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 7 151042482 151042482 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr7:151042482G>T c.47G>T c.(46-48)aGg>aTg p.R16M BLCA 7 151042520 151042520 + Missense_Mutation SNP G G C TCGA-K4-A4AC-01A-21D-A26M-08 TCGA-K4-A4AC-10A-01D-A26K-08 g.chr7:151042520G>C c.85G>C c.(85-87)Gat>Cat p.D29H BLCA 7 151049920 151049920 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr7:151049920C>G c.367C>G c.(367-369)Caa>Gaa p.Q123E BLCA 7 151073738 151073738 + Missense_Mutation SNP G G C TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr7:151073738G>C c.1510G>C c.(1510-1512)Gat>Cat p.D504H BLCA 7 151073831 151073831 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr7:151073831C>A c.1603C>A c.(1603-1605)Ccc>Acc p.P535T BRCA 7 151052933 151052933 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr7:151052933G>A c.495G>A c.(493-495)gcG>gcA p.A165A BRCA 7 151064964 151064964 + Missense_Mutation SNP G G C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 g.chr7:151064964G>C c.1005G>C c.(1003-1005)gaG>gaC p.E335D BRCA 7 151074240 151074240 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr7:151074240G>C c.1777G>C c.(1777-1779)Gat>Cat p.D593H CESC 7 151053226 151053226 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:151053226T>G c.611T>G c.(610-612)gTg>gGg p.V204G CHOL 7 151072981 151072981 + Silent SNP T T A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr7:151072981T>A c.1443T>A c.(1441-1443)ccT>ccA p.P481P COAD 7 151046311 151046311 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:151046311A>G c.270A>G c.(268-270)ccA>ccG p.P90P COAD 7 151052876 151052876 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:151052876C>T c.438C>T c.(436-438)ggC>ggT p.G146G COAD 7 151052897 151052897 + Silent SNP G G A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr7:151052897G>A c.459G>A c.(457-459)gcG>gcA p.A153A COAD 7 151057252 151057252 + Missense_Mutation SNP A A T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr7:151057252A>T c.719A>T c.(718-720)cAt>cTt p.H240L COAD 7 151057301 151057301 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr7:151057301G>A c.768G>A c.(766-768)ttG>ttA p.L256L COAD 7 151064064 151064064 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:151064064C>T c.840C>T c.(838-840)taC>taT p.Y280Y COAD 7 151064098 151064098 + Missense_Mutation SNP T T G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:151064098T>G c.874T>G c.(874-876)Ttc>Gtc p.F292V COAD 7 151065005 151065005 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:151065005G>A c.1046G>A c.(1045-1047)cGa>cAa p.R349Q COAD 7 151065005 151065005 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:151065005G>A c.1046G>A c.(1045-1047)cGa>cAa p.R349Q COAD 7 151065858 151065858 + Nonsense_Mutation SNP C C A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr7:151065858C>A c.1133C>A c.(1132-1134)tCa>tAa p.S378* COAD 7 151071275 151071275 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:151071275C>T c.1341C>T c.(1339-1341)caC>caT p.H447H COAD 7 151073788 151073788 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr7:151073788G>A c.1560G>A c.(1558-1560)caG>caA p.Q520Q COAD 7 151074175 151074175 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:151074175C>T c.1712C>T c.(1711-1713)gCc>gTc p.A571V COADREAD 7 151046311 151046311 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:151046311A>G c.270A>G c.(268-270)ccA>ccG p.P90P COADREAD 7 151052876 151052876 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:151052876C>T c.438C>T c.(436-438)ggC>ggT p.G146G COADREAD 7 151052897 151052897 + Silent SNP G G A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr7:151052897G>A c.459G>A c.(457-459)gcG>gcA p.A153A COADREAD 7 151057252 151057252 + Missense_Mutation SNP A A T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr7:151057252A>T c.719A>T c.(718-720)cAt>cTt p.H240L COADREAD 7 151057301 151057301 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr7:151057301G>A c.768G>A c.(766-768)ttG>ttA p.L256L COADREAD 7 151064064 151064064 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:151064064C>T c.840C>T c.(838-840)taC>taT p.Y280Y COADREAD 7 151064098 151064098 + Missense_Mutation SNP T T G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:151064098T>G c.874T>G c.(874-876)Ttc>Gtc p.F292V COADREAD 7 151064178 151064178 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:151064178C>T c.954C>T c.(952-954)taC>taT p.Y318Y COADREAD 7 151065005 151065005 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:151065005G>A c.1046G>A c.(1045-1047)cGa>cAa p.R349Q COADREAD 7 151065005 151065005 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:151065005G>A c.1046G>A c.(1045-1047)cGa>cAa p.R349Q COADREAD 7 151065858 151065858 + Nonsense_Mutation SNP C C A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr7:151065858C>A c.1133C>A c.(1132-1134)tCa>tAa p.S378* COADREAD 7 151065947 151065947 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:151065947G>A c.1222G>A c.(1222-1224)Gcc>Acc p.A408T COADREAD 7 151071275 151071275 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:151071275C>T c.1341C>T c.(1339-1341)caC>caT p.H447H COADREAD 7 151073788 151073788 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr7:151073788G>A c.1560G>A c.(1558-1560)caG>caA p.Q520Q COADREAD 7 151074175 151074175 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:151074175C>T c.1712C>T c.(1711-1713)gCc>gTc p.A571V ESCA 7 151042544 151042544 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr7:151042544G>A c.109G>A c.(109-111)Gca>Aca p.A37T ESCA 7 151046320 151046320 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr7:151046320delA c.279delA c.(277-279)ctafs p.L93fs ESCA 7 151057290 151057290 + Nonsense_Mutation SNP G G T TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr7:151057290G>T c.757G>T c.(757-759)Gga>Tga p.G253* ESCA 7 151065005 151065005 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 g.chr7:151065005G>A c.1046G>A c.(1045-1047)cGa>cAa p.R349Q ESCA 7 151065971 151065971 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr7:151065971G>T c.1246G>T c.(1246-1248)Gag>Tag p.E416* ESCA 7 151074157 151074157 + Frame_Shift_Del DEL A A - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr7:151074157delA c.1694delA c.(1693-1695)gaafs p.E565fs GBM 7 151065966 151065966 + Missense_Mutation SNP G G A TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr7:151065966G>A c.1241G>A c.(1240-1242)cGc>cAc p.R414H GBMLGG 7 151065934 151065934 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:151065934C>T c.1209C>T c.(1207-1209)aaC>aaT p.N403N GBMLGG 7 151065966 151065966 + Missense_Mutation SNP G G A TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr7:151065966G>A c.1241G>A c.(1240-1242)cGc>cAc p.R414H GBMLGG 7 151072988 151072988 + Missense_Mutation SNP G G A TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr7:151072988G>A c.1450G>A c.(1450-1452)Gac>Aac p.D484N HNSC 7 151073852 151073852 + Missense_Mutation SNP G G C TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr7:151073852G>C c.1624G>C c.(1624-1626)Gaa>Caa p.E542Q KIPAN 7 151042440 151042440 + Missense_Mutation SNP C C A TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr7:151042440C>A c.5C>A c.(4-6)gCa>gAa p.A2E KIRC 7 151042440 151042440 + Missense_Mutation SNP C C A TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr7:151042440C>A c.5C>A c.(4-6)gCa>gAa p.A2E LGG 7 151065934 151065934 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:151065934C>T c.1209C>T c.(1207-1209)aaC>aaT p.N403N LGG 7 151072988 151072988 + Missense_Mutation SNP G G A TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr7:151072988G>A c.1450G>A c.(1450-1452)Gac>Aac p.D484N LIHC 7 151052912 151052912 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr7:151052912delA c.474delA c.(472-474)ctafs p.L158fs LUAD 7 151042434 151042434 + 5'UTR SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr7:151042434G>T LUAD 7 151046189 151046189 + Missense_Mutation SNP G G C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr7:151046189G>C c.148G>C c.(148-150)Gaa>Caa p.E50Q LUAD 7 151064199 151064199 + Frame_Shift_Del DEL G G - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr7:151064199delG c.975delG c.(973-975)ctgfs p.L325fs LUAD 7 151074177 151074177 + Missense_Mutation SNP G G A TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr7:151074177G>A c.1714G>A c.(1714-1716)Gtc>Atc p.V572I PAAD 7 151072988 151072988 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 g.chr7:151072988G>A c.1450G>A c.(1450-1452)Gac>Aac p.D484N PRAD 7 151046260 151046260 + Silent SNP A A T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 g.chr7:151046260A>T c.219A>T c.(217-219)ggA>ggT p.G73G READ 7 151064178 151064178 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:151064178C>T c.954C>T c.(952-954)taC>taT p.Y318Y READ 7 151065947 151065947 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:151065947G>A c.1222G>A c.(1222-1224)Gcc>Acc p.A408T SKCM 7 151046258 151046258 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:151046258G>A c.217G>A c.(217-219)Gga>Aga p.G73R SKCM 7 151046259 151046259 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:151046259G>A c.218G>A c.(217-219)gGa>gAa p.G73E SKCM 7 151046271 151046271 + Missense_Mutation SNP A A G TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr7:151046271A>G c.230A>G c.(229-231)tAt>tGt p.Y77C SKCM 7 151052945 151052945 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr7:151052945C>T c.507C>T c.(505-507)ttC>ttT p.F169F SKCM 7 151053246 151053246 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr7:151053246C>T c.631C>T c.(631-633)Ccg>Tcg p.P211S SKCM 7 151065825 151065825 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr7:151065825G>A c.1100G>A c.(1099-1101)cGt>cAt p.R367H SKCM 7 151072975 151072975 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr7:151072975C>T c.1437C>T c.(1435-1437)tcC>tcT p.S479S SKCM 7 151073817 151073817 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:151073817G>A c.1589G>A c.(1588-1590)gGa>gAa p.G530E SKCM 7 151073881 151073881 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:151073881C>T c.1653C>T c.(1651-1653)tcC>tcT p.S551S SKCM 7 151074236 151074236 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr7:151074236G>A c.1773G>A c.(1771-1773)ctG>ctA p.L591L

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 7 151042482 151042482 single base substitution G T exon_variant BLCA-US 7 151042482 151042482 single base substitution G T missense_variant R16M 47G>T BLCA-US 7 151042482 151042482 single base substitution G T missense_variant R40M 119G>T BLCA-US 7 151073831 151073831 single base substitution C A downstream_gene_variant BLCA-US 7 151073831 151073831 single base substitution C A missense_variant P121T 361C>A BLCA-US 7 151073831 151073831 single base substitution C A missense_variant P521T 1561C>A BLCA-US 7 151073831 151073831 single base substitution C A missense_variant P535T 1603C>A BLCA-US 7 151073831 151073831 single base substitution C A missense_variant P545T 1633C>A BLCA-US 7 151073831 151073831 single base substitution C A missense_variant P559T 1675C>A BOCA-FR 7 151077505 151077505 single base substitution G A downstream_gene_variant BRCA-EU 7 151034215 151034215 single base substitution G A upstream_gene_variant BRCA-EU 7 151035323 151035323 single base substitution A G upstream_gene_variant BRCA-EU 7 151035410 151035410 single base substitution T G upstream_gene_variant BRCA-EU 7 151035829 151035829 single base substitution G A upstream_gene_variant BRCA-EU 7 151036188 151036188 single base substitution C A upstream_gene_variant BRCA-EU 7 151037276 151037276 single base substitution T C upstream_gene_variant BRCA-EU 7 151038240 151038240 single base substitution G C upstream_gene_variant BRCA-EU 7 151038819 151038819 insertion of <=200bp - GCGGCGGCC 5_prime_UTR_variant BRCA-EU 7 151038819 151038819 insertion of <=200bp - GCGGCGGCC upstream_gene_variant BRCA-EU 7 151042196 151042196 single base substitution T C intron_variant BRCA-EU 7 151042196 151042196 single base substitution T C upstream_gene_variant BRCA-EU 7 151042615 151042615 single base substitution C G intron_variant BRCA-EU 7 151042994 151043000 deletion of <=200bp TAGGTTT - intron_variant BRCA-EU 7 151044553 151044553 deletion of <=200bp T - intron_variant BRCA-EU 7 151044553 151044553 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 151045718 151045718 single base substitution G C intron_variant BRCA-EU 7 151045718 151045718 single base substitution G C upstream_gene_variant BRCA-EU 7 151046531 151046532 deletion of <=200bp GG - intron_variant BRCA-EU 7 151046531 151046532 deletion of <=200bp GG - upstream_gene_variant BRCA-EU 7 151047494 151047494 single base substitution G C intron_variant BRCA-EU 7 151047494 151047494 single base substitution G C upstream_gene_variant BRCA-EU 7 151049706 151049706 single base substitution T A intron_variant BRCA-EU 7 151050159 151050159 single base substitution T C intron_variant BRCA-EU 7 151050185 151050185 single base substitution C T intron_variant BRCA-EU 7 151051600 151051600 single base substitution C A intron_variant BRCA-EU 7 151053316 151053328 deletion of <=200bp CTATGAGAAATGT - downstream_gene_variant BRCA-EU 7 151053316 151053328 deletion of <=200bp CTATGAGAAATGT - splice_region_variant BRCA-EU 7 151053316 151053328 deletion of <=200bp CTATGAGAAATGT - upstream_gene_variant BRCA-EU 7 151053978 151053978 single base substitution T C downstream_gene_variant BRCA-EU 7 151053978 151053978 single base substitution T C intron_variant BRCA-EU 7 151053978 151053978 single base substitution T C upstream_gene_variant BRCA-EU 7 151055069 151055069 single base substitution T G downstream_gene_variant BRCA-EU 7 151055069 151055069 single base substitution T G intron_variant BRCA-EU 7 151055069 151055069 single base substitution T G upstream_gene_variant BRCA-EU 7 151057239 151057239 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 151057239 151057239 single base substitution G C downstream_gene_variant BRCA-EU 7 151057239 151057239 single