Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 1720546 1720547 + Missense_Mutation DNP CA CA AC TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr1:1720546_1720547CA>AC c.861_862TG>GT c.(859-864)gcTGgg>gcGTgg p.G288W ACC 1 1747196 1747196 + Splice_Site SNP T T G TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:1747196T>G c.202A>C c.(202-204)Agg>Cgg p.R68R BLCA 1 1720630 1720630 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:1720630C>T c.778G>A c.(778-780)Gag>Aag p.E260K BLCA 1 1720636 1720636 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:1720636C>T c.772G>A c.(772-774)Gac>Aac p.D258N BLCA 1 1721920 1721920 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:1721920C>T c.613G>A c.(613-615)Gat>Aat p.D205N BLCA 1 1737960 1737960 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr1:1737960G>A c.221C>T c.(220-222)tCg>tTg p.S74L BLCA 1 1749278 1749278 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr1:1749278G>T c.94C>A c.(94-96)Cag>Aag p.Q32K BRCA 1 1720602 1720602 + Missense_Mutation SNP A A G TCGA-BH-A0HN-01A-11D-A099-09 TCGA-BH-A0HN-10A-01D-A099-09 g.chr1:1720602A>G c.806T>C c.(805-807)aTc>aCc p.I269T BRCA 1 1747243 1747243 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:1747243C>T c.155G>A c.(154-156)cGg>cAg p.R52Q CESC 1 1736005 1736005 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 g.chr1:1736005G>C c.283C>G c.(283-285)Ctg>Gtg p.L95V COAD 1 1718847 1718847 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:1718847T>C c.946A>G c.(946-948)Agc>Ggc p.S316G COAD 1 1720623 1720623 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:1720623A>G c.785T>C c.(784-786)aTg>aCg p.M262T COAD 1 1721936 1721936 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:1721936G>A c.597C>T c.(595-597)ttC>ttT p.F199F COAD 1 1721939 1721939 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:1721939C>T c.594G>A c.(592-594)ctG>ctA p.L198L COAD 1 1722014 1722014 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:1722014G>A c.519C>T c.(517-519)acC>acT p.T173T COAD 1 1736001 1736001 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:1736001C>T c.287G>A c.(286-288)cGc>cAc p.R96H COAD 1 1747287 1747287 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:1747287G>A c.111C>T c.(109-111)atC>atT p.I37I COADREAD 1 1718847 1718847 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:1718847T>C c.946A>G c.(946-948)Agc>Ggc p.S316G COADREAD 1 1720623 1720623 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:1720623A>G c.785T>C c.(784-786)aTg>aCg p.M262T COADREAD 1 1721936 1721936 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:1721936G>A c.597C>T c.(595-597)ttC>ttT p.F199F COADREAD 1 1721939 1721939 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:1721939C>T c.594G>A c.(592-594)ctG>ctA p.L198L COADREAD 1 1722014 1722014 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:1722014G>A c.519C>T c.(517-519)acC>acT p.T173T COADREAD 1 1736001 1736001 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:1736001C>T c.287G>A c.(286-288)cGc>cAc p.R96H COADREAD 1 1747287 1747287 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:1747287G>A c.111C>T c.(109-111)atC>atT p.I37I ESCA 1 1720538 1720538 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:1720538G>A c.870C>T c.(868-870)gaC>gaT p.D290D GBM 1 1720568 1720568 + Missense_Mutation SNP C C A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr1:1720568C>A c.840G>T c.(838-840)aaG>aaT p.K280N GBMLGG 1 1720568 1720568 + Missense_Mutation SNP C C A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr1:1720568C>A c.840G>T c.(838-840)aaG>aaT p.K280N GBMLGG 1 1722020 1722020 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1722020G>A c.513C>T c.(511-513)atC>atT p.I171I HNSC 1 1720641 1720641 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 g.chr1:1720641C>T c.767G>A c.(766-768)cGt>cAt p.R256H HNSC 1 1721839 1721839 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:1721839T>C c.694A>G c.(694-696)Att>Gtt p.I232V HNSC 1 1721851 1721851 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr1:1721851C>T c.682G>A c.(682-684)Gac>Aac p.D228N KIPAN 1 1720557 1720557 + Missense_Mutation SNP A A C TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr1:1720557A>C c.851T>G c.(850-852)cTc>cGc p.L284R KIPAN 1 1749311 1749311 + Missense_Mutation SNP C C A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr1:1749311C>A c.61G>T c.(61-63)Gcc>Tcc p.A21S KIRC 1 1749311 1749311 + Missense_Mutation SNP C C A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr1:1749311C>A c.61G>T c.(61-63)Gcc>Tcc p.A21S KIRP 1 1720557 1720557 + Missense_Mutation SNP A A C TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr1:1720557A>C c.851T>G c.(850-852)cTc>cGc p.L284R LAML 1 1747228 1747228 + Missense_Mutation SNP T T G TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 g.chr1:1747228T>G c.170A>C c.(169-171)aAg>aCg p.K57T LGG 1 1722020 1722020 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1722020G>A c.513C>T c.(511-513)atC>atT p.I171I LIHC 1 1720616 1720617 + Frame_Shift_Ins INS - - T TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr1:1720616_1720617insT c.791_792insA c.(790-792)tacfs p.Y264fs LIHC 1 1721974 1721974 + Missense_Mutation SNP C C A TCGA-BC-A8YO-01A-11D-A36X-10 TCGA-BC-A8YO-10A-01D-A370-10 g.chr1:1721974C>A c.559G>T c.(559-561)Gtc>Ttc p.V187F LUAD 1 1720625 1720625 + Silent SNP G G A TCGA-55-6972-01A-11D-1945-08 TCGA-55-6972-11A-01D-1945-08 g.chr1:1720625G>A c.783C>T c.(781-783)ctC>ctT p.L261L LUAD 1 1721833 1721833 + Splice_Site SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr1:1721833C>G c.e9+1 LUAD 1 1721961 1721961 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr1:1721961G>C c.572C>G c.(571-573)tCt>tGt p.S191C LUSC 1 1756837 1756837 + Splice_Site SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:1756837C>A c.56G>T c.(55-57)cGa>cTa p.R19L OV 1 1735946 1735946 + Silent SNP G G A TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 g.chr1:1735946G>A c.342C>T c.(340-342)tgC>tgT p.C114C PAAD 1 1718817 1718817 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:1718817C>T c.976G>A c.(976-978)Gct>Act p.A326T PAAD 1 1722012 1722012 + Missense_Mutation SNP C C T TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr1:1722012C>T c.521G>A c.(520-522)gGc>gAc p.G174D PRAD 1 1720558 1720558 + Missense_Mutation SNP G G T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:1720558G>T c.850C>A c.(850-852)Ctc>Atc p.L284I PRAD 1 1722002 1722002 + Silent SNP C C T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 g.chr1:1722002C>T c.531G>A c.(529-531)acG>acA p.T177T SKCM 1 1720551 1720551 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:1720551A>C c.857T>G c.(856-858)cTt>cGt p.L286R SKCM 1 1721867 1721867 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:1721867G>A c.666C>T c.(664-666)ttC>ttT p.F222F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 1721903 1721903 single base substitution G C downstream_gene_variant BLCA-CN 1 1721903 1721903 single base substitution G C exon_variant BLCA-CN 1 1721903 1721903 single base substitution G C synonymous_variant L210L 630C>G BLCA-US 1 1720630 1720630 single base substitution C T downstream_gene_variant BLCA-US 1 1720630 1720630 single base substitution C T exon_variant BLCA-US 1 1720630 1720630 single base substitution C T missense_variant E260K 778G>A BLCA-US 1 1720636 1720636 single base substitution C T downstream_gene_variant BLCA-US 1 1720636 1720636 single base substitution C T exon_variant BLCA-US 1 1720636 1720636 single base substitution C T missense_variant D258N 772G>A BLCA-US 1 1721920 1721920 single base substitution C T downstream_gene_variant BLCA-US 1 1721920 1721920 single base substitution C T exon_variant BLCA-US 1 1721920 1721920 single base substitution C T missense_variant D205N 613G>A BLCA-US 1 1749278 1749278 single base substitution G T exon_variant BLCA-US 1 1749278 1749278 single base substitution G T intron_variant BLCA-US 1 1749278 1749278 single base substitution G T missense_variant Q32K 94C>A BLCA-US 1 1756890 1756890 single base substitution C A exon_variant BLCA-US 1 1756890 1756890 single base substitution C A start_lost M1I 3G>T BOCA-FR 1 1749280 1749280 single base substitution G C exon_variant BOCA-FR 1 1749280 1749280 single base substitution G C intron_variant BOCA-FR 1 1749280 1749280 single base substitution G C missense_variant S31C 92C>G BRCA-EU 1 1712007 1712007 single base substitution C T downstream_gene_variant BRCA-EU 1 1716374 1716374 single base substitution C G downstream_gene_variant BRCA-EU 1 1717473 1717473 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 1717473 1717473 single base substitution A C downstream_gene_variant BRCA-EU 1 1720652 1720652 single base substitution C T downstream_gene_variant BRCA-EU 1 1720652 1720652 single base substitution C T exon_variant BRCA-EU 1 1720652 1720652 single base substitution C T synonymous_variant L252L 756G>A BRCA-EU 1 1722356 1722356 single base substitution T G downstream_gene_variant BRCA-EU 1 1722356 1722356 single base substitution T G intron_variant BRCA-EU 1 1724669 1724669 single base substitution G A downstream_gene_variant BRCA-EU 1 1724669 1724669 single base substitution G A intron_variant BRCA-EU 1 1724892 1724892 single base substitution C T exon_variant BRCA-EU 1 1724892 1724892 single base substitution C T intron_variant BRCA-EU 1 1724960 1724960 single base substitution C T exon_variant BRCA-EU 1 1724960 1724960 single base substitution C T intron_variant BRCA-EU 1 1724990 1724990 single base substitution G C exon_variant BRCA-EU 1 1724990 1724990 single base substitution G C intron_variant BRCA-EU 1 1725950 1725950 single base substitution C T intron_variant BRCA-EU 1 1725950 1725950 single base substitution C T upstream_gene_variant BRCA-EU 1 1726116 1726116 single base substitution T C intron_variant BRCA-EU 1 1726116 1726116 single base substitution T C upstream_gene_variant BRCA-EU 1 1728136 1728136 single base substitution C G intron_variant BRCA-EU 1 1728136 1728136 single base substitution C G upstream_gene_variant BRCA-EU 1 1729995 1729995 single base substitution A T intron_variant BRCA-EU 1 1729995 1729995 single base substitution A T upstream_gene_variant BRCA-EU 1 1731387 1731387 single base substitution G A downstream_gene_variant BRCA-EU 1 1731387 1731387 single base substitution G A intron_variant BRCA-EU 1 1732448 1732448 single base substitution C G downstream_gene_variant BRCA-EU 1 1732448 1732448 single base substitution C G intron_variant BRCA-EU 1 1735784 1735784 single base substitution G A downstream_gene_variant BRCA-EU 1 1735784 1735784 single base substitution G A intron_variant BRCA-EU 1 1736568 1736568 single base substitution T A intron_variant BRCA-EU 1 1737091 1737091 single base substitution T A intron_variant BRCA-EU 1 1739128 1739128 single base substitution C T intron_variant BRCA-EU 1 1739439 1739439 single base substitution C T intron_variant BRCA-EU 1 1741516 1741516 deletion of <=200bp T - intron_variant BRCA-EU 1 1744622 1744622 single base substitution C G intron_variant BRCA-EU 1 1744709 1744709 single base substitution G T intron_variant BRCA-EU 1 1747359 1747359 single base substitution C T intron_variant BRCA-EU 1 1748244 1748244 single base substitution T C intron_variant BRCA-EU 1 1748848 1748848 single base substitution G A intron_variant BRCA-EU 1 1748980 1748980 single base substitution G C intron_variant BRCA-EU 1 1750435 1750435 single base substitution C T intron_variant BRCA-EU 1 1750435 1750435 single base substitution C T upstream_gene_variant BRCA-EU 1 1752535 1752535 single base substitution T A downstream_gene_variant BRCA-EU 1 1752535 1752535 single base substitution T A intron_variant BRCA-EU 1 1752535 1752535 single base substitution T A upstream_gene_variant BRCA-EU 1 1753271 1753271 single base substitution T A downstream_gene_variant BRCA-EU 1 1753271 1753271 single base substitution T A intron_variant BRCA-EU 1 1753271 1753271 single base substitution T A upstream_gene_variant BRCA-EU 1 1755777 1755777 single base substitution T A downstream_gene_variant BRCA-EU 1 1755777 1755777 single base substitution T A intron_variant BRCA-EU 1 1755945 1755945 single base substitution T G downstream_gene_variant BRCA-EU 1 1755945 1755945 single base substitution T G intron_variant BRCA-EU 1 1757524 1757524 insertion of <=200bp - A intron_variant BRCA-EU 1 1757524 1757524 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 1757529 1757529 single base substitution A C intron_variant BRCA-EU 1 1757529 1757529 single base substitution A C upstream_gene_variant BRCA-EU 1 1758405 1758405 single base substitution A G intron_variant BRCA-EU 1 1758405 1758405 single base substitution A G upstream_gene_variant BRCA-EU 1 1758572 1758585 deletion of <=200bp ATCTGTGGGAAACT - intron_variant BRCA-EU 1 1758572 1758585 deletion of <=200bp ATCTGTGGGAAACT - upstream_gene_variant BRCA-EU 1 1759584 1759584 single base substitution A G intron_variant BRCA-EU 1 1759584 1759584 single base substitution A G upstream_gene_variant BRCA-EU 1 1761197 1761197 single base substitution G C intron_variant BRCA-EU 1 1761197 1761197 single base substitution G C upstream_gene_variant BRCA-EU 1 1762363 1762363 single base substitution G C intron_variant BRCA-EU 1 1763927 1763927 single base substitution G C intron_variant BRCA-EU 1 1763927 1763927 single base substitution G C upstream_gene_variant BRCA-EU 1 1763938 1763938 single base substitution G C intron_variant BRCA-EU 1 1763938 1763938 single base substitution G C upstream_gene_variant BRCA-EU 1 1763961 1763961 single base substitution G A intron_variant BRCA-EU 1 1763961 1763961 single base substitution G A upstream_gene_variant BRCA-EU 1 1764027 1764027 single base substitution C G intron_variant BRCA-EU 1 1764027 1764027 single base substitution C G upstream_gene_variant BRCA-EU 1 1764150 1764150 single base substitution C T intron_variant BRCA-EU 1 1764150 1764150 single base substitution C T upstream_gene_variant BRCA-EU 1 1766085 1766085 single base substitution G C intron_variant BRCA-EU 1 1766085 1766085 single base substitution G C upstream_gene_variant BRCA-EU 1 1766196 1766196 single base substitution C A intron_variant BRCA-EU 1 1766196 1766196 single base substitution C A upstream_gene_variant BRCA-EU 1 1767214 1767214 single base substitution T G intron_variant BRCA-EU 1 1767214 1767214 single base substitution T G upstream_gene_variant BRCA-EU 1 1770069 1770069 single base substitution G C intron_variant BRCA-EU 1 1770695 1770695 single base substitution G C intron_variant BRCA-EU 1 1771115 1771115 single base substitution A G 5_prime_UTR_variant BRCA-EU 1 1771115 1771115 single base substitution A G intron_variant BRCA-EU 1 1771276 1771276 single base substitution G C intron_variant BRCA-EU 1 1772466 1772466 single base substitution G A intron_variant BRCA-EU 1 1774502 1774502 single base substitution C T intron_variant BRCA-EU 1 1777393 1777393 single base substitution A G intron_variant BRCA-EU 1 1777614 1777614 deletion of <=200bp A - intron_variant BRCA-EU 1 1777741 1777741 single base substitution C A intron_variant BRCA-EU 1 1778841 1778841 single base substitution C A intron_variant BRCA-EU 1 1780421 1780421 single base substitution G A intron_variant BRCA-EU 1 1780438 1780438 single base substitution G A intron_variant BRCA-EU 1 1780482 1780482 single base substitution T C intron_variant BRCA-EU 1 1782169 1782169 single base substitution C T intron_variant BRCA-EU 1 1782616 1782616 single base substitution G A intron_variant BRCA-EU 1 1784337 1784337 single base substitution C T intron_variant BRCA-EU 1 1785929 1785929 insertion of <=200bp - A intron_variant BRCA-EU 1 1787424 1787424 single base substitution C T intron_variant BRCA-EU 1 1787734 1787734 deletion of <=200bp T - intron_variant BRCA-EU 1 1787760 1787760 single base substitution G A intron_variant BRCA-EU 1 1791496 1791496 insertion of <=200bp - A intron_variant BRCA-EU 1 1793765 1793765 single base substitution C T intron_variant BRCA-EU 1 1795824 1795824 single base substitution G C intron_variant BRCA-EU 1 1797444 1797444 single base substitution G A intron_variant BRCA-EU 1 1797867 1797867 single base substitution T A intron_variant BRCA-EU 1 1798687 1798687 single base substitution A C intron_variant BRCA-EU 1 1798899 1798899 single base substitution G T intron_variant BRCA-EU 1 1802551 1802551 single base substitution G A intron_variant BRCA-EU 1 1803184 1803184 single base substitution C T intron_variant BRCA-EU 1 1803273 1803273 single base substitution T A intron_variant BRCA-EU 1 1805108 1805108 single base substitution G A intron_variant BRCA-EU 1 1805620 1805620 single base substitution C T intron_variant BRCA-EU 1 1806244 1806244 deletion of <=200bp A - intron_variant BRCA-EU 1 1806969 1806969 single base substitution A G intron_variant BRCA-EU 1 1807751 1807751 deletion of <=200bp T - intron_variant BRCA-EU 1 1810103 1810103 single base substitution C G intron_variant BRCA-EU 1 1810637 1810637 single base substitution C A intron_variant BRCA-EU 1 1811131 1811131 single base substitution G C intron_variant BRCA-EU 1 1812008 1812008 single base substitution G C intron_variant BRCA-EU 1 1812035 1812035 deletion of <=200bp T - intron_variant BRCA-EU 1 1812988 1812988 single base substitution G A intron_variant BRCA-EU 1 1813250 1813250 single base substitution G A intron_variant BRCA-EU 1 1813996 1813996 single base substitution G C intron_variant BRCA-EU 1 1814171 1814171 single base substitution C T intron_variant BRCA-EU 1 1815074 1815074 single base substitution C T intron_variant BRCA-EU 1 1817601 1817601 single base substitution T A intron_variant BRCA-EU 1 1817740 1817740 single base substitution G C intron_variant BRCA-EU 1 1820515 1820515 single base substitution C T intron_variant BRCA-EU 1 1822740 1822740 single base substitution G C upstream_gene_variant BRCA-EU 1 1823340 1823340 single base substitution C T upstream_gene_variant BRCA-EU 1 1826246 1826246 single base substitution G C upstream_gene_variant BRCA-FR 1 1732230 1732230 single base substitution G C downstream_gene_variant BRCA-FR 1 1732230 1732230 single base substitution G C intron_variant BRCA-FR 1 1740477 1740477 single base substitution C G intron_variant BRCA-FR 1 1748980 1748980 single base substitution G C intron_variant BRCA-FR 1 1762363 1762363 single base substitution G C intron_variant BRCA-FR 1 1763927 1763927 single base substitution G C intron_variant BRCA-FR 1 1763927 1763927 single base substitution G C upstream_gene_variant BRCA-FR 1 1763938 1763938 single base substitution G C intron_variant BRCA-FR 1 1763938 1763938 single base substitution G C upstream_gene_variant BRCA-FR 1 1763961 1763961 single base substitution G A intron_variant BRCA-FR 1 1763961 1763961 single base substitution G A upstream_gene_variant BRCA-FR 1 1770069 1770069 single base substitution G C intron_variant BRCA-FR 1 1771276 1771276 single base substitution G C intron_variant BRCA-FR 1 1774502 1774502 single base substitution C T intron_variant BRCA-FR 1 1777741 1777741 single base substitution C A intron_variant BRCA-FR 1 1793598 1793598 single base substitution T C intron_variant BRCA-FR 1 1806969 1806969 single base substitution A G intron_variant BRCA-UK 1 1764027 1764027 single base substitution C G intron_variant BRCA-UK 1 1764027 1764027 single base substitution C G upstream_gene_variant BRCA-US 1 1720602 1720602 single base substitution A G downstream_gene_variant BRCA-US 1 1720602 1720602 single base substitution A G exon_variant BRCA-US 1 1720602 1720602 single base substitution A G missense_variant I269T 806T>C BRCA-US 1 1747243 1747243 single base substitution C T exon_variant BRCA-US 1 1747243 1747243 single base substitution C T missense_variant R39Q 116G>A BRCA-US 1 1747243 1747243 single base substitution C T missense_variant R52Q 155G>A BTCA-JP 1 1718788 1718788 single base substitution G A downstream_gene_variant BTCA-JP 1 1718788 1718788 single base substitution G A synonymous_variant F335F 1005C>T BTCA-JP 1 1720573 1720575 deletion of <=200bp AGA - disruptive_inframe_deletion FS278S BTCA-JP 1 1720573 1720575 deletion of <=200bp AGA - downstream_gene_variant BTCA-JP 1 1720573 1720575 deletion of <=200bp AGA - exon_variant BTCA-JP 1 1749361 1749361 single base substitution C A exon_variant BTCA-JP 1 1749361 1749361 single base substitution C A intron_variant CESC-US 1 1736005 1736005 single base substitution G C exon_variant CESC-US 1 1736005 1736005 single base substitution G C missense_variant L82V 244C>G CESC-US 1 1736005 1736005 single base substitution G C missense_variant L95V 283C>G CESC-US 1 1823744 1823744 single base substitution C G upstream_gene_variant CESC-US 1 1823929 1823929 single base substitution C T upstream_gene_variant CLLE-ES 1 1719627 1719627 single base substitution G T downstream_gene_variant CLLE-ES 1 1719627 1719627 single base substitution G T exon_variant CLLE-ES 1 1719627 1719627 single base substitution G T intron_variant CLLE-ES 1 1737942 1737942 single base substitution A G exon_variant CLLE-ES 1 1737942 1737942 single base substitution A G missense_variant I67T 200T>C CLLE-ES 1 1737942 1737942 single base substitution A G missense_variant I80T 239T>C CLLE-ES 1 1756579 1756579 single base substitution T A exon_variant CLLE-ES 1 1756579 1756579 single base substitution T A intron_variant CLLE-ES 1 1770184 1770184 single base substitution T C intron_variant CLLE-ES 1 1785541 1785541 single base substitution C T intron_variant COAD-US 1 1721939 1721939 single base substitution C T downstream_gene_variant COAD-US 1 1721939 1721939 single base substitution C T exon_variant COAD-US 1 1721939 1721939 single base substitution C T synonymous_variant L198L 594G>A COAD-US 1 1722014 1722014 single base substitution G A downstream_gene_variant COAD-US 1 1722014 1722014 single base substitution G A exon_variant COAD-US 1 1722014 1722014 single base substitution G A synonymous_variant T160T 480C>T COAD-US 1 1722014 1722014 single base substitution G A synonymous_variant T173T 519C>T COAD-US 1 1736001 1736001 single base substitution C T exon_variant COAD-US 1 1736001 1736001 single base substitution C T missense_variant R83H 248G>A COAD-US 1 1736001 1736001 single base substitution C T missense_variant R96H 287G>A COAD-US 1 1747287 1747287 single base substitution G A exon_variant COAD-US 1 1747287 1747287 single base substitution G A synonymous_variant I24I 72C>T COAD-US 1 1747287 1747287 single base substitution G A synonymous_variant I37I 111C>T COCA-CN 1 1715011 1715011 single base substitution C A downstream_gene_variant COCA-CN 1 1730379 1730379 single base substitution G T intron_variant COCA-CN 1 1730379 1730379 single base substitution G T upstream_gene_variant COCA-CN 1 1747347 1747347 single base substitution G A intron_variant COCA-CN 1 1748913 1748913 single base substitution A T intron_variant COCA-CN 1 1749218 1749218 single base substitution G T exon_variant COCA-CN 1 1749218 1749218 single base substitution G T intron_variant COCA-CN 1 1756760 1756760 single base substitution C A exon_variant COCA-CN 1 1756760 1756760 single base substitution C A intron_variant COCA-CN 1 1757019 1757019 single base substitution T G intron_variant COCA-CN 1 1757019 1757019 single base substitution T G upstream_gene_variant COCA-CN 1 1767361 1767361 single base substitution G A intron_variant COCA-CN 1 1767361 1767361 single base substitution G A upstream_gene_variant COCA-CN 1 1769902 1769902 single base substitution G T intron_variant COCA-CN 1 1808749 1808749 single base substitution A T intron_variant COCA-CN 1 1815622 1815622 single base substitution G A intron_variant COCA-CN 1 1823483 1823483 single base substitution C T upstream_gene_variant COCA-CN 1 1823834 1823834 single base substitution G A upstream_gene_variant COCA-CN 1 1823874 1823874 single base substitution A G upstream_gene_variant EOPC-DE 1 1750071 1750071 single base substitution G A intron_variant EOPC-DE 1 1750071 1750071 single base substitution G A upstream_gene_variant ESAD-UK 1 1711829 1711829 single base substitution C A downstream_gene_variant ESAD-UK 1 1712682 1712682 single base substitution G A downstream_gene_variant ESAD-UK 1 1713768 1713768 single base substitution C G downstream_gene_variant ESAD-UK 1 1714053 1714053 single base substitution C G downstream_gene_variant ESAD-UK 1 1714209 1714209 single base substitution A T downstream_gene_variant ESAD-UK 1 1714465 1714465 single base substitution C T downstream_gene_variant ESAD-UK 1 1714556 1714556 single base substitution T G downstream_gene_variant ESAD-UK 1 1714561 1714561 single base substitution G C downstream_gene_variant ESAD-UK 1 1714672 1714672 single base substitution C G downstream_gene_variant ESAD-UK 1 1714923 1714923 single base substitution C T downstream_gene_variant ESAD-UK 1 1715494 1715494 single base substitution G A downstream_gene_variant ESAD-UK 1 1719731 1719731 single base substitution G A downstream_gene_variant ESAD-UK 1 1719731 1719731 single base substitution G A exon_variant ESAD-UK 1 1719731 1719731 single base substitution G A intron_variant ESAD-UK 1 1721095 1721095 single base substitution T C downstream_gene_variant ESAD-UK 1 1721095 1721095 single base substitution T C intron_variant ESAD-UK 1 1723302 1723302 single base substitution C G downstream_gene_variant ESAD-UK 1 1723302 1723302 single base substitution C G intron_variant ESAD-UK 1 1723952 1723952 single base substitution G A downstream_gene_variant ESAD-UK 1 1723952 1723952 single base substitution G A intron_variant ESAD-UK 1 1725592 1725592 deletion of <=200bp C - exon_variant ESAD-UK 1 1725592 1725592 deletion of <=200bp C - intron_variant ESAD-UK 1 1728975 1728975 single