Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 9 36375992 36375992 + Nonsense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr9:36375992G>A c.295C>T c.(295-297)Cga>Tga p.R99* BRCA 9 36344831 36344831 + Silent SNP A A G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 g.chr9:36344831A>G c.1383T>C c.(1381-1383)acT>acC p.T461T BRCA 9 36353283 36353283 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr9:36353283G>A c.955C>T c.(955-957)Ctt>Ttt p.L319F CHOL 9 36376031 36376031 + Missense_Mutation SNP G G T TCGA-3X-AAVB-01A-31D-A417-09 TCGA-3X-AAVB-10A-01D-A41A-09 g.chr9:36376031G>T c.256C>A c.(256-258)Cca>Aca p.P86T COAD 9 36352794 36352794 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr9:36352794A>G c.1123T>C c.(1123-1125)Tcc>Ccc p.S375P COAD 9 36352823 36352823 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:36352823C>T c.1094G>A c.(1093-1095)cGg>cAg p.R365Q COAD 9 36352823 36352823 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr9:36352823C>T c.1094G>A c.(1093-1095)cGg>cAg p.R365Q COAD 9 36356447 36356447 + Silent SNP C C T TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr9:36356447C>T c.762G>A c.(760-762)caG>caA p.Q254Q COAD 9 36357936 36357936 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:36357936G>T c.574C>A c.(574-576)Cat>Aat p.H192N COAD 9 36369716 36369716 + Splice_Site SNP C C T TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr9:36369716C>T c.570G>A c.(568-570)caG>caA p.Q190Q COADREAD 9 36352794 36352794 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr9:36352794A>G c.1123T>C c.(1123-1125)Tcc>Ccc p.S375P COADREAD 9 36352823 36352823 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:36352823C>T c.1094G>A c.(1093-1095)cGg>cAg p.R365Q COADREAD 9 36352823 36352823 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr9:36352823C>T c.1094G>A c.(1093-1095)cGg>cAg p.R365Q COADREAD 9 36356447 36356447 + Silent SNP C C T TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr9:36356447C>T c.762G>A c.(760-762)caG>caA p.Q254Q COADREAD 9 36356448 36356448 + Missense_Mutation SNP T T C TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr9:36356448T>C c.761A>G c.(760-762)cAg>cGg p.Q254R COADREAD 9 36357936 36357936 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:36357936G>T c.574C>A c.(574-576)Cat>Aat p.H192N COADREAD 9 36369716 36369716 + Splice_Site SNP C C T TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr9:36369716C>T c.570G>A c.(568-570)caG>caA p.Q190Q GBMLGG 9 36357831 36357831 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:36357831G>T c.679C>A c.(679-681)Cca>Aca p.P227T HNSC 9 36375984 36375984 + Silent SNP G G A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr9:36375984G>A c.303C>T c.(301-303)agC>agT p.S101S KIPAN 9 36376116 36376116 + Missense_Mutation SNP A A T TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr9:36376116A>T c.171T>A c.(169-171)gaT>gaA p.D57E KIRC 9 36376116 36376116 + Missense_Mutation SNP A A T TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr9:36376116A>T c.171T>A c.(169-171)gaT>gaA p.D57E LGG 9 36357831 36357831 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:36357831G>T c.679C>A c.(679-681)Cca>Aca p.P227T LUAD 9 36353229 36353229 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 g.chr9:36353229G>C c.1009C>G c.(1009-1011)Cca>Gca p.P337A LUAD 9 36356313 36356313 + Missense_Mutation SNP T T A TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr9:36356313T>A c.896A>T c.(895-897)cAg>cTg p.Q299L LUAD 9 36356416 36356416 + Missense_Mutation SNP G G A TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr9:36356416G>A c.793C>T c.(793-795)Ccc>Tcc p.P265S LUAD 9 36356463 36356463 + Missense_Mutation SNP T T A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr9:36356463T>A c.746A>T c.(745-747)cAg>cTg p.Q249L LUAD 9 36369894 36369894 + Missense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr9:36369894C>T c.392G>A c.(391-393)cGt>cAt p.R131H OV 9 36353241 36353241 + Missense_Mutation SNP G G C TCGA-29-1707-01A-01W-0633-09 TCGA-29-1707-10A-01W-0633-09 g.chr9:36353241G>C c.997C>G c.(997-999)Cca>Gca p.P333A PAAD 9 36339793 36339793 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr9:36339793T>C c.1504A>G c.(1504-1506)Att>Gtt p.I502V PAAD 9 36351123 36351123 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr9:36351123C>G c.1252G>C c.(1252-1254)Gaa>Caa p.E418Q PAAD 9 36351150 36351150 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr9:36351150C>T c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K PAAD 9 36390574 36390574 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr9:36390574G>C c.52C>G c.(52-54)Cct>Gct p.P18A PRAD 9 36351115 36351115 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:36351115G>A c.1260C>T c.(1258-1260)taC>taT p.Y420Y READ 9 36356448 36356448 + Missense_Mutation SNP T T C TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr9:36356448T>C c.761A>G c.(760-762)cAg>cGg p.Q254R SARC 9 36390529 36390529 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 g.chr9:36390529G>A c.97C>T c.(97-99)Cct>Tct p.P33S SARC 9 36390530 36390530 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 g.chr9:36390530G>A c.96C>T c.(94-96)ttC>ttT p.F32F SARC 9 36390607 36390607 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 g.chr9:36390607G>A c.19C>T c.(19-21)Ccc>Tcc p.P7S SKCM 9 36352839 36352839 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:36352839G>A c.1078C>T c.(1078-1080)Cct>Tct p.P360S SKCM 9 36357773 36357773 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr9:36357773G>A c.737C>T c.(736-738)cCa>cTa p.P246L SKCM 9 36390467 36390467 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr9:36390467G>A c.159C>T c.(157-159)ttC>ttT p.F53F SKCM 9 36390535 36390535 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr9:36390535G>A c.91C>T c.(91-93)Ctg>Ttg p.L31L SKCM 9 36390574 36390574 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr9:36390574G>A c.52C>T c.(52-54)Cct>Tct p.P18S

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 9 36344881 36344881 single base substitution G A stop_gained Q362* 1084C>T BLCA-CN 9 36344881 36344881 single base substitution G A stop_gained Q369* 1105C>T BLCA-CN 9 36344881 36344881 single base substitution G A stop_gained Q395* 1183C>T BLCA-CN 9 36344881 36344881 single base substitution G A stop_gained Q445* 1333C>T BOCA-FR 9 36339496 36339496 single base substitution G A 3_prime_UTR_variant BOCA-FR 9 36339496 36339496 single base substitution G A downstream_gene_variant BOCA-FR 9 36479684 36479684 single base substitution T C intron_variant BRCA-EU 9 36332422 36332422 single base substitution A T downstream_gene_variant BRCA-EU 9 36332489 36332489 single base substitution C A downstream_gene_variant BRCA-EU 9 36332786 36332786 single base substitution G C downstream_gene_variant BRCA-EU 9 36334756 36334756 single base substitution G A downstream_gene_variant BRCA-EU 9 36335980 36335980 single base substitution C G downstream_gene_variant BRCA-EU 9 36338808 36338808 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 9 36338808 36338808 insertion of <=200bp - A downstream_gene_variant BRCA-EU 9 36338885 36338885 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 36338885 36338885 single base substitution T C downstream_gene_variant BRCA-EU 9 36339574 36339574 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 36339574 36339574 single base substitution C T downstream_gene_variant BRCA-EU 9 36339784 36339784 single base substitution C G missense_variant A422P 1264G>C BRCA-EU 9 36339784 36339784 single base substitution C G missense_variant A429P 1285G>C BRCA-EU 9 36339784 36339784 single base substitution C G missense_variant A455P 1363G>C BRCA-EU 9 36339784 36339784 single base substitution C G missense_variant A505P 1513G>C BRCA-EU 9 36340936 36340936 single base substitution C G intron_variant BRCA-EU 9 36341248 36341248 insertion of <=200bp - T intron_variant BRCA-EU 9 36343537 36343537 single base substitution C G intron_variant BRCA-EU 9 36344308 36344308 single base substitution G A intron_variant BRCA-EU 9 36345074 36345074 single base substitution C A intron_variant BRCA-EU 9 36347353 36347353 single base substitution G A intron_variant BRCA-EU 9 36347594 36347594 single base substitution T C intron_variant BRCA-EU 9 36349403 36349403 single base substitution T C intron_variant BRCA-EU 9 36349470 36349470 single base substitution T C intron_variant BRCA-EU 9 36349582 36349582 single base substitution T C intron_variant BRCA-EU 9 36349621 36349621 single base substitution C G intron_variant BRCA-EU 9 36349876 36349876 single base substitution C G intron_variant BRCA-EU 9 36349890 36349890 single base substitution C T intron_variant BRCA-EU 9 36350277 36350277 single base substitution T A intron_variant BRCA-EU 9 36350322 36350322 single base substitution C T intron_variant BRCA-EU 9 36350346 36350346 single base substitution C G intron_variant BRCA-EU 9 36351642 36351642 single base substitution G A downstream_gene_variant BRCA-EU 9 36351642 36351642 single base substitution G A intron_variant BRCA-EU 9 36355180 36355180 single base substitution G A downstream_gene_variant BRCA-EU 9 36355180 36355180 single base substitution G A intron_variant BRCA-EU 9 36355185 36355185 single base substitution G A downstream_gene_variant BRCA-EU 9 36355185 36355185 single base substitution G A intron_variant BRCA-EU 9 36356745 36356745 deletion of <=200bp G - intron_variant BRCA-EU 9 36357196 36357196 deletion of <=200bp A - intron_variant BRCA-EU 9 36357196 36357196 single base substitution A T intron_variant BRCA-EU 9 36358966 36358966 single base substitution C A intron_variant BRCA-EU 9 36358967 36358967 single base substitution C A intron_variant BRCA-EU 9 36359001 36359001 deletion of <=200bp T - intron_variant BRCA-EU 9 36361327 36361327 insertion of <=200bp - T intron_variant BRCA-EU 9 36361981 36361981 single base substitution A C intron_variant BRCA-EU 9 36363054 36363054 single base substitution G A intron_variant BRCA-EU 9 36364727 36364727 single base substitution C A downstream_gene_variant BRCA-EU 9 36364727 36364727 single base substitution C A intron_variant BRCA-EU 9 36365772 36365772 single base substitution C A downstream_gene_variant BRCA-EU 9 36365772 36365772 single base substitution C A intron_variant BRCA-EU 9 36365808 36365808 single base substitution G A downstream_gene_variant BRCA-EU 9 36365808 36365808 single base substitution G A intron_variant BRCA-EU 9 36365986 36365986 single base substitution T C downstream_gene_variant BRCA-EU 9 36365986 36365986 single base substitution T C intron_variant BRCA-EU 9 36366578 36366578 single base substitution C G downstream_gene_variant BRCA-EU 9 36366578 36366578 single base substitution C G intron_variant BRCA-EU 9 36366749 36366749 deletion of <=200bp G - downstream_gene_variant BRCA-EU 9 36366749 36366749 deletion of <=200bp G - intron_variant BRCA-EU 9 36367265 36367265 single base substitution G A downstream_gene_variant BRCA-EU 9 36367265 36367265 single base substitution G A intron_variant BRCA-EU 9 36367813 36367813 single base substitution C T downstream_gene_variant BRCA-EU 9 36367813 36367813 single base substitution C T intron_variant BRCA-EU 9 36368523 36368523 single base substitution C A downstream_gene_variant BRCA-EU 9 36368523 36368523 single base substitution C A intron_variant BRCA-EU 9 36369092 36369092 single base substitution C T downstream_gene_variant BRCA-EU 9 36369092 36369092 single base substitution C T intron_variant BRCA-EU 9 36369196 36369196 single base substitution C G downstream_gene_variant BRCA-EU 9 36369196 36369196 single base substitution C G intron_variant BRCA-EU 9 36369409 36369409 single base substitution G A downstream_gene_variant BRCA-EU 9 36369409 36369409 single base substitution G A intron_variant BRCA-EU 9 36369810 36369810 single base substitution C T exon_variant BRCA-EU 9 36369810 36369810 single base substitution C T missense_variant R109Q 326G>A BRCA-EU 9 36369810 36369810 single base substitution C T missense_variant R159Q 476G>A BRCA-EU 9 36369810 36369810 single base substitution C T missense_variant R76Q 227G>A BRCA-EU 9 36369810 36369810 single base substitution C T missense_variant R83Q 248G>A BRCA-EU 9 36369974 36369974 single base substitution C T intron_variant BRCA-EU 9 36370578 36370578 single base substitution T C intron_variant BRCA-EU 9 36372773 36372773 single base substitution G C downstream_gene_variant BRCA-EU 9 36372773 36372773 single base substitution G C intron_variant BRCA-EU 9 36375362 36375362 insertion of <=200bp - T downstream_gene_variant BRCA-EU 9 36375362 36375362 insertion of <=200bp - T intron_variant BRCA-EU 9 36375689 36375689 single base substitution C A downstream_gene_variant BRCA-EU 9 36375689 36375689 single base substitution C A intron_variant BRCA-EU 9 36376240 36376240 deletion of <=200bp A - intron_variant BRCA-EU 9 36379215 36379215 single base substitution C A intron_variant BRCA-EU 9 36380659 36380659 deletion of <=200bp A - intron_variant BRCA-EU 9 36380931 36380931 single base substitution C G intron_variant BRCA-EU 9 36382915 36382915 single base substitution G A intron_variant BRCA-EU 9 36383898 36383898 single base substitution T C intron_variant BRCA-EU 9 36384580 36384580 single base substitution C T intron_variant BRCA-EU 9 36384658 36384658 single base substitution C G intron_variant BRCA-EU 9 36385486 36385486 single base substitution C A intron_variant BRCA-EU 9 36386158 36386158 single base substitution T C intron_variant BRCA-EU 9 36387057 36387057 single base substitution C G intron_variant BRCA-EU 9 36387610 36387610 single base substitution C T intron_variant BRCA-EU 9 36388828 36388828 single base substitution A C intron_variant BRCA-EU 9 36389259 36389259 single base substitution G A intron_variant BRCA-EU 9 36389838 36389838 single base substitution C T intron_variant BRCA-EU 9 36390539 36390539 single base substitution C T 5_prime_UTR_variant BRCA-EU 9 36390539 36390539 single base substitution C T exon_variant BRCA-EU 9 36390539 36390539 single base substitution C T intron_variant BRCA-EU 9 36390539 36390539 single base substitution C T synonymous_variant Q29Q 87G>A BRCA-EU 9 36394092 36394092 single base substitution T C intron_variant BRCA-EU 9 36394349 36394349 single base substitution C G intron_variant BRCA-EU 9 36394801 36394801 single base substitution C T intron_variant BRCA-EU 9 36395026 36395026 single base substitution C G intron_variant BRCA-EU 9 36395311 36395311 single base substitution C G intron_variant BRCA-EU 9 36397590 36397590 single base substitution G A intron_variant BRCA-EU 9 36398713 36398713 single base substitution A G intron_variant BRCA-EU 9 36401699 36401699 single base substitution A T intron_variant BRCA-EU 9 36401699 36401699 single base substitution A T upstream_gene_variant BRCA-EU 9 36401779 36401779 single base substitution T G intron_variant BRCA-EU 9 36401779 36401779 single base substitution T G upstream_gene_variant BRCA-EU 9 36401923 36401923 single base substitution C G intron_variant BRCA-EU 9 36401923 36401923 single base substitution C G upstream_gene_variant BRCA-EU 9 36404506 36404506 single base substitution A G intron_variant BRCA-EU 9 36404506 36404506 single base substitution A G upstream_gene_variant