Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 228582932 228582932 + Missense_Mutation SNP T T C TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr1:228582932T>C c.881A>G c.(880-882)gAc>gGc p.D294G BLCA 1 228582549 228582549 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 g.chr1:228582549C>T c.1264G>A c.(1264-1266)Gat>Aat p.D422N BLCA 1 228582712 228582712 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:228582712C>T c.1101G>A c.(1099-1101)gaG>gaA p.E367E BLCA 1 228588850 228588850 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:228588850G>A c.550C>T c.(550-552)Cgt>Tgt p.R184C BLCA 1 228588854 228588854 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:228588854G>A c.546C>T c.(544-546)ttC>ttT p.F182F BLCA 1 228589812 228589812 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr1:228589812C>T c.459G>A c.(457-459)gcG>gcA p.A153A BLCA 1 228594121 228594121 + Missense_Mutation SNP C C T TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr1:228594121C>T c.142G>A c.(142-144)Gag>Aag p.E48K BLCA 1 228594194 228594194 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:228594194G>A c.69C>T c.(67-69)ttC>ttT p.F23F BLCA 1 228594250 228594250 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:228594250C>T c.13G>A c.(13-15)Gac>Aac p.D5N BRCA 1 228582831 228582831 + Missense_Mutation SNP C C T TCGA-D8-A141-01A-11D-A10Y-09 TCGA-D8-A141-10A-01D-A110-09 g.chr1:228582831C>T c.982G>A c.(982-984)Ggc>Agc p.G328S CESC 1 228588758 228588758 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 g.chr1:228588758G>A c.642C>T c.(640-642)ggC>ggT p.G214G CESC 1 228589841 228589841 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr1:228589841C>G c.430G>C c.(430-432)Gag>Cag p.E144Q COAD 1 228582876 228582876 + Frame_Shift_Del DEL C C - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:228582876delC c.937delG c.(937-939)gacfs p.D313fs COADREAD 1 228582876 228582876 + Frame_Shift_Del DEL C C - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:228582876delC c.937delG c.(937-939)gacfs p.D313fs COADREAD 1 228588858 228588858 + Missense_Mutation SNP T T C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr1:228588858T>C c.542A>G c.(541-543)gAg>gGg p.E181G COADREAD 1 228589824 228589824 + Silent SNP C C T TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr1:228589824C>T c.447G>A c.(445-447)caG>caA p.Q149Q DLBC 1 228589861 228589861 + Splice_Site SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr1:228589861G>A c.410C>T c.(409-411)gCg>gTg p.A137V DLBC 1 228594049 228594049 + Missense_Mutation SNP C C T TCGA-FA-A82F-01A-11D-A382-10 TCGA-FA-A82F-10A-01D-A385-10 g.chr1:228594049C>T c.214G>A c.(214-216)Gct>Act p.A72T ESCA 1 228582443 228582443 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr1:228582443G>A c.1370C>T c.(1369-1371)cCg>cTg p.P457L ESCA 1 228582844 228582844 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr1:228582844C>A c.969G>T c.(967-969)gaG>gaT p.E323D GBM 1 228582635 228582635 + Missense_Mutation SNP G G A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr1:228582635G>A c.1178C>T c.(1177-1179)gCc>gTc p.A393V GBMLGG 1 228582635 228582635 + Missense_Mutation SNP G G A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr1:228582635G>A c.1178C>T c.(1177-1179)gCc>gTc p.A393V GBMLGG 1 228588830 228588830 + Silent SNP T T A TCGA-DU-A76O-01A-11D-A32B-08 TCGA-DU-A76O-10A-01D-A329-08 g.chr1:228588830T>A c.570A>T c.(568-570)gcA>gcT p.A190A HNSC 1 228582764 228582764 + Missense_Mutation SNP T T C TCGA-CV-A45Y-01A-11D-A25D-08 TCGA-CV-A45Y-10A-01D-A25E-08 g.chr1:228582764T>C c.1049A>G c.(1048-1050)gAc>gGc p.D350G HNSC 1 228582787 228582787 + Silent SNP G G A TCGA-BA-A6DL-01A-21D-A30E-08 TCGA-BA-A6DL-10A-01D-A30H-08 g.chr1:228582787G>A c.1026C>T c.(1024-1026)caC>caT p.H342H HNSC 1 228584661 228584661 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 g.chr1:228584661C>T c.846G>A c.(844-846)ctG>ctA p.L282L HNSC 1 228584723 228584723 + Missense_Mutation SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr1:228584723G>A c.784C>T c.(784-786)Cca>Tca p.P262S KICH 1 228582602 228582602 + Missense_Mutation SNP A A G TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr1:228582602A>G c.1211T>C c.(1210-1212)gTg>gCg p.V404A KIPAN 1 228582602 228582602 + Missense_Mutation SNP A A G TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr1:228582602A>G c.1211T>C c.(1210-1212)gTg>gCg p.V404A KIPAN 1 228582654 228582654 + Missense_Mutation SNP A A T TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr1:228582654A>T c.1159T>A c.(1159-1161)Tac>Aac p.Y387N KIPAN 1 228584695 228584695 + Missense_Mutation SNP G G T TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr1:228584695G>T c.812C>A c.(811-813)aCc>aAc p.T271N KIRC 1 228582654 228582654 + Missense_Mutation SNP A A T TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr1:228582654A>T c.1159T>A c.(1159-1161)Tac>Aac p.Y387N KIRP 1 228584695 228584695 + Missense_Mutation SNP G G T TCGA-A4-8630-01A-11D-2396-08 TCGA-A4-8630-10A-01D-2396-08 g.chr1:228584695G>T c.812C>A c.(811-813)aCc>aAc p.T271N LGG 1 228588830 228588830 + Silent SNP T T A TCGA-DU-A76O-01A-11D-A32B-08 TCGA-DU-A76O-10A-01D-A329-08 g.chr1:228588830T>A c.570A>T c.(568-570)gcA>gcT p.A190A LIHC 1 228588704 228588704 + Silent SNP G G A TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr1:228588704G>A c.696C>T c.(694-696)ctC>ctT p.L232L LUAD 1 228582417 228582417 + Missense_Mutation SNP C C A TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr1:228582417C>A c.1396G>T c.(1396-1398)Gct>Tct p.A466S LUAD 1 228582508 228582508 + Silent SNP C C A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr1:228582508C>A c.1305G>T c.(1303-1305)tcG>tcT p.S435S LUAD 1 228582544 228582544 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr1:228582544C>A c.1269G>T c.(1267-1269)ggG>ggT p.G423G LUAD 1 228582607 228582607 + Frame_Shift_Del DEL C C - TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr1:228582607delC c.1206delG c.(1204-1206)aggfs p.R403fs LUAD 1 228582781 228582781 + Missense_Mutation SNP C C A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr1:228582781C>A c.1032G>T c.(1030-1032)tgG>tgT p.W344C LUAD 1 228582791 228582791 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:228582791C>A c.1022G>T c.(1021-1023)cGc>cTc p.R341L LUAD 1 228582919 228582919 + Silent SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 g.chr1:228582919A>T c.894T>A c.(892-894)ccT>ccA p.P298P LUAD 1 228584717 228584717 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr1:228584717C>A c.790G>T c.(790-792)Gtt>Ttt p.V264F LUSC 1 228582761 228582761 + Missense_Mutation SNP C C A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr1:228582761C>A c.1052G>T c.(1051-1053)cGc>cTc p.R351L LUSC 1 228584678 228584678 + Nonsense_Mutation SNP C C A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr1:228584678C>A c.829G>T c.(829-831)Gga>Tga p.G277* LUSC 1 228594100 228594100 + Missense_Mutation SNP C C T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr1:228594100C>T c.163G>A c.(163-165)Gag>Aag p.E55K READ 1 228588858 228588858 + Missense_Mutation SNP T T C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr1:228588858T>C c.542A>G c.(541-543)gAg>gGg p.E181G READ 1 228589824 228589824 + Silent SNP C C T TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr1:228589824C>T c.447G>A c.(445-447)caG>caA p.Q149Q SARC 1 228582509 228582509 + Missense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 g.chr1:228582509G>A c.1304C>T c.(1303-1305)tCg>tTg p.S435L SKCM 1 228582482 228582482 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:228582482G>A c.1331C>T c.(1330-1332)cCc>cTc p.P444L SKCM 1 228582509 228582509 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:228582509G>A c.1304C>T c.(1303-1305)tCg>tTg p.S435L SKCM 1 228582615 228582615 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:228582615G>A c.1198C>T c.(1198-1200)Cca>Tca p.P400S SKCM 1 228582616 228582616 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:228582616G>A c.1197C>T c.(1195-1197)gaC>gaT p.D399D SKCM 1 228582667 228582667 + Silent SNP G G A TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr1:228582667G>A c.1146C>T c.(1144-1146)ttC>ttT p.F382F SKCM 1 228582669 228582669 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr1:228582669A>C c.1144T>G c.(1144-1146)Ttc>Gtc p.F382V SKCM 1 228582770 228582770 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:228582770A>G c.1043T>C c.(1042-1044)gTt>gCt p.V348A SKCM 1 228588737 228588737 + Silent SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr1:228588737C>T c.663G>A c.(661-663)caG>caA p.Q221Q SKCM 1 228588893 228588893 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr1:228588893C>T c.507G>A c.(505-507)aaG>aaA p.K169K

