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 11 67059160 67059160 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr11:67059160G>A c.223G>A c.(223-225)Ggc>Agc p.G75S BLCA 11 67059207 67059207 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr11:67059207C>T c.270C>T c.(268-270)ttC>ttT p.F90F BLCA 11 67059632 67059632 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr11:67059632C>T c.451C>T c.(451-453)Cgt>Tgt p.R151C BLCA 11 67068497 67068497 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr11:67068497G>A c.849G>A c.(847-849)ccG>ccA p.P283P BLCA 11 67068531 67068531 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr11:67068531G>A c.883G>A c.(883-885)Gac>Aac p.D295N BLCA 11 67068616 67068616 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr11:67068616T>C c.968T>C c.(967-969)aTt>aCt p.I323T BRCA 11 67057631 67057631 + 5'UTR SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr11:67057631T>C BRCA 11 67057824 67057824 + 5'UTR SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 g.chr11:67057824C>T BRCA 11 67066560 67066560 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:67066560G>C c.502G>C c.(502-504)Gag>Cag p.E168Q BRCA 11 67066581 67066581 + Missense_Mutation SNP G G A TCGA-AR-A1AP-01A-11D-A12Q-09 TCGA-AR-A1AP-10A-01D-A12Q-09 g.chr11:67066581G>A c.523G>A c.(523-525)Ggc>Agc p.G175S CESC 11 67059210 67059210 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 g.chr11:67059210G>C c.273G>C c.(271-273)aaG>aaC p.K91N CESC 11 67069645 67069645 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 g.chr11:67069645C>T c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S COAD 11 67067040 67067040 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:67067040C>T c.577C>T c.(577-579)Cgc>Tgc p.R193C COAD 11 67067572 67067572 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:67067572G>A c.790G>A c.(790-792)Gag>Aag p.E264K COAD 11 67068554 67068554 + Silent SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:67068554T>C c.906T>C c.(904-906)gcT>gcC p.A302A COAD 11 67068554 67068554 + Silent SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr11:67068554T>C c.906T>C c.(904-906)gcT>gcC p.A302A COAD 11 67068554 67068554 + Silent SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr11:67068554T>C c.906T>C c.(904-906)gcT>gcC p.A302A COAD 11 67069609 67069609 + Nonsense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:67069609C>T c.1363C>T c.(1363-1365)Cag>Tag p.Q455* COAD 11 67069631 67069631 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:67069631G>A c.1385G>A c.(1384-1386)gGc>gAc p.G462D COADREAD 11 67059112 67059112 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:67059112C>T c.175C>T c.(175-177)Cgc>Tgc p.R59C COADREAD 11 67067040 67067040 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:67067040C>T c.577C>T c.(577-579)Cgc>Tgc p.R193C COADREAD 11 67067572 67067572 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:67067572G>A c.790G>A c.(790-792)Gag>Aag p.E264K COADREAD 11 67068554 67068554 + Silent SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:67068554T>C c.906T>C c.(904-906)gcT>gcC p.A302A COADREAD 11 67068554 67068554 + Silent SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr11:67068554T>C c.906T>C c.(904-906)gcT>gcC p.A302A COADREAD 11 67068554 67068554 + Silent SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr11:67068554T>C c.906T>C c.(904-906)gcT>gcC p.A302A COADREAD 11 67069609 67069609 + Nonsense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:67069609C>T c.1363C>T c.(1363-1365)Cag>Tag p.Q455* COADREAD 11 67069631 67069631 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:67069631G>A c.1385G>A c.(1384-1386)gGc>gAc p.G462D ESCA 11 67059125 67059125 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr11:67059125G>A c.188G>A c.(187-189)cGg>cAg p.R63Q ESCA 11 67067035 67067035 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr11:67067035G>A c.572G>A c.(571-573)cGc>cAc p.R191H ESCA 11 67067565 67067565 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr11:67067565C>A c.783C>A c.(781-783)cgC>cgA p.R261R ESCA 11 67068552 67068552 + Missense_Mutation SNP G G A TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr11:67068552G>A c.904G>A c.(904-906)Gct>Act p.A302T ESCA 11 67068775 67068775 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr11:67068775C>T c.993C>T c.(991-993)ctC>ctT p.L331L GBMLGG 11 67068588 67068588 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:67068588C>T c.940C>T c.(940-942)Cgc>Tgc p.R314C HNSC 11 67067492 67067492 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr11:67067492C>T c.710C>T c.(709-711)aCc>aTc p.T237I HNSC 11 67068516 67068516 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr11:67068516G>T c.868G>T c.(868-870)Gtg>Ttg p.V290L HNSC 11 67069025 67069031 + Frame_Shift_Del DEL GCATGGA GCATGGA - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr11:67069025_67069031delGCATGGA c.1154_1160delGCATGGA c.(1153-1161)ggcatggagfs p.GME385fs HNSC 11 67069049 67069049 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr11:67069049G>T c.1178G>T c.(1177-1179)cGg>cTg p.R393L HNSC 11 67069096 67069096 + Missense_Mutation SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr11:67069096C>T c.1225C>T c.(1225-1227)Ctt>Ttt p.L409F KIPAN 11 67057877 67057877 + Missense_Mutation SNP G G A TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr11:67057877G>A c.50G>A c.(49-51)aGg>aAg p.R17K KIPAN 11 67058950 67058950 + Missense_Mutation SNP C C A TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr11:67058950C>A c.94C>A c.(94-96)Ccc>Acc p.P32T KIPAN 11 67059495 67059495 + Missense_Mutation SNP A A G TCGA-DW-7842-01A-11D-2136-08 TCGA-DW-7842-10A-01D-2136-08 g.chr11:67059495A>G c.314A>G c.(313-315)gAc>gGc p.D105G KIPAN 11 67068486 67068486 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:67068486G>A c.838G>A c.(838-840)Gaa>Aaa p.E280K KIRC 11 67068486 67068486 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:67068486G>A c.838G>A c.(838-840)Gaa>Aaa p.E280K KIRP 11 67057877 67057877 + Missense_Mutation SNP G G A TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr11:67057877G>A c.50G>A c.(49-51)aGg>aAg p.R17K KIRP 11 67058950 67058950 + Missense_Mutation SNP C C A TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr11:67058950C>A c.94C>A c.(94-96)Ccc>Acc p.P32T KIRP 11 67059495 67059495 + Missense_Mutation SNP A A G TCGA-DW-7842-01A-11D-2136-08 TCGA-DW-7842-10A-01D-2136-08 g.chr11:67059495A>G c.314A>G c.(313-315)gAc>gGc p.D105G LGG 11 67068588 67068588 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:67068588C>T c.940C>T c.(940-942)Cgc>Tgc p.R314C LIHC 11 67067337 67067337 + Missense_Mutation SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr11:67067337A>G c.659A>G c.(658-660)cAg>cGg p.Q220R LIHC 11 67068507 67068507 + Missense_Mutation SNP G G A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr11:67068507G>A c.859G>A c.(859-861)Ggt>Agt p.G287S LIHC 11 67069033 67069033 + Missense_Mutation SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr11:67069033C>T c.1162C>T c.(1162-1164)Cgc>Tgc p.R388C LUAD 11 67058967 67058967 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr11:67058967G>C c.111G>C c.(109-111)gaG>gaC p.E37D LUAD 11 67059113 67059113 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr11:67059113G>T c.176G>T c.(175-177)cGc>cTc p.R59L LUAD 11 67066550 67066550 + Frame_Shift_Del DEL C C - TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr11:67066550delC c.492delC c.(490-492)ggcfs p.G164fs LUAD 11 67069117 67069117 + Missense_Mutation SNP G G A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr11:67069117G>A c.1246G>A c.(1246-1248)Gag>Aag p.E416K LUSC 11 67067552 67067552 + Missense_Mutation SNP G G T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr11:67067552G>T c.770G>T c.(769-771)cGg>cTg p.R257L OV 11 67068552 67068552 + Missense_Mutation SNP G G A TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 g.chr11:67068552G>A c.904G>A c.(904-906)Gct>Act p.A302T PAAD 11 67067334 67067334 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr11:67067334C>T c.656C>T c.(655-657)gCg>gTg p.A219V READ 11 67059112 67059112 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:67059112C>T c.175C>T c.(175-177)Cgc>Tgc p.R59C SARC 11 67059201 67059201 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr11:67059201C>T c.264C>T c.(262-264)ttC>ttT p.F88F SKCM 11 67059550 67059550 + Silent SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr11:67059550A>T c.369A>T c.(367-369)acA>acT p.T123T SKCM 11 67067323 67067323 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:67067323C>T c.645C>T c.(643-645)ttC>ttT p.F215F SKCM 11 67069777 67069777 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr11:67069777C>T c.1531C>T c.(1531-1533)Ctg>Ttg p.L511L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 11 67067599 67067599 single base substitution G T downstream_gene_variant BLCA-CN 11 67067599 67067599 single base substitution G T exon_variant BLCA-CN 11 67067599 67067599 single base substitution G T intron_variant BLCA-CN 11 67067599 67067599 single base substitution G T splice_region_variant BLCA-CN 11 67067599 67067599 single base substitution G T upstream_gene_variant BLCA-CN 11 67068867 67068867 single base substitution C T downstream_gene_variant BLCA-CN 11 67068867 67068867 single base substitution C T exon_variant BLCA-CN 11 67068867 67068867 single base substitution C T intron_variant BLCA-CN 11 67068867 67068867 single base substitution C T missense_variant S362L 1085C>T BLCA-CN 11 67068867 67068867 single base substitution C T missense_variant S449L 1346C>T BLCA-CN 11 67068867 67068867 single base substitution C T missense_variant S99L 296C>T BLCA-CN 11 67068867 67068867 single base substitution C T splice_region_variant BLCA-CN 11 67068867 67068867 single base substitution C T upstream_gene_variant BLCA-CN 11 67072393 67072393 single base substitution C T downstream_gene_variant BLCA-US 11 67051208 67051208 single base substitution C T upstream_gene_variant BLCA-US 11 67051768 67051768 single base substitution C T upstream_gene_variant BLCA-US 11 67052379 67052379 single base substitution C G upstream_gene_variant BLCA-US 11 67052909 67052909 single base substitution C T upstream_gene_variant BLCA-US 11 67059207 67059207 single base substitution C T downstream_gene_variant BLCA-US 11 67059207 67059207 single base substitution C T exon_variant BLCA-US 11 67059207 67059207 single base substitution C T synonymous_variant F177F 531C>T BLCA-US 11 67059207 67059207 single base substitution C T synonymous_variant F90F 270C>T BLCA-US 11 67059207 67059207 single base substitution C T upstream_gene_variant BLCA-US 11 67068497 67068497 single base substitution G A downstream_gene_variant BLCA-US 11 67068497 67068497 single base substitution G A exon_variant BLCA-US 11 67068497 67068497 single base substitution G A intron_variant BLCA-US 11 67068497 67068497 single base substitution G A synonymous_variant P20P 60G>A BLCA-US 11 67068497 67068497 single base substitution G A synonymous_variant