base substitution G C exon_variant BRCA-EU 7 151057239 151057239 single base substitution G C missense_variant A236P 706G>C BRCA-EU 7 151057239 151057239 single base substitution G C missense_variant A260P 778G>C BRCA-EU 7 151057735 151057735 single base substitution C A 3_prime_UTR_variant BRCA-EU 7 151057735 151057735 single base substitution C A downstream_gene_variant BRCA-EU 7 151057735 151057735 single base substitution C A intron_variant BRCA-EU 7 151060917 151060917 single base substitution G A downstream_gene_variant BRCA-EU 7 151060917 151060917 single base substitution G A intron_variant BRCA-EU 7 151060917 151060917 single base substitution G A upstream_gene_variant BRCA-EU 7 151061326 151061326 single base substitution C T downstream_gene_variant BRCA-EU 7 151061326 151061326 single base substitution C T intron_variant BRCA-EU 7 151061326 151061326 single base substitution C T upstream_gene_variant BRCA-EU 7 151061766 151061766 single base substitution A G downstream_gene_variant BRCA-EU 7 151061766 151061766 single base substitution A G intron_variant BRCA-EU 7 151061766 151061766 single base substitution A G upstream_gene_variant BRCA-EU 7 151063461 151063461 single base substitution G C intron_variant BRCA-EU 7 151063461 151063461 single base substitution G C upstream_gene_variant BRCA-EU 7 151065066 151065066 single base substitution A G intron_variant BRCA-EU 7 151065066 151065066 single base substitution A G upstream_gene_variant BRCA-EU 7 151066703 151066703 single base substitution G A downstream_gene_variant BRCA-EU 7 151066703 151066703 single base substitution G A intron_variant BRCA-EU 7 151069630 151069630 single base substitution A G downstream_gene_variant BRCA-EU 7 151069630 151069630 single base substitution A G intron_variant BRCA-EU 7 151069853 151069853 single base substitution G T downstream_gene_variant BRCA-EU 7 151069853 151069853 single base substitution G T intron_variant BRCA-EU 7 151070530 151070530 single base substitution C A downstream_gene_variant BRCA-EU 7 151070530 151070530 single base substitution C A intron_variant BRCA-EU 7 151071042 151071042 single base substitution G A downstream_gene_variant BRCA-EU 7 151071042 151071042 single base substitution G A intron_variant BRCA-EU 7 151074308 151074308 single base substitution C G downstream_gene_variant BRCA-EU 7 151074308 151074308 single base substitution C G missense_variant N201K 603C>G BRCA-EU 7 151074308 151074308 single base substitution C G missense_variant N601K 1803C>G BRCA-EU 7 151074308 151074308 single base substitution C G missense_variant N615K 1845C>G BRCA-EU 7 151074308 151074308 single base substitution C G missense_variant N625K 1875C>G BRCA-EU 7 151074308 151074308 single base substitution C G missense_variant N639K 1917C>G BRCA-EU 7 151074412 151074412 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 151074412 151074412 single base substitution G C downstream_gene_variant BRCA-EU 7 151074607 151074607 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 151074607 151074607 single base substitution G T downstream_gene_variant BRCA-EU 7 151074990 151074990 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 151074990 151074990 single base substitution C T downstream_gene_variant BRCA-EU 7 151075750 151075750 single base substitution G T downstream_gene_variant BRCA-EU 7 151076188 151076188 single base substitution G C downstream_gene_variant BRCA-EU 7 151076503 151076503 single base substitution C A downstream_gene_variant BRCA-EU 7 151076908 151076908 single base substitution C G downstream_gene_variant BRCA-EU 7 151077175 151077175 single base substitution C A downstream_gene_variant BRCA-EU 7 151077296 151077296 single base substitution G A downstream_gene_variant BRCA-EU 7 151077484 151077484 single base substitution G C downstream_gene_variant BRCA-EU 7 151079845 151079845 single base substitution T G downstream_gene_variant BRCA-FR 7 151042196 151042196 single base substitution T C intron_variant BRCA-FR 7 151042196 151042196 single base substitution T C upstream_gene_variant BRCA-FR 7 151053978 151053978 single base substitution T C downstream_gene_variant BRCA-FR 7 151053978 151053978 single base substitution T C intron_variant BRCA-FR 7 151053978 151053978 single base substitution T C upstream_gene_variant BRCA-FR 7 151061326 151061326 single base substitution C T downstream_gene_variant BRCA-FR 7 151061326 151061326 single base substitution C T intron_variant BRCA-FR 7 151061326 151061326 single base substitution C T upstream_gene_variant BRCA-FR 7 151069630 151069630 single base substitution A G downstream_gene_variant BRCA-FR 7 151069630 151069630 single base substitution A G intron_variant BRCA-FR 7 151074607 151074607 single base substitution G T 3_prime_UTR_variant BRCA-FR 7 151074607 151074607 single base substitution G T downstream_gene_variant BRCA-FR 7 151079103 151079103 single base substitution T A downstream_gene_variant BRCA-FR 7 151080105 151080105 single base substitution C T downstream_gene_variant BRCA-UK 7 151074412 151074412 single base substitution G C 3_prime_UTR_variant BRCA-UK 7 151074412 151074412 single base substitution G C downstream_gene_variant BRCA-US 7 151049231 151049231 single base substitution C T exon_variant BRCA-US 7 151049231 151049231 single base substitution C T intron_variant BRCA-US 7 151049231 151049231 single base substitution C T upstream_gene_variant BRCA-US 7 151052933 151052933 single base substitution G A 3_prime_UTR_variant BRCA-US 7 151052933 151052933 single base substitution G A downstream_gene_variant BRCA-US 7 151052933 151052933 single base substitution G A exon_variant BRCA-US 7 151052933 151052933 single base substitution G A synonymous_variant A165A 495G>A BRCA-US 7 151052933 151052933 single base substitution G A synonymous_variant A189A 567G>A BRCA-US 7 151052933 151052933 single base substitution G A upstream_gene_variant BRCA-US 7 151064964 151064964 single base substitution G C exon_variant BRCA-US 7 151064964 151064964 single base substitution G C missense_variant E335D 1005G>C BRCA-US 7 151064964 151064964 single base substitution G C missense_variant E359D 1077G>C BRCA-US 7 151064964 151064964 single base substitution G C upstream_gene_variant BRCA-US 7 151071305 151071305 single base substitution C T intron_variant BRCA-US 7 151071305 151071305 single base substitution C T synonymous_variant S457S 1371C>T BRCA-US 7 151071305 151071305 single base substitution C T synonymous_variant S481S 1443C>T BRCA-US 7 151071305 151071305 single base substitution C T synonymous_variant S60S 180C>T BRCA-US 7 151074240 151074240 single base substitution G C downstream_gene_variant BRCA-US 7 151074240 151074240 single base substitution G C missense_variant D179H 535G>C BRCA-US 7 151074240 151074240 single base substitution G C missense_variant D579H 1735G>C BRCA-US 7 151074240 151074240 single base substitution G C missense_variant D593H 1777G>C BRCA-US 7 151074240 151074240 single base substitution G C missense_variant D603H 1807G>C BRCA-US 7 151074240 151074240 single base substitution G C missense_variant D617H 1849G>C BTCA-JP 7 151038835 151038835 single base substitution G A 5_prime_UTR_variant BTCA-JP 7 151038835 151038835 single base substitution G A upstream_gene_variant BTCA-JP 7 151046320 151046320 deletion of <=200bp A - exon_variant BTCA-JP 7 151046320 151046320 deletion of <=200bp A - frameshift_variant L117 BTCA-JP 7 151046320 151046320 deletion of <=200bp A - frameshift_variant L93 BTCA-JP 7 151046320 151046320 deletion of <=200bp A - upstream_gene_variant BTCA-JP 7 151049315 151049315 single base substitution C T intron_variant BTCA-JP 7 151049315 151049315 single base substitution C T upstream_gene_variant BTCA-JP 7 151053019 151053019 single base substitution A T 3_prime_UTR_variant BTCA-JP 7 151053019 151053019 single base substitution A T downstream_gene_variant BTCA-JP 7 151053019 151053019 single base substitution A T exon_variant BTCA-JP 7 151053019 151053019 single base substitution A T missense_variant E194V 581A>T BTCA-JP 7 151053019 151053019 single base substitution A T missense_variant E218V 653A>T BTCA-JP 7 151053019 151053019 single base substitution A T upstream_gene_variant BTCA-JP 7 151064066 151064066 single base substitution C T exon_variant BTCA-JP 7 151064066 151064066 single base substitution C T missense_variant A281V 842C>T BTCA-JP 7 151064066 151064066 single base substitution C T missense_variant A305V 914C>T BTCA-JP 7 151064066 151064066 single base substitution C T upstream_gene_variant BTCA-JP 7 151065884 151065884 single base substitution G T exon_variant BTCA-JP 7 151065884 151065884 single base substitution G T missense_variant G22W 64G>T BTCA-JP 7 151065884 151065884 single base substitution G T missense_variant G387W 1159G>T BTCA-JP 7 151065884 151065884 single base substitution G T missense_variant G411W 1231G>T BTCA-JP 7 151065884 151065884 single base substitution G T upstream_gene_variant BTCA-JP 7 151065943 151065943 single base substitution T C downstream_gene_variant BTCA-JP 7 151065943 151065943 single base substitution T C exon_variant BTCA-JP 7 151065943 151065943 single base substitution T C synonymous_variant H406H 1218T>C BTCA-JP 7 151065943 151065943 single base substitution T C synonymous_variant H41H 123T>C BTCA-JP 7 151065943 151065943 single base substitution T C synonymous_variant H430H 1290T>C BTCA-JP 7 151065943 151065943 single base substitution T C synonymous_variant H9H 27T>C BTCA-JP 7 151073697 151073697 single base substitution G A downstream_gene_variant BTCA-JP 7 151073697 151073697 single base substitution G A intron_variant BTCA-JP 7 151073847 151073847 single base substitution C T downstream_gene_variant BTCA-JP 7 151073847 151073847 single base substitution C T missense_variant S126L 377C>T BTCA-JP 7 151073847 151073847 single base substitution C T missense_variant S526L 1577C>T BTCA-JP 7 151073847 151073847 single base substitution C T missense_variant S540L 1619C>T BTCA-JP 7 151073847 151073847 single base substitution C T missense_variant S550L 1649C>T BTCA-JP 7 151073847 151073847 single base substitution C T missense_variant S564L 1691C>T BTCA-JP 7 151074012 151074012 single base substitution C T downstream_gene_variant BTCA-JP 7 151074012 151074012 single base substitution C T intron_variant CESC-US 7 151053226 151053226 single base substitution T G 3_prime_UTR_variant CESC-US 7 151053226 151053226 single base substitution T G downstream_gene_variant CESC-US 7 151053226 151053226 single base substitution T G exon_variant CESC-US 7 151053226 151053226 single base substitution T G missense_variant V204G 611T>G CESC-US 7 151053226 151053226 single base substitution T G missense_variant V228G 683T>G CESC-US 7 151053226 151053226 single base substitution T G upstream_gene_variant CESC-US 7 151074056 151074056 single base substitution G C downstream_gene_variant CESC-US 7 151074056 151074056 single base substitution G C intron_variant CLLE-ES 7 151053078 151053078 single base substitution G T downstream_gene_variant CLLE-ES 7 151053078 151053078 single base substitution G T intron_variant CLLE-ES 7 151053078 151053078 single base substitution G T upstream_gene_variant CLLE-ES 7 151079139 151079139 single base substitution A T downstream_gene_variant COAD-US 7 151052876 151052876 single base substitution C T 3_prime_UTR_variant COAD-US 7 151052876 151052876 single base substitution C T exon_variant COAD-US 7 151052876 151052876 single base substitution C T synonymous_variant G146G 438C>T COAD-US 7 151052876 151052876 single base substitution C T synonymous_variant G170G 510C>T COAD-US 7 151052876 151052876 single base substitution C T upstream_gene_variant COAD-US 7 151057252 151057252 single base substitution A T 3_prime_UTR_variant COAD-US 7 151057252 151057252 single base substitution A T downstream_gene_variant COAD-US 7 151057252 151057252 single base substitution A T exon_variant COAD-US 7 151057252 151057252 single base substitution A T missense_variant H240L 719A>T COAD-US 7 151057252 151057252 single base substitution A T missense_variant H264L 791A>T COAD-US 7 151057301 151057301 single base substitution G A 3_prime_UTR_variant COAD-US 7 151057301 151057301 single base substitution G A downstream_gene_variant COAD-US 7 151057301 151057301 single base substitution G A exon_variant COAD-US 7 151057301 151057301 single base substitution G A synonymous_variant L256L 768G>A COAD-US 7 151057301 151057301 single base substitution G A synonymous_variant L280L 840G>A COAD-US 7 151064064 151064064 single base substitution C T exon_variant COAD-US 7 151064064 151064064 single base substitution C T synonymous_variant Y280Y 840C>T COAD-US 7 151064064 151064064 single base substitution C T synonymous_variant Y304Y 912C>T COAD-US 7 151064064 151064064 single base substitution C T upstream_gene_variant COAD-US 7 151065858 151065858 single base substitution C A exon_variant COAD-US 7 151065858 151065858 single base substitution C A stop_gained S13* 38C>A COAD-US 7 151065858 151065858 single base substitution C A stop_gained S378* 1133C>A COAD-US 7 151065858 151065858 single base substitution C A stop_gained S402* 1205C>A COAD-US 7 151065858 151065858 single base substitution C A upstream_gene_variant COAD-US 7 151073782 151073782 single base substitution C T downstream_gene_variant COAD-US 7 151073782 151073782 single base substitution C T synonymous_variant N104N 312C>T COAD-US 7 151073782 151073782 single base substitution C T synonymous_variant N504N 1512C>T COAD-US 7 151073782 151073782 single base substitution C T synonymous_variant N518N 1554C>T COAD-US 7 151073782 151073782 single base substitution C T synonymous_variant N528N 1584C>T COAD-US 7 151073782 151073782 single base substitution C T synonymous_variant N542N 1626C>T COAD-US 7 151073788 151073788 single base substitution G A downstream_gene_variant COAD-US 7 151073788 151073788 single base substitution G A synonymous_variant Q106Q 318G>A COAD-US 7 151073788 151073788 single base substitution G A synonymous_variant Q506Q 1518G>A COAD-US 7 151073788 151073788 