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 1 228582712 228582712 single base substitution C T downstream_gene_variant BLCA-US 1 228582712 228582712 single base substitution C T exon_variant BLCA-US 1 228582712 228582712 single base substitution C T synonymous_variant E165E 495G>A BLCA-US 1 228582712 228582712 single base substitution C T synonymous_variant E242E 726G>A BLCA-US 1 228582712 228582712 single base substitution C T synonymous_variant E367E 1101G>A BLCA-US 1 228589812 228589812 single base substitution C T intron_variant BLCA-US 1 228589812 228589812 single base substitution C T synonymous_variant A153A 459G>A BLCA-US 1 228589812 228589812 single base substitution C T synonymous_variant A28A 84G>A BLCA-US 1 228589812 228589812 single base substitution C T upstream_gene_variant BRCA-EU 1 228576616 228576616 insertion of <=200bp - AAAAG downstream_gene_variant BRCA-EU 1 228576741 228576741 single base substitution C T downstream_gene_variant BRCA-EU 1 228577240 228577240 single base substitution C A downstream_gene_variant BRCA-EU 1 228577780 228577780 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 228578580 228578580 single base substitution C T downstream_gene_variant BRCA-EU 1 228579452 228579452 single base substitution G T downstream_gene_variant BRCA-EU 1 228579530 228579530 single base substitution G A downstream_gene_variant BRCA-EU 1 228579781 228579781 single base substitution G T downstream_gene_variant BRCA-EU 1 228580309 228580309 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 228580603 228580603 single base substitution A C downstream_gene_variant BRCA-EU 1 228582771 228582771 single base substitution C G downstream_gene_variant BRCA-EU 1 228582771 228582771 single base substitution C G exon_variant BRCA-EU 1 228582771 228582771 single base substitution C G missense_variant V146L 436G>C BRCA-EU 1 228582771 228582771 single base substitution C G missense_variant V223L 667G>C BRCA-EU 1 228582771 228582771 single base substitution C G missense_variant V348L 1042G>C BRCA-EU 1 228583461 228583461 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 228583461 228583461 single base substitution C A downstream_gene_variant BRCA-EU 1 228583461 228583461 single base substitution C A intron_variant BRCA-EU 1 228583583 228583583 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 228583583 228583583 single base substitution C A downstream_gene_variant BRCA-EU 1 228583583 228583583 single base substitution C A intron_variant BRCA-EU 1 228584174 228584174 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 228584174 228584174 single base substitution G C downstream_gene_variant BRCA-EU 1 228584174 228584174 single base substitution G C intron_variant BRCA-EU 1 228584286 228584296 deletion of <=200bp TGGGCAGCCCC - 3_prime_UTR_variant BRCA-EU 1 228584286 228584296 deletion of <=200bp TGGGCAGCCCC - downstream_gene_variant BRCA-EU 1 228584286 228584296 deletion of <=200bp TGGGCAGCCCC - intron_variant BRCA-EU 1 228584548 228584548 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 228584548 228584548 single base substitution G C intron_variant BRCA-EU 1 228584548 228584548 single base substitution G C missense_variant S320C 959C>G BRCA-EU 1 228587314 228587314 single base substitution C G intron_variant BRCA-EU 1 228587314 228587314 single base substitution C G upstream_gene_variant BRCA-EU 1 228587477 228587477 single base substitution C T intron_variant BRCA-EU 1 228587477 228587477 single base substitution C T upstream_gene_variant BRCA-EU 1 228589544 228589544 single base substitution G A intron_variant BRCA-EU 1 228589544 228589544 single base substitution G A upstream_gene_variant BRCA-EU 1 228589773 228589773 single base substitution C G exon_variant BRCA-EU 1 228589773 228589773 single base substitution C G intron_variant BRCA-EU 1 228589773 228589773 single base substitution C G missense_variant L166F 498G>C BRCA-EU 1 228589773 228589773 single base substitution C G missense_variant L41F 123G>C BRCA-EU 1 228589773 228589773 single base substitution C G upstream_gene_variant BRCA-EU 1 228589838 228589838 single base substitution G A intron_variant BRCA-EU 1 228589838 228589838 single base substitution G A missense_variant H145Y 433C>T BRCA-EU 1 228589838 228589838 single base substitution G A missense_variant H20Y 58C>T BRCA-EU 1 228589838 228589838 single base substitution G A upstream_gene_variant BRCA-EU 1 228590161 228590161 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 228590161 228590161 single base substitution G C intron_variant BRCA-EU 1 228590161 228590161 single base substitution G C upstream_gene_variant BRCA-EU 1 228590592 228590592 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 228590592 228590592 single base substitution C T intron_variant BRCA-EU 1 228590592 228590592 single base substitution C T upstream_gene_variant BRCA-EU 1 228591331 228591331 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 228591331 228591331 single base substitution C T intron_variant BRCA-EU 1 228591331 228591331 single base substitution C T upstream_gene_variant BRCA-EU 1 228592787 228592787 single base substitution T A 5_prime_UTR_variant BRCA-EU 1 228592787 228592787 single base substitution T A intron_variant BRCA-EU 1 228592787 228592787 single base substitution T A upstream_gene_variant BRCA-EU 1 228593412 228593412 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 228593412 228593412 single base substitution G T intron_variant BRCA-EU 1 228593412 228593412 single base substitution G T upstream_gene_variant BRCA-EU 1 228593725 228593725 single base substitution C T intron_variant BRCA-EU 1 228593725 228593725 single base substitution C T upstream_gene_variant BRCA-EU 1 228594121 228594121 single base substitution C T missense_variant E48K 142G>A BRCA-EU 1 228594121 228594121 single base substitution C T upstream_gene_variant BRCA-EU 1 228594484 228594484 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 228594484 228594484 single base substitution G C upstream_gene_variant BRCA-EU 1 228595071 228595071 single base substitution C G upstream_gene_variant BRCA-EU 1 228596320 228596320 single base substitution C G upstream_gene_variant BRCA-EU 1 228596779 228596779 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 228598162 228598162 single base substitution T A upstream_gene_variant BRCA-EU 1 228599042 228599042 single base substitution T G upstream_gene_variant BRCA-FR 1 228576605 228576605 single base substitution A G downstream_gene_variant BRCA-FR 1 228579530 228579530 single base substitution G A downstream_gene_variant BRCA-FR 1 228584174 228584174 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 228584174 228584174 single base substitution G C downstream_gene_variant BRCA-FR 1 228584174 228584174 single base substitution G C intron_variant BRCA-FR 1 228584548 228584548 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 228584548 228584548 single base substitution G C intron_variant BRCA-FR 1 228584548 228584548 single base substitution G C missense_variant S320C 959C>G BRCA-FR 1 228594115 228594115 single base substitution G T missense_variant P50T 148C>A BRCA-FR 1 228594115 228594115 single base substitution G T upstream_gene_variant BRCA-UK 1 228577193 228577193 single base substitution C T downstream_gene_variant BRCA-UK 1 228582750 228582750 single base substitution C T downstream_gene_variant BRCA-UK 1 228582750 228582750 single base substitution C T exon_variant BRCA-UK 1 228582750 228582750 single base substitution C T missense_variant A153T 457G>A BRCA-UK 1 228582750 228582750 single base substitution C T missense_variant A230T 688G>A BRCA-UK 1 228582750 228582750 single base substitution C T missense_variant A355T 1063G>A BRCA-UK 1 228596178 228596178 single base substitution G A upstream_gene_variant BRCA-US 1 228582831 228582831 single base substitution C T downstream_gene_variant BRCA-US 1 228582831 228582831 single base substitution C T exon_variant BRCA-US 1 228582831 228582831 single base substitution C T missense_variant G126S 376G>A BRCA-US 1 228582831 228582831 single base substitution C T missense_variant G203S 607G>A BRCA-US 1 228582831 228582831 single base substitution C T missense_variant G328S 982G>A BRCA-US 1 228584876 228584876 single base substitution G C exon_variant BRCA-US 1 228584876 228584876 single base substitution G C intron_variant BRCA-US 1 228596209 228596209 single base substitution C T upstream_gene_variant BRCA-US 1 228596779 228596779 deletion of <=200bp C - upstream_gene_variant BRCA-US 1 228596888 228596888 single base substitution G C upstream_gene_variant BRCA-US 1 228598716 228598716 single base substitution A T upstream_gene_variant BTCA-JP 1 228582790 228582790 single base substitution G A downstream_gene_variant BTCA-JP 1 228582790 228582790 single base substitution G A exon_variant BTCA-JP 1 228582790 228582790 single base substitution G A synonymous_variant R139R 417C>T BTCA-JP 1 228582790 228582790 single base substitution G A synonymous_variant R216R 648C>T BTCA-JP 1 228582790 228582790 single base substitution G A synonymous_variant R341R 1023C>T BTCA-JP 1 