 18 719103 719103 single base substitution G T downstream_gene_variant PACA-AU 18 719306 719306 single base substitution G C downstream_gene_variant PACA-AU 18 719361 719361 single base substitution G C downstream_gene_variant PACA-AU 18 719388 719388 single base substitution G C downstream_gene_variant PACA-AU 18 719603 719603 single base substitution G C downstream_gene_variant PACA-AU 18 719658 719658 single base substitution G A downstream_gene_variant PACA-AU 18 719683 719683 single base substitution G A downstream_gene_variant PACA-AU 18 719795 719795 single base substitution G T downstream_gene_variant PACA-AU 18 720712 720712 single base substitution G C downstream_gene_variant PACA-AU 18 720740 720740 single base substitution G C downstream_gene_variant PACA-AU 18 720805 720805 single base substitution G C downstream_gene_variant PACA-AU 18 724333 724335 deletion of <=200bp AAG - 3_prime_UTR_variant PACA-AU 18 727263 727263 single base substitution A G intron_variant PACA-AU 18 727598 727598 insertion of <=200bp - TTG intron_variant PACA-AU 18 733367 733367 single base substitution T C intron_variant PACA-AU 18 737833 737833 single base substitution C A intron_variant PACA-AU 18 741041 741041 single base substitution G A intron_variant PACA-AU 18 743914 743914 single base substitution A T intron_variant PACA-AU 18 746628 746628 single base substitution A G intron_variant PACA-AU 18 750023 750023 single base substitution T G downstream_gene_variant PACA-AU 18 750023 750023 single base substitution T G intron_variant PACA-AU 18 769295 769295 single base substitution G A intron_variant PACA-AU 18 777532 777532 single base substitution G T intron_variant PACA-AU 18 777532 777532 single base substitution G T upstream_gene_variant PACA-AU 18 783622 783622 single base substitution T C intron_variant PACA-AU 18 783623 783623 single base substitution T C intron_variant PACA-AU 18 788772 788772 single base substitution T A intron_variant PACA-AU 18 788944 788944 single base substitution A C intron_variant PACA-AU 18 789541 789541 single base substitution G T intron_variant PACA-AU 18 789542 789542 single base substitution C A intron_variant PACA-AU 18 790490 790490 insertion of <=200bp - A intron_variant PACA-AU 18 795483 795483 single base substitution C T intron_variant PACA-AU 18 796404 796404 single base substitution A G intron_variant PACA-AU 18 798246 798246 single base substitution A C intron_variant PACA-AU 18 812927 812927 single base substitution C T upstream_gene_variant PACA-AU 18 816654 816656 deletion of <=200bp CTC - upstream_gene_variant PACA-CA 18 717999 717999 single base substitution G A downstream_gene_variant PACA-CA 18 720224 720224 single base substitution G A downstream_gene_variant PACA-CA 18 721348 721348 single base substitution T C downstream_gene_variant PACA-CA 18 724268 724268 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 18 728760 728760 single base substitution G A intron_variant PACA-CA 18 732195 732195 single base substitution T C intron_variant PACA-CA 18 732365 732365 single base substitution G A intron_variant PACA-CA 18 737894 737894 deletion of <=200bp T - intron_variant PACA-CA 18 738243 738243 single base substitution C T intron_variant PACA-CA 18 739501 739501 single base substitution G T intron_variant PACA-CA 18 739508 739508 single base substitution C T intron_variant PACA-CA 18 745747 745747 single base substitution G A stop_gained Q229* 685C>T PACA-CA 18 745747 745747 single base substitution G A stop_gained Q234* 700C>T PACA-CA 18 747990 747990 single base substitution T C downstream_gene_variant PACA-CA 18 747990 747990 single base substitution T C missense_variant I134V 400A>G PACA-CA 18 747990 747990 single base substitution