P283P 849G>A BLCA-US 11 67068497 67068497 single base substitution G A synonymous_variant P370P 1110G>A BLCA-US 11 67068497 67068497 single base substitution G A upstream_gene_variant BLCA-US 11 67068616 67068616 single base substitution T C downstream_gene_variant BLCA-US 11 67068616 67068616 single base substitution T C intron_variant BLCA-US 11 67068616 67068616 single base substitution T C missense_variant I323T 968T>C BLCA-US 11 67068616 67068616 single base substitution T C missense_variant I410T 1229T>C BLCA-US 11 67068616 67068616 single base substitution T C missense_variant I60T 179T>C BLCA-US 11 67068616 67068616 single base substitution T C splice_region_variant BLCA-US 11 67068616 67068616 single base substitution T C upstream_gene_variant BLCA-US 11 67071614 67071614 single base substitution G A downstream_gene_variant BOCA-FR 11 67074582 67074582 single base substitution C T downstream_gene_variant BRCA-EU 11 67051316 67051318 deletion of <=200bp CTG - upstream_gene_variant BRCA-EU 11 67054460 67054460 single base substitution C T upstream_gene_variant BRCA-EU 11 67055178 67055178 single base substitution G A upstream_gene_variant BRCA-EU 11 67056095 67056095 single base substitution C G 5_prime_UTR_variant BRCA-EU 11 67056095 67056095 single base substitution C G upstream_gene_variant BRCA-EU 11 67057093 67057093 single base substitution C G intron_variant BRCA-EU 11 67057093 67057093 single base substitution C G upstream_gene_variant BRCA-EU 11 67059598 67059598 single base substitution C A downstream_gene_variant BRCA-EU 11 67059598 67059598 single base substitution C A exon_variant BRCA-EU 11 67059598 67059598 single base substitution C A synonymous_variant L139L 417C>A BRCA-EU 11 67059598 67059598 single base substitution C A synonymous_variant L226L 678C>A BRCA-EU 11 67059598 67059598 single base substitution C A upstream_gene_variant BRCA-EU 11 67059769 67059769 single base substitution G A downstream_gene_variant BRCA-EU 11 67059769 67059769 single base substitution G A intron_variant BRCA-EU 11 67059871 67059871 single base substitution G C downstream_gene_variant BRCA-EU 11 67059871 67059871 single base substitution G C intron_variant BRCA-EU 11 67060770 67060770 single base substitution C T downstream_gene_variant BRCA-EU 11 67060770 67060770 single base substitution C T intron_variant BRCA-EU 11 67060770 67060770 single base substitution C T upstream_gene_variant BRCA-EU 11 67061238 67061238 single base substitution C T downstream_gene_variant BRCA-EU 11 67061238 67061238 single base substitution C T intron_variant BRCA-EU 11 67061238 67061238 single base substitution C T upstream_gene_variant BRCA-EU 11 67061770 67061770 single base substitution G C downstream_gene_variant BRCA-EU 11 67061770 67061770 single base substitution G C intron_variant BRCA-EU 11 67061770 67061770 single base substitution G C upstream_gene_variant BRCA-EU 11 67062167 67062167 single base substitution A G downstream_gene_variant BRCA-EU 11 67062167 67062167 single base substitution A G intron_variant BRCA-EU 11 67062167 67062167 single base substitution A G upstream_gene_variant BRCA-EU 11 67062462 67062462 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 67062462 67062462 deletion of <=200bp T - intron_variant BRCA-EU 11 67062462 67062462 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 67062888 67062888 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 67062888 67062888 deletion of <=200bp A - intron_variant BRCA-EU 11 67062888 67062888 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 67063001 67063001 single base substitution A T downstream_gene_variant BRCA-EU 11 67063001 67063001 single base substitution A T intron_variant BRCA-EU 11 67063001 67063001 single base substitution A T upstream_gene_variant BRCA-EU 11 67063451 67063451 single base substitution G C downstream_gene_variant BRCA-EU 11 67063451 67063451 single base substitution G C intron_variant BRCA-EU 11 67063451 67063451 single base substitution G C upstream_gene_variant BRCA-EU 11 67063787 67063787 single base substitution G T downstream_gene_variant BRCA-EU 11 67063787 67063787 single base substitution G T intron_variant BRCA-EU 11 67063787 67063787 single base substitution G T upstream_gene_variant BRCA-EU 11 67066296 67066296 single base substitution C T exon_variant BRCA-EU 11 67066296 67066296 single base substitution C T intron_variant BRCA-EU 11 67066296 67066296 single base substitution C T upstream_gene_variant BRCA-EU 11 67069066 67069066 single base substitution C T downstream_gene_variant BRCA-EU 11 67069066 67069066 single base substitution C T exon_variant BRCA-EU 11 67069066 67069066 single base substitution C T intron_variant BRCA-EU 11 67069066 67069066 single base substitution C T missense_variant L136F 406C>T BRCA-EU 11 67069066 67069066 single base substitution C T missense_variant L399F 1195C>T BRCA-EU 11 67069066 67069066 single base substitution C T missense_variant L486F 1456C>T BRCA-EU 11 67070791 67070791 single base substitution C T downstream_gene_variant BRCA-EU 11 67072625 67072625 single base substitution G A downstream_gene_variant BRCA-EU 11 67073109 67073109 single base substitution G C downstream_gene_variant BRCA-EU 11 67073379 67073379 single base substitution G C downstream_gene_variant BRCA-EU 11 67073649 67073649 single base substitution A G downstream_gene_variant BRCA-EU 11 67074585 67074585 single base substitution G A downstream_gene_variant BRCA-FR 11 67059598 67059598 single base substitution C A downstream_gene_variant BRCA-FR 11 67059598 67059598 single base substitution C A exon_variant BRCA-FR 11 67059598 67059598 single base substitution C A synonymous_variant L139L 417C>A BRCA-FR 11 67059598 67059598 single base substitution C A synonymous_variant L226L 678C>A BRCA-FR 11 67059598 67059598 single base substitution C A upstream_gene_variant BRCA-FR 11 67060770 67060770 single base substitution C T downstream_gene_variant BRCA-FR 11 67060770 67060770 single base substitution C T intron_variant BRCA-FR 11 67060770 67060770 single base substitution C T upstream_gene_variant BRCA-FR 11 67073649 67073649 single base substitution A G downstream_gene_variant BRCA-KR 11 67066608 67066608 single base substitution A G exon_variant BRCA-KR 11 67066608 67066608 single base substitution A G intron_variant BRCA-KR 11 67066608 67066608 single base substitution A G upstream_gene_variant BRCA-UK 11 67061238 67061238 single base substitution C T downstream_gene_variant BRCA-UK 11 67061238 67061238 single base substitution C T intron_variant BRCA-UK 11 67061238 67061238 single base substitution C T upstream_gene_variant BRCA-UK 11 67063787 67063787 single base substitution G T downstream_gene_variant BRCA-UK 11 67063787 67063787 single base substitution G T intron_variant BRCA-UK 11 67063787 67063787 single base substitution G T upstream_gene_variant BRCA-US 11 67051331 67051331 deletion of <=200bp C - upstream_gene_variant BRCA-US 11 67051773 67051773 insertion of <=200bp - G upstream_gene_variant BRCA-US 11 67052502 67052502 single base substitution G C upstream_gene_variant BRCA-US 11 67057631 67057631 single base substitution T C 5_prime_UTR_variant BRCA-US 11 67057631 67057631 single base substitution T C exon_variant BRCA-US 11 67057631 67057631 single base substitution T C missense_variant V58A 173T>C BRCA-US 11 67057631 67057631 single base substitution T C upstream_gene_variant BRCA-US 11 67057824 67057824 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 67057824 67057824 single base substitution C T exon_variant BRCA-US 11 67057824 67057824 single base substitution C T synonymous_variant P86P 258C>T BRCA-US 11 67057824 67057824 single base substitution C T upstream_gene_variant BRCA-US 11 67059113 67059113 single base substitution G A downstream_gene_variant BRCA-US 11 67059113 67059113 single base substitution G A exon_variant BRCA-US 11 67059113 67059113 single base substitution G A missense_variant R146H 437G>A BRCA-US 11 67059113 67059113 single base substitution G A missense_variant R59H 176G>A BRCA-US 11 67059113 67059113 single base substitution G A upstream_gene_variant BRCA-US 11 67066560 67066560 single base substitution G C exon_variant BRCA-US 11 67066560 67066560 single base substitution G C missense_variant E168Q 502G>C BRCA-US 11 67066560 67066560 single base substitution G C missense_variant E255Q 763G>C BRCA-US 11 67066560 67066560 single base substitution G C upstream_gene_variant BRCA-US 11 67066581 67066581 single base substitution G A exon_variant BRCA-US 11 67066581 67066581 single base substitution G A missense_variant G175S 523G>A BRCA-US 11 67066581 67066581 single base substitution G A missense_variant G262S 784G>A BRCA-US 11 67066581 67066581 single base substitution G A upstream_gene_variant BRCA-US 11 67072316 67072316 single base substitution G T downstream_gene_variant BTCA-JP 11 67051487 67051489 deletion of <=200bp CTT - upstream_gene_variant BTCA-JP 11 67052342 67052342 single base substitution T C upstream_gene_variant BTCA-JP 11 67053894 67053894 deletion of <=200bp C - upstream_gene_variant BTCA-JP 11 67057109 67057109 single base substitution G C intron_variant BTCA-JP 11 67057109 67057109 single base substitution G C upstream_gene_variant BTCA-JP 11 67057346 67057346 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 11 67057346 67057346 single base substitution C T intron_variant BTCA-JP 11 67057346 67057346 single base substitution C T upstream_gene_variant BTCA-JP 11 67059430 67059430 single base substitution C T downstream_gene_variant BTCA-JP 11 67059430 67059430 single base substitution C T intron_variant BTCA-JP 11 67059430 67059430 single base substitution C T upstream_gene_variant BTCA-JP 11 67067563 67067563 single base substitution C T downstream_gene_variant BTCA-JP 11 67067563 67067563 single base substitution C T exon_variant BTCA-JP 11 67067563 67067563 single base substitution C T intron_variant BTCA-JP 11 67067563 67067563 single base substitution C T missense_variant R261C 781C>T BTCA-JP 11 67067563 67067563 single base substitution C T missense_variant R348C 1042C>T BTCA-JP 11 67067563 67067563 single base substitution C T upstream_gene_variant BTCA-JP 11 67068976 67068976 single base substitution G A downstream_gene_variant BTCA-JP 11 67068976 67068976 single base substitution G A exon_variant BTCA-JP 11 67068976 67068976 single base substitution G A intron_variant BTCA-JP 11 67068976 67068976 single base substitution G A missense_variant E106K 316G>A BTCA-JP 11 67068976 67068976 single base substitution G A missense_variant E369K 1105G>A BTCA-JP 11 67068976 67068976 single base substitution G A missense_variant E456K 1366G>A BTCA-JP 11 67071652 67071652 single base substitution C T downstream_gene_variant CESC-US 11 67052440 67052440 single base substitution G A upstream_gene_variant CESC-US 11 67053974 67053974 single base substitution G C upstream_gene_variant CESC-US 11 67059210 67059210 single base substitution G C downstream_gene_variant CESC-US 11 67059210 