228582878 228582878 single base substitution C G downstream_gene_variant BTCA-JP 1 228582878 228582878 single base substitution C G exon_variant BTCA-JP 1 228582878 228582878 single base substitution C G missense_variant G110A 329G>C BTCA-JP 1 228582878 228582878 single base substitution C G missense_variant G187A 560G>C BTCA-JP 1 228582878 228582878 single base substitution C G missense_variant G312A 935G>C CESC-US 1 228588758 228588758 single base substitution G A exon_variant CESC-US 1 228588758 228588758 single base substitution G A intron_variant CESC-US 1 228588758 228588758 single base substitution G A synonymous_variant G214G 642C>T CESC-US 1 228588758 228588758 single base substitution G A synonymous_variant G89G 267C>T CESC-US 1 228588758 228588758 single base substitution G A upstream_gene_variant CESC-US 1 228589841 228589841 single base substitution C G intron_variant CESC-US 1 228589841 228589841 single base substitution C G missense_variant E144Q 430G>C CESC-US 1 228589841 228589841 single base substitution C G missense_variant E19Q 55G>C CESC-US 1 228589841 228589841 single base substitution C G upstream_gene_variant CESC-US 1 228596204 228596204 single base substitution C A upstream_gene_variant CESC-US 1 228596276 228596276 single base substitution C G upstream_gene_variant CLLE-ES 1 228589608 228589608 single base substitution C T intron_variant CLLE-ES 1 228589608 228589608 single base substitution C T upstream_gene_variant CLLE-ES 1 228597791 228597791 single base substitution T C upstream_gene_variant COAD-US 1 228582643 228582643 single base substitution C T downstream_gene_variant COAD-US 1 228582643 228582643 single base substitution C T exon_variant COAD-US 1 228582643 228582643 single base substitution C T synonymous_variant S188S 564G>A COAD-US 1 228582643 228582643 single base substitution C T synonymous_variant S265S 795G>A COAD-US 1 228582643 228582643 single base substitution C T synonymous_variant S390S 1170G>A COAD-US 1 228588680 228588680 single base substitution A C exon_variant COAD-US 1 228588680 228588680 single base substitution A C intron_variant COAD-US 1 228588680 228588680 single base substitution A C synonymous_variant A115A 345T>G COAD-US 1 228588680 228588680 single base substitution A C synonymous_variant A240A 720T>G COAD-US 1 228588680 228588680 single base substitution A C upstream_gene_variant COAD-US 1 228596290 228596290 single base substitution C A upstream_gene_variant COAD-US 1 228596338 228596338 single base substitution C T upstream_gene_variant COAD-US 1 228596778 228596778 insertion of <=200bp - C upstream_gene_variant COAD-US 1 228596799 228596799 single base substitution C T upstream_gene_variant COAD-US 1 228596898 228596898 single base substitution C T upstream_gene_variant COAD-US 1 228598861 228598861 single base substitution C T upstream_gene_variant COCA-CN 1 228582403 228582403 single base substitution G A 3_prime_UTR_variant COCA-CN 1 228582403 228582403 single base substitution G A downstream_gene_variant COCA-CN 1 228582403 228582403 single base substitution G A exon_variant COCA-CN 1 228584452 228584452 single base substitution G T 3_prime_UTR_variant COCA-CN 1 228584452 228584452 single base substitution G T intron_variant COCA-CN 1 228584452 228584452 single base substitution G T missense_variant S352Y 1055C>A COCA-CN 1 228596966 228596966 single base substitution C T upstream_gene_variant ESAD-UK 1 228576905 228576905 single base substitution C T downstream_gene_variant ESAD-UK 1 228577486 228577486 single base substitution G T downstream_gene_variant ESAD-UK 1 228582470 228582470 single base substitution C A downstream_gene_variant ESAD-UK 1 228582470 228582470 single base substitution C A exon_variant ESAD-UK 1 228582470 228582470 single base substitution C A missense_variant S323I 968G>T ESAD-UK 1 228582470 228582470 single base substitution C A missense_variant S448I 1343G>T ESAD-UK 1 228583594 228583594 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 228583594 228583594 single base substitution C T downstream_gene_variant ESAD-UK 1 228583594 228583594 single base substitution C T intron_variant ESAD-UK 1 228584336 228584336 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 228584336 228584336 single base substitution T C intron_variant ESAD-UK 1 228585284 228585284 single base substitution C T exon_variant ESAD-UK 1 228585284 228585284 single base substitution C T intron_variant ESAD-UK 1 228586858 228586858 single base substitution G A intron_variant ESAD-UK 1 228586858 228586858 single base substitution G A upstream_gene_variant ESAD-UK 1 228593184 228593184 single base substitution A T 5_prime_UTR_variant ESAD-UK 1 228593184 228593184 single base substitution A T intron_variant ESAD-UK 1 228593184 228593184 single base substitution A T upstream_gene_variant ESAD-UK 1 228594158 228594158 single base substitution G T missense_variant F35L 105C>A ESAD-UK 1 228594158 228594158 single base substitution G T upstream_gene_variant ESAD-UK 1 228595460 228595460 single base substitution C T upstream_gene_variant ESAD-UK 1 228597042 228597042 single base substitution C A upstream_gene_variant ESAD-UK 1 228599000 228599000 single base substitution C T upstream_gene_variant ESAD-UK 1 228599316 228599316 single base substitution C A upstream_gene_variant ESCA-CN 1 228596438 228596438 single base substitution C T upstream_gene_variant ESCA-CN 1 228596778 228596778 insertion of <=200bp - C upstream_gene_variant GBM-US 1 228582635 228582635 single base substitution G A downstream_gene_variant GBM-US 1 228582635 228582635 single base substitution G A exon_variant GBM-US 1 228582635 228582635 single base substitution G A missense_variant A191V 572C>T GBM-US 1 228582635 228582635 single base substitution G A missense_variant A268V 803C>T GBM-US 1 228582635 228582635 single base substitution G A missense_variant A393V 1178C>T KIRC-US 1 228582654 228582654 single base substitution A T downstream_gene_variant KIRC-US 1 228582654 228582654 single base substitution A T exon_variant KIRC-US 1 228582654 228582654 single base substitution A T missense_variant Y185N 553T>A KIRC-US 1 228582654 228582654 single base substitution A T missense_variant Y262N 784T>A KIRC-US 1 228582654 228582654 single base substitution A T missense_variant Y387N 1159T>A KIRP-US 1 228584695 228584695 single base substitution G T 3_prime_UTR_variant KIRP-US 1 228584695 228584695 single base substitution G T exon_variant KIRP-US 1 228584695 228584695 single base substitution G T missense_variant T146N 437C>A KIRP-US 1 228584695 228584695 single base substitution G T missense_variant T271N 812C>A KIRP-US 1 228584695 228584695 single base substitution G T missense_variant T69N 206C>A LAML-KR 1 228576581 228576581 single base substitution C A downstream_gene_variant LICA-CN 1 228584687 228584687 single base substitution T C 3_prime_UTR_variant LICA-CN 1 228584687 228584687 single base substitution T C exon_variant LICA-CN 1 228584687 228584687 single base substitution T C missense_variant R149G 445A>G LICA-CN 1 228584687 228584687 single base substitution T C missense_variant R274G 820A>G LICA-CN 1 228584687 228584687 single base substitution T C missense_variant R72G 214A>G LICA-FR 1 228588796 228588796 single base substitution C T exon_variant LICA-FR 1 228588796 228588796 single base substitution C T intron_variant LICA-FR 1 228588796 228588796 single base substitution C T missense_variant E202K 604G>A LICA-FR 1 228588796 228588796 single base substitution C T missense_variant E77K 229G>A LICA-FR 1 228588796 228588796 single base substitution C T upstream_gene_variant LICA-FR 1 228592750 228592750 single base substitution C A 5_prime_UTR_variant LICA-FR 1 228592750 228592750 single base substitution C A intron_variant LICA-FR 1 228592750 228592750 single base substitution C A upstream_gene_variant LICA-FR 1 228596302 228596302 single base substitution G A upstream_gene_variant LICA-FR 1 228596933 228596933 insertion of <=200bp - T upstream_gene_variant LICA-FR 1 228598619 228598619 single base substitution A C upstream_gene_variant LINC-JP 1 228577405 228577405 single base substitution G T downstream_gene_variant LINC-JP 1 228582790 228582790 single base substitution G A downstream_gene_variant LINC-JP 1 228582790 228582790 single base substitution G A exon_variant LINC-JP 1 228582790 228582790 single base substitution G A synonymous_variant R139R 417C>T LINC-JP 1 228582790 228582790 single base substitution G A synonymous_variant R216R 648C>T LINC-JP 1 228582790 228582790 single base substitution G A synonymous_variant R341R 1023C>T LINC-JP 1 228585563 228585563 single base substitution T C intron_variant LINC-JP 1 228585563 228585563 single base substitution T C upstream_gene_variant LINC-JP 1 228588865 228588865 single base substitution G A exon_variant LINC-JP 1 228588865 228588865 single base substitution G A intron_variant LINC-JP 1 228588865 228588865 