base substitution T A intron_variant ESAD-UK 1 1728975 1728975 single base substitution T A upstream_gene_variant ESAD-UK 1 1732865 1732865 single base substitution C T downstream_gene_variant ESAD-UK 1 1732865 1732865 single base substitution C T intron_variant ESAD-UK 1 1734311 1734311 single base substitution C G downstream_gene_variant ESAD-UK 1 1734311 1734311 single base substitution C G intron_variant ESAD-UK 1 1734497 1734497 single base substitution A C downstream_gene_variant ESAD-UK 1 1734497 1734497 single base substitution A C intron_variant ESAD-UK 1 1736483 1736483 single base substitution T C intron_variant ESAD-UK 1 1736862 1736862 single base substitution T G intron_variant ESAD-UK 1 1738280 1738280 single base substitution G T intron_variant ESAD-UK 1 1738393 1738394 deletion of <=200bp AC - intron_variant ESAD-UK 1 1739183 1739183 single base substitution G T intron_variant ESAD-UK 1 1741077 1741077 single base substitution C G intron_variant ESAD-UK 1 1741518 1741518 single base substitution T A intron_variant ESAD-UK 1 1741612 1741612 single base substitution C A intron_variant ESAD-UK 1 1741662 1741662 single base substitution G A intron_variant ESAD-UK 1 1742395 1742395 single base substitution C T intron_variant ESAD-UK 1 1742524 1742524 single base substitution T A intron_variant ESAD-UK 1 1742525 1742525 single base substitution T A intron_variant ESAD-UK 1 1744689 1744689 single base substitution G A intron_variant ESAD-UK 1 1746375 1746375 single base substitution C A intron_variant ESAD-UK 1 1753912 1753913 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 1 1753912 1753913 deletion of <=200bp TT - intron_variant ESAD-UK 1 1753912 1753913 deletion of <=200bp TT - upstream_gene_variant ESAD-UK 1 1754772 1754772 insertion of <=200bp - C downstream_gene_variant ESAD-UK 1 1754772 1754772 insertion of <=200bp - C intron_variant ESAD-UK 1 1754772 1754772 insertion of <=200bp - C upstream_gene_variant ESAD-UK 1 1757148 1757148 deletion of <=200bp A - intron_variant ESAD-UK 1 1757148 1757148 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 1759044 1759044 single base substitution G A intron_variant ESAD-UK 1 1759044 1759044 single base substitution G A upstream_gene_variant ESAD-UK 1 1761386 1761386 single base substitution C T intron_variant ESAD-UK 1 1761386 1761386 single base substitution C T upstream_gene_variant ESAD-UK 1 1764061 1764061 single base substitution G A intron_variant ESAD-UK 1 1764061 1764061 single base substitution G A upstream_gene_variant ESAD-UK 1 1764605 1764605 single base substitution G A intron_variant ESAD-UK 1 1764605 1764605 single base substitution G A upstream_gene_variant ESAD-UK 1 1765372 1765372 single base substitution G A intron_variant ESAD-UK 1 1765372 1765372 single base substitution G A upstream_gene_variant ESAD-UK 1 1769413 1769432 deletion of <=200bp GGGTGGATCACCTGAGGTCA - intron_variant ESAD-UK 1 1769954 1769954 insertion of <=200bp - GCTCACT intron_variant ESAD-UK 1 1771786 1771786 single base substitution T C intron_variant ESAD-UK 1 1772044 1772044 single base substitution C T intron_variant ESAD-UK 1 1772720 1772720 single base substitution C A intron_variant ESAD-UK 1 1773011 1773011 single base substitution C T intron_variant ESAD-UK 1 1781760 1781760 single base substitution G A intron_variant ESAD-UK 1 1782290 1782290 single base substitution T C intron_variant ESAD-UK 1 1787760 1787760 single base substitution G A intron_variant ESAD-UK 1 1788934 1788934 single base substitution G A intron_variant ESAD-UK 1 1789341 1789341 single base substitution C T intron_variant ESAD-UK 1 1789965 1789965 deletion of <=200bp C - intron_variant ESAD-UK 1 1794642 1794642 single base substitution G C intron_variant ESAD-UK 1 1796550 1796550 single base substitution A C intron_variant ESAD-UK 1 1796620 1796620 single base substitution G A intron_variant ESAD-UK 1 1799689 1799689 single base substitution G A intron_variant ESAD-UK 1 1800496 1800496 single base substitution G T intron_variant ESAD-UK 1 1801883 1801883 single base substitution G C intron_variant ESAD-UK 1 1802183 1802183 single base substitution G C intron_variant ESAD-UK 1 1804624 1804624 single base substitution G A intron_variant ESAD-UK 1 1811045 1811045 single base substitution G A intron_variant ESAD-UK 1 1813821 1813821 single base substitution C G intron_variant ESAD-UK 1 1815530 1815530 single base substitution G A intron_variant ESAD-UK 1 1825162 1825162 single base substitution T G upstream_gene_variant ESAD-UK 1 1825765 1825765 single base substitution C G upstream_gene_variant ESAD-UK 1 1825766 1825766 single base substitution C T upstream_gene_variant ESAD-UK 1 1825882 1825882 single base substitution T G upstream_gene_variant ESAD-UK 1 1826362 1826362 single base substitution A C upstream_gene_variant ESAD-UK 1 1826599 1826599 single base substitution T G upstream_gene_variant ESCA-CN 1 1721878 1721878 single base substitution G A downstream_gene_variant ESCA-CN 1 1721878 1721878 single base substitution G A exon_variant ESCA-CN 1 1721878 1721878 single base substitution G A missense_variant R219W 655C>T GBM-US 1 1720568 1720568 single base substitution C A downstream_gene_variant GBM-US 1 1720568 1720568 single base substitution C A exon_variant GBM-US 1 1720568 1720568 single base substitution C A missense_variant K280N 840G>T KIRC-US 1 1749311 1749311 single base substitution C A exon_variant KIRC-US 1 1749311 1749311 single base substitution C A intron_variant KIRC-US 1 1749311 1749311 single base substitution C A missense_variant A21S 61G>T KIRP-US 1 1720557 1720557 single base substitution A C downstream_gene_variant KIRP-US 1 1720557 1720557 single base substitution A C exon_variant KIRP-US 1 1720557 1720557 single base substitution A C missense_variant L284R 851T>G LAML-KR 1 1715453 1715453 single base substitution G A downstream_gene_variant LAML-KR 1 1743362 1743362 single base substitution A G intron_variant LAML-KR 1 1747229 1747229 single base substitution T C exon_variant LAML-KR 1 1747229 1747229 single base substitution T C missense_variant K44E 130A>G LAML-KR 1 1747229 1747229 single base substitution T C missense_variant K57E 169A>G LAML-KR 1 1769902 1769902 single base substitution G T intron_variant LAML-KR 1 1777281 1777281 single base substitution C G intron_variant LICA-FR 1 1713826 1713826 single base substitution C A downstream_gene_variant LICA-FR 1 1737949 1737949 single base substitution T C exon_variant LICA-FR 1 1737949 1737949 single base substitution T C missense_variant K65E 193A>G LICA-FR 1 1737949 1737949 single base substitution T C missense_variant K78E 232A>G LICA-FR 1 1754816 1754816 single base substitution T C downstream_gene_variant LICA-FR 1 1754816 1754816 single base substitution T C intron_variant LICA-FR 1 1754816 1754816 single base substitution T C upstream_gene_variant LICA-FR 1 1767353 1767353 single base substitution T A intron_variant LICA-FR 1 1767353 1767353 single base substitution T A upstream_gene_variant LICA-FR 1 1770800 1770800 single base substitution C T intron_variant LICA-FR 1 1777281 1777281 single base substitution C G intron_variant LICA-FR 1 1793931 1793931 single base substitution G A intron_variant LICA-FR 1 1812867 1812867 deletion of <=200bp C - intron_variant LICA-FR 1 1823715 1823715 single base substitution A T upstream_gene_variant LIHC-US 1 1720616 1720616 insertion of <=200bp - T downstream_gene_variant LIHC-US 1 1720616 1720616 insertion of <=200bp - T exon_variant LIHC-US 1 1720616 1720616 insertion of <=200bp - T frameshift_variant Y264Y? LIHC-US 1 1721849 1721849 single base substitution G A downstream_gene_variant LIHC-US 1 1721849 1721849 single base substitution G A exon_variant LIHC-US 1 1721849 1721849 single base substitution G A synonymous_variant D228D 684C>T LINC-JP 1 1721816 1721816 single base substitution A G downstream_gene_variant LINC-JP 1 1721816 1721816 single base substitution A G intron_variant LINC-JP 1 1722915 1722915 single base substitution T C downstream_gene_variant LINC-JP 1 1722915 1722915 single base substitution T C intron_variant LINC-JP 1 1730379 1730379 single base substitution G T intron_variant LINC-JP 1 1730379 1730379 single base substitution G T upstream_gene_variant LINC-JP 1 1736184 1736184 single base substitution C T intron_variant LINC-JP 1 1738054 1738054 single base substitution A T intron_variant LINC-JP 1 1738937 1738937 single base substitution C A intron_variant LINC-JP 1 1743869 1743869 single base substitution C A intron_variant LINC-JP 1 1747050 1747050 single base substitution T A intron_variant LINC-JP 1 1752060 1752060 single base substitution T C downstream_gene_variant LINC-JP 1 1752060 1752060 single base substitution T C intron_variant LINC-JP 1 1752060 1752060 single base substitution T C upstream_gene_variant LINC-JP 1 1752662 1752662 single base substitution T C downstream_gene_variant LINC-JP 1 1752662 1752662 single base substitution T C intron_variant LINC-JP 1 1752662 1752662 single base substitution T C upstream_gene_variant LINC-JP 1 1756918 1756918 single base substitution C G 5_prime_UTR_variant LINC-JP 1 1756918 1756918 single base substitution C G exon_variant LINC-JP 1 1767361 1767361 single base substitution G A intron_variant LINC-JP 1 1767361 1767361 single base substitution G A upstream_gene_variant LINC-JP 1 1770305 1770305 single base substitution C T intron_variant LINC-JP 1 1789737 1789737 single base substitution T A intron_variant LINC-JP 1 1790075 1790075 single base substitution G A intron_variant LINC-JP 1 1795779 1795779 single base substitution G A intron_variant LINC-JP 1 1807156 1807157 deletion of <=200bp AC - intron_variant LINC-JP 1 1807676 1807676 single base substitution T C intron_variant LINC-JP 1 1822641 1822641 single base substitution G A upstream_gene_variant LINC-JP 1 1823641 1823641 single base substitution C T upstream_gene_variant LIRI-JP 1 1717119 1717119 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 1717119 1717119 single base substitution G A downstream_gene_variant LIRI-JP 1 1717227 1717227 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 1717227 1717227 single base substitution T A downstream_gene_variant LIRI-JP 1 1717549 1717549 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 1717549 1717549 single base substitution T C downstream_gene_variant LIRI-JP 1 1717863 1717863 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 1717863 1717863 single base substitution T A downstream_gene_variant LIRI-JP 1 1722277 1722277 single base substitution C A downstream_gene_variant LIRI-JP 1 1722277 1722277 single base substitution C A intron_variant LIRI-JP 1 1722934 1722934 single base substitution T C downstream_gene_variant LIRI-JP 1 1722934 1722934 single base substitution T C intron_variant LIRI-JP 1 1723650 1723650 single base substitution G A downstream_gene_variant LIRI-JP 1 1723650 1723650 single base substitution G A intron_variant LIRI-JP 1 1725774 1725774 single base substitution G T intron_variant LIRI-JP 1 1725774 1725774 single base substitution G T upstream_gene_variant LIRI-JP 1 1726241 1726241 single base substitution G A intron_variant LIRI-JP 1 1726241 1726241 single base substitution G A upstream_gene_variant LIRI-JP 1 1727269 1727269 single base substitution A T intron_variant LIRI-JP 1 1727269 1727269 single base substitution A T upstream_gene_variant LIRI-JP 1 1734589 1734589 single base substitution G A downstream_gene_variant LIRI-JP 1 1734589 1734589 single base substitution G A intron_variant LIRI-JP 1 1734743 1734743 single base substitution T C downstream_gene_variant LIRI-JP 1 1734743 1734743 single base substitution T C intron_variant LIRI-JP 1 1735105 1735105 single base substitution C A downstream_gene_variant LIRI-JP 1 1735105 1735105 single base substitution C A intron_variant LIRI-JP 1 1735807 1735807 deletion of <=200bp C - downstream_gene_variant LIRI-JP 1 1735807 1735807 deletion of <=200bp C - intron_variant LIRI-JP 1 1735883 1735884 deletion of <=200bp CA - downstream_gene_variant LIRI-JP 1 1735883 1735884 deletion of <=200bp CA - exon_variant LIRI-JP 1 1735883 1735884 deletion of <=200bp CA - frameshift_variant V122 LIRI-JP 1 1735883 1735884 deletion of <=200bp CA - frameshift_variant V135 LIRI-JP 1 1735991 1735991 single base substitution C A exon_variant LIRI-JP 1 1735991 1735991 single base substitution C A missense_variant W86C 258G>T LIRI-JP 1 1735991 1735991 single base substitution C A missense_variant W99C 297G>T LIRI-JP 1 1741096 1741096 single base substitution C T intron_variant LIRI-JP 1 1741522 1741522 single base substitution T C intron_variant LIRI-JP 1 1743994 1743994 single base substitution T C intron_variant LIRI-JP 1 1744775 1744775 single base substitution C T intron_variant LIRI-JP 1 1745292 1745292 single base substitution T C intron_variant LIRI-JP 1 1745573 1745573 single base