Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 18 12986994 12986994 + 3'UTR SNP C C A TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr18:12986994C>A BLCA 18 12948141 12948141 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr18:12948141C>T c.21C>T c.(19-21)atC>atT p.I7I BLCA 18 12963256 12963256 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr18:12963256A>G c.407A>G c.(406-408)gAt>gGt p.D136G BLCA 18 12982559 12982559 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr18:12982559C>T c.804C>T c.(802-804)atC>atT p.I268I BLCA 18 12982593 12982593 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr18:12982593C>T c.838C>T c.(838-840)Cag>Tag p.Q280* BRCA 18 12971157 12971157 + Missense_Mutation SNP G G A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 g.chr18:12971157G>A c.527G>A c.(526-528)cGt>cAt p.R176H BRCA 18 12971224 12971224 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:12971224G>C c.594G>C c.(592-594)caG>caC p.Q198H BRCA 18 12984155 12984155 + Missense_Mutation SNP C C T TCGA-A2-A4S1-01A-21D-A25Q-09 TCGA-A2-A4S1-10A-01D-A25Q-09 g.chr18:12984155C>T c.1036C>T c.(1036-1038)Ctt>Ttt p.L346F BRCA 18 12984180 12984180 + Missense_Mutation SNP C C T TCGA-A2-A4S1-01A-21D-A25Q-09 TCGA-A2-A4S1-10A-01D-A25Q-09 g.chr18:12984180C>T c.1061C>T c.(1060-1062)tCt>tTt p.S354F COAD 18 12986900 12986900 + 3'UTR SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:12986900G>A COADREAD 18 12984076 12984076 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr18:12984076G>T c.957G>T c.(955-957)ttG>ttT p.L319F COADREAD 18 12986900 12986900 + 3'UTR SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:12986900G>A ESCA 18 12955479 12955479 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr18:12955479A>G c.180A>G c.(178-180)gtA>gtG p.V60V ESCA 18 12955489 12955489 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr18:12955489A>C c.190A>C c.(190-192)Aca>Cca p.T64P ESCA 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr18:12986927_12986929delTCC ESCA 18 12987007 12987007 + 3'UTR SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr18:12987007G>T GBMLGG 18 12948202 12948202 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:12948202G>A c.82G>A c.(82-84)Gca>Aca p.A28T GBMLGG 18 12951898 12951898 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:12951898C>A c.156C>A c.(154-156)agC>agA p.S52R GBMLGG 18 12955479 12955479 + Silent SNP A A G TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 g.chr18:12955479A>G c.180A>G c.(178-180)gtA>gtG p.V60V HNSC 18 12986890 12986890 + 3'UTR SNP G G A TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr18:12986890G>A HNSC 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr18:12986927_12986929delTCC HNSC 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 g.chr18:12986927_12986929delTCC HNSC 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr18:12986927_12986929delTCC KIPAN 18 12963339 12963339 + Missense_Mutation SNP A A C TCGA-CJ-4893-01A-01D-1373-10 TCGA-CJ-4893-11A-01D-1373-10 g.chr18:12963339A>C c.490A>C c.(490-492)Agc>Cgc p.S164R KIRC 18 12963339 12963339 + Missense_Mutation SNP A A C TCGA-CJ-4893-01A-01D-1373-10 TCGA-CJ-4893-11A-01D-1373-10 g.chr18:12963339A>C c.490A>C c.(490-492)Agc>Cgc p.S164R LGG 18 12948202 12948202 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:12948202G>A c.82G>A c.(82-84)Gca>Aca p.A28T LGG 18 12951898 12951898 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:12951898C>A c.156C>A c.(154-156)agC>agA p.S52R LGG 18 12955479 12955479 + Silent SNP A A G TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 g.chr18:12955479A>G c.180A>G c.(178-180)gtA>gtG p.V60V LUAD 18 12955608 12955608 + Splice_Site SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr18:12955608G>T c.309G>T c.(307-309)tgG>tgT p.W103C LUAD 18 12982536 12982536 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr18:12982536G>T c.781G>T c.(781-783)Ggt>Tgt p.G261C LUSC 18 12982531 12982531 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr18:12982531C>T c.776C>T c.(775-777)tCc>tTc p.S259F PAAD 18 12955494 12955494 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:12955494G>A c.195G>A c.(193-195)tgG>tgA p.W65* PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-2L-AAQE-01A-11D-A397-08 TCGA-2L-AAQE-11A-11D-A39A-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr18:12986927_12986929delTCC PAAD 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr18:12986927_12986929delTCC PCPG 18 12971218 12971218 + Missense_Mutation SNP G G T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 g.chr18:12971218G>T c.588G>T c.(586-588)aaG>aaT p.K196N PRAD 18 12955541 12955541 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 g.chr18:12955541G>A c.242G>A c.(241-243)cGa>cAa p.R81Q PRAD 18 12986964 12986964 + 3'UTR SNP G G A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 g.chr18:12986964G>A READ 18 12984076 12984076 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr18:12984076G>T c.957G>T c.(955-957)ttG>ttT p.L319F SARC 18 12986927 12986929 + 3'UTR DEL TCC TCC - TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 g.chr18:12986927_12986929delTCC SKCM 18 12963211 12963211 + Missense_Mutation SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr18:12963211T>C c.362T>C c.(361-363)tTt>tCt p.F121S SKCM 18 12982560 12982560 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr18:12982560C>T c.805C>T c.(805-807)Cat>Tat p.H269Y SKCM 18 12982560 12982560 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:12982560C>T c.805C>T c.(805-807)Cat>Tat p.H269Y SKCM 18 12984110 12984110 + Nonsense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr18:12984110C>T c.991C>T c.(991-993)Cag>Tag p.Q331* SKCM 18 12984128 12984128 + Missense_Mutation SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr18:12984128C>T c.1009C>T c.(1009-1011)Cct>Tct p.P337S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 12948141 12948141 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 18 12948141 12948141 single base substitution C T synonymous_variant I7I 21C>T BLCA-US 18 12948141 12948141 single base substitution C T upstream_gene_variant BRCA-EU 18 12943087 12943087 single base substitution C A upstream_gene_variant BRCA-EU 18 12943090 12943090 single base substitution C A upstream_gene_variant BRCA-EU 18 12944569 12944569 single base substitution A T upstream_gene_variant BRCA-EU 18 12945182 12945182 single base substitution T C upstream_gene_variant BRCA-EU 18 12947608 12947608 single base substitution T C 5_prime_UTR_variant BRCA-EU 18 12947608 12947608 single base substitution T C upstream_gene_variant BRCA-EU 18 12947616 12947616 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 18 12947616 12947616 single base substitution C G upstream_gene_variant BRCA-EU 18 12948811 12948811 single base substitution C G intron_variant BRCA-EU 18 12949701 12949701 single base substitution C T intron_variant BRCA-EU 18 12949970 12949970 single base substitution C T intron_variant BRCA-EU 18 12952084 12952084 single base substitution A G intron_variant BRCA-EU 18 12953254 12953254 single base substitution C G intron_variant BRCA-EU 18 12954079 12954079 deletion of <=200bp A - intron_variant BRCA-EU 18 12954474 12954474 deletion of <=200bp T - intron_variant BRCA-EU 18 12955042 12955042 single base substitution A G intron_variant BRCA-EU 18 12955983 12955983 single base substitution C T downstream_gene_variant BRCA-EU 18 12955983 12955983 single base substitution C T intron_variant BRCA-EU 18 12957690 12957690 single base substitution C T downstream_gene_variant BRCA-EU 18 12957690 12957690 single base substitution C T intron_variant BRCA-EU 18 12958374 12958374 single base substitution C T downstream_gene_variant BRCA-EU 18 12958374 12958374 single base substitution C T intron_variant BRCA-EU 18 12958806 12958806 single base substitution G A downstream_gene_variant BRCA-EU 18 12958806 12958806 single base substitution G A intron_variant BRCA-EU 18 12959113 12959113 single base substitution T G downstream_gene_variant BRCA-EU 18 12959113 12959113 single base substitution T G intron_variant BRCA-EU 18 12959356 12959356 single base substitution C T downstream_gene_variant BRCA-EU 18 12959356 12959356 single base substitution C T intron_variant BRCA-EU 18 12959414 12959414 single base substitution C G downstream_gene_variant BRCA-EU 18 12959414 12959414 single base substitution C G intron_variant BRCA-EU 18 12959796 12959796 single base substitution C T downstream_gene_variant BRCA-EU 18 12959796 12959796 single base substitution C T intron_variant BRCA-EU 18 12960184 12960184 single base substitution T C downstream_gene_variant BRCA-EU 18 12960184 12960184 single base substitution T C intron_variant BRCA-EU 18 12961285 12961285 single base substitution A G intron_variant BRCA-EU 18 12961387 12961387 single base substitution G A intron_variant BRCA-EU 18 12961956 12961956 single base substitution C A intron_variant BRCA-EU 18 12962324 12962324 single base substitution G C intron_variant BRCA-EU 18 12963963 12963963 single base substitution C T intron_variant BRCA-EU 18 12964052 12964052 single base substitution C A intron_variant BRCA-EU 18 12964326 12964326 single base substitution A G intron_variant BRCA-EU 18 12965946 12965946 single base substitution C G intron_variant BRCA-EU 18 12968885 12968885 single base substitution A G intron_variant BRCA-EU 18 12968885 12968885 single base substitution A G upstream_gene_variant BRCA-EU 18 12969350 12969350 single base substitution C G intron_variant BRCA-EU 18 12969350 12969350 single base substitution C G upstream_gene_variant BRCA-EU 18 12969846 12969846 single base substitution G A intron_variant BRCA-EU 18 12969846 12969846 single base substitution G A upstream_gene_variant BRCA-EU 18 12970544 12970544 single base substitution G A intron_variant BRCA-EU 18 12970544 12970544 single base substitution G A upstream_gene_variant BRCA-EU 18 12970908 12970908 single base