BRCA-EU 9 36405161 36405161 single base substitution T G intron_variant BRCA-EU 9 36405161 36405161 single base substitution T G upstream_gene_variant BRCA-EU 9 36406376 36406376 single base substitution T C intron_variant BRCA-EU 9 36407613 36407613 single base substitution T C intron_variant BRCA-EU 9 36409343 36409343 insertion of <=200bp - A intron_variant BRCA-EU 9 36412607 36412607 single base substitution G A intron_variant BRCA-EU 9 36414025 36414033 deletion of <=200bp GTCTGATAT - intron_variant BRCA-EU 9 36416053 36416053 single base substitution C T intron_variant BRCA-EU 9 36416265 36416265 single base substitution G A intron_variant BRCA-EU 9 36416935 36416935 single base substitution G A intron_variant BRCA-EU 9 36418399 36418399 single base substitution C A intron_variant BRCA-EU 9 36418734 36418734 single base substitution G A intron_variant BRCA-EU 9 36419667 36419667 single base substitution G A intron_variant BRCA-EU 9 36419687 36419687 single base substitution A G intron_variant BRCA-EU 9 36420033 36420033 single base substitution A T intron_variant BRCA-EU 9 36420104 36420104 single base substitution G T intron_variant BRCA-EU 9 36421358 36421358 insertion of <=200bp - T intron_variant BRCA-EU 9 36422431 36422431 single base substitution A C intron_variant BRCA-EU 9 36422856 36422856 single base substitution A G intron_variant BRCA-EU 9 36422940 36422940 single base substitution G A intron_variant BRCA-EU 9 36425207 36425207 single base substitution C A intron_variant BRCA-EU 9 36425289 36425289 single base substitution T A intron_variant BRCA-EU 9 36425692 36425692 insertion of <=200bp - A intron_variant BRCA-EU 9 36425870 36425870 single base substitution T G intron_variant BRCA-EU 9 36427915 36427915 single base substitution C T intron_variant BRCA-EU 9 36427986 36427986 single base substitution C T intron_variant BRCA-EU 9 36428027 36428027 single base substitution C T intron_variant BRCA-EU 9 36429376 36429376 single base substitution G A intron_variant BRCA-EU 9 36429553 36429553 single base substitution G A intron_variant BRCA-EU 9 36429801 36429801 single base substitution A T intron_variant BRCA-EU 9 36430728 36430728 single base substitution C T intron_variant BRCA-EU 9 36431382 36431382 single base substitution T C intron_variant BRCA-EU 9 36431780 36431780 single base substitution G A intron_variant BRCA-EU 9 36432589 36432589 single base substitution A C intron_variant BRCA-EU 9 36433876 36433876 single base substitution G C intron_variant BRCA-EU 9 36435407 36435407 single base substitution C A intron_variant BRCA-EU 9 36435478 36435478 single base substitution T C intron_variant BRCA-EU 9 36436595 36436595 single base substitution C A intron_variant BRCA-EU 9 36437557 36437557 single base substitution A T intron_variant BRCA-EU 9 36437558 36437558 single base substitution A T intron_variant BRCA-EU 9 36438541 36438541 single base substitution C G intron_variant BRCA-EU 9 36440573 36440573 single base substitution T G intron_variant BRCA-EU 9 36441813 36441813 single base substitution C T intron_variant BRCA-EU 9 36442304 36442304 deletion of <=200bp C - intron_variant BRCA-EU 9 36442310 36442310 single base substitution T A intron_variant BRCA-EU 9 36442762 36442762 single base substitution G C intron_variant BRCA-EU 9 36443302 36443302 single base substitution A C intron_variant BRCA-EU 9 36444025 36444025 single base substitution C G intron_variant BRCA-EU 9 36444628 36444628 single base substitution C G intron_variant BRCA-EU 9 36446002 36446002 single base substitution C T intron_variant BRCA-EU 9 36446200 36446200 single base substitution C T intron_variant BRCA-EU 9 36446306 36446306 single base substitution C T intron_variant BRCA-EU 9 36446325 36446325 single base substitution C A intron_variant BRCA-EU 9 36446667 36446667 single base substitution T C intron_variant BRCA-EU 9 36447956 36447956 single base substitution G A intron_variant BRCA-EU 9 36448309 36448309 single base substitution C G intron_variant BRCA-EU 9 36449176 36449176 single base substitution T C intron_variant BRCA-EU 9 36449256 36449256 single base substitution C T intron_variant BRCA-EU 9 36449432 36449432 deletion of <=200bp T - intron_variant BRCA-EU 9 36451631 36451631 single base substitution G A intron_variant BRCA-EU 9 36451745 36451745 single base substitution C T intron_variant BRCA-EU 9 36452083 36452083 single base substitution G A intron_variant BRCA-EU 9 36452171 36452171 single base substitution C T intron_variant BRCA-EU 9 36453001 36453001 single base substitution C T intron_variant BRCA-EU 9 36453886 36453886 single base substitution G T intron_variant BRCA-EU 9 36455840 36455840 single base substitution G A intron_variant BRCA-EU 9 36457069 36457069 single base substitution G A intron_variant BRCA-EU 9 36457834 36457834 single base substitution C T intron_variant BRCA-EU 9 36459223 36459223 single base substitution G C intron_variant BRCA-EU 9 36460682 36460682 single base substitution C G intron_variant BRCA-EU 9 36461593 36461593 single base substitution A T intron_variant BRCA-EU 9 36461956 36461956 single base substitution G A intron_variant BRCA-EU 9 36462219 36462219 single base substitution A C intron_variant BRCA-EU 9 36462304 36462304 single base substitution A T intron_variant BRCA-EU 9 36462327 36462327 single base substitution C T intron_variant BRCA-EU 9 36462907 36462907 single base substitution G A intron_variant BRCA-EU 9 36465007 36465007 deletion of <=200bp A - intron_variant BRCA-EU 9 36465542 36465542 single base substitution A G intron_variant BRCA-EU 9 36467068 36467068 single base substitution C G intron_variant BRCA-EU 9 36467919 36467919 single base substitution G A intron_variant BRCA-EU 9 36469232 36469232 single base substitution G T intron_variant BRCA-EU 9 36469371 36469371 single base substitution C G intron_variant BRCA-EU 9 36470214 36470214 single base substitution C G intron_variant BRCA-EU 9 36470301 36470301 single base substitution C T intron_variant BRCA-EU 9 36470777 36470777 single base substitution G A intron_variant BRCA-EU 9 36471117 36471117 single base substitution G C intron_variant BRCA-EU 9 36471969 36471969 insertion of <=200bp - T intron_variant BRCA-EU 9 36476233 36476233 single base substitution C G intron_variant BRCA-EU 9 36478512 36478512 single base substitution A T intron_variant BRCA-EU 9 36478908 36478908 single base substitution A C intron_variant BRCA-EU 9 36481603 36481603 single base substitution T C intron_variant BRCA-EU 9 36482207 36482207 single base substitution C T intron_variant BRCA-EU 9 36482743 36482743 single base substitution G A intron_variant BRCA-EU 9 36483553 36483553 single base substitution C T intron_variant BRCA-EU 9 36484382 36484382 single base substitution G C intron_variant BRCA-EU 9 36487921 36487921 single base substitution G C upstream_gene_variant BRCA-EU 9 36487981 36487981 single base substitution C T upstream_gene_variant BRCA-EU 9 36488111 36488111 single base substitution C G upstream_gene_variant BRCA-EU 9 36489284 36489284 single base substitution G C upstream_gene_variant BRCA-EU 9 36490812 36490812 single base substitution C T upstream_gene_variant BRCA-EU 9 36490890 36490890 single base substitution C G upstream_gene_variant BRCA-EU 9 36491606 36491606 single base substitution A C upstream_gene_variant BRCA-EU 9 36491965 36491965 single base substitution C A upstream_gene_variant BRCA-EU 9 36492183 36492183 single base substitution C T upstream_gene_variant BRCA-FR 9 36345074 36345074 single base substitution C A intron_variant BRCA-FR 9 36385354 36385354 single base substitution G T intron_variant BRCA-FR 9 36387610 36387610 single base substitution C T intron_variant BRCA-FR 9 36388465 36388465 single base substitution T C intron_variant BRCA-FR 9 36393896 36393896 single base substitution C T intron_variant BRCA-FR 9 36394801 36394801 single base substitution C T intron_variant BRCA-FR 9 36395311 36395311 single base substitution C G intron_variant BRCA-FR 9 36397590 36397590 single base substitution G A intron_variant BRCA-FR 9 36401923 36401923 single base substitution C G intron_variant BRCA-FR 9 36401923 36401923 single base substitution C G upstream_gene_variant BRCA-FR 9 36402921 36402921 single base substitution C T intron_variant BRCA-FR 9 36402921 36402921 single base substitution C T upstream_gene_variant BRCA-FR 9 36412607 36412607 single base substitution G A intron_variant BRCA-FR 9 36419667 36419667 single base substitution G A intron_variant BRCA-FR 9 36422218 36422218 single base substitution A T intron_variant BRCA-FR 9 36422940 36422940 single base substitution G A intron_variant BRCA-FR 9 36427407 36427407 single base substitution T C intron_variant BRCA-FR 9 36430728 36430728 single base substitution C T intron_variant BRCA-FR 9 36433439 36433439 single base substitution T A intron_variant BRCA-FR 9 36435392 36435392 single base substitution G A intron_variant BRCA-FR 9 36453886 36453886 single base substitution G T intron_variant BRCA-FR 9 36460682 36460682 single base substitution C G intron_variant BRCA-FR 9 36462907 36462907 single base substitution G A intron_variant BRCA-FR 9 36470301 36470301 single base substitution C T intron_variant BRCA-FR 9 36482743 36482743 single base substitution G A intron_variant BRCA-FR 9 36491606 36491606 single base substitution A C upstream_gene_variant BRCA-UK 9 36339574 36339574 single base substitution C T 3_prime_UTR_variant BRCA-UK 9 36339574 36339574 single base substitution C T downstream_gene_variant BRCA-UK 9 36343537 36343537 single base substitution C G intron_variant BRCA-UK 9 36414025 36414033 deletion of <=200bp GTCTGATAT - intron_variant BRCA-UK 9 36431382 36431382 single base substitution T C intron_variant BRCA-UK 9 36436595 36436595 single base substitution C A intron_variant BRCA-UK 9 36448309 36448309 single base substitution C G intron_variant BRCA-UK 9 36457225 36457225 single base substitution G A intron_variant BRCA-UK 9 36477213 36477213 single base substitution C T intron_variant BRCA-UK 9 36481603 36481603 single base substitution T C intron_variant BRCA-US 9 36344831 36344831 single base substitution A G splice_region_variant BRCA-US 9 36353283 36353283 single base substitution G A downstream_gene_variant BRCA-US 9 36353283 36353283 single base substitution G A missense_variant L236F 706C>T BRCA-US 9 36353283 36353283 single base substitution G A missense_variant L243F 727C>T BRCA-US 9 36353283 36353283 single base substitution G A missense_variant L269F 805C>T BRCA-US 9 36353283 36353283 single base substitution G A missense_variant L319F 955C>T CESC-US 9 36334956 36334956 single base substitution C A downstream_gene_variant CESC-US 9 36334956 36334956 single base substitution C T downstream_gene_variant CLLE-ES 9 36350548 36350548 single base substitution A C intron_variant CLLE-ES 9 36355392 36355392 single base substitution A G downstream_gene_variant CLLE-ES 9 36355392 36355392 single base substitution A G intron_variant CLLE-ES 9 36369100 36369100 single base substitution T C downstream_gene_variant CLLE-ES 9 36369100 36369100 single base substitution T C intron_variant CLLE-ES 9 36371902 36371902 single base substitution T C downstream_gene_variant CLLE-ES 9 36371902 36371902 single base substitution T C intron_variant CLLE-ES 9 36406400 36406400 single base substitution T C intron_variant CLLE-ES 9 36409526 36409526 single base substitution C T intron_variant CLLE-ES 9 36424082 36424082 single base substitution A C intron_variant CLLE-ES 9 36442669 36442669 single base substitution G A intron_variant CLLE-ES 9 36459744 36459744 single base substitution G C intron_variant COAD-US 9 36352823 36352823 single base substitution C T downstream_gene_variant COAD-US 9 36352823 36352823 single base substitution C T missense_variant R282Q 845G>A COAD-US 9 36352823 36352823 single base substitution C T missense_variant R289Q 866G>A COAD-US 9 36352823 36352823 single base substitution C T missense_variant R315Q 944G>A COAD-US 9 36352823 36352823 single base substitution C T missense_variant R365Q 1094G>A COCA-CN 9 36352952 36352952 single base substitution G A downstream_gene_variant COCA-CN 9 36352952 36352952 single base substitution G A intron_variant COCA-CN 9 36357907 36357907 single base substitution T G exon_variant COCA-CN 9 36357907 36357907 single base substitution T G synonymous_variant T118T 354A>C COCA-CN 9 36357907 36357907 single base substitution T G synonymous_variant T125T 375A>C COCA-CN 9 36357907 36357907 single base substitution T G synonymous_variant T151T 453A>C COCA-CN 9 36357907 36357907 single base substitution T G synonymous_variant T201T 603A>C COCA-CN 9 36369647 36369647 single base substitution A C downstream_gene_variant COCA-CN 9 36369647 36369647 single base substitution A C intron_variant COCA-CN 9 36372344 36372344 single base substitution G A downstream_gene_variant COCA-CN 9 36372344 36372344 single base substitution G A intron_variant COCA-CN 9 36376015 36376015 single base substitution G T 5_prime_UTR_variant COCA-CN 9 36376015 36376015 single base substitution G T exon_variant COCA-CN 9 36376015 36376015 single base substitution G T stop_gained S41* 122C>A COCA-CN 9 36376015 36376015 single base substitution G T stop_gained S8* 23C>A COCA-CN 9 36376015 36376015 single base substitution G T stop_gained S91* 272C>A COCA-CN 9 36407552 36407552 single base substitution A G intron_variant COCA-CN 9 36427691 36427691 single base substitution T C intron_variant COCA-CN 9 36436815 36436815 single base substitution C A intron_variant COCA-CN 9 36482325 36482325 single base substitution C T intron_variant COCA-CN 9 36482551 36482551 single base substitution T C intron_variant ESAD-UK 9 36332412 36332412 single base substitution T G downstream_gene_variant ESAD-UK 9 36334196 36334196 single base substitution T A downstream_gene_variant ESAD-UK 9 36339668 36339668 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 36343025 36343025 insertion of <=200bp - A intron_variant ESAD-UK 9 36343429 36343429 single base substitution G A intron_variant ESAD-UK 9 36345125 36345125 single base substitution T A intron_variant ESAD-UK 9 36351199 36351199 single base substitution G A splice_region_variant ESAD-UK 9 36351610 36351610 single base substitution A C downstream_gene_variant ESAD-UK 9 36351610 36351610 single base substitution A C intron_variant ESAD-UK 9 36351629 36351629 single base substitution G A downstream_gene_variant ESAD-UK 9 36351629 36351629 single base substitution G A intron_variant ESAD-UK 9 36352341 36352341 single base substitution T A downstream_gene_variant ESAD-UK 9 36352341 36352341 single base substitution T A intron_variant ESAD-UK 9 36352378 36352378 single base substitution C T downstream_gene_variant ESAD-UK 9 36352378 36352378 single base substitution C T intron_variant ESAD-UK 9 36356896 36356896 single base substitution C G intron_variant ESAD-UK 9 36358952 36358952 single base substitution G A intron_variant ESAD-UK 9 36360001 36360001 single base substitution C A intron_variant ESAD-UK 9 36363528 36363528 single base substitution T C intron_variant ESAD-UK 9 36364791 36364791 single base substitution T C downstream_gene_variant ESAD-UK 9 36364791 36364791 single base substitution