single base substitution G A synonymous_variant L179L 535C>T LINC-JP 1 228588865 228588865 single base substitution G A synonymous_variant L54L 160C>T LINC-JP 1 228588865 228588865 single base substitution G A upstream_gene_variant LINC-JP 1 228597066 228597066 single base substitution C G upstream_gene_variant LINC-JP 1 228597945 228597945 single base substitution G A upstream_gene_variant LINC-JP 1 228598685 228598685 single base substitution C A upstream_gene_variant LIRI-JP 1 228576565 228576565 single base substitution G T downstream_gene_variant LIRI-JP 1 228577188 228577188 single base substitution G A downstream_gene_variant LIRI-JP 1 228579597 228579599 deletion of <=200bp GGA - downstream_gene_variant LIRI-JP 1 228582276 228582276 single base substitution G C 3_prime_UTR_variant LIRI-JP 1 228582276 228582276 single base substitution G C downstream_gene_variant LIRI-JP 1 228582276 228582276 single base substitution G C exon_variant LIRI-JP 1 228585687 228585687 single base substitution T C intron_variant LIRI-JP 1 228585687 228585687 single base substitution T C upstream_gene_variant LIRI-JP 1 228589425 228589425 single base substitution A T intron_variant LIRI-JP 1 228589425 228589425 single base substitution A T upstream_gene_variant LIRI-JP 1 228590411 228590411 single base substitution G A 5_prime_UTR_variant LIRI-JP 1 228590411 228590411 single base substitution G A intron_variant LIRI-JP 1 228590411 228590411 single base substitution G A upstream_gene_variant LIRI-JP 1 228596779 228596779 insertion of <=200bp - C upstream_gene_variant LIRI-JP 1 228596912 228596912 single base substitution T C upstream_gene_variant LIRI-JP 1 228597583 228597583 single base substitution A G upstream_gene_variant LIRI-JP 1 228598211 228598211 single base substitution C T upstream_gene_variant LUSC-KR 1 228577187 228577187 single base substitution C T downstream_gene_variant LUSC-KR 1 228579064 228579064 single base substitution C T downstream_gene_variant LUSC-KR 1 228589241 228589241 single base substitution C G intron_variant LUSC-KR 1 228589241 228589241 single base substitution C G upstream_gene_variant LUSC-KR 1 228590108 228590108 single base substitution C G 5_prime_UTR_variant LUSC-KR 1 228590108 228590108 single base substitution C G intron_variant LUSC-KR 1 228590108 228590108 single base substitution C G upstream_gene_variant LUSC-KR 1 228593840 228593840 single base substitution C A intron_variant LUSC-KR 1 228593840 228593840 single base substitution C A upstream_gene_variant LUSC-KR 1 228595715 228595715 single base substitution C G upstream_gene_variant LUSC-US 1 228582761 228582761 single base substitution C A downstream_gene_variant LUSC-US 1 228582761 228582761 single base substitution C A exon_variant LUSC-US 1 228582761 228582761 single base substitution C A missense_variant R149L 446G>T LUSC-US 1 228582761 228582761 single base substitution C A missense_variant R226L 677G>T LUSC-US 1 228582761 228582761 single base substitution C A missense_variant R351L 1052G>T LUSC-US 1 228584678 228584678 single base substitution C A 3_prime_UTR_variant LUSC-US 1 228584678 228584678 single base substitution C A exon_variant LUSC-US 1 228584678 228584678 single base substitution C A stop_gained G152* 454G>T LUSC-US 1 228584678 228584678 single base substitution C A stop_gained G277* 829G>T LUSC-US 1 228584678 228584678 single base substitution C A stop_gained G75* 223G>T LUSC-US 1 228594100 228594100 single base substitution C T missense_variant E55K 163G>A LUSC-US 1 228594100 228594100 single base substitution C T upstream_gene_variant LUSC-US 1 228596932 228596932 single base substitution G T upstream_gene_variant MALY-DE 1 228587155 228587155 single base substitution C A intron_variant MALY-DE 1 228587155 228587155 single base substitution C A upstream_gene_variant MALY-DE 1 228587683 228587683 single base substitution C G intron_variant MALY-DE 1 228587683 228587683 single base substitution C G upstream_gene_variant MALY-DE 1 228590060 228590060 single base substitution C G 5_prime_UTR_variant MALY-DE 1 228590060 228590060 single base substitution C G intron_variant MALY-DE 1 228590060 228590060 single base substitution C G upstream_gene_variant MALY-DE 1 228590606 228590606 single base substitution C T 5_prime_UTR_variant MALY-DE 1 228590606 228590606 single base substitution C T intron_variant MALY-DE 1 228590606 228590606 single base substitution C T upstream_gene_variant MELA-AU 1 228576517 228576517 single base substitution C T downstream_gene_variant MELA-AU 1 228576523 228576523 single base substitution G A downstream_gene_variant MELA-AU 1 228576608 228576608 single base substitution A T downstream_gene_variant MELA-AU 1 228576640 228576640 single base substitution G A downstream_gene_variant MELA-AU 1 228577259 228577259 single base substitution C T downstream_gene_variant MELA-AU 1 228577700 228577700 single base substitution G A downstream_gene_variant MELA-AU 1 228578552 228578552 single base substitution C T downstream_gene_variant MELA-AU 1 228578574 228578574 single base substitution G A downstream_gene_variant MELA-AU 1 228578584 228578584 single base substitution A C downstream_gene_variant MELA-AU 1 228578615 228578615 single base substitution C T downstream_gene_variant MELA-AU 1 228579002 228579002 single base substitution G A downstream_gene_variant MELA-AU 1 228579213 228579213 single base substitution G A downstream_gene_variant MELA-AU 1 228579615 228579615 single base substitution G A downstream_gene_variant MELA-AU 1 228579993 228579993 single base substitution G A downstream_gene_variant MELA-AU 1 228580535 228580535 single base substitution G A downstream_gene_variant MELA-AU 1 228580588 228580588 insertion of <=200bp - GAT downstream_gene_variant MELA-AU 1 228581922 228581922 single base substitution G T 3_prime_UTR_variant MELA-AU 1 228581922 228581922 single base substitution G T downstream_gene_variant MELA-AU 1 228582020 228582020 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228582020 228582020 single base substitution C T downstream_gene_variant MELA-AU 1 228582067 228582067 single base substitution G A 3_prime_UTR_variant MELA-AU 1 228582067 228582067 single base substitution G A downstream_gene_variant MELA-AU 1 228582202 228582202 single base substitution G A 3_prime_UTR_variant MELA-AU 1 228582202 228582202 single base substitution G A downstream_gene_variant MELA-AU 1 228582202 228582202 single base substitution G A exon_variant MELA-AU 1 228582413 228582413 single base substitution G A downstream_gene_variant MELA-AU 1 228582413 228582413 single base substitution G A exon_variant MELA-AU 1 228582413 228582413 single base substitution G A missense_variant P342L 1025C>T MELA-AU 1 228582413 228582413 single base substitution G A missense_variant P467L 1400C>T MELA-AU 1 228582575 228582575 single base substitution C A downstream_gene_variant MELA-AU 1 228582575 228582575 single base substitution C A exon_variant MELA-AU 1 228582575 228582575 single base substitution C A missense_variant G211V 632G>T MELA-AU 1 228582575 228582575 single base substitution C A missense_variant G288V 863G>T MELA-AU 1 228582575 228582575 single base substitution C A missense_variant G413V 1238G>T MELA-AU 1 228582646 228582646 single base substitution G A downstream_gene_variant MELA-AU 1 228582646 228582646 single base substitution G A exon_variant MELA-AU 1 228582646 228582646 single base substitution G A synonymous_variant S187S 561C>T MELA-AU 1 228582646 228582646 single base substitution G A synonymous_variant S264S 792C>T MELA-AU 1 228582646 228582646 single base substitution G A synonymous_variant S389S 1167C>T MELA-AU 1 228583434 228583434 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228583434 228583434 single base substitution C T downstream_gene_variant MELA-AU 1 228583434 228583434 single base substitution C T intron_variant MELA-AU 1 228584325 228584325 single base substitution G A 3_prime_UTR_variant MELA-AU 1 228584325 228584325 single base substitution G A intron_variant MELA-AU 1 228584419 228584419 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228584419 228584419 single base substitution C T intron_variant MELA-AU 1 228584419 228584419 single base substitution C T missense_variant G363E 1088G>A MELA-AU 1 228585113 228585113 single base substitution G A exon_variant MELA-AU 1 228585113 228585113 single base substitution G A intron_variant MELA-AU 1 228585398 228585398 single base substitution G A intron_variant MELA-AU 1 228585398 228585398 single base substitution G A upstream_gene_variant MELA-AU 1 228585813 228585813 single base substitution T C intron_variant MELA-AU 1 228585813 228585813 single base substitution T C upstream_gene_variant MELA-AU 1 228585884 228585884 single base substitution T C intron_variant MELA-AU 1 228585884 228585884 single base substitution T C upstream_gene_variant MELA-AU 1 228586324 228586324 single base