67059210 single base substitution G C exon_variant CESC-US 11 67059210 67059210 single base substitution G C missense_variant K178N 534G>C CESC-US 11 67059210 67059210 single base substitution G C missense_variant K91N 273G>C CESC-US 11 67059210 67059210 single base substitution G C upstream_gene_variant CESC-US 11 67069645 67069645 single base substitution C T downstream_gene_variant CESC-US 11 67069645 67069645 single base substitution C T exon_variant CESC-US 11 67069645 67069645 single base substitution C T intron_variant CESC-US 11 67069645 67069645 single base substitution C T missense_variant P204S 610C>T CESC-US 11 67069645 67069645 single base substitution C T missense_variant P467S 1399C>T CESC-US 11 67069645 67069645 single base substitution C T missense_variant P554S 1660C>T CESC-US 11 67072324 67072324 single base substitution C T downstream_gene_variant CLLE-ES 11 67056748 67056768 deletion of <=200bp GCCCCGCCCGCTCCGCCGCCC - 5_prime_UTR_variant CLLE-ES 11 67056748 67056768 deletion of <=200bp GCCCCGCCCGCTCCGCCGCCC - upstream_gene_variant CLLE-ES 11 67057103 67057103 single base substitution C G intron_variant CLLE-ES 11 67057103 67057103 single base substitution C G upstream_gene_variant COAD-US 11 67051378 67051378 single base substitution C T upstream_gene_variant COAD-US 11 67051736 67051736 single base substitution C T upstream_gene_variant COAD-US 11 67051746 67051748 deletion of <=200bp AGG - upstream_gene_variant COAD-US 11 67068972 67068972 single base substitution G A downstream_gene_variant COAD-US 11 67068972 67068972 single base substitution G A exon_variant COAD-US 11 67068972 67068972 single base substitution G A intron_variant COAD-US 11 67068972 67068972 single base substitution G A synonymous_variant P104P 312G>A COAD-US 11 67068972 67068972 single base substitution G A synonymous_variant P367P 1101G>A COAD-US 11 67068972 67068972 single base substitution G A synonymous_variant P454P 1362G>A COAD-US 11 67069048 67069048 single base substitution C T downstream_gene_variant COAD-US 11 67069048 67069048 single base substitution C T exon_variant COAD-US 11 67069048 67069048 single base substitution C T intron_variant COAD-US 11 67069048 67069048 single base substitution C T missense_variant R130W 388C>T COAD-US 11 67069048 67069048 single base substitution C T missense_variant R393W 1177C>T COAD-US 11 67069048 67069048 single base substitution C T missense_variant R480W 1438C>T COAD-US 11 67069631 67069631 single base substitution G A downstream_gene_variant COAD-US 11 67069631 67069631 single base substitution G A exon_variant COAD-US 11 67069631 67069631 single base substitution G A intron_variant COAD-US 11 67069631 67069631 single base substitution G A missense_variant G199D 596G>A COAD-US 11 67069631 67069631 single base substitution G A missense_variant G462D 1385G>A COAD-US 11 67069631 67069631 single base substitution G A missense_variant G549D 1646G>A COCA-CN 11 67052435 67052435 single base substitution G A upstream_gene_variant COCA-CN 11 67058699 67058699 single base substitution A T downstream_gene_variant COCA-CN 11 67058699 67058699 single base substitution A T exon_variant COCA-CN 11 67058699 67058699 single base substitution A T intron_variant COCA-CN 11 67058699 67058699 single base substitution A T upstream_gene_variant COCA-CN 11 67065542 67065542 single base substitution T C exon_variant COCA-CN 11 67065542 67065542 single base substitution T C intron_variant COCA-CN 11 67065542 67065542 single base substitution T C upstream_gene_variant COCA-CN 11 67066939 67066939 single base substitution G A exon_variant COCA-CN 11 67066939 67066939 single base substitution G A intron_variant COCA-CN 11 67066939 67066939 single base substitution G A upstream_gene_variant COCA-CN 11 67066982 67066982 single base substitution C T exon_variant COCA-CN 11 67066982 67066982 single base substitution C T intron_variant COCA-CN 11 67066982 67066982 single base substitution C T upstream_gene_variant COCA-CN 11 67067439 67067439 single base substitution T C intron_variant COCA-CN 11 67067439 67067439 single base substitution T C upstream_gene_variant COCA-CN 11 67071568 67071568 single base substitution C A downstream_gene_variant COCA-CN 11 67072314 67072314 single base substitution G A downstream_gene_variant ESAD-UK 11 67051793 67051793 single base substitution C T upstream_gene_variant ESAD-UK 11 67053816 67053816 single base substitution G A upstream_gene_variant ESAD-UK 11 67054933 67054933 single base substitution T C upstream_gene_variant ESAD-UK 11 67057292 67057292 single base substitution G A intron_variant ESAD-UK 11 67057292 67057292 single base substitution G A splice_region_variant ESAD-UK 11 67057292 67057292 single base substitution G A upstream_gene_variant ESAD-UK 11 67057317 67057317 single base substitution A T 5_prime_UTR_variant ESAD-UK 11 67057317 67057317 single base substitution A T intron_variant ESAD-UK 11 67057317 67057317 single base substitution A T upstream_gene_variant ESAD-UK 11 67058319 67058319 single base substitution G A downstream_gene_variant ESAD-UK 11 67058319 67058319 single base substitution G A exon_variant ESAD-UK 11 67058319 67058319 single base substitution G A intron_variant ESAD-UK 11 67058319 67058319 single base substitution G A upstream_gene_variant ESAD-UK 11 67061159 67061159 single base substitution T G downstream_gene_variant ESAD-UK 11 67061159 67061159 single base substitution T G intron_variant ESAD-UK 11 67061159 67061159 single base substitution T G upstream_gene_variant ESAD-UK 11 67061285 67061285 single base substitution A T downstream_gene_variant ESAD-UK 11 67061285 67061285 single base substitution A T intron_variant ESAD-UK 11 67061285 67061285 single base substitution A T upstream_gene_variant ESAD-UK 11 67062938 67062938 single base substitution G C downstream_gene_variant ESAD-UK 11 67062938 67062938 single base substitution G C intron_variant ESAD-UK 11 67062938 67062938 single base substitution G C upstream_gene_variant ESAD-UK 11 67065624 67065624 single base substitution C T exon_variant ESAD-UK 11 67065624 67065624 single base substitution C T intron_variant ESAD-UK 11 67065624 67065624 single base substitution C T upstream_gene_variant ESAD-UK 11 67065972 67065972 single base substitution C G exon_variant ESAD-UK 11 67065972 67065972 single base substitution C G intron_variant ESAD-UK 11 67065972 67065972 single base substitution C G upstream_gene_variant ESAD-UK 11 67066544 67066544 single base substitution C A exon_variant ESAD-UK 11 67066544 67066544 single base substitution C A synonymous_variant I162I 486C>A ESAD-UK 11 67066544 67066544 single base substitution C A synonymous_variant I249I 747C>A ESAD-UK 11 67066544 67066544 single base substitution C A upstream_gene_variant ESAD-UK 11 67069122 67069122 single base substitution G T downstream_gene_variant ESAD-UK 11 67069122 67069122 single base substitution G T exon_variant ESAD-UK 11 67069122 67069122 single base substitution G T intron_variant ESAD-UK 11 67069122 67069122 single base substitution G T missense_variant Q154H 462G>T ESAD-UK 11 67069122 67069122 single base substitution G T missense_variant Q417H 1251G>T ESAD-UK 11 67069122 67069122 single base substitution G T missense_variant Q504H 1512G>T ESAD-UK 11 67069122 67069122 single base substitution G T splice_region_variant ESAD-UK 11 67069502 67069502 single base substitution C T downstream_gene_variant ESAD-UK 11 67069502 67069502 single base substitution C T intron_variant ESAD-UK 11 67072666 67072666 single base substitution T G downstream_gene_variant ESAD-UK 11 67073767 67073767 single base substitution A G downstream_gene_variant ESAD-UK 11 67074141 67074141 single base substitution C T downstream_gene_variant ESCA-CN 11 67059618 67059618 single base substitution C G downstream_gene_variant ESCA-CN 11 67059618 67059618 single base substitution C G exon_variant ESCA-CN 11 67059618 67059618 single base substitution C G missense_variant T146S 437C>G ESCA-CN 11 67059618 67059618 single base substitution C G missense_variant T233S 698C>G ESCA-CN 11 67067356 67067356 single base substitution C T exon_variant ESCA-CN 11 67067356 67067356 single base substitution C T intron_variant ESCA-CN 11 67067356 67067356 single base substitution C T synonymous_variant T226T 678C>T ESCA-CN 11 67067356 67067356 single base substitution C T synonymous_variant T313T 939C>T ESCA-CN 11 67067356 67067356 single base substitution C T upstream_gene_variant KIRC-US 11 67072383 67072383 single base substitution G A downstream_gene_variant KIRP-US 11 67058950 67058950 single base substitution C A downstream_gene_variant KIRP-US 11 67058950 67058950 single base substitution C A exon_variant KIRP-US 11 67058950 67058950 single base substitution C A missense_variant P119T 355C>A KIRP-US 11 67058950 67058950 single base substitution C A missense_variant P32T 94C>A KIRP-US 11 67058950 67058950 single base substitution C A upstream_gene_variant LAML-KR 11 67052466 67052466 single base substitution G A upstream_gene_variant LAML-KR 11 67063838 67063838 single base substitution A G downstream_gene_variant LAML-KR 11 67063838 67063838 single base substitution A G intron_variant LAML-KR 11 67063838 67063838 single base substitution A G upstream_gene_variant LAML-KR 11 67066613 67066613 single base substitution T G exon_variant LAML-KR 11 67066613 67066613 single base substitution T G intron_variant LAML-KR 11 67066613 67066613 single base substitution T G upstream_gene_variant LICA-CN 11 67057894 67057894 single base substitution G T exon_variant LICA-CN 11 67057894 67057894 single base substitution G T stop_gained E110* 328G>T LICA-CN 11 67057894 67057894 single base substitution G T stop_gained E23* 67G>T LICA-CN 11 67057894 67057894 single base substitution G T upstream_gene_variant LICA-CN 11 67059112 67059112 single base substitution C T downstream_gene_variant LICA-CN 11 67059112 67059112 single base substitution C T exon_variant LICA-CN 11 67059112 67059112 single base substitution C T missense_variant R146C 436C>T LICA-CN 11 67059112 67059112 single base substitution C T missense_variant R59C 175C>T LICA-CN 11 67059112 67059112 single base substitution C T upstream_gene_variant LICA-CN 11 67074842 67074842 single base substitution G T downstream_gene_variant LICA-FR 11 67057618 67057618 single base substitution G A 5_prime_UTR_variant LICA-FR 11 67057618 67057618 single base substitution G A exon_variant LICA-FR 11 67057618 67057618 single base substitution G A missense_variant E54K 160G>A LICA-FR 11 67057618 67057618 single base substitution G A upstream_gene_variant LICA-FR 11 67061266 67061266 single base substitution G T downstream_gene_variant LICA-FR 11 67061266 67061266 single base substitution G T intron_variant LICA-FR 11 67061266 67061266 single base substitution G T upstream_gene_variant LICA-FR 11 67069023 67069038 deletion of <=200bp GGGCATGGAGCGCAAC - downstream_gene_variant LICA-FR 11 67069023 67069038 deletion of <=200bp GGGCATGGAGCGCAAC - exon_variant LICA-FR 