single base substitution G A synonymous_variant Q520Q 1560G>A COAD-US 7 151073788 151073788 single base substitution G A synonymous_variant Q530Q 1590G>A COAD-US 7 151073788 151073788 single base substitution G A synonymous_variant Q544Q 1632G>A COAD-US 7 151078735 151078735 single base substitution A G downstream_gene_variant COCA-CN 7 151038923 151038923 single base substitution C T 5_prime_UTR_variant COCA-CN 7 151038923 151038923 single base substitution C T missense_variant R21C 61C>T COCA-CN 7 151038923 151038923 single base substitution C T upstream_gene_variant COCA-CN 7 151039021 151039021 single base substitution T C 5_prime_UTR_variant COCA-CN 7 151039021 151039021 single base substitution T C intron_variant COCA-CN 7 151039021 151039021 single base substitution T C upstream_gene_variant COCA-CN 7 151042488 151042488 single base substitution A G exon_variant COCA-CN 7 151042488 151042488 single base substitution A G missense_variant D18G 53A>G COCA-CN 7 151042488 151042488 single base substitution A G missense_variant D42G 125A>G COCA-CN 7 151050026 151050026 single base substitution T C intron_variant COCA-CN 7 151068456 151068456 single base substitution A C downstream_gene_variant COCA-CN 7 151068456 151068456 single base substitution A C intron_variant COCA-CN 7 151071271 151071271 single base substitution C T downstream_gene_variant COCA-CN 7 151071271 151071271 single base substitution C T intron_variant COCA-CN 7 151071271 151071271 single base substitution C T missense_variant T446M 1337C>T COCA-CN 7 151071271 151071271 single base substitution C T missense_variant T470M 1409C>T COCA-CN 7 151071271 151071271 single base substitution C T missense_variant T49M 146C>T COCA-CN 7 151073640 151073640 single base substitution G T downstream_gene_variant COCA-CN 7 151073640 151073640 single base substitution G T intron_variant ESAD-UK 7 151034755 151034755 single base substitution T A upstream_gene_variant ESAD-UK 7 151036800 151036800 single base substitution G A upstream_gene_variant ESAD-UK 7 151037159 151037159 single base substitution T G upstream_gene_variant ESAD-UK 7 151038151 151038151 single base substitution T C upstream_gene_variant ESAD-UK 7 151043352 151043352 single base substitution C T intron_variant ESAD-UK 7 151043352 151043352 single base substitution C T upstream_gene_variant ESAD-UK 7 151045156 151045156 single base substitution A G intron_variant ESAD-UK 7 151045156 151045156 single base substitution A G upstream_gene_variant ESAD-UK 7 151045194 151045194 single base substitution T G intron_variant ESAD-UK 7 151045194 151045194 single base substitution T G upstream_gene_variant ESAD-UK 7 151047158 151047161 deletion of <=200bp GAGA - intron_variant ESAD-UK 7 151047158 151047161 deletion of <=200bp GAGA - upstream_gene_variant ESAD-UK 7 151049669 151049669 single base substitution C T intron_variant ESAD-UK 7 151054976 151054976 single base substitution A G downstream_gene_variant ESAD-UK 7 151054976 151054976 single base substitution A G intron_variant ESAD-UK 7 151054976 151054976 single base substitution A G upstream_gene_variant ESAD-UK 7 151055488 151055488 single base substitution C T downstream_gene_variant ESAD-UK 7 151055488 151055488 single base substitution C T intron_variant ESAD-UK 7 151055488 151055488 single base substitution C T upstream_gene_variant ESAD-UK 7 151058810 151058810 single base substitution G A downstream_gene_variant ESAD-UK 7 151058810 151058810 single base substitution G A intron_variant ESAD-UK 7 151059209 151059209 single base substitution G A downstream_gene_variant ESAD-UK 7 151059209 151059209 single base substitution G A intron_variant ESAD-UK 7 151060876 151060876 insertion of <=200bp - T downstream_gene_variant ESAD-UK 7 151060876 151060876 insertion of <=200bp - T intron_variant ESAD-UK 7 151060876 151060876 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 151060889 151060889 single base substitution A C downstream_gene_variant ESAD-UK 7 151060889 151060889 single base substitution A C intron_variant ESAD-UK 7 151060889 151060889 single base substitution A C upstream_gene_variant ESAD-UK 7 151063633 151063633 single base substitution G T intron_variant ESAD-UK 7 151063633 151063633 single base substitution G T upstream_gene_variant ESAD-UK 7 151065197 151065197 single base substitution A T intron_variant ESAD-UK 7 151065197 151065197 single base substitution A T upstream_gene_variant ESAD-UK 7 151065397 151065397 single base substitution A G intron_variant ESAD-UK 7 151065397 151065397 single base substitution A G upstream_gene_variant ESAD-UK 7 151066985 151066985 single base substitution T C downstream_gene_variant ESAD-UK 7 151066985 151066985 single base substitution T C intron_variant ESAD-UK 7 151070788 151070788 single base substitution G A downstream_gene_variant ESAD-UK 7 151070788 151070788 single base substitution G A intron_variant ESAD-UK 7 151073611 151073611 single base substitution C T downstream_gene_variant ESAD-UK 7 151073611 151073611 single base substitution C T intron_variant ESAD-UK 7 151073662 151073662 single base substitution C T downstream_gene_variant ESAD-UK 7 151073662 151073662 single base substitution C T intron_variant ESAD-UK 7 151076789 151076789 single base substitution C T downstream_gene_variant ESAD-UK 7 151078621 151078621 single base substitution G A downstream_gene_variant ESAD-UK 7 151079384 151079384 single base substitution G A downstream_gene_variant ESAD-UK 7 151079971 151079971 single base substitution G A downstream_gene_variant ESAD-UK 7 151080437 151080437 single base substitution G T downstream_gene_variant GBM-US 7 151065966 151065966 single base substitution G A downstream_gene_variant GBM-US 7 151065966 151065966 single base substitution G A exon_variant GBM-US 7 151065966 151065966 single base substitution G A missense_variant R17H 50G>A GBM-US 7 151065966 151065966 single base substitution G A missense_variant R414H 1241G>A GBM-US 7 151065966 151065966 single base substitution G A missense_variant R438H 1313G>A GBM-US 7 151065966 151065966 single base substitution G A missense_variant R49H 146G>A KIRC-US 7 151042440 151042440 single base substitution C A exon_variant KIRC-US 7 151042440 151042440 single base substitution C A missense_variant A26E 77C>A KIRC-US 7 151042440 151042440 single base substitution C A missense_variant A2E 5C>A KIRP-US 7 151064971 151064971 single base substitution C A exon_variant KIRP-US 7 151064971 151064971 single base substitution C A missense_variant L338M 1012C>A KIRP-US 7 151064971 151064971 single base substitution C A missense_variant L362M 1084C>A KIRP-US 7 151064971 151064971 single base substitution C A upstream_gene_variant LAML-KR 7 151074015 151074015 single base substitution G C downstream_gene_variant LAML-KR 7 151074015 151074015 single base substitution G C intron_variant LICA-FR 7 151057602 151057602 single base substitution A G 3_prime_UTR_variant LICA-FR 7 151057602 151057602 single base substitution A G downstream_gene_variant LICA-FR 7 151057602 151057602 single base substitution A G intron_variant LICA-FR 7 151078821 151078821 single base substitution C T downstream_gene_variant LINC-JP 7 151039052 151039052 single base substitution G C intron_variant LINC-JP 7 151039052 151039052 single base substitution G C splice_donor_variant LINC-JP 7 151039052 151039052 single base substitution G C upstream_gene_variant LINC-JP 7 151053178 151053178 single base substitution A C downstream_gene_variant LINC-JP 7 151053178 151053178 single base substitution A C intron_variant LINC-JP 7 151053178 151053178 single base substitution A C upstream_gene_variant LINC-JP 7 151064219 151064219 single base substitution C G splice_region_variant LINC-JP 7 151064219 151064219 single base substitution C G upstream_gene_variant LINC-JP 7 151065884 151065884 single base substitution G T exon_variant LINC-JP 7 151065884 151065884 single base substitution G T missense_variant G22W 64G>T LINC-JP 7 151065884 151065884 single base substitution G T missense_variant G387W 1159G>T LINC-JP 7 151065884 151065884 single base substitution G T missense_variant G411W 1231G>T LINC-JP 7 151065884 151065884 single base substitution G T upstream_gene_variant LINC-JP 7 151079024 151079024 single base substitution C A downstream_gene_variant LINC-JP 7 151079082 151079082 single base substitution C T downstream_gene_variant LIRI-JP 7 151033837 151033837 single base substitution T C upstream_gene_variant LIRI-JP 7 151033971 151033971 single base substitution C T upstream_gene_variant LIRI-JP 7 151035904 151035904 single base substitution G A upstream_gene_variant LIRI-JP 7 151036472 151036472 single base substitution A G upstream_gene_variant LIRI-JP 7 151036724 151036724 single base substitution C A upstream_gene_variant LIRI-JP 7 151040004 151040004 single base substitution A G intron_variant LIRI-JP 7 151040004 151040004 single base substitution A G upstream_gene_variant LIRI-JP 7 151042839 151042839 single base substitution A G intron_variant LIRI-JP 7 151045681 151045681 single base substitution A T intron_variant LIRI-JP 7 151045681 151045681 single base substitution A T upstream_gene_variant LIRI-JP 7 151046137 151046137 single base substitution A G intron_variant LIRI-JP 7 151046137 151046137 single base substitution A G upstream_gene_variant LIRI-JP 7 151047851 151047851 single base substitution G T intron_variant LIRI-JP 7 151047851 151047851 single base substitution G T upstream_gene_variant LIRI-JP 7 151049763 151049763 single base substitution A T intron_variant LIRI-JP 7 151054042 151054042 single base substitution A C downstream_gene_variant LIRI-JP 7 151054042 151054042 single base substitution A C intron_variant LIRI-JP 7 151054042 151054042 single base substitution A C upstream_gene_variant LIRI-JP 7 151054054 151054054 single base substitution T G downstream_gene_variant LIRI-JP 7 151054054 151054054 single base substitution T G intron_variant LIRI-JP 7 151054054 151054054 single base substitution T G upstream_gene_variant LIRI-JP 7 151054088 151054088 single base substitution C T downstream_gene_variant LIRI-JP 7 151054088 151054088 single base substitution C T intron_variant LIRI-JP 7 151054088 151054088 single base substitution C T upstream_gene_variant LIRI-JP 7 151054357 151054357 single base substitution G A downstream_gene_variant LIRI-JP 7 151054357 151054357 single base substitution G A intron_variant LIRI-JP 7 151054357 151054357 single base substitution G A upstream_gene_variant LIRI-JP 7 151058395 151058395 single base substitution A G downstream_gene_variant LIRI-JP 7 151058395 151058395 single base substitution A G intron_variant LIRI-JP 7 151058724 151058724 single base substitution C A downstream_gene_variant LIRI-JP 7 151058724 151058724 single base substitution C A intron_variant LIRI-JP 7 151058769 151058769 single base substitution A G downstream_gene_variant LIRI-JP 7 151058769 151058769 single base substitution A G intron_variant LIRI-JP 7 151060327 151060327 single base substitution C T downstream_gene_variant LIRI-JP 7 151060327 151060327 single base substitution C T intron_variant LIRI-JP 7 151060444 151060444 single base substitution G T downstream_gene_variant LIRI-JP 7 151060444 151060444 single base substitution G T intron_variant LIRI-JP 7 151062118 151062118 single base substitution C T downstream_gene_variant LIRI-JP 7 151062118 151062118 single base substitution C T intron_variant LIRI-JP 7 151062118 151062118 single base substitution C T upstream_gene_variant LIRI-JP 7 151062994 151062994 single base substitution G C downstream_gene_variant LIRI-JP 7 151062994 151062994 single base substitution G C intron_variant LIRI-JP 7 151062994 151062994 single base substitution G C upstream_gene_variant LIRI-JP 7 151065109 151065109 single base substitution G A intron_variant LIRI-JP 7 151065109 151065109 single base substitution G A upstream_gene_variant LIRI-JP 7 151065397 151065397 single base substitution A C intron_variant LIRI-JP 7 151065397 151065397 single base substitution A C upstream_gene_variant LIRI-JP 7 151065607 151065607 single base substitution C T intron_variant LIRI-JP 7 151065607 151065607 single base substitution C T upstream_gene_variant LIRI-JP 7 151066394 151066394 single base substitution G T downstream_gene_variant LIRI-JP 7 151066394 151066394 single base substitution G T intron_variant LIRI-JP 7 151070374 151070374 single base substitution C G downstream_gene_variant LIRI-JP 7 151070374 151070374 single base substitution C G intron_variant LIRI-JP 7 151071373 151071373 single base substitution G A intron_variant LIRI-JP 7 151071373 151071373 single base substitution G A missense_variant G83E 248G>A LIRI-JP 7 151073153 151073153 single base substitution A T downstream_gene_variant LIRI-JP 7 151073153 151073153 single base substitution A T intron_variant LIRI-JP 7 151075419 151075419 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 151075419 151075419 single base substitution A G downstream_gene_variant LIRI-JP 7 151075774 151075774 single base substitution T G downstream_gene_variant LIRI-JP 7 151077158 151077159 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 7 151077429 151077429 single base substitution G A downstream_gene_variant LIRI-JP 7 151078938 151078938 single base substitution G T downstream_gene_variant LIRI-JP 7 151079425 151079425 single base substitution C T downstream_gene_variant LIRI-JP 7 151079443 151079443 single base substitution G A downstream_gene_variant LUSC-KR 7 151035331 151035331 single base substitution T A upstream_gene_variant LUSC-KR 7 151040380 151040380 single base substitution C T intron_variant LUSC-KR 7 151040380 151040380 single base substitution C T upstream_gene_variant LUSC-KR 7 151046971 151046971 single base substitution G T intron_variant LUSC-KR 7 151046971 151046971 single base substitution G T upstream_gene_variant LUSC-KR 7 151049003 151049003 single base substitution A T intron_variant LUSC-KR 7 151049003 151049003 single base substitution A T upstream_gene_variant LUSC-KR 7 151049252 151049252 single base