T C intron_variant ESAD-UK 9 36366211 36366211 single base substitution A G downstream_gene_variant ESAD-UK 9 36366211 36366211 single base substitution A G intron_variant ESAD-UK 9 36366470 36366470 deletion of <=200bp A - downstream_gene_variant ESAD-UK 9 36366470 36366470 deletion of <=200bp A - intron_variant ESAD-UK 9 36370691 36370691 single base substitution C A intron_variant ESAD-UK 9 36378097 36378097 single base substitution A T intron_variant ESAD-UK 9 36378867 36378867 single base substitution C A intron_variant ESAD-UK 9 36380443 36380443 single base substitution C T intron_variant ESAD-UK 9 36390018 36390018 single base substitution G A intron_variant ESAD-UK 9 36391950 36391950 single base substitution C A intron_variant ESAD-UK 9 36393412 36393412 single base substitution T C intron_variant ESAD-UK 9 36397079 36397079 insertion of <=200bp - TA intron_variant ESAD-UK 9 36398415 36398415 single base substitution A T intron_variant ESAD-UK 9 36399827 36399827 single base substitution A C intron_variant ESAD-UK 9 36405135 36405135 single base substitution G A intron_variant ESAD-UK 9 36405135 36405135 single base substitution G A upstream_gene_variant ESAD-UK 9 36408678 36408678 single base substitution C G intron_variant ESAD-UK 9 36408943 36408943 single base substitution G A intron_variant ESAD-UK 9 36408970 36408970 single base substitution A C intron_variant ESAD-UK 9 36410145 36410145 single base substitution C A intron_variant ESAD-UK 9 36411795 36411795 single base substitution G C intron_variant ESAD-UK 9 36414540 36414540 single base substitution G A intron_variant ESAD-UK 9 36417220 36417220 single base substitution C T intron_variant ESAD-UK 9 36419528 36419528 single base substitution G A intron_variant ESAD-UK 9 36420258 36420258 single base substitution G C intron_variant ESAD-UK 9 36421688 36421688 single base substitution A T intron_variant ESAD-UK 9 36422431 36422431 single base substitution A C intron_variant ESAD-UK 9 36424997 36424997 single base substitution A C intron_variant ESAD-UK 9 36431250 36431250 single base substitution C T intron_variant ESAD-UK 9 36431338 36431338 single base substitution C G intron_variant ESAD-UK 9 36431537 36431537 single base substitution A C intron_variant ESAD-UK 9 36433320 36433320 insertion of <=200bp - C intron_variant ESAD-UK 9 36434950 36434950 single base substitution C T intron_variant ESAD-UK 9 36437175 36437175 single base substitution G T intron_variant ESAD-UK 9 36441608 36441608 single base substitution C T intron_variant ESAD-UK 9 36441698 36441698 single base substitution G A intron_variant ESAD-UK 9 36442516 36442516 single base substitution C A intron_variant ESAD-UK 9 36442659 36442659 single base substitution C A intron_variant ESAD-UK 9 36442775 36442775 deletion of <=200bp A - intron_variant ESAD-UK 9 36443319 36443319 single base substitution T C intron_variant ESAD-UK 9 36444033 36444033 single base substitution T C intron_variant ESAD-UK 9 36444688 36444688 single base substitution T A intron_variant ESAD-UK 9 36447432 36447432 single base substitution G A intron_variant ESAD-UK 9 36448410 36448410 single base substitution C A intron_variant ESAD-UK 9 36448978 36448978 single base substitution G A intron_variant ESAD-UK 9 36449979 36449979 single base substitution C G intron_variant ESAD-UK 9 36451146 36451146 single base substitution C T intron_variant ESAD-UK 9 36452064 36452064 single base substitution A T intron_variant ESAD-UK 9 36452147 36452147 single base substitution A G intron_variant ESAD-UK 9 36452644 36452644 single base substitution C T intron_variant ESAD-UK 9 36455108 36455108 single base substitution G A intron_variant ESAD-UK 9 36455477 36455477 single base substitution A C intron_variant ESAD-UK 9 36458626 36458626 single base substitution G A intron_variant ESAD-UK 9 36459195 36459195 single base substitution C G intron_variant ESAD-UK 9 36461566 36461566 single base substitution G A intron_variant ESAD-UK 9 36464969 36464969 single base substitution T C intron_variant ESAD-UK 9 36469232 36469232 single base substitution G T intron_variant ESAD-UK 9 36469615 36469615 single base substitution G A intron_variant ESAD-UK 9 36469952 36469952 single base substitution A C intron_variant ESAD-UK 9 36472022 36472022 single base substitution T A intron_variant ESAD-UK 9 36474310 36474310 insertion of <=200bp - A intron_variant ESAD-UK 9 36476214 36476214 single base substitution C T intron_variant ESAD-UK 9 36479151 36479151 single base substitution G C intron_variant ESAD-UK 9 36481159 36481159 single base substitution G C intron_variant ESAD-UK 9 36483374 36483374 single base substitution A C intron_variant ESAD-UK 9 36485122 36485122 single base substitution C T intron_variant ESAD-UK 9 36485172 36485172 single base substitution C T intron_variant ESAD-UK 9 36486274 36486274 single base substitution C T intron_variant ESAD-UK 9 36490837 36490837 single base substitution G C upstream_gene_variant ESAD-UK 9 36491108 36491108 single base substitution G T upstream_gene_variant ESAD-UK 9 36491631 36491631 single base substitution G A upstream_gene_variant ESAD-UK 9 36491872 36491878 deletion of <=200bp TGCCAAG - upstream_gene_variant ESAD-UK 9 36491911 36491911 single base substitution G A upstream_gene_variant ESAD-UK 9 36492534 36492534 single base substitution G C upstream_gene_variant ESCA-CN 9 36338677 36338677 single base substitution G C 3_prime_UTR_variant ESCA-CN 9 36338677 36338677 single base substitution G C downstream_gene_variant ESCA-CN 9 36342665 36342665 single base substitution T C intron_variant ESCA-CN 9 36352747 36352747 single base substitution T C downstream_gene_variant ESCA-CN 9 36352747 36352747 single base substitution T C synonymous_variant P307P 921A>G ESCA-CN 9 36352747 36352747 single base substitution T C synonymous_variant P314P 942A>G ESCA-CN 9 36352747 36352747 single base substitution T C synonymous_variant P340P 1020A>G ESCA-CN 9 36352747 36352747 single base substitution T C synonymous_variant P390P 1170A>G ESCA-CN 9 36356430 36356430 single base substitution T C exon_variant ESCA-CN 9 36356430 36356430 single base substitution T C missense_variant Y177C 530A>G ESCA-CN 9 36356430 36356430 single base substitution T C missense_variant Y184C 551A>G ESCA-CN 9 36356430 36356430 single base substitution T C missense_variant Y210C 629A>G ESCA-CN 9 36356430 36356430 single base substitution T C missense_variant Y260C 779A>G KIRC-US 9 36376116 36376116 single base substitution A T 5_prime_UTR_variant KIRC-US 9 36376116 36376116 single base substitution A T exon_variant KIRC-US 9 36376116 36376116 single base substitution A T missense_variant D57E 171T>A KIRC-US 9 36376116 36376116 single base substitution A T missense_variant D7E 21T>A LAML-KR 9 36427687 36427687 single base substitution T C intron_variant LAML-KR 9 36436840 36436840 single base substitution T A intron_variant LAML-KR 9 36454598 36454598 single base substitution G T intron_variant LAML-KR 9 36473726 36473726 single base substitution A C intron_variant LAML-KR 9 36482325 36482325 single base substitution C T intron_variant LICA-FR 9 36349530 36349530 single base substitution C A intron_variant LICA-FR 9 36351198 36351198 single base substitution T A splice_acceptor_variant LICA-FR 9 36352771 36352771 single base substitution G C downstream_gene_variant LICA-FR 9 36352771 36352771 single base substitution G C synonymous_variant P299P 897C>G LICA-FR 9 36352771 36352771 single base substitution G C synonymous_variant P306P 918C>G LICA-FR 9 36352771 36352771 single base substitution G C synonymous_variant P332P 996C>G LICA-FR 9 36352771 36352771 single base substitution G C synonymous_variant P382P 1146C>G LICA-FR 9 36356380 36356380 single base substitution G A exon_variant LICA-FR 9 36356380 36356380 single base substitution G A missense_variant P194S 580C>T LICA-FR 9 36356380 36356380 single base substitution G A missense_variant P201S 601C>T LICA-FR 9 36356380 36356380 single base substitution G A missense_variant P227S 679C>T LICA-FR 9 36356380 36356380 single base substitution G A missense_variant P277S 829C>T LICA-FR 9 36367427 36367427 single base substitution T C downstream_gene_variant LICA-FR 9 36367427 36367427 single base substitution T C intron_variant LICA-FR 9 36433962 36433973 deletion of <=200bp GCGGTGGCTCAT - intron_variant LICA-FR 9 36447123 36447123 deletion of <=200bp A - intron_variant LICA-FR 9 36482084 36482084 single base substitution C G intron_variant LICA-FR 9 36491815 36491815 single base substitution T A upstream_gene_variant LINC-JP 9 36343805 36343805 single base substitution A G intron_variant LINC-JP 9 36352625 36352625 single base substitution A C downstream_gene_variant LINC-JP 9 36352625 36352625 single base substitution A C intron_variant LINC-JP 9 36353314 36353314 single base substitution T A downstream_gene_variant LINC-JP 9 36353314 36353314 single base substitution T A synonymous_variant I225I 675A>T LINC-JP 9 36353314 36353314 single base substitution T A synonymous_variant I232I 696A>T LINC-JP 9 36353314 36353314 single base substitution T A synonymous_variant I258I 774A>T LINC-JP 9 36353314 36353314 single base substitution T A synonymous_variant I308I 924A>T LINC-JP 9 36356504 36356504 single base substitution T C intron_variant LINC-JP 9 36369865 36369865 single base substitution C T exon_variant LINC-JP 9 36369865 36369865 single base substitution C T missense_variant D141N 421G>A LINC-JP 9 36369865 36369865 single base substitution C T missense_variant D58N 172G>A LINC-JP 9 36369865 36369865 single base substitution C T missense_variant D65N 193G>A LINC-JP 9 36369865 36369865 single base substitution C T missense_variant D91N 271G>A LINC-JP 9 36369940 36369940 single base substitution T C intron_variant LINC-JP 9 36378915 36378915 single base substitution G T intron_variant LINC-JP 9 36383378 36383378 single base substitution T C intron_variant LINC-JP 9 36397022 36397022 single base substitution G A intron_variant LINC-JP 9 36400264 36400264 single base substitution G A 5_prime_UTR_variant LINC-JP 9 36400264 36400264 single base substitution G A intron_variant LINC-JP 9 36400264 36400264 single base substitution G A upstream_gene_variant LINC-JP 9 36412031 36412031 single base substitution C G intron_variant LINC-JP 9 36431510 36431510 single base substitution T A intron_variant LINC-JP 9 36467372 36467372 single base substitution T C intron_variant LINC-JP 9 36483450 36483450 single base substitution T A intron_variant LIRI-JP 9 36336675 36336675 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 36336675 36336675 single base substitution T C downstream_gene_variant LIRI-JP 9 36336784 36336784 single base substitution C T 3_prime_UTR_variant LIRI-JP 9 36336784 36336784 single base substitution C T downstream_gene_variant LIRI-JP 9 36336951 36336951 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 36336951 36336951 single base substitution T C downstream_gene_variant LIRI-JP 9 36337417 36337417 single base substitution A T 3_prime_UTR_variant LIRI-JP 9 36337417 36337417 single base substitution A T downstream_gene_variant LIRI-JP 9 36339323 36339323 single base substitution C A 3_prime_UTR_variant LIRI-JP 9 36339323 36339323 single base substitution C A downstream_gene_variant LIRI-JP 9 36341937 36341937 single base substitution T A intron_variant LIRI-JP 9 36342839 36342839 single base substitution A T intron_variant LIRI-JP 9 36345194 36345194 single base substitution A C intron_variant LIRI-JP 9 36346576 36346576 single base substitution T A intron_variant LIRI-JP 9 36346665 36346665 single base substitution A T intron_variant LIRI-JP 9 36346726 36346731 deletion of <=200bp TGCTTC - intron_variant LIRI-JP 9 36346761 36346766 deletion of <=200bp ATCTAA - intron_variant LIRI-JP 9 36350669 36350669 deletion of <=200bp A - intron_variant LIRI-JP 9 36354094 36354094 single base substitution C T downstream_gene_variant LIRI-JP 9 36354094 36354094 single base substitution C T intron_variant LIRI-JP 9 36354399 36354399 single base substitution C T downstream_gene_variant LIRI-JP 9 36354399 36354399 single base substitution C T intron_variant LIRI-JP 9 36356491 36356491 single base substitution G A intron_variant LIRI-JP 9 36356567 36356567 deletion of <=200bp C - intron_variant LIRI-JP 9 36356880 36356880 single base substitution A G intron_variant LIRI-JP 9 36357318 36357318 single base substitution T C intron_variant LIRI-JP 9 36358333 36358333 single base substitution T C intron_variant LIRI-JP 9 36360233 36360233 single base substitution T C intron_variant LIRI-JP 9 36361132 36361132 single base substitution A C intron_variant LIRI-JP 9 36366799 36366799 single base substitution C T downstream_gene_variant LIRI-JP 9 36366799 36366799 single base substitution C T intron_variant LIRI-JP 9 36367382 36367382 single base substitution T C downstream_gene_variant LIRI-JP 9 36367382 36367382 single base substitution T C intron_variant LIRI-JP 9 36368253 36368253 single base substitution T C downstream_gene_variant LIRI-JP 9 36368253 36368253 single base substitution T C intron_variant LIRI-JP 9 36368463 36368463 single base substitution C A downstream_gene_variant LIRI-JP 9 36368463 36368463 single base substitution C A intron_variant LIRI-JP 9 36372461 36372461 single base substitution C T downstream_gene_variant LIRI-JP 9 36372461 36372461 single base substitution C T intron_variant LIRI-JP 9 36376109 36376109 single base substitution T C 5_prime_UTR_variant LIRI-JP 9 36376109 36376109 single base substitution T C exon_variant LIRI-JP 9 36376109 36376109 single base substitution T C missense_variant S10G 28A>G LIRI-JP 9 36376109 36376109 single base substitution T C missense_variant S60G 178A>G LIRI-JP 9 36378330 36378330 single base substitution T C intron_variant LIRI-JP 9 36382356 36382356 single base substitution T C intron_variant LIRI-JP 9 36383343 36383343 single base substitution C G intron_variant LIRI-JP 9 36384290 36384290 single base substitution A G intron_variant LIRI-JP 9 36385994 36385994 single base substitution A C intron_variant LIRI-JP 9 36386727 36386727 single base substitution C G intron_variant LIRI-JP 9 36386762 36386762 single base substitution T C intron_variant LIRI-JP 9 36387360 36387360 single base substitution T A intron_variant LIRI-JP 9 36388128 36388128 single base substitution A T intron_variant LIRI-JP 9 36390510 36390510 single base substitution T G 5_prime_UTR_variant LIRI-JP 9 36390510 36390510 single base substitution T G exon_variant LIRI-JP 9 36390510 36390510 single base substitution T G intron_variant LIRI-JP 9 36390510 36390510 single base substitution T G missense_variant Q39P 116A>C LIRI-JP 9 36391088 36391088 single base substitution T G intron_variant LIRI-JP 9 36391965 36391965 single base substitution G A intron_variant LIRI-JP 9 36391966 36391966 single base substitution C A intron_variant LIRI-JP 9 36396156 36396156 single base substitution T G intron_variant LIRI-JP 9 36399073 36399073 single base substitution T C intron_variant LIRI-JP 9 36399579 36399579 single base substitution T C intron_variant LIRI-JP 9 36402836 36402836 single base substitution A G intron_variant LIRI-JP 9 36402836 36402836 single base substitution A G upstream_gene_variant LIRI-JP 