11 67069023 67069038 deletion of <=200bp GGGCATGGAGCGCAAC - frameshift_variant LGMERN121 LICA-FR 11 67069023 67069038 deletion of <=200bp GGGCATGGAGCGCAAC - frameshift_variant LGMERN384 LICA-FR 11 67069023 67069038 deletion of <=200bp GGGCATGGAGCGCAAC - frameshift_variant LGMERN471 LICA-FR 11 67069023 67069038 deletion of <=200bp GGGCATGGAGCGCAAC - intron_variant LINC-JP 11 67074455 67074455 single base substitution G T downstream_gene_variant LIRI-JP 11 67051844 67051844 single base substitution G T upstream_gene_variant LIRI-JP 11 67052132 67052132 single base substitution C T upstream_gene_variant LIRI-JP 11 67052207 67052207 single base substitution C T upstream_gene_variant LIRI-JP 11 67053363 67053363 single base substitution C T upstream_gene_variant LIRI-JP 11 67059898 67059898 single base substitution C T downstream_gene_variant LIRI-JP 11 67059898 67059898 single base substitution C T intron_variant LIRI-JP 11 67059980 67059980 single base substitution C A downstream_gene_variant LIRI-JP 11 67059980 67059980 single base substitution C A intron_variant LIRI-JP 11 67060864 67060864 single base substitution T G downstream_gene_variant LIRI-JP 11 67060864 67060864 single base substitution T G intron_variant LIRI-JP 11 67060864 67060864 single base substitution T G upstream_gene_variant LIRI-JP 11 67069467 67069467 single base substitution G T downstream_gene_variant LIRI-JP 11 67069467 67069467 single base substitution G T intron_variant LUSC-KR 11 67059374 67059374 single base substitution G T downstream_gene_variant LUSC-KR 11 67059374 67059374 single base substitution G T intron_variant LUSC-KR 11 67059374 67059374 single base substitution G T upstream_gene_variant LUSC-KR 11 67059431 67059431 single base substitution G T downstream_gene_variant LUSC-KR 11 67059431 67059431 single base substitution G T intron_variant LUSC-KR 11 67059431 67059431 single base substitution G T upstream_gene_variant LUSC-KR 11 67063838 67063838 single base substitution A G downstream_gene_variant LUSC-KR 11 67063838 67063838 single base substitution A G intron_variant LUSC-KR 11 67063838 67063838 single base substitution A G upstream_gene_variant LUSC-KR 11 67066872 67066872 single base substitution A G exon_variant LUSC-KR 11 67066872 67066872 single base substitution A G intron_variant LUSC-KR 11 67066872 67066872 single base substitution A G upstream_gene_variant LUSC-KR 11 67069586 67069586 single base substitution G T downstream_gene_variant LUSC-KR 11 67069586 67069586 single base substitution G T intron_variant LUSC-US 11 67059504 67059504 single base substitution T G downstream_gene_variant LUSC-US 11 67059504 67059504 single base substitution T G exon_variant LUSC-US 11 67059504 67059504 single base substitution T G missense_variant V108G 323T>G LUSC-US 11 67059504 67059504 single base substitution T G missense_variant V195G 584T>G LUSC-US 11 67059504 67059504 single base substitution T G upstream_gene_variant LUSC-US 11 67067552 67067552 single base substitution G T downstream_gene_variant LUSC-US 11 67067552 67067552 single base substitution G T exon_variant LUSC-US 11 67067552 67067552 single base substitution G T intron_variant LUSC-US 11 67067552 67067552 single base substitution G T missense_variant R257L 770G>T LUSC-US 11 67067552 67067552 single base substitution G T missense_variant R344L 1031G>T LUSC-US 11 67067552 67067552 single base substitution G T upstream_gene_variant LUSC-US 11 67074336 67074336 single base substitution C T downstream_gene_variant MALY-DE 11 67057980 67057980 single base substitution C T exon_variant MALY-DE 11 67057980 67057980 single base substitution C T intron_variant MALY-DE 11 67057980 67057980 single base substitution C T upstream_gene_variant MALY-DE 11 67063741 67063741 single base substitution G A downstream_gene_variant MALY-DE 11 67063741 67063741 single base substitution G A intron_variant MALY-DE 11 67063741 67063741 single base substitution G A upstream_gene_variant MALY-DE 11 67065747 67065747 single base substitution A T exon_variant MALY-DE 11 67065747 67065747 single base substitution A T intron_variant MALY-DE 11 67065747 67065747 single base substitution A T upstream_gene_variant MALY-DE 11 67070238 67070238 single base substitution C T downstream_gene_variant MALY-DE 11 67071463 67071463 single base substitution A G downstream_gene_variant MALY-DE 11 67072861 67072861 single base substitution G A downstream_gene_variant MALY-DE 11 67073986 67073986 single base substitution C G downstream_gene_variant MALY-DE 11 67074400 67074400 single base substitution C T downstream_gene_variant MELA-AU 11 67051208 67051208 single base substitution C T upstream_gene_variant MELA-AU 11 67051310 67051310 single base substitution C T upstream_gene_variant MELA-AU 11 67051611 67051611 single base substitution G A upstream_gene_variant MELA-AU 11 67052645 67052645 single base substitution A T upstream_gene_variant MELA-AU 11 67052760 67052760 single base substitution G T upstream_gene_variant MELA-AU 11 67052783 67052783 single base substitution G A upstream_gene_variant MELA-AU 11 67052983 67052983 single base substitution C T upstream_gene_variant MELA-AU 11 67053333 67053334 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 67053895 67053895 single base substitution C T upstream_gene_variant MELA-AU 11 67055119 67055119 single base substitution C A upstream_gene_variant MELA-AU 11 67055224 67055224 single base substitution G A upstream_gene_variant MELA-AU 11 67056393 67056393 single base substitution G A 5_prime_UTR_variant MELA-AU 11 67056393 67056393 single base substitution G A upstream_gene_variant MELA-AU 11 67057795 67057795 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 67057795 67057795 single base substitution C A missense_variant L77M 229C>A MELA-AU 11 67057795 67057795 single base substitution C A splice_region_variant MELA-AU 11 67057795 67057795 single base substitution C A upstream_gene_variant MELA-AU 11 67057795 67057795 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 67057795 67057795 single base substitution C T splice_region_variant MELA-AU 11 67057795 67057795 single base substitution C T upstream_gene_variant MELA-AU 11 67058568 67058568 single base substitution C T downstream_gene_variant MELA-AU 11 67058568 67058568 single base substitution C T exon_variant MELA-AU 11 67058568 67058568 single base substitution C T intron_variant MELA-AU 11 67058568 67058568 single base substitution C T upstream_gene_variant MELA-AU 11 67058745 67058745 single base substitution C T downstream_gene_variant MELA-AU 11 67058745 67058745 single base substitution C T exon_variant MELA-AU 11 67058745 67058745 single base substitution C T intron_variant MELA-AU 11 67058745 67058745 single base substitution C T upstream_gene_variant MELA-AU 11 67059112 67059112 single base substitution C T downstream_gene_variant MELA-AU 11 67059112 67059112 single base substitution C T exon_variant MELA-AU 11 67059112 67059112 single base substitution C T missense_variant R146C 436C>T MELA-AU 11 67059112 67059112 single base substitution C T missense_variant R59C 175C>T MELA-AU 11 67059112 67059112 single base substitution C T upstream_gene_variant MELA-AU 11 67059204 67059204 single base substitution C T downstream_gene_variant MELA-AU 11 67059204 67059204 single base substitution C T exon_variant MELA-AU 11 67059204 67059204 single base substitution C T synonymous_variant I176I 528C>T MELA-AU 11 67059204 67059204 single base substitution C T synonymous_variant I89I 267C>T MELA-AU 11 67059204 67059204 single base substitution C T upstream_gene_variant MELA-AU 11 67059225 67059225 single base substitution C G downstream_gene_variant MELA-AU 11 67059225 67059225 single base substitution C G splice_region_variant MELA-AU 11 67059225 67059225 single base substitution C G upstream_gene_variant MELA-AU 11 67060731 67060731 single base substitution C T downstream_gene_variant MELA-AU 11 67060731 67060731 single base substitution C T intron_variant MELA-AU 11 67060731 67060731 single base substitution C T upstream_gene_variant MELA-AU 11 67061295 67061295 single base substitution C T downstream_gene_variant MELA-AU 11 67061295 67061295 single base substitution C T intron_variant MELA-AU 11 67061295 67061295 single base substitution C T upstream_gene_variant MELA-AU 11 67061547 67061547 single base substitution A G downstream_gene_variant MELA-AU 11 67061547 67061547 single base substitution A G intron_variant MELA-AU 11 67061547 67061547 single base substitution A G upstream_gene_variant MELA-AU 11 67061676 67061676 single base substitution C T downstream_gene_variant MELA-AU 11 67061676 67061676 single base substitution C T intron_variant MELA-AU 11 67061676 67061676 single base substitution C T upstream_gene_variant MELA-AU 11 67062489 67062489 single base substitution T C downstream_gene_variant MELA-AU 11 67062489 67062489 single base substitution T C intron_variant MELA-AU 11 67062489 67062489 single base substitution T C upstream_gene_variant MELA-AU 11 67062943 67062944 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 67062943 67062944 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 67062943 67062944 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 67062968 67062968 single base substitution G A downstream_gene_variant MELA-AU 11 67062968 67062968 single base substitution G A intron_variant MELA-AU 11 67062968 67062968 single base substitution G A upstream_gene_variant MELA-AU 11 67063285 67063285 single base substitution C T downstream_gene_variant MELA-AU 11 67063285 67063285 single base substitution C T intron_variant MELA-AU 11 67063285 67063285 single base substitution C T upstream_gene_variant MELA-AU 11 67063809 67063809 single base substitution A T downstream_gene_variant MELA-AU 11 67063809 67063809 single base substitution A T intron_variant MELA-AU 11 67063809 67063809 single base substitution A T upstream_gene_variant MELA-AU 11 67064347 67064347 single base substitution C T downstream_gene_variant MELA-AU 11 67064347 67064347 single base substitution C T intron_variant MELA-AU 11 67064347 67064347 single base substitution C T upstream_gene_variant MELA-AU 11 67064464 67064464 single base substitution C T downstream_gene_variant MELA-AU 11 67064464 67064464 single base substitution C T intron_variant MELA-AU 11 67064464 67064464 single base substitution C T upstream_gene_variant MELA-AU 11 67065754 67065754 single base substitution C T exon_variant MELA-AU 11 67065754 67065754 single base substitution C T intron_variant MELA-AU 11 67065754 67065754 single base substitution C T upstream_gene_variant MELA-AU 11 67065774 67065774 single base substitution C T exon_variant MELA-AU 11 67065774 67065774 single base substitution C T intron_variant MELA-AU 11 67065774 67065774 single base substitution C T upstream_gene_variant MELA-AU 11 67066004 67066004 single base substitution C T exon_variant MELA-AU 11 67066004 67066004 single base substitution C T intron_variant MELA-AU 11 67066004 67066004 single base