substitution A T intron_variant MELA-AU 1 228586324 228586324 single base substitution A T upstream_gene_variant MELA-AU 1 228586533 228586533 single base substitution G A intron_variant MELA-AU 1 228586533 228586533 single base substitution G A upstream_gene_variant MELA-AU 1 228586655 228586655 single base substitution G A intron_variant MELA-AU 1 228586655 228586655 single base substitution G A upstream_gene_variant MELA-AU 1 228587028 228587028 single base substitution G A intron_variant MELA-AU 1 228587028 228587028 single base substitution G A upstream_gene_variant MELA-AU 1 228587493 228587493 single base substitution G A intron_variant MELA-AU 1 228587493 228587493 single base substitution G A upstream_gene_variant MELA-AU 1 228587540 228587540 single base substitution G A intron_variant MELA-AU 1 228587540 228587540 single base substitution G A upstream_gene_variant MELA-AU 1 228587709 228587709 single base substitution G A intron_variant MELA-AU 1 228587709 228587709 single base substitution G A upstream_gene_variant MELA-AU 1 228587953 228587953 single base substitution G A intron_variant MELA-AU 1 228587953 228587953 single base substitution G A upstream_gene_variant MELA-AU 1 228588218 228588218 single base substitution G A intron_variant MELA-AU 1 228588218 228588218 single base substitution G A upstream_gene_variant MELA-AU 1 228588356 228588356 single base substitution G A intron_variant MELA-AU 1 228588356 228588356 single base substitution G A upstream_gene_variant MELA-AU 1 228588799 228588799 single base substitution C T exon_variant MELA-AU 1 228588799 228588799 single base substitution C T intron_variant MELA-AU 1 228588799 228588799 single base substitution C T missense_variant E201K 601G>A MELA-AU 1 228588799 228588799 single base substitution C T missense_variant E76K 226G>A MELA-AU 1 228588799 228588799 single base substitution C T upstream_gene_variant MELA-AU 1 228589130 228589130 single base substitution G A intron_variant MELA-AU 1 228589130 228589130 single base substitution G A upstream_gene_variant MELA-AU 1 228589883 228589883 single base substitution G A intron_variant MELA-AU 1 228589883 228589883 single base substitution G A missense_variant P5S 13C>T MELA-AU 1 228589883 228589883 single base substitution G A upstream_gene_variant MELA-AU 1 228589991 228589991 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228589991 228589991 single base substitution G A intron_variant MELA-AU 1 228589991 228589991 single base substitution G A upstream_gene_variant MELA-AU 1 228590162 228590162 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228590162 228590162 single base substitution G A intron_variant MELA-AU 1 228590162 228590162 single base substitution G A upstream_gene_variant MELA-AU 1 228590429 228590429 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228590429 228590429 single base substitution G A intron_variant MELA-AU 1 228590429 228590429 single base substitution G A upstream_gene_variant MELA-AU 1 228590729 228590729 single base substitution C T 5_prime_UTR_variant MELA-AU 1 228590729 228590729 single base substitution C T intron_variant MELA-AU 1 228590729 228590729 single base substitution C T upstream_gene_variant MELA-AU 1 228591349 228591349 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 228591349 228591349 single base substitution G A intron_variant MELA-AU 1 228591349 228591349 single base substitution G A upstream_gene_variant MELA-AU 1 228591981 228591981 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228591981 228591981 single base substitution G A intron_variant MELA-AU 1 228591981 228591981 single base substitution G A upstream_gene_variant MELA-AU 1 228592124 228592124 insertion of <=200bp - G 5_prime_UTR_variant MELA-AU 1 228592124 228592124 insertion of <=200bp - G intron_variant MELA-AU 1 228592124 228592124 insertion of <=200bp - G upstream_gene_variant MELA-AU 1 228592681 228592681 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228592681 228592681 single base substitution G A intron_variant MELA-AU 1 228592681 228592681 single base substitution G A upstream_gene_variant MELA-AU 1 228592912 228592912 single base substitution A G 5_prime_UTR_variant MELA-AU 1 228592912 228592912 single base substitution A G intron_variant MELA-AU 1 228592912 228592912 single base substitution A G upstream_gene_variant MELA-AU 1 228592944 228592944 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228592944 228592944 single base substitution G A intron_variant MELA-AU 1 228592944 228592944 single base substitution G A upstream_gene_variant MELA-AU 1 228593353 228593353 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228593353 228593353 single base substitution G A intron_variant MELA-AU 1 228593353 228593353 single base substitution G A upstream_gene_variant MELA-AU 1 228593594 228593594 single base substitution C T 5_prime_UTR_variant MELA-AU 1 228593594 228593594 single base substitution C T intron_variant MELA-AU 1 228593594 228593594 single base substitution C T upstream_gene_variant MELA-AU 1 228593764 228593764 single base substitution C T intron_variant MELA-AU 1 228593764 228593764 single base substitution C T upstream_gene_variant MELA-AU 1 228596534 228596534 single base substitution G A upstream_gene_variant MELA-AU 1 228597236 228597236 single base substitution C T upstream_gene_variant MELA-AU 1 228597732 228597733 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 228597813 228597813 single base substitution T G upstream_gene_variant MELA-AU 1 228598044 228598044 single base substitution C T upstream_gene_variant MELA-AU 1 228598474 228598474 single base substitution C T upstream_gene_variant MELA-AU 1 228598824 228598824 single base substitution G C upstream_gene_variant ORCA-IN 1 228583961 228583961 single base substitution A G 3_prime_UTR_variant ORCA-IN 1 228583961 228583961 single base substitution A G downstream_gene_variant ORCA-IN 1 228583961 228583961 single base substitution A G intron_variant ORCA-IN 1 228584934 228584934 single base substitution C A exon_variant ORCA-IN 1 228584934 228584934 single base substitution C A intron_variant ORCA-IN 1 228590481 228590481 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 1 228590481 228590481 single base substitution G C intron_variant ORCA-IN 1 228590481 228590481 single base substitution G C upstream_gene_variant OV-AU 1 228577973 228577973 single base substitution G C downstream_gene_variant OV-AU 1 228579066 228579066 single base substitution C G downstream_gene_variant OV-AU 1 228579227 228579227 single base substitution C T downstream_gene_variant OV-AU 1 228584694 228584694 single base substitution G A 3_prime_UTR_variant OV-AU 1 228584694 228584694 single base substitution G A exon_variant OV-AU 1 228584694 228584694 single base substitution G A synonymous_variant T146T 438C>T OV-AU 1 228584694 228584694 single base substitution G A synonymous_variant T271T 813C>T OV-AU 1 228584694 228584694 single base substitution G A synonymous_variant T69T 207C>T OV-AU 1 228586775 228586775 single base substitution C A intron_variant OV-AU 1 228586775 228586775 single base substitution C A upstream_gene_variant OV-AU 1 228588918 228588918 single base substitution C T intron_variant OV-AU 1 228588918 228588918 single base substitution C T upstream_gene_variant OV-AU 1 228591999 228591999 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 1 228591999 228591999 single base substitution C A intron_variant OV-AU 1 228591999 228591999 single base substitution C A upstream_gene_variant OV-AU 1 228593310 228593310 single base substitution C G 5_prime_UTR_variant OV-AU 1 228593310 228593310 single base substitution C G intron_variant OV-AU 1 228593310 228593310 single base substitution C G upstream_gene_variant OV-AU 1 228593869 228593869 single base substitution C A missense_variant A132S 394G>T OV-AU 1 228593869 228593869 single base substitution C A missense_variant A7S 19G>T OV-AU 1 228593869 228593869 single base substitution C A upstream_gene_variant OV-AU 1 228594485 228594485 single base substitution G C 5_prime_UTR_variant OV-AU 1 228594485 228594485 single base substitution G C upstream_gene_variant OV-AU 1 228597164 228597164 single base substitution C G upstream_gene_variant OV-AU 1 228599264 228599264 single base substitution G C upstream_gene_variant OV-US 1 228595964 228595964 single base substitution G T upstream_gene_variant PACA-AU 1 228577454 228577454 single base substitution A T downstream_gene_variant PACA-AU 1 228582727 228582727 single base substitution G A downstream_gene_variant PACA-AU 1 228582727 228582727 single base substitution G A exon_variant PACA-AU 1 228582727 228582727 single base substitution G A synonymous_variant N160N 480C>T PACA-AU 1 228582727 228582727 single base substitution G A synonymous_variant N237N 711C>T PACA-AU 1 228582727 228582727 single base substitution G A synonymous_variant N362N 1086C>T PACA-AU 1 