9 36404102 36404102 single base substitution A G intron_variant LIRI-JP 9 36404102 36404102 single base substitution A G upstream_gene_variant LIRI-JP 9 36404667 36404667 single base substitution C T intron_variant LIRI-JP 9 36404667 36404667 single base substitution C T upstream_gene_variant LIRI-JP 9 36405814 36405814 single base substitution T A intron_variant LIRI-JP 9 36405814 36405814 single base substitution T A upstream_gene_variant LIRI-JP 9 36407080 36407080 single base substitution G A intron_variant LIRI-JP 9 36407090 36407090 single base substitution C T intron_variant LIRI-JP 9 36410799 36410799 single base substitution C T intron_variant LIRI-JP 9 36412156 36412156 single base substitution C A intron_variant LIRI-JP 9 36413879 36413879 single base substitution A G intron_variant LIRI-JP 9 36419786 36419786 single base substitution C G intron_variant LIRI-JP 9 36426200 36426200 single base substitution C T intron_variant LIRI-JP 9 36431025 36431025 single base substitution A C intron_variant LIRI-JP 9 36433192 36433192 single base substitution A G intron_variant LIRI-JP 9 36433304 36433304 single base substitution C A intron_variant LIRI-JP 9 36435346 36435346 single base substitution G A intron_variant LIRI-JP 9 36435460 36435460 single base substitution C T intron_variant LIRI-JP 9 36436142 36436142 single base substitution T C intron_variant LIRI-JP 9 36439564 36439564 single base substitution G A intron_variant LIRI-JP 9 36441207 36441207 single base substitution T C intron_variant LIRI-JP 9 36442919 36442919 single base substitution G C intron_variant LIRI-JP 9 36443329 36443329 single base substitution G C intron_variant LIRI-JP 9 36443593 36443593 single base substitution A T intron_variant LIRI-JP 9 36443700 36443700 single base substitution G C intron_variant LIRI-JP 9 36443824 36443824 single base substitution G A intron_variant LIRI-JP 9 36444180 36444180 single base substitution G T intron_variant LIRI-JP 9 36444335 36444335 single base substitution G C intron_variant LIRI-JP 9 36444595 36444595 single base substitution G A intron_variant LIRI-JP 9 36444748 36444748 single base substitution G C intron_variant LIRI-JP 9 36445030 36445030 single base substitution G C intron_variant LIRI-JP 9 36445515 36445515 single base substitution T C intron_variant LIRI-JP 9 36446421 36446421 single base substitution T G intron_variant LIRI-JP 9 36446778 36446778 single base substitution C T intron_variant LIRI-JP 9 36448710 36448710 single base substitution G C intron_variant LIRI-JP 9 36449814 36449814 single base substitution G T intron_variant LIRI-JP 9 36452171 36452171 single base substitution C A intron_variant LIRI-JP 9 36452679 36452679 single base substitution G A intron_variant LIRI-JP 9 36453856 36453856 single base substitution T C intron_variant LIRI-JP 9 36454234 36454234 single base substitution C A intron_variant LIRI-JP 9 36457642 36457642 single base substitution C T intron_variant LIRI-JP 9 36457879 36457879 single base substitution C T intron_variant LIRI-JP 9 36458973 36458973 single base substitution A C intron_variant LIRI-JP 9 36460090 36460090 single base substitution T C intron_variant LIRI-JP 9 36461274 36461274 single base substitution G C intron_variant LIRI-JP 9 36462174 36462174 single base substitution G A intron_variant LIRI-JP 9 36463192 36463192 single base substitution A T intron_variant LIRI-JP 9 36463887 36463887 single base substitution A T intron_variant LIRI-JP 9 36465063 36465063 single base substitution C A intron_variant LIRI-JP 9 36466988 36466988 single base substitution C T intron_variant LIRI-JP 9 36469058 36469058 single base substitution G A intron_variant LIRI-JP 9 36471037 36471037 single base substitution A T intron_variant LIRI-JP 9 36471351 36471351 single base substitution T G intron_variant LIRI-JP 9 36473444 36473444 single base substitution G A intron_variant LIRI-JP 9 36483173 36483173 single base substitution A G intron_variant LIRI-JP 9 36485977 36485977 single base substitution C T intron_variant LIRI-JP 9 36489762 36489762 single base substitution T C upstream_gene_variant LIRI-JP 9 36489868 36489868 single base substitution G C upstream_gene_variant LIRI-JP 9 36490585 36490585 single base substitution T G upstream_gene_variant LIRI-JP 9 36490610 36490610 single base substitution T G upstream_gene_variant LIRI-JP 9 36491245 36491245 single base substitution T C upstream_gene_variant LIRI-JP 9 36491283 36491283 single base substitution T C upstream_gene_variant LIRI-JP 9 36492385 36492385 single base substitution G T upstream_gene_variant LIRI-JP 9 36492478 36492478 single base substitution T C upstream_gene_variant LUSC-KR 9 36339120 36339120 single base substitution C T 3_prime_UTR_variant LUSC-KR 9 36339120 36339120 single base substitution C T downstream_gene_variant LUSC-KR 9 36342459 36342459 single base substitution G A intron_variant LUSC-KR 9 36347187 36347187 single base substitution T G intron_variant LUSC-KR 9 36351226 36351226 single base substitution A G intron_variant LUSC-KR 9 36352938 36352938 single base substitution T C downstream_gene_variant LUSC-KR 9 36352938 36352938 single base substitution T C intron_variant LUSC-KR 9 36353775 36353775 single base substitution G T downstream_gene_variant LUSC-KR 9 36353775 36353775 single base substitution G T intron_variant LUSC-KR 9 36361596 36361596 single base substitution A C intron_variant LUSC-KR 9 36371985 36371985 single base substitution T C downstream_gene_variant LUSC-KR 9 36371985 36371985 single base substitution T C intron_variant LUSC-KR 9 36379042 36379042 single base substitution C A intron_variant LUSC-KR 9 36385754 36385754 single base substitution T A intron_variant LUSC-KR 9 36391630 36391630 single base substitution G T intron_variant LUSC-KR 9 36401223 36401223 single base substitution C A intron_variant LUSC-KR 9 36401223 36401223 single base substitution C A upstream_gene_variant LUSC-KR 9 36405016 36405016 single base substitution C A intron_variant LUSC-KR 9 36405016 36405016 single base substitution C A upstream_gene_variant LUSC-KR 9 36410330 36410330 single base substitution A G intron_variant LUSC-KR 9 36425920 36425920 single base substitution C G intron_variant LUSC-KR 9 36427687 36427687 single base substitution T C intron_variant LUSC-KR 9 36427703 36427703 single base substitution C T intron_variant LUSC-KR 9 36428379 36428379 single base substitution C G intron_variant LUSC-KR 9 36439654 36439654 single base substitution T A intron_variant LUSC-KR 9 36443766 36443766 single base substitution G A intron_variant LUSC-KR 9 36452863 36452863 single base substitution T C intron_variant LUSC-KR 9 36454279 36454279 single base substitution C A intron_variant LUSC-KR 9 36455635 36455635 single base substitution C A intron_variant LUSC-KR 9 36458734 36458734 single base substitution C T intron_variant LUSC-KR 9 36458948 36458948 single base substitution T C intron_variant LUSC-KR 9 36461354 36461354 single base substitution G T intron_variant LUSC-KR 9 36465385 36465385 single base substitution C A intron_variant LUSC-KR 9 36469232 36469232 single base substitution G T intron_variant LUSC-KR 9 36469551 36469551 single base substitution G A intron_variant LUSC-KR 9 36478102 36478102 single base substitution C G intron_variant LUSC-KR 9 36484645 36484645 single base substitution C T intron_variant LUSC-KR 9 36491055 36491055 single base substitution G T upstream_gene_variant MALY-DE 9 36338005 36338005 single base substitution C T 3_prime_UTR_variant MALY-DE 9 36338005 36338005 single base substitution C T downstream_gene_variant MALY-DE 9 36342944 36342944 single base substitution C T intron_variant MALY-DE 9 36346813 36346813 single base substitution G T intron_variant MALY-DE 9 36380416 36380416 single base substitution C T intron_variant MALY-DE 9 36385534 36385534 single base substitution T G intron_variant MALY-DE 9 36392409 36392409 single base substitution C A intron_variant MALY-DE 9 36398464 36398464 single base substitution T G intron_variant MALY-DE 9 36400551 36400551 single base substitution C T intron_variant MALY-DE 9 36400551 36400551 single base substitution C T splice_region_variant MALY-DE 9 36400551 36400551 single base substitution C T upstream_gene_variant MALY-DE 9 36402378 36402378 single base substitution A G intron_variant MALY-DE 9 36402378 36402378 single base substitution A G upstream_gene_variant MALY-DE 9 36404535 36404535 single base substitution A C intron_variant MALY-DE 9 36404535 36404535 single base substitution A C upstream_gene_variant MALY-DE 9 36406259 36406259 single base substitution G A intron_variant MALY-DE 9 36408906 36408906 single base substitution G A intron_variant MALY-DE 9 36415329 36415329 single base substitution T C intron_variant MALY-DE 9 36427263 36427263 single base substitution A G intron_variant MALY-DE 9 36427687 36427687 single base substitution T C intron_variant MALY-DE 9 36427691 36427691 single base substitution T C intron_variant MALY-DE 9 36427945 36427945 single base substitution G A intron_variant MALY-DE 9 36428452 36428453 deletion of <=200bp AT - intron_variant MALY-DE 9 36431603 36431603 single base substitution T C intron_variant MALY-DE 9 36436291 36436291 single base substitution T A intron_variant MALY-DE 9 36444704 36444704 single base substitution G A intron_variant MALY-DE 9 36445340 36445340 single base substitution C T intron_variant MALY-DE 9 36447819 36447819 single base substitution G A intron_variant MALY-DE 9 36462320 36462320 single base substitution C G intron_variant MALY-DE 9 36464861 36464861 insertion of <=200bp - A intron_variant MALY-DE 9 36470185 36470185 single base substitution C T intron_variant MALY-DE 9 36471010 36471010 single base substitution A T intron_variant MALY-DE 9 36472869 36472894 deletion of <=200bp GAGGTGGGTGGATCACCTGAGGTCAG - intron_variant MALY-DE 9 36473114 36473114 single base substitution C T intron_variant MALY-DE 9 36479143 36479143 single base substitution C T intron_variant MALY-DE 9 36479967 36479967 single base substitution T C intron_variant MALY-DE 9 36488666 36488666 single base substitution C T upstream_gene_variant MELA-AU 9 36331726 36331726 single base substitution G A downstream_gene_variant MELA-AU 9 36332400 36332400 single base substitution T A downstream_gene_variant MELA-AU 9 36332639 36332639 single base substitution C G downstream_gene_variant MELA-AU 9 36332968 36332969 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 36333178 36333178 single base substitution G A downstream_gene_variant MELA-AU 9 36334398 36334398 single base substitution C T downstream_gene_variant MELA-AU 9 36334440 36334440 single base substitution G A downstream_gene_variant MELA-AU 9 36334660 36334660 single base substitution G A downstream_gene_variant MELA-AU 9 36334664 36334664 single base substitution G A downstream_gene_variant MELA-AU 9 36334671 36334671 single base substitution G A downstream_gene_variant MELA-AU 9 36335102 36335102 single base substitution G A downstream_gene_variant MELA-AU 9 36335341 36335341 single base substitution G A downstream_gene_variant MELA-AU 9 36335953 36335953 single base substitution G A downstream_gene_variant MELA-AU 9 36336692 36336692 single base substitution G A 3_prime_UTR_variant MELA-AU 9 36336692 36336692 single base substitution G A downstream_gene_variant MELA-AU 9 36338402 36338402 single base substitution G A 3_prime_UTR_variant MELA-AU 9 36338402 36338402 single base substitution G A downstream_gene_variant MELA-AU 9 36339071 36339071 single base substitution G A 3_prime_UTR_variant MELA-AU 9 36339071 36339071 single base substitution G A downstream_gene_variant MELA-AU 9 36339878 36339878 single base substitution G A intron_variant MELA-AU 9 36340080 36340080 single base substitution G A intron_variant MELA-AU 9 36340217 36340217 single base substitution C T intron_variant MELA-AU 9 36340638 36340638 single base substitution G A intron_variant MELA-AU 9 36340649 36340649 single base substitution C G intron_variant MELA-AU 9 36340686 36340686 single base substitution G A intron_variant MELA-AU 9 36340824 36340824 single base substitution G A intron_variant MELA-AU 9 36340861 36340861 single base substitution A C intron_variant MELA-AU 9 36341047 36341047 single base substitution A T intron_variant MELA-AU 9 36341254 36341254 single base substitution G A intron_variant MELA-AU 9 36341539 36341539 single base substitution G A intron_variant MELA-AU 9 36341946 36341946 single base substitution G A intron_variant MELA-AU 9 36342061 36342062 deletion of <=200bp TT - intron_variant MELA-AU 9 36344415 36344415 single base substitution A T intron_variant MELA-AU 9 36344521 36344522 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 36345027 36345027 single base substitution G A intron_variant MELA-AU 9 36346504 36346504 single base substitution G A intron_variant MELA-AU 9 36346544 36346544 single base substitution A G intron_variant MELA-AU 9 36347021 36347021 single base substitution G A intron_variant MELA-AU 9 36348362 36348362 single base substitution T C intron_variant MELA-AU 9 36349633 36349633 single base substitution A T intron_variant MELA-AU 9 36349709 36349709 single base substitution G A intron_variant MELA-AU 9 36349975 36349975 single base substitution C T intron_variant MELA-AU 9 36350085 36350085 single base substitution G A intron_variant MELA-AU 9 36350143 36350143 insertion of <=200bp - CTT intron_variant MELA-AU 9 36352081 36352081 single base substitution G A downstream_gene_variant MELA-AU 9 36352081 36352081 single base substitution G A intron_variant MELA-AU 9 36352176 36352176 single base substitution A G downstream_gene_variant MELA-AU 9 36352176 36352176 single base substitution A G intron_variant MELA-AU 9 36352223 36352223 single base substitution G A downstream_gene_variant MELA-AU 9 36352223 36352223 single base substitution G A intron_variant MELA-AU 9 36352336 36352336 single base substitution G A downstream_gene_variant MELA-AU 9 36352336 36352336 single base substitution G A intron_variant MELA-AU 9 36352549 36352549 single base substitution C T downstream_gene_variant MELA-AU 9 36352549 36352549 single base substitution C T intron_variant MELA-AU 9 36353339 36353339 single base substitution G A downstream_gene_variant MELA-AU 9 36353339 36353339 single base substitution G A intron_variant MELA-AU 9 36353450 36353450 single base substitution C T downstream_gene_variant MELA-AU 9 36353450 36353450 single base substitution C T intron_variant MELA-AU 9 36356531 36356531 single base substitution G A intron_variant MELA-AU 9 36357299 36357299 single base substitution G A intron_variant MELA-AU 9 36357796 36357796 single base substitution G A exon_variant MELA-AU 9 36357796 36357796 single base substitution G A synonymous_variant L155L 465C>T MELA-AU 9 36357796 36357796 single base substitution G A synonymous_variant L162L 486C>T MELA-AU 9 36357796 36357796 single base substitution G A synonymous_variant L188L 564C>T MELA-AU 9 36357796 36357796 single base substitution G A synonymous_variant L238L 714C>T MELA-AU 9 36360375 36360375 single base substitution G A intron_variant MELA-AU 9 36360449 36360449 single base substitution G A intron_variant MELA-AU 9 36361382 36361382 single base