T C missense_variant I139V 415A>G PACA-CA 18 749393 749393 single base substitution G A downstream_gene_variant PACA-CA 18 749393 749393 single base substitution G A intron_variant PACA-CA 18 752147 752147 single base substitution A T downstream_gene_variant PACA-CA 18 752147 752147 single base substitution A T intron_variant PACA-CA 18 753185 753185 insertion of <=200bp - A downstream_gene_variant PACA-CA 18 753185 753185 insertion of <=200bp - A intron_variant PACA-CA 18 754514 754514 single base substitution T A downstream_gene_variant PACA-CA 18 754514 754514 single base substitution T A intron_variant PACA-CA 18 762633 762633 deletion of <=200bp A - intron_variant PACA-CA 18 764911 764911 insertion of <=200bp - T intron_variant PACA-CA 18 766749 766749 single base substitution T A intron_variant PACA-CA 18 773399 773399 single base substitution T G intron_variant PACA-CA 18 773978 773978 single base substitution G A intron_variant PACA-CA 18 775980 775980 deletion of <=200bp T - intron_variant PACA-CA 18 775980 775980 deletion of <=200bp T - upstream_gene_variant PACA-CA 18 778531 778531 deletion of <=200bp C - intron_variant PACA-CA 18 778531 778531 deletion of <=200bp C - upstream_gene_variant PACA-CA 18 780641 780641 single base substitution C T intron_variant PACA-CA 18 781851 781851 single base substitution G C intron_variant PACA-CA 18 783838 783838 single base substitution C T intron_variant PACA-CA 18 786151 786151 single base substitution C A intron_variant PACA-CA 18 789420 789420 single base substitution C T intron_variant PACA-CA 18 789625 789625 single base substitution C T intron_variant PACA-CA 18 792586 792586 single base substitution G A intron_variant PACA-CA 18 802760 802760 single base substitution G A intron_variant PACA-CA 18 809033 809033 single base substitution G A intron_variant PACA-CA 18 809776 809776 single base substitution C A intron_variant PACA-CA 18 816983 816983 deletion of <=200bp A - upstream_gene_variant PACA-CA 18 817321 817321 single base substitution A G upstream_gene_variant PAEN-AU 18 732019 732019 single base substitution T C intron_variant PAEN-AU 18 746275 746275 single base substitution A G intron_variant PAEN-AU 18 753140 753140 single base substitution G C downstream_gene_variant PAEN-AU 18 753140 753140 single base substitution G C intron_variant PAEN-AU 18 779078 779078 single base substitution T C intron_variant PAEN-AU 18 779078 779078 single base substitution T C upstream_gene_variant PAEN-AU 18 790460 790460 single base substitution C T intron_variant PAEN-AU 18 817540 817540 single base substitution T C upstream_gene_variant PAEN-IT 18 720391 720391 single base substitution C T downstream_gene_variant PBCA-DE 18 718595 718595 single base substitution G A downstream_gene_variant PBCA-DE 18 721125 721125 single base substitution A G downstream_gene_variant PBCA-DE 18 722175 722175 single base substitution A C 3_prime_UTR_variant PBCA-DE 18 722420 722420 single base substitution C T 3_prime_UTR_variant PBCA-DE 18 724511 724511 insertion of <=200bp - TA frameshift_variant E515E? PBCA-DE 18 724511 724511 insertion of <=200bp - TA frameshift_variant E520E? PBCA-DE 18 730061 730065 deletion of <=200bp TTTAA - intron_variant PBCA-DE 18 735892 735892 single base substitution C T intron_variant PBCA-DE 18 738057 738057 single base substitution T A intron_variant PBCA-DE 18 748644 748644 single base substitution G A downstream_gene_variant PBCA-DE 18 748644 748644 single base substitution G A intron_variant PBCA-DE 18 753492 753492 insertion of <=200bp - T downstream_gene_variant PBCA-DE 18 753492 753492 insertion of <=200bp - T intron_variant PBCA-DE 18 756192 756192 single base substitution T C downstream_gene_variant PBCA-DE 18 