substitution A G intron_variant BRCA-EU 18 12970908 12970908 single base substitution A G upstream_gene_variant BRCA-EU 18 12971478 12971478 insertion of <=200bp - A downstream_gene_variant BRCA-EU 18 12971478 12971478 insertion of <=200bp - A intron_variant BRCA-EU 18 12971478 12971478 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 12972871 12972871 single base substitution G C downstream_gene_variant BRCA-EU 18 12972871 12972871 single base substitution G C exon_variant BRCA-EU 18 12972871 12972871 single base substitution G C intron_variant BRCA-EU 18 12972871 12972871 single base substitution G C upstream_gene_variant BRCA-EU 18 12973513 12973513 single base substitution T G downstream_gene_variant BRCA-EU 18 12973513 12973513 single base substitution T G exon_variant BRCA-EU 18 12973513 12973513 single base substitution T G intron_variant BRCA-EU 18 12973513 12973513 single base substitution T G upstream_gene_variant BRCA-EU 18 12974285 12974285 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 12974285 12974285 insertion of <=200bp - T exon_variant BRCA-EU 18 12974285 12974285 insertion of <=200bp - T intron_variant BRCA-EU 18 12974285 12974285 insertion of <=200bp - T upstream_gene_variant BRCA-EU 18 12975402 12975402 single base substitution C T downstream_gene_variant BRCA-EU 18 12975402 12975402 single base substitution C T intron_variant BRCA-EU 18 12975402 12975402 single base substitution C T upstream_gene_variant BRCA-EU 18 12975729 12975729 single base substitution T C downstream_gene_variant BRCA-EU 18 12975729 12975729 single base substitution T C intron_variant BRCA-EU 18 12975729 12975729 single base substitution T C splice_region_variant BRCA-EU 18 12975729 12975729 single base substitution T C upstream_gene_variant BRCA-EU 18 12977490 12977490 single base substitution G C exon_variant BRCA-EU 18 12977490 12977490 single base substitution G C intron_variant BRCA-EU 18 12977490 12977490 single base substitution G C upstream_gene_variant BRCA-EU 18 12978913 12978913 single base substitution G A downstream_gene_variant BRCA-EU 18 12978913 12978913 single base substitution G A intron_variant BRCA-EU 18 12979127 12979127 single base substitution C T downstream_gene_variant BRCA-EU 18 12979127 12979127 single base substitution C T intron_variant BRCA-EU 18 12979830 12979830 single base substitution G T downstream_gene_variant BRCA-EU 18 12979830 12979830 single base substitution G T intron_variant BRCA-EU 18 12980253 12980253 single base substitution C A downstream_gene_variant BRCA-EU 18 12980253 12980253 single base substitution C A intron_variant BRCA-EU 18 12980608 12980608 single base substitution C T downstream_gene_variant BRCA-EU 18 12980608 12980608 single base substitution C T intron_variant BRCA-EU 18 12981138 12981138 single base substitution G C downstream_gene_variant BRCA-EU 18 12981138 12981138 single base substitution G C intron_variant BRCA-EU 18 12981346 12981346 single base substitution G A downstream_gene_variant BRCA-EU 18 12981346 12981346 single base substitution G A intron_variant BRCA-EU 18 12981437 12981437 single base substitution C T downstream_gene_variant BRCA-EU 18 12981437 12981437 single base substitution C T intron_variant BRCA-EU 18 12982862 12982879 deletion of <=200bp AGTTATGTGGAACAGAGC - downstream_gene_variant BRCA-EU 18 12982862 12982879 deletion of <=200bp AGTTATGTGGAACAGAGC - exon_variant BRCA-EU 18 12982862 12982879 deletion of <=200bp AGTTATGTGGAACAGAGC - intron_variant BRCA-EU 18 12983662 12983662 single base substitution G C downstream_gene_variant BRCA-EU 18 12983662 12983662 single base substitution G C intron_variant BRCA-EU 18 12983672 12983684 deletion of <=200bp TCATTACCTTACA - downstream_gene_variant BRCA-EU 18 12983672 12983684 deletion of <=200bp TCATTACCTTACA - intron_variant BRCA-EU 18 12984374 12984374 single base substitution G A downstream_gene_variant BRCA-EU 18 12984374 12984374 single base substitution G A intron_variant BRCA-EU 18 12984725 12984725 single base substitution C G downstream_gene_variant BRCA-EU 18 12984725 12984725 single base substitution C G intron_variant BRCA-EU 18 12985594 12985594 single base substitution A T 3_prime_UTR_variant BRCA-EU 18 12985594 12985594 single base substitution A T downstream_gene_variant BRCA-EU 18 12985594 12985594 single base substitution A T exon_variant BRCA-EU 18 12985594 12985594 single base substitution A T intron_variant BRCA-EU 18 12986432 12986432 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 18 12986432 12986432 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 12986432 12986432 deletion of <=200bp A - exon_variant BRCA-EU 18 12986432 12986432 deletion of <=200bp A - intron_variant BRCA-EU 18 12987010 12987010 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 12987010 12987010 single base substitution A G downstream_gene_variant BRCA-EU 18 12987010 12987010 single base substitution A G exon_variant BRCA-EU 18 12987010 12987010 single base substitution A G missense_variant Y407C 1220A>G BRCA-EU 18 12987339 12987339 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 12987339 12987339 single base substitution G A downstream_gene_variant BRCA-EU 18 12987339 12987339 single base substitution G A exon_variant BRCA-EU 18 12987748 12987748 insertion of <=200bp - A downstream_gene_variant BRCA-EU 18 12988373 12988373 single base substitution A T downstream_gene_variant BRCA-EU 18 12989597 12989597 single base substitution C T downstream_gene_variant BRCA-EU 18 12990104 12990104 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 12991087 12991087 single base substitution A C downstream_gene_variant BRCA-EU 18 12991325 12991325 single base substitution C A downstream_gene_variant BRCA-FR 18 12949701 12949701 single base substitution C T intron_variant BRCA-FR 18 12949748 12949748 single base substitution G A intron_variant BRCA-FR 18 12959414 12959414 single base substitution C G downstream_gene_variant BRCA-FR 18 12959414 12959414 single base substitution C G intron_variant BRCA-FR 18 12964052 12964052 single base substitution C A intron_variant BRCA-FR 18 12965946 12965946 single base substitution C G intron_variant BRCA-FR 18 12969350 12969350 single base substitution C G intron_variant BRCA-FR 18 12969350 12969350 single base substitution C G upstream_gene_variant BRCA-FR 18 12970908 12970908 single base substitution A G intron_variant BRCA-FR 18 12970908 12970908 single base substitution A G upstream_gene_variant BRCA-FR 18 12972871 12972871 single base substitution G C downstream_gene_variant BRCA-FR 18 12972871 12972871 single base substitution G C exon_variant BRCA-FR 18 12972871 12972871 single base substitution G C intron_variant BRCA-FR 18 12972871 12972871 single base substitution G C upstream_gene_variant BRCA-FR 18 12977490 12977490 single base substitution G C exon_variant BRCA-FR 18 12977490 12977490 single base substitution G C intron_variant BRCA-FR 18 12977490 12977490 single base substitution G C upstream_gene_variant BRCA-FR 18 12984374 12984374 single base substitution G A downstream_gene_variant BRCA-FR 18 12984374 12984374 single base substitution G A intron_variant BRCA-FR 18 12988643 12988643 single base substitution G A downstream_gene_variant BRCA-UK 18 12943113 12943113 single base substitution C T upstream_gene_variant BRCA-UK 18 12948811 12948811 single base substitution C G intron_variant BRCA-UK 18 12968772 12968772 single base substitution C T intron_variant BRCA-UK 18 12968772 12968772 single base substitution C T upstream_gene_variant BRCA-UK 18 12973513 12973513 single base substitution T G downstream_gene_variant BRCA-UK 18 12973513 12973513 single base substitution T G exon_variant BRCA-UK 18 12973513 12973513 single base substitution T G intron_variant BRCA-UK 18 12973513 12973513 single base substitution T G upstream_gene_variant BRCA-US 18 12955467 12955467 single base substitution T C exon_variant BRCA-US 18 12955467 12955467 single base substitution T C intron_variant BRCA-US 18 12955467 12955467 single base substitution T C synonymous_variant H30H 90T>C BRCA-US 18 12955467 12955467 single base substitution T C synonymous_variant H39H 117T>C BRCA-US 18 12955467 12955467 single base substitution T C synonymous_variant H56H 168T>C BRCA-US 18 12971157 12971157 single base substitution G A exon_variant BRCA-US 18 12971157 12971157 single base substitution G A missense_variant R127H 380G>A BRCA-US 18 12971157 12971157 single base substitution G A missense_variant R159H 476G>A BRCA-US 18 12971157 12971157 single base substitution G A missense_variant R176H 527G>A BRCA-US 18 12971157 12971157 single base substitution G A missense_variant R196H 587G>A BRCA-US 18 12971157 12971157 single base substitution G A upstream_gene_variant BRCA-US 18 12971224 12971224 single base substitution G C exon_variant BRCA-US 18 12971224 12971224 single base substitution G C missense_variant Q149H 447G>C BRCA-US 18 12971224 12971224 single base substitution G C missense_variant Q181H 543G>C BRCA-US 18 12971224 12971224 single base substitution G C missense_variant Q198H 594G>C BRCA-US 18 12971224 12971224 single base substitution G C missense_variant Q218H 654G>C BRCA-US 18 12971224 12971224 single base substitution G C upstream_gene_variant BRCA-US 18 12984155 12984155 single base substitution C T downstream_gene_variant BRCA-US 18 12984155 12984155 single base substitution C T exon_variant BRCA-US 18 12984155 12984155 single base substitution C T missense_variant L346F 1036C>T BRCA-US 18 12984180 12984180 single base substitution C T downstream_gene_variant BRCA-US 18 12984180 12984180 single base substitution C T exon_variant BRCA-US 18 12984180 12984180 single base substitution C T missense_variant S354F 1061C>T BTCA-JP 18 12986927 12986929 deletion of <=200bp TCC - 3_prime_UTR_variant BTCA-JP 18 12986927 12986929 deletion of <=200bp TCC - downstream_gene_variant BTCA-JP 18 12986927 12986929 deletion of <=200bp