substitution C T upstream_gene_variant MELA-AU 11 67066005 67066005 single base substitution C T exon_variant MELA-AU 11 67066005 67066005 single base substitution C T intron_variant MELA-AU 11 67066005 67066005 single base substitution C T upstream_gene_variant MELA-AU 11 67066347 67066347 single base substitution C T exon_variant MELA-AU 11 67066347 67066347 single base substitution C T intron_variant MELA-AU 11 67066347 67066347 single base substitution C T upstream_gene_variant MELA-AU 11 67066981 67066982 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 67066981 67066982 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 67066981 67066982 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 67067468 67067468 single base substitution C T exon_variant MELA-AU 11 67067468 67067468 single base substitution C T intron_variant MELA-AU 11 67067468 67067468 single base substitution C T missense_variant P229L 686C>T MELA-AU 11 67067468 67067468 single base substitution C T missense_variant P316L 947C>T MELA-AU 11 67067468 67067468 single base substitution C T upstream_gene_variant MELA-AU 11 67069275 67069275 single base substitution G A downstream_gene_variant MELA-AU 11 67069275 67069275 single base substitution G A exon_variant MELA-AU 11 67069275 67069275 single base substitution G A intron_variant MELA-AU 11 67069275 67069275 single base substitution G A missense_variant E179K 535G>A MELA-AU 11 67069275 67069275 single base substitution G A missense_variant E442K 1324G>A MELA-AU 11 67069275 67069275 single base substitution G A missense_variant E529K 1585G>A MELA-AU 11 67069642 67069642 single base substitution C T downstream_gene_variant MELA-AU 11 67069642 67069642 single base substitution C T exon_variant MELA-AU 11 67069642 67069642 single base substitution C T intron_variant MELA-AU 11 67069642 67069642 single base substitution C T missense_variant P203S 607C>T MELA-AU 11 67069642 67069642 single base substitution C T missense_variant P466S 1396C>T MELA-AU 11 67069642 67069642 single base substitution C T missense_variant P553S 1657C>T MELA-AU 11 67069825 67069825 single base substitution G A 3_prime_UTR_variant MELA-AU 11 67069825 67069825 single base substitution G A downstream_gene_variant MELA-AU 11 67069825 67069825 single base substitution G A exon_variant MELA-AU 11 67070270 67070270 single base substitution C T downstream_gene_variant MELA-AU 11 67070554 67070554 single base substitution G A downstream_gene_variant MELA-AU 11 67071820 67071820 single base substitution C T downstream_gene_variant MELA-AU 11 67072140 67072140 single base substitution C T downstream_gene_variant MELA-AU 11 67072263 67072263 single base substitution C T downstream_gene_variant MELA-AU 11 67072583 67072583 single base substitution A G downstream_gene_variant MELA-AU 11 67072681 67072681 single base substitution G A downstream_gene_variant MELA-AU 11 67072954 67072954 single base substitution C T downstream_gene_variant MELA-AU 11 67073376 67073376 single base substitution C T downstream_gene_variant MELA-AU 11 67073484 67073484 single base substitution G A downstream_gene_variant MELA-AU 11 67074304 67074304 single base substitution C T downstream_gene_variant ORCA-IN 11 67051339 67051339 single base substitution G A upstream_gene_variant ORCA-IN 11 67068602 67068602 single base substitution C T downstream_gene_variant ORCA-IN 11 67068602 67068602 single base substitution C T exon_variant ORCA-IN 11 67068602 67068602 single base substitution C T intron_variant ORCA-IN 11 67068602 67068602 single base substitution C T synonymous_variant G318G 954C>T ORCA-IN 11 67068602 67068602 single base substitution C T synonymous_variant G405G 1215C>T ORCA-IN 11 67068602 67068602 single base substitution C T synonymous_variant G55G 165C>T ORCA-IN 11 67068602 67068602 single base substitution C T upstream_gene_variant ORCA-IN 11 67069624 67069624 single base substitution C A downstream_gene_variant ORCA-IN 11 67069624 67069624 single base substitution C A exon_variant ORCA-IN 11 67069624 67069624 single base substitution C A intron_variant ORCA-IN 11 67069624 67069624 single base substitution C A missense_variant P197T 589C>A ORCA-IN 11 67069624 67069624 single base substitution C A missense_variant P460T 1378C>A ORCA-IN 11 67069624 67069624 single base substitution C A missense_variant P547T 1639C>A OV-AU 11 67051533 67051533 single base substitution G A upstream_gene_variant OV-AU 11 67052993 67052993 single base substitution G T upstream_gene_variant OV-AU 11 67055248 67055248 single base substitution T G upstream_gene_variant OV-AU 11 67062302 67062302 single base substitution G C downstream_gene_variant OV-AU 11 67062302 67062302 single base substitution G C intron_variant OV-AU 11 67062302 67062302 single base substitution G C upstream_gene_variant OV-AU 11 67063463 67063463 single base substitution T C downstream_gene_variant OV-AU 11 67063463 67063463 single base substitution T C intron_variant OV-AU 11 67063463 67063463 single base substitution T C upstream_gene_variant OV-AU 11 67063861 67063861 single base substitution T A downstream_gene_variant OV-AU 11 67063861 67063861 single base substitution T A intron_variant OV-AU 11 67063861 67063861 single base substitution T A upstream_gene_variant OV-AU 11 67069729 67069729 single base substitution G A downstream_gene_variant OV-AU 11 67069729 67069729 single base substitution G A exon_variant OV-AU 11 67069729 67069729 single base substitution G A missense_variant E232K 694G>A OV-AU 11 67069729 67069729 single base substitution G A missense_variant E495K 1483G>A OV-AU 11 67069729 67069729 single base substitution G A missense_variant E582K 1744G>A OV-AU 11 67070813 67070813 single base substitution C T downstream_gene_variant PACA-AU 11 67055825 67055825 single base substitution T C upstream_gene_variant PACA-AU 11 67057349 67057349 single base substitution C G 5_prime_UTR_variant PACA-AU 11 67057349 67057349 single base substitution C G intron_variant PACA-AU 11 67057349 67057349 single base substitution C G upstream_gene_variant PACA-AU 11 67058649 67058649 single base substitution T A downstream_gene_variant PACA-AU 11 67058649 67058649 single base substitution T A exon_variant PACA-AU 11 67058649 67058649 single base substitution T A intron_variant PACA-AU 11 67058649 67058649 single base substitution T A upstream_gene_variant PACA-AU 11 67063704 67063704 insertion of <=200bp - A downstream_gene_variant PACA-AU 11 67063704 67063704 insertion of <=200bp - A intron_variant PACA-AU 11 67063704 67063704 insertion of <=200bp - A upstream_gene_variant PACA-AU 11 67065709 67065709 deletion of <=200bp T - exon_variant PACA-AU 11 67065709 67065709 deletion of <=200bp T - intron_variant PACA-AU 11 67065709 67065709 deletion of <=200bp T - upstream_gene_variant PACA-AU 11 67072511 67072511 single base substitution G A downstream_gene_variant PACA-AU 11 67072875 67072875 single base substitution G T downstream_gene_variant PACA-AU 11 67074769 67074769 single base substitution G A downstream_gene_variant PACA-CA 11 67059491 67059491 single base substitution C A downstream_gene_variant PACA-CA 11 67059491 67059491 single base substitution C A exon_variant PACA-CA 11 67059491 67059491 single base substitution C A missense_variant H104N 310C>A PACA-CA 11 67059491 67059491 single base substitution C A missense_variant H191N 571C>A PACA-CA 11 67059491 67059491 single base substitution C A upstream_gene_variant PACA-CA 11 67059618 67059618 single base substitution C G downstream_gene_variant PACA-CA 11 67059618 67059618 single base substitution C G exon_variant PACA-CA 11 67059618 67059618 single base substitution C G missense_variant T146S 437C>G PACA-CA 11 67059618 67059618 single base substitution C G missense_variant T233S 698C>G PACA-CA 11 67062462 67062462 deletion of <=200bp T - downstream_gene_variant PACA-CA 11 67062462 67062462 deletion of <=200bp T - intron_variant PACA-CA 11 67062462 67062462 deletion of <=200bp T - upstream_gene_variant PACA-CA 11 67065036 67065036 single base substitution G A intron_variant PACA-CA 11 67065036 67065036 single base substitution G A upstream_gene_variant PACA-CA 11 67065678 67065678 single base substitution G A exon_variant PACA-CA 11 67065678 67065678 single base substitution G A intron_variant PACA-CA 11 67065678 67065678 single base substitution G A upstream_gene_variant PACA-CA 11 67067409 67067409 single base substitution C T intron_variant PACA-CA 11 67067409 67067409 single base substitution C T upstream_gene_variant PACA-CA 11 67070937 67070937 single base substitution G T downstream_gene_variant PACA-CA 11 67071004 67071004 single base substitution C G downstream_gene_variant PACA-CA 11 67073531 67073531 single base substitution C T downstream_gene_variant PAEN-AU 11 67052524 67052524 single base substitution C T upstream_gene_variant PBCA-DE 11 67061694 67061694 single base substitution G A downstream_gene_variant PBCA-DE 11 67061694 67061694 single base substitution G A intron_variant PBCA-DE 11 67061694 67061694 single base substitution G A upstream_gene_variant PBCA-DE 11 67066773 67066773 single base substitution G A exon_variant PBCA-DE 11 67066773 67066773 single base substitution G A intron_variant PBCA-DE 11 67066773 67066773 single base substitution G A upstream_gene_variant PBCA-DE 11 67073388 67073388 single base substitution T A downstream_gene_variant PRAD-CA 11 67063838 67063838 single base substitution A G downstream_gene_variant PRAD-CA 11 67063838 67063838 single base substitution A G intron_variant PRAD-CA 11 67063838 67063838 single base substitution A G upstream_gene_variant PRAD-UK 11 67060544 67060552 deletion of <=200bp TTATTTGGC - downstream_gene_variant PRAD-UK 11 67060544 67060552 deletion of <=200bp TTATTTGGC - intron_variant PRAD-UK 11 67060544 67060552 deletion of <=200bp TTATTTGGC - upstream_gene_variant PRAD-UK 11 67062767 67062767 single base substitution A G downstream_gene_variant PRAD-UK 11 67062767 67062767 single base substitution A G intron_variant PRAD-UK 11 67062767 67062767 single base substitution A G upstream_gene_variant PRAD-UK 11 67069903 67069903 single base substitution A G 3_prime_UTR_variant PRAD-UK 11 67069903 67069903 single base substitution A G downstream_gene_variant PRAD-UK 11 67069903 67069903 single base substitution A G exon_variant PRAD-UK 11 67070632 67070632 single base substitution A G downstream_gene_variant PRAD-UK 11 67072339 67072339 single base substitution A T downstream_gene_variant PRAD-US 11 67052768 67052768 single base substitution G A upstream_gene_variant PRAD-US 11 67074410 67074410 single base substitution G T downstream_gene_variant RECA-EU 11 67060260 67060260 single base substitution C A downstream_gene_variant RECA-EU 11 67060260 67060260 single base substitution C A intron_variant SKCA-BR 11 67052414 67052414 single base substitution T C upstream_gene_variant SKCA-BR 11 67054281 67054281 single base substitution G C upstream_gene_variant SKCA-BR 11 67059507 67059507 single base substitution T G