756192 756192 single base substitution T C intron_variant PBCA-DE 18 762261 762261 single base substitution G A intron_variant PBCA-DE 18 766034 766034 single base substitution C T intron_variant PBCA-DE 18 767815 767815 single base substitution C T intron_variant PBCA-DE 18 783392 783393 deletion of <=200bp AC - intron_variant PBCA-DE 18 792529 792530 deletion of <=200bp TC - intron_variant PBCA-DE 18 792870 792870 single base substitution A G intron_variant PBCA-DE 18 793862 793862 insertion of <=200bp - A intron_variant PBCA-DE 18 810490 810490 single base substitution T C intron_variant PBCA-DE 18 815443 815443 insertion of <=200bp - AAAT upstream_gene_variant PRAD-CA 18 741256 741256 single base substitution C T intron_variant PRAD-CA 18 746421 746421 single base substitution T C intron_variant PRAD-CA 18 772181 772181 single base substitution C T intron_variant PRAD-CA 18 776709 776709 single base substitution G A intron_variant PRAD-CA 18 776709 776709 single base substitution G A upstream_gene_variant PRAD-CA 18 783635 783635 single base substitution G T intron_variant PRAD-CA 18 793272 793272 single base substitution C T intron_variant PRAD-CA 18 795673 795673 single base substitution G A intron_variant PRAD-CA 18 802673 802673 single base substitution G A intron_variant PRAD-CA 18 817439 817439 single base substitution C G upstream_gene_variant PRAD-UK 18 727127 727127 single base substitution C A intron_variant PRAD-UK 18 742665 742665 single base substitution C A intron_variant PRAD-UK 18 751563 751563 single base substitution T C downstream_gene_variant PRAD-UK 18 751563 751563 single base substitution T C intron_variant PRAD-UK 18 757048 757048 single base substitution C T intron_variant PRAD-UK 18 763940 763940 single base substitution C G intron_variant PRAD-UK 18 764241 764241 single base substitution G A intron_variant PRAD-UK 18 805524 805524 single base substitution G A intron_variant PRAD-UK 18 814691 814691 single base substitution C G upstream_gene_variant PRAD-UK 18 816494 816494 single base substitution G A upstream_gene_variant READ-US 18 724435 724435 single base substitution C A stop_gained E541* 1621G>T READ-US 18 724435 724435 single base substitution C A stop_gained E546* 1636G>T RECA-EU 18 717419 717419 single base substitution G T downstream_gene_variant RECA-EU 18 724566 724566 single base substitution C G missense_variant C497S 1490G>C RECA-EU 18 724566 724566 single base substitution C G missense_variant C502S 1505G>C RECA-EU 18 744408 744408 single base substitution G T intron_variant RECA-EU 18 762986 762986 single base substitution A C intron_variant RECA-EU 18 766540 766540 single base substitution C T intron_variant RECA-EU 18 787568 787568 single base substitution G A intron_variant RECA-EU 18 817268 817268 single base substitution A C upstream_gene_variant SKCA-BR 18 716917 716917 single base substitution C T downstream_gene_variant SKCA-BR 18 717379 717379 single base substitution G A downstream_gene_variant SKCA-BR 18 717898 717898 single base substitution T G downstream_gene_variant SKCA-BR 18 718570 718570 single base substitution C T downstream_gene_variant SKCA-BR 18 719096 719096 single base substitution A G downstream_gene_variant SKCA-BR 18 723483 723483 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 724298 724298 single base substitution G T 3_prime_UTR_variant SKCA-BR 18 725006 725006 single base substitution G A intron_variant SKCA-BR 18 725150 725150 single base substitution G T intron_variant SKCA-BR 18 726208 726208 single base substitution G A intron_variant SKCA-BR 18 732924 732924 single base substitution G A synonymous_variant L445L 1333C>T SKCA-BR 18 732924 732924 single base substitution G A synonymous_variant