substitution A G intron_variant LIRI-JP 1 1745584 1745584 single base substitution T C intron_variant LIRI-JP 1 1745652 1745652 single base substitution T C intron_variant LIRI-JP 1 1748501 1748501 single base substitution C A intron_variant LIRI-JP 1 1749173 1749173 single base substitution C T exon_variant LIRI-JP 1 1749173 1749173 single base substitution C T intron_variant LIRI-JP 1 1751680 1751680 single base substitution T C downstream_gene_variant LIRI-JP 1 1751680 1751680 single base substitution T C intron_variant LIRI-JP 1 1751680 1751680 single base substitution T C upstream_gene_variant LIRI-JP 1 1753692 1753692 single base substitution C T downstream_gene_variant LIRI-JP 1 1753692 1753692 single base substitution C T intron_variant LIRI-JP 1 1753692 1753692 single base substitution C T upstream_gene_variant LIRI-JP 1 1754559 1754559 single base substitution T C downstream_gene_variant LIRI-JP 1 1754559 1754559 single base substitution T C intron_variant LIRI-JP 1 1754559 1754559 single base substitution T C upstream_gene_variant LIRI-JP 1 1756247 1756247 single base substitution A T downstream_gene_variant LIRI-JP 1 1756247 1756247 single base substitution A T intron_variant LIRI-JP 1 1759624 1759624 single base substitution G A intron_variant LIRI-JP 1 1759624 1759624 single base substitution G A upstream_gene_variant LIRI-JP 1 1760971 1760971 single base substitution C T intron_variant LIRI-JP 1 1760971 1760971 single base substitution C T upstream_gene_variant LIRI-JP 1 1761532 1761532 single base substitution A C intron_variant LIRI-JP 1 1761532 1761532 single base substitution A C upstream_gene_variant LIRI-JP 1 1763134 1763134 single base substitution T C intron_variant LIRI-JP 1 1766264 1766264 single base substitution T A intron_variant LIRI-JP 1 1766264 1766264 single base substitution T A upstream_gene_variant LIRI-JP 1 1769845 1769845 single base substitution T C intron_variant LIRI-JP 1 1774353 1774353 single base substitution G A intron_variant LIRI-JP 1 1774731 1774731 single base substitution T A intron_variant LIRI-JP 1 1776256 1776256 insertion of <=200bp - T intron_variant LIRI-JP 1 1781240 1781240 single base substitution T C intron_variant LIRI-JP 1 1783237 1783237 single base substitution C T intron_variant LIRI-JP 1 1783466 1783466 single base substitution G A intron_variant LIRI-JP 1 1785329 1785329 single base substitution T C intron_variant LIRI-JP 1 1787305 1787305 single base substitution T A intron_variant LIRI-JP 1 1788676 1788676 single base substitution C A intron_variant LIRI-JP 1 1789773 1789773 single base substitution C A intron_variant LIRI-JP 1 1793437 1793437 single base substitution C T intron_variant LIRI-JP 1 1794118 1794118 single base substitution C T intron_variant LIRI-JP 1 1797179 1797179 single base substitution T C intron_variant LIRI-JP 1 1797369 1797369 single base substitution G T intron_variant LIRI-JP 1 1802812 1802812 single base substitution T C intron_variant LIRI-JP 1 1803487 1803487 single base substitution C A intron_variant LIRI-JP 1 1805046 1805046 single base substitution C T intron_variant LIRI-JP 1 1805466 1805466 single base substitution T G intron_variant LIRI-JP 1 1807319 1807319 single base substitution G T intron_variant LIRI-JP 1 1812403 1812403 single base substitution A G intron_variant LIRI-JP 1 1813465 1813465 single base substitution T C intron_variant LIRI-JP 1 1815970 1815970 single base substitution T C intron_variant LIRI-JP 1 1816807 1816807 single base substitution G A intron_variant LIRI-JP 1 1817554 1817554 single base substitution C A intron_variant LIRI-JP 1 1818302 1818302 single base substitution G A intron_variant LIRI-JP 1 1819426 1819426 single base substitution A C intron_variant LUSC-KR 1 1713080 1713080 single base substitution G A downstream_gene_variant LUSC-KR 1 1718809 1718809 single base substitution C T downstream_gene_variant LUSC-KR 1 1718809 1718809 single base substitution C T synonymous_variant A328A 984G>A LUSC-KR 1 1722866 1722866 single base substitution G A downstream_gene_variant LUSC-KR 1 1722866 1722866 single base substitution G A intron_variant LUSC-KR 1 1730379 1730379 single base substitution G T intron_variant LUSC-KR 1 1730379 1730379 single base substitution G T upstream_gene_variant LUSC-KR 1 1736720 1736720 single base substitution T A intron_variant LUSC-KR 1 1739392 1739392 single base substitution C A intron_variant LUSC-KR 1 1740069 1740069 single base substitution T C intron_variant LUSC-KR 1 1746505 1746505 single base substitution T A intron_variant LUSC-KR 1 1749732 1749732 single base substitution G A exon_variant LUSC-KR 1 1749732 1749732 single base substitution G A intron_variant LUSC-KR 1 1754164 1754164 single base substitution C A downstream_gene_variant LUSC-KR 1 1754164 1754164 single base substitution C A intron_variant LUSC-KR 1 1754164 1754164 single base substitution C A upstream_gene_variant LUSC-KR 1 1754668 1754668 single base substitution G A downstream_gene_variant LUSC-KR 1 1754668 1754668 single base substitution G A intron_variant LUSC-KR 1 1754668 1754668 single base substitution G A upstream_gene_variant LUSC-KR 1 1755828 1755828 single base substitution C T downstream_gene_variant LUSC-KR 1 1755828 1755828 single base substitution C T intron_variant LUSC-KR 1 1759825 1759825 single base substitution C G intron_variant LUSC-KR 1 1759825 1759825 single base substitution C G upstream_gene_variant LUSC-KR 1 1761629 1761629 single base substitution G A intron_variant LUSC-KR 1 1761629 1761629 single base substitution G A upstream_gene_variant LUSC-KR 1 1764905 1764905 single base substitution C A intron_variant LUSC-KR 1 1764905 1764905 single base substitution C A upstream_gene_variant LUSC-KR 1 1767214 1767214 single base substitution T C intron_variant LUSC-KR 1 1767214 1767214 single base substitution T C upstream_gene_variant LUSC-KR 1 1769200 1769200 single base substitution C A intron_variant LUSC-KR 1 1775314 1775314 single base substitution C G intron_variant LUSC-KR 1 1779674 1779674 single base substitution C T intron_variant LUSC-KR 1 1782648 1782648 single base substitution G C intron_variant LUSC-KR 1 1783076 1783076 single base substitution G A intron_variant LUSC-KR 1 1783803 1783803 single base substitution G A intron_variant LUSC-KR 1 1788669 1788669 single base substitution G A intron_variant LUSC-KR 1 1790486 1790486 single base substitution G A intron_variant LUSC-KR 1 1792079 1792079 single base substitution C A intron_variant LUSC-KR 1 1792171 1792171 single base substitution G C intron_variant LUSC-KR 1 1796494 1796494 single base substitution G A intron_variant LUSC-KR 1 1800414 1800414 single base substitution G C intron_variant LUSC-KR 1 1800544 1800544 single base substitution G C intron_variant LUSC-KR 1 1800688 1800688 single base substitution G C intron_variant LUSC-KR 1 1800788 1800788 single base substitution G C intron_variant LUSC-KR 1 1802716 1802716 single base substitution T C intron_variant LUSC-KR 1 1807955 1807955 single base substitution C A intron_variant LUSC-KR 1 1811297 1811297 single base substitution T C intron_variant LUSC-KR 1 1812919 1812919 single base substitution T C intron_variant LUSC-KR 1 1819998 1819998 single base substitution T A intron_variant LUSC-KR 1 1821688 1821688 single base substitution G C intron_variant LUSC-KR 1 1823453 1823453 single base substitution C T upstream_gene_variant LUSC-US 1 1756837 1756837 single base substitution C A exon_variant LUSC-US 1 1756837 1756837 single base substitution C A missense_variant R19L 56G>T MALY-DE 1 1715249 1715249 single base substitution C G downstream_gene_variant MALY-DE 1 1723706 1723706 single base substitution T A downstream_gene_variant MALY-DE 1 1723706 1723706 single base substitution T A intron_variant MALY-DE 1 1724149 1724149 single base substitution A G downstream_gene_variant MALY-DE 1 1724149 1724149 single base substitution A G intron_variant MALY-DE 1 1739631 1739631 single base substitution C T intron_variant MALY-DE 1 1743087 1743087 single base substitution A T intron_variant MALY-DE 1 1746753 1746753 single base substitution T A intron_variant MALY-DE 1 1746906 1746906 single base substitution A G intron_variant MALY-DE 1 1747859 1747859 single base substitution A G intron_variant MALY-DE 1 1751879 1751879 single base substitution G C downstream_gene_variant MALY-DE 1 1751879 1751879 single base substitution G C intron_variant MALY-DE 1 1751879 1751879 single base substitution G C upstream_gene_variant MALY-DE 1 1757621 1757621 single base substitution C A intron_variant MALY-DE 1 1757621 1757621 single base substitution C A upstream_gene_variant MALY-DE 1 1759327 1759327 single base substitution T G intron_variant MALY-DE 1 1759327 1759327 single base substitution T G upstream_gene_variant MALY-DE 1 1761281 1761281 single base substitution G A intron_variant MALY-DE 1 1761281 1761281 single base substitution G A upstream_gene_variant MALY-DE 1 1771677 1771677 single base substitution A G intron_variant MALY-DE 1 1777448 1777448 single base substitution A C intron_variant MALY-DE 1 1784589 1784589 single base substitution A C intron_variant MALY-DE 1 1787327 1787327 single base substitution G A intron_variant MALY-DE 1 1789784 1789784 single base substitution A G intron_variant MALY-DE 1 1799163 1799163 single base substitution C T intron_variant MALY-DE 1 1805618 1805618 single base substitution C T intron_variant MALY-DE 1 1809998 1809998 single base substitution A G intron_variant MALY-DE 1 1827455 1827455 single base substitution T C upstream_gene_variant MELA-AU 1 1711881 1711881 single base substitution C T downstream_gene_variant MELA-AU 1 1712243 1712243 single base substitution G A downstream_gene_variant MELA-AU 1 1712529 1712529 single base substitution G A downstream_gene_variant MELA-AU 1 1712570 1712570 single base substitution A T downstream_gene_variant MELA-AU 1 1713212 1713212 single base substitution G A downstream_gene_variant MELA-AU 1 1713605 1713605 single base substitution G A downstream_gene_variant MELA-AU 1 1714517 1714517 single base substitution G A downstream_gene_variant MELA-AU 1 1714590 1714590 single base substitution G A downstream_gene_variant MELA-AU 1 1714663 1714663 single base substitution A G downstream_gene_variant MELA-AU 1 1714725 1714725 single base substitution G A downstream_gene_variant MELA-AU 1 1715125 1715125 single base substitution G A downstream_gene_variant MELA-AU 1 1715157 1715157 single base substitution G A downstream_gene_variant MELA-AU 1 1715192 1715192 single base substitution G A downstream_gene_variant MELA-AU 1 1715204 1715204 single base substitution C T downstream_gene_variant MELA-AU 1 1715765 1715765 single base substitution G A downstream_gene_variant MELA-AU 1 1716221 1716221 single base substitution G A downstream_gene_variant MELA-AU 1 1716414 1716414 single base substitution G A downstream_gene_variant MELA-AU 1 1718916 1718916 single base substitution G A downstream_gene_variant MELA-AU 1 1718916 1718916 single base substitution G A intron_variant MELA-AU 1 1719011 1719011 single base substitution G A downstream_gene_variant MELA-AU 1 1719011 1719011 single base substitution G A intron_variant MELA-AU 1 1719386 1719386 single base substitution G A downstream_gene_variant MELA-AU 1 1719386 1719386 single base substitution G A intron_variant MELA-AU 1 1719723 1719723 single base substitution G A downstream_gene_variant MELA-AU 1 1719723 1719723 single base substitution G A exon_variant MELA-AU 1 1719723 1719723 single base substitution G A intron_variant MELA-AU 1 1721278 1721278 single base substitution G A downstream_gene_variant MELA-AU 1 1721278 1721278 single base substitution G A intron_variant MELA-AU 1 1721688 1721688 single base substitution G A downstream_gene_variant MELA-AU 1 1721688 1721688 single base substitution G A intron_variant MELA-AU 1 1721729 1721729 single base substitution G A downstream_gene_variant MELA-AU 1 1721729 1721729 single base substitution G A intron_variant MELA-AU 1 1722209 1722209 single base substitution G A downstream_gene_variant MELA-AU 1 1722209 1722209 single base substitution G A intron_variant MELA-AU 1 1723486 1723486 single base substitution A T downstream_gene_variant MELA-AU 1 1723486 1723486 single base substitution A T intron_variant MELA-AU 1 1723994 1723994 single base substitution G A downstream_gene_variant MELA-AU 1 1723994 1723994 single base substitution G A intron_variant MELA-AU 1 1724270 1724270 single base substitution C T downstream_gene_variant MELA-AU 1 1724270 1724270 single base substitution C T intron_variant MELA-AU 1 1724471 1724471 single base substitution C T downstream_gene_variant MELA-AU 1 1724471 1724471 single base substitution C T intron_variant MELA-AU 1 1724837 1724837 single base substitution G A exon_variant MELA-AU 1 1724837 1724837 single base