228586672 228586672 single base substitution A T intron_variant PACA-AU 1 228586672 228586672 single base substitution A T upstream_gene_variant PACA-AU 1 228588877 228588877 single base substitution G A exon_variant PACA-AU 1 228588877 228588877 single base substitution G A intron_variant PACA-AU 1 228588877 228588877 single base substitution G A missense_variant R175W 523C>T PACA-AU 1 228588877 228588877 single base substitution G A missense_variant R50W 148C>T PACA-AU 1 228588877 228588877 single base substitution G A upstream_gene_variant PACA-AU 1 228591954 228591958 deletion of <=200bp CTCCC - 5_prime_UTR_variant PACA-AU 1 228591954 228591958 deletion of <=200bp CTCCC - intron_variant PACA-AU 1 228591954 228591958 deletion of <=200bp CTCCC - upstream_gene_variant PACA-AU 1 228593597 228593597 single base substitution A C 5_prime_UTR_variant PACA-AU 1 228593597 228593597 single base substitution A C intron_variant PACA-AU 1 228593597 228593597 single base substitution A C upstream_gene_variant PACA-AU 1 228594299 228594299 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 1 228594299 228594299 single base substitution G A upstream_gene_variant PACA-AU 1 228594334 228594334 single base substitution A G 5_prime_UTR_variant PACA-AU 1 228594334 228594334 single base substitution A G upstream_gene_variant PACA-AU 1 228596268 228596268 single base substitution G A upstream_gene_variant PACA-AU 1 228599465 228599465 single base substitution C T upstream_gene_variant PACA-CA 1 228576671 228576671 single base substitution G A downstream_gene_variant PACA-CA 1 228579877 228579878 deletion of <=200bp AC - downstream_gene_variant PACA-CA 1 228582702 228582702 single base substitution G C downstream_gene_variant PACA-CA 1 228582702 228582702 single base substitution G C exon_variant PACA-CA 1 228582702 228582702 single base substitution G C missense_variant L169V 505C>G PACA-CA 1 228582702 228582702 single base substitution G C missense_variant L246V 736C>G PACA-CA 1 228582702 228582702 single base substitution G C missense_variant L371V 1111C>G PACA-CA 1 228582792 228582792 single base substitution G A downstream_gene_variant PACA-CA 1 228582792 228582792 single base substitution G A exon_variant PACA-CA 1 228582792 228582792 single base substitution G A missense_variant R139C 415C>T PACA-CA 1 228582792 228582792 single base substitution G A missense_variant R216C 646C>T PACA-CA 1 228582792 228582792 single base substitution G A missense_variant R341C 1021C>T PACA-CA 1 228584679 228584679 single base substitution C T 3_prime_UTR_variant PACA-CA 1 228584679 228584679 single base substitution C T exon_variant PACA-CA 1 228584679 228584679 single base substitution C T synonymous_variant P151P 453G>A PACA-CA 1 228584679 228584679 single base substitution C T synonymous_variant P276P 828G>A PACA-CA 1 228584679 228584679 single base substitution C T synonymous_variant P74P 222G>A PACA-CA 1 228584700 228584700 single base substitution C A 3_prime_UTR_variant PACA-CA 1 228584700 228584700 single base substitution C A exon_variant PACA-CA 1 228584700 228584700 single base substitution C A synonymous_variant L144L 432G>T PACA-CA 1 228584700 228584700 single base substitution C A synonymous_variant L269L 807G>T PACA-CA 1 228584700 228584700 single base substitution C A synonymous_variant L67L 201G>T PACA-CA 1 228589009 228589009 single base substitution C T intron_variant PACA-CA 1 228589009 228589009 single base substitution C T upstream_gene_variant PACA-CA 1 228592790 228592790 single base substitution T C 5_prime_UTR_variant PACA-CA 1 228592790 228592790 single base substitution T C intron_variant PACA-CA 1 228592790 228592790 single base substitution T C upstream_gene_variant PACA-CA 1 228596112 228596112 single base substitution C T upstream_gene_variant PAEN-IT 1 228582145 228582145 single base substitution C A 3_prime_UTR_variant PAEN-IT 1 228582145 228582145 single base substitution C A downstream_gene_variant PAEN-IT 1 228583650 228583650 single base substitution C T 3_prime_UTR_variant PAEN-IT 1 228583650 228583650 single base substitution C T downstream_gene_variant PAEN-IT 1 228583650 228583650 single base substitution C T intron_variant PBCA-DE 1 228585398 228585398 single base substitution G A intron_variant PBCA-DE 1 228585398 228585398 single base substitution G A upstream_gene_variant PRAD-CA 1 228582784 228582784 single base substitution G A downstream_gene_variant PRAD-CA 1 228582784 228582784 single base substitution G A exon_variant PRAD-CA 1 228582784 228582784 single base substitution G A synonymous_variant Y141Y 423C>T PRAD-CA 1 228582784 228582784 single base substitution G A synonymous_variant Y218Y 654C>T PRAD-CA 1 228582784 228582784 single base substitution G A synonymous_variant Y343Y 1029C>T PRAD-CA 1 228585074 228585074 single base substitution G A exon_variant PRAD-CA 1 228585074 228585074 single base substitution G A intron_variant PRAD-CA 1 228593174 228593174 single base substitution G A 5_prime_UTR_variant PRAD-CA 1 228593174 228593174 single base substitution G A intron_variant PRAD-CA 1 228593174 228593174 single base substitution G A upstream_gene_variant PRAD-UK 1 228582771 228582771 single base substitution C A downstream_gene_variant PRAD-UK 1 228582771 228582771 single base substitution C A exon_variant PRAD-UK 1 228582771 228582771 single base substitution C A missense_variant V146F 436G>T PRAD-UK 1 228582771 228582771 single base substitution C A missense_variant V223F 667G>T PRAD-UK 1 228582771 228582771 single base substitution C A missense_variant V348F 1042G>T PRAD-UK 1 228587198 228587198 single base substitution T C intron_variant PRAD-UK 1 228587198 228587198 single base substitution T C upstream_gene_variant PRAD-UK 1 228588143 228588143 single base substitution G A intron_variant PRAD-UK 1 228588143 228588143 single base substitution G A upstream_gene_variant PRAD-UK 1 228594488 228594488 single base substitution G A 5_prime_UTR_variant PRAD-UK 1 228594488 228594488 single base substitution G A upstream_gene_variant READ-US 1 228589824 228589824 single base substitution C T intron_variant READ-US 1 228589824 228589824 single base substitution C T synonymous_variant Q149Q 447G>A READ-US 1 228589824 228589824 single base substitution C T synonymous_variant Q24Q 72G>A READ-US 1 228589824 228589824 single base substitution C T upstream_gene_variant RECA-EU 1 228580762 228580762 single base substitution C A downstream_gene_variant RECA-EU 1 228583495 228583495 single base substitution T G 3_prime_UTR_variant RECA-EU 1 228583495 228583495 single base substitution T G downstream_gene_variant RECA-EU 1 228583495 228583495 single base substitution T G intron_variant RECA-EU 1 228596425 228596425 single base substitution G T upstream_gene_variant SKCA-BR 1 228576615 228576615 insertion of <=200bp - AAAAG downstream_gene_variant SKCA-BR 1 228578605 228578605 single base substitution T G downstream_gene_variant SKCA-BR 1 228579131 228579131 single base substitution G A downstream_gene_variant SKCA-BR 1 228589722 228589722 single base substitution A C intron_variant SKCA-BR 1 228589722 228589722 single base substitution A C upstream_gene_variant SKCA-BR 1 228589729 228589729 single base substitution A C intron_variant SKCA-BR 1 228589729 228589729 single base substitution A C upstream_gene_variant SKCA-BR 1 228589737 228589737 single base substitution A C intron_variant SKCA-BR 1 228589737 228589737 single base substitution A C upstream_gene_variant SKCA-BR 1 228591350 228591350 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 228591350 228591350 single base substitution G A intron_variant SKCA-BR 1 228591350 228591350 single base substitution G A upstream_gene_variant SKCA-BR 1 228594342 228594342 single base substitution T G 5_prime_UTR_variant SKCA-BR 1 228594342 228594342 single base substitution T G upstream_gene_variant SKCA-BR 1 228598361 228598361 single base substitution A C upstream_gene_variant SKCM-US 1 228582482 228582482 single base substitution G A downstream_gene_variant SKCM-US 1 228582482 228582482 single base substitution G A exon_variant SKCM-US 1 228582482 228582482 single base substitution G A missense_variant P319L 956C>T SKCM-US 1 228582482 228582482 single base substitution G A missense_variant P444L 1331C>T SKCM-US 1 228582509 228582509 single base substitution G A downstream_gene_variant SKCM-US 1 228582509 228582509 single base substitution G A exon_variant SKCM-US 1 228582509 228582509 single base substitution G A missense_variant S310L 929C>T SKCM-US 1 228582509 228582509 single base substitution G A missense_variant S435L 1304C>T SKCM-US 1 228582615 228582615 single base substitution G A downstream_gene_variant SKCM-US 1 228582615 228582615 single base substitution G A exon_variant SKCM-US 1 228582615 228582615 single base substitution G A missense_variant P198S 592C>T SKCM-US 1 228582615 228582615 single base substitution G A