substitution G A intron_variant MELA-AU 9 36367689 36367689 single base substitution G A downstream_gene_variant MELA-AU 9 36367689 36367689 single base substitution G A intron_variant MELA-AU 9 36368121 36368121 single base substitution G A downstream_gene_variant MELA-AU 9 36368121 36368121 single base substitution G A intron_variant MELA-AU 9 36368746 36368746 single base substitution C G downstream_gene_variant MELA-AU 9 36368746 36368746 single base substitution C G intron_variant MELA-AU 9 36368985 36368985 single base substitution C T downstream_gene_variant MELA-AU 9 36368985 36368985 single base substitution C T intron_variant MELA-AU 9 36369081 36369081 single base substitution T G downstream_gene_variant MELA-AU 9 36369081 36369081 single base substitution T G intron_variant MELA-AU 9 36369548 36369548 single base substitution G A downstream_gene_variant MELA-AU 9 36369548 36369548 single base substitution G A intron_variant MELA-AU 9 36370425 36370425 single base substitution G A intron_variant MELA-AU 9 36371578 36371578 single base substitution G A downstream_gene_variant MELA-AU 9 36371578 36371578 single base substitution G A intron_variant MELA-AU 9 36371710 36371710 single base substitution G A downstream_gene_variant MELA-AU 9 36371710 36371710 single base substitution G A intron_variant MELA-AU 9 36372850 36372850 single base substitution G A downstream_gene_variant MELA-AU 9 36372850 36372850 single base substitution G A intron_variant MELA-AU 9 36373022 36373022 single base substitution G A downstream_gene_variant MELA-AU 9 36373022 36373022 single base substitution G A intron_variant MELA-AU 9 36373534 36373534 single base substitution G A downstream_gene_variant MELA-AU 9 36373534 36373534 single base substitution G A intron_variant MELA-AU 9 36374521 36374521 single base substitution G A downstream_gene_variant MELA-AU 9 36374521 36374521 single base substitution G A intron_variant MELA-AU 9 36374621 36374622 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 36374621 36374622 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 36374698 36374698 single base substitution G A downstream_gene_variant MELA-AU 9 36374698 36374698 single base substitution G A intron_variant MELA-AU 9 36374771 36374771 single base substitution G A downstream_gene_variant MELA-AU 9 36374771 36374771 single base substitution G A intron_variant MELA-AU 9 36376201 36376201 single base substitution G A intron_variant MELA-AU 9 36376953 36376953 single base substitution G A intron_variant MELA-AU 9 36378609 36378609 single base substitution C G intron_variant MELA-AU 9 36379103 36379103 single base substitution G A intron_variant MELA-AU 9 36379202 36379202 single base substitution G A intron_variant MELA-AU 9 36379324 36379324 single base substitution G A intron_variant MELA-AU 9 36379364 36379364 single base substitution G A intron_variant MELA-AU 9 36379739 36379739 single base substitution G A intron_variant MELA-AU 9 36382412 36382412 deletion of <=200bp C - intron_variant MELA-AU 9 36382539 36382539 single base substitution G A intron_variant MELA-AU 9 36383099 36383099 single base substitution G A intron_variant MELA-AU 9 36383270 36383270 single base substitution C T intron_variant MELA-AU 9 36386785 36386785 single base substitution G A intron_variant MELA-AU 9 36388340 36388340 single base substitution G A intron_variant MELA-AU 9 36388855 36388855 single base substitution A T intron_variant MELA-AU 9 36389176 36389176 single base substitution A G intron_variant MELA-AU 9 36390975 36390975 single base substitution G A intron_variant MELA-AU 9 36391054 36391054 single base substitution G A intron_variant MELA-AU 9 36391276 36391276 single base substitution G A intron_variant MELA-AU 9 36392396 36392396 single base substitution G A intron_variant MELA-AU 9 36393032 36393032 single base substitution G A intron_variant MELA-AU 9 36393568 36393568 single base substitution C T intron_variant MELA-AU 9 36393832 36393832 single base substitution G A intron_variant MELA-AU 9 36393965 36393965 single base substitution G A intron_variant MELA-AU 9 36396954 36396954 single base substitution G A intron_variant MELA-AU 9 36397080 36397080 single base substitution A G intron_variant MELA-AU 9 36399489 36399490 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 9 36400241 36400241 single base substitution C T 5_prime_UTR_variant MELA-AU 9 36400241 36400241 single base substitution C T intron_variant MELA-AU 9 36400241 36400241 single base substitution C T upstream_gene_variant MELA-AU 9 36401989 36401989 single base substitution G A intron_variant MELA-AU 9 36401989 36401989 single base substitution G A upstream_gene_variant MELA-AU 9 36402454 36402454 single base substitution G A intron_variant MELA-AU 9 36402454 36402454 single base substitution G A upstream_gene_variant MELA-AU 9 36403066 36403066 single base substitution G A intron_variant MELA-AU 9 36403066 36403066 single base substitution G A upstream_gene_variant MELA-AU 9 36403848 36403848 single base substitution G A intron_variant MELA-AU 9 36403848 36403848 single base substitution G A upstream_gene_variant MELA-AU 9 36404412 36404412 single base substitution G A intron_variant MELA-AU 9 36404412 36404412 single base substitution G A upstream_gene_variant MELA-AU 9 36404461 36404461 single base substitution G A intron_variant MELA-AU 9 36404461 36404461 single base substitution G A upstream_gene_variant MELA-AU 9 36404703 36404703 single base substitution G A intron_variant MELA-AU 9 36404703 36404703 single base substitution G A upstream_gene_variant MELA-AU 9 36405265 36405265 single base substitution T A intron_variant MELA-AU 9 36405265 36405265 single base substitution T A upstream_gene_variant MELA-AU 9 36407045 36407045 single base substitution G A intron_variant MELA-AU 9 36407363 36407363 single base substitution G A intron_variant MELA-AU 9 36408692 36408692 single base substitution G A intron_variant MELA-AU 9 36408795 36408795 single base substitution G A intron_variant MELA-AU 9 36408811 36408811 single base substitution G A intron_variant MELA-AU 9 36409189 36409189 single base substitution G A intron_variant MELA-AU 9 36409206 36409206 single base substitution G A intron_variant MELA-AU 9 36409828 36409828 single base substitution G A intron_variant MELA-AU 9 36409933 36409933 single base substitution C G intron_variant MELA-AU 9 36410109 36410109 single base substitution T A intron_variant MELA-AU 9 36410686 36410686 single base substitution C T intron_variant MELA-AU 9 36410792 36410792 single base substitution G A intron_variant MELA-AU 9 36411736 36411736 single base substitution T A intron_variant MELA-AU 9 36412160 36412160 single base substitution A G intron_variant MELA-AU 9 36412332 36412332 single base substitution G A intron_variant MELA-AU 9 36413578 36413580 deletion of <=200bp AAT - intron_variant MELA-AU 9 36414848 36414848 single base substitution T C intron_variant MELA-AU 9 36416694 36416694 single base substitution G A intron_variant MELA-AU 9 36417670 36417670 single base substitution G A intron_variant MELA-AU 9 36418132 36418132 single base substitution C T intron_variant MELA-AU 9 36419156 36419157 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 36419955 36419955 single base substitution G A intron_variant MELA-AU 9 36420998 36420998 single base substitution G A intron_variant MELA-AU 9 36422372 36422372 single base substitution C T intron_variant MELA-AU 9 36422691 36422691 single base substitution G A intron_variant MELA-AU 9 36422703 36422703 single base substitution G A intron_variant MELA-AU 9 36422897 36422897 single base substitution G A intron_variant MELA-AU 9 36423354 36423354 single base substitution C T intron_variant MELA-AU 9 36423481 36423481 single base substitution G A intron_variant MELA-AU 9 36423591 36423591 single base substitution A T intron_variant MELA-AU 9 36424422 36424422 single base substitution G A intron_variant MELA-AU 9 36425599 36425599 single base substitution G A intron_variant MELA-AU 9 36426657 36426657 single base substitution A G intron_variant MELA-AU 9 36427541 36427541 single base substitution G A intron_variant MELA-AU 9 36428642 36428642 single base substitution T C intron_variant MELA-AU 9 36429224 36429224 single base substitution G A intron_variant MELA-AU 9 36429824 36429824 single base substitution C T intron_variant MELA-AU 9 36430291 36430291 single base substitution C T intron_variant MELA-AU 9 36431414 36431414 single base substitution G A intron_variant MELA-AU 9 36431448 36431448 single base substitution G A intron_variant MELA-AU 9 36431904 36431904 single base substitution G T intron_variant MELA-AU 9 36431993 36431993 single base substitution C T intron_variant MELA-AU 9 36432048 36432049 multiple base substitution (>=2bp and <=200bp) GT TG intron_variant MELA-AU 9 36433160 36433160 single base substitution G A intron_variant MELA-AU 9 36433698 36433698 single base substitution A C intron_variant MELA-AU 9 36434646 36434646 single base substitution A G intron_variant MELA-AU 9 36434835 36434835 single base substitution C T intron_variant MELA-AU 9 36435697 36435697 single base substitution G A intron_variant MELA-AU 9 36435800 36435800 single base substitution G C intron_variant MELA-AU 9 36436490 36436490 single base substitution G A intron_variant MELA-AU 9 36436714 36436714 single base substitution G A intron_variant MELA-AU 9 36436725 36436725 single base substitution G A intron_variant MELA-AU 9 36436952 36436952 single base substitution G A intron_variant MELA-AU 9 36437738 36437738 single base substitution G A intron_variant MELA-AU 9 36438074 36438074 single base substitution G A intron_variant MELA-AU 9 36439393 36439393 single base substitution T A intron_variant MELA-AU 9 36439810 36439810 single base substitution T G intron_variant MELA-AU 9 36440137 36440137 single base substitution G A intron_variant MELA-AU 9 36440421 36440421 single base substitution G A intron_variant MELA-AU 9 36440422 36440422 single base substitution G C intron_variant MELA-AU 9 36440706 36440706 single base substitution G C intron_variant MELA-AU 9 36442537 36442537 single base substitution G A intron_variant MELA-AU 9 36443662 36443662 single base substitution A T intron_variant MELA-AU 9 36443721 36443721 single base substitution G A intron_variant MELA-AU 9 36443824 36443824 single base substitution G A intron_variant MELA-AU 9 36444332 36444332 single base substitution G A intron_variant MELA-AU 9 36444368 36444368 single base substitution G A intron_variant MELA-AU 9 36444561 36444561 single base substitution T C intron_variant MELA-AU 9 36444785 36444785 single base substitution G A intron_variant MELA-AU 9 36444806 36444806 single base substitution G A intron_variant MELA-AU 9 36445849 36445849 single base substitution G A intron_variant MELA-AU 9 36447113 36447113 single base substitution G A intron_variant MELA-AU 9 36449119 36449119 single base substitution A G intron_variant MELA-AU 9 36449527 36449527 single base substitution G A intron_variant MELA-AU 9 36450888 36450888 single base substitution C G intron_variant MELA-AU 9 36451229 36451229 single base substitution G A intron_variant MELA-AU 9 36451582 36451582 single base substitution C T intron_variant MELA-AU 9 36451982 36451982 single base substitution G A intron_variant MELA-AU 9 36452903 36452904 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 9 36454715 36454715 single base substitution G A intron_variant MELA-AU 9 36455367 36455367 single base substitution G A intron_variant MELA-AU 9 36455700 36455700 single base substitution G A intron_variant MELA-AU 9 36456517 36456518 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 36457204 36457204 single base substitution C T intron_variant MELA-AU 9 36458093 36458093 single base substitution C T intron_variant MELA-AU 9 36458208 36458208 single base substitution G A intron_variant MELA-AU 9 36458495 36458495 single base substitution C T intron_variant MELA-AU 9 36458768 36458768 single base substitution G A intron_variant MELA-AU 9 36459746 36459746 single base substitution G A intron_variant MELA-AU 9 36459851 36459851 single base substitution G A intron_variant MELA-AU 9 36460872 36460872 single base substitution G A intron_variant MELA-AU 9 36462200 36462200 single base substitution G A intron_variant MELA-AU 9 36462284 36462284 single base substitution C T intron_variant MELA-AU 9 36462765 36462765 single base substitution A C intron_variant MELA-AU 9 36462985 36462985 single base substitution T C intron_variant MELA-AU 9 36465090 36465090 single base substitution A G intron_variant MELA-AU 9 36465534 36465534 single base substitution G A intron_variant MELA-AU 9 36466374 36466374 single base substitution C G intron_variant MELA-AU 9 36467525 36467525 single base substitution G A intron_variant MELA-AU 9 36467812 36467812 single base substitution T C intron_variant MELA-AU 9 36469451 36469451 single base substitution G C intron_variant MELA-AU 9 36469476 36469476 single base substitution G A intron_variant MELA-AU 9 36471307 36471307 single base substitution G A intron_variant MELA-AU 9 36472058 36472058 single base substitution C T intron_variant MELA-AU 9 36473117 36473117 single base substitution G A intron_variant MELA-AU 9 36473557 36473557 single base substitution C G intron_variant MELA-AU 9 36473573 36473573 single base substitution G A intron_variant MELA-AU 9 36473593 36473593 single base substitution A C intron_variant MELA-AU 9 36475578 36475578 single base substitution A G intron_variant MELA-AU 9 36475989 36475989 single base substitution G A intron_variant MELA-AU 9 36476141 36476141 single base substitution A T intron_variant MELA-AU 9 36476918 36476918 single base substitution G A intron_variant MELA-AU 9 36478045 36478045 single base substitution T C intron_variant MELA-AU 9 36478304 36478304 single base substitution G A intron_variant MELA-AU 9 36479852 36479852 single base substitution T G intron_variant MELA-AU 9 36479956 36479956 single base substitution C G intron_variant MELA-AU 9 36480984 36480984 single base substitution A C intron_variant MELA-AU 9 36481653 36481653 single base substitution A T intron_variant MELA-AU 9 36481843 36481843 single base substitution C T intron_variant MELA-AU 9 36482100 36482100 single base substitution G C intron_variant MELA-AU 9 36482443 36482444 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 36482753 36482759 deletion of <=200bp ATGAAAA - intron_variant MELA-AU 9 36483367 36483367 single base substitution G A intron_variant MELA-AU 9 36483789 36483789 single base substitution T A intron_variant MELA-AU 9 36483942 36483942 single base substitution T C intron_variant MELA-AU 9 36484086 36484086 single base substitution G T intron_variant MELA-AU 9 36484332 36484332 single base substitution G A intron_variant MELA-AU 9 36484734 36484734 single base substitution C G intron_variant MELA-AU 9 36485899 36485899 single base substitution C T intron_variant MELA-AU 9 36487096 36487096 single base substitution G A intron_variant MELA-AU 9 36489221 36489221 single base substitution C A upstream_gene_variant MELA-AU 9 36489872 36489872 single base substitution G A upstream_gene_variant MELA-AU 9 36491026 36491026 single base