TCC - exon_variant BTCA-JP 18 12986927 12986929 deletion of <=200bp TCC - inframe_deletion LP379L CLLE-ES 18 12958536 12958536 single base substitution C G downstream_gene_variant CLLE-ES 18 12958536 12958536 single base substitution C G intron_variant COCA-CN 18 12948075 12948075 single base substitution T C 5_prime_UTR_variant COCA-CN 18 12948075 12948075 single base substitution T C intron_variant COCA-CN 18 12948075 12948075 single base substitution T C upstream_gene_variant COCA-CN 18 12955439 12955439 single base substitution C T intron_variant COCA-CN 18 12978812 12978812 single base substitution G A exon_variant COCA-CN 18 12978812 12978812 single base substitution G A missense_variant A228T 682G>A COCA-CN 18 12978812 12978812 single base substitution G A missense_variant A248T 742G>A COCA-CN 18 12978812 12978812 single base substitution G A upstream_gene_variant COCA-CN 18 12978971 12978971 single base substitution T C downstream_gene_variant COCA-CN 18 12978971 12978971 single base substitution T C intron_variant COCA-CN 18 12979028 12979028 single base substitution T C downstream_gene_variant COCA-CN 18 12979028 12979028 single base substitution T C intron_variant EOPC-DE 18 12982670 12982670 single base substitution G A downstream_gene_variant EOPC-DE 18 12982670 12982670 single base substitution G A exon_variant EOPC-DE 18 12982670 12982670 single base substitution G A stop_gained W305* 915G>A ESAD-UK 18 12942398 12942398 single base substitution A T upstream_gene_variant ESAD-UK 18 12942458 12942458 deletion of <=200bp T - upstream_gene_variant ESAD-UK 18 12942575 12942575 single base substitution A G upstream_gene_variant ESAD-UK 18 12953774 12953774 single base substitution C T intron_variant ESAD-UK 18 12956278 12956278 single base substitution C T downstream_gene_variant ESAD-UK 18 12956278 12956278 single base substitution C T intron_variant ESAD-UK 18 12957472 12957472 single base substitution C T downstream_gene_variant ESAD-UK 18 12957472 12957472 single base substitution C T intron_variant ESAD-UK 18 12957999 12957999 single base substitution C T downstream_gene_variant ESAD-UK 18 12957999 12957999 single base substitution C T intron_variant ESAD-UK 18 12960226 12960226 single base substitution C T downstream_gene_variant ESAD-UK 18 12960226 12960226 single base substitution C T intron_variant ESAD-UK 18 12961886 12961886 insertion of <=200bp - GA intron_variant ESAD-UK 18 12962890 12962890 single base substitution T C intron_variant ESAD-UK 18 12968097 12968097 single base substitution C G intron_variant ESAD-UK 18 12968097 12968097 single base substitution C G upstream_gene_variant ESAD-UK 18 12970038 12970038 single base substitution C G intron_variant ESAD-UK 18 12970038 12970038 single base substitution C G upstream_gene_variant ESAD-UK 18 12971265 12971265 single base substitution G A downstream_gene_variant ESAD-UK 18 12971265 12971265 single base substitution G A intron_variant ESAD-UK 18 12971265 12971265 single base substitution G A upstream_gene_variant ESAD-UK 18 12975127 12975127 single base substitution G A downstream_gene_variant ESAD-UK 18 12975127 12975127 single base substitution G A intron_variant ESAD-UK 18 12975127 12975127 single base substitution G A upstream_gene_variant ESAD-UK 18 12978550 12978550 single base substitution C T exon_variant ESAD-UK 18 12978550 12978550 single base substitution C T intron_variant ESAD-UK 18 12978550 12978550 single base substitution C T upstream_gene_variant ESAD-UK 18 12985096 12985096 single base substitution G A downstream_gene_variant ESAD-UK 18 12985096 12985096 single base substitution G A intron_variant ESAD-UK 18 12985568 12985568 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 12985568 12985568 single base substitution C T downstream_gene_variant ESAD-UK 18 12985568 12985568 single base substitution C T exon_variant ESAD-UK 18 12985568 12985568 single base substitution C T intron_variant ESAD-UK 18 12985913 12985913 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 12985913 12985913 single base substitution C T downstream_gene_variant ESAD-UK 18 12985913 12985913 single base substitution C T exon_variant ESAD-UK 18 12985913 12985913 single base substitution C T intron_variant ESAD-UK 18 12985987 12985987 single base substitution T G 3_prime_UTR_variant ESAD-UK 18 12985987 12985987 single base substitution T G downstream_gene_variant ESAD-UK 18 12985987 12985987 single base substitution T G exon_variant ESAD-UK 18 12985987 12985987 single base substitution T G intron_variant ESAD-UK 18 12986431 12986431 single base substitution T A 3_prime_UTR_variant ESAD-UK 18 12986431 12986431 single base substitution T A downstream_gene_variant ESAD-UK 18 12986431 12986431 single base substitution T A exon_variant ESAD-UK 18 12986431 12986431 single base substitution T A intron_variant KIRC-US 18 12963339 12963339 single base substitution A C exon_variant KIRC-US 18 12963339 12963339 single base substitution A C missense_variant S115R 343A>C KIRC-US 18 12963339 12963339 single base substitution A C missense_variant S147R 439A>C KIRC-US 18 12963339 12963339 single base substitution A C missense_variant S164R 490A>C LAML-KR 18 12957320 12957320 single base substitution A T downstream_gene_variant LAML-KR 18 12957320 12957320 single base substitution A T intron_variant LAML-KR 18 12971179 12971179 single base substitution C T exon_variant LAML-KR 18 12971179 12971179 single base substitution C T synonymous_variant A134A 402C>T LAML-KR 18 12971179 12971179 single base substitution C T synonymous_variant A166A 498C>T LAML-KR 18 12971179 12971179 single base substitution C T synonymous_variant A183A 549C>T LAML-KR 18 12971179 12971179 single base substitution C T synonymous_variant A203A 609C>T LAML-KR 18 12971179 12971179 single base substitution C T upstream_gene_variant LAML-KR 18 12979028 12979028 single base substitution T C downstream_gene_variant LAML-KR 18 12979028 12979028 single base substitution T C intron_variant LAML-KR 18 12979655 12979655 single base substitution C T downstream_gene_variant LAML-KR 18 12979655 12979655 single base substitution C T intron_variant LAML-KR 18 12984345 12984345 single base substitution T C downstream_gene_variant LAML-KR 18 12984345 12984345 single base substitution T C intron_variant LGG-US 18 12955479 12955479 single base substitution A G exon_variant LGG-US 18 12955479 12955479 single base substitution A G intron_variant LGG-US 18 12955479 12955479 single base substitution A G synonymous_variant V34V 102A>G LGG-US 18 12955479 12955479 single base substitution A G synonymous_variant V43V 129A>G LGG-US 18 12955479 12955479 single base substitution A G synonymous_variant V60V 180A>G LICA-FR 18 12967766 12967766 single base substitution A T intron_variant LICA-FR 18 12967766 12967766 single base substitution A T upstream_gene_variant LICA-FR 18 12971715 12971715 single base substitution G C downstream_gene_variant LICA-FR 18 12971715 12971715 single base substitution G C exon_variant LICA-FR 18 12971715 12971715 single base substitution G C intron_variant LICA-FR 18 12971715 12971715 single base substitution G C upstream_gene_variant LICA-FR 18 12979728 12979728 single base substitution G A downstream_gene_variant LICA-FR 18 12979728 12979728 single base substitution G A intron_variant LICA-FR 18 12987552 12987554 deletion of <=200bp TTT - downstream_gene_variant LINC-JP 18 12948380 12948380 single base substitution C G intron_variant LINC-JP 18 12948380 12948380 single base substitution C G upstream_gene_variant LINC-JP 18 12955861 12955861 single base substitution A G downstream_gene_variant LINC-JP 18 12955861 12955861 single base substitution A G intron_variant LINC-JP 18 12959527 12959527 single base substitution A G downstream_gene_variant LINC-JP 18 12959527 12959527 single base substitution A G intron_variant LINC-JP 18 12971060 12971060 single base substitution G T intron_variant LINC-JP 18 12971060 12971060 single base substitution G T upstream_gene_variant LINC-JP 18 12981849 12981849 single base substitution A T downstream_gene_variant LINC-JP 18 12981849 12981849 single base substitution A T intron_variant LINC-JP 18 12983024 12983024 single base substitution T G downstream_gene_variant LINC-JP 18 12983024 12983024 single base substitution T G exon_variant LINC-JP 18 12983024 12983024 single base substitution T G intron_variant LINC-JP 18 12988993 12988993 single base substitution A G downstream_gene_variant LIRI-JP 18 12942556 12942556 single base substitution C T upstream_gene_variant LIRI-JP 18 12943853 12943853 single base substitution C T upstream_gene_variant LIRI-JP 18 12949172 12949172 single base substitution C G intron_variant LIRI-JP 18 12950088 12950088 single base substitution A G intron_variant LIRI-JP 18 12950592 12950592 single base substitution A C intron_variant LIRI-JP 18 12951229 12951229 single base substitution G C intron_variant LIRI-JP 18 12952159 12952159 single base substitution A G intron_variant LIRI-JP 18 12952282 12952282 single base substitution A G intron_variant LIRI-JP 18 12958133 12958133 single base substitution A G downstream_gene_variant LIRI-JP 18 12958133 12958133 single base substitution A G intron_variant LIRI-JP 18 12959323 12959323 single base substitution A G downstream_gene_variant LIRI-JP 18 12959323 12959323 single base substitution A G intron_variant LIRI-JP 18 12959892 12959892 single base substitution C T downstream_gene_variant LIRI-JP 18 12959892 12959892 single base substitution C T intron_variant LIRI-JP 18 12961621 12961621 single base substitution G A intron_variant LIRI-JP 18 12961948 12961948 single base substitution A C intron_variant LIRI-JP 18 12962106 12962106 single base substitution G T intron_variant LIRI-JP 18 12963579 12963579 single base substitution T G intron_variant LIRI-JP 18 12969471 12969471 single base substitution G C intron_variant LIRI-JP 18 12969471 12969471 single