missense_variant P275S 823C>T SKCM-US 1 228582615 228582615 single base substitution G A missense_variant P400S 1198C>T SKCM-US 1 228582667 228582667 single base substitution G A downstream_gene_variant SKCM-US 1 228582667 228582667 single base substitution G A exon_variant SKCM-US 1 228582667 228582667 single base substitution G A synonymous_variant F180F 540C>T SKCM-US 1 228582667 228582667 single base substitution G A synonymous_variant F257F 771C>T SKCM-US 1 228582667 228582667 single base substitution G A synonymous_variant F382F 1146C>T SKCM-US 1 228582669 228582669 single base substitution A C downstream_gene_variant SKCM-US 1 228582669 228582669 single base substitution A C exon_variant SKCM-US 1 228582669 228582669 single base substitution A C missense_variant F180V 538T>G SKCM-US 1 228582669 228582669 single base substitution A C missense_variant F257V 769T>G SKCM-US 1 228582669 228582669 single base substitution A C missense_variant F382V 1144T>G SKCM-US 1 228582770 228582770 single base substitution A G downstream_gene_variant SKCM-US 1 228582770 228582770 single base substitution A G exon_variant SKCM-US 1 228582770 228582770 single base substitution A G missense_variant V146A 437T>C SKCM-US 1 228582770 228582770 single base substitution A G missense_variant V223A 668T>C SKCM-US 1 228582770 228582770 single base substitution A G missense_variant V348A 1043T>C SKCM-US 1 228588737 228588737 single base substitution C T exon_variant SKCM-US 1 228588737 228588737 single base substitution C T intron_variant SKCM-US 1 228588737 228588737 single base substitution C T synonymous_variant Q221Q 663G>A SKCM-US 1 228588737 228588737 single base substitution C T synonymous_variant Q96Q 288G>A SKCM-US 1 228588737 228588737 single base substitution C T upstream_gene_variant SKCM-US 1 228588893 228588893 single base substitution C T intron_variant SKCM-US 1 228588893 228588893 single base substitution C T splice_acceptor_variant SKCM-US 1 228588893 228588893 single base substitution C T splice_region_variant SKCM-US 1 228588893 228588893 single base substitution C T upstream_gene_variant SKCM-US 1 228596250 228596250 single base substitution G A upstream_gene_variant SKCM-US 1 228596894 228596894 single base substitution C T upstream_gene_variant SKCM-US 1 228596903 228596903 single base substitution C T upstream_gene_variant STAD-US 1 228582509 228582509 single base substitution G A downstream_gene_variant STAD-US 1 228582509 228582509 single base substitution G A exon_variant STAD-US 1 228582509 228582509 single base substitution G A missense_variant S310L 929C>T STAD-US 1 228582509 228582509 single base substitution G A missense_variant S435L 1304C>T STAD-US 1 228582822 228582822 single base substitution C T downstream_gene_variant STAD-US 1 228582822 228582822 single base substitution C T exon_variant STAD-US 1 228582822 228582822 single base substitution C T missense_variant V129M 385G>A STAD-US 1 228582822 228582822 single base substitution C T missense_variant V206M 616G>A STAD-US 1 228582822 228582822 single base substitution C T missense_variant V331M 991G>A STAD-US 1 228584848 228584848 single base substitution G A exon_variant STAD-US 1 228584848 228584848 single base substitution G A intron_variant STAD-US 1 228584848 228584848 single base substitution G A missense_variant R127C 379C>T STAD-US 1 228584848 228584848 single base substitution G A missense_variant R18C 52C>T STAD-US 1 228584848 228584848 single base substitution G A missense_variant R252C 754C>T STAD-US 1 228584848 228584848 single base substitution G A missense_variant R50C 148C>T STAD-US 1 228596210 228596210 single base substitution G A upstream_gene_variant STAD-US 1 228596398 228596398 single base substitution C T upstream_gene_variant STAD-US 1 228598740 228598740 single base substitution G A upstream_gene_variant STAD-US 1 228598776 228598776 single base substitution C T upstream_gene_variant THCA-SA 1 228588680 228588680 single base substitution A C exon_variant THCA-SA 1 228588680 228588680 single base substitution A C intron_variant THCA-SA 1 228588680 228588680 single base substitution A C synonymous_variant A115A 345T>G THCA-SA 1 228588680 228588680 single base substitution A C synonymous_variant A240A 720T>G THCA-SA 1 228588680 228588680 single base substitution A C upstream_gene_variant UCEC-US 1 228582438 228582438 single base substitution C A downstream_gene_variant UCEC-US 1 228582438 228582438 single base substitution C A exon_variant UCEC-US 1 228582438 228582438 single base substitution C A missense_variant G334C 1000G>T UCEC-US 1 228582438 228582438 single base substitution C A missense_variant G459C 1375G>T UCEC-US 1 228582498 228582498 single base substitution G A downstream_gene_variant UCEC-US 1 228582498 228582498 single base substitution G A exon_variant UCEC-US 1 228582498 228582498 single base substitution G A missense_variant R314W 940C>T UCEC-US 1 228582498 228582498 single base substitution G A missense_variant R439W 1315C>T UCEC-US 1 228582509 228582509 single base substitution G A downstream_gene_variant UCEC-US 1 228582509 228582509 single base substitution G A exon_variant UCEC-US 1 228582509 228582509 single base substitution G A missense_variant S310L 929C>T UCEC-US 1 228582509 228582509 single base substitution G A missense_variant S435L 1304C>T UCEC-US 1 228582687 228582687 single base substitution C T downstream_gene_variant UCEC-US 1 228582687 228582687 single base substitution C T exon_variant UCEC-US 1 228582687 228582687 single base substitution C T missense_variant G174S 520G>A UCEC-US 1 228582687 228582687 single base substitution C T missense_variant G251S 751G>A UCEC-US 1 228582687 228582687 single base substitution C T missense_variant G376S 1126G>A UCEC-US 1 228584651 228584651 single base substitution G A 3_prime_UTR_variant UCEC-US 1 228584651 228584651 single base substitution G A exon_variant UCEC-US 1 228584651 228584651 single base substitution G A stop_gained R161* 481C>T UCEC-US 1 228584651 228584651 single base substitution G A stop_gained R286* 856C>T UCEC-US 1 228584651 228584651 single base substitution G A stop_gained R84* 250C>T UCEC-US 1 228598740 228598740 single base substitution G A upstream_gene_variant UCEC-US 1 228598869 228598869 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand NCI-H727 COSM905173 c.1375G>T p.G459C Substitution - Missense 1:228394737-228394737 - 2334191 COSM323981 c.1404G>C p.Q468H Substitution - Missense 1:228394708-228394708 - LP6007414-DNA_A02 COSM4409501 c.105C>A p.F35L Substitution - Missense 1:228406457-228406457 - CHEWS031 COSM4576997 c.531C>T p.N177N Substitution - coding silent 1:228401168-228401168 - 401 COSM4429563 c.225C>G p.A75A Substitution - coding silent 1:228406337-228406337 - TCGA-EK-A2RA-01 COSM4848357 c.430G>C p.E144Q Substitution - Missense 1:228402140-228402140 - TCGA-EE-A3AG-06 COSM3484847 c.1043T>C p.V348A Substitution - Missense 1:228395069-228395069 - HCC003T COSM5819443 c.820A>G p.R274G Substitution - Missense 1:228396986-228396986 - TCGA-AX-A0J1-01 COSM905176 c.1126G>A p.G376S Substitution - Missense 1:228394986-228394986 - TCGA-D3-A3MR-06 COSM3484850 c.507G>A p.K169K Substitution - coding silent 1:228401192-228401192 - ATL065 COSM5705262 c.983G>T p.G328V Substitution - Missense 1:228395129-228395129 - TCGA-CZ-5465-01 COSM464090 c.1159T>A p.Y387N Substitution - Missense 1:228394953-228394953 - HCT8 COSM1668540 c.983G>A p.G328D Substitution - Missense 1:228395129-228395129 - TCGA-32-2634-01 COSM3400443 c.1178C>T p.A393V Substitution - Missense 1:228394934-228394934 - PD11327a COSM5786114 c.433C>T p.H145Y Substitution - Missense 1:228402137-228402137 - TCGA-OL-A5RW-01 COSM3804253 c.736-10C>G p.? Unknown 1:228397175-228397175 - T3724 COSM4735908 c.1365C>T p.C455C Substitution - coding silent 1:228394747-228394747 - 2293782 COSM4608259 c.735+3G>T p.? Unknown 1:228400961-228400961 - ESCC_34 COSM5628379 c.115T>A p.C39S Substitution - Missense 1:228406447-228406447 - TARGET-30-PASAZJ COSM1288615 c.564G>T p.L188F Substitution - Missense 1:228401135-228401135 - DN12035 COSM5962968 c.148C>A p.P50T Substitution - Missense 1:228406414-228406414 - 105068 COSM96251 c.630G>A p.R210R Substitution - coding silent 1:228401069-228401069 - TCGA-ER-A19E-06 COSM3484848 c.663G>A p.Q221Q Substitution - coding silent 1:228401036-228401036 - TCGA-BR-4368-01 COSM4029273 c.991G>A p.V331M Substitution - Missense 1:228395121-228395121 - 86567 COSM95397 c.1326C>G p.F442L Substitution - Missense 1:228394786-228394786 - ESCC_162 COSM5647784 c.697G>A p.E233K Substitution - Missense 1:228401002-228401002 - LS411 COSM4646434 c.129C>T p.C43C Substitution - coding silent 1:228406433-228406433 - PCSI_0021_Pa_X COSM3377020 c.1021C>T p.R341C Substitution - Missense 1:228395091-228395091 - 2492720 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - SNUH_G47_S1 COSM3689424 c.1170G>A p.S390S Substitution - coding silent 1:228394942-228394942 - pfg008T COSM1639745 c.1247_1248delCT p.S416fs*>53 Deletion - Frameshift 1:228394864-228394865 - PD7219a COSM5775185 c.142G>A p.E48K Substitution - Missense 1:228406420-228406420 - Pat_63_A COSM5845782 c.925G>A p.V309M Substitution - Missense 1:228395187-228395187 - pfg008T COSM1639745 c.1247_1248delCT p.S416fs*>53 Deletion - Frameshift 1:228394864-228394865 - CCC2T COSM3705610 c.1023C>T p.R341R Substitution - coding silent 1:228395089-228395089 - 105243 COSM95396 c.1396G>T p.A466S Substitution - Missense 1:228394716-228394716 - TCGA-BR-8487-01 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - CHC1061T COSM3667472 c.604G>A p.E202K Substitution - Missense 1:228401095-228401095 - HCT-15 COSM1668540 c.983G>A p.G328D Substitution - Missense 1:228395129-228395129 - TCGA-AX-A05Z-01 COSM905177 c.856C>T p.R286* Substitution - Nonsense 1:228396950-228396950 - PD7217a COSM5791863 c.498G>C p.L166F Substitution - Missense 1:228402072-228402072 - ESO-409 COSM1268509 c.1176G>A p.R392R Substitution - coding silent 1:228394936-228394936 - CPCG0260-F1 COSM4880315 c.1029C>T p.Y343Y Substitution - coding silent 1:228395083-228395083 - YUOTHO COSM5380003 c.1317G>T p.R439R Substitution - coding silent 1:228394795-228394795 - PCSI_0528_Pa_P_526 COSM5031723 c.828G>A p.P276P Substitution - coding silent 1:228396978-228396978 - TCGA-RP-A693-06 COSM4895928 c.1144T>G p.F382V Substitution - Missense 1:228394968-228394968 - HCC88T COSM1601855 c.535C>T p.L179L Substitution - coding silent 1:228401164-228401164 - TCGA-DK-A1AC-01 COSM1295978 c.1101G>A p.E367E Substitution - coding silent 1:228395011-228395011 - 0047_CRUK_PC_0047_T1_DNA COSM5421806 c.1042G>T p.V348F Substitution - Missense 1:228395070-228395070 - B59-3 COSM1745475 c.552_553insTT p.L185fs*35 Insertion - Frameshift 1:228401146-228401147 - TCGA-EE-A29E-06 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - TCGA-DK-A2HX-01 COSM1295979 c.459G>A p.A153A Substitution - coding silent 1:228402111-228402111 - TCGA-HF-7132-01 COSM4029274 c.754C>T p.R252C Substitution - Missense 1:228397147-228397147 - C086 COSM5540790 c.1167C>A p.S389S Substitution - coding silent 1:228394945-228394945 - TCGA-BS-A0U7-01 COSM905173 c.1375G>T p.G459C Substitution - Missense 1:228394737-228394737 - ccRCC-35 COSM1664674 c.1205G>T p.R402M Substitution - Missense 1:228394907-228394907 - pfg007T COSM1639744 c.1263C>G p.T421T Substitution - coding silent 1:228394849-228394849 - TCGA-D8-A141-01 COSM425537 c.982G>A p.G328S Substitution - Missense 1:228395130-228395130 - YUOTHO COSM5380004 c.1024C>T p.H342Y Substitution - Missense 1:228395088-228395088 - AOCS-139-1-5 COSM3943554 c.394G>T p.A132S Substitution - Missense 1:228406168-228406168 - T3064 COSM4735909 c.1147C>A p.L383M Substitution - Missense 1:228394965-228394965 - LN229 COSM1997069 c.1069G>A p.G357R Substitution - Missense 1:228395043-228395043 - SNUH_G26_S1 COSM3689424 c.1170G>A p.S390S Substitution - coding silent 1:228394942-228394942 - TCGA-AY-6386-01 COSM3750969 c.720T>G p.A240A Substitution - coding silent 1:228400979-228400979 - TCGA-AX-A0J0-01 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - KM12 COSM1997080 c.765G>A p.Q255Q Substitution - coding silent 1:228397041-228397041 - TCGA-AD-6895-01 COSM5130153 c.634C>T p.R212W Substitution - Missense 1:228401065-228401065 - AOCS-116-1-3 COSM3943552 c.813C>T p.T271T Substitution - coding silent 1:228396993-228396993 - 8057473 COSM1997067 c.1086C>T p.N362N Substitution - coding silent 1:228395026-228395026 - ESO-157 COSM1268508 c.1370C>T p.P457L Substitution - Missense 1:228394742-228394742 - TCGA-AP-A051-01 COSM905174 c.1315C>T p.R439W Substitution - Missense 1:228394797-228394797 - 547 COSM5612940 c.835G>A p.V279I Substitution - Missense 1:228396971-228396971 - TCGA-EE-A2GC-06 COSM3484846 c.1198C>T p.P400S Substitution - Missense 1:228394914-228394914 - LAU165 COSM235508 c.528G>A p.Q176Q Substitution - coding silent 1:228401171-228401171 - TCGA-34-5928-01 COSM679226 c.163G>A p.E55K Substitution - Missense 1:228406399-228406399 - TCGA-A4-8630-01 COSM3984807 c.812C>A p.T271N Substitution - Missense 1:228396994-228396994 - HCC88 COSM1601855 c.535C>T p.L179L Substitution - coding silent 1:228401164-228401164 - RKO COSM1997078 c.812C>T p.T271I Substitution - Missense 1:228396994-228396994 - CCC2 COSM3705610 c.1023C>T p.R341R Substitution - coding silent 1:228395089-228395089 - Gp2D COSM1997071 c.1025A>G p.H342R Substitution - Missense 1:228395087-228395087 - 585208 COSM326752 c.1237G>T p.G413* Substitution - Nonsense 1:228394875-228394875 - 8068044 COSM4388057 c.523C>T p.R175W Substitution - Missense 1:228401176-228401176 - TCGA-DY-A1DD-01 COSM1560206 c.447G>A p.Q149Q Substitution - coding silent 1:228402123-228402123 - PD4596a COSM165122 c.1063G>A p.A355T Substitution - Missense 1:228395049-228395049 - 587350 COSM1230290 c.599T>C p.L200P Substitution - Missense 1:228401100-228401100 - TCGA-FR-A44A-06 COSM3864709 c.1146C>T p.F382F Substitution - coding silent 1:228394966-228394966 - LC_C21 COSM1185780 c.895G>A p.E299K Substitution - Missense 1:228395217-228395217 - 2492721 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - TCGA-AA-3966-01 COSM297210 c.937delG p.D313fs*51 Deletion - Frameshift 1:228395175-228395175 - CHC1061T COSM3667472 c.604G>A p.E202K Substitution - Missense 1:228401095-228401095 - DLD1 COSM1668540 c.983G>A p.G328D Substitution - Missense 1:228395129-228395129 - S02279 COSM5683445 c.216T>G p.A72A Substitution - coding silent 1:228406346-228406346 - 86326 COSM95679 c.829G>T p.G277* Substitution - Nonsense 1:228396977-228396977 - HCT15 COSM1668540 c.983G>A p.G328D Substitution - Missense 1:228395129-228395129 - TCGA-EK-A3GN-01 COSM4854611 c.642C>T p.G214G Substitution - coding silent 1:228401057-228401057 - PD8611a COSM5775369 c.1042G>C p.V348L Substitution - Missense 1:228395070-228395070 - TCGA-AM-5821-01 COSM3689424 c.1170G>A p.S390S Substitution - coding silent 1:228394942-228394942 - S01366 COSM316130 c.657C>T p.G219G Substitution - coding silent 1:228401042-228401042 - TCGA-EE-A29M-06 COSM3484845 c.1331C>T p.P444L Substitution - Missense 1:228394781-228394781 - LUAD-E01317 COSM403611 c.1328C>T p.S443L Substitution - Missense 1:228394784-228394784 - TCGA-63-6202-01 COSM95679 c.829G>T p.G277* Substitution - Nonsense 1:228396977-228396977 - Gp5D COSM1997071 c.1025A>G p.H342R Substitution - Missense 1:228395087-228395087 - TCGA-D1-A103-01 COSM905176 c.1126G>A p.G376S Substitution - Missense 1:228394986-228394986 - PTC-6C COSM4143483 c.78G>T p.P26P Substitution - coding silent 1:228406484-228406484 - BD114T COSM5502406 c.935G>C p.G312A Substitution - Missense 1:228395177-228395177 - 2492723 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - TCGA-CA-6716-01 COSM3750969 c.720T>G p.A240A Substitution - coding silent 1:228400979-228400979 - HCA7 COSM4629930 c.1317G>A p.R439R Substitution - coding silent 1:228394795-228394795 - 2492722 COSM905175 c.1304C>T p.S435L Substitution - Missense 1:228394808-228394808 - T3091 COSM4735910 c.629G>A p.R210Q Substitution - Missense 1:228401070-228401070 - TCGA-21-5787-01 COSM679227 c.1052G>T p.R351L Substitution - Missense 1:228395060-228395060 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.13543 1q42.13 607868

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AC IntronicInsertion . c.859+267_859+268insGT 1 228584380 BRCA AG - Frameshift p.S416Ffs*117 c.1247_1248delCT 1 228582565 STAD A G Missense p.V348A c.1043T>C 1 228582770 CM A T Missense p.Y387N c.1159T>A 1 228582654 RCCC C A Missense p.G277V c.830G>T 1 228584677 LUAD C A Missense p.G459C c.1375G>T 1 228582438 UCEC C A Missense p.L188F c.564G>T 1 228588836 NB C A Missense p.R351L c.1052G>T 1 228582761 LUSC C A Nonsense p.G277* c.829G>T 1 228584678 LUSC C A Nonsense p.G413* c.1237G>T 1 228582576 SCLC C G CdsStopSNV . c.1404G>C 1 228582409 SCLC C G IntronicSNV . c.736-156G>C 1 228585022 BRCA C T Missense p.A355T c.1063G>A 1 228582750 BRCA C T Missense p.C164Y c.491G>A 1 228589780 LUAD C T Missense p.E13K c.37G>A 1 228594226 CM C T Missense p.E55K c.163G>A 1 228594100 LUSC C T Missense p.G328S c.982G>A 1 228582831 BRCA C T Missense p.G384R c.1150G>A 1 228582663 CM C T Missense p.V331M c.991G>A 1 228582822 STAD C T Synonymous p.A153A c.459G>A 1 228589812 BLCA C T Synonymous p.K169K c.507G>A 1 228588893 CM C T Synonymous p.Q221Q c.663G>A 1 228588737 CM C T Synonymous p.Q255Q c.765G>A 1 228584742 CM C T Synonymous p.R392R c.1176G>A 1 228582637 ESCA G A Missense p.A393V c.1178C>T 1 228582635 GBM G A Missense p.P400S c.1198C>T 1 228582615 CM G A Missense p.P444L c.1331C>T 1 228582482 CM G A Missense p.P457L c.1370C>T 1 228582443 ESCA G A Missense p.P467S c.1399C>T 1 228582414 CM G A Synonymous p.F23F c.69C>T 1 228594194 CM G A Synonymous p.G219G c.657C>T 1 228588743 SCLC G A Synonymous p.L208L c.622C>T 1 228588778 STAD G A Synonymous p.S372S c.1116C>T 1 228582697 STAD G A Synonymous p.S461S c.1383C>T 1 228582430 CM G C Synonymous p.T421T c.1263C>G 1 228582550 STAD