substitution A T exon_variant LUSC-KR 7 151049252 151049252 single base substitution A T intron_variant LUSC-KR 7 151049252 151049252 single base substitution A T upstream_gene_variant LUSC-KR 7 151057147 151057147 single base substitution T C downstream_gene_variant LUSC-KR 7 151057147 151057147 single base substitution T C intron_variant LUSC-KR 7 151057147 151057147 single base substitution T C upstream_gene_variant LUSC-KR 7 151059511 151059511 single base substitution C G downstream_gene_variant LUSC-KR 7 151059511 151059511 single base substitution C G intron_variant LUSC-KR 7 151063592 151063592 single base substitution G T intron_variant LUSC-KR 7 151063592 151063592 single base substitution G T upstream_gene_variant LUSC-KR 7 151064064 151064064 single base substitution C T exon_variant LUSC-KR 7 151064064 151064064 single base substitution C T synonymous_variant Y280Y 840C>T LUSC-KR 7 151064064 151064064 single base substitution C T synonymous_variant Y304Y 912C>T LUSC-KR 7 151064064 151064064 single base substitution C T upstream_gene_variant LUSC-KR 7 151064825 151064825 single base substitution A G intron_variant LUSC-KR 7 151064825 151064825 single base substitution A G upstream_gene_variant LUSC-KR 7 151074015 151074015 single base substitution G C downstream_gene_variant LUSC-KR 7 151074015 151074015 single base substitution G C intron_variant LUSC-KR 7 151074296 151074296 single base substitution A G downstream_gene_variant LUSC-KR 7 151074296 151074296 single base substitution A G synonymous_variant A197A 591A>G LUSC-KR 7 151074296 151074296 single base substitution A G synonymous_variant A597A 1791A>G LUSC-KR 7 151074296 151074296 single base substitution A G synonymous_variant A611A 1833A>G LUSC-KR 7 151074296 151074296 single base substitution A G synonymous_variant A621A 1863A>G LUSC-KR 7 151074296 151074296 single base substitution A G synonymous_variant A635A 1905A>G LUSC-KR 7 151074889 151074889 single base substitution G C 3_prime_UTR_variant LUSC-KR 7 151074889 151074889 single base substitution G C downstream_gene_variant LUSC-KR 7 151075833 151075833 single base substitution A G downstream_gene_variant LUSC-KR 7 151078218 151078218 single base substitution T C downstream_gene_variant MALY-DE 7 151035212 151035212 single base substitution C T upstream_gene_variant MALY-DE 7 151037033 151037033 single base substitution G A upstream_gene_variant MALY-DE 7 151039074 151039085 deletion of <=200bp GGGCCGGGGCCG - intron_variant MALY-DE 7 151039074 151039085 deletion of <=200bp GGGCCGGGGCCG - upstream_gene_variant MALY-DE 7 151046736 151046736 single base substitution C A intron_variant MALY-DE 7 151046736 151046736 single base substitution C A upstream_gene_variant MALY-DE 7 151047236 151047236 single base substitution T C intron_variant MALY-DE 7 151047236 151047236 single base substitution T C upstream_gene_variant MALY-DE 7 151053695 151053695 single base substitution C A downstream_gene_variant MALY-DE 7 151053695 151053695 single base substitution C A intron_variant MALY-DE 7 151053695 151053695 single base substitution C A upstream_gene_variant MALY-DE 7 151060012 151060012 single base substitution G A downstream_gene_variant MALY-DE 7 151060012 151060012 single base substitution G A intron_variant MALY-DE 7 151080068 151080068 single base substitution T G downstream_gene_variant MELA-AU 7 151033884 151033884 single base substitution G A upstream_gene_variant MELA-AU 7 151034083 151034083 single base substitution G A upstream_gene_variant MELA-AU 7 151034192 151034192 single base substitution G A upstream_gene_variant MELA-AU 7 151034290 151034290 single base substitution C T upstream_gene_variant MELA-AU 7 151034325 151034325 single base substitution G A upstream_gene_variant MELA-AU 7 151034421 151034421 single base substitution G A upstream_gene_variant MELA-AU 7 151034572 151034572 single base substitution G A upstream_gene_variant MELA-AU 7 151034745 151034745 single base substitution C T upstream_gene_variant MELA-AU 7 151034766 151034766 single base substitution C T upstream_gene_variant MELA-AU 7 151034968 151034969 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 151035017 151035017 single base substitution T G upstream_gene_variant MELA-AU 7 151035158 151035158 single base substitution C T upstream_gene_variant MELA-AU 7 151035252 151035252 single base substitution C T upstream_gene_variant MELA-AU 7 151035314 151035314 single base substitution G A upstream_gene_variant MELA-AU 7 151035372 151035372 single base substitution G A upstream_gene_variant MELA-AU 7 151035392 151035392 single base substitution C T upstream_gene_variant MELA-AU 7 151035506 151035506 single base substitution G A upstream_gene_variant MELA-AU 7 151035653 151035653 single base substitution T A upstream_gene_variant MELA-AU 7 151035691 151035691 single base substitution C T upstream_gene_variant MELA-AU 7 151035862 151035862 single base substitution C T upstream_gene_variant MELA-AU 7 151035877 151035877 single base substitution G A upstream_gene_variant MELA-AU 7 151035883 151035883 single base substitution C T upstream_gene_variant MELA-AU 7 151036028 151036028 single base substitution G A upstream_gene_variant MELA-AU 7 151036179 151036179 single base substitution C T upstream_gene_variant MELA-AU 7 151036656 151036656 single base substitution C T upstream_gene_variant MELA-AU 7 151036864 151036864 single base substitution T C upstream_gene_variant MELA-AU 7 151037233 151037233 single base substitution C T upstream_gene_variant MELA-AU 7 151037324 151037324 single base substitution T G upstream_gene_variant MELA-AU 7 151037330 151037330 single base substitution C T upstream_gene_variant MELA-AU 7 151037512 151037512 single base substitution A G upstream_gene_variant MELA-AU 7 151037756 151037756 single base substitution G A upstream_gene_variant MELA-AU 7 151037995 151037995 single base substitution G T upstream_gene_variant MELA-AU 7 151038016 151038016 single base substitution G A upstream_gene_variant MELA-AU 7 151038188 151038188 single base substitution C T upstream_gene_variant MELA-AU 7 151038372 151038372 single base substitution G A upstream_gene_variant MELA-AU 7 151038400 151038400 single base substitution C T upstream_gene_variant MELA-AU 7 151038450 151038450 single base substitution G A upstream_gene_variant MELA-AU 7 151038643 151038643 single base substitution C T upstream_gene_variant MELA-AU 7 151038719 151038719 single base substitution C T upstream_gene_variant MELA-AU 7 151038741 151038741 single base substitution C T upstream_gene_variant MELA-AU 7 151038766 151038766 single base substitution C T upstream_gene_variant MELA-AU 7 151038786 151038786 single base substitution C T 5_prime_UTR_variant MELA-AU 7 151038786 151038786 single base substitution C T upstream_gene_variant MELA-AU 7 151038794 151038794 single base substitution C T 5_prime_UTR_variant MELA-AU 7 151038794 151038794 single base substitution C T upstream_gene_variant MELA-AU 7 151038860 151038860 single base substitution G A 5_prime_UTR_variant MELA-AU 7 151038860 151038860 single base substitution G A upstream_gene_variant MELA-AU 7 151040636 151040636 single base substitution C T intron_variant MELA-AU 7 151040636 151040636 single base substitution C T upstream_gene_variant MELA-AU 7 151040722 151040722 single base substitution C T intron_variant MELA-AU 7 151040722 151040722 single base substitution C T upstream_gene_variant MELA-AU 7 151041028 151041028 single base substitution G A intron_variant MELA-AU 7 151041028 151041028 single base substitution G A upstream_gene_variant MELA-AU 7 151041532 151041532 single base substitution G A intron_variant MELA-AU 7 151041532 151041532 single base substitution G A upstream_gene_variant MELA-AU 7 151042079 151042080 multiple base substitution (>=2bp and <=200bp) CC GA intron_variant MELA-AU 7 151042079 151042080 multiple base substitution (>=2bp and <=200bp) CC GA upstream_gene_variant MELA-AU 7 151043384 151043384 single base substitution T C intron_variant MELA-AU 7 151043384 151043384 single base substitution T C upstream_gene_variant MELA-AU 7 151043768 151043768 single base substitution C T intron_variant MELA-AU 7 151043768 151043768 single base substitution C T upstream_gene_variant MELA-AU 7 151043928 151043929 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151043928 151043929 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 151044552 151044552 single base substitution C T intron_variant MELA-AU 7 151044552 151044552 single base substitution C T upstream_gene_variant MELA-AU 7 151044634 151044634 single base substitution C T intron_variant MELA-AU 7 151044634 151044634 single base substitution C T upstream_gene_variant MELA-AU 7 151045301 151045301 single base substitution C T intron_variant MELA-AU 7 151045301 151045301 single base substitution C T upstream_gene_variant MELA-AU 7 151045479 151045479 single base substitution C T intron_variant MELA-AU 7 151045479 151045479 single base substitution C T upstream_gene_variant MELA-AU 7 151045672 151045672 single base substitution T A intron_variant MELA-AU 7 151045672 151045672 single base substitution T A upstream_gene_variant MELA-AU 7 151045686 151045686 single base substitution G A intron_variant MELA-AU 7 151045686 151045686 single base substitution G A upstream_gene_variant MELA-AU 7 151046338 151046338 single base substitution C T intron_variant MELA-AU 7 151046338 151046338 single base substitution C T upstream_gene_variant MELA-AU 7 151046520 151046520 single base substitution G A intron_variant MELA-AU 7 151046520 151046520 single base substitution G A upstream_gene_variant MELA-AU 7 151046613 151046613 single base substitution G C intron_variant MELA-AU 7 151046613 151046613 single base substitution G C upstream_gene_variant MELA-AU 7 151046704 151046704 single base substitution C T intron_variant MELA-AU 7 151046704 151046704 single base substitution C T upstream_gene_variant MELA-AU 7 151046919 151046919 single base substitution C T intron_variant MELA-AU 7 151046919 151046919 single base substitution C T upstream_gene_variant MELA-AU 7 151047381 151047381 single base substitution C T intron_variant MELA-AU 7 151047381 151047381 single base substitution C T upstream_gene_variant MELA-AU 7 151047769 151047769 single base substitution A G intron_variant MELA-AU 7 151047769 151047769 single base substitution A G upstream_gene_variant MELA-AU 7 151048645 151048645 single base substitution C T intron_variant MELA-AU 7 151048645 151048645 single base substitution C T upstream_gene_variant MELA-AU 7 151050071 151050071 single base substitution C T intron_variant MELA-AU 7 151051114 151051114 single base substitution C T intron_variant MELA-AU 7 151051610 151051610 single base substitution T A intron_variant MELA-AU 7 151051702 151051702 single base substitution C T intron_variant MELA-AU 7 151052021 151052021 single base substitution G A intron_variant MELA-AU 7 151053004 151053005 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 7 151053004 151053005 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151053004 151053005 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 7 151053004 151053005 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T189I 566CC>TT MELA-AU 7 151053004 151053005 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T213I 638CC>TT MELA-AU 7 151053004 151053005 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 151053164 151053164 single base substitution C T downstream_gene_variant MELA-AU 7 151053164 151053164 single base substitution C T intron_variant MELA-AU 7 151053164 151053164 single base substitution C T upstream_gene_variant MELA-AU 7 151053291 151053291 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151053291 151053291 single base substitution C T downstream_gene_variant MELA-AU 7 151053291 151053291 single base substitution C T exon_variant MELA-AU 7 151053291 151053291 single base substitution C T missense_variant P226S 676C>T MELA-AU 7 151053291 151053291 single base substitution C T missense_variant P250S 748C>T MELA-AU 7 151053291 151053291 single base substitution C T upstream_gene_variant MELA-AU 7 151053826 151053826 single base substitution G A downstream_gene_variant MELA-AU 7 151053826 151053826 single base substitution G A intron_variant MELA-AU 7 151053826 151053826 single base substitution G A upstream_gene_variant MELA-AU 7 151054008 151054008 single base substitution G A downstream_gene_variant MELA-AU 7 151054008 151054008 single base substitution G A intron_variant MELA-AU 7 151054008 151054008 single base substitution G A upstream_gene_variant MELA-AU 7 151054333 151054333 single base substitution C T downstream_gene_variant MELA-AU 7 151054333 151054333 single base substitution C T intron_variant MELA-AU 7 151054333 151054333 single base substitution C T upstream_gene_variant MELA-AU 7 151054451 151054451 single base substitution C T downstream_gene_variant MELA-AU 7 151054451 151054451 single base substitution C T intron_variant MELA-AU 7 151054451 151054451 single base substitution C T upstream_gene_variant MELA-AU 7 151054844 151054844 single base substitution C T downstream_gene_variant MELA-AU 7 151054844 151054844 single base substitution C T intron_variant MELA-AU 7 151054844 151054844 single base substitution C T upstream_gene_variant MELA-AU 7 151054922 151054922 single base substitution C T downstream_gene_variant MELA-AU 7 151054922 151054922 single base substitution C T intron_variant MELA-AU 7 151054922 151054922 single base substitution C T upstream_gene_variant MELA-AU 7 151055440 151055440 single base substitution C T downstream_gene_variant MELA-AU 7 151055440 151055440 single base substitution C T intron_variant MELA-AU 7 151055440 151055440 single base substitution C T upstream_gene_variant MELA-AU 7 151055715 151055715 single base substitution C T downstream_gene_variant MELA-AU 7 151055715 151055715 single base substitution C T intron_variant MELA-AU 7 151055715 151055715 single base substitution C T upstream_gene_variant MELA-AU 7 151055898 151055898 single base