L450L 1348C>T SKCA-BR 18 733915 733915 single base substitution G A intron_variant SKCA-BR 18 735161 735161 insertion of <=200bp - CAAAAAAA intron_variant SKCA-BR 18 736199 736216 deletion of <=200bp ACAGATAGGAAGGCATTC - intron_variant SKCA-BR 18 738690 738690 insertion of <=200bp - CA intron_variant SKCA-BR 18 740876 740876 single base substitution T C intron_variant SKCA-BR 18 744484 744484 single base substitution G A intron_variant SKCA-BR 18 746631 746631 single base substitution C T intron_variant SKCA-BR 18 747593 747593 single base substitution G A downstream_gene_variant SKCA-BR 18 747593 747593 single base substitution G A intron_variant SKCA-BR 18 751880 751880 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 18 751880 751880 insertion of <=200bp - CA intron_variant SKCA-BR 18 752339 752339 single base substitution G A downstream_gene_variant SKCA-BR 18 752339 752339 single base substitution G A intron_variant SKCA-BR 18 757250 757250 single base substitution T C intron_variant SKCA-BR 18 757299 757299 single base substitution T C intron_variant SKCA-BR 18 757311 757311 single base substitution G A intron_variant SKCA-BR 18 757326 757326 single base substitution A C intron_variant SKCA-BR 18 761167 761167 single base substitution A C intron_variant SKCA-BR 18 761201 761201 single base substitution A C intron_variant SKCA-BR 18 766435 766435 single base substitution G A intron_variant SKCA-BR 18 771368 771368 insertion of <=200bp - CA intron_variant SKCA-BR 18 771794 771794 single base substitution C T intron_variant SKCA-BR 18 774281 774281 single base substitution C T intron_variant SKCA-BR 18 775206 775206 single base substitution T G 5_prime_UTR_variant SKCA-BR 18 775206 775206 single base substitution T G intron_variant SKCA-BR 18 778203 778204 deletion of <=200bp TA - intron_variant SKCA-BR 18 778203 778204 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 18 779067 779067 single base substitution G A intron_variant SKCA-BR 18 779067 779067 single base substitution G A upstream_gene_variant SKCA-BR 18 781440 781440 single base substitution G A intron_variant SKCA-BR 18 783412 783414 deletion of <=200bp ACG - intron_variant SKCA-BR 18 786268 786268 single base substitution T G intron_variant SKCA-BR 18 786497 786497 insertion of <=200bp - TACACACAC intron_variant SKCA-BR 18 786497 786497 insertion of <=200bp - TAC intron_variant SKCA-BR 18 787532 787532 single base substitution G A intron_variant SKCA-BR 18 789980 789980 single base substitution A G intron_variant SKCA-BR 18 793044 793044 insertion of <=200bp - GTTT intron_variant SKCA-BR 18 793596 793596 single base substitution C T intron_variant SKCA-BR 18 794014 794014 single base substitution C T intron_variant SKCA-BR 18 796124 796124 single base substitution G A intron_variant SKCA-BR 18 796688 796688 single base substitution G A intron_variant SKCA-BR 18 800319 800319 single base substitution G A intron_variant SKCA-BR 18 803594 803594 single base substitution G A intron_variant SKCA-BR 18 805559 805559 single base substitution C G intron_variant SKCA-BR 18 807702 807702 single base substitution G A intron_variant SKCA-BR 18 808995 808995 single base substitution G C intron_variant SKCA-BR 18 809444 809444 single base substitution G A intron_variant SKCA-BR 18 812449 812449 single base substitution C T 5_prime_UTR_variant SKCA-BR 18 812449 812449 single base substitution C T upstream_gene_variant SKCA-BR 18 812564 812564 single base substitution T G upstream_gene_variant SKCA-BR 18 814980 814980 single base substitution C T upstream_gene_variant SKCA-BR 18 815213 815213 single base substitution C T upstream_gene_variant SKCA-BR 18 815298 815298 single base substitution C T upstream_gene_variant SKCA-BR 