base substitution G C upstream_gene_variant LIRI-JP 18 12970900 12970900 single base substitution T A intron_variant LIRI-JP 18 12970900 12970900 single base substitution T A upstream_gene_variant LIRI-JP 18 12971035 12971035 single base substitution T C intron_variant LIRI-JP 18 12971035 12971035 single base substitution T C upstream_gene_variant LIRI-JP 18 12972406 12972406 insertion of <=200bp - A downstream_gene_variant LIRI-JP 18 12972406 12972406 insertion of <=200bp - A exon_variant LIRI-JP 18 12972406 12972406 insertion of <=200bp - A intron_variant LIRI-JP 18 12972406 12972406 insertion of <=200bp - A upstream_gene_variant LIRI-JP 18 12974807 12974807 single base substitution A G downstream_gene_variant LIRI-JP 18 12974807 12974807 single base substitution A G intron_variant LIRI-JP 18 12974807 12974807 single base substitution A G upstream_gene_variant LIRI-JP 18 12975365 12975365 single base substitution C G downstream_gene_variant LIRI-JP 18 12975365 12975365 single base substitution C G intron_variant LIRI-JP 18 12975365 12975365 single base substitution C G upstream_gene_variant LIRI-JP 18 12975595 12975595 single base substitution A G downstream_gene_variant LIRI-JP 18 12975595 12975595 single base substitution A G intron_variant LIRI-JP 18 12975595 12975595 single base substitution A G upstream_gene_variant LIRI-JP 18 12975719 12975719 single base substitution A G downstream_gene_variant LIRI-JP 18 12975719 12975719 single base substitution A G intron_variant LIRI-JP 18 12975719 12975719 single base substitution A G upstream_gene_variant LIRI-JP 18 12978098 12978098 single base substitution A T exon_variant LIRI-JP 18 12978098 12978098 single base substitution A T intron_variant LIRI-JP 18 12978098 12978098 single base substitution A T upstream_gene_variant LIRI-JP 18 12978628 12978628 single base substitution G A exon_variant LIRI-JP 18 12978628 12978628 single base substitution G A intron_variant LIRI-JP 18 12978628 12978628 single base substitution G A upstream_gene_variant LIRI-JP 18 12979110 12979110 single base substitution C T downstream_gene_variant LIRI-JP 18 12979110 12979110 single base substitution C T intron_variant LIRI-JP 18 12982825 12982825 single base substitution C T downstream_gene_variant LIRI-JP 18 12982825 12982825 single base substitution C T exon_variant LIRI-JP 18 12982825 12982825 single base substitution C T intron_variant LIRI-JP 18 12983041 12983041 single base substitution A G downstream_gene_variant LIRI-JP 18 12983041 12983041 single base substitution A G exon_variant LIRI-JP 18 12983041 12983041 single base substitution A G intron_variant LIRI-JP 18 12985051 12985051 single base substitution T C downstream_gene_variant LIRI-JP 18 12985051 12985051 single base substitution T C intron_variant LIRI-JP 18 12985432 12985432 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 12985432 12985432 single base substitution A G downstream_gene_variant LIRI-JP 18 12985432 12985432 single base substitution A G exon_variant LIRI-JP 18 12985432 12985432 single base substitution A G intron_variant LIRI-JP 18 12986927 12986929 deletion of <=200bp TCC - 3_prime_UTR_variant LIRI-JP 18 12986927 12986929 deletion of <=200bp TCC - downstream_gene_variant LIRI-JP 18 12986927 12986929 deletion of <=200bp TCC - exon_variant LIRI-JP 18 12986927 12986929 deletion of <=200bp TCC - inframe_deletion LP379L LIRI-JP 18 12987377 12987377 single base substitution G A 3_prime_UTR_variant LIRI-JP 18 12987377 12987377 single base substitution G A downstream_gene_variant LIRI-JP 18 12987377 12987377 single base substitution G A exon_variant LIRI-JP 18 12987741 12987741 single base substitution A G downstream_gene_variant LIRI-JP 18 12989024 12989024 single base substitution G T downstream_gene_variant LIRI-JP 18 12989102 12989102 single base substitution A G downstream_gene_variant LIRI-JP 18 12989231 12989236 deletion of <=200bp TTCTAA - downstream_gene_variant LIRI-JP 18 12991992 12991992 single base substitution T C downstream_gene_variant LUSC-KR 18 12943973 12943973 single base substitution G T upstream_gene_variant LUSC-KR 18 12947968 12947968 single base substitution T G intron_variant LUSC-KR 18 12947968 12947968 single base substitution T G upstream_gene_variant LUSC-KR 18 12949033 12949033 single base substitution A T intron_variant LUSC-KR 18 12949770 12949770 single base substitution G T intron_variant LUSC-KR 18 12954691 12954691 single base substitution C A intron_variant LUSC-KR 18 12955189 12955189 single base substitution A G intron_variant LUSC-KR 18 12961948 12961948 single base substitution A T intron_variant LUSC-KR 18 12963551 12963551 single base substitution G T intron_variant LUSC-KR 18 12964828 12964828 single base substitution G T intron_variant LUSC-KR 18 12966151 12966151 single base substitution G T intron_variant LUSC-KR 18 12967179 12967179 single base substitution T G intron_variant LUSC-KR 18 12967179 12967179 single base substitution T G upstream_gene_variant LUSC-KR 18 12968497 12968497 single base substitution A G intron_variant LUSC-KR 18 12968497 12968497 single base substitution A G upstream_gene_variant LUSC-KR 18 12969282 12969282 single base substitution G T intron_variant LUSC-KR 18 12969282 12969282 single base substitution G T upstream_gene_variant LUSC-KR 18 12969357 12969357 single base substitution A T intron_variant LUSC-KR 18 12969357 12969357 single base substitution A T upstream_gene_variant LUSC-KR 18 12975484 12975484 single base substitution G C downstream_gene_variant LUSC-KR 18 12975484 12975484 single base substitution G C intron_variant LUSC-KR 18 12975484 12975484 single base substitution G C upstream_gene_variant LUSC-KR 18 12978645 12978645 single base substitution G C exon_variant LUSC-KR 18 12978645 12978645 single base substitution G C intron_variant LUSC-KR 18 12978645 12978645 single base substitution G C upstream_gene_variant LUSC-KR 18 12979347 12979347 single base substitution G A downstream_gene_variant LUSC-KR 18 12979347 12979347 single base substitution G A intron_variant LUSC-KR 18 12979430 12979430 single base substitution A T downstream_gene_variant LUSC-KR 18 12979430 12979430 single base substitution A T intron_variant LUSC-KR 18 12979690 12979690 single base substitution C T downstream_gene_variant LUSC-KR 18 12979690 12979690 single base substitution C T intron_variant LUSC-KR 18 12979716 12979716 single base substitution C T downstream_gene_variant LUSC-KR 18 12979716 12979716 single base substitution C T intron_variant LUSC-KR 18 12979847 12979847 single base substitution A G downstream_gene_variant LUSC-KR 18 12979847 12979847 single base substitution A G intron_variant LUSC-KR 18 12979977 12979977 single base substitution G A downstream_gene_variant LUSC-KR 18 12979977 12979977 single base substitution G A intron_variant LUSC-KR 18 12980511 12980511 single base substitution G A downstream_gene_variant LUSC-KR 18 12980511 12980511 single base substitution G A intron_variant LUSC-KR 18 12980527 12980527 single base substitution C A downstream_gene_variant LUSC-KR 18 12980527 12980527 single base substitution C A intron_variant LUSC-KR 18 12980541 12980541 single base substitution A T downstream_gene_variant LUSC-KR 18 12980541 12980541 single base substitution A T intron_variant LUSC-KR 18 12982731 12982731 single base substitution C T downstream_gene_variant LUSC-KR 18 12982731 12982731 single base substitution C T exon_variant LUSC-KR 18 12982731 12982731 single base substitution C T intron_variant LUSC-KR 18 12986440 12986440 single base substitution T C 3_prime_UTR_variant LUSC-KR 18 12986440 12986440 single base substitution T C downstream_gene_variant LUSC-KR 18 12986440 12986440 single base substitution T C exon_variant LUSC-KR 18 12986440 12986440 single base substitution T C intron_variant LUSC-KR 18 12986740 12986740 single base substitution T C 3_prime_UTR_variant LUSC-KR 18 12986740 12986740 single base substitution T C downstream_gene_variant LUSC-KR 18 12986740 12986740 single base substitution T C exon_variant LUSC-KR 18 12986740 12986740 single base substitution T C intron_variant LUSC-KR 18 12987598 12987598 single base substitution G T downstream_gene_variant LUSC-KR 18 12988265 12988265 single base substitution C G downstream_gene_variant LUSC-US 18 12982531 12982531 single base substitution C T downstream_gene_variant LUSC-US 18 12982531 12982531 single base substitution C T exon_variant LUSC-US 18 12982531 12982531 single base substitution C T missense_variant S259F 776C>T MALY-DE 18 12954102 12954102 single base substitution C T intron_variant MALY-DE 18 12964106 12964106 single base substitution C T intron_variant MALY-DE 18 12968583 12968583 single base substitution C T intron_variant MALY-DE 18 12968583 12968583 single base substitution C T upstream_gene_variant MALY-DE 18 12981608 12981608 single base substitution G A downstream_gene_variant MALY-DE 18 12981608 12981608 single base substitution G A intron_variant MALY-DE 18 12982129 12982129 single base substitution T C downstream_gene_variant MALY-DE 18 12982129 12982129 single base substitution T C intron_variant MALY-DE 18 12985299 12985299 single base substitution C T 3_prime_UTR_variant MALY-DE 18 12985299 12985299 single base substitution C T downstream_gene_variant MALY-DE 18 12985299 12985299 single base substitution C T exon_variant MALY-DE 18 12985299 12985299 single base substitution C T intron_variant MELA-AU 18 12942402 12942403 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 12942426 12942426 single base substitution G A upstream_gene_variant MELA-AU 18 12942496 12942498 deletion of <=200bp GGA - upstream_gene_variant MELA-AU 18 12942551 12942551 single base substitution G A upstream_gene_variant MELA-AU 18 12942555 12942555 single base substitution C T upstream_gene_variant MELA-AU 18 12942639 12942639 single base substitution G A upstream_gene_variant MELA-AU 18 12942935 12942935 