downstream_gene_variant SKCA-BR 11 67059507 67059507 single base substitution T G exon_variant SKCA-BR 11 67059507 67059507 single base substitution T G missense_variant V109G 326T>G SKCA-BR 11 67059507 67059507 single base substitution T G missense_variant V196G 587T>G SKCA-BR 11 67059507 67059507 single base substitution T G upstream_gene_variant SKCA-BR 11 67063809 67063809 insertion of <=200bp - AGTGT downstream_gene_variant SKCA-BR 11 67063809 67063809 insertion of <=200bp - AGTGT intron_variant SKCA-BR 11 67063809 67063809 insertion of <=200bp - AGTGT upstream_gene_variant SKCA-BR 11 67064961 67064961 single base substitution T C intron_variant SKCA-BR 11 67064961 67064961 single base substitution T C upstream_gene_variant SKCA-BR 11 67064996 67064996 insertion of <=200bp - GT intron_variant SKCA-BR 11 67064996 67064996 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 11 67066256 67066256 single base substitution T A exon_variant SKCA-BR 11 67066256 67066256 single base substitution T A intron_variant SKCA-BR 11 67066256 67066256 single base substitution T A upstream_gene_variant SKCA-BR 11 67066278 67066278 single base substitution A C exon_variant SKCA-BR 11 67066278 67066278 single base substitution A C intron_variant SKCA-BR 11 67066278 67066278 single base substitution A C upstream_gene_variant SKCA-BR 11 67067347 67067347 single base substitution C T exon_variant SKCA-BR 11 67067347 67067347 single base substitution C T intron_variant SKCA-BR 11 67067347 67067347 single base substitution C T synonymous_variant S223S 669C>T SKCA-BR 11 67067347 67067347 single base substitution C T synonymous_variant S310S 930C>T SKCA-BR 11 67067347 67067347 single base substitution C T upstream_gene_variant SKCA-BR 11 67067526 67067526 single base substitution C T downstream_gene_variant SKCA-BR 11 67067526 67067526 single base substitution C T exon_variant SKCA-BR 11 67067526 67067526 single base substitution C T intron_variant SKCA-BR 11 67067526 67067526 single base substitution C T synonymous_variant F248F 744C>T SKCA-BR 11 67067526 67067526 single base substitution C T synonymous_variant F335F 1005C>T SKCA-BR 11 67067526 67067526 single base substitution C T upstream_gene_variant SKCA-BR 11 67069121 67069121 single base substitution A T downstream_gene_variant SKCA-BR 11 67069121 67069121 single base substitution A T exon_variant SKCA-BR 11 67069121 67069121 single base substitution A T intron_variant SKCA-BR 11 67069121 67069121 single base substitution A T missense_variant Q154L 461A>T SKCA-BR 11 67069121 67069121 single base substitution A T missense_variant Q417L 1250A>T SKCA-BR 11 67069121 67069121 single base substitution A T missense_variant Q504L 1511A>T SKCA-BR 11 67069121 67069121 single base substitution A T splice_region_variant SKCA-BR 11 67069352 67069352 single base substitution A G downstream_gene_variant SKCA-BR 11 67069352 67069352 single base substitution A G intron_variant SKCA-BR 11 67069358 67069358 single base substitution A G downstream_gene_variant SKCA-BR 11 67069358 67069358 single base substitution A G intron_variant SKCA-BR 11 67070666 67070666 single base substitution C T downstream_gene_variant SKCA-BR 11 67071202 67071202 single base substitution T A downstream_gene_variant SKCA-BR 11 67074768 67074768 single base substitution C T downstream_gene_variant SKCM-US 11 67051805 67051805 single base substitution C T upstream_gene_variant SKCM-US 11 67052417 67052417 single base substitution C T upstream_gene_variant SKCM-US 11 67052452 67052452 single base substitution C T upstream_gene_variant SKCM-US 11 67052645 67052645 single base substitution A T upstream_gene_variant SKCM-US 11 67059550 67059550 single base substitution A T downstream_gene_variant SKCM-US 11 67059550 67059550 single base substitution A T exon_variant SKCM-US 11 67059550 67059550 single base substitution A T synonymous_variant T123T 369A>T SKCM-US 11 67059550 67059550 single base substitution A T synonymous_variant T210T 630A>T SKCM-US 11 67059550 67059550 single base substitution A T upstream_gene_variant SKCM-US 11 67067323 67067323 single base substitution C T exon_variant SKCM-US 11 67067323 67067323 single base substitution C T intron_variant SKCM-US 11 67067323 67067323 single base substitution C T synonymous_variant F215F 645C>T SKCM-US 11 67067323 67067323 single base substitution C T synonymous_variant F302F 906C>T SKCM-US 11 67067323 67067323 single base substitution C T upstream_gene_variant SKCM-US 11 67069777 67069777 single base substitution C T downstream_gene_variant SKCM-US 11 67069777 67069777 single base substitution C T exon_variant SKCM-US 11 67069777 67069777 single base substitution C T synonymous_variant L248L 742C>T SKCM-US 11 67069777 67069777 single base substitution C T synonymous_variant L511L 1531C>T SKCM-US 11 67069777 67069777 single base substitution C T synonymous_variant L598L 1792C>T SKCM-US 11 67072263 67072263 single base substitution C T downstream_gene_variant STAD-US 11 67051203 67051203 single base substitution T C upstream_gene_variant STAD-US 11 67051736 67051736 single base substitution C T upstream_gene_variant STAD-US 11 67052656 67052656 single base substitution C T upstream_gene_variant STAD-US 11 67066574 67066575 deletion of <=200bp TG - exon_variant STAD-US 11 67066574 67066575 deletion of <=200bp TG - frameshift_variant TV172 STAD-US 11 67066574 67066575 deletion of <=200bp TG - frameshift_variant TV259 STAD-US 11 67066574 67066575 deletion of <=200bp TG - upstream_gene_variant STAD-US 11 67068551 67068551 single base substitution C T downstream_gene_variant STAD-US 11 67068551 67068551 single base substitution C T exon_variant STAD-US 11 67068551 67068551 single base substitution C T intron_variant STAD-US 11 67068551 67068551 single base substitution C T synonymous_variant N301N 903C>T STAD-US 11 67068551 67068551 single base substitution C T synonymous_variant N388N 1164C>T STAD-US 11 67068551 67068551 single base substitution C T synonymous_variant N38N 114C>T STAD-US 11 67068551 67068551 single base substitution C T upstream_gene_variant STAD-US 11 67068991 67068991 single base substitution G A downstream_gene_variant STAD-US 11 67068991 67068991 single base substitution G A exon_variant STAD-US 11 67068991 67068991 single base substitution G A intron_variant STAD-US 11 67068991 67068991 single base substitution G A missense_variant V111M 331G>A STAD-US 11 67068991 67068991 single base substitution G A missense_variant V374M 1120G>A STAD-US 11 67068991 67068991 single base substitution G A missense_variant V461M 1381G>A STAD-US 11 67069008 67069008 single base substitution C T downstream_gene_variant STAD-US 11 67069008 67069008 single base substitution C T exon_variant STAD-US 11 67069008 67069008 single base substitution C T intron_variant STAD-US 11 67069008 67069008 single base substitution C T synonymous_variant N116N 348C>T STAD-US 11 67069008 67069008 single base substitution C T synonymous_variant N379N 1137C>T STAD-US 11 67069008 67069008 single base substitution C T synonymous_variant N466N 1398C>T STAD-US 11 67069033 67069033 single base substitution C T downstream_gene_variant STAD-US 11 67069033 67069033 single base substitution C T exon_variant STAD-US 11 67069033 67069033 single base substitution C T intron_variant STAD-US 11 67069033 67069033 single base substitution C T missense_variant R125C 373C>T STAD-US 11 67069033 67069033 single base substitution C T missense_variant R388C 1162C>T STAD-US 11 67069033 67069033 single base substitution C T missense_variant R475C 1423C>T THCA-SA 11 67052434 67052434 insertion of <=200bp - G upstream_gene_variant THCA-US 11 67069034 67069034 single base substitution G A downstream_gene_variant THCA-US 11 67069034 67069034 single base substitution G A exon_variant THCA-US 11 67069034 67069034 single base substitution G A intron_variant THCA-US 11 67069034 67069034 single base substitution G A missense_variant R125H 374G>A THCA-US 11 67069034 67069034 single base substitution G A missense_variant R388H 1163G>A THCA-US 11 67069034 67069034 single base substitution G A missense_variant R475H 1424G>A UCEC-US 11 67051372 67051372 single base substitution C T upstream_gene_variant UCEC-US 11 67052657 67052657 single base substitution G A upstream_gene_variant UCEC-US 11 67052853 67052853 single base substitution C T upstream_gene_variant UCEC-US 11 67057574 67057574 single base substitution G A 5_prime_UTR_variant UCEC-US 11 67057574 67057574 single base substitution G A exon_variant UCEC-US 11 67057574 67057574 single base substitution G A missense_variant R39H 116G>A UCEC-US 11 67057574 67057574 single base substitution G A upstream_gene_variant UCEC-US 11 67057825 67057825 single base substitution G A 5_prime_UTR_variant UCEC-US 11 67057825 67057825 single base substitution G A exon_variant UCEC-US 11 67057825 67057825 single base substitution G A missense_variant E87K 259G>A UCEC-US 11 67057825 67057825 single base substitution G A upstream_gene_variant UCEC-US 11 67059649 67059649 single base substitution G A downstream_gene_variant UCEC-US 11 67059649 67059649 single base substitution G A splice_region_variant UCEC-US 11 67067470 67067470 single base substitution G A exon_variant UCEC-US 11 67067470 67067470 single base substitution G A intron_variant UCEC-US 11 67067470 67067470 single base substitution G A missense_variant V230M 688G>A UCEC-US 11 67067470 67067470 single base substitution G A missense_variant V317M 949G>A UCEC-US 11 67067470 67067470 single base substitution G A upstream_gene_variant UCEC-US 11 67068601 67068601 single base substitution G A downstream_gene_variant UCEC-US 11 67068601 67068601 single base substitution G A exon_variant UCEC-US 11 67068601 67068601 single base substitution G A intron_variant UCEC-US 11 67068601 67068601 single base substitution G A missense_variant G318D 953G>A UCEC-US 11 67068601 67068601 single base substitution G A missense_variant G405D 1214G>A UCEC-US 11 67068601 67068601 single base substitution G A missense_variant G55D 164G>A UCEC-US 11 67068601 67068601 single base substitution G A upstream_gene_variant UCEC-US 11 67068773 67068773 single base substitution C T downstream_gene_variant UCEC-US 11 67068773 67068773 single base substitution C T exon_variant UCEC-US 11 67068773 67068773 single base substitution C T intron_variant UCEC-US 11 67068773 67068773 single base substitution C T missense_variant L331F 991C>T UCEC-US 11 67068773 67068773 single base substitution C T missense_variant L418F 1252C>T UCEC-US 11 67068773 67068773 single base substitution C T missense_variant L68F 202C>T UCEC-US 11 67068773 67068773 single base substitution C T upstream_gene_variant UCEC-US 11 67069016 67069016 single base substitution G A downstream_gene_variant UCEC-US 11 67069016 67069016 single base substitution G A exon_variant UCEC-US 11 67069016 67069016 single base substitution G A intron_variant UCEC-US 11 67069016 67069016 single base substitution G A missense_variant S119N 356G>A UCEC-US 11 67069016 67069016 