18 816344 816344 single base substitution T A upstream_gene_variant SKCM-US 18 736817 736817 single base substitution C T missense_variant A428T 1282G>A SKCM-US 18 736817 736817 single base substitution C T missense_variant A433T 1297G>A SKCM-US 18 743027 743027 single base substitution G A synonymous_variant F317F 951C>T SKCM-US 18 743027 743027 single base substitution G A synonymous_variant F322F 966C>T SKCM-US 18 747963 747963 single base substitution G A downstream_gene_variant SKCM-US 18 747963 747963 single base substitution G A missense_variant P143S 427C>T SKCM-US 18 747963 747963 single base substitution G A missense_variant P148S 442C>T SKCM-US 18 756658 756658 single base substitution A G downstream_gene_variant SKCM-US 18 756658 756658 single base substitution A G exon_variant SKCM-US 18 756658 756658 single base substitution A G missense_variant L57P 170T>C SKCM-US 18 756658 756658 single base substitution A G missense_variant L62P 185T>C SKCM-US 18 756666 756666 single base substitution G A downstream_gene_variant SKCM-US 18 756666 756666 single base substitution G A exon_variant SKCM-US 18 756666 756666 single base substitution G A synonymous_variant F54F 162C>T SKCM-US 18 756666 756666 single base substitution G A synonymous_variant F59F 177C>T SKCM-US 18 756706 756706 single base substitution G A exon_variant SKCM-US 18 756706 756706 single base substitution G A missense_variant P41L 122C>T SKCM-US 18 756706 756706 single base substitution G A missense_variant P46L 137C>T STAD-US 18 732849 732849 single base substitution G T synonymous_variant R470R 1408C>A STAD-US 18 732849 732849 single base substitution G T synonymous_variant R475R 1423C>A STAD-US 18 732942 732942 single base substitution T C missense_variant T439A 1315A>G STAD-US 18 732942 732942 single base substitution T C missense_variant T444A 1330A>G STAD-US 18 736827 736827 single base substitution A G synonymous_variant N424N 1272T>C STAD-US 18 736827 736827 single base substitution A G synonymous_variant N429N 1287T>C STAD-US 18 745763 745763 single base substitution A T stop_gained Y223* 669T>A STAD-US 18 745763 745763 single base substitution A T stop_gained Y228* 684T>A STAD-US 18 747955 747955 single base substitution A G downstream_gene_variant STAD-US 18 747955 747955 single base substitution A G synonymous_variant N145N 435T>C STAD-US 18 747955 747955 single base substitution A G synonymous_variant N150N 450T>C THCA-SA 18 723086 723086 single base substitution C T 3_prime_UTR_variant THCA-US 18 748002 748002 single base substitution C T downstream_gene_variant THCA-US 18 748002 748002 single base substitution C T missense_variant E130K 388G>A THCA-US 18 748002 748002 single base substitution C T missense_variant E135K 403G>A UCEC-US 18 732851 732851 deletion of <=200bp C - frameshift_variant G469 UCEC-US 18 732851 732851 deletion of <=200bp C - frameshift_variant G474 UCEC-US 18 732879 732879 single base substitution T G missense_variant I460L 1378A>C UCEC-US 18 732879 732879 single base substitution T G missense_variant I465L 1393A>C UCEC-US 18 736915 736915 single base substitution C T missense_variant R395Q 1184G>A UCEC-US 18 736915 736915 single base substitution C T missense_variant R400Q 1199G>A UCEC-US 18 739756 739756 single base substitution C T synonymous_variant Q372Q 1116G>A UCEC-US 18 739756 739756 single base substitution C T synonymous_variant Q377Q 1131G>A UCEC-US 18 743000 743000 single base substitution T G missense_variant K326N 978A>C UCEC-US 18 743000 743000 single base substitution T G missense_variant K331N 993A>C UCEC-US 18 745805 745805 single base substitution C A synonymous_variant V209V 627G>T UCEC-US 18 745805 745805 single base substitution C A synonymous_variant