substitution G A intron_variant MELA-AU 1 1725214 1725214 single base substitution G A exon_variant MELA-AU 1 1725214 1725214 single base substitution G A intron_variant MELA-AU 1 1725386 1725386 single base substitution G A exon_variant MELA-AU 1 1725386 1725386 single base substitution G A intron_variant MELA-AU 1 1725619 1725619 single base substitution G A exon_variant MELA-AU 1 1725619 1725619 single base substitution G A intron_variant MELA-AU 1 1725656 1725657 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 1 1725656 1725657 multiple base substitution (>=2bp and <=200bp) CA TT upstream_gene_variant MELA-AU 1 1727120 1727120 single base substitution A G intron_variant MELA-AU 1 1727120 1727120 single base substitution A G upstream_gene_variant MELA-AU 1 1728280 1728280 single base substitution G A intron_variant MELA-AU 1 1728280 1728280 single base substitution G A upstream_gene_variant MELA-AU 1 1728826 1728826 single base substitution G A intron_variant MELA-AU 1 1728826 1728826 single base substitution G A upstream_gene_variant MELA-AU 1 1729007 1729007 single base substitution G A intron_variant MELA-AU 1 1729007 1729007 single base substitution G A upstream_gene_variant MELA-AU 1 1729043 1729043 single base substitution A C intron_variant MELA-AU 1 1729043 1729043 single base substitution A C upstream_gene_variant MELA-AU 1 1729558 1729558 single base substitution A T intron_variant MELA-AU 1 1729558 1729558 single base substitution A T upstream_gene_variant MELA-AU 1 1729609 1729609 single base substitution G A intron_variant MELA-AU 1 1729609 1729609 single base substitution G A upstream_gene_variant MELA-AU 1 1729759 1729759 single base substitution G A intron_variant MELA-AU 1 1729759 1729759 single base substitution G A upstream_gene_variant MELA-AU 1 1729866 1729866 single base substitution G A intron_variant MELA-AU 1 1729866 1729866 single base substitution G A upstream_gene_variant MELA-AU 1 1730646 1730646 single base substitution A G intron_variant MELA-AU 1 1730824 1730824 single base substitution G A intron_variant MELA-AU 1 1730913 1730913 single base substitution G A intron_variant MELA-AU 1 1731256 1731256 single base substitution G A downstream_gene_variant MELA-AU 1 1731256 1731256 single base substitution G A intron_variant MELA-AU 1 1731989 1731989 single base substitution G A downstream_gene_variant MELA-AU 1 1731989 1731989 single base substitution G A intron_variant MELA-AU 1 1732199 1732199 single base substitution A T downstream_gene_variant MELA-AU 1 1732199 1732199 single base substitution A T intron_variant MELA-AU 1 1733187 1733187 single base substitution G A downstream_gene_variant MELA-AU 1 1733187 1733187 single base substitution G A intron_variant MELA-AU 1 1733606 1733606 single base substitution C A downstream_gene_variant MELA-AU 1 1733606 1733606 single base substitution C A intron_variant MELA-AU 1 1733635 1733635 single base substitution G A downstream_gene_variant MELA-AU 1 1733635 1733635 single base substitution G A intron_variant MELA-AU 1 1733649 1733649 single base substitution A G downstream_gene_variant MELA-AU 1 1733649 1733649 single base substitution A G intron_variant MELA-AU 1 1734096 1734096 single base substitution G A downstream_gene_variant MELA-AU 1 1734096 1734096 single base substitution G A intron_variant MELA-AU 1 1734267 1734267 single base substitution G A downstream_gene_variant MELA-AU 1 1734267 1734267 single base substitution G A intron_variant MELA-AU 1 1734395 1734395 single base substitution A G downstream_gene_variant MELA-AU 1 1734395 1734395 single base substitution A G intron_variant MELA-AU 1 1735109 1735109 single base substitution T C downstream_gene_variant MELA-AU 1 1735109 1735109 single base substitution T C intron_variant MELA-AU 1 1735116 1735116 single base substitution A G downstream_gene_variant MELA-AU 1 1735116 1735116 single base substitution A G intron_variant MELA-AU 1 1735320 1735320 single base substitution C T downstream_gene_variant MELA-AU 1 1735320 1735320 single base substitution C T intron_variant MELA-AU 1 1735725 1735725 single base substitution G A downstream_gene_variant MELA-AU 1 1735725 1735725 single base substitution G A intron_variant MELA-AU 1 1735922 1735922 single base substitution G A downstream_gene_variant MELA-AU 1 1735922 1735922 single base substitution G A exon_variant MELA-AU 1 1735922 1735922 single base substitution G A synonymous_variant S109S 327C>T MELA-AU 1 1735922 1735922 single base substitution G A synonymous_variant S122S 366C>T MELA-AU 1 1735962 1735963 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1735962 1735963 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 1735962 1735963 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G109K 325GG>AA MELA-AU 1 1735962 1735963 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G96K 286GG>AA MELA-AU 1 1736177 1736177 single base substitution G A intron_variant MELA-AU 1 1736605 1736605 single base substitution G A intron_variant MELA-AU 1 1736868 1736868 single base substitution C T intron_variant MELA-AU 1 1737270 1737270 single base substitution G A intron_variant MELA-AU 1 1737453 1737453 single base substitution G A intron_variant MELA-AU 1 1737949 1737949 single base substitution T C exon_variant MELA-AU 1 1737949 1737949 single base substitution T C missense_variant K65E 193A>G MELA-AU 1 1737949 1737949 single base substitution T C missense_variant K78E 232A>G MELA-AU 1 1738630 1738630 single base substitution G A intron_variant MELA-AU 1 1738798 1738798 single base substitution G A intron_variant MELA-AU 1 1739682 1739682 single base substitution G A intron_variant MELA-AU 1 1740218 1740218 single base substitution G A intron_variant MELA-AU 1 1741132 1741132 single base substitution G A intron_variant MELA-AU 1 1741774 1741774 single base substitution G A intron_variant MELA-AU 1 1742105 1742105 single base substitution T C intron_variant MELA-AU 1 1742618 1742618 single base substitution G A intron_variant MELA-AU 1 1742910 1742910 single base substitution G A intron_variant MELA-AU 1 1743295 1743295 single base substitution G A intron_variant MELA-AU 1 1743492 1743492 single base substitution G A intron_variant MELA-AU 1 1744120 1744120 single base substitution G A intron_variant MELA-AU 1 1745559 1745559 single base substitution C T intron_variant MELA-AU 1 1745904 1745904 single base substitution G A intron_variant MELA-AU 1 1746478 1746478 single base substitution G A intron_variant MELA-AU 1 1747030 1747030 single base substitution G A intron_variant MELA-AU 1 1747240 1747240 single base substitution C T exon_variant MELA-AU 1 1747240 1747240 single base substitution C T missense_variant G40E 119G>A MELA-AU 1 1747240 1747240 single base substitution C T missense_variant G53E 158G>A MELA-AU 1 1747282 1747282 single base substitution G A exon_variant MELA-AU 1 1747282 1747282 single base substitution G A missense_variant P26L 77C>T MELA-AU 1 1747282 1747282 single base substitution G A missense_variant P39L 116C>T MELA-AU 1 1747609 1747609 single base substitution G A intron_variant MELA-AU 1 1749688 1749688 single base substitution C G exon_variant MELA-AU 1 1749688 1749688 single base substitution C G intron_variant MELA-AU 1 1749719 1749719 single base substitution G A exon_variant MELA-AU 1 1749719 1749719 single base substitution G A intron_variant MELA-AU 1 1750094 1750094 single base substitution G A intron_variant MELA-AU 1 1750094 1750094 single base substitution G A upstream_gene_variant MELA-AU 1 1750279 1750279 single base substitution G A intron_variant MELA-AU 1 1750279 1750279 single base substitution G A upstream_gene_variant MELA-AU 1 1750401 1750401 single base substitution G A intron_variant MELA-AU 1 1750401 1750401 single base substitution G A upstream_gene_variant MELA-AU 1 1751469 1751469 single base substitution G A downstream_gene_variant MELA-AU 1 1751469 1751469 single base substitution G A intron_variant MELA-AU 1 1751469 1751469 single base substitution G A upstream_gene_variant MELA-AU 1 1751773 1751773 single base substitution G A downstream_gene_variant MELA-AU 1 1751773 1751773 single base substitution G A intron_variant MELA-AU 1 1751773 1751773 single base substitution G A upstream_gene_variant MELA-AU 1 1752151 1752151 single base substitution G A downstream_gene_variant MELA-AU 1 1752151 1752151 single base substitution G A intron_variant MELA-AU 1 1752151 1752151 single base substitution G A upstream_gene_variant MELA-AU 1 1753183 1753183 single base substitution G A downstream_gene_variant MELA-AU 1 1753183 1753183 single base substitution G A intron_variant MELA-AU 1 1753183 1753183 single base substitution G A upstream_gene_variant MELA-AU 1 1753184 1753184 single base substitution G A downstream_gene_variant MELA-AU 1 1753184 1753184 single base substitution G A intron_variant MELA-AU 1 1753184 1753184 single base substitution G A upstream_gene_variant MELA-AU 1 1753471 1753472 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 1753471 1753472 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1753471 1753472 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 1754127 1754127 single base substitution G A downstream_gene_variant MELA-AU 1 1754127 1754127 single base substitution G A intron_variant MELA-AU 1 1754127 1754127 single base substitution G A upstream_gene_variant MELA-AU 1 1755063 1755063 single base substitution G T downstream_gene_variant MELA-AU 1 1755063 1755063 single base substitution G T intron_variant MELA-AU 1 1755603 1755603 single base substitution C T downstream_gene_variant MELA-AU 1 1755603 1755603 single base substitution C T intron_variant MELA-AU 1 1755712 1755712 single base substitution G A downstream_gene_variant MELA-AU 1 1755712 1755712 single base substitution G A intron_variant MELA-AU 1 1755935 1755935 single base substitution G A downstream_gene_variant MELA-AU 1 1755935 1755935 single base substitution G A intron_variant MELA-AU 1 1755998 1755998 single base substitution G A downstream_gene_variant MELA-AU 1 1755998 1755998 single base substitution G A intron_variant MELA-AU 1 1756648 1756648 single base substitution G A exon_variant MELA-AU 1 1756648 1756648 single base substitution G A intron_variant MELA-AU 1 1757843 1757843 single base substitution G A intron_variant MELA-AU 1 1757843 1757843 single base substitution G A upstream_gene_variant MELA-AU 1 1757926 1757926 single base substitution G A intron_variant MELA-AU 1 1757926 1757926 single base substitution G A upstream_gene_variant MELA-AU 1 1760196 1760196 single base substitution C T intron_variant MELA-AU 1 1760196 1760196 single base substitution C T upstream_gene_variant MELA-AU 1 1760479 1760479 single base substitution G A intron_variant MELA-AU 1 1760479 1760479 single base substitution G A upstream_gene_variant MELA-AU 1 1761479 1761479 single base substitution C T intron_variant MELA-AU 1 1761479 1761479 single base substitution C T upstream_gene_variant MELA-AU 1 1762005 1762005 single base substitution A T intron_variant MELA-AU 1 1762424 1762424 single base substitution G A intron_variant MELA-AU 1 1762629 1762629 single base substitution C T intron_variant MELA-AU 1 1762822 1762822 single base substitution G A intron_variant MELA-AU 1 1763485 1763486 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1764792 1764792 single base substitution C G intron_variant MELA-AU 1 1764792 1764792 single base substitution C G upstream_gene_variant MELA-AU 1 1764802 1764802 single base substitution G A intron_variant MELA-AU 1 1764802 1764802 single base substitution G A upstream_gene_variant MELA-AU 1 1764827 1764827 single base substitution G A intron_variant MELA-AU 1 1764827 1764827 single base substitution G A upstream_gene_variant MELA-AU 1 1764840 1764840 single base substitution G A intron_variant MELA-AU 1 1764840 1764840 single base substitution G A upstream_gene_variant MELA-AU 1 1765536 1765536 single base substitution G A intron_variant MELA-AU 1 1765536 1765536 single base substitution G A upstream_gene_variant MELA-AU 1 1765818 1765818 single base substitution C A intron_variant MELA-AU 1 1765818 1765818 single base substitution C A upstream_gene_variant MELA-AU 1 1765955 1765955 single base substitution C T intron_variant MELA-AU 1 1765955 1765955 single base substitution C T upstream_gene_variant MELA-AU 1 1767243 1767243 single base substitution G A intron_variant MELA-AU 1 1767243 1767243 single base substitution G A upstream_gene_variant MELA-AU 1 1767508 1767508 single base substitution G A intron_variant MELA-AU 1 1767508 1767508 single base substitution G A upstream_gene_variant MELA-AU 1 1768788 1768788 single base substitution G A intron_variant MELA-AU 1 1769461 1769461 single base substitution G A intron_variant MELA-AU 1 1770241 1770241 single base substitution G A intron_variant MELA-AU 1 1771340 