single base substitution C T upstream_gene_variant MELA-AU 18 12943215 12943215 single base substitution G A upstream_gene_variant MELA-AU 18 12943291 12943291 single base substitution A T upstream_gene_variant MELA-AU 18 12943453 12943453 single base substitution C T upstream_gene_variant MELA-AU 18 12943713 12943713 single base substitution A T upstream_gene_variant MELA-AU 18 12943819 12943819 single base substitution C T upstream_gene_variant MELA-AU 18 12943913 12943913 single base substitution C T upstream_gene_variant MELA-AU 18 12945918 12945918 single base substitution C T upstream_gene_variant MELA-AU 18 12946010 12946014 deletion of <=200bp AGAAA - upstream_gene_variant MELA-AU 18 12946363 12946363 single base substitution G A upstream_gene_variant MELA-AU 18 12947178 12947179 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 18 12947178 12947179 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 12947388 12947388 single base substitution C T 5_prime_UTR_variant MELA-AU 18 12947388 12947388 single base substitution C T upstream_gene_variant MELA-AU 18 12947738 12947738 single base substitution C T intron_variant MELA-AU 18 12947738 12947738 single base substitution C T upstream_gene_variant MELA-AU 18 12947954 12947954 single base substitution G A intron_variant MELA-AU 18 12947954 12947954 single base substitution G A upstream_gene_variant MELA-AU 18 12950619 12950619 single base substitution C T intron_variant MELA-AU 18 12951059 12951059 single base substitution T G intron_variant MELA-AU 18 12951583 12951583 single base substitution T C intron_variant MELA-AU 18 12953349 12953349 single base substitution C T intron_variant MELA-AU 18 12954358 12954359 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 12954586 12954586 single base substitution C T intron_variant MELA-AU 18 12954805 12954805 single base substitution T C intron_variant MELA-AU 18 12955063 12955063 single base substitution C T intron_variant MELA-AU 18 12955434 12955434 single base substitution C T intron_variant MELA-AU 18 12955467 12955467 single base substitution T C exon_variant MELA-AU 18 12955467 12955467 single base substitution T C intron_variant MELA-AU 18 12955467 12955467 single base substitution T C synonymous_variant H30H 90T>C MELA-AU 18 12955467 12955467 single base substitution T C synonymous_variant H39H 117T>C MELA-AU 18 12955467 12955467 single base substitution T C synonymous_variant H56H 168T>C MELA-AU 18 12955602 12955602 single base substitution C T exon_variant MELA-AU 18 12955602 12955602 single base substitution C T intron_variant MELA-AU 18 12955602 12955602 single base substitution C T synonymous_variant S101S 303C>T MELA-AU 18 12955602 12955602 single base substitution C T synonymous_variant S75S 225C>T MELA-AU 18 12955602 12955602 single base substitution C T synonymous_variant S84S 252C>T MELA-AU 18 12956102 12956102 single base substitution G A downstream_gene_variant MELA-AU 18 12956102 12956102 single base substitution G A intron_variant MELA-AU 18 12956993 12956993 single base substitution G A downstream_gene_variant MELA-AU 18 12956993 12956993 single base substitution G A intron_variant MELA-AU 18 12957008 12957008 single base substitution A C downstream_gene_variant MELA-AU 18 12957008 12957008 single base substitution A C intron_variant MELA-AU 18 12957302 12957302 single base substitution C T downstream_gene_variant MELA-AU 18 12957302 12957302 single base substitution C T intron_variant MELA-AU 18 12957966 12957966 single base substitution C T downstream_gene_variant MELA-AU 18 12957966 12957966 single base substitution C T intron_variant MELA-AU 18 12958173 12958173 single base substitution C A downstream_gene_variant MELA-AU 18 12958173 12958173 single base substitution C A intron_variant MELA-AU 18 12958192 12958192 single base substitution C T downstream_gene_variant MELA-AU 18 12958192 12958192 single base substitution C T intron_variant MELA-AU 18 12959171 12959171 single base substitution C T downstream_gene_variant MELA-AU 18 12959171 12959171 single base substitution C T intron_variant MELA-AU 18 12959241 12959241 single base substitution C T downstream_gene_variant MELA-AU 18 12959241 12959241 single base substitution C T intron_variant MELA-AU 18 12959242 12959242 single base substitution C T downstream_gene_variant MELA-AU 18 12959242 12959242 single base substitution C T intron_variant MELA-AU 18 12959685 12959685 single base substitution C T downstream_gene_variant MELA-AU 18 12959685 12959685 single base substitution C T intron_variant MELA-AU 18 12959769 12959769 single base substitution C T downstream_gene_variant MELA-AU 18 12959769 12959769 single base substitution C T intron_variant MELA-AU 18 12960146 12960146 single base substitution C T downstream_gene_variant MELA-AU 18 12960146 12960146 single base substitution C T intron_variant MELA-AU 18 12960387 12960387 single base substitution C T downstream_gene_variant MELA-AU 18 12960387 12960387 single base substitution C T intron_variant MELA-AU 18 12961615 12961615 single base substitution A T intron_variant MELA-AU 18 12962342 12962342 single base substitution C T intron_variant MELA-AU 18 12962729 12962729 single base substitution C T intron_variant MELA-AU 18 12962928 12962928 single base substitution C T intron_variant MELA-AU 18 12963834 12963834 single base substitution C T intron_variant MELA-AU 18 12963869 12963869 single base substitution G T intron_variant MELA-AU 18 12964863 12964863 single base substitution C T intron_variant MELA-AU 18 12964976 12964976 single base substitution C T intron_variant MELA-AU 18 12966251 12966252 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 12966484 12966485 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 12966785 12966785 single base substitution C T intron_variant MELA-AU 18 12966785 12966785 single base substitution C T upstream_gene_variant MELA-AU 18 12966882 12966882 single base substitution G A intron_variant MELA-AU 18 12966882 12966882 single base substitution G A upstream_gene_variant MELA-AU 18 12967357 12967357 single base substitution C T intron_variant MELA-AU 18 12967357 12967357 single base substitution C T upstream_gene_variant MELA-AU 18 12967660 12967660 single base substitution C T intron_variant MELA-AU 18 12967660 12967660 single base substitution C T upstream_gene_variant MELA-AU 18 12968345 12968345 single base substitution C T intron_variant MELA-AU 18 12968345 12968345 single base substitution C T upstream_gene_variant MELA-AU 18 12968448 12968448 single base substitution C T intron_variant MELA-AU 18 12968448 12968448 single base substitution C T upstream_gene_variant MELA-AU 18 12968596 12968596 single base substitution C T intron_variant MELA-AU 18 12968596 12968596 single base substitution C T upstream_gene_variant MELA-AU 18 12968637 12968637 single base substitution C T intron_variant MELA-AU 18 12968637 12968637 single base substitution C T upstream_gene_variant MELA-AU 18 12969202 12969202 single base substitution C T intron_variant MELA-AU 18 12969202 12969202 single base substitution C T upstream_gene_variant MELA-AU 18 12969590 12969590 single base substitution G C intron_variant MELA-AU 18 12969590 12969590 single base substitution G C upstream_gene_variant MELA-AU 18 12969648 12969648 single base substitution C T intron_variant MELA-AU 18 12969648 12969648 single base substitution C T upstream_gene_variant MELA-AU 18 12970179 12970179 single base substitution G A intron_variant MELA-AU 18 12970179 12970179 single base substitution G A upstream_gene_variant MELA-AU 18 12970398 12970398 single base substitution C A intron_variant MELA-AU 18 12970398 12970398 single base substitution C A upstream_gene_variant MELA-AU 18 12970405 12970405 single base substitution C T intron_variant MELA-AU 18 12970405 12970405 single base substitution C T upstream_gene_variant MELA-AU 18 12970431 12970431 single base substitution T A intron_variant MELA-AU 18 12970431 12970431 single base substitution T A upstream_gene_variant MELA-AU 18 12971142 12971142 single base substitution C T intron_variant MELA-AU 18 12971142 12971142 single base substitution C T upstream_gene_variant MELA-AU 18 12971143 12971143 single base substitution C T intron_variant MELA-AU 18 12971143 12971143 single base substitution C T upstream_gene_variant MELA-AU 18 12971647 12971647 single base substitution G A downstream_gene_variant MELA-AU 18 12971647 12971647 single base substitution G A exon_variant MELA-AU 18 12971647 12971647 single base substitution G A intron_variant MELA-AU 18 12971647 12971647 single base substitution G A upstream_gene_variant MELA-AU 18 12972725 12972725 single base substitution C T downstream_gene_variant MELA-AU 18 12972725 12972725 single base substitution C T exon_variant MELA-AU 18 12972725 12972725 single base substitution C T intron_variant MELA-AU 18 12972725 12972725 single base substitution C T upstream_gene_variant MELA-AU 18 12972759 12972759 single base substitution T A downstream_gene_variant MELA-AU 18 12972759 12972759 single base substitution T A exon_variant MELA-AU 18 12972759 12972759 single base substitution T A intron_variant MELA-AU 18 12972759 12972759 single base substitution T A upstream_gene_variant MELA-AU 18 12973202 12973202 single base substitution C T downstream_gene_variant MELA-AU 18 12973202 12973202 single base substitution C T exon_variant MELA-AU 18 12973202 12973202 single base substitution C T intron_variant MELA-AU 18 12973202 12973202 single base substitution C T upstream_gene_variant MELA-AU 18 12973550 12973550 single base substitution C T downstream_gene_variant MELA-AU 18 12973550 12973550 single base substitution C T exon_variant MELA-AU 18 12973550 12973550 single base substitution C T intron_variant MELA-AU 18 12973550 12973550 single base substitution C T upstream_gene_variant MELA-AU 18 12973556 12973556 single base substitution C T downstream_gene_variant