substitution C T downstream_gene_variant MELA-AU 7 151055898 151055898 single base substitution C T intron_variant MELA-AU 7 151055898 151055898 single base substitution C T upstream_gene_variant MELA-AU 7 151055899 151055899 single base substitution C T downstream_gene_variant MELA-AU 7 151055899 151055899 single base substitution C T intron_variant MELA-AU 7 151055899 151055899 single base substitution C T upstream_gene_variant MELA-AU 7 151056167 151056167 deletion of <=200bp A - downstream_gene_variant MELA-AU 7 151056167 151056167 deletion of <=200bp A - intron_variant MELA-AU 7 151056167 151056167 deletion of <=200bp A - upstream_gene_variant MELA-AU 7 151056777 151056777 single base substitution C T downstream_gene_variant MELA-AU 7 151056777 151056777 single base substitution C T intron_variant MELA-AU 7 151056777 151056777 single base substitution C T upstream_gene_variant MELA-AU 7 151057034 151057034 single base substitution A T downstream_gene_variant MELA-AU 7 151057034 151057034 single base substitution A T intron_variant MELA-AU 7 151057034 151057034 single base substitution A T upstream_gene_variant MELA-AU 7 151057054 151057054 single base substitution T C downstream_gene_variant MELA-AU 7 151057054 151057054 single base substitution T C intron_variant MELA-AU 7 151057054 151057054 single base substitution T C upstream_gene_variant MELA-AU 7 151057251 151057251 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151057251 151057251 single base substitution C T downstream_gene_variant MELA-AU 7 151057251 151057251 single base substitution C T exon_variant MELA-AU 7 151057251 151057251 single base substitution C T missense_variant H240Y 718C>T MELA-AU 7 151057251 151057251 single base substitution C T missense_variant H264Y 790C>T MELA-AU 7 151057667 151057667 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151057667 151057667 single base substitution C T downstream_gene_variant MELA-AU 7 151057667 151057667 single base substitution C T intron_variant MELA-AU 7 151058125 151058125 single base substitution C T downstream_gene_variant MELA-AU 7 151058125 151058125 single base substitution C T intron_variant MELA-AU 7 151058208 151058208 single base substitution T G 3_prime_UTR_variant MELA-AU 7 151058208 151058208 single base substitution T G downstream_gene_variant MELA-AU 7 151058208 151058208 single base substitution T G intron_variant MELA-AU 7 151058837 151058837 single base substitution G A downstream_gene_variant MELA-AU 7 151058837 151058837 single base substitution G A intron_variant MELA-AU 7 151059079 151059079 single base substitution A T downstream_gene_variant MELA-AU 7 151059079 151059079 single base substitution A T intron_variant MELA-AU 7 151059336 151059337 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 7 151059336 151059337 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 7 151059491 151059491 single base substitution C T downstream_gene_variant MELA-AU 7 151059491 151059491 single base substitution C T intron_variant MELA-AU 7 151060172 151060172 single base substitution C T downstream_gene_variant MELA-AU 7 151060172 151060172 single base substitution C T intron_variant MELA-AU 7 151060819 151060819 single base substitution T G downstream_gene_variant MELA-AU 7 151060819 151060819 single base substitution T G intron_variant MELA-AU 7 151060819 151060819 single base substitution T G upstream_gene_variant MELA-AU 7 151060882 151060882 single base substitution C T downstream_gene_variant MELA-AU 7 151060882 151060882 single base substitution C T intron_variant MELA-AU 7 151060882 151060882 single base substitution C T upstream_gene_variant MELA-AU 7 151061169 151061169 single base substitution C T downstream_gene_variant MELA-AU 7 151061169 151061169 single base substitution C T intron_variant MELA-AU 7 151061169 151061169 single base substitution C T upstream_gene_variant MELA-AU 7 151061257 151061257 single base substitution C T downstream_gene_variant MELA-AU 7 151061257 151061257 single base substitution C T intron_variant MELA-AU 7 151061257 151061257 single base substitution C T upstream_gene_variant MELA-AU 7 151061527 151061528 multiple base substitution (>=2bp and <=200bp) AC CA downstream_gene_variant MELA-AU 7 151061527 151061528 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant MELA-AU 7 151061527 151061528 multiple base substitution (>=2bp and <=200bp) AC CA upstream_gene_variant MELA-AU 7 151061843 151061843 single base substitution C T downstream_gene_variant MELA-AU 7 151061843 151061843 single base substitution C T intron_variant MELA-AU 7 151061843 151061843 single base substitution C T upstream_gene_variant MELA-AU 7 151062309 151062309 single base substitution C T downstream_gene_variant MELA-AU 7 151062309 151062309 single base substitution C T intron_variant MELA-AU 7 151062309 151062309 single base substitution C T upstream_gene_variant MELA-AU 7 151062775 151062775 single base substitution G C downstream_gene_variant MELA-AU 7 151062775 151062775 single base substitution G C intron_variant MELA-AU 7 151062775 151062775 single base substitution G C upstream_gene_variant MELA-AU 7 151063092 151063092 single base substitution A G downstream_gene_variant MELA-AU 7 151063092 151063092 single base substitution A G intron_variant MELA-AU 7 151063092 151063092 single base substitution A G upstream_gene_variant MELA-AU 7 151063235 151063235 single base substitution C T downstream_gene_variant MELA-AU 7 151063235 151063235 single base substitution C T intron_variant MELA-AU 7 151063235 151063235 single base substitution C T upstream_gene_variant MELA-AU 7 151063388 151063388 single base substitution C T intron_variant MELA-AU 7 151063388 151063388 single base substitution C T upstream_gene_variant MELA-AU 7 151063702 151063702 single base substitution C T intron_variant MELA-AU 7 151063702 151063702 single base substitution C T upstream_gene_variant MELA-AU 7 151063868 151063868 single base substitution C T intron_variant MELA-AU 7 151063868 151063868 single base substitution C T upstream_gene_variant MELA-AU 7 151064449 151064449 single base substitution C T intron_variant MELA-AU 7 151064449 151064449 single base substitution C T upstream_gene_variant MELA-AU 7 151064631 151064632 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 151064631 151064632 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 151065168 151065168 single base substitution C T intron_variant MELA-AU 7 151065168 151065168 single base substitution C T upstream_gene_variant MELA-AU 7 151065659 151065659 single base substitution C T intron_variant MELA-AU 7 151065659 151065659 single base substitution C T upstream_gene_variant MELA-AU 7 151065939 151065939 single base substitution A T downstream_gene_variant MELA-AU 7 151065939 151065939 single base substitution A T exon_variant MELA-AU 7 151065939 151065939 single base substitution A T missense_variant D405V 1214A>T MELA-AU 7 151065939 151065939 single base substitution A T missense_variant D40V 119A>T MELA-AU 7 151065939 151065939 single base substitution A T missense_variant D429V 1286A>T MELA-AU 7 151065939 151065939 single base substitution A T missense_variant D8V 23A>T MELA-AU 7 151066207 151066207 single base substitution C T downstream_gene_variant MELA-AU 7 151066207 151066207 single base substitution C T exon_variant MELA-AU 7 151066207 151066207 single base substitution C T intron_variant MELA-AU 7 151066216 151066216 single base substitution C T downstream_gene_variant MELA-AU 7 151066216 151066216 single base substitution C T exon_variant MELA-AU 7 151066216 151066216 single base substitution C T intron_variant MELA-AU 7 151066503 151066503 single base substitution G A downstream_gene_variant MELA-AU 7 151066503 151066503 single base substitution G A intron_variant MELA-AU 7 151066519 151066519 single base substitution C A downstream_gene_variant MELA-AU 7 151066519 151066519 single base substitution C A intron_variant MELA-AU 7 151067060 151067060 single base substitution C T downstream_gene_variant MELA-AU 7 151067060 151067060 single base substitution C T intron_variant MELA-AU 7 151067202 151067202 single base substitution C T downstream_gene_variant MELA-AU 7 151067202 151067202 single base substitution C T intron_variant MELA-AU 7 151067208 151067208 single base substitution C T downstream_gene_variant MELA-AU 7 151067208 151067208 single base substitution C T intron_variant MELA-AU 7 151067619 151067619 single base substitution C T downstream_gene_variant MELA-AU 7 151067619 151067619 single base substitution C T intron_variant MELA-AU 7 151068006 151068006 single base substitution C T downstream_gene_variant MELA-AU 7 151068006 151068006 single base substitution C T intron_variant MELA-AU 7 151068450 151068450 insertion of <=200bp - C downstream_gene_variant MELA-AU 7 151068450 151068450 insertion of <=200bp - C intron_variant MELA-AU 7 151069158 151069158 single base substitution T G downstream_gene_variant MELA-AU 7 151069158 151069158 single base substitution T G intron_variant MELA-AU 7 151069471 151069471 single base substitution C T downstream_gene_variant MELA-AU 7 151069471 151069471 single base substitution C T intron_variant MELA-AU 7 151069863 151069863 single base substitution C T downstream_gene_variant MELA-AU 7 151069863 151069863 single base substitution C T intron_variant MELA-AU 7 151069965 151069965 single base substitution G A downstream_gene_variant MELA-AU 7 151069965 151069965 single base substitution G A intron_variant MELA-AU 7 151069992 151069992 single base substitution C T downstream_gene_variant MELA-AU 7 151069992 151069992 single base substitution C T intron_variant MELA-AU 7 151070127 151070127 single base substitution T C downstream_gene_variant MELA-AU 7 151070127 151070127 single base substitution T C intron_variant MELA-AU 7 151070245 151070245 single base substitution T C downstream_gene_variant MELA-AU 7 151070245 151070245 single base substitution T C intron_variant MELA-AU 7 151070253 151070253 single base substitution C T downstream_gene_variant MELA-AU 7 151070253 151070253 single base substitution C T intron_variant MELA-AU 7 151070422 151070422 single base substitution C T downstream_gene_variant MELA-AU 7 151070422 151070422 single base substitution C T intron_variant MELA-AU 7 151070814 151070814 single base substitution C T downstream_gene_variant MELA-AU 7 151070814 151070814 single base substitution C T intron_variant MELA-AU 7 151070942 151070942 single base substitution C T downstream_gene_variant MELA-AU 7 151070942 151070942 single base substitution C T intron_variant MELA-AU 7 151071340 151071340 single base substitution C T intron_variant MELA-AU 7 151071340 151071340 single base substitution C T missense_variant P72L 215C>T MELA-AU 7 151071931 151071931 single base substitution C T downstream_gene_variant MELA-AU 7 151071931 151071931 single base substitution C T intron_variant MELA-AU 7 151071978 151071978 single base substitution C T downstream_gene_variant MELA-AU 7 151071978 151071978 single base substitution C T intron_variant MELA-AU 7 151072053 151072054 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 151072053 151072054 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 151072237 151072237 single base substitution C T downstream_gene_variant MELA-AU 7 151072237 151072237 single base substitution C T intron_variant MELA-AU 7 151072578 151072578 single base substitution G A downstream_gene_variant MELA-AU 7 151072578 151072578 single base substitution G A intron_variant MELA-AU 7 151072655 151072656 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151072655 151072656 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 151072723 151072723 single base substitution C T downstream_gene_variant MELA-AU 7 151072723 151072723 single base substitution C T intron_variant MELA-AU 7 151073125 151073125 single base substitution C T downstream_gene_variant MELA-AU 7 151073125 151073125 single base substitution C T intron_variant MELA-AU 7 151073162 151073162 single base substitution C T downstream_gene_variant MELA-AU 7 151073162 151073162 single base substitution C T intron_variant MELA-AU 7 151073251 151073251 single base substitution C T downstream_gene_variant MELA-AU 7 151073251 151073251 single base substitution C T intron_variant MELA-AU 7 151073513 151073513 single base substitution C T downstream_gene_variant MELA-AU 7 151073513 151073513 single base substitution C T intron_variant MELA-AU 7 151073892 151073892 single base substitution C T downstream_gene_variant MELA-AU 7 151073892 151073892 single base substitution C T missense_variant S141F 422C>T MELA-AU 7 151073892 151073892 single base substitution C T missense_variant S541F 1622C>T MELA-AU 7 151073892 151073892 single base substitution C T missense_variant S555F 1664C>T MELA-AU 7 151073892 151073892 single base substitution C T missense_variant S565F 1694C>T MELA-AU 7 151073892 151073892 single base substitution C T missense_variant S579F 1736C>T MELA-AU 7 151074380 151074380 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151074380 151074380 single base substitution C T downstream_gene_variant MELA-AU 7 151074643 151074644 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 7 151074643 151074644 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151074731 151074731 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151074731 151074731 single base substitution C T downstream_gene_variant MELA-AU 7 151074820 151074820 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151074820 151074820 single base substitution C T downstream_gene_variant MELA-AU 7 151074821 151074821 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151074821 151074821 single base substitution C T downstream_gene_variant MELA-AU 7 151074825 151074825 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151074825 151074825 single base substitution C T downstream_gene_variant MELA-AU 7 151075500 151075500 single base substitution C T 3_prime_UTR_variant MELA-AU 7 151075500 151075500 single base substitution C T downstream_gene_variant MELA-AU 7 151075712 