1771340 single base substitution T A intron_variant MELA-AU 1 1772219 1772219 single base substitution G A intron_variant MELA-AU 1 1772476 1772476 single base substitution A C intron_variant MELA-AU 1 1772628 1772636 deletion of <=200bp CACATTTAT - intron_variant MELA-AU 1 1774444 1774444 single base substitution G C intron_variant MELA-AU 1 1775183 1775183 single base substitution A T intron_variant MELA-AU 1 1775220 1775220 single base substitution G A intron_variant MELA-AU 1 1775417 1775417 single base substitution G A intron_variant MELA-AU 1 1775713 1775713 single base substitution C T intron_variant MELA-AU 1 1776460 1776460 single base substitution C T intron_variant MELA-AU 1 1777343 1777343 single base substitution T C intron_variant MELA-AU 1 1777594 1777594 single base substitution G A intron_variant MELA-AU 1 1778132 1778132 single base substitution G A intron_variant MELA-AU 1 1778645 1778645 single base substitution T C intron_variant MELA-AU 1 1778810 1778810 single base substitution G A intron_variant MELA-AU 1 1779354 1779354 single base substitution G A intron_variant MELA-AU 1 1779999 1779999 single base substitution G A intron_variant MELA-AU 1 1780263 1780263 single base substitution C A intron_variant MELA-AU 1 1780932 1780932 single base substitution A G intron_variant MELA-AU 1 1781414 1781414 single base substitution T C intron_variant MELA-AU 1 1781842 1781842 single base substitution G A intron_variant MELA-AU 1 1782271 1782271 single base substitution C T intron_variant MELA-AU 1 1782668 1782668 single base substitution G A intron_variant MELA-AU 1 1782757 1782757 single base substitution G A intron_variant MELA-AU 1 1783329 1783329 single base substitution G A intron_variant MELA-AU 1 1783392 1783392 single base substitution G A intron_variant MELA-AU 1 1783882 1783882 single base substitution G A intron_variant MELA-AU 1 1784602 1784602 single base substitution G A intron_variant MELA-AU 1 1784919 1784919 single base substitution C T intron_variant MELA-AU 1 1785041 1785041 single base substitution C T intron_variant MELA-AU 1 1785571 1785571 single base substitution C T intron_variant MELA-AU 1 1786405 1786405 single base substitution C T intron_variant MELA-AU 1 1786512 1786512 single base substitution C A intron_variant MELA-AU 1 1786687 1786687 single base substitution G A intron_variant MELA-AU 1 1786915 1786915 single base substitution C T intron_variant MELA-AU 1 1787070 1787070 insertion of <=200bp - G intron_variant MELA-AU 1 1787291 1787291 single base substitution T C intron_variant MELA-AU 1 1787962 1787962 single base substitution G A intron_variant MELA-AU 1 1788568 1788569 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1791018 1791018 single base substitution G A intron_variant MELA-AU 1 1791852 1791852 single base substitution A C intron_variant MELA-AU 1 1792418 1792418 single base substitution G A intron_variant MELA-AU 1 1792496 1792496 single base substitution G A intron_variant MELA-AU 1 1793254 1793254 single base substitution A C intron_variant MELA-AU 1 1795992 1795992 single base substitution A G intron_variant MELA-AU 1 1797458 1797458 single base substitution A G intron_variant MELA-AU 1 1797884 1797884 single base substitution G A intron_variant MELA-AU 1 1798941 1798942 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1799092 1799092 single base substitution C T intron_variant MELA-AU 1 1799593 1799593 single base substitution C T intron_variant MELA-AU 1 1800782 1800782 single base substitution A G intron_variant MELA-AU 1 1801515 1801515 single base substitution G A intron_variant MELA-AU 1 1802285 1802285 single base substitution G A intron_variant MELA-AU 1 1802322 1802322 single base substitution A C intron_variant MELA-AU 1 1802482 1802482 single base substitution C T intron_variant MELA-AU 1 1802564 1802564 single base substitution G A intron_variant MELA-AU 1 1802601 1802601 single base substitution G A intron_variant MELA-AU 1 1802661 1802662 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1802970 1802970 single base substitution C T intron_variant MELA-AU 1 1805167 1805167 single base substitution G A intron_variant MELA-AU 1 1805505 1805505 single base substitution G A intron_variant MELA-AU 1 1805517 1805517 single base substitution G A intron_variant MELA-AU 1 1805954 1805954 single base substitution G A intron_variant MELA-AU 1 1805958 1805958 single base substitution A G intron_variant MELA-AU 1 1806378 1806378 single base substitution G A intron_variant MELA-AU 1 1806482 1806482 single base substitution G A intron_variant MELA-AU 1 1806974 1806974 single base substitution G A intron_variant MELA-AU 1 1808753 1808753 single base substitution A T intron_variant MELA-AU 1 1808804 1808804 single base substitution G A intron_variant MELA-AU 1 1809866 1809866 single base substitution G A intron_variant MELA-AU 1 1810542 1810542 single base substitution G A intron_variant MELA-AU 1 1810710 1810710 single base substitution G A intron_variant MELA-AU 1 1810719 1810719 single base substitution G A intron_variant MELA-AU 1 1810720 1810720 single base substitution G A intron_variant MELA-AU 1 1810938 1810938 single base substitution G A intron_variant MELA-AU 1 1810957 1810957 single base substitution A G intron_variant MELA-AU 1 1811142 1811142 single base substitution T C intron_variant MELA-AU 1 1811306 1811306 single base substitution T A intron_variant MELA-AU 1 1812033 1812033 single base substitution A T intron_variant MELA-AU 1 1812441 1812441 single base substitution G A intron_variant MELA-AU 1 1812453 1812453 single base substitution G A intron_variant MELA-AU 1 1812602 1812602 single base substitution A G intron_variant MELA-AU 1 1813321 1813321 single base substitution G A intron_variant MELA-AU 1 1815038 1815038 single base substitution C T intron_variant MELA-AU 1 1815576 1815576 single base substitution T C intron_variant MELA-AU 1 1816195 1816195 single base substitution C T intron_variant MELA-AU 1 1817388 1817388 single base substitution C T intron_variant MELA-AU 1 1819611 1819611 single base substitution G A intron_variant MELA-AU 1 1820516 1820516 single base substitution A T intron_variant MELA-AU 1 1821755 1821756 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 1823740 1823740 single base substitution C T upstream_gene_variant MELA-AU 1 1825945 1825945 single base substitution G A upstream_gene_variant MELA-AU 1 1826107 1826107 single base substitution C T upstream_gene_variant MELA-AU 1 1827157 1827157 single base substitution G A upstream_gene_variant MELA-AU 1 1827225 1827225 single base substitution C T upstream_gene_variant MELA-AU 1 1827334 1827334 single base substitution G A upstream_gene_variant MELA-AU 1 1827349 1827349 single base substitution C T upstream_gene_variant MELA-AU 1 1827373 1827374 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 1 1743967 1743967 single base substitution G A intron_variant ORCA-IN 1 1756473 1756473 single base substitution C T exon_variant ORCA-IN 1 1756473 1756473 single base substitution C T intron_variant ORCA-IN 1 1763933 1763933 single base substitution G A intron_variant ORCA-IN 1 1763933 1763933 single base substitution G A upstream_gene_variant ORCA-IN 1 1774901 1774901 single base substitution A T intron_variant ORCA-IN 1 1782671 1782671 single base substitution G C intron_variant ORCA-IN 1 1787699 1787699 single base substitution G T intron_variant ORCA-IN 1 1791033 1791033 single base substitution G C intron_variant ORCA-IN 1 1800450 1800450 single base substitution C T intron_variant OV-AU 1 1713591 1713591 single base substitution G T downstream_gene_variant OV-AU 1 1714419 1714419 single base substitution G A downstream_gene_variant OV-AU 1 1729882 1729882 single base substitution A G intron_variant OV-AU 1 1729882 1729882 single base substitution A G upstream_gene_variant OV-AU 1 1732552 1732552 single base substitution C T downstream_gene_variant OV-AU 1 1732552 1732552 single base substitution C T intron_variant OV-AU 1 1741617 1741617 single base substitution G A intron_variant OV-AU 1 1741650 1741650 single base substitution A C intron_variant OV-AU 1 1742527 1742527 single base substitution T A intron_variant OV-AU 1 1743007 1743007 single base substitution T G intron_variant OV-AU 1 1745823 1745823 single base substitution T G intron_variant OV-AU 1 1748749 1748749 single base substitution C T intron_variant OV-AU 1 1749418 1749418 single base substitution G A exon_variant OV-AU 1 1749418 1749418 single base substitution G A intron_variant OV-AU 1 1751659 1751659 single base substitution G A downstream_gene_variant OV-AU 1 1751659 1751659 single base substitution G A intron_variant OV-AU 1 1751659 1751659 single base substitution G A upstream_gene_variant OV-AU 1 1755193 1755193 single base substitution G A downstream_gene_variant OV-AU 1 1755193 1755193 single base substitution G A intron_variant OV-AU 1 1765266 1765266 single base substitution T G intron_variant OV-AU 1 1765266 1765266 single base substitution T G upstream_gene_variant OV-AU 1 1766002 1766002 single base substitution A G intron_variant OV-AU 1 1766002 1766002 single base substitution A G upstream_gene_variant OV-AU 1 1770215 1770215 single base substitution A T intron_variant OV-AU 1 1779042 1779042 single base substitution A G intron_variant OV-AU 1 1781551 1781551 single base substitution C A intron_variant OV-AU 1 1781863 1781863 single base substitution C T intron_variant OV-AU 1 1789423 1789423 single base substitution C T intron_variant OV-AU 1 1800021 1800021 single base substitution A C intron_variant OV-AU 1 1803136 1803136 single base substitution C G intron_variant OV-AU 1 1805628 1805628 single base substitution G A intron_variant OV-AU 1 1809027 1809027 single base substitution T A intron_variant OV-AU 1 1819915 1819915 single base substitution G A intron_variant OV-AU 1 1827004 1827004 single base substitution G A upstream_gene_variant OV-AU 1 1827045 1827045 single base substitution G T upstream_gene_variant PACA-AU 1 1713996 1713996 single base substitution A G downstream_gene_variant PACA-AU 1 1718151 1718151 single base substitution G T 3_prime_UTR_variant PACA-AU 1 1718151 1718151 single base substitution G T downstream_gene_variant PACA-AU 1 1724678 1724678 single base substitution A C downstream_gene_variant PACA-AU 1 1724678 1724678 single base substitution A C intron_variant PACA-AU 1 1724678 1724678 single base substitution A C splice_region_variant PACA-AU 1 1725106 1725106 single base substitution C T exon_variant PACA-AU 1 1725106 1725106 single base substitution C T intron_variant PACA-AU 1 1728078 1728078 single base substitution G T intron_variant PACA-AU 1 1728078 1728078 single base substitution G T upstream_gene_variant PACA-AU 1 1729547 1729547 single base substitution A C intron_variant PACA-AU 1 1729547 1729547 single base substitution A C upstream_gene_variant PACA-AU 1 1730446 1730446 insertion of <=200bp - C intron_variant PACA-AU 1 1730446 1730446 insertion of <=200bp - C upstream_gene_variant PACA-AU 1 1739149 1739149 single base substitution T C intron_variant PACA-AU 1 1739914 1739914 single base substitution G A intron_variant PACA-AU 1 1748055 1748055 single base substitution C G intron_variant PACA-AU 1 1749014 1749014 insertion of <=200bp - A intron_variant PACA-AU 1 1756809 1756809 single base substitution T C exon_variant PACA-AU 1 1756809 1756809 single base substitution T C intron_variant PACA-AU 1 1759954 1759954 single base substitution T C intron_variant PACA-AU 1 1759954 1759954 single base substitution T C upstream_gene_variant PACA-AU 1 1768405 1768405 single base substitution T A intron_variant PACA-AU 1 1768405 1768405 single base substitution T A upstream_gene_variant PACA-AU 1 1771106 1771106 single base substitution T C 5_prime_UTR_variant PACA-AU 1 1771106 1771106 single base substitution T C intron_variant PACA-AU 1 1774508 1774508 single base substitution A G intron_variant PACA-AU 1 1777153 1777153 single base substitution C T intron_variant PACA-AU 1 1785050 1785050 single base substitution T C intron_variant PACA-AU 1 1789763 1789763 single base substitution T G intron_variant PACA-AU 1 1791951 1791951 single base substitution C T intron_variant PACA-AU 1 1797297 1797297 single base substitution G A intron_variant PACA-AU 1 1797390 1797390 single base substitution T A intron_variant PACA-AU 1 1797777 1797793 deletion of <=200bp CATAATTTTTCACAAGT - intron_variant PACA-AU 1 1808565 1808565 single base substitution C A intron_variant PACA-AU 1 1809117 1809117 single base substitution C A intron_variant PACA-AU 1 1810844 1810844 single base substitution T C intron_variant PACA-AU 1 1815361 1815361 single base substitution T C intron_variant PACA-AU 1 1819477 1819477 single base substitution G A intron_variant PACA-AU 1 1819822 1819822 insertion of <=200bp - G intron_variant PACA-CA 