MELA-AU 18 12973556 12973556 single base substitution C T exon_variant MELA-AU 18 12973556 12973556 single base substitution C T intron_variant MELA-AU 18 12973556 12973556 single base substitution C T upstream_gene_variant MELA-AU 18 12974018 12974018 single base substitution T A downstream_gene_variant MELA-AU 18 12974018 12974018 single base substitution T A exon_variant MELA-AU 18 12974018 12974018 single base substitution T A intron_variant MELA-AU 18 12974018 12974018 single base substitution T A upstream_gene_variant MELA-AU 18 12974274 12974274 single base substitution C T downstream_gene_variant MELA-AU 18 12974274 12974274 single base substitution C T exon_variant MELA-AU 18 12974274 12974274 single base substitution C T intron_variant MELA-AU 18 12974274 12974274 single base substitution C T upstream_gene_variant MELA-AU 18 12975112 12975112 single base substitution C T downstream_gene_variant MELA-AU 18 12975112 12975112 single base substitution C T intron_variant MELA-AU 18 12975112 12975112 single base substitution C T upstream_gene_variant MELA-AU 18 12975479 12975479 single base substitution C T downstream_gene_variant MELA-AU 18 12975479 12975479 single base substitution C T intron_variant MELA-AU 18 12975479 12975479 single base substitution C T upstream_gene_variant MELA-AU 18 12976651 12976651 single base substitution G A exon_variant MELA-AU 18 12976651 12976651 single base substitution G A intron_variant MELA-AU 18 12976651 12976651 single base substitution G A upstream_gene_variant MELA-AU 18 12976759 12976759 single base substitution C T exon_variant MELA-AU 18 12976759 12976759 single base substitution C T intron_variant MELA-AU 18 12976759 12976759 single base substitution C T upstream_gene_variant MELA-AU 18 12977013 12977013 single base substitution C T exon_variant MELA-AU 18 12977013 12977013 single base substitution C T intron_variant MELA-AU 18 12977013 12977013 single base substitution C T upstream_gene_variant MELA-AU 18 12977527 12977527 single base substitution C T exon_variant MELA-AU 18 12977527 12977527 single base substitution C T intron_variant MELA-AU 18 12977527 12977527 single base substitution C T upstream_gene_variant MELA-AU 18 12978220 12978220 single base substitution G A exon_variant MELA-AU 18 12978220 12978220 single base substitution G A intron_variant MELA-AU 18 12978220 12978220 single base substitution G A upstream_gene_variant MELA-AU 18 12978338 12978338 single base substitution C T exon_variant MELA-AU 18 12978338 12978338 single base substitution C T intron_variant MELA-AU 18 12978338 12978338 single base substitution C T upstream_gene_variant MELA-AU 18 12978842 12978842 single base substitution C T exon_variant MELA-AU 18 12978842 12978842 single base substitution C T synonymous_variant L238L 712C>T MELA-AU 18 12978842 12978842 single base substitution C T synonymous_variant L258L 772C>T MELA-AU 18 12979740 12979740 single base substitution G A downstream_gene_variant MELA-AU 18 12979740 12979740 single base substitution G A intron_variant MELA-AU 18 12980258 12980258 single base substitution C T downstream_gene_variant MELA-AU 18 12980258 12980258 single base substitution C T intron_variant MELA-AU 18 12980262 12980262 single base substitution C T downstream_gene_variant MELA-AU 18 12980262 12980262 single base substitution C T intron_variant MELA-AU 18 12980340 12980340 single base substitution C T downstream_gene_variant MELA-AU 18 12980340 12980340 single base substitution C T intron_variant MELA-AU 18 12980886 12980886 single base substitution C T downstream_gene_variant MELA-AU 18 12980886 12980886 single base substitution C T intron_variant MELA-AU 18 12981151 12981151 single base substitution C T downstream_gene_variant MELA-AU 18 12981151 12981151 single base substitution C T intron_variant MELA-AU 18 12983037 12983037 single base substitution C T downstream_gene_variant MELA-AU 18 12983037 12983037 single base substitution C T exon_variant MELA-AU 18 12983037 12983037 single base substitution C T intron_variant MELA-AU 18 12983053 12983053 single base substitution C T downstream_gene_variant MELA-AU 18 12983053 12983053 single base substitution C T exon_variant MELA-AU 18 12983053 12983053 single base substitution C T intron_variant MELA-AU 18 12983791 12983791 single base substitution C T downstream_gene_variant MELA-AU 18 12983791 12983791 single base substitution C T intron_variant MELA-AU 18 12984252 12984252 deletion of <=200bp T - downstream_gene_variant MELA-AU 18 12984252 12984252 deletion of <=200bp T - intron_variant MELA-AU 18 12985145 12985145 single base substitution A T downstream_gene_variant MELA-AU 18 12985145 12985145 single base substitution A T intron_variant MELA-AU 18 12985330 12985330 single base substitution C T 3_prime_UTR_variant MELA-AU 18 12985330 12985330 single base substitution C T downstream_gene_variant MELA-AU 18 12985330 12985330 single base substitution C T exon_variant MELA-AU 18 12985330 12985330 single base substitution C T intron_variant MELA-AU 18 12985788 12985788 single base substitution C T 3_prime_UTR_variant MELA-AU 18 12985788 12985788 single base substitution C T downstream_gene_variant MELA-AU 18 12985788 12985788 single base substitution C T exon_variant MELA-AU 18 12985788 12985788 single base substitution C T intron_variant MELA-AU 18 12986153 12986153 single base substitution C T 3_prime_UTR_variant MELA-AU 18 12986153 12986153 single base substitution C T downstream_gene_variant MELA-AU 18 12986153 12986153 single base substitution C T exon_variant MELA-AU 18 12986153 12986153 single base substitution C T intron_variant MELA-AU 18 12986173 12986173 single base substitution G C 3_prime_UTR_variant MELA-AU 18 12986173 12986173 single base substitution G C downstream_gene_variant MELA-AU 18 12986173 12986173 single base substitution G C exon_variant MELA-AU 18 12986173 12986173 single base substitution G C intron_variant MELA-AU 18 12986370 12986370 single base substitution C T 3_prime_UTR_variant MELA-AU 18 12986370 12986370 single base substitution C T downstream_gene_variant MELA-AU 18 12986370 12986370 single base substitution C T exon_variant MELA-AU 18 12986370 12986370 single base substitution C T intron_variant MELA-AU 18 12987126 12987126 single base substitution T C 3_prime_UTR_variant MELA-AU 18 12987126 12987126 single base substitution T C downstream_gene_variant MELA-AU 18 12987126 12987126 single base substitution T C exon_variant MELA-AU 18 12987188 12987188 single base substitution G A 3_prime_UTR_variant MELA-AU 18 12987188 12987188 single base substitution G A downstream_gene_variant MELA-AU 18 12987188 12987188 single base substitution G A exon_variant MELA-AU 18 12988233 12988233 single base substitution C T downstream_gene_variant MELA-AU 18 12988307 12988307 single base substitution C T downstream_gene_variant MELA-AU 18 12989565 12989565 single base substitution C T downstream_gene_variant MELA-AU 18 12990527 12990527 single base substitution C T downstream_gene_variant MELA-AU 18 12991228 12991228 single base substitution C T downstream_gene_variant MELA-AU 18 12991961 12991961 single base substitution C T downstream_gene_variant MELA-AU 18 12992048 12992048 single base substitution A T downstream_gene_variant MELA-AU 18 12992402 12992402 single base substitution T C downstream_gene_variant OV-AU 18 12943643 12943643 single base substitution G A upstream_gene_variant OV-AU 18 12945276 12945276 single base substitution T C upstream_gene_variant OV-AU 18 12949245 12949245 single base substitution G A intron_variant OV-AU 18 12967319 12967319 single base substitution C G intron_variant OV-AU 18 12967319 12967319 single base substitution C G upstream_gene_variant OV-AU 18 12968891 12968891 single base substitution C T intron_variant OV-AU 18 12968891 12968891 single base substitution C T upstream_gene_variant OV-AU 18 12970872 12970872 single base substitution G A intron_variant OV-AU 18 12970872 12970872 single base substitution G A upstream_gene_variant OV-AU 18 12975967 12975967 single base substitution A G downstream_gene_variant OV-AU 18 12975967 12975967 single base substitution A G intron_variant OV-AU 18 12975967 12975967 single base substitution A G upstream_gene_variant OV-AU 18 12979863 12979863 single base substitution G A downstream_gene_variant OV-AU 18 12979863 12979863 single base substitution G A intron_variant OV-AU 18 12980315 12980315 single base substitution G T downstream_gene_variant OV-AU 18 12980315 12980315 single base substitution G T intron_variant OV-AU 18 12983032 12983032 single base substitution C G downstream_gene_variant OV-AU 18 12983032 12983032 single base substitution C G exon_variant OV-AU 18 12983032 12983032 single base substitution C G intron_variant OV-AU 18 12987494 12987494 single base substitution T G 3_prime_UTR_variant OV-AU 18 12987494 12987494 single base substitution T G downstream_gene_variant OV-AU 18 12987494 12987494 single base substitution T G exon_variant PACA-AU 18 12943409 12943409 single base substitution G A upstream_gene_variant PACA-AU 18 12948659 12948660 deletion of <=200bp TC - exon_variant PACA-AU 18 12948659 12948660 deletion of <=200bp TC - intron_variant PACA-AU 18 12952305 12952305 single base substitution C T intron_variant PACA-AU 18 12954300 12954300 single base substitution C T intron_variant PACA-AU 18 12956357 12956357 single base substitution C A downstream_gene_variant PACA-AU 18 12956357 12956357 single base substitution C A intron_variant PACA-AU 18 12959196 12959196 single base substitution T G downstream_gene_variant PACA-AU 18 12959196 12959196 single base substitution T G intron_variant PACA-AU 18 12962131 12962131 single base substitution A T intron_variant PACA-AU 18 12963890 12963890 single base substitution T G intron_variant PACA-AU 18 12967688 12967688 single base substitution G A intron_variant PACA-AU 18 12967688 12967688 single base substitution