151075712 single base substitution C T downstream_gene_variant MELA-AU 7 151076429 151076429 single base substitution G A downstream_gene_variant MELA-AU 7 151076440 151076440 single base substitution C T downstream_gene_variant MELA-AU 7 151076742 151076742 single base substitution G A downstream_gene_variant MELA-AU 7 151076792 151076792 single base substitution C T downstream_gene_variant MELA-AU 7 151076793 151076793 single base substitution C T downstream_gene_variant MELA-AU 7 151076805 151076805 single base substitution C T downstream_gene_variant MELA-AU 7 151077149 151077149 single base substitution C A downstream_gene_variant MELA-AU 7 151077409 151077409 single base substitution G A downstream_gene_variant MELA-AU 7 151077550 151077550 single base substitution C T downstream_gene_variant MELA-AU 7 151077708 151077708 single base substitution C T downstream_gene_variant MELA-AU 7 151077954 151077954 single base substitution C T downstream_gene_variant MELA-AU 7 151078389 151078390 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 151078451 151078451 single base substitution G A downstream_gene_variant MELA-AU 7 151078926 151078926 single base substitution C T downstream_gene_variant MELA-AU 7 151078997 151078997 single base substitution G T downstream_gene_variant MELA-AU 7 151079679 151079679 single base substitution G T downstream_gene_variant MELA-AU 7 151079756 151079756 single base substitution C T downstream_gene_variant MELA-AU 7 151080048 151080048 single base substitution G A downstream_gene_variant MELA-AU 7 151080165 151080165 single base substitution G A downstream_gene_variant ORCA-IN 7 151040345 151040345 single base substitution C A intron_variant ORCA-IN 7 151040345 151040345 single base substitution C A upstream_gene_variant ORCA-IN 7 151051254 151051254 single base substitution C G intron_variant ORCA-IN 7 151054205 151054205 single base substitution C T downstream_gene_variant ORCA-IN 7 151054205 151054205 single base substitution C T intron_variant ORCA-IN 7 151054205 151054205 single base substitution C T upstream_gene_variant ORCA-IN 7 151055915 151055915 single base substitution C A downstream_gene_variant ORCA-IN 7 151055915 151055915 single base substitution C A intron_variant ORCA-IN 7 151055915 151055915 single base substitution C A upstream_gene_variant ORCA-IN 7 151057978 151057978 single base substitution C T 3_prime_UTR_variant ORCA-IN 7 151057978 151057978 single base substitution C T downstream_gene_variant ORCA-IN 7 151057978 151057978 single base substitution C T intron_variant ORCA-IN 7 151063892 151063892 single base substitution C G intron_variant ORCA-IN 7 151063892 151063892 single base substitution C G upstream_gene_variant ORCA-IN 7 151071204 151071204 single base substitution G A downstream_gene_variant ORCA-IN 7 151071204 151071204 single base substitution G A intron_variant ORCA-IN 7 151071204 151071204 single base substitution G A missense_variant E27K 79G>A ORCA-IN 7 151071204 151071204 single base substitution G A missense_variant E424K 1270G>A ORCA-IN 7 151071204 151071204 single base substitution G A missense_variant E448K 1342G>A OV-AU 7 151041658 151041658 single base substitution C A intron_variant OV-AU 7 151041658 151041658 single base substitution C A upstream_gene_variant OV-AU 7 151050720 151050720 single base substitution G A intron_variant OV-AU 7 151059948 151059948 single base substitution A G downstream_gene_variant OV-AU 7 151059948 151059948 single base substitution A G intron_variant OV-AU 7 151062053 151062053 single base substitution C G downstream_gene_variant OV-AU 7 151062053 151062053 single base substitution C G intron_variant OV-AU 7 151062053 151062053 single base substitution C G upstream_gene_variant OV-AU 7 151067490 151067490 single base substitution G C downstream_gene_variant OV-AU 7 151067490 151067490 single base substitution G C intron_variant OV-AU 7 151067572 151067572 single base substitution C A downstream_gene_variant OV-AU 7 151067572 151067572 single base substitution C A intron_variant OV-AU 7 151068876 151068876 single base substitution C G downstream_gene_variant OV-AU 7 151068876 151068876 single base substitution C G intron_variant PACA-AU 7 151039598 151039598 insertion of <=200bp - AT intron_variant PACA-AU 7 151039598 151039598 insertion of <=200bp - AT upstream_gene_variant PACA-AU 7 151042941 151042941 deletion of <=200bp T - intron_variant PACA-AU 7 151059132 151059132 single base substitution T C downstream_gene_variant PACA-AU 7 151059132 151059132 single base substitution T C intron_variant PACA-AU 7 151067916 151067916 single base substitution G A downstream_gene_variant PACA-AU 7 151067916 151067916 single base substitution G A intron_variant PACA-AU 7 151068450 151068450 insertion of <=200bp - C downstream_gene_variant PACA-AU 7 151068450 151068450 insertion of <=200bp - C intron_variant PACA-AU 7 151071590 151071590 single base substitution C A 3_prime_UTR_variant PACA-AU 7 151071590 151071590 single base substitution C A intron_variant PACA-AU 7 151071888 151071888 single base substitution G A downstream_gene_variant PACA-AU 7 151071888 151071888 single base substitution G A intron_variant PACA-AU 7 151076918 151076918 single base substitution C T downstream_gene_variant PACA-CA 7 151049129 151049129 single base substitution G A intron_variant PACA-CA 7 151049129 151049129 single base substitution G A upstream_gene_variant PACA-CA 7 151051100 151051100 single base substitution G T intron_variant PACA-CA 7 151052423 151052423 single base substitution G C intron_variant PACA-CA 7 151052423 151052423 single base substitution G C upstream_gene_variant PACA-CA 7 151052514 151052514 single base substitution C G intron_variant PACA-CA 7 151052514 151052514 single base substitution C G upstream_gene_variant PACA-CA 7 151055873 151055873 single base substitution G A downstream_gene_variant PACA-CA 7 151055873 151055873 single base substitution G A intron_variant PACA-CA 7 151055873 151055873 single base substitution G A upstream_gene_variant PACA-CA 7 151058713 151058713 single base substitution T A downstream_gene_variant PACA-CA 7 151058713 151058713 single base substitution T A intron_variant PACA-CA 7 151061655 151061655 single base substitution C T downstream_gene_variant PACA-CA 7 151061655 151061655 single base substitution C T intron_variant PACA-CA 7 151061655 151061655 single base substitution C T upstream_gene_variant PACA-CA 7 151065906 151065906 single base substitution G A downstream_gene_variant PACA-CA 7 151065906 151065906 single base substitution G A exon_variant PACA-CA 7 151065906 151065906 single base substitution G A missense_variant R29Q 86G>A PACA-CA 7 151065906 151065906 single base substitution G A missense_variant R394Q 1181G>A PACA-CA 7 151065906 151065906 single base substitution G A missense_variant R418Q 1253G>A PACA-CA 7 151065906 151065906 single base substitution G A upstream_gene_variant PACA-CA 7 151070641 151070641 single base substitution A G downstream_gene_variant PACA-CA 7 151070641 151070641 single base substitution A G intron_variant PACA-CA 7 151073799 151073799 single base substitution A G downstream_gene_variant PACA-CA 7 151073799 151073799 single base substitution A G missense_variant Q110R 329A>G PACA-CA 7 151073799 151073799 single base substitution A G missense_variant Q510R 1529A>G PACA-CA 7 151073799 151073799 single base substitution A G missense_variant Q524R 1571A>G PACA-CA 7 151073799 151073799 single base substitution A G missense_variant Q534R 1601A>G PACA-CA 7 151073799 151073799 single base substitution A G missense_variant Q548R 1643A>G PACA-CA 7 151075717 151075717 single base substitution A G downstream_gene_variant PACA-CA 7 151077694 151077694 single base substitution G A downstream_gene_variant PACA-CA 7 151079703 151079703 single base substitution T C downstream_gene_variant PAEN-AU 7 151051060 151051060 single base substitution C G intron_variant PAEN-AU 7 151074783 151074783 single base substitution A C 3_prime_UTR_variant PAEN-AU 7 151074783 151074783 single base substitution A C downstream_gene_variant PAEN-AU 7 151074929 151074929 single base substitution G T 3_prime_UTR_variant PAEN-AU 7 151074929 151074929 single base substitution G T downstream_gene_variant PAEN-IT 7 151072746 151072746 single base substitution C A downstream_gene_variant PAEN-IT 7 151072746 151072746 single base substitution C A intron_variant PAEN-IT 7 151078907 151078907 single base substitution G A downstream_gene_variant PBCA-DE 7 151034999 151034999 single base substitution G A upstream_gene_variant PBCA-DE 7 151038505 151038505 single base substitution C T upstream_gene_variant PBCA-DE 7 151040661 151040661 single base substitution G A intron_variant PBCA-DE 7 151040661 151040661 single base substitution G A upstream_gene_variant PBCA-DE 7 151046155 151046155 single base substitution A T splice_region_variant PBCA-DE 7 151046155 151046155 single base substitution A T upstream_gene_variant PBCA-DE 7 151072064 151072064 single base substitution A G downstream_gene_variant PBCA-DE 7 151072064 151072064 single base substitution A G intron_variant PBCA-DE 7 151075340 151075340 single base substitution G A 3_prime_UTR_variant PBCA-DE 7 151075340 151075340 single base substitution G A downstream_gene_variant PRAD-CA 7 151037142 151037142 single base substitution A C upstream_gene_variant PRAD-CA 7 151063078 151063078 single base substitution C G downstream_gene_variant PRAD-CA 7 151063078 151063078 single base substitution C G intron_variant PRAD-CA 7 151063078 151063078 single base substitution C G upstream_gene_variant PRAD-CA 7 151074482 151074482 single base substitution G C 3_prime_UTR_variant PRAD-CA 7 151074482 151074482 single base substitution G C downstream_gene_variant PRAD-UK 7 151059197 151059197 single base substitution T G downstream_gene_variant PRAD-UK 7 151059197 151059197 single base substitution T G intron_variant READ-US 7 151064977 151064977 single base substitution C A exon_variant READ-US 7 151064977 151064977 single base substitution C A missense_variant L340I 1018C>A READ-US 7 151064977 151064977 single base substitution C A missense_variant L364I 1090C>A READ-US 7 151064977 151064977 single base substitution C A upstream_gene_variant RECA-EU 7 151033837 151033837 single base substitution T A upstream_gene_variant RECA-EU 7 151047252 151047252 single base substitution A G intron_variant RECA-EU 7 151047252 151047252 single base substitution A G upstream_gene_variant RECA-EU 7 151059521 151059521 single base substitution T A downstream_gene_variant RECA-EU 7 151059521 151059521 single base substitution T A intron_variant RECA-EU 7 151063324 151063324 single base substitution C T downstream_gene_variant RECA-EU 7 151063324 151063324 single base substitution C T intron_variant RECA-EU 7 151063324 151063324 single base substitution C T upstream_gene_variant RECA-EU 7 151078369 151078369 single base substitution A T downstream_gene_variant SKCA-BR 7 151038674 151038674 single base substitution C T upstream_gene_variant SKCA-BR 7 151039814 151039814 single base substitution C T intron_variant SKCA-BR 7 151039814 151039814 single base substitution C T upstream_gene_variant SKCA-BR 7 151044835 151044835 single base substitution G A intron_variant SKCA-BR 7 151044835 151044835 single base substitution G A upstream_gene_variant SKCA-BR 7 151045956 151045956 single base substitution C T intron_variant SKCA-BR 7 151045956 151045956 single base substitution C T upstream_gene_variant SKCA-BR 7 151049002 151049002 insertion of <=200bp - ATCACACAC intron_variant SKCA-BR 7 151049002 151049002 insertion of <=200bp - ATCACACAC upstream_gene_variant SKCA-BR 7 151052557 151052557 single base substitution C T intron_variant SKCA-BR 7 151052557 151052557 single base substitution C T upstream_gene_variant SKCA-BR 7 151054269 151054272 deletion of <=200bp ATTT - downstream_gene_variant SKCA-BR 7 151054269 151054272 deletion of <=200bp ATTT - intron_variant SKCA-BR 7 151054269 151054272 deletion of <=200bp ATTT - upstream_gene_variant SKCA-BR 7 151055446 151055446 single base substitution C T downstream_gene_variant SKCA-BR 7 151055446 151055446 single base substitution C T intron_variant SKCA-BR 7 151055446 151055446 single base substitution C T upstream_gene_variant SKCA-BR 7 151055640 151055640 single base substitution G C downstream_gene_variant SKCA-BR 7 151055640 151055640 single base substitution G C intron_variant SKCA-BR 7 151055640 151055640 single base substitution G C upstream_gene_variant SKCA-BR 7 151056528 151056528 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 7 151056528 151056528 insertion of <=200bp - CA intron_variant SKCA-BR 7 151056528 151056528 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 7 151056565 151056565 single base substitution C T downstream_gene_variant SKCA-BR 7 151056565 151056565 single base substitution C T intron_variant SKCA-BR 7 151056565 151056565 single base substitution C T upstream_gene_variant SKCA-BR 7 151057488 151057488 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 151057488 151057488 single base substitution C T downstream_gene_variant SKCA-BR 7 151057488 151057488 single base substitution C T intron_variant SKCA-BR 7 151060074 151060074 single base substitution C T downstream_gene_variant SKCA-BR 7 151060074 151060074 single base substitution C T intron_variant SKCA-BR 7 151061170 151061170 single base substitution G A downstream_gene_variant SKCA-BR 7 151061170 151061170 single base substitution G A intron_variant SKCA-BR 7 151061170 151061170 single base substitution G A upstream_gene_variant SKCA-BR 7 151062116 151062116 single base substitution T C downstream_gene_variant SKCA-BR 7 151062116 151062116 single base substitution T C intron_variant SKCA-BR 7 151062116 151062116 single base substitution T C upstream_gene_variant SKCA-BR 7 151063605 151063609 deletion of <=200bp TAAAG - intron_variant SKCA-BR 7 151063605 151063609 deletion of <=200bp TAAAG - upstream_gene_variant SKCA-BR 7 151064422 151064422 single base substitution A G intron_variant