substitution C T upstream_gene_variant MELA-AU 9 36491124 36491124 single base substitution G A upstream_gene_variant MELA-AU 9 36491186 36491186 single base substitution G A upstream_gene_variant MELA-AU 9 36491202 36491202 single base substitution A G upstream_gene_variant MELA-AU 9 36491237 36491237 single base substitution A C upstream_gene_variant MELA-AU 9 36491516 36491517 multiple base substitution (>=2bp and <=200bp) TG AT upstream_gene_variant MELA-AU 9 36491788 36491788 single base substitution C T upstream_gene_variant MELA-AU 9 36492061 36492061 single base substitution C T upstream_gene_variant MELA-AU 9 36492327 36492327 single base substitution C T upstream_gene_variant MELA-AU 9 36492458 36492458 single base substitution G A upstream_gene_variant ORCA-IN 9 36341616 36341616 single base substitution C A intron_variant ORCA-IN 9 36358507 36358507 single base substitution G C intron_variant ORCA-IN 9 36374970 36374970 single base substitution C G downstream_gene_variant ORCA-IN 9 36374970 36374970 single base substitution C G intron_variant ORCA-IN 9 36402033 36402033 single base substitution C T intron_variant ORCA-IN 9 36402033 36402033 single base substitution C T upstream_gene_variant ORCA-IN 9 36416612 36416612 single base substitution C T intron_variant ORCA-IN 9 36421393 36421393 single base substitution G T intron_variant ORCA-IN 9 36428471 36428471 single base substitution T C intron_variant ORCA-IN 9 36458890 36458890 single base substitution C G intron_variant ORCA-IN 9 36488877 36488877 single base substitution G C upstream_gene_variant OV-AU 9 36332817 36332817 single base substitution A G downstream_gene_variant OV-AU 9 36333164 36333164 single base substitution T A downstream_gene_variant OV-AU 9 36353794 36353794 single base substitution G A downstream_gene_variant OV-AU 9 36353794 36353794 single base substitution G A intron_variant OV-AU 9 36357097 36357097 single base substitution G C intron_variant OV-AU 9 36359077 36359077 single base substitution C G intron_variant OV-AU 9 36359993 36359993 single base substitution C T intron_variant OV-AU 9 36360886 36360886 single base substitution T G intron_variant OV-AU 9 36361996 36361996 single base substitution C G intron_variant OV-AU 9 36369359 36369359 single base substitution A G downstream_gene_variant OV-AU 9 36369359 36369359 single base substitution A G intron_variant OV-AU 9 36373777 36373777 single base substitution T C downstream_gene_variant OV-AU 9 36373777 36373777 single base substitution T C intron_variant OV-AU 9 36374979 36374979 single base substitution T C downstream_gene_variant OV-AU 9 36374979 36374979 single base substitution T C intron_variant OV-AU 9 36386433 36386433 single base substitution C G intron_variant OV-AU 9 36388111 36388111 single base substitution A G intron_variant OV-AU 9 36407228 36407228 single base substitution C T intron_variant OV-AU 9 36415475 36415475 single base substitution A G intron_variant OV-AU 9 36417098 36417098 single base substitution G C intron_variant OV-AU 9 36425714 36425714 single base substitution G T intron_variant OV-AU 9 36427444 36427444 single base substitution T G intron_variant OV-AU 9 36427600 36427600 single base substitution G T intron_variant OV-AU 9 36427694 36427694 single base substitution A G intron_variant OV-AU 9 36427698 36427698 single base substitution A G intron_variant OV-AU 9 36429621 36429621 single base substitution C T intron_variant OV-AU 9 36431155 36431155 single base substitution G A intron_variant OV-AU 9 36433232 36433232 single base substitution A G intron_variant OV-AU 9 36438999 36438999 single base substitution A T intron_variant OV-AU 9 36439476 36439476 single base substitution C A intron_variant OV-AU 9 36440754 36440754 single base substitution T C intron_variant OV-AU 9 36449347 36449347 single base substitution G C intron_variant OV-AU 9 36450638 36450638 single base substitution G A intron_variant OV-AU 9 36451860 36451860 single base substitution G A intron_variant OV-AU 9 36454444 36454444 single base substitution A G intron_variant OV-AU 9 36462701 36462701 single base substitution C G intron_variant OV-AU 9 36462702 36462702 single base substitution T G intron_variant OV-AU 9 36479873 36479873 single base substitution G A intron_variant OV-AU 9 36481362 36481362 single base substitution C T intron_variant OV-AU 9 36484015 36484015 single base substitution C T intron_variant OV-AU 9 36488034 36488034 single base substitution T C upstream_gene_variant PACA-AU 9 36345157 36345157 single base substitution T C intron_variant PACA-AU 9 36351678 36351678 single base substitution G A downstream_gene_variant PACA-AU 9 36351678 36351678 single base substitution G A intron_variant PACA-AU 9 36352601 36352601 single base substitution C T downstream_gene_variant PACA-AU 9 36352601 36352601 single base substitution C T intron_variant PACA-AU 9 36362575 36362575 insertion of <=200bp - TTGGTCAAAATGATCATTCCT intron_variant PACA-AU 9 36362993 36362993 single base substitution T A intron_variant PACA-AU 9 36384281 36384281 single base substitution C A intron_variant PACA-AU 9 36389523 36389523 single base substitution A C intron_variant PACA-AU 9 36389997 36389997 single base substitution A T intron_variant PACA-AU 9 36392416 36392416 single base substitution C A intron_variant PACA-AU 9 36397060 36397060 single base substitution G A intron_variant PACA-AU 9 36404321 36404321 single base substitution T A intron_variant PACA-AU 9 36404321 36404321 single base substitution T A upstream_gene_variant PACA-AU 9 36404810 36404810 single base substitution C A intron_variant PACA-AU 9 36404810 36404810 single base substitution C A upstream_gene_variant PACA-AU 9 36407012 36407012 single base substitution A C intron_variant PACA-AU 9 36407219 36407219 single base substitution A G intron_variant PACA-AU 9 36413151 36413151 deletion of <=200bp G - intron_variant PACA-AU 9 36413229 36413229 deletion of <=200bp T - intron_variant PACA-AU 9 36418325 36418325 single base substitution G A intron_variant PACA-AU 9 36418789 36418789 single base substitution C A intron_variant PACA-AU 9 36422227 36422227 single base substitution C G intron_variant PACA-AU 9 36426332 36426332 single base substitution C G intron_variant PACA-AU 9 36426369 36426369 single base substitution C T intron_variant PACA-AU 9 36437557 36437557 single base substitution A T intron_variant PACA-AU 9 36438424 36438424 single base substitution T A intron_variant PACA-AU 9 36447228 36447228 single base substitution G C intron_variant PACA-AU 9 36448201 36448201 single base substitution C T intron_variant PACA-AU 9 36451061 36451061 single base substitution A G intron_variant PACA-AU 9 36452617 36452617 single base substitution A C intron_variant PACA-AU 9 36454182 36454182 single base substitution G A intron_variant PACA-AU 9 36457508 36457508 deletion of <=200bp A - intron_variant PACA-AU 9 36466173 36466173 single base substitution C T intron_variant PACA-AU 9 36479097 36479097 single base substitution A G intron_variant PACA-AU 9 36479744 36479744 single base substitution A T intron_variant PACA-AU 9 36480551 36480551 single base substitution T C intron_variant PACA-AU 9 36480552 36480552 single base substitution T C intron_variant PACA-AU 9 36480985 36480985 single base substitution T C intron_variant PACA-AU 9 36482673 36482673 single base substitution T C intron_variant PACA-AU 9 36492542 36492542 single base substitution C T upstream_gene_variant PACA-CA 9 36333214 36333214 single base substitution A C downstream_gene_variant PACA-CA 9 36336962 36336962 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 9 36336962 36336962 deletion of <=200bp T - downstream_gene_variant PACA-CA 9 36340033 36340033 single base substitution A G intron_variant PACA-CA 9 36344609 36344609 single base substitution A T intron_variant PACA-CA 9 36345716 36345716 single base substitution A C intron_variant PACA-CA 9 36346025 36346025 single base substitution T C intron_variant PACA-CA 9 36348770 36348770 single base substitution G C intron_variant PACA-CA 9 36348999 36348999 single base substitution G T intron_variant PACA-CA 9 36349121 36349121 single base substitution G T intron_variant PACA-CA 9 36349202 36349202 single base substitution G C intron_variant PACA-CA 9 36349354 36349354 single base substitution G C intron_variant PACA-CA 9 36349673 36349673 single base substitution G A intron_variant PACA-CA 9 36349706 36349706 single base substitution G A intron_variant PACA-CA 9 36350134 36350134 single base substitution G C intron_variant PACA-CA 9 36350356 36350357 deletion of <=200bp AC - intron_variant PACA-CA 9 36350359 36350359 single base substitution G C intron_variant PACA-CA 9 36350821 36350821 single base substitution G C intron_variant PACA-CA 9 36351022 36351022 single base substitution G C intron_variant PACA-CA 9 36351157 36351157 single base substitution G A synonymous_variant F323F 969C>T PACA-CA 9 36351157 36351157 single base substitution G A synonymous_variant F330F 990C>T PACA-CA 9 36351157 36351157 single base substitution G A synonymous_variant F356F 1068C>T PACA-CA 9 36351157 36351157 single base substitution G A synonymous_variant F406F 1218C>T PACA-CA 9 36355678 36355678 single base substitution T C downstream_gene_variant PACA-CA 9 36355678 36355678 single base substitution T C intron_variant PACA-CA 9 36357699 36357699 single base substitution G A intron_variant PACA-CA 9 36358168 36358168 single base substitution G T intron_variant PACA-CA 9 36361070 36361070 single base substitution T G intron_variant PACA-CA 9 36367875 36367875 insertion of <=200bp - T downstream_gene_variant PACA-CA 9 36367875 36367875 insertion of <=200bp - T intron_variant PACA-CA 9 36372832 36372832 single base substitution C A downstream_gene_variant PACA-CA 9 36372832 36372832 single base substitution C A intron_variant PACA-CA 9 36374199 36374199 insertion of <=200bp - CTC downstream_gene_variant PACA-CA 9 36374199 36374199 insertion of <=200bp - CTC intron_variant PACA-CA 9 36374770 36374770 single base substitution C T downstream_gene_variant PACA-CA 9 36374770 36374770 single base substitution C T intron_variant PACA-CA 9 36376240 36376240 deletion of <=200bp A - intron_variant PACA-CA 9 36377912 36377912 single base substitution T C intron_variant PACA-CA 9 36385017 36385017 single base substitution T C intron_variant PACA-CA 9 36385140 36385140 deletion of <=200bp T - intron_variant PACA-CA 9 36385500 36385500 single base substitution C T intron_variant PACA-CA 9 36392766 36392766 deletion of <=200bp T - intron_variant PACA-CA 9 36392768 36392772 deletion of <=200bp AGTAT - intron_variant PACA-CA 9 36392843 36392843 single base substitution C G intron_variant PACA-CA 9 36394902 36394902 single base substitution G T intron_variant PACA-CA 9 36394903 36394903 single base substitution C G intron_variant PACA-CA 9 36398414 36398414 single base substitution T A intron_variant PACA-CA 9 36398925 36398925 single base substitution C A intron_variant PACA-CA 9 36399923 36399923 single base substitution A G intron_variant PACA-CA 9 36401195 36401195 insertion of <=200bp - GGGGC 5_prime_UTR_variant PACA-CA 9 36401195 36401195 insertion of <=200bp - GGGGC exon_variant PACA-CA 9 36401195 36401195 insertion of <=200bp - GGGGC intron_variant PACA-CA 9 36401195 36401195 insertion of <=200bp - GGGGC upstream_gene_variant PACA-CA 9 36401915 36401915 single base substitution C G intron_variant PACA-CA 9 36401915 36401915 single base substitution C G upstream_gene_variant PACA-CA 9 36409382 36409382 single base substitution C T intron_variant PACA-CA 9 36412840 36412840 single base substitution C T intron_variant PACA-CA 9 36412978 36412978 single base substitution A T intron_variant PACA-CA 9 36414891 36414891 single base substitution T C intron_variant PACA-CA 9 36415194 36415194 single base substitution G A intron_variant PACA-CA 9 36415573 36415573 single base substitution G A intron_variant PACA-CA 9 36415665 36415665 single base substitution G C intron_variant PACA-CA 9 36417762 36417762 single base substitution C T intron_variant PACA-CA 9 36417832 36417832 single base substitution C A intron_variant PACA-CA 9 36418516 36418516 single base substitution C A intron_variant PACA-CA 9 36420208 36420208 single base substitution C T intron_variant PACA-CA 9 36422294 36422294 single base substitution G A intron_variant PACA-CA 9 36422593 36422593 single base substitution T G intron_variant PACA-CA 9 36427287 36427287 single base substitution C G intron_variant PACA-CA 9 36429616 36429616 single base substitution C A intron_variant PACA-CA 9 36429801 36429801 single base substitution A T intron_variant PACA-CA 9 36433507 36433507 single base substitution C T intron_variant PACA-CA 9 36435936 36435936 single base substitution G A intron_variant PACA-CA 9 36436073 36436073 single base substitution T C intron_variant PACA-CA 9 36438131 36438131 single base substitution T C intron_variant PACA-CA 9 36438598 36438598 single base substitution G A intron_variant PACA-CA 9 36444416 36444429 deletion of <=200bp TGTAACAAACCTGC - intron_variant PACA-CA 9 36445195 36445195 single base substitution T C intron_variant PACA-CA 9 36449073 36449073 single base substitution C G intron_variant PACA-CA 9 36449548 36449548 single base substitution T C intron_variant PACA-CA 9 36452546 36452546 single base substitution C T intron_variant PACA-CA 9 36453699 36453699 single base substitution A T intron_variant PACA-CA 9 36459678 36459678 single base substitution A G intron_variant PACA-CA 9 36460701 36460701 single base substitution G A intron_variant PACA-CA 9 36462516 36462516 single base substitution G A intron_variant PACA-CA 9 36463929 36463929 single base substitution C A intron_variant PACA-CA 9 36471109 36471109 single base substitution C A intron_variant PACA-CA 9 36472315 36472315 single base substitution T A intron_variant PACA-CA 9 36475109 36475109 single base substitution C G intron_variant PACA-CA 9 36476018 36476018 single base substitution A G intron_variant PACA-CA 9 36478777 36478777 single base substitution G A intron_variant PACA-CA 9 36479809 36479809 single base substitution C T intron_variant PACA-CA 9 36482895 36482895 single base substitution G A intron_variant PACA-CA 9 36486910 36486910 single base substitution A C intron_variant PACA-CA 9 36490891 36490891 insertion of <=200bp - T upstream_gene_variant PACA-CA 9 36491622 36491622 single base substitution C T upstream_gene_variant PAEN-AU 9 36335813 36335813 single base substitution A G downstream_gene_variant PAEN-AU 9 36364194 36364194 single base substitution C T intron_variant PAEN-AU 9 36457038 36457038 single base substitution T A intron_variant PAEN-IT 9 36358149 36358149 single base substitution C T intron_variant PAEN-IT 9 36361535 36361535 single base substitution A G intron_variant PAEN-IT 9 36383823 36383823 single base substitution G T intron_variant PAEN-IT 9 36409262 36409262 single base substitution G A intron_variant PAEN-IT 9 36425007 36425007 single base substitution C A intron_variant PAEN-IT 9 36440926 36440926 single base substitution C T intron_variant PBCA-DE 9 36335354 36335354 single base substitution C T downstream_gene_variant PBCA-DE 9 36349089 36349089 single base substitution