G A upstream_gene_variant PACA-AU 18 12968174 12968174 single base substitution G A intron_variant PACA-AU 18 12968174 12968174 single base substitution G A upstream_gene_variant PACA-AU 18 12968589 12968589 single base substitution C A intron_variant PACA-AU 18 12968589 12968589 single base substitution C A upstream_gene_variant PACA-AU 18 12977411 12977411 single base substitution G A exon_variant PACA-AU 18 12977411 12977411 single base substitution G A intron_variant PACA-AU 18 12977411 12977411 single base substitution G A upstream_gene_variant PACA-AU 18 12985193 12985193 single base substitution C G downstream_gene_variant PACA-AU 18 12985193 12985193 single base substitution C G intron_variant PACA-AU 18 12987061 12987061 single base substitution C A 3_prime_UTR_variant PACA-AU 18 12987061 12987061 single base substitution C A downstream_gene_variant PACA-AU 18 12987061 12987061 single base substitution C A exon_variant PACA-AU 18 12990568 12990568 single base substitution C T downstream_gene_variant PACA-AU 18 12990635 12990635 single base substitution C T downstream_gene_variant PACA-AU 18 12991715 12991715 single base substitution G C downstream_gene_variant PACA-CA 18 12947129 12947129 single base substitution T G upstream_gene_variant PACA-CA 18 12948054 12948054 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 18 12948054 12948054 single base substitution C T intron_variant PACA-CA 18 12948054 12948054 single base substitution C T upstream_gene_variant PACA-CA 18 12954216 12954216 single base substitution T A intron_variant PACA-CA 18 12954530 12954530 single base substitution A G intron_variant PACA-CA 18 12968476 12968476 insertion of <=200bp - T intron_variant PACA-CA 18 12968476 12968476 insertion of <=200bp - T upstream_gene_variant PACA-CA 18 12968601 12968601 single base substitution G T intron_variant PACA-CA 18 12968601 12968601 single base substitution G T upstream_gene_variant PACA-CA 18 12969021 12969021 single base substitution C T intron_variant PACA-CA 18 12969021 12969021 single base substitution C T upstream_gene_variant PACA-CA 18 12976808 12976808 insertion of <=200bp - A exon_variant PACA-CA 18 12976808 12976808 insertion of <=200bp - A intron_variant PACA-CA 18 12976808 12976808 insertion of <=200bp - A upstream_gene_variant PACA-CA 18 12979822 12979822 single base substitution G A downstream_gene_variant PACA-CA 18 12979822 12979822 single base substitution G A intron_variant PACA-CA 18 12982450 12982450 single base substitution G A downstream_gene_variant PACA-CA 18 12982450 12982450 single base substitution G A intron_variant PACA-CA 18 12983714 12983714 single base substitution A C downstream_gene_variant PACA-CA 18 12983714 12983714 single base substitution A C intron_variant PACA-CA 18 12984226 12984226 single base substitution G T downstream_gene_variant PACA-CA 18 12984226 12984226 single base substitution G T intron_variant PACA-CA 18 12986926 12986926 insertion of <=200bp - TCC 3_prime_UTR_variant PACA-CA 18 12986926 12986926 insertion of <=200bp - TCC disruptive_inframe_insertion L379LL PACA-CA 18 12986926 12986926 insertion of <=200bp - TCC downstream_gene_variant PACA-CA 18 12986926 12986926 insertion of <=200bp - TCC exon_variant PACA-CA 18 12987019 12987019 single base substitution G A 3_prime_UTR_variant PACA-CA 18 12987019 12987019 single base substitution G A downstream_gene_variant PACA-CA 18 12987019 12987019 single base substitution G A exon_variant PACA-CA 18 12987019 12987019 single base substitution G A missense_variant R410Q 1229G>A PBCA-DE 18 12943182 12943182 single base substitution G A upstream_gene_variant PBCA-DE 18 12960569 12960569 single base substitution G A downstream_gene_variant PBCA-DE 18 12960569 12960569 single base substitution G A intron_variant PBCA-DE 18 12969392 12969392 deletion of <=200bp A - intron_variant PBCA-DE 18 12969392 12969392 deletion of <=200bp A - upstream_gene_variant PBCA-DE 18 12980826 12980826 insertion of <=200bp - A downstream_gene_variant PBCA-DE 18 12980826 12980826 insertion of <=200bp - A intron_variant PBCA-DE 18 12980874 12980874 deletion of <=200bp C - downstream_gene_variant PBCA-DE 18 12980874 12980874 deletion of <=200bp C - intron_variant PBCA-DE 18 12985921 12985921 single base substitution G T 3_prime_UTR_variant PBCA-DE 18 12985921 12985921 single base substitution G T downstream_gene_variant PBCA-DE 18 12985921 12985921 single base substitution G T exon_variant PBCA-DE 18 12985921 12985921 single base substitution G T intron_variant PBCA-DE 18 12991250 12991250 single base substitution C A downstream_gene_variant PBCA-DE 18 12991616 12991616 single base substitution C G downstream_gene_variant PRAD-CA 18 12947823 12947823 single base substitution C A intron_variant PRAD-CA 18 12947823 12947823 single base substitution C A upstream_gene_variant PRAD-CA 18 12955467 12955467 single base substitution T C exon_variant PRAD-CA 18 12955467 12955467 single base substitution T C intron_variant PRAD-CA 18 12955467 12955467 single base substitution T C synonymous_variant H30H 90T>C PRAD-CA 18 12955467 12955467 single base substitution T C synonymous_variant H39H 117T>C PRAD-CA 18 12955467 12955467 single base substitution T C synonymous_variant H56H 168T>C PRAD-CA 18 12979977 12979977 single base substitution G A downstream_gene_variant PRAD-CA 18 12979977 12979977 single base substitution G A intron_variant PRAD-UK 18 12945740 12945744 deletion of <=200bp AAAAC - upstream_gene_variant PRAD-UK 18 12970429 12970429 insertion of <=200bp - T intron_variant PRAD-UK 18 12970429 12970429 insertion of <=200bp - T upstream_gene_variant PRAD-UK 18 12971967 12971967 single base substitution T G downstream_gene_variant PRAD-UK 18 12971967 12971967 single base substitution T G exon_variant PRAD-UK 18 12971967 12971967 single base substitution T G intron_variant PRAD-UK 18 12971967 12971967 single base substitution T G upstream_gene_variant PRAD-UK 18 12972046 12972046 single base substitution G A downstream_gene_variant PRAD-UK 18 12972046 12972046 single base substitution G A exon_variant PRAD-UK 18 12972046 12972046 single base substitution G A intron_variant PRAD-UK 18 12972046 12972046 single base substitution G A upstream_gene_variant PRAD-UK 18 12972754 12972754 single base substitution G C downstream_gene_variant PRAD-UK 18 12972754 12972754 single base substitution G C exon_variant PRAD-UK 18 12972754 12972754 single base substitution G C intron_variant PRAD-UK 18 12972754 12972754 single base substitution G C upstream_gene_variant PRAD-UK 18 12980241 12980241 single base substitution G A downstream_gene_variant PRAD-UK 18 12980241 12980241 single base substitution G A intron_variant PRAD-UK 18 12980253 12980253 single base substitution C A downstream_gene_variant PRAD-UK 18 12980253 12980253 single base substitution C A intron_variant PRAD-UK 18 12990284 12990287 deletion of <=200bp TCAC - downstream_gene_variant RECA-EU 18 12943955 12943955 single base substitution T G upstream_gene_variant RECA-EU 18 12954672 12954672 single base substitution G T intron_variant RECA-EU 18 12966300 12966300 single base substitution A T intron_variant RECA-EU 18 12974931 12974931 single base substitution G C downstream_gene_variant RECA-EU 18 12974931 12974931 single base substitution G C intron_variant RECA-EU 18 12974931 12974931 single base substitution G C upstream_gene_variant RECA-EU 18 12988698 12988698 single base substitution A C downstream_gene_variant SKCA-BR 18 12942274 12942274 single base substitution G A upstream_gene_variant SKCA-BR 18 12942866 12942866 single base substitution C T upstream_gene_variant SKCA-BR 18 12943745 12943745 single base substitution C T upstream_gene_variant SKCA-BR 18 12945180 12945180 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 18 12946616 12946616 single base substitution T A upstream_gene_variant SKCA-BR 18 12946730 12946730 single base substitution T A upstream_gene_variant SKCA-BR 18 12952305 12952305 single base substitution C T intron_variant SKCA-BR 18 12952763 12952763 single base substitution A C intron_variant SKCA-BR 18 12956453 12956454 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 18 12956453 12956454 deletion of <=200bp CA - intron_variant SKCA-BR 18 12959115 12959115 single base substitution T C downstream_gene_variant SKCA-BR 18 12959115 12959115 single base substitution T C intron_variant SKCA-BR 18 12959385 12959385 single base substitution T C downstream_gene_variant SKCA-BR 18 12959385 12959385 single base substitution T C intron_variant SKCA-BR 18 12960035 12960035 single base substitution T G downstream_gene_variant SKCA-BR 18 12960035 12960035 single base substitution T G intron_variant SKCA-BR 18 12964029 12964029 single base substitution C T intron_variant SKCA-BR 18 12965306 12965306 single base substitution C T intron_variant SKCA-BR 18 12967579 12967579 single base substitution A T intron_variant SKCA-BR 18 12967579 12967579 single base substitution A T upstream_gene_variant SKCA-BR 18 12975101 12975101 single base substitution C T downstream_gene_variant SKCA-BR 18 12975101 12975101 single base substitution C T intron_variant SKCA-BR 18 12975101 12975101 single base substitution C T upstream_gene_variant SKCA-BR 18 12979331 12979331 single base substitution C T downstream_gene_variant SKCA-BR 18 12979331 12979331 single base substitution C T intron_variant SKCA-BR 18 12980169 12980169 single base substitution A G downstream_gene_variant SKCA-BR 18 12980169 12980169 single base substitution A G intron_variant SKCA-BR 18 12980269 12980269 single base substitution G A downstream_gene_variant SKCA-BR 18 12980269 12980269 single base substitution G A intron_variant SKCA-BR 18 12980627 12980627 single base substitution C T downstream_gene_variant SKCA-BR 18 12980627 12980627 single base substitution C T intron_variant SKCA-BR 18 12980840 12980840 single base substitution T C downstream_gene_variant SKCA-BR 