V214V 642G>T UCEC-US 18 745962 745963 deletion of <=200bp CT - frameshift_variant S187 UCEC-US 18 745962 745963 deletion of <=200bp CT - frameshift_variant S192 UCEC-US 18 746020 746020 single base substitution C A missense_variant A168S 502G>T UCEC-US 18 746020 746020 single base substitution C A missense_variant A173S 517G>T UCEC-US 18 747987 747987 single base substitution C T downstream_gene_variant UCEC-US 18 747987 747987 single base substitution C T missense_variant A135T 403G>A UCEC-US 18 747987 747987 single base substitution C T missense_variant A140T 418G>A UCEC-US 18 751726 751726 single base substitution C A downstream_gene_variant UCEC-US 18 751726 751726 single base substitution C A exon_variant UCEC-US 18 751726 751726 single base substitution C A missense_variant R117I 350G>T UCEC-US 18 751726 751726 single base substitution C A missense_variant R122I 365G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MR-06 COSM3527730 c.170T>C p.L57P Substitution - Missense 18:756658-756658 - TCGA-BT-A2LB-01 COSM3796519 c.1466A>G p.Y489C Substitution - Missense 18:724590-724590 - S02355 COSM5695757 c.991A>G p.K331E Substitution - Missense 18:742987-742987 - TCGA-CW-5588-01 COSM474046 c.815T>G p.I272S Substitution - Missense 18:743325-743325 - LUAD-NYU315 COSM373601 c.1113A>T p.P371P Substitution - coding silent 18:739759-739759 - TCGA-CM-5861-01 COSM1389762 c.1488C>A p.G496G Substitution - coding silent 18:724568-724568 - TCGA-D1-A177-01 COSM989975 c.502G>T p.A168S Substitution - Missense 18:746020-746020 - BN23T COSM1611425 c.98G>C p.G33A Substitution - Missense 18:756730-756730 - TCGA-AA-3663-01 COSM990013 c.403G>A p.A135T Substitution - Missense 18:747987-747987 - TCGA-EE-A2M5-06 COSM368371 c.427C>T p.P143S Substitution - Missense 18:747963-747963 - TCGA-BS-A0UV-01 COSM989969 c.627G>T p.V209V Substitution - coding silent 18:745805-745805 - TCGA-HJ-7597-01 COSM4073321 c.1408C>A p.R470R Substitution - coding silent 18:732849-732849 - TCGA-HU-A4GD-01 COSM4073323 c.1272T>C p.N424N Substitution - coding silent 18:736827-736827 - TCGA-HU-A4H4-01 COSM4073400 c.435T>C p.N145N Substitution - coding silent 18:747955-747955 - LIM1899 COSM4640169 c.428C>T p.P143L Substitution - Missense 18:747962-747962 - 16953 COSM49006 c.371+1G>T p.? Unknown 18:751704-751704 - T3202 COSM4741839 c.1516A>G p.N506D Substitution - Missense 18:724540-724540 - TCGA-BH-A0DG-01 COSM438389 c.760G>C p.V254L Substitution - Missense 18:743380-743380 - CHEWS005 COSM4580542 c.107C>T p.P36L Substitution - Missense 18:756721-756721 - TCGA-EE-A29E-06 COSM3527687 c.951C>T p.F317F Substitution - coding silent 18:743027-743027 - TCGA-IR-A3LI-01 COSM79318 c.1483C>T p.Q495* Substitution - Nonsense 18:724573-724573 - TCGA-GF-A6C9-06 COSM4901258 c.162C>T p.F54F Substitution - coding silent 18:756666-756666 - CRC-06T COSM5456675 c.444G>A p.A148A Substitution - coding silent 18:747946-747946 - PT55 COSM5942801 c.888G>A p.W296* Substitution - Nonsense 18:743090-743090 - PT13 COSM5896359 c.584C>T p.S195F Substitution - Missense 18:745848-745848 - TCGA-D5-6928-01 COSM1389819 c.644G>T p.R215M Substitution - Missense 18:745788-745788 - TCGA-60-2713-01 COSM708913 c.835C>T p.L279L Substitution - coding silent 18:743305-743305 - TCGA-BR-4362-01 COSM4073322 c.1315A>G p.T439A Substitution - Missense 18:732942-732942 - TCGA-BS-A0TC-01 COSM990024 c.350G>T p.R117I Substitution - Missense 18:751726-751726 - PCSI_0350_Pa_P_526 COSM3787527 c.685C>T p.Q229* Substitution - Nonsense 18:745747-745747 - T1764 COSM4741841 c.868G>A p.E290K Substitution - Missense 18:743272-743272 - PT42 COSM5926007 c.179C>A p.T60K Substitution - Missense 18:756649-756649 - TCGA-AX-A0J1-01 COSM990013 c.403G>A p.A135T Substitution - Missense 18:747987-747987 - 1953_T