C T intron_variant PBCA-DE 9 36352307 36352307 insertion of <=200bp - A downstream_gene_variant PBCA-DE 9 36352307 36352307 insertion of <=200bp - A intron_variant PBCA-DE 9 36353360 36353361 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 9 36353360 36353361 deletion of <=200bp TA - intron_variant PBCA-DE 9 36393972 36393972 single base substitution C A intron_variant PBCA-DE 9 36394831 36394831 insertion of <=200bp - T intron_variant PBCA-DE 9 36401821 36401821 single base substitution T A intron_variant PBCA-DE 9 36401821 36401821 single base substitution T A upstream_gene_variant PBCA-DE 9 36402733 36402733 single base substitution C T intron_variant PBCA-DE 9 36402733 36402733 single base substitution C T upstream_gene_variant PBCA-DE 9 36427687 36427687 single base substitution T C intron_variant PBCA-DE 9 36427691 36427691 single base substitution T C intron_variant PBCA-DE 9 36428178 36428178 single base substitution C T intron_variant PBCA-DE 9 36428452 36428453 deletion of <=200bp AT - intron_variant PBCA-DE 9 36432797 36432797 insertion of <=200bp - A intron_variant PBCA-DE 9 36437131 36437131 single base substitution G T intron_variant PBCA-DE 9 36445383 36445383 single base substitution T G intron_variant PBCA-DE 9 36446808 36446819 deletion of <=200bp AAAAAAAAAAAA - intron_variant PBCA-DE 9 36466996 36466996 single base substitution C T intron_variant PBCA-DE 9 36470872 36470872 single base substitution T C intron_variant PBCA-DE 9 36473400 36473400 single base substitution C G intron_variant PBCA-DE 9 36483339 36483339 single base substitution C T intron_variant PBCA-DE 9 36485309 36485310 deletion of <=200bp AC - intron_variant PBCA-DE 9 36486052 36486052 single base substitution A G intron_variant PBCA-DE 9 36487152 36487152 single base substitution A T intron_variant PBCA-DE 9 36491642 36491642 single base substitution C T upstream_gene_variant PRAD-CA 9 36339551 36339551 single base substitution C T 3_prime_UTR_variant PRAD-CA 9 36339551 36339551 single base substitution C T downstream_gene_variant PRAD-CA 9 36383176 36383176 single base substitution A G intron_variant PRAD-CA 9 36391061 36391061 single base substitution G A intron_variant PRAD-CA 9 36427687 36427687 single base substitution T C intron_variant PRAD-CA 9 36443314 36443314 single base substitution A T intron_variant PRAD-CA 9 36444825 36444825 single base substitution A C intron_variant PRAD-CA 9 36464191 36464191 single base substitution C A intron_variant PRAD-CA 9 36470353 36470353 single base substitution A G intron_variant PRAD-CA 9 36478706 36478706 single base substitution C T intron_variant PRAD-CA 9 36483863 36483863 single base substitution T C intron_variant PRAD-CA 9 36489362 36489362 single base substitution A G upstream_gene_variant PRAD-CA 9 36489518 36489518 single base substitution T G upstream_gene_variant PRAD-UK 9 36332483 36332483 single base substitution C T downstream_gene_variant PRAD-UK 9 36336197 36336197 insertion of <=200bp - TATATATA downstream_gene_variant PRAD-UK 9 36338054 36338054 single base substitution G A 3_prime_UTR_variant PRAD-UK 9 36338054 36338054 single base substitution G A downstream_gene_variant PRAD-UK 9 36338723 36338723 single base substitution T C 3_prime_UTR_variant PRAD-UK 9 36338723 36338723 single base substitution T C downstream_gene_variant PRAD-UK 9 36344890 36344890 single base substitution C G missense_variant D359H 1075G>C PRAD-UK 9 36344890 36344890 single base substitution C G missense_variant D366H 1096G>C PRAD-UK 9 36344890 36344890 single base substitution C G missense_variant D392H 1174G>C PRAD-UK 9 36344890 36344890 single base substitution C G missense_variant D442H 1324G>C PRAD-UK 9 36346762 36346762 single base substitution T C intron_variant PRAD-UK 9 36357798 36357798 deletion of <=200bp G - exon_variant PRAD-UK 9 36357798 36357798 deletion of <=200bp G - frameshift_variant L155 PRAD-UK 9 36357798 36357798 deletion of <=200bp G - frameshift_variant L162 PRAD-UK 9 36357798 36357798 deletion of <=200bp G - frameshift_variant L188 PRAD-UK 9 36357798 36357798 deletion of <=200bp G - frameshift_variant L238 PRAD-UK 9 36369175 36369175 single base substitution C A downstream_gene_variant PRAD-UK 9 36369175 36369175 single base substitution C A intron_variant PRAD-UK 9 36370465 36370465 single base substitution T C intron_variant PRAD-UK 9 36394434 36394434 single base substitution A C intron_variant PRAD-UK 9 36396360 36396360 single base substitution G A intron_variant PRAD-UK 9 36404808 36404808 single base substitution T C intron_variant PRAD-UK 9 36404808 36404808 single base substitution T C upstream_gene_variant PRAD-UK 9 36426836 36426836 single base substitution G C intron_variant PRAD-UK 9 36443387 36443387 single base substitution C T intron_variant PRAD-UK 9 36457849 36457849 single base substitution A C intron_variant PRAD-UK 9 36473012 36473012 single base substitution C T intron_variant PRAD-UK 9 36483229 36483229 single base substitution G C intron_variant RECA-EU 9 36337849 36337849 single base substitution G A 3_prime_UTR_variant RECA-EU 9 36337849 36337849 single base substitution G A downstream_gene_variant RECA-EU 9 36345557 36345557 single base substitution C A intron_variant RECA-EU 9 36345673 36345673 single base substitution C A intron_variant RECA-EU 9 36356298 36356298 single base substitution A T downstream_gene_variant RECA-EU 9 36356298 36356298 single base substitution A T splice_donor_variant RECA-EU 9 36361997 36361997 single base substitution A C intron_variant RECA-EU 9 36404724 36404724 single base substitution C T intron_variant RECA-EU 9 36404724 36404724 single base substitution C T upstream_gene_variant RECA-EU 9 36407186 36407186 single base substitution A G intron_variant RECA-EU 9 36409699 36409699 single base substitution G T intron_variant RECA-EU 9 36418776 36418776 single base substitution C G intron_variant RECA-EU 9 36431200 36431200 single base substitution G A intron_variant RECA-EU 9 36432393 36432393 single base substitution G A intron_variant RECA-EU 9 36432394 36432394 single base substitution T C intron_variant RECA-EU 9 36484600 36484600 single base substitution A T intron_variant RECA-EU 9 36492114 36492114 single base substitution C T upstream_gene_variant SKCA-BR 9 36333819 36333819 single base substitution G A downstream_gene_variant SKCA-BR 9 36334489 36334489 single base substitution T C downstream_gene_variant SKCA-BR 9 36335946 36335946 single base substitution G T downstream_gene_variant SKCA-BR 9 36336174 36336176 deletion of <=200bp AAT - downstream_gene_variant SKCA-BR 9 36341804 36341864 deletion of <=200bp TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAA - intron_variant SKCA-BR 9 36341806 36341864 deletion of <=200bp TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAA - intron_variant SKCA-BR 9 36341854 36341864 deletion of <=200bp TATATATATAA - intron_variant SKCA-BR 9 36347117 36347134 deletion of <=200bp CGGGGGGGGGGGGGGGGG - intron_variant SKCA-BR 9 36347754 36347754 single base substitution G A intron_variant SKCA-BR 9 36351302 36351302 single base substitution G T intron_variant SKCA-BR 9 36351303 36351303 single base substitution T G intron_variant SKCA-BR 9 36354441 36354441 single base substitution A T downstream_gene_variant SKCA-BR 9 36354441 36354441 single base substitution A T intron_variant SKCA-BR 9 36358941 36358941 single base substitution G A intron_variant SKCA-BR 9 36361284 36361284 single base substitution G A intron_variant SKCA-BR 9 36362897 36362897 single base substitution G A intron_variant SKCA-BR 9 36387562 36387562 single base substitution A G intron_variant SKCA-BR 9 36388228 36388228 single base substitution T G intron_variant SKCA-BR 9 36389045 36389045 single base substitution G A intron_variant SKCA-BR 9 36389922 36389922 single base substitution C T intron_variant SKCA-BR 9 36392884 36392884 single base substitution A C intron_variant SKCA-BR 9 36397080 36397080 single base substitution A G intron_variant SKCA-BR 9 36402793 36402793 single base substitution G A intron_variant SKCA-BR 9 36402793 36402793 single base substitution G A upstream_gene_variant SKCA-BR 9 36402990 36402990 single base substitution T G intron_variant SKCA-BR 9 36402990 36402990 single base substitution T G upstream_gene_variant SKCA-BR 9 36405159 36405159 single base substitution G A intron_variant SKCA-BR 9 36405159 36405159 single base substitution G A upstream_gene_variant SKCA-BR 9 36408263 36408263 insertion of <=200bp - AT intron_variant SKCA-BR 9 36408606 36408606 single base substitution G A intron_variant SKCA-BR 9 36412719 36412719 single base substitution G A intron_variant SKCA-BR 9 36412842 36412842 single base substitution G A intron_variant SKCA-BR 9 36415169 36415169 single base substitution A G intron_variant SKCA-BR 9 36416421 36416421 single base substitution G A intron_variant SKCA-BR 9 36417466 36417466 single base substitution C T intron_variant SKCA-BR 9 36417800 36417800 single base substitution A C intron_variant SKCA-BR 9 36418045 36418045 insertion of <=200bp - AT intron_variant SKCA-BR 9 36419301 36419301 single base substitution G A intron_variant SKCA-BR 9 36421121 36421121 single base substitution G A intron_variant SKCA-BR 9 36422426 36422426 insertion of <=200bp - CA intron_variant SKCA-BR 9 36424892 36424892 single base substitution T G intron_variant SKCA-BR 9 36424899 36424899 single base substitution C A intron_variant SKCA-BR 9 36427654 36427670 deletion of <=200bp CTCTATCTATCTATCTA - intron_variant SKCA-BR 9 36430909 36430909 single base substitution T C intron_variant SKCA-BR 9 36438241 36438241 single base substitution G T intron_variant SKCA-BR 9 36439485 36439485 single base substitution G A intron_variant SKCA-BR 9 36441093 36441093 single base substitution T G intron_variant SKCA-BR 9 36442347 36442347 single base substitution T C intron_variant SKCA-BR 9 36457345 36457345 single base substitution G A intron_variant SKCA-BR 9 36460900 36460904 deletion of <=200bp AAAAG - intron_variant SKCA-BR 9 36461345 36461345 single base substitution C T intron_variant SKCA-BR 9 36463091 36463091 single base substitution C G intron_variant SKCA-BR 9 36463983 36463983 single base substitution T G intron_variant SKCA-BR 9 36465900 36465900 single base substitution T A intron_variant SKCA-BR 9 36467157 36467157 insertion of <=200bp - CA intron_variant SKCA-BR 9 36467162 36467162 single base substitution C T intron_variant SKCA-BR 9 36467170 36467170 single base substitution C T intron_variant SKCA-BR 9 36470070 36470070 single base substitution G A intron_variant SKCA-BR 9 36471231 36471231 single base substitution T G intron_variant SKCA-BR 9 36473985 36473985 single base substitution G A intron_variant SKCA-BR 9 36476006 36476007 deletion of <=200bp CA - intron_variant SKCA-BR 9 36478037 36478037 insertion of <=200bp - CCAATAA intron_variant SKCA-BR 9 36478400 36478400 insertion of <=200bp - CA intron_variant SKCA-BR 9 36480539 36480539 single base substitution C T intron_variant SKCA-BR 9 36482063 36482063 single base substitution T C intron_variant SKCA-BR 9 36483452 36483452 single base substitution A G intron_variant SKCA-BR 9 36487837 36487837 single base substitution A C upstream_gene_variant SKCA-BR 9 36492094 36492094 single base substitution C T upstream_gene_variant SKCM-US 9 36352839 36352839 single base substitution G A downstream_gene_variant SKCM-US 9 36352839 36352839 single base substitution G A missense_variant P277S 829C>T SKCM-US 9 36352839 36352839 single base substitution G A missense_variant P284S 850C>T SKCM-US 9 36352839 36352839 single base substitution G A missense_variant P310S 928C>T SKCM-US 9 36352839 36352839 single base substitution G A missense_variant P360S 1078C>T SKCM-US 9 36356326 36356326 single base substitution G A downstream_gene_variant SKCM-US 9 36356326 36356326 single base substitution G A missense_variant P212S 634C>T SKCM-US 9 36356326 36356326 single base substitution G A missense_variant P219S 655C>T SKCM-US 9 36356326 36356326 single base substitution G A missense_variant P245S 733C>T SKCM-US 9 36356326 36356326 single base substitution G A missense_variant P295S 883C>T SKCM-US 9 36357773 36357773 single base substitution G A missense_variant P163L 488C>T SKCM-US 9 36357773 36357773 single base substitution G A missense_variant P170L 509C>T SKCM-US 9 36357773 36357773 single base substitution G A missense_variant P196L 587C>T SKCM-US 9 36357773 36357773 single base substitution G A missense_variant P246L 737C>T SKCM-US 9 36357773 36357773 single base substitution G A splice_region_variant SKCM-US 9 36390467 36390467 single base substitution G A 5_prime_UTR_variant SKCM-US 9 36390467 36390467 single base substitution G A exon_variant SKCM-US 9 36390467 36390467 single base substitution G A intron_variant SKCM-US 9 36390467 36390467 single base substitution G A synonymous_variant F53F 159C>T SKCM-US 9 36390535 36390535 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 9 36390535 36390535 single base substitution G A exon_variant SKCM-US 9 36390535 36390535 single base substitution G A intron_variant SKCM-US 9 36390535 36390535 single base substitution G A synonymous_variant L31L 91C>T SKCM-US 9 36390574 36390574 single base substitution G A 5_prime_UTR_variant SKCM-US 9 36390574 36390574 single base substitution G A exon_variant SKCM-US 9 36390574 36390574 single base substitution G A intron_variant SKCM-US 9 36390574 36390574 single base substitution G A missense_variant P18S 52C>T STAD-US 9 36339763 36339763 single base substitution G A missense_variant R429W 1285C>T STAD-US 9 36339763 36339763 single base substitution G A missense_variant R436W 1306C>T STAD-US 9 36339763 36339763 single base substitution G A missense_variant R462W 1384C>T STAD-US 9 36339763 36339763 single base substitution G A missense_variant R512W 1534C>T STAD-US 9 36342424 36342424 deletion of <=200bp A - splice_region_variant STAD-US 9 36353240 36353240 deletion of <=200bp G - downstream_gene_variant STAD-US 9 36353240 36353240 deletion of <=200bp G - frameshift_variant P250 STAD-US 9 36353240 36353240 deletion of <=200bp G - frameshift_variant P257 STAD-US 9 36353240 36353240 deletion of <=200bp G - frameshift_variant P283 STAD-US 9 36353240 36353240 deletion of <=200bp G - frameshift_variant P333 STAD-US 9 36357894 36357894 single base substitution C T exon_variant STAD-US 9 36357894 36357894 single base substitution C T missense_variant A123T 367G>A STAD-US 9 36357894 36357894 single base substitution C T missense_variant A130T 388G>A STAD-US 9 36357894 36357894 single base substitution C T missense_variant A156T 466G>A STAD-US 9 36357894 36357894 single base substitution C T missense_variant A206T 616G>A STAD-US 9 36357922 36357922 single base substitution G A exon_variant STAD-US 9 36357922 36357922 single base substitution G A synonymous_variant V113V 339C>T STAD-US 9 36357922 36357922 single base substitution G A synonymous_variant V120V 360C>T STAD-US 9 36357922 36357922 single base substitution G A synonymous_variant V146V 438C>T STAD-US 9 36357922 36357922 single base substitution G A synonymous_variant V196V 588C>T STAD-US 9 36369774 36369774 single base substitution A G exon_variant STAD-US 9 36369774 36369774 single base substitution A G