1 1717255 1717255 single base substitution A T 3_prime_UTR_variant PACA-CA 1 1717255 1717255 single base substitution A T downstream_gene_variant PACA-CA 1 1718354 1718354 single base substitution T C 3_prime_UTR_variant PACA-CA 1 1718354 1718354 single base substitution T C downstream_gene_variant PACA-CA 1 1718448 1718448 single base substitution G A 3_prime_UTR_variant PACA-CA 1 1718448 1718448 single base substitution G A downstream_gene_variant PACA-CA 1 1725864 1725864 single base substitution C G intron_variant PACA-CA 1 1725864 1725864 single base substitution C G upstream_gene_variant PACA-CA 1 1726278 1726278 single base substitution G A intron_variant PACA-CA 1 1726278 1726278 single base substitution G A upstream_gene_variant PACA-CA 1 1728196 1728196 single base substitution G T intron_variant PACA-CA 1 1728196 1728196 single base substitution G T upstream_gene_variant PACA-CA 1 1728367 1728367 single base substitution G A intron_variant PACA-CA 1 1728367 1728367 single base substitution G A upstream_gene_variant PACA-CA 1 1735436 1735436 single base substitution A G downstream_gene_variant PACA-CA 1 1735436 1735436 single base substitution A G intron_variant PACA-CA 1 1737125 1737125 single base substitution G A intron_variant PACA-CA 1 1743516 1743516 single base substitution C A intron_variant PACA-CA 1 1743823 1743823 insertion of <=200bp - TA intron_variant PACA-CA 1 1756209 1756209 single base substitution C A downstream_gene_variant PACA-CA 1 1756209 1756209 single base substitution C A intron_variant PACA-CA 1 1763816 1763816 single base substitution G A intron_variant PACA-CA 1 1763816 1763816 single base substitution G A upstream_gene_variant PACA-CA 1 1771922 1771922 single base substitution G C intron_variant PACA-CA 1 1771926 1771926 single base substitution C T intron_variant PACA-CA 1 1771977 1771977 single base substitution C T intron_variant PACA-CA 1 1773489 1773489 single base substitution G A intron_variant PACA-CA 1 1774501 1774501 single base substitution T A intron_variant PACA-CA 1 1774625 1774625 deletion of <=200bp A - intron_variant PACA-CA 1 1776929 1776929 single base substitution G A intron_variant PACA-CA 1 1781664 1781664 single base substitution G T intron_variant PACA-CA 1 1784793 1784793 insertion of <=200bp - T intron_variant PACA-CA 1 1786326 1786326 single base substitution G A intron_variant PACA-CA 1 1793197 1793197 single base substitution C G intron_variant PACA-CA 1 1794055 1794055 single base substitution A G intron_variant PACA-CA 1 1805561 1805561 single base substitution C G intron_variant PACA-CA 1 1808757 1808757 single base substitution T A intron_variant PACA-CA 1 1811980 1811980 single base substitution G T intron_variant PACA-CA 1 1812033 1812033 single base substitution A T intron_variant PACA-CA 1 1813054 1813054 single base substitution G C intron_variant PACA-CA 1 1813465 1813489 deletion of <=200bp TCCCTGGGAGCCACAGCCACTGCCC - intron_variant PACA-CA 1 1814546 1814546 single base substitution C A intron_variant PACA-CA 1 1816288 1816288 single base substitution A T intron_variant PACA-CA 1 1818302 1818302 single base substitution G A intron_variant PAEN-AU 1 1749661 1749661 single base substitution T A exon_variant PAEN-AU 1 1749661 1749661 single base substitution T A intron_variant PAEN-AU 1 1774456 1774456 single base substitution C T intron_variant PAEN-IT 1 1734795 1734795 single base substitution G A downstream_gene_variant PAEN-IT 1 1734795 1734795 single base substitution G A intron_variant PAEN-IT 1 1737160 1737160 single base substitution T C intron_variant PAEN-IT 1 1751044 1751044 single base substitution C T intron_variant PAEN-IT 1 1751044 1751044 single base substitution C T upstream_gene_variant PBCA-DE 1 1718242 1718253 deletion of <=200bp ACAAAAAAGAAA - 3_prime_UTR_variant PBCA-DE 1 1718242 1718253 deletion of <=200bp ACAAAAAAGAAA - downstream_gene_variant PBCA-DE 1 1722404 1722404 single base substitution C T downstream_gene_variant PBCA-DE 1 1722404 1722404 single base substitution C T intron_variant PBCA-DE 1 1731672 1731672 single base substitution C T downstream_gene_variant PBCA-DE 1 1731672 1731672 single base substitution C T intron_variant PBCA-DE 1 1734777 1734777 single base substitution C A downstream_gene_variant PBCA-DE 1 1734777 1734777 single base substitution C A intron_variant PBCA-DE 1 1766004 1766004 single base substitution G T intron_variant PBCA-DE 1 1766004 1766004 single base substitution G T upstream_gene_variant PBCA-DE 1 1779125 1779125 single base substitution C T intron_variant PBCA-DE 1 1788745 1788745 insertion of <=200bp - GGCT intron_variant PBCA-DE 1 1790894 1790894 single base substitution C T intron_variant PBCA-DE 1 1792791 1792791 single base substitution G T intron_variant PBCA-DE 1 1795606 1795606 insertion of <=200bp - A intron_variant PBCA-DE 1 1807932 1807933 deletion of <=200bp GA - intron_variant PBCA-DE 1 1809211 1809211 single base substitution C T intron_variant PBCA-DE 1 1809449 1809449 single base substitution C T intron_variant PBCA-DE 1 1817417 1817417 insertion of <=200bp - CACTGA intron_variant PBCA-DE 1 1818529 1818529 single base substitution A G intron_variant PBCA-DE 1 1821750 1821750 single base substitution T A intron_variant PBCA-DE 1 1823594 1823594 single base substitution G A upstream_gene_variant PBCA-DE 1 1823835 1823835 single base substitution C T upstream_gene_variant PRAD-CA 1 1762684 1762684 single base substitution G C intron_variant PRAD-CA 1 1768936 1768936 single base substitution A C intron_variant PRAD-CA 1 1777279 1777279 single base substitution C G intron_variant PRAD-CA 1 1786801 1786801 single base substitution C G intron_variant PRAD-CA 1 1791578 1791578 single base substitution C T intron_variant PRAD-CA 1 1797944 1797944 single base substitution T G intron_variant PRAD-UK 1 1728621 1728621 single base substitution A G intron_variant PRAD-UK 1 1728621 1728621 single base substitution A G upstream_gene_variant PRAD-UK 1 1729677 1729677 single base substitution A G intron_variant PRAD-UK 1 1729677 1729677 single base substitution A G upstream_gene_variant PRAD-UK 1 1731490 1731490 single base substitution C T downstream_gene_variant PRAD-UK 1 1731490 1731490 single base substitution C T intron_variant PRAD-UK 1 1736385 1736385 single base substitution G C intron_variant PRAD-UK 1 1756076 1756076 single base substitution A G downstream_gene_variant PRAD-UK 1 1756076 1756076 single base substitution A G intron_variant PRAD-UK 1 1761689 1761689 single base substitution A C intron_variant PRAD-UK 1 1761689 1761689 single base substitution A C upstream_gene_variant PRAD-UK 1 1762699 1762699 single base substitution C A intron_variant PRAD-UK 1 1765112 1765112 single base substitution G C intron_variant PRAD-UK 1 1765112 1765112 single base substitution G C upstream_gene_variant PRAD-UK 1 1767294 1767294 single base substitution T G intron_variant PRAD-UK 1 1767294 1767294 single base substitution T G upstream_gene_variant PRAD-UK 1 1774707 1774707 deletion of <=200bp G - intron_variant PRAD-UK 1 1779814 1779814 deletion of <=200bp G - intron_variant PRAD-UK 1 1791267 1791267 single base substitution C G intron_variant PRAD-UK 1 1800333 1800333 single base substitution G A intron_variant PRAD-UK 1 1805013 1805013 single base substitution A C intron_variant PRAD-UK 1 1813326 1813326 deletion of <=200bp C - intron_variant PRAD-UK 1 1815663 1815663 single base substitution C T intron_variant PRAD-US 1 1720558 1720558 single base substitution G T downstream_gene_variant PRAD-US 1 1720558 1720558 single base substitution G T exon_variant PRAD-US 1 1720558 1720558 single base substitution G T missense_variant L284I 850C>A PRAD-US 1 1722002 1722002 single base substitution C T downstream_gene_variant PRAD-US 1 1722002 1722002 single base substitution C T exon_variant PRAD-US 1 1722002 1722002 single base substitution C T synonymous_variant T177T 531G>A READ-US 1 1721845 1721845 single base substitution T A downstream_gene_variant READ-US 1 1721845 1721845 single base substitution T A exon_variant READ-US 1 1721845 1721845 single base substitution T A missense_variant N230Y 688A>T RECA-EU 1 1712059 1712059 single base substitution A T downstream_gene_variant RECA-EU 1 1717488 1717488 single base substitution C T 3_prime_UTR_variant RECA-EU 1 1717488 1717488 single base substitution C T downstream_gene_variant RECA-EU 1 1751312 1751312 single base substitution A G intron_variant RECA-EU 1 1751312 1751312 single base substitution A G upstream_gene_variant RECA-EU 1 1766846 1766846 single base substitution A G intron_variant RECA-EU 1 1766846 1766846 single base substitution A G upstream_gene_variant RECA-EU 1 1767164 1767164 single base substitution G T intron_variant RECA-EU 1 1767164 1767164 single base substitution G T upstream_gene_variant RECA-EU 1 1772180 1772180 single base substitution C G intron_variant RECA-EU 1 1784126 1784126 single base substitution A G intron_variant RECA-EU 1 1800898 1800898 single base substitution G A intron_variant RECA-EU 1 1804956 1804956 single base substitution A T intron_variant RECA-EU 1 1805115 1805115 single base substitution C G intron_variant RECA-EU 1 1808278 1808278 single base substitution C T intron_variant RECA-EU 1 1823115 1823115 single base substitution G A upstream_gene_variant RECA-EU 1 1827238 1827238 single base substitution T A upstream_gene_variant SKCA-BR 1 1712337 1712337 single base substitution C A downstream_gene_variant SKCA-BR 1 1713956 1713956 single base substitution G C downstream_gene_variant SKCA-BR 1 1721150 1721150 single base substitution A G downstream_gene_variant SKCA-BR 1 1721150 1721150 single base substitution A G intron_variant SKCA-BR 1 1725229 1725229 single base substitution G A exon_variant SKCA-BR 1 1725229 1725229 single base substitution G A intron_variant SKCA-BR 1 1726507 1726507 single base substitution G A intron_variant SKCA-BR 1 1726507 1726507 single base substitution G A upstream_gene_variant SKCA-BR 1 1727326 1727326 single base substitution G A intron_variant SKCA-BR 1 1727326 1727326 single base substitution G A upstream_gene_variant SKCA-BR 1 1731182 1731182 single base substitution G A downstream_gene_variant SKCA-BR 1 1731182 1731182 single base substitution G A intron_variant SKCA-BR 1 1733040 1733040 single base substitution A G downstream_gene_variant SKCA-BR 1 1733040 1733040 single base substitution A G intron_variant SKCA-BR 1 1734202 1734202 insertion of <=200bp - TAAA downstream_gene_variant SKCA-BR 1 1734202 1734202 insertion of <=200bp - TAAA intron_variant SKCA-BR 1 1735441 1735443 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 1 1735441 1735443 deletion of <=200bp AAG - intron_variant SKCA-BR 1 1735442 1735443 deletion of <=200bp AG - downstream_gene_variant SKCA-BR 1 1735442 1735443 deletion of <=200bp AG - intron_variant SKCA-BR 1 1735443 1735443 single base substitution G A downstream_gene_variant SKCA-BR 1 1735443 1735443 single base substitution G A intron_variant SKCA-BR 1 1740628 1740629 deletion of <=200bp AT - intron_variant SKCA-BR 1 1741516 1741516 single base substitution T A intron_variant SKCA-BR 1 1742522 1742522 single base substitution T A intron_variant SKCA-BR 1 1750664 1750664 insertion of <=200bp - AT intron_variant SKCA-BR 1 1750664 1750664 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 1 1750947 1750947 single base substitution A C intron_variant SKCA-BR 1 1750947 1750947 single base substitution A C upstream_gene_variant SKCA-BR 1 1752832 1752832 single base substitution A G downstream_gene_variant SKCA-BR 1 1752832 1752832 single base substitution A G intron_variant SKCA-BR 1 1752832 1752832 single base substitution A G upstream_gene_variant SKCA-BR 1 1754050 1754050 single base substitution G A downstream_gene_variant SKCA-BR 1 1754050 1754050 single base substitution G A intron_variant SKCA-BR 1 1754050 1754050 single base substitution G A upstream_gene_variant SKCA-BR 1 1756739 1756739 single base substitution T C exon_variant SKCA-BR 1 1756739 1756739 single base substitution T C intron_variant SKCA-BR 1 1759795 1759795 single base substitution T G intron_variant SKCA-BR 1 1759795 1759795 single base substitution T G upstream_gene_variant SKCA-BR 1 1761825 1761825 single base substitution C T intron_variant SKCA-BR 1 1761825 1761825 single base substitution C T upstream_gene_variant SKCA-BR 1 1762174 1762174 single base substitution C T intron_variant SKCA-BR 1 1765160 1765160 single base substitution T C intron_variant SKCA-BR 1 1765160 1765160 single base substitution T C upstream_gene_variant SKCA-BR 1 1766963 1766963 single base substitution G A intron_variant SKCA-BR 1 1766963 1766963 single base substitution G A upstream_gene_variant SKCA-BR 1 1766982 1766982 single base substitution A C intron_variant SKCA-BR 1 1766982 1766982 single base substitution A C upstream_gene_variant