SKCA-BR 7 151064422 151064422 single base substitution A G upstream_gene_variant SKCA-BR 7 151066351 151066351 single base substitution C T downstream_gene_variant SKCA-BR 7 151066351 151066351 single base substitution C T intron_variant SKCA-BR 7 151067780 151067780 single base substitution T C downstream_gene_variant SKCA-BR 7 151067780 151067780 single base substitution T C intron_variant SKCA-BR 7 151069694 151069694 single base substitution A G downstream_gene_variant SKCA-BR 7 151069694 151069694 single base substitution A G intron_variant SKCA-BR 7 151071774 151071774 single base substitution C T downstream_gene_variant SKCA-BR 7 151071774 151071774 single base substitution C T intron_variant SKCA-BR 7 151072140 151072140 single base substitution T G downstream_gene_variant SKCA-BR 7 151072140 151072140 single base substitution T G intron_variant SKCA-BR 7 151073249 151073249 single base substitution T C downstream_gene_variant SKCA-BR 7 151073249 151073249 single base substitution T C intron_variant SKCA-BR 7 151074020 151074020 single base substitution C T downstream_gene_variant SKCA-BR 7 151074020 151074020 single base substitution C T intron_variant SKCA-BR 7 151074021 151074021 single base substitution C T downstream_gene_variant SKCA-BR 7 151074021 151074021 single base substitution C T intron_variant SKCA-BR 7 151076574 151076574 single base substitution A C downstream_gene_variant SKCA-BR 7 151077879 151077879 single base substitution T C downstream_gene_variant SKCA-BR 7 151078881 151078881 single base substitution A G downstream_gene_variant SKCM-US 7 151046271 151046271 single base substitution A G exon_variant SKCM-US 7 151046271 151046271 single base substitution A G missense_variant Y101C 302A>G SKCM-US 7 151046271 151046271 single base substitution A G missense_variant Y77C 230A>G SKCM-US 7 151046271 151046271 single base substitution A G upstream_gene_variant SKCM-US 7 151052945 151052945 single base substitution C T 3_prime_UTR_variant SKCM-US 7 151052945 151052945 single base substitution C T downstream_gene_variant SKCM-US 7 151052945 151052945 single base substitution C T exon_variant SKCM-US 7 151052945 151052945 single base substitution C T synonymous_variant F169F 507C>T SKCM-US 7 151052945 151052945 single base substitution C T synonymous_variant F193F 579C>T SKCM-US 7 151052945 151052945 single base substitution C T upstream_gene_variant SKCM-US 7 151053246 151053246 single base substitution C T 3_prime_UTR_variant SKCM-US 7 151053246 151053246 single base substitution C T downstream_gene_variant SKCM-US 7 151053246 151053246 single base substitution C T exon_variant SKCM-US 7 151053246 151053246 single base substitution C T missense_variant P211S 631C>T SKCM-US 7 151053246 151053246 single base substitution C T missense_variant P235S 703C>T SKCM-US 7 151053246 151053246 single base substitution C T upstream_gene_variant SKCM-US 7 151065825 151065825 single base substitution G A exon_variant SKCM-US 7 151065825 151065825 single base substitution G A missense_variant R2H 5G>A SKCM-US 7 151065825 151065825 single base substitution G A missense_variant R367H 1100G>A SKCM-US 7 151065825 151065825 single base substitution G A missense_variant R391H 1172G>A SKCM-US 7 151065825 151065825 single base substitution G A upstream_gene_variant SKCM-US 7 151072975 151072975 single base substitution C T downstream_gene_variant SKCM-US 7 151072975 151072975 single base substitution C T synonymous_variant S465S 1395C>T SKCM-US 7 151072975 151072975 single base substitution C T synonymous_variant S479S 1437C>T SKCM-US 7 151072975 151072975 single base substitution C T synonymous_variant S489S 1467C>T SKCM-US 7 151072975 151072975 single base substitution C T synonymous_variant S503S 1509C>T SKCM-US 7 151072975 151072975 single base substitution C T synonymous_variant S65S 195C>T SKCM-US 7 151073817 151073817 single base substitution G A downstream_gene_variant SKCM-US 7 151073817 151073817 single base substitution G A missense_variant G116E 347G>A SKCM-US 7 151073817 151073817 single base substitution G A missense_variant G516E 1547G>A SKCM-US 7 151073817 151073817 single base substitution G A missense_variant G530E 1589G>A SKCM-US 7 151073817 151073817 single base substitution G A missense_variant G540E 1619G>A SKCM-US 7 151073817 151073817 single base substitution G A missense_variant G554E 1661G>A SKCM-US 7 151073881 151073881 single base substitution C T downstream_gene_variant SKCM-US 7 151073881 151073881 single base substitution C T synonymous_variant S137S 411C>T SKCM-US 7 151073881 151073881 single base substitution C T synonymous_variant S537S 1611C>T SKCM-US 7 151073881 151073881 single base substitution C T synonymous_variant S551S 1653C>T SKCM-US 7 151073881 151073881 single base substitution C T synonymous_variant S561S 1683C>T SKCM-US 7 151073881 151073881 single base substitution C T synonymous_variant S575S 1725C>T SKCM-US 7 151074236 151074236 single base substitution G A downstream_gene_variant SKCM-US 7 151074236 151074236 single base substitution G A synonymous_variant L177L 531G>A SKCM-US 7 151074236 151074236 single base substitution G A synonymous_variant L577L 1731G>A SKCM-US 7 151074236 151074236 single base substitution G A synonymous_variant L591L 1773G>A SKCM-US 7 151074236 151074236 single base substitution G A synonymous_variant L601L 1803G>A SKCM-US 7 151074236 151074236 single base substitution G A synonymous_variant L615L 1845G>A STAD-US 7 151049913 151049913 single base substitution T C 3_prime_UTR_variant STAD-US 7 151049913 151049913 single base substitution T C exon_variant STAD-US 7 151049913 151049913 single base substitution T C synonymous_variant F120F 360T>C STAD-US 7 151049913 151049913 single base substitution T C synonymous_variant F144F 432T>C STAD-US 7 151052933 151052933 single base substitution G A 3_prime_UTR_variant STAD-US 7 151052933 151052933 single base substitution G A downstream_gene_variant STAD-US 7 151052933 151052933 single base substitution G A exon_variant STAD-US 7 151052933 151052933 single base substitution G A synonymous_variant A165A 495G>A STAD-US 7 151052933 151052933 single base substitution G A synonymous_variant A189A 567G>A STAD-US 7 151052933 151052933 single base substitution G A upstream_gene_variant STAD-US 7 151053219 151053219 single base substitution G T 3_prime_UTR_variant STAD-US 7 151053219 151053219 single base substitution G T downstream_gene_variant STAD-US 7 151053219 151053219 single base substitution G T exon_variant STAD-US 7 151053219 151053219 single base substitution G T stop_gained E202* 604G>T STAD-US 7 151053219 151053219 single base substitution G T stop_gained E226* 676G>T STAD-US 7 151053219 151053219 single base substitution G T upstream_gene_variant STAD-US 7 151053255 151053255 single base substitution G C 3_prime_UTR_variant STAD-US 7 151053255 151053255 single base substitution G C downstream_gene_variant STAD-US 7 151053255 151053255 single base substitution G C exon_variant STAD-US 7 151053255 151053255 single base substitution G C missense_variant D214H 640G>C STAD-US 7 151053255 151053255 single base substitution G C missense_variant D238H 712G>C STAD-US 7 151053255 151053255 single base substitution G C upstream_gene_variant STAD-US 7 151057316 151057316 single base substitution C T 3_prime_UTR_variant STAD-US 7 151057316 151057316 single base substitution C T downstream_gene_variant STAD-US 7 151057316 151057316 single base substitution C T exon_variant STAD-US 7 151057316 151057316 single base substitution C T synonymous_variant D261D 783C>T STAD-US 7 151057316 151057316 single base substitution C T synonymous_variant D285D 855C>T STAD-US 7 151065014 151065014 single base substitution A G exon_variant STAD-US 7 151065014 151065014 single base substitution A G missense_variant H352R 1055A>G STAD-US 7 151065014 151065014 single base substitution A G missense_variant H376R 1127A>G STAD-US 7 151065014 151065014 single base substitution A G upstream_gene_variant STAD-US 7 151072987 151072987 single base substitution C T downstream_gene_variant STAD-US 7 151072987 151072987 single base substitution C T synonymous_variant T469T 1407C>T STAD-US 7 151072987 151072987 single base substitution C T synonymous_variant T483T 1449C>T STAD-US 7 151072987 151072987 single base substitution C T synonymous_variant T493T 1479C>T STAD-US 7 151072987 151072987 single base substitution C T synonymous_variant T507T 1521C>T STAD-US 7 151072987 151072987 single base substitution C T synonymous_variant T69T 207C>T STAD-US 7 151074269 151074269 single base substitution A G downstream_gene_variant STAD-US 7 151074269 151074269 single base substitution A G synonymous_variant L188L 564A>G STAD-US 7 151074269 151074269 single base substitution A G synonymous_variant L588L 1764A>G STAD-US 7 151074269 151074269 single base substitution A G synonymous_variant L602L 1806A>G STAD-US 7 151074269 151074269 single base substitution A G synonymous_variant L612L 1836A>G STAD-US 7 151074269 151074269 single base substitution A G synonymous_variant L626L 1878A>G THCA-SA 7 151074261 151074261 single base substitution G A downstream_gene_variant THCA-SA 7 151074261 151074261 single base substitution G A missense_variant E186K 556G>A THCA-SA 7 151074261 151074261 single base substitution G A missense_variant E586K 1756G>A THCA-SA 7 151074261 151074261 single base substitution G A missense_variant E600K 1798G>A THCA-SA 7 151074261 151074261 single base substitution G A missense_variant E610K 1828G>A THCA-SA 7 151074261 151074261 single base substitution G A missense_variant E624K 1870G>A THCA-SA 7 151074296 151074296 single base substitution A G downstream_gene_variant THCA-SA 7 151074296 151074296 single base substitution A G synonymous_variant A197A 591A>G THCA-SA 7 151074296 151074296 single base substitution A G synonymous_variant A597A 1791A>G THCA-SA 7 151074296 151074296 single base substitution A G synonymous_variant A611A 1833A>G THCA-SA 7 151074296 151074296 single base substitution A G synonymous_variant A621A 1863A>G THCA-SA 7 151074296 151074296 single base substitution A G synonymous_variant A635A 1905A>G UCEC-US 7 151064031 151064031 single base substitution T G exon_variant UCEC-US 7 151064031 151064031 single base substitution T G missense_variant C269W 807T>G UCEC-US 7 151064031 151064031 single base substitution T G missense_variant C293W 879T>G UCEC-US 7 151064031 151064031 single base substitution T G upstream_gene_variant UCEC-US 7 151065946 151065946 single base substitution G A downstream_gene_variant UCEC-US 7 151065946 151065946 single base substitution G A exon_variant UCEC-US 7 151065946 151065946 single base substitution G A synonymous_variant A10A 30G>A UCEC-US 7 151065946 151065946 single base substitution G A synonymous_variant A407A 1221G>A UCEC-US 7 151065946 151065946 single base substitution G A synonymous_variant A42A 126G>A UCEC-US 7 151065946 151065946 single base substitution G A synonymous_variant A431A 1293G>A UCEC-US 7 151071223 151071223 single base substitution G T downstream_gene_variant UCEC-US 7 151071223 151071223 single base substitution G T intron_variant UCEC-US 7 151071223 151071223 single base substitution G T missense_variant R33I 98G>T UCEC-US 7 151071223 151071223 single base substitution G T missense_variant R430I 1289G>T UCEC-US 7 151071223 151071223 single base substitution G T missense_variant R454I 1361G>T UCEC-US 7 151072939 151072939 single base substitution G A downstream_gene_variant UCEC-US 7 151072939 151072939 single base substitution G A synonymous_variant L453L 1359G>A UCEC-US 7 151072939 151072939 single base substitution G A synonymous_variant L467L 1401G>A UCEC-US 7 151072939 151072939 single base substitution G A synonymous_variant L477L 1431G>A UCEC-US 7 151072939 151072939 single base substitution G A synonymous_variant L491L 1473G>A UCEC-US 7 151072939 151072939 single base substitution G A synonymous_variant L53L 159G>A UCEC-US 7 151079030 151079030 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM3879449 c.604G>T p.E202* Substitution - Nonsense 7:151356133-151356133 + C086 COSM5535754 c.1725C>T p.S575S Substitution - coding silent 7:151376795-151376795 + TCGA-AG-A002-01 COSM262481 c.954C>T p.Y318Y Substitution - coding silent 7:151367092-151367092 + T3105 COSM4708602 c.530C>T p.A177V Substitution - Missense 7:151355810-151355810 + ESO-963 COSM1259688 c.1379G>C p.W460S Substitution - Missense 7:151375873-151375873 + CCC1 COSM3663031 c.1159G>T p.G387W Substitution - Missense 7:151368798-151368798 + CSCC-56-T COSM4471714 c.1737C>T p.S579S Substitution - coding silent 7:151376807-151376807 + TCGA-CM-4743-01 COSM1449331 c.438C>T p.G146G Substitution - coding silent 7:151355790-151355790 + HCT15 COSM3262103 c.1377G>A p.M459I Substitution - Missense 7:151375871-151375871 + BD72T COSM3262080 c.279delA p.D96fs*17 Deletion - Frameshift 7:151349234-151349234 + TCGA-A6-6781-01 COSM1449338 c.1518G>A p.Q506Q Substitution - coding silent 7:151376702-151376702 + TCGA-A6-6141-01 COSM4418552 c.912C>T p.Y304Y Substitution - coding silent 7:151366978-151366978 + LUAD-B02216 COSM335725 c.1363A>C p.S455R Substitution - Missense 7:151375857-151375857 + TCGA-EI-6917-01 COSM5826410 c.1090C>A p.L364I Substitution - Missense 7:151367891-151367891 + TCGA-FT-A3EE-01 COSM3778252 c.47G>T p.R16M Substitution - Missense 7:151345396-151345396 + TCGA-CD-A4MG-01 COSM3879450 c.640G>C p.D214H Substitution - Missense 7:151356169-151356169 + TCGA-CM-4743-01 COSM5156484 c.510C>T p.G170G Substitution - coding silent 7:151355790-151355790 + HT55 COSM3262082 c.307A>T p.T103S Substitution - Missense 7:151351445-151351445 + 93VU147T COSM4161974 c.25C>T p.R9C Substitution - Missense 7:151341801-151341801 + 220 COSM4425274 c.927G>A p.L309L Substitution - coding silent 7:151367065-151367065 + T3090 COSM1449336 c.911delA p.K306fs*2 Deletion - Frameshift 7:151367049-151367049 + CCC1T COSM3663031 c.1159G>T p.G387W Substitution - Missense 7:151368798-151368798 + BD135T COSM5516419 c.1218T>C p.H406H Substitution - coding silent 7:151368857-151368857 + BD72T COSM4338518 