18 12980840 12980840 single base substitution T C intron_variant SKCA-BR 18 12986802 12986802 insertion of <=200bp - GTT 3_prime_UTR_variant SKCA-BR 18 12986802 12986802 insertion of <=200bp - GTT downstream_gene_variant SKCA-BR 18 12986802 12986802 insertion of <=200bp - GTT exon_variant SKCA-BR 18 12986802 12986802 insertion of <=200bp - GTT intron_variant SKCA-BR 18 12991178 12991178 single base substitution G A downstream_gene_variant SKCM-US 18 12963211 12963211 single base substitution T C exon_variant SKCM-US 18 12963211 12963211 single base substitution T C missense_variant F104S 311T>C SKCM-US 18 12963211 12963211 single base substitution T C missense_variant F121S 362T>C SKCM-US 18 12963211 12963211 single base substitution T C missense_variant F72S 215T>C SKCM-US 18 12982560 12982560 single base substitution C T downstream_gene_variant SKCM-US 18 12982560 12982560 single base substitution C T exon_variant SKCM-US 18 12982560 12982560 single base substitution C T missense_variant H269Y 805C>T SKCM-US 18 12984110 12984110 single base substitution C T downstream_gene_variant SKCM-US 18 12984110 12984110 single base substitution C T exon_variant SKCM-US 18 12984110 12984110 single base substitution C T stop_gained Q331* 991C>T SKCM-US 18 12984128 12984128 single base substitution C T downstream_gene_variant SKCM-US 18 12984128 12984128 single base substitution C T exon_variant SKCM-US 18 12984128 12984128 single base substitution C T missense_variant P337S 1009C>T STAD-US 18 12951893 12951893 single base substitution G A exon_variant STAD-US 18 12951893 12951893 single base substitution G A intron_variant STAD-US 18 12951893 12951893 single base substitution G A missense_variant A25T 73G>A STAD-US 18 12951893 12951893 single base substitution G A missense_variant A51T 151G>A STAD-US 18 12955468 12955468 single base substitution A G exon_variant STAD-US 18 12955468 12955468 single base substitution A G intron_variant STAD-US 18 12955468 12955468 single base substitution A G missense_variant S31G 91A>G STAD-US 18 12955468 12955468 single base substitution A G missense_variant S40G 118A>G STAD-US 18 12955468 12955468 single base substitution A G missense_variant S57G 169A>G STAD-US 18 12955495 12955495 single base substitution G A exon_variant STAD-US 18 12955495 12955495 single base substitution G A intron_variant STAD-US 18 12955495 12955495 single base substitution G A missense_variant A40T 118G>A STAD-US 18 12955495 12955495 single base substitution G A missense_variant A49T 145G>A STAD-US 18 12955495 12955495 single base substitution G A missense_variant A66T 196G>A STAD-US 18 12982630 12982630 single base substitution T C downstream_gene_variant STAD-US 18 12982630 12982630 single base substitution T C exon_variant STAD-US 18 12982630 12982630 single base substitution T C missense_variant V292A 875T>C UCEC-US 18 12955522 12955522 single base substitution G A exon_variant UCEC-US 18 12955522 12955522 single base substitution G A intron_variant UCEC-US 18 12955522 12955522 single base substitution G A missense_variant A49T 145G>A UCEC-US 18 12955522 12955522 single base substitution G A missense_variant A58T 172G>A UCEC-US 18 12955522 12955522 single base substitution G A missense_variant A75T 223G>A UCEC-US 18 12984126 12984126 single base substitution A C downstream_gene_variant UCEC-US 18 12984126 12984126 single base substitution A C exon_variant UCEC-US 18 12984126 12984126 single base substitution A C missense_variant N336T 1007A>C UCEC-US 18 12984160 12984160 single base substitution G A downstream_gene_variant UCEC-US 18 12984160 12984160 single base substitution G A exon_variant UCEC-US 18 12984160 12984160 single base substitution G A synonymous_variant Q347Q 1041G>A UCEC-US 18 12986926 12986926 insertion of <=200bp - TCC 3_prime_UTR_variant UCEC-US 18 12986926 12986926 insertion of <=200bp - TCC disruptive_inframe_insertion L379LL UCEC-US 18 12986926 12986926 insertion of <=200bp - TCC downstream_gene_variant UCEC-US 18 12986926 12986926 insertion of <=200bp - TCC exon_variant UCEC-US 18 12986964 12986964 single base substitution G A 3_prime_UTR_variant UCEC-US 18 12986964 12986964 single base substitution G A downstream_gene_variant UCEC-US 18 12986964 12986964 single base substitution G A exon_variant UCEC-US 18 12986964 12986964 single base substitution G A missense_variant D392N 1174G>A UCEC-US 18 12987007 12987007 single base substitution G T 3_prime_UTR_variant UCEC-US 18 12987007 12987007 single base substitution G T downstream_gene_variant UCEC-US 18 12987007 12987007 single base substitution G T exon_variant UCEC-US 18 12987007 12987007 single base substitution G T missense_variant R406L 1217G>T UCEC-US 18 12987041 12987041 single base substitution G T 3_prime_UTR_variant UCEC-US 18 12987041 12987041 single base substitution G T downstream_gene_variant UCEC-US 18 12987041 12987041 single base substitution G T exon_variant UCEC-US 18 12987041 12987041 single base substitution G T missense_variant E417D 1251G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A6-2684-01 COSM5081713 c.1137_1139delTCC p.P385delP Deletion - In frame 18:12986928-12986930 + S00472 COSM315055 c.318G>A p.R106R Substitution - coding silent 18:12963168-12963168 + 034T COSM1728550 c.550G>A p.V184I Substitution - Missense 18:12971181-12971181 + TCGA-AX-A0J0-01 COSM986678 c.1041G>A p.Q347Q Substitution - coding silent 18:12984161-12984161 + 587338 COSM1225106 c.434C>A p.P145Q Substitution - Missense 18:12963284-12963284 + TCGA-AC-A3OD-01 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + ICGC_MB24 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + PD5930a COSM5795836 c.1220A>G p.Y407C Substitution - Missense 18:12987011-12987011 + TCGA-EE-A2MR-06 COSM3524263 c.991C>T p.Q331* Substitution - Nonsense 18:12984111-12984111 + TCGA-FG-7634-01 COSM3970479 c.180A>G p.V60V Substitution - coding silent 18:12955480-12955480 + LUAD_E00565 COSM389231 c.10G>A p.A4T Substitution - Missense 18:12948131-12948131 + LC_C9 COSM1189645 c.868G>A p.G290R Substitution - Missense 18:12982624-12982624 + TCGA-FW-A3R5-06 COSM3524262 c.805C>T p.H269Y Substitution - Missense 18:12982561-12982561 + ESCC_4 COSM5622819 c.506C>G p.S169C Substitution - Missense 18:12963356-12963356 + XHDG21 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + TCGA-CH-5794-01 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + TCGA-BR-4184-01 COSM4071346 c.196G>A p.A66T Substitution - Missense 18:12955496-12955496 + XHDG17 COSM4768712 c.817C>T p.Q273* Substitution - Nonsense 18:12982573-12982573 + ccRCC-90 COSM1664083 c.232T>A p.S78T Substitution - Missense 18:12955532-12955532 + SCC-15 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + UM-SCC-2 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + TCGA-B5-A11H-01 COSM986679 c.1136_1137insTCC p.P385_L386insP Insertion - In frame 18:12986927-12986928 + TCGA-AC-A23H-01 COSM3821177 c.594G>C p.Q198H Substitution - Missense 18:12971225-12971225 + S00472 COSM315055 c.318G>A p.R106R Substitution - coding silent 18:12963168-12963168 + TCGA-BS-A0UF-01 COSM986681 c.1217G>T p.R406L Substitution - Missense 18:12987008-12987008 + CAL33 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + UM-SCC-4 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + BD6T COSM5081713 c.1137_1139delTCC p.P385delP Deletion - In frame 18:12986928-12986930 + SW480 COSM437921 c.527G>A p.R176H Substitution - Missense 18:12971158-12971158 + YUDAB COSM1710998 c.1240C>T p.P414S Substitution - Missense 18:12987031-12987031 + ESCC_133 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + DLD1 COSM1680245 c.185G>A p.R62H Substitution - Missense 18:12955485-12955485 + LUAD-B01811 COSM334078 c.1017A>G p.L339L Substitution - coding silent 18:12984137-12984137 + ESCC_143 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + 587376 COSM1225107 c.1217G>A p.R406Q Substitution - Missense 18:12987008-12987008 + CN-AML-NR-08-Dx COSM4415234 c.549C>T p.A183A Substitution - coding silent 18:12971180-12971180 + TCGA-EE-A3JD-06 COSM4397541 c.362T>C p.F121S Substitution - Missense 18:12963212-12963212 + TCGA-EE-A2GL-06 COSM3524264 c.1009C>T p.P337S Substitution - Missense 18:12984129-12984129 + UD-SCC-2 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + TCGA-CG-5721-01 COSM4071347 c.875T>C p.V292A Substitution - Missense 18:12982631-12982631 + ESCC_96 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + BICR_22 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + PCSI0019 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + TCGA-CJ-4893-01 COSM3362462 c.490A>C p.S164R Substitution - Missense 18:12963340-12963340 + HCT-15 COSM1680245 c.185G>A p.R62H Substitution - Missense 18:12955485-12955485 + CPCG0006-F1 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + CSCC-47-T COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + SCC-9 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + SW620 COSM437921 c.527G>A p.R176H Substitution - Missense 18:12971158-12971158 + LUAD-RT-S01777 COSM382036 c.355G>A p.V119M Substitution - Missense 18:12963205-12963205 + C008 COSM5250637 c.1014C>T p.S338S Substitution - coding silent 18:12984134-12984134 + TCGA-AX-A05Z-01 COSM986682 c.1251G>T p.E417D Substitution - Missense 18:12987042-12987042 + Capan-1 COSM328426 c.136G>A p.D46N Substitution - Missense 18:12951879-12951879 + TCGA-A8-A09Z-01 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + CN-AML-08-T COSM4415234 c.549C>T p.A183A Substitution - coding silent 18:12971180-12971180 + PT46 COSM5929832 c.621-6C>T p.? Unknown 18:12978746-12978746 + HCT8 COSM1680245 c.185G>A p.R62H Substitution - Missense 18:12955485-12955485 + TCGA-BR-8081-01 COSM4071344 c.151G>A p.A51T Substitution - Missense 18:12951894-12951894 + WSU-HN8 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + ccRCC-19 COSM1664084 c.313A>G p.K105E Substitution - Missense 18:12963163-12963163 + T3101 COSM4724625 c.872C>T p.T291M Substitution - Missense 18