SKCA-BR 1 1767353 1767353 insertion of <=200bp - TAA intron_variant SKCA-BR 1 1767353 1767353 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 1 1767826 1767827 deletion of <=200bp CT - intron_variant SKCA-BR 1 1767826 1767827 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 1768694 1768694 insertion of <=200bp - AT intron_variant SKCA-BR 1 1768694 1768694 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 1 1772334 1772334 insertion of <=200bp - AT intron_variant SKCA-BR 1 1774708 1774708 single base substitution G A intron_variant SKCA-BR 1 1776944 1776944 single base substitution G A intron_variant SKCA-BR 1 1777448 1777448 insertion of <=200bp - AT intron_variant SKCA-BR 1 1779795 1779796 deletion of <=200bp GC - intron_variant SKCA-BR 1 1783570 1783570 single base substitution G C intron_variant SKCA-BR 1 1786057 1786058 deletion of <=200bp GT - intron_variant SKCA-BR 1 1787491 1787491 single base substitution T G intron_variant SKCA-BR 1 1793808 1793808 single base substitution G A intron_variant SKCA-BR 1 1795776 1795776 single base substitution G A intron_variant SKCA-BR 1 1796727 1796727 single base substitution A T intron_variant SKCA-BR 1 1796729 1796729 single base substitution C A intron_variant SKCA-BR 1 1797103 1797103 single base substitution G A intron_variant SKCA-BR 1 1798326 1798326 single base substitution G A intron_variant SKCA-BR 1 1805391 1805391 single base substitution G A intron_variant SKCA-BR 1 1808554 1808554 single base substitution A G intron_variant SKCA-BR 1 1808754 1808754 single base substitution A T intron_variant SKCA-BR 1 1812033 1812033 single base substitution A T intron_variant SKCA-BR 1 1812406 1812406 single base substitution A C intron_variant SKCA-BR 1 1816990 1816991 deletion of <=200bp CT - intron_variant SKCA-BR 1 1819250 1819250 single base substitution C T intron_variant SKCA-BR 1 1821317 1821317 single base substitution A C intron_variant SKCA-BR 1 1822597 1822597 single base substitution C T upstream_gene_variant SKCA-BR 1 1826032 1826032 single base substitution A G upstream_gene_variant SKCM-US 1 1720551 1720551 single base substitution A C downstream_gene_variant SKCM-US 1 1720551 1720551 single base substitution A C exon_variant SKCM-US 1 1720551 1720551 single base substitution A C missense_variant L286R 857T>G SKCM-US 1 1721867 1721867 single base substitution G A downstream_gene_variant SKCM-US 1 1721867 1721867 single base substitution G A exon_variant SKCM-US 1 1721867 1721867 single base substitution G A synonymous_variant F222F 666C>T STAD-US 1 1721996 1721996 single base substitution C T downstream_gene_variant STAD-US 1 1721996 1721996 single base substitution C T exon_variant STAD-US 1 1721996 1721996 single base substitution C T synonymous_variant T179T 537G>A STAD-US 1 1735886 1735886 single base substitution G A downstream_gene_variant STAD-US 1 1735886 1735886 single base substitution G A exon_variant STAD-US 1 1735886 1735886 single base substitution G A synonymous_variant R121R 363C>T STAD-US 1 1735886 1735886 single base substitution G A synonymous_variant R134R 402C>T STAD-US 1 1736014 1736014 single base substitution C T exon_variant STAD-US 1 1736014 1736014 single base substitution C T missense_variant A79T 235G>A STAD-US 1 1736014 1736014 single base substitution C T missense_variant A92T 274G>A UCEC-US 1 1720561 1720561 single base substitution G A downstream_gene_variant UCEC-US 1 1720561 1720561 single base substitution G A exon_variant UCEC-US 1 1720561 1720561 single base substitution G A missense_variant R283C 847C>T UCEC-US 1 1735936 1735936 single base substitution C A downstream_gene_variant UCEC-US 1 1735936 1735936 single base substitution C A exon_variant UCEC-US 1 1735936 1735936 single base substitution C A missense_variant D105Y 313G>T UCEC-US 1 1735936 1735936 single base substitution C A missense_variant D118Y 352G>T UCEC-US 1 1737959 1737959 single base substitution C T exon_variant UCEC-US 1 1737959 1737959 single base substitution C T synonymous_variant S61S 183G>A UCEC-US 1 1737959 1737959 single base substitution C T synonymous_variant S74S 222G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AB-2805-03 COSM1317613 c.170A>C p.K57T Substitution - Missense 1:1815789-1815789 - 587238 COSM1208405 c.140C>T p.T47M Substitution - Missense 1:1815819-1815819 - TCGA-D9-A6EC-06 COSM4401726 c.857T>G p.L286R Substitution - Missense 1:1789112-1789112 - TCGA-32-2495-01 COSM3399998 c.840G>T p.K280N Substitution - Missense 1:1789129-1789129 - 587224 COSM1208406 c.647G>A p.G216D Substitution - Missense 1:1790447-1790447 - 8066037 COSM4387538 c.497+6T>G p.? Unknown 1:1793239-1793239 - SNUH_G22_S1 COSM3997080 c.32C>G p.A11G Substitution - Missense 1:1825422-1825422 - TCGA-AP-A051-01 COSM899621 c.847C>T p.R283C Substitution - Missense 1:1789122-1789122 - SNU-C4 COSM4615474 c.93_94delTC p.Q32fs*46 Deletion - Frameshift 1:1817839-1817840 - TCGA-AP-A0LM-01 COSM899791 c.222G>A p.S74S Substitution - coding silent 1:1806520-1806520 - QC2-18-T2 COSM5652585 c.884A>G p.N295S Substitution - Missense 1:1789085-1789085 - TCGA-CD-8536-01 COSM4025211 c.402C>T p.R134R Substitution - coding silent 1:1804447-1804447 - CLL052 COSM1290046 c.239T>C p.I80T Substitution - Missense 1:1806503-1806503 - TCGA-CM-6162-01 COSM1336289 c.519C>T p.T173T Substitution - coding silent 1:1790575-1790575 - J10_T COSM3976515 c.984G>C p.A328A Substitution - coding silent 1:1787370-1787370 - S02352 COSM5695257 c.76G>T p.A26S Substitution - Missense 1:1817857-1817857 - SC_9109 COSM2075068 c.699C>T p.C233C Substitution - coding silent 1:1790395-1790395 - TCGA-B5-A0K6-01 COSM899760 c.343G>T p.G115C Substitution - Missense 1:1804506-1804506 - TCGA-EJ-A65E-01 COSM4393198 c.531G>A p.T177T Substitution - coding silent 1:1790563-1790563 - MOLT-4 COSM1667074 c.676G>A p.E226K Substitution - Missense 1:1790418-1790418 - B60 COSM1747940 c.630C>G p.L210L Substitution - coding silent 1:1790464-1790464 - YUWAND COSM1686881 c.55C>T p.R19* Substitution - Nonsense 1:1825399-1825399 - TCGA-20-1687-01 COSM378855 c.342C>T p.C114C Substitution - coding silent 1:1804507-1804507 - YUKLAB COSM1686880 c.842G>A p.S281N Substitution - Missense 1:1789127-1789127 - S00501 COSM311500 c.32C>T p.A11V Substitution - Missense 1:1825422-1825422 - LUAD-RT-S01831 COSM384173 c.814G>A p.G272R Substitution - Missense 1:1789155-1789155 - 18195 COSM1295520 c.3G>T p.M1I Substitution - Missense 1:1825451-1825451 - PD11327a COSM5798525 c.756G>A p.L252L Substitution - coding silent 1:1789213-1789213 - SC_9099 COSM2075070 c.543C>T p.T181T Substitution - coding silent 1:1790551-1790551 - KYSE-180 COSM2075110 c.447C>T p.C149C Substitution - coding silent 1:1793295-1793295 - Pat_59_B COSM1667075 c.640C>T p.R214* Substitution - Nonsense 1:1790454-1790454 - LUAD-5V8LT COSM400736 c.910C>G p.R304G Substitution - Missense 1:1789059-1789059 - B60-Tumor COSM1747940 c.630C>G p.L210L Substitution - coding silent 1:1790464-1790464 - TCGA-E5-A2PC-01 COSM1295520 c.3G>T p.M1I Substitution - Missense 1:1825451-1825451 - Pat_36_B COSM1667075 c.640C>T p.R214* Substitution - Nonsense 1:1790454-1790454 - BD6T COSM5498712 c.833_835delTCT p.F278delF Deletion - In frame 1:1789134-1789136 - LUAD-RT-S01770 COSM381134 c.689A>G p.N230S Substitution - Missense 1:1790405-1790405 - LS180 COSM178240 c.946A>G p.S316G Substitution - Missense 1:1787408-1787408 - TCGA-P4-A5E6-01 COSM3984481 c.851T>G p.L284R Substitution - Missense 1:1789118-1789118 - 2250253 COSM5030331 c.92C>G p.S31C Substitution - Missense 1:1817841-1817841 - SJBALL063_D COSM4994175 c.265A>G p.K89E Substitution - Missense 1:1806477-1806477 - TCGA-AZ-4315-01 COSM1336456 c.111C>T p.I37I Substitution - coding silent 1:1815848-1815848 - MOLT-4 COSM1667075 c.640C>T p.R214* Substitution - Nonsense 1:1790454-1790454 - TCGA-DD-A11D-01 COSM4937945 c.684C>T p.D228D Substitution - coding silent 1:1790410-1790410 - TCGA-BH-A0HN-01 COSM424599 c.806T>C p.I269T Substitution - Missense 1:1789163-1789163 - 2521262 COSM5891601 c.856C>T p.L286F Substitution - Missense 1:1789113-1789113 - S01873 COSM5671944 c.685A>G p.I229V Substitution - Missense 1:1790409-1790409 - TCGA-BR-8487-01 COSM4025106 c.537G>A p.T179T Substitution - coding silent 1:1790557-1790557 - RK308_C01 COSM3740824 c.297G>T p.W99C Substitution - Missense 1:1804552-1804552 - CHC1611T COSM1662010 c.232A>G p.K78E Substitution - Missense 1:1806510-1806510 - ccRCC-10 COSM1662010 c.232A>G p.K78E Substitution - Missense 1:1806510-1806510 - LUAD-RT-S01702 COSM378855 c.342C>T p.C114C Substitution - coding silent 1:1804507-1804507 - TCGA-BP-4993-01 COSM463447 c.61G>T p.A21S Substitution - Missense 1:1817872-1817872 - T2969 COSM4687429 c.973A>T p.M325L Substitution - Missense 1:1787381-1787381 - TCGA-EE-A3JD-06 COSM4395620 c.666C>T p.F222F Substitution - coding silent 1:1790428-1790428 - TCGA-HU-A4G8-01 COSM4025212 c.274G>A p.A92T Substitution - Missense 1:1804575-1804575 - cSCCP8 COSM140341 c.160C>A p.H54N Substitution - Missense 1:1815799-1815799 - GC_383T-GC_383N COSM4774252 c.108C>T p.N36N Substitution - coding silent 1:1815851-1815851 - S02328 COSM5691703 c.911G>A p.R304Q Substitution - Missense 1:1789058-1789058 - TCGA-EI-6882-01 COSM3418338 c.688A>T p.N230Y Substitution - Missense 1:1790406-1790406 - TCGA-DK-A1AC-01 COSM1295486 c.778G>A p.E260K Substitution - Missense 1:1789191-1789191 - C91 COSM4444237 c.225G>T p.Q75H Substitution - Missense 1:1806517-1806517 - CHC1611T COSM1662010 c.232A>G p.K78E Substitution - Missense 1:1806510-1806510 - TCGA-A6-6781-01 COSM1336398 c.287G>A p.R96H Substitution - Missense 1:1804562-1804562 - TCGA-AD-6889-01 COSM1336288 c.594G>A p.L198L Substitution - coding silent 1:1790500-1790500 - pfg094T COSM4748560 c.403G>A p.V135M Substitution - Missense 1:1804446-1804446 - 015-08-01TD COSM1290046 c.239T>C p.I80T Substitution - Missense 1:1806503-1806503 - SJTALL013 COSM306074 c.227A>G p.D76G Substitution - Missense 1:1806515-1806515 - SJTALL013 COSM306074 c.227A>G p.D76G Substitution - Missense 1:1806515-1806515 - tAML-03 COSM211450 c.169A>G p.K57E Substitution - Missense 1:1815790-1815790 - LS174T COSM178240 c.946A>G p.S316G Substitution - Missense 1:1787408-1787408 - TCGA-AO-A128-01 COSM3802925 c.155G>A p.R52Q Substitution - Missense 1:1815804-1815804 - HT29 COSM2074996 c.957C>T p.G319G Substitution - coding silent 1:1787397-1787397 - 2492729 COSM5725796 c.734C>T p.S245L Substitution - Missense 1:1789235-1789235 - TCGA-G2-A2ES-01 COSM1295488 c.613G>A p.D205N Substitution - Missense 1:1790481-1790481 - BD242T COSM5495743 c.1005C>T p.F335F Substitution - coding silent 1:1787349-1787349 - SC_9058 COSM5567300 c.365C>T p.S122F Substitution - Missense 1:1804484-1804484 - SJBALL239_D COSM4994229 c.346G>A p.G116S Substitution - Missense 1:1804503-1804503 - HCT8 COSM4633420 c.178G>A p.A60T Substitution - Missense 1:1815781-1815781 - SJHGG014_D COSM4970075 c.266A>C p.K89T Substitution - Missense 1:1806476-1806476 - TCGA-DK-A1AC-01 COSM1295487 c.772G>A p.D258N Substitution - Missense 1:1789197-1789197 - TCGA-85-6561-01 COSM530801 c.56G>T p.R19L Substitution - Missense 1:1825398-1825398 - TCGA-AA-A00N-01 COSM275318 c.597C>T p.F199F Substitution - coding silent 1:1790497-1790497 - CLL007 COSM1290046 c.239T>C p.I80T Substitution - Missense 1:1806503-1806503 - CN-AML-CR-29-Dx COSM211450 c.169A>G p.K57E Substitution - Missense 1:1815790-1815790 - ESCC_BICR_028T COSM5431648 c.655C>T p.R219W Substitution - Missense 1:1790439-1790439 - TCGA-AX-A05S-01 COSM899758 c.352G>T p.D118Y Substitution - Missense 1:1804497-1804497 - CSCC-27-T COSM4487864 c.323C>T p.S108F Substitution - Missense 1:1804526-1804526 - CX-1 COSM2074996 c.957C>T p.G319G Substitution - coding silent 1:1787397-1787397 - TCGA-KK-A59V-01 COSM4878649 c.850C>A p.L284I Substitution - Missense 1:1789119-1789119 - TCGA-DK-A3IU-01 COSM3789116 c.94C>A p.Q32K Substitution - Missense 1:1817839-1817839 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.430300;Hs.430425 1p36.33 139380

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I269T c.806T>C 1 1720602 BRCA A G Missense p.I80T c.239T>C 1 1737942 CLL C A Missense p.A21S c.61G>T 1 1749311 RCCC C A Missense p.D118Y c.352G>T 1 1735936 UCEC C A Missense p.K280N c.840G>T 1 1720568 GBM C A Missense p.M1I c.3G>T 1 1756890 BLCA C A Missense p.R19L c.56G>T 1 1756837 LUSC C G SpliceDonorSNV . c.699+1G>C 1 1721833 LUAD C T Missense p.D205N c.613G>A 1 1721920 BLCA C T Missense p.D228N c.682G>A 1 1721851 HNSC C T Missense p.G53E c.158G>A 1 1747240 ALL C T Missense p.R256H c.767G>A 1 1720641 HNSC C T Synonymous p.T177T c.531G>A 1 1722002 PRAD G A Missense p.A11V c.32C>T 1 1756861 SCLC G A Synonymous p.F222F c.666C>T 1 1721867 CM G T Missense p.Q32K c.94C>A 1 1749278 BLCA T A 3-UTRSNV . c.1020+1546A>T 1 1717227 HC T A 3-UTRSNV . c.1020+910A>T 1 1717863 HC T C 3-UTRSNV . c.1020+1224A>G 1 1717549 HC T G Missense p.E215D c.645A>C 1 1721888 RCCC T G Missense p.K57T c.170A>C 1 1747228 AML