COSM3959401 c.825A>T p.E275D Substitution - Missense 18:743315-743315 - TCGA-23-1124-01 COSM79318 c.1483C>T p.Q495* Substitution - Nonsense 18:724573-724573 - 19M COSM5580013 c.1622A>T p.E541V Substitution - Missense 18:724434-724434 - MS3 COSM1165355 c.681A>T p.R227S Substitution - Missense 18:745751-745751 - BK0094 COSM4188878 c.1351A>G p.I451V Substitution - Missense 18:732906-732906 - TCGA-EL-A3CT-01 COSM3371112 c.388G>A p.E130K Substitution - Missense 18:748002-748002 - HCC49 COSM1611418 c.1007A>G p.Y336C Substitution - Missense 18:742971-742971 - AOCS-162-1-1 COSM4140176 c.614G>A p.R205K Substitution - Missense 18:745818-745818 - TCGA-G3-A25S-01 COSM4927029 c.984A>G p.R328R Substitution - coding silent 18:742994-742994 - TCGA-BS-A0UV-01 COSM989954 c.1116G>A p.Q372Q Substitution - coding silent 18:739756-739756 - HCC54 COSM1611412 c.1516A>T p.N506Y Substitution - Missense 18:724540-724540 - BN23 COSM1611425 c.98G>C p.G33A Substitution - Missense 18:756730-756730 - 082T COSM1730894 c.313A>G p.R105G Substitution - Missense 18:751763-751763 - YUMOBER COSM5388453 c.688T>C p.F230L Substitution - Missense 18:745744-745744 - tumor_4112447 COSM5948366 c.1460G>A p.R487Q Substitution - Missense 18:724596-724596 - ME041T COSM228200 c.1499C>T p.S500F Substitution - Missense 18:724557-724557 - TCGA-AA-3819-01 COSM294075 c.1027C>T p.P343S Substitution - Missense 18:742951-742951 - LUAD-S01357 COSM386860 c.484A>T p.K162* Substitution - Nonsense 18:746038-746038 - CSCC-11-T COSM228200 c.1499C>T p.S500F Substitution - Missense 18:724557-724557 - TCGA-CS-4942-01 COSM3970633 c.118T>C p.S40P Substitution - Missense 18:756710-756710 - TCGA-A2-A04W-01 COSM438397 c.137C>T p.S46L Substitution - Missense 18:756691-756691 - TCGA-G3-A25Z-01 COSM4922211 c.656A>G p.N219S Substitution - Missense 18:745776-745776 - C0094T COSM4154015 c.1490G>C p.C497S Substitution - Missense 18:724566-724566 - CSCC-20-T COSM4568436 c.1149T>C p.G383G Substitution - coding silent 18:736950-736950 - TCGA-B5-A0JZ-01 COSM989973 c.559_560delAG p.S187fs*1 Deletion - Frameshift 18:745962-745963 - YURTHE COSM1710935 c.332C>T p.S111L Substitution - Missense 18:751744-751744 - HCC162 COSM3718009 c.1246G>A p.G416S Substitution - Missense 18:736853-736853 - TCGA-D1-A101-01 COSM990026 c.206C>T p.T69M Substitution - Missense 18:756622-756622 - 372-01-7TD COSM5418481 c.880+5G>A p.? Unknown 18:743255-743255 - T3503 COSM4741840 c.1475C>T p.P492L Substitution - Missense 18:724581-724581 - TCGA-EI-6917-01 COSM3422330 c.1621G>T p.E541* Substitution - Nonsense 18:724435-724435 - TCGA-33-4583-01 COSM708929 c.1558G>A p.E520K Substitution - Missense 18:724498-724498 - J30_T COSM3959397 c.1521G>T p.L507L Substitution - coding silent 18:724535-724535 - TCGA-AX-A05Z-01 COSM989952 c.1184G>A p.R395Q Substitution - Missense 18:736915-736915 - TCGA-FS-A1ZC-06 COSM3527670 c.1282G>A p.A428T Substitution - Missense 18:736817-736817 - TCGA-CG-5721-01 COSM4073343 c.669T>A p.Y223* Substitution - Nonsense 18:745763-745763 - SJHGG074_D COSM4971447 c.151G>A p.A51T Substitution - Missense 18:756677-756677 - TCGA-EE-A183-06 COSM3527731 c.122C>T p.P41L Substitution - Missense 18:756706-756706 - 2290929 COSM4440509 c.832C>T p.R278* Substitution - Nonsense 18:743308-743308 - ASHPC_0005_Pa_P_1 COSM3787527 c.685C>T p.Q229* Substitution - Nonsense 18:745747-745747 - HCC54T COSM1611412 c.1516A>T p.N506Y Substitution - Missense 18:724540-724540 - LUAD-NYU1027 COSM368371 c.427C>T p.P143S Substitution - Missense 18:747963-747963 - HCC122 COSM1611416 c.1332A>G p.A444A Substitution - coding silent 18:732925-732925 - HCC49T COSM1611418 c.1007A>G p.Y336C Substitution - Missense 18:742971-742971 - 9 COSM4166960 c.1243T>C p.F415L Substitution - Missense 18:736856-736856 - TCGA-G3-A25S-01 COSM4927081 c.452A>G p.D151G Substitution - Missense 18:747938-747938 - TCGA-Q1-A5R1-01 COSM4818697 c.1034A>C p.Y345S Substitution - Missense 18:742944-742944 - WA7 COSM238459 c.711G>A p.V237V Substitution - coding silent 18:745721-745721 - SNUH_G10_S1 COSM4000471 c.592A>G p.I198V Substitution - Missense 18:745840-745840 - TCGA-BS-A0UF-01 COSM989950 c.1378A>C p.I460L Substitution - Missense 18:732879-732879 - PT37 COSM5921373 c.586C>T p.L196F Substitution - Missense 18:745846-745846 - TCGA-BG-A0VW-01 COSM989948 c.1406delG p.G469fs*9 Deletion - Frameshift 18:732851-732851 - TCGA-CA-6718-01 COSM1389822 c.24A>C p.E8D Substitution - Missense 18:756804-756804 - QC2-22-T2 COSM5652905 c.272-1G>A p.? Unknown 18:751805-751805 - TCGA-BQ-5878-01 COSM3989631 c.134C>T p.S45F Substitution - Missense 18:756694-756694 - EGC8 COSM5056141 c.551T>C p.V184A Substitution - Missense 18:745971-745971 - HCC162T COSM3718009 c.1246G>A p.G416S Substitution - Missense 18:736853-736853 - TCGA-B5-A11E-01 COSM989963 c.978A>C p.K326N Substitution - Missense 18:743000-743000 - LUAD-RT-S01818 COSM383919 c.87G>T p.V29V Substitution - coding silent 18:756741-756741 - PCSI_0256_Pa_P_526 COSM4963108 c.400A>G p.I134V Substitution - Missense 18:747990-747990 - 585258 COSM326894 c.253T>A p.Y85N Substitution - Missense 18:756575-756575 - CAL27 COSM3146564 c.1582G>A p.D528N Substitution - Missense 18:724474-724474 - 16951 COSM48846 c.473G>T p.W158L Substitution - Missense 18:746049-746049 - 013T COSM1727752 c.1133C>G p.A378G Substitution - Missense 18:739739-739739 - LUAD-RT-S01840 COSM384768 c.372G>T p.T124T Substitution - coding silent 18:748018-748018 - TCGA-AA-A010-01 COSM299630 c.371+4A>C p.? Unknown 18:751701-751701 - PT46 COSM5929840 c.1321C>T p.P441S Substitution - Missense 18:732936-732936 - HCC122T COSM1611416 c.1332A>G p.A444A Substitution - coding silent 18:732925-732925 - TCGA-B5-A0K0-01 COSM990028 c.64C>A p.P22T Substitution - Missense 18:756764-756764 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.194148 18p11.31-p11.21 164880 235309|dbSNP|BC048960|C/T|non-coding||3400|Candidate; 249463|dbSNP|BC048960|A/G|non-coding||3395|Validated; 890183|dbSNP|BC048960|A/G|non-coding||3396|Validated; 899476|dbSNP|BC048960|C/G|non-coding||3387|Validated; 2476514|dbSNP|BC048960|A/G|non-coding||3412|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I272S c.815T>G 18 743325 RCCC A G IntronicSNV . c.1-45129T>C 18 801956 CLL A G Missense p.L265P c.794T>C 18 743346 CM A G Missense p.S40P c.118T>C 18 756710 LGG A G Synonymous p.L356L c.1066T>C 18 739806 CM A T Missense p.Y85N c.253T>A 18 756575 SCLC C A Missense p.A168S c.502G>T 18 746020 UCEC C A Missense p.D512Y c.1534G>T 18 724522 LUAD C A Missense p.R117I c.350G>T 18 751726 UCEC C A Missense p.W158L c.473G>T 18 746049 LUAD C A SpliceDonorSNV . c.371+1G>T 18 751704 LUAD C - Frameshift p.G469Afs*9 c.1406delG 18 732851 UCEC C G Missense p.V254L c.760G>C 18 743380 BRCA C T 3-UTRSNV . c.1629+2007G>A 18 722420 MB CT - Frameshift p.S187*fs*1 c.559_560delAG 18 745962 UCEC C T Missense p.A428T c.1282G>A 18 736817 CM C T Missense p.E520K c.1558G>A 18 724498 LUSC G A Missense p.P143S c.427C>T 18 747963 CM G A Missense p.P343S c.1027C>T 18 742951 COREAD G A Missense p.P41L c.122C>T 18 756706 CM G A Missense p.P43L c.128C>T 18 756700 CM G A Missense p.S46L c.137C>T 18 756691 BRCA G A Missense p.S500F c.1499C>T 18 724557 CM G A Nonsense p.Q263* c.787C>T 18 743353 LUAD G A Nonsense p.Q495* c.1483C>T 18 724573 OV G A Nonsense p.R278* c.832C>T 18 743308 HNSC G A Synonymous p.L279L c.835C>T 18 743305 LUSC G C Nonsense p.S352* c.1055C>G 18 742923 BRCA T C 5-UTRSNV . c.1-1A>G 18 756828 CM T C Missense p.Y489C c.1466A>G 18 724590 BLCA T C Synonymous p.P41P c.123A>G 18 756705 LUAD