c.351delA p.D120fs*17 Deletion - Frameshift 7:151349234-151349234 + TCGA-EE-A29N-06 COSM3636374 c.230A>G p.Y77C Substitution - Missense 7:151349185-151349185 + TCGA-FU-A3HZ-01 COSM4840286 c.683T>G p.V228G Substitution - Missense 7:151356140-151356140 + STC246 COSM5062308 c.208C>T p.R70C Substitution - Missense 7:151349163-151349163 + TCGA-D8-A27G-01 COSM3832325 c.1735G>C p.D579H Substitution - Missense 7:151377154-151377154 + 587222 COSM1218021 c.989G>A p.G330E Substitution - Missense 7:151367862-151367862 + BD236T COSM5518816 c.1691C>T p.S564L Substitution - Missense 7:151376761-151376761 + HT55 COSM4360960 c.379A>T p.T127S Substitution - Missense 7:151351445-151351445 + TCGA-CM-4744-01 COSM1449337 c.1133C>A p.S378* Substitution - Nonsense 7:151368772-151368772 + 46M COSM5588483 c.808T>C p.F270L Substitution - Missense 7:151360183-151360183 + PT36 COSM5915698 c.694-5C>T p.? Unknown 7:151360136-151360136 + YUMOKI COSM5407019 c.1107C>T p.L369L Substitution - coding silent 7:151368746-151368746 + ICGC_0004 COSM1157752 c.1191G>C p.L397L Substitution - coding silent 7:151368830-151368830 + sysucc-1050T COSM5765889 c.61C>T p.R21C Substitution - Missense 7:151341837-151341837 + PTC_212 COSM5958316 c.1870G>A p.E624K Substitution - Missense 7:151377175-151377175 + T3090 COSM4338520 c.983delA p.K330fs*2 Deletion - Frameshift 7:151367049-151367049 + T3202 COSM3262080 c.279delA p.D96fs*17 Deletion - Frameshift 7:151349234-151349234 + TCGA-BS-A0TJ-01 COSM1087444 c.1221G>A p.A407A Substitution - coding silent 7:151368860-151368860 + CSCC-32-T COSM4467784 c.1508C>T p.S503F Substitution - Missense 7:151375888-151375888 + PTC_212 COSM5958317 c.1756G>A p.E586K Substitution - Missense 7:151377175-151377175 + sysucc-1317T COSM5191768 c.1337C>T p.T446M Substitution - Missense 7:151374185-151374185 + TCGA-D8-A27G-01 COSM5226627 c.1849G>C p.D617H Substitution - Missense 7:151377154-151377154 + TCGA-EE-A29R-06 COSM3636380 c.1731G>A p.L577L Substitution - coding silent 7:151377150-151377150 + BD216T COSM3663031 c.1159G>T p.G387W Substitution - Missense 7:151368798-151368798 + 220 COSM4425273 c.999G>A p.L333L Substitution - coding silent 7:151367065-151367065 + TCGA-AP-A059-01 COSM1087446 c.1359G>A p.L453L Substitution - coding silent 7:151375853-151375853 + SC_9072 COSM5553550 c.1597G>A p.E533K Substitution - Missense 7:151376667-151376667 + STC246 COSM5062310 c.1641C>A p.A547A Substitution - coding silent 7:151377060-151377060 + TCGA-A8-A09R-01 COSM5202205 c.1077G>C p.E359D Substitution - Missense 7:151367878-151367878 + TCGA-EE-A2MS-06 COSM3636379 c.1611C>T p.S537S Substitution - coding silent 7:151376795-151376795 + SNU-C2B COSM4615361 c.357_357+1insG p.D120fs*2 Unknown 7:151349240-151349241 + LIM2551 COSM4338520 c.983delA p.K330fs*2 Deletion - Frameshift 7:151367049-151367049 + CSCC-56-T COSM4471715 c.1623C>T p.S541S Substitution - coding silent 7:151376807-151376807 + PM-5 COSM5620039 c.1034A>C p.N345T Substitution - Missense 7:151367100-151367100 + SNUH_G76_S1 COSM4418552 c.912C>T p.Y304Y Substitution - coding silent 7:151366978-151366978 + TCGA-AK-3425-01 COSM3366865 c.5C>A p.A2E Substitution - Missense 7:151345354-151345354 + LC_S8 COSM1191038 c.99_100insAA p.V34fs*6 Insertion - Frameshift 7:151345448-151345449 + TCGA-A6-6781-01 COSM5094164 c.1632G>A p.Q544Q Substitution - coding silent 7:151376702-151376702 + PCSI_0090_Pa_X COSM3381862 c.1529A>G p.Q510R Substitution - Missense 7:151376713-151376713 + T2940 COSM3262080 c.279delA p.D96fs*17 Deletion - Frameshift 7:151349234-151349234 + T96 COSM4708600 c.214A>T p.R72* Substitution - Nonsense 7:151349097-151349097 + Pat_63_A COSM3262099 c.1210G>A p.V404M Substitution - Missense 7:151368849-151368849 + YUMOKI COSM5407018 c.1179C>T p.L393L Substitution - coding silent 7:151368746-151368746 + pfg043T COSM4762583 c.922A>C p.N308H Substitution - Missense 7:151367060-151367060 + STC246 COSM5062307 c.280C>T p.R94C Substitution - Missense 7:151349163-151349163 + PTC-7C COSM4161980 c.1791A>G p.A597A Substitution - coding silent 7:151377210-151377210 + T3446 COSM4338518 c.351delA p.D120fs*17 Deletion - Frameshift 7:151349234-151349234 + YUJUBE COSM5407016 c.921C>A p.L307L Substitution - coding silent 7:151366987-151366987 + BD216T COSM5517927 c.1231G>T p.G411W Substitution - Missense 7:151368798-151368798 + TCGA-OL-A5RZ-01 COSM5835351 c.567G>A p.A189A Substitution - coding silent 7:151355847-151355847 + TCGA-FU-A3HZ-01 COSM4840287 c.611T>G p.V204G Substitution - Missense 7:151356140-151356140 + TCGA-G4-6302-01 COSM3698278 c.1512C>T p.N504N Substitution - coding silent 7:151376696-151376696 + TCGA-BQ-7045-01 COSM3995457 c.1012C>A p.L338M Substitution - Missense 7:151367885-151367885 + TCGA-EE-A2GB-06 COSM3636375 c.507C>T p.F169F Substitution - coding silent 7:151355859-151355859 + C086 COSM3636379 c.1611C>T p.S537S Substitution - coding silent 7:151376795-151376795 + 46M COSM5588484 c.736T>C p.F246L Substitution - Missense 7:151360183-151360183 + HCC34 COSM1622582 c.987+8C>G p.? Unknown 7:151367133-151367133 + TCGA-HU-A4H8-01 COSM3879451 c.783C>T p.D261D Substitution - coding silent 7:151360230-151360230 + PTC-7C COSM4161976 c.1662G>A p.E554E Substitution - coding silent 7:151377081-151377081 + T3105 COSM4708603 c.458C>T p.A153V Substitution - Missense 7:151355810-151355810 + CSCC-27-T COSM4516054 c.1544_1545CC>TT p.S515F Substitution - Missense 7:151375924-151375925 + OSCC-GB_00410111 COSM3715712 c.1270G>A p.E424K Substitution - Missense 7:151374118-151374118 + PTC-7C COSM4161975 c.1656C>A p.D552E Substitution - Missense 7:151377075-151377075 + CSCC-10-T COSM4525901 c.1289G>A p.R430K Substitution - Missense 7:151374137-151374137 + PD22358a COSM5784136 c.706G>C p.A236P Substitution - Missense 7:151360153-151360153 + PTC-7C COSM4161979 c.1669G>T p.A557S Substitution - Missense 7:151377088-151377088 + T3202 COSM4338518 c.351delA p.D120fs*17 Deletion - Frameshift 7:151349234-151349234 + TCGA-41-2572-01 COSM3411821 c.1241G>A p.R414H Substitution - Missense 7:151368880-151368880 + HCC34T COSM1622582 c.987+8C>G p.? Unknown 7:151367133-151367133 + sysucc-1317T COSM5191767 c.1409C>T p.T470M Substitution - Missense 7:151374185-151374185 + T2940 COSM4338518 c.351delA p.D120fs*17 Deletion - Frameshift 7:151349234-151349234 + TCGA-BR-6452-01 COSM3879448 c.360T>C p.F120F Substitution - coding silent 7:151352827-151352827 + TCGA-BR-7703-01 COSM3879452 c.1055A>G p.H352R Substitution - Missense 7:151367928-151367928 + TCGA-HU-A4H8-01 COSM3879453 c.1407C>T p.T469T Substitution - coding silent 7:151375901-151375901 + TCGA-DK-A3IN-01 COSM3778253 c.1561C>A p.P521T Substitution - Missense 7:151376745-151376745 + KM12 COSM4338518 c.351delA p.D120fs*17 Deletion - Frameshift 7:151349234-151349234 + ESCC_18 COSM5626161 c.1204G>A p.G402R Substitution - Missense 7:151368843-151368843 + LIM2551 COSM1449336 c.911delA p.K306fs*2 Deletion - Frameshift 7:151367049-151367049 + CSCC-32-T COSM4467785 c.1394C>T p.S465F Substitution - Missense 7:151375888-151375888 + TCGA-CM-4744-01 COSM5156629 c.1205C>A p.S402* Substitution - Nonsense 7:151368772-151368772 + TCGA-GF-A3OT-06 COSM3636377 c.1395C>T p.S465S Substitution - coding silent 7:151375889-151375889 + SCC-15 COSM4161974 c.25C>T p.R9C Substitution - Missense 7:151341801-151341801 + PTC-53C COSM4161974 c.25C>T p.R9C Substitution - Missense 7:151341801-151341801 + YUHAMA COSM5407021 c.1598C>T p.P533L Substitution - Missense 7:151376782-151376782 + TCGA-EI-6917-01 COSM3431397 c.1018C>A p.L340I Substitution - Missense 7:151367891-151367891 + PD11745a COSM5783159 c.1917C>G p.N639K Substitution - Missense 7:151377222-151377222 + TCGA-G4-6302-01 COSM5175102 c.1626C>T p.N542N Substitution - coding silent 7:151376696-151376696 + TCGA-A6-6141-01 COSM1449335 c.840C>T p.Y280Y Substitution - coding silent 7:151366978-151366978 + 41T COSM3715712 c.1270G>A p.E424K Substitution - Missense 7:151374118-151374118 + T96 COSM4708601 c.142A>T p.R48* Substitution - Nonsense 7:151349097-151349097 + DLD1 COSM4360976 c.1491G>A p.M497I Substitution - Missense 7:151375871-151375871 + PTC-7C COSM4161977 c.1664C>T p.T555I Substitution - Missense 7:151377083-151377083 + SNU-C2B COSM4615362 c.285_285+1insG p.D96fs*2 Unknown 7:151349240-151349241 + LUAD-YINHD COSM351569 c.1374G>C p.Q458H Substitution - Missense 7:151375868-151375868 + TCGA-CM-5341-01 COSM5157329 c.791A>T p.H264L Substitution - Missense 7:151360166-151360166 + T3090 COSM3262080 c.279delA p.D96fs*17 Deletion - Frameshift 7:151349234-151349234 + UD-SCC-2 COSM4161974 c.25C>T p.R9C Substitution - Missense 7:151341801-151341801 + PTC-7C COSM4161978 c.1665A>T p.T555T Substitution - coding silent 7:151377084-151377084 + TCGA-OL-A5RZ-01 COSM3832324 c.495G>A p.A165A Substitution - coding silent 7:151355847-151355847 + CSCC-10-T COSM4525900 c.1361G>A p.R454K Substitution - Missense 7:151374137-151374137 + DLD1 COSM3262103 c.1377G>A p.M459I Substitution - Missense 7:151375871-151375871 + TCGA-A8-A09R-01 COSM452653 c.1005G>C p.E335D Substitution - Missense 7:151367878-151367878 + SNU-175 COSM4360985 c.1721C>T p.T574M Substitution - Missense 7:151376791-151376791 + BD72T COSM5512470 c.914C>T p.A305V Substitution - Missense 7:151366980-151366980 + PD22358a COSM5784135 c.778G>C p.A260P Substitution - Missense 7:151360153-151360153 + NCI-H835 COSM3262109 c.1525G>A p.A509T Substitution - Missense 7:151376709-151376709 + T3446 COSM3262080 c.279delA p.D96fs*17 Deletion - Frameshift 7:151349234-151349234 + TCGA-ER-A193-06 COSM3636376 c.1100G>A p.R367H Substitution - Missense 7:151368739-151368739 + pfg043T COSM4762582 c.994A>C p.N332H Substitution - Missense 7:151367060-151367060 + PCSI_0090_Pa_X COSM3381861 c.1181G>A p.R394Q Substitution - Missense 7:151368820-151368820 + Pat_63_A COSM4360972 c.1282G>A p.V428M Substitution - Missense 7:151368849-151368849 + TCGA-GI-A2C8-01 COSM5232104 c.1443C>T p.S481S Substitution - coding silent 7:151374219-151374219 + BD236T COSM5518817 c.1577C>T p.S526L Substitution - Missense 7:151376761-151376761 + TCGA-A6-6653-01 COSM1449334 c.768G>A p.L256L Substitution - coding silent 7:151360215-151360215 + 575 COSM3722835 c.775C>G p.L259V Substitution - Missense 7:151360222-151360222 + CSCC-27-T COSM4516055 c.1430_1431CC>TT p.S477F Substitution - Missense 7:151375924-151375925 + STC246 COSM5062309 c.1755C>A p.A585A Substitution - coding silent 7:151377060-151377060 + SNUH_G76_S1 COSM1449335 c.840C>T p.Y280Y Substitution - coding silent 7:151366978-151366978 + KM12 COSM3262080 c.279delA p.D96fs*17 Deletion - Frameshift 7:151349234-151349234 + ML3 COSM1165515 c.18T>A p.Y6* Substitution - Nonsense 7:151345367-151345367 + NCI-H835 COSM4360982 c.1639G>A p.A547T Substitution - Missense 7:151376709-151376709 + ESCC_18 COSM5626160 c.1276G>A p.G426R Substitution - Missense 7:151368843-151368843 + TCGA-A6-6653-01 COSM5092328 c.840G>A p.L280L Substitution - coding silent 7:151360215-151360215 + TCGA-BR-7851-01 COSM3832324 c.495G>A p.A165A Substitution - coding silent 7:151355847-151355847 + PD11745a COSM5783160 c.1803C>G p.N601K Substitution - Missense 7:151377222-151377222 + HCT15 COSM4360976 c.1491G>A p.M497I Substitution - Missense 7:151375871-151375871 + SC_9072 COSM5553551 c.1483G>A p.E495K Substitution - Missense 7:151376667-151376667 + PM-5 COSM5620040 c.962A>C p.N321T Substitution - Missense 7:151367100-151367100 + sysucc-1163T COSM5459302 c.125A>G p.D42G Substitution - Missense 7:151345402-151345402 + TCGA-BR-4361-01 COSM3879454 c.1764A>G p.L588L Substitution - coding silent 7:151377183-151377183 + sysucc-1163T COSM5459303 c.53A>G p.D18G Substitution - Missense 7:151345402-151345402 + WSU-HN6 COSM4161974 c.25C>T p.R9C Substitution - Missense 7:151341801-151341801 + T3090 COSM4338518 c.351delA p.D120fs*17 Deletion - Frameshift 7:151349234-151349234 + SNU-175 COSM3262112 c.1607C>T p.T536M Substitution - Missense 7:151376791-151376791 + TCGA-BS-A0UF-01 COSM1087445 c.1289G>T p.R430I Substitution - Missense 7:151374137-151374137 + BD135T COSM5516418 c.1290T>C p.H430H Substitution - coding silent 7:151368857-151368857 + TCGA-B5-A11E-01 COSM1087443 c.807T>G p.C269W Substitution - Missense 7:151366945-151366945 + BD72T COSM5512471 c.842C>T p.A281V Substitution - Missense 7:151366980-151366980 + TCGA-CM-5341-01 COSM1449333 c.719A>T p.H240L Substitution - Missense 7:151360166-151360166 + YUJUBE COSM5407017 c.849C>A p.L283L Substitution - coding silent 7:151366987-151366987 + YUHAMA COSM5407020 c.1712C>T p.P571L Substitution - Missense 7:151376782-151376782 + PT36 COSM5915697 c.766-5C>T p.? Unknown 7:151360136-151360136 + TCGA-EE-A182-06 COSM3636378 c.1547G>A p.G516E Substitution - Missense 7:151376731-151376731 + TCGA-DA-A1IC-06 COSM3262088 c.631C>T p.P211S Substitution - Missense 7:151356160-151356160 + LUAD-S01315 COSM345942 c.177A>T p.V59V Substitution - coding silent 7:151349132-151349132 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.647082 7q36 607981 2430606|CGAP|BC046354|A/G|non-coding||2806|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y77C c.230A>G 7 151046271 CM A G Synonymous p.E50E c.150A>G 7 151046191 CM C A Missense p.A2E c.5C>A 7 151042440 RCCC C A Missense p.P521T c.1561C>A 7 151073831 BLCA C A Missense p.Q478K c.1432C>A 7 151073012 CM C G IntronicSNV . c.1450-4C>G 7 151073716 STAD C T IntronicSNV . c.1353+18C>T 7 151071305 BRCA C T IntronicSNV . c.1449+107C>T 7 151073136 CM C T Missense p.P211S c.631C>T 7 151053246 CM C T Synonymous p.F169F c.507C>T 7 151052945 CM C T Synonymous p.L340L c.1018C>T 7 151064977 CM C T Synonymous p.S537S c.1611C>T 7 151073881 CM G A Missense p.G516E c.1547G>A 7 151073817 CM G A Missense p.R367H c.1100G>A 7 151065825 CM G A Missense p.R414H c.1241G>A 7 151065966 GBM G A Missense p.V558I c.1672G>A 7 151074177 LUAD G A Synonymous p.A407A c.1221G>A 7 151065946 UCEC G A Synonymous p.L577L c.1731G>A 7 151074236 CM G C Missense p.E335D c.1005G>C 7 151064964 BRCA G C Missense p.E50Q c.148G>C 7 151046189 LUAD G C Missense p.E528Q c.1582G>C 7 151073852 HNSC G C Missense p.W460S c.1379G>C 7 151072959 ESCA G - Frameshift p.V326Sfs*3 c.976delG 7 151064199 LUAD GG AA Missense p.G73K c.217_218delinsAA 7 151046258 CM G T Missense p.G71V c.212G>T 7 151046253 BRCA