missense_variant L121P 362T>C STAD-US 9 36369774 36369774 single base substitution A G missense_variant L171P 512T>C STAD-US 9 36369774 36369774 single base substitution A G missense_variant L88P 263T>C STAD-US 9 36369774 36369774 single base substitution A G missense_variant L95P 284T>C STAD-US 9 36390590 36390590 single base substitution T C 5_prime_UTR_variant STAD-US 9 36390590 36390590 single base substitution T C exon_variant STAD-US 9 36390590 36390590 single base substitution T C intron_variant STAD-US 9 36390590 36390590 single base substitution T C synonymous_variant A12A 36A>G UCEC-US 9 36342359 36342359 single base substitution T C missense_variant H400R 1199A>G UCEC-US 9 36342359 36342359 single base substitution T C missense_variant H407R 1220A>G UCEC-US 9 36342359 36342359 single base substitution T C missense_variant H433R 1298A>G UCEC-US 9 36342359 36342359 single base substitution T C missense_variant H483R 1448A>G UCEC-US 9 36344890 36344890 single base substitution C A missense_variant D359Y 1075G>T UCEC-US 9 36344890 36344890 single base substitution C A missense_variant D366Y 1096G>T UCEC-US 9 36344890 36344890 single base substitution C A missense_variant D392Y 1174G>T UCEC-US 9 36344890 36344890 single base substitution C A missense_variant D442Y 1324G>T UCEC-US 9 36351115 36351115 single base substitution G A synonymous_variant Y337Y 1011C>T UCEC-US 9 36351115 36351115 single base substitution G A synonymous_variant Y344Y 1032C>T UCEC-US 9 36351115 36351115 single base substitution G A synonymous_variant Y370Y 1110C>T UCEC-US 9 36351115 36351115 single base substitution G A synonymous_variant Y420Y 1260C>T UCEC-US 9 36351148 36351148 single base substitution T A missense_variant E326D 978A>T UCEC-US 9 36351148 36351148 single base substitution T A missense_variant E333D 999A>T UCEC-US 9 36351148 36351148 single base substitution T A missense_variant E359D 1077A>T UCEC-US 9 36351148 36351148 single base substitution T A missense_variant E409D 1227A>T UCEC-US 9 36352809 36352809 single base substitution G A downstream_gene_variant UCEC-US 9 36352809 36352809 single base substitution G A missense_variant R287C 859C>T UCEC-US 9 36352809 36352809 single base substitution G A missense_variant R294C 880C>T UCEC-US 9 36352809 36352809 single base substitution G A missense_variant R320C 958C>T UCEC-US 9 36352809 36352809 single base substitution G A missense_variant R370C 1108C>T UCEC-US 9 36353177 36353177 single base substitution G A downstream_gene_variant UCEC-US 9 36353177 36353177 single base substitution G A missense_variant S271F 812C>T UCEC-US 9 36353177 36353177 single base substitution G A missense_variant S278F 833C>T UCEC-US 9 36353177 36353177 single base substitution G A missense_variant S304F 911C>T UCEC-US 9 36353177 36353177 single base substitution G A missense_variant S354F 1061C>T UCEC-US 9 36353262 36353262 single base substitution A C downstream_gene_variant UCEC-US 9 36353262 36353262 single base substitution A C missense_variant Y243D 727T>G UCEC-US 9 36353262 36353262 single base substitution A C missense_variant Y250D 748T>G UCEC-US 9 36353262 36353262 single base substitution A C missense_variant Y276D 826T>G UCEC-US 9 36353262 36353262 single base substitution A C missense_variant Y326D 976T>G UCEC-US 9 36356413 36356413 single base substitution G T exon_variant UCEC-US 9 36356413 36356413 single base substitution G T missense_variant L183I 547C>A UCEC-US 9 36356413 36356413 single base substitution G T missense_variant L190I 568C>A UCEC-US 9 36356413 36356413 single base substitution G T missense_variant L216I 646C>A UCEC-US 9 36356413 36356413 single base substitution G T missense_variant L266I 796C>A UCEC-US 9 36357786 36357786 single base substitution T C exon_variant UCEC-US 9 36357786 36357786 single base substitution T C missense_variant S159G 475A>G UCEC-US 9 36357786 36357786 single base substitution T C missense_variant S166G 496A>G UCEC-US 9 36357786 36357786 single base substitution T C missense_variant S192G 574A>G UCEC-US 9 36357786 36357786 single base substitution T C missense_variant S242G 724A>G UCEC-US 9 36357880 36357880 single base substitution A G exon_variant UCEC-US 9 36357880 36357880 single base substitution A G synonymous_variant I127I 381T>C UCEC-US 9 36357880 36357880 single base substitution A G synonymous_variant I134I 402T>C UCEC-US 9 36357880 36357880 single base substitution A G synonymous_variant I160I 480T>C UCEC-US 9 36357880 36357880 single base substitution A G synonymous_variant I210I 630T>C UCEC-US 9 36375992 36375992 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 9 36375992 36375992 single base substitution G A downstream_gene_variant UCEC-US 9 36375992 36375992 single base substitution G A exon_variant UCEC-US 9 36375992 36375992 single base substitution G A stop_gained R16* 46C>T UCEC-US 9 36375992 36375992 single base substitution G A stop_gained R49* 145C>T UCEC-US 9 36375992 36375992 single base substitution G A stop_gained R99* 295C>T UCEC-US 9 36376030 36376030 single base substitution G A 5_prime_UTR_variant UCEC-US 9 36376030 36376030 single base substitution G A exon_variant UCEC-US 9 36376030 36376030 single base substitution G A missense_variant P36L 107C>T UCEC-US 9 36376030 36376030 single base substitution G A missense_variant P3L 8C>T UCEC-US 9 36376030 36376030 single base substitution G A missense_variant P86L 257C>T UCEC-US 9 36376031 36376031 single base substitution G A 5_prime_UTR_variant UCEC-US 9 36376031 36376031 single base substitution G A exon_variant UCEC-US 9 36376031 36376031 single base substitution G A missense_variant P36S 106C>T UCEC-US 9 36376031 36376031 single base substitution G A missense_variant P3S 7C>T UCEC-US 9 36376031 36376031 single base substitution G A missense_variant P86S 256C>T UCEC-US 9 36376094 36376094 single base substitution G A 5_prime_UTR_variant UCEC-US 9 36376094 36376094 single base substitution G A exon_variant UCEC-US 9 36376094 36376094 single base substitution G A missense_variant R15C 43C>T UCEC-US 9 36376094 36376094 single base substitution G A missense_variant R65C 193C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC-070T COSM3943034 c.779A>G p.Y260C Substitution - Missense 9:36356433-36356433 - TCGA-B5-A11E-01 COSM1108912 c.1448A>G p.H483R Substitution - Missense 9:36342362-36342362 - TCGA-BS-A0UF-01 COSM1108915 c.1227A>T p.E409D Substitution - Missense 9:36351151-36351151 - TCGA-06-0211-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - 0066_CRUK_PC_0066_T1_DNA COSM5421307 c.712delC p.L238fs*71 Deletion - Frameshift 9:36357801-36357801 - TCGA-HU-8602-01 COSM3907337 c.588C>T p.V196V Substitution - coding silent 9:36357925-36357925 - CSB1 COSM5027069 c.888C>G p.F296L Substitution - Missense 9:36356324-36356324 - TCGA-B5-A0JY-01 COSM1108922 c.295C>T p.R99* Substitution - Nonsense 9:36375995-36375995 - TCGA-FW-A3R5-06 COSM3926797 c.1078C>T p.P360S Substitution - Missense 9:36352842-36352842 - HCC55T COSM1624988 c.421G>A p.D141N Substitution - Missense 9:36369868-36369868 - ESCC-060T COSM3943032 c.1170A>G p.P390P Substitution - coding silent 9:36352750-36352750 - TCGA-D1-A16X-01 COSM1108914 c.1260C>T p.Y420Y Substitution - coding silent 9:36351118-36351118 - TCGA-B5-A11N-01 COSM1108918 c.976T>G p.Y326D Substitution - Missense 9:36353265-36353265 - WSU-HN8 COSM4602758 c.547G>A p.V183I Substitution - Missense 9:36369742-36369742 - TCGA-D3-A2JC-06 COSM3657352 c.883C>T p.P295S Substitution - Missense 9:36356329-36356329 - TCGA-06-0213-01 COSM1559851 c.521C>G p.A174G Substitution - Missense 9:36369768-36369768 - TCGA-06-0124-01 COSM1559851 c.521C>G p.A174G Substitution - Missense 9:36369768-36369768 - CHC1603T COSM4801800 c.1179-2A>T p.? Unknown 9:36351201-36351201 - TCGA-02-0009-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - D7 COSM5007650 c.12+2T>G p.? Unknown 9:36400095-36400095 - TCGA-02-0033-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - YUKAT COSM5411072 c.1475A>G p.K492R Substitution - Missense 9:36342335-36342335 - PD11819a COSM5770236 c.476G>A p.R159Q Substitution - Missense 9:36369813-36369813 - TCGA-AP-A0LM-01 COSM1108913 c.1324G>T p.D442Y Substitution - Missense 9:36344893-36344893 - PD18024a COSM5777258 c.1513G>C p.A505P Substitution - Missense 9:36339787-36339787 - TCGA-BR-4361-01 COSM3907341 c.36A>G p.A12A Substitution - coding silent 9:36390593-36390593 - CSCC-41-T COSM4569314 c.165T>G p.S55R Substitution - Missense 9:36376125-36376125 - TCGA-G4-6588-01 COSM5179314 c.739-3C>T p.? Unknown 9:36356476-36356476 - RK053_C01 COSM3745999 c.178A>G p.S60G Substitution - Missense 9:36376112-36376112 - TCGA-EE-A2GI-06 COSM3657357 c.91C>T p.L31L Substitution - coding silent 9:36390538-36390538 - 61 COSM5738596 c.1306C>T p.R436C Substitution - Missense 9:36344911-36344911 - ESCC_83 COSM5636344 c.1429delA p.R477fs*>39 Deletion - Frameshift 9:36342381-36342381 - TCGA-FS-A1ZM-06 COSM3657354 c.737C>T p.P246L Substitution - Missense 9:36357776-36357776 - TCGA-29-1707-01 COSM1331550 c.997C>G p.P333A Substitution - Missense 9:36353244-36353244 - TCGA-FS-A1Z3-06 COSM3657358 c.52C>T p.P18S Substitution - Missense 9:36390577-36390577 - YURAY COSM5411074 c.597T>C p.S199S Substitution - coding silent 9:36357916-36357916 - RK006_C02 COSM1636183 c.116A>C p.Q39P Substitution - Missense 9:36390513-36390513 - TCGA-06-0176-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - BCM375T COSM4799282 c.1146C>G p.P382P Substitution - coding silent 9:36352774-36352774 - HCC55 COSM1624988 c.421G>A p.D141N Substitution - Missense 9:36369868-36369868 - CHC1603T COSM4801800 c.1179-2A>T p.? Unknown 9:36351201-36351201 - TCGA-AA-3977-01 COSM5120115 c.12+10T>G p.? Unknown 9:36400087-36400087 - PCSI_0216_Pa_P_526 COSM5762215 c.1218C>T p.F406F Substitution - coding silent 9:36351160-36351160 - C0047T COSM4138948 c.909+2T>A p.? Unknown 9:36356301-36356301 - SC_9099 COSM5565020 c.904C>T p.R302* Substitution - Nonsense 9:36356308-36356308 - 169 COSM3728918 c.910-8delC p.? Unknown 9:36353339-36353339 - T2948 COSM4722190 c.1510C>T p.R504* Substitution - Nonsense 9:36339790-36339790 - GC8_T COSM150607 c.1487-10G>T p.? Unknown 9:36339823-36339823 - TCGA-D1-A167-01 COSM1108924 c.256C>T p.P86S Substitution - Missense 9:36376034-36376034 - H1155 COSM1195715 c.1082C>T p.P361L Substitution - Missense 9:36352838-36352838 - HCC132 COSM1624987 c.924A>T p.I308I Substitution - coding silent 9:36353317-36353317 - CHC1061T COSM251110 c.829C>T p.P277S Substitution - Missense 9:36356383-36356383 - B96-Tumor COSM1756169 c.1333C>T p.Q445* Substitution - Nonsense 9:36344884-36344884 - BCM375T COSM4799282 c.1146C>G p.P382P Substitution - coding silent 9:36352774-36352774 - U2940 COSM5621721 c.752G>A p.C251Y Substitution - Missense 9:36356460-36356460 - TCGA-AY-4071-01 COSM301390 c.570G>A p.Q190Q Substitution - coding silent 9:36369719-36369719 - TCGA-AB-2854-03 COSM1319599 c.440T>C p.L147P Substitution - Missense 9:36369849-36369849 - YUWAND COSM1701085 c.847C>T p.H283Y Substitution - Missense 9:36356365-36356365 - TCGA-06-0138-01 COSM43027 c.761A>T p.Q254L Substitution - Missense 9:36356451-36356451 - TCGA-F1-6875-01 COSM3907333 c.1534C>T p.R512W Substitution - Missense 9:36339766-36339766 - B96 COSM1756169 c.1333C>T p.Q445* Substitution - Nonsense 9:36344884-36344884 - TCGA-06-0185-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - CHC1061T COSM251110 c.829C>T p.P277S Substitution - Missense 9:36356383-36356383 - 0119_CRUK_PC_0119_T1_DNA COSM5422462 c.1324G>C p.D442H Substitution - Missense 9:36344893-36344893 - MD-296 COSM303123 c.561A>G p.I187M Substitution - Missense 9:36369728-36369728 - TCGA-D1-A103-01 COSM1108919 c.796C>A p.L266I Substitution - Missense 9:36356416-36356416 - TCGA-BR-4362-01 COSM3907339 c.512T>C p.L171P Substitution - Missense 9:36369777-36369777 - PD3194a COSM1659033 c.623A>G p.H208R Substitution - Missense 9:36357890-36357890 - TCGA-B0-4827-01 COSM487453 c.171T>A p.D57E Substitution - Missense 9:36376119-36376119 - TCGA-BR-6706-01 COSM3907335 c.616G>A p.A206T Substitution - Missense 9:36357897-36357897 - TCGA-AX-A0J1-01 COSM1108916 c.1108C>T p.R370C Substitution - Missense 9:36352812-36352812 - PT52 COSM5939965 c.573C>T p.L191L Substitution - coding silent 9:36357940-36357940 - TCGA-AP-A051-01 COSM1108921 c.630T>C p.I210I Substitution - coding silent 9:36357883-36357883 - TCGA-02-0006-01 COSM1559851 c.521C>G p.A174G Substitution - Missense 9:36369768-36369768 - HCC132T COSM1624987 c.924A>T p.I308I Substitution - coding silent 9:36353317-36353317 - pfg016T COSM1643833 c.1386-3delT p.? Unknown 9:36342427-36342427 - TCGA-06-0214-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - TCGA-A8-A075-01 COSM455945 c.1383T>C p.T461T Substitution - coding silent 9:36344834-36344834 - TCGA-BS-A0UF-01 COSM1108917 c.1061C>T p.S354F Substitution - Missense 9:36353180-36353180 - ccRCC-92 COSM1108919 c.796C>A p.L266I Substitution - Missense 9:36356416-36356416 - TCGA-06-0166-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - TCGA-F4-6570-01 COSM1462372 c.1094G>A p.R365Q Substitution - Missense 9:36352826-36352826 - TCGA-06-0125-01 COSM1559852 c.441C>T p.L147L Substitution - coding silent 9:36369848-36369848 - TCGA-AX-A0J1-01 COSM1108925 c.193C>T p.R65C Substitution - Missense 9:36376097-36376097 - TCGA-BS-A0UJ-01 COSM1108920 c.724A>G p.S242G Substitution - Missense 9:36357789-36357789 - TCGA-AP-A059-01 COSM1108923 c.257C>T p.P86L Substitution - Missense 9:36376033-36376033 - TCGA-EE-A2MS-06 COSM3657356 c.159C>T p.F53F Substitution - coding silent 9:36390470-36390470 - TP_2061 COSM5569719 c.335C>T p.T112I Substitution - Missense 9:36375955-36375955 - TCGA-BH-A18G-01 COSM3848540 c.955C>T p.L319F Substitution - Missense 9:36353286-36353286 - PTC-7C COSM4163842 c.789C>A p.F263L Substitution - Missense 9:36356423-36356423 - TCGA-A6-6781-01 COSM1462372 c.1094G>A p.R365Q Substitution - Missense 9:36352826-36352826 - 18 COSM5745039 c.355delA p.S119fs*37 Deletion - Frameshift 9:36375935-36375935 - I2L-P19Ta-Tumor-Organoid COSM3728918 c.910-8delC p.? Unknown 9:36353339-36353339 - TCGA-AA-A010-01 COSM299476 c.574C>A p.H192N Substitution - Missense 9:36357939-36357939 - 067T COSM1730490 c.631C>G p.P211A Substitution - Missense 9:36357882-36357882 - TGH COSM1108925 c.193C>T p.R65C Substitution - Missense 9:36376097-36376097 - PTC-7C COSM4163840 c.790C>G p.P264A Substitution - Missense 9:36356422-36356422 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.333503 9p13 612488

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.T461T c.1383T>C 9 36344831 BRCA A - IntronicDeletion . c.1386-3delT 9 36342424 STAD A T Missense p.D57E c.171T>A 9 36376116 RCCC C T Missense p.A206T c.616G>A 9 36357894 STAD C T Synonymous p.Q190Q c.570G>A 9 36369716 COREAD G A Missense p.P148L c.443C>T 9 36369843 CM G A Missense p.P18S c.52C>T 9 36390574 CM G A Missense p.P246L c.737C>T 9 36357773 CM G A Missense p.P265S c.793C>T 9 36356416 LUAD G A Missense p.P295S c.883C>T 9 36356326 CM G A Synonymous p.F53F c.159C>T 9 36390467 CM G A Synonymous p.L31L c.91C>T 9 36390535 CM G C Missense p.F296L c.888C>G 9 36356321 BRCA G C Missense p.P227R c.680C>G 9 36357830 CM G C Missense p.P337A c.1009C>G 9 36353229 LUAD T A Missense p.Q249L c.746A>T 9 36356463 LUAD T C IntronicSNV . c.357-1973A>G 9 36371902 CLL T G Missense p.Q39P c.116A>C 9 36390510 HC