single base substitution G A missense_variant S382N 1145G>A UCEC-US 11 67069016 67069016 single base substitution G A missense_variant S469N 1406G>A UCEC-US 11 67072333 67072333 single base substitution C T downstream_gene_variant UCEC-US 11 67074413 67074413 single base substitution C T downstream_gene_variant UCEC-US 11 67074886 67074886 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2492721 COSM5721743 c.1397C>T p.P466L Substitution - Missense 11:67302172-67302172 + Pat_32_A COSM5839362 c.463C>T p.R155* Substitution - Nonsense 11:67291668-67291668 + CA3 COSM1166215 c.1021C>A p.L341M Substitution - Missense 11:67300071-67300071 + MO_1013 COSM5558149 c.414G>C p.K138N Substitution - Missense 11:67291619-67291619 + 587224 COSM1182853 c.407C>T p.A136V Substitution - Missense 11:67292117-67292117 + ESCC-209T COSM3935600 c.437C>G p.T146S Substitution - Missense 11:67292147-67292147 + T20 COSM5619038 c.579G>T p.R193R Substitution - coding silent 11:67292028-67292028 + CHC326T COSM5347682 c.1414_1429del16 p.G472fs*29 Deletion - Frameshift 11:67301553-67301568 + ACC-3 COSM2041526 c.1553C>G p.A518G Substitution - Missense 11:67301772-67301772 + T1154 COSM2041511 c.744C>T p.F248F Substitution - coding silent 11:67300055-67300055 + 2492722 COSM5721742 c.1658C>T p.P553L Substitution - Missense 11:67302172-67302172 + 6115224 COSM5561047 c.1278C>T p.N426N Substitution - coding silent 11:67301758-67301758 + TCGA-CG-5728-01 COSM4035937 c.1162C>T p.R388C Substitution - Missense 11:67301562-67301562 + T2944 COSM4661774 c.1664G>T p.R555M Substitution - Missense 11:67302178-67302178 + YUFARCI COSM1704281 c.854C>T p.S285F Substitution - Missense 11:67299585-67299585 + 19 COSM5747281 c.1135C>T p.P379S Substitution - Missense 11:67301051-67301051 + T20 COSM5619039 c.318G>T p.R106R Substitution - coding silent 11:67292028-67292028 + TCGA-AP-A0LM-01 COSM931034 c.468G>A p.E156E Substitution - coding silent 11:67292178-67292178 + TCGA-56-5898-01 COSM1146768 c.584T>G p.V195G Substitution - Missense 11:67292033-67292033 + TCGA-BR-4362-01 COSM4035932 c.1164C>T p.N388N Substitution - coding silent 11:67301080-67301080 + 26T COSM3710240 c.954C>T p.G318G Substitution - coding silent 11:67301131-67301131 + T3262 COSM4661776 c.1768G>C p.E590Q Substitution - Missense 11:67302282-67302282 + AOCS-055-1-7 COSM3980607 c.1744G>A p.E582K Substitution - Missense 11:67302258-67302258 + 587284 COSM69645 c.904G>A p.A302T Substitution - Missense 11:67301081-67301081 + TCGA-GC-A3YS-01 COSM3791859 c.1229T>C p.I410T Substitution - Missense 11:67301145-67301145 + RKO COSM2041481 c.187C>T p.R63W Substitution - Missense 11:67291653-67291653 + TCGA-DA-A1I5-06 COSM3452258 c.630A>T p.T210T Substitution - coding silent 11:67292079-67292079 + PTC-10C COSM4146188 c.1506G>A p.A502A Substitution - coding silent 11:67301645-67301645 + CSCC-56-T COSM4457492 c.786C>T p.P262P Substitution - coding silent 11:67300097-67300097 + CHEWS003 COSM2041492 c.624C>T p.P208P Substitution - coding silent 11:67292073-67292073 + LUAD-YINHD COSM348524 c.993C>T p.L331L Substitution - coding silent 11:67301304-67301304 + pfg034T COSM4756783 c.451C>G p.R151G Substitution - Missense 11:67292161-67292161 + CSCC-11-T COSM4528124 c.1512G>A p.Q504Q Substitution - coding silent 11:67301651-67301651 + TCGA-GC-A3RD-01 COSM3791857 c.1110G>A p.P370P Substitution - coding silent 11:67301026-67301026 + T37 COSM5341701 c.879C>T p.I293I Substitution - coding silent 11:67301056-67301056 + TCGA-AP-A0LM-01 COSM1585952 c.259G>A p.E87K Substitution - Missense 11:67290354-67290354 + 587342 COSM1182855 c.1074-1G>T p.? Unknown 11:67300989-67300989 + T3094 COSM4661765 c.38G>T p.R13M Substitution - Missense 11:67290394-67290394 + OSCC-GB_01110111 COSM4884629 c.1378C>A p.P460T Substitution - Missense 11:67302153-67302153 + TCGA-A5-A0VP-01 COSM1585950 c.949G>A p.V317M Substitution - Missense 11:67299999-67299999 + TCGA-CG-4306-01 COSM4035935 c.1120G>A p.V374M Substitution - Missense 11:67301520-67301520 + TCGA-G4-6320-01 COSM3687571 c.1101G>A p.P367P Substitution - coding silent 11:67301501-67301501 + ACC-3 COSM2041527 c.1292C>G p.A431G Substitution - Missense 11:67301772-67301772 + PTC-14C COSM4146186 c.913A>C p.M305L Substitution - Missense 11:67299859-67299859 + TCGA-D3-A5GO-06 COSM3452262 c.1792C>T p.L598L Substitution - coding silent 11:67302306-67302306 + MMG1 COSM2041487 c.248G>A p.R83Q Substitution - Missense 11:67291714-67291714 + TCGA-FU-A2QG-01 COSM4849135 c.1660C>T p.P554S Substitution - Missense 11:67302174-67302174 + TCGA-CM-4751-01 COSM5157096 c.565G>C p.V189L Substitution - Missense 11:67299557-67299557 + B80-5-Tumor COSM3931416 c.1073+5G>T p.? Unknown 11:67300128-67300128 + TCGA-18-3410-01 COSM690375 c.770G>T p.R257L Substitution - Missense 11:67300081-67300081 + CoCM-1 COSM2041527 c.1292C>G p.A431G Substitution - Missense 11:67301772-67301772 + T3262 COSM4661777 c.1507G>C p.E503Q Substitution - Missense 11:67302282-67302282 + CHC326T COSM4951298 c.1413_1428del16 p.G472fs*29 Deletion - Frameshift 11:67301552-67301567 + T2420 COSM4035937 c.1162C>T p.R388C Substitution - Missense 11:67301562-67301562 + OSCC-GB_00260111 COSM3710239 c.1215C>T p.G405G Substitution - coding silent 11:67301131-67301131 + CSCC-27-T COSM4489410 c.346C>T p.R116C Substitution - Missense 11:67290441-67290441 + TCGA-G4-6320-01 COSM3687570 c.1362G>A p.P454P Substitution - coding silent 11:67301501-67301501 + UM-SCC-2 COSM4599582 c.1459G>C p.E487Q Substitution - Missense 11:67302234-67302234 + YUFARCI COSM1704282 c.593C>T p.S198F Substitution - Missense 11:67299585-67299585 + LS174T COSM2041501 c.495G>T p.W165C Substitution - Missense 11:67299082-67299082 + CA3 COSM1166216 c.760C>A p.L254M Substitution - Missense 11:67300071-67300071 + 587234 COSM1182858 c.1030G>A p.D344N Substitution - Missense 11:67301341-67301341 + MO_1013 COSM5558150 c.153G>C p.K51N Substitution - Missense 11:67291619-67291619 + SNU-C4 COSM4652038 c.317C>T p.A106V Substitution - Missense 11:67290412-67290412 + T368 COSM4661770 c.1008delC p.N338fs*28 Deletion - Frameshift 11:67300058-67300058 + LC_C4 COSM1188318 c.1207G>A p.A403T Substitution - Missense 11:67301607-67301607 + ZZUFHECRKL-G051T COSM5202223 c.678C>T p.T226T Substitution - coding silent 11:67299885-67299885 + 587286 COSM1182851 c.572G>A p.R191H Substitution - Missense 11:67299564-67299564 + RMS106_ COSM4986446 c.529G>A p.E177K Substitution - Missense 11:67299116-67299116 + CAKI-1 COSM1676222 c.65C>T p.P22L Substitution - Missense 11:67290421-67290421 + KM12 COSM1676224 c.537G>T p.K179N Substitution - Missense 11:67299124-67299124 + TCGA-59-2363-01 COSM69645 c.904G>A p.A302T Substitution - Missense 11:67301081-67301081 + CSCC-11-T COSM4528125 c.1251G>A p.Q417Q Substitution - coding silent 11:67301651-67301651 + B101-Tumor COSM1746503 c.1346C>T p.S449L Substitution - Missense 11:67301396-67301396 + CSCC-49-T COSM4470451 c.1661C>T p.P554L Substitution - Missense 11:67302175-67302175 + TCGA-AP-A059-01 COSM931038 c.1145G>A p.S382N Substitution - Missense 11:67301545-67301545 + TCGA-BH-A18V-06 COSM3810201 c.437G>A p.R146H Substitution - Missense 11:67291642-67291642 + TCGA-56-5898-01 COSM690376 c.323T>G p.V108G Substitution - Missense 11:67292033-67292033 + ESO-R61 COSM1245013 c.1006A>G p.T336A Substitution - Missense 11:67301317-67301317 + TCGA-Q1-A6DT-01 COSM4850706 c.534G>C p.K178N Substitution - Missense 11:67291739-67291739 + Pat_14_A COSM5839365 c.679G>A p.G227R Substitution - Missense 11:67299886-67299886 + TCGA-BR-8361-01 COSM2041522 c.1398C>T p.N466N Substitution - coding silent 11:67301537-67301537 + TCGA-Q1-A6DT-01 COSM4850707 c.273G>C p.K91N Substitution - Missense 11:67291739-67291739 + T7 COSM5619039 c.318G>T p.R106R Substitution - coding silent 11:67292028-67292028 + TCGA-AC-A23H-01 COSM3810204 c.502G>C p.E168Q Substitution - Missense 11:67299089-67299089 + 19 COSM5747279 c.927T>A p.H309Q Substitution - Missense 11:67299873-67299873 + BK0027 COSM4186633 c.712A>T p.N238Y Substitution - Missense 11:67300023-67300023 + SNU-C2B COSM2041496 c.690C>T p.I230I Substitution - coding silent 11:67292139-67292139 + 26T COSM3710239 c.1215C>T p.G405G Substitution - coding silent 11:67301131-67301131 + UM-SCC-2 COSM4599581 c.1720G>C p.E574Q Substitution - Missense 11:67302234-67302234 + LS180 COSM2041501 c.495G>T p.W165C Substitution - Missense 11:67299082-67299082 + T2932 COSM4661767 c.497G>T p.R166L Substitution - Missense 11:67299084-67299084 + HCC076T COSM5822071 c.67G>T p.E23* Substitution - Nonsense 11:67290423-67290423 + ESO-R61 COSM1245012 c.1267A>G p.T423A Substitution - Missense 11:67301317-67301317 + TCGA-AR-A1AP-01 COSM1475805 c.784G>A p.G262S Substitution - Missense 11:67299110-67299110 + CHEWS003 COSM2041493 c.363C>T p.P121P Substitution - coding silent 11:67292073-67292073 + 526LT COSM2041526 c.1553C>G p.A518G Substitution - Missense 11:67301772-67301772 + TCGA-AP-A0LM-01 COSM1585951 c.729G>A p.E243E Substitution - coding silent 11:67292178-67292178 + HCT15 COSM4622267 c.1346C>T p.A449V Substitution - Missense 11:67302121-67302121 + TCGA-A5-A0VP-01 COSM931035 c.688G>A p.V230M Substitution - Missense 11:67299999-67299999 + HCC098T COSM172587 c.175C>T p.R59C Substitution - Missense 11:67291641-67291641 + Pat_32_A COSM5839363 c.202C>T p.R68* Substitution - Nonsense 11:67291668-67291668 + RMS106_ COSM4986445 c.790G>A p.E264K Substitution - Missense 11:67299116-67299116 + 2492721 COSM5721742 c.1658C>T p.P553L Substitution - Missense 11:67302172-67302172 + 2492720 COSM5721743 c.1397C>T p.P466L Substitution - Missense 11:67302172-67302172 + TCGA-A6-5665-01 COSM1356376 c.1385G>A p.G462D Substitution - Missense 11:67302160-67302160 + 587342 COSM1182856 c.813-1G>T p.? Unknown 11:67300989-67300989 + 2492723 COSM5721743 c.1397C>T p.P466L Substitution - Missense 11:67302172-67302172 + B101 COSM1746503 c.1346C>T p.S449L Substitution - Missense 11:67301396-67301396 + TCGA-GC-A3RD-01 COSM3791858 c.849G>A p.P283P Substitution - coding silent 11:67301026-67301026 + CSCC-49-T COSM4470452 c.1400C>T p.P467L Substitution - Missense 11:67302175-67302175 + HCT8 COSM4622266 c.1607C>T p.A536V Substitution - Missense 11:67302121-67302121 + KM12 COSM1676224 c.537G>T p.K179N Substitution - Missense 11:67299124-67299124 + YUMER COSM1704280 c.415C>T p.L139F Substitution - Missense 11:67292125-67292125 + SW1222 COSM4654674 c.1471C>T p.R491W Substitution - Missense 11:67302246-67302246 + HCC076T COSM5822070 c.328G>T p.E110* Substitution - Nonsense 11:67290423-67290423 + B80-5-Tumor COSM3931417 c.812+5G>T p.? Unknown 11:67300128-67300128 + SJTALL003 COSM305928 c.164G>A p.S55N Substitution - Missense 11:67291630-67291630 + TCGA-18-3410-01 COSM1146769 c.1031G>T p.R344L Substitution - Missense 11:67300081-67300081 + TCGA-EE-A2MR-06 COSM3452260 c.906C>T p.F302F Substitution - coding silent 11:67299852-67299852 + T3225 COSM4661772 c.1309G>A p.V437M Substitution - Missense 11:67301359-67301359 + TCGA-D1-A0ZS-01 COSM931036 c.953G>A p.G318D Substitution - Missense 11:67301130-67301130 + TCGA-B0-5098-01 COSM1492689 c.838G>A p.E280K Substitution - Missense 11:67301015-67301015 + BD124T COSM5492832 c.1105G>A p.E369K Substitution - Missense 11:67301505-67301505 + TCGA-B1-A657-01 COSM4908179 c.94C>A p.P32T Substitution - Missense 11:67291479-67291479 + TCGA-AP-A0LM-01 COSM1585953 c.116G>A p.R39H Substitution - Missense 11:67290103-67290103 + TCGA-DA-A1I5-06 COSM3452259 c.369A>T p.T123T Substitution - coding silent 11:67292079-67292079 + PTC-14C COSM4146187 c.652A>C p.M218L Substitution - Missense 11:67299859-67299859 + TCGA-BR-4362-01 COSM4035933 c.903C>T p.N301N Substitution - coding silent 11:67301080-67301080 + LUAD-S01357 COSM386443 c.1178G>A p.R393Q Substitution - Missense 11:67301578-67301578 + TCGA-AC-A23H-01 COSM3810203 c.763G>C p.E255Q Substitution - Missense 11:67299089-67299089 + SJTALL003 COSM4776531 c.425G>A p.S142N Substitution - Missense 11:67291630-67291630 + 2530678 COSM5885333 c.1440G>A p.R480R Substitution - coding silent 11:67301579-67301579 + C135 COSM4617192 c.1201C>T p.R401C Substitution - Missense 11:67301117-67301117 + TCGA-DS-A1OC-01 COSM1293429 c.466G>A p.E156K Substitution - Missense 11:67292176-67292176 + TCGA-CK-6746-01 COSM1356374 c.1363C>T p.Q455* Substitution - Nonsense 11:67302138-67302138 + T3094 COSM4661764 c.299G>T p.R100M Substitution - Missense 11:67290394-67290394 + B101-Tumor COSM1746504 c.1085C>T p.S362L Substitution - Missense 11:67301396-67301396 + T1 COSM5618688 c.141C>T p.A47A Substitution - coding silent 11:67290128-67290128 + HCT8 COSM4622267 c.1346C>T p.A449V Substitution - Missense 11:67302121-67302121 + MMG1 COSM2041486 c.509G>A p.R170Q Substitution - Missense 11:67291714-67291714 + CSCC-56-T COSM4457491 c.1047C>T p.P349P Substitution - coding silent 11:67300097-67300097 + 2275_T COSM3953704 c.481C>T p.L161L Substitution - coding silent 11:67291686-67291686 + PTC-14C COSM4146185 c.578G>T p.R193L Substitution - Missense 11:67299570-67299570 + KM12 COSM1676223 c.798G>T p.K266N Substitution - Missense 11:67299124-67299124 + T2932 COSM4661766 c.758G>T p.R253L Substitution - Missense 11:67299084-67299084 + TCGA-DK-A2I1-01 COSM1298492 c.270C>T p.F90F Substitution - coding silent 11:67291736-67291736 + PTC-10C COSM4146189 c.1245G>A p.A415A Substitution - coding silent 11:67301645-67301645 + KM12 COSM1676223 c.798G>T p.K266N Substitution - Missense 11:67299124-67299124 + T7 COSM5619038 c.579G>T p.R193R Substitution - coding silent 11:67292028-67292028 + LS174T COSM2041500 c.756G>T p.W252C Substitution - Missense 11:67299082-67299082 + SW1222 COSM4654673 c.1732C>T p.R578W Substitution - Missense 11:67302246-67302246 + B101 COSM1746504 c.1085C>T p.S362L Substitution - Missense 11:67301396-67301396 + TCGA-AA-3715-01 COSM268663 c.790G>A p.E264K Substitution - Missense 11:67300101-67300101 + PTC-14C COSM4146184 c.839G>T p.R280L Substitution - Missense 11:67299570-67299570 + TCGA-D3-A5GO-06 COSM3452263 c.1531C>T p.L511L Substitution - coding silent 11:67302306-67302306 + T2944 COSM4661775 c.1403G>T p.R468M Substitution - Missense 11:67302178-67302178 + ZZUFHECRKL-G051T COSM5202222 c.939C>T p.T313T Substitution - coding silent 11:67299885-67299885 + 2492722 COSM5721743 c.1397C>T p.P466L Substitution - Missense 11:67302172-67302172 + BD72T COSM5512822 c.1042C>T p.R348C Substitution - Missense 11:67300092-67300092 + YUMER COSM1704279 c.676C>T p.L226F Substitution - Missense 11:67292125-67292125 + RKO COSM2041480 c.448C>T p.R150W Substitution - Missense 11:67291653-67291653 + 6115224 COSM5561046 c.1539C>T p.N513N Substitution - coding silent 11:67301758-67301758 + TCGA-B1-A657-01 COSM4908178 c.355C>A p.P119T Substitution - Missense 11:67291479-67291479 + OSCC-GB_01110111 COSM4884628 c.1639C>A p.P547T Substitution - Missense 11:67302153-67302153 + TCGA-CG-4306-01 COSM4035934 c.1381G>A p.V461M Substitution - Missense 11:67301520-67301520 + SNU-C2B COSM2041497 c.429C>T p.I143I Substitution - coding silent 11:67292139-67292139 + TCGA-DK-A2I1-01 COSM1298491 c.531C>T p.F177F Substitution - coding silent 11:67291736-67291736 + CAKI-1 COSM1676221 c.326C>T p.P109L Substitution - Missense 11:67290421-67290421 + TCGA-EE-A2MR-06 COSM3452261 c.645C>T p.F215F Substitution - coding silent 11:67299852-67299852 + 587224 COSM1182852 c.668C>T p.A223V Substitution - Missense 11:67292117-67292117 + T3225 COSM4661773 c.1048G>A p.V350M Substitution - Missense 11:67301359-67301359 + TCGA-BG-A0VZ-01 COSM931037 c.991C>T p.L331F Substitution - Missense 11:67301302-67301302 + TCGA-DJ-A3UP-01 COSM3368526 c.1163G>A p.R388H Substitution - Missense 11:67301563-67301563 + 19 COSM5747280 c.666T>A p.H222Q Substitution - Missense 11:67299873-67299873 + SNU-C4 COSM4652039 c.56C>T p.A19V Substitution - Missense 11:67290412-67290412 + pfg034T COSM4756782 c.712C>G p.R238G Substitution - Missense 11:67292161-67292161 + TCGA-AZ-4615-01 COSM3687572 c.1438C>T p.R480W Substitution - Missense 11:67301577-67301577 + HCT15 COSM4622266 c.1607C>T p.A536V Substitution - Missense 11:67302121-67302121 + T37 COSM5341700 c.1140C>T p.I380I Substitution - coding silent 11:67301056-67301056 + Pat_74_A COSM5839367 c.770G>A p.R257Q Substitution - Missense 11:67300081-67300081 + BD72T COSM5512823 c.781C>T p.R261C Substitution - Missense 11:67300092-67300092 + ESCC-209T COSM3935599 c.698C>G p.T233S Substitution - Missense 11:67292147-67292147 + 19 COSM5747282 c.874C>T p.P292S Substitution - Missense 11:67301051-67301051 + TCGA-BR-8361-01 COSM2041523 c.1137C>T p.N379N Substitution - coding silent 11:67301537-67301537 + TCGA-GC-A3YS-01 COSM3791860 c.968T>C p.I323T Substitution - Missense 11:67301145-67301145 + TCGA-BH-A18V-06 COSM3810202 c.176G>A p.R59H Substitution - Missense 11:67291642-67291642 + 526LT COSM2041527 c.1292C>G p.A431G Substitution - Missense 11:67301772-67301772 + CSCC-44-T COSM4459188 c.1115C>T p.S372F Substitution - Missense 11:67301031-67301031 + 587286 COSM1182850 c.833G>A p.R278H Substitution - Missense 11:67299564-67299564 + 2275_T COSM3953705 c.220C>T p.L74L Substitution - coding silent 11:67291686-67291686 + HCC098T COSM5074561 c.436C>T p.R146C Substitution - Missense 11:67291641-67291641 + CHC326T COSM4951299 c.1152_1167del16 p.G385fs*29 Deletion - Frameshift 11:67301552-67301567 + TCGA-AO-A128-01 COSM3810200 c.173T>C p.V58A Substitution - Missense 11:67290160-67290160 + 2492720 COSM5721742 c.1658C>T p.P553L Substitution - Missense 11:67302172-67302172 + 2530678 COSM5885334 c.1179G>A p.R393R Substitution - coding silent 11:67301579-67301579 + Pat_14_A COSM5839364 c.940G>A p.G314R Substitution - Missense 11:67299886-67299886 + BD124T COSM5492831 c.1366G>A p.E456K Substitution - Missense 11:67301505-67301505 + CSCC-41-T COSM4525752 c.1089G>T p.G363G Substitution - coding silent 11:67301489-67301489 + HCT8 COSM4633398 c.1573A>G p.T525A Substitution - Missense 11:67301792-67301792 + 587284 COSM1182854 c.1165G>A p.A389T Substitution - Missense 11:67301081-67301081 + C135 COSM4617193 c.940C>T p.R314C Substitution - Missense 11:67301117-67301117 + AOCS-055-1-7 COSM3980608 c.1483G>A p.E495K Substitution - Missense 11:67302258-67302258 + T2197 COSM4661768 c.920A>G p.Q307R Substitution - Missense 11:67299866-67299866 + T2197 COSM4661769 c.659A>G p.Q220R Substitution - Missense 11:67299866-67299866 + CSCC-27-T COSM4489411 c.85C>T p.R29C Substitution - Missense 11:67290441-67290441 + HCT8 COSM4633399 c.1312A>G p.T438A Substitution - Missense 11:67301792-67301792 + SJTALL003 COSM305928 c.164G>A p.S55N Substitution - Missense 11:67291630-67291630 + TCGA-DJ-A3UP-01 COSM3368525 c.1424G>A p.R475H Substitution - Missense 11:67301563-67301563 + TCGA-CG-5728-01 COSM4035936 c.1423C>T p.R475C Substitution - Missense 11:67301562-67301562 + 587234 COSM1182857 c.1291G>A p.D431N Substitution - Missense 11:67301341-67301341 + CSCC-41-T COSM4525751 c.1350G>T p.G450G Substitution - coding silent 11:67301489-67301489 + DLD1 COSM4622266 c.1607C>T p.A536V Substitution - Missense 11:67302121-67302121 + TCGA-AP-A059-01 COSM1585949 c.1406G>A p.S469N Substitution - Missense 11:67301545-67301545 + CHC326T COSM5347683 c.1153_1168del16 p.G385fs*29 Deletion - Frameshift 11:67301553-67301568 + TCGA-AZ-4615-01 COSM3687573 c.1177C>T p.R393W Substitution - Missense 11:67301577-67301577 + MOLT-4 COSM1676226 c.1343G>A p.R448Q Substitution - Missense 11:67301823-67301823 + 2492723 COSM5721742 c.1658C>T p.P553L Substitution - Missense 11:67302172-67302172 + MOLT-4 COSM1676225 c.1604G>A p.R535Q Substitution - Missense 11:67301823-67301823 + LS180 COSM2041500 c.756G>T p.W252C Substitution - Missense 11:67299082-67299082 + TCGA-BH-A0BT-01 COSM429695 c.258C>T p.P86P Substitution - coding silent 11:67290353-67290353 + TCGA-FU-A2QG-01 COSM4849136 c.1399C>T p.P467S Substitution - Missense 11:67302174-67302174 + BK0027 COSM4186632 c.973A>T p.N325Y Substitution - Missense 11:67300023-67300023 + LC_C4 COSM1188317 c.1468G>A p.A490T Substitution - Missense 11:67301607-67301607 + Pat_74_A COSM5839366 c.1031G>A p.R344Q Substitution - Missense 11:67300081-67300081 + CSCC-44-T COSM4459189 c.854C>T p.S285F Substitution - Missense 11:67301031-67301031 + TCGA-DS-A1OC-01 COSM1293428 c.727G>A p.E243K Substitution - Missense 11:67292176-67292176 + TCGA-A6-5665-01 COSM1356375 c.1646G>A p.G549D Substitution - Missense 11:67302160-67302160 + T368 COSM4661771 c.747delC p.N251fs*28 Deletion - Frameshift 11:67300058-67300058 + TCGA-DM-A1HB-01 COSM5168409 c.577C>T p.R193C Substitution - Missense 11:67299569-67299569 + OSCC-GB_00260111 COSM3710240 c.954C>T p.G318G Substitution - coding silent 11:67301131-67301131 + TCGA-B0-5098-01 COSM1492688 c.1099G>A p.E367K Substitution - Missense 11:67301015-67301015 + T2420 COSM4035936 c.1423C>T p.R475C Substitution - Missense 11:67301562-67301562 + CoCM-1 COSM2041526 c.1553C>G p.A518G Substitution - Missense 11:67301772-67301772 + T1154 COSM2041510 c.1005C>T p.F335F Substitution - coding silent 11:67300055-67300055 + TCGA-AR-A1AP-01 COSM429696 c.523G>A p.G175S Substitution - Missense 11:67299110-67299110 + DLD1 COSM4622267 c.1346C>T p.A449V Substitution - Missense 11:67302121-67302121 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.438663;Hs.438673 11q13.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.T423A c.1267A>G 11 67068788 ESCA A T Synonymous p.T210T c.630A>T 11 67059550 CM C T IntronicSNV . c.351+63C>T 11 67057980 DLBCL C T Missense p.L115F c.343C>T 11 67057909 LGG C T Missense p.L418F c.1252C>T 11 67068773 UCEC C T Missense p.P404S c.1210C>T 11 67068597 CM C T Missense p.R475C c.1423C>T 11 67069033 STAD C T Synonymous p.F177F c.531C>T 11 67059207 BLCA C T Synonymous p.P86P c.258C>T 11 67057824 BRCA C T Synonymous p.S425S c.1275C>T 11 67068796 STAD G A Missense p.A106T c.316G>A 11 67057882 HNSC G A Missense p.A389T c.1165G>A 11 67068552 OV G A Missense p.G262S c.784G>A 11 67066581 BRCA G A Missense p.G405D c.1214G>A 11 67068601 UCEC G A Missense p.R475H c.1424G>A 11 67069034 THCA G A Missense p.V317M c.949G>A 11 67067470 UCEC G A Missense p.V461M c.1381G>A 11 67068991 STAD G C Missense p.E124D c.372G>C 11 67058967 LUAD G T Missense p.R344L c.1031G>T 11 67067552 LUSC G T Missense p.V377L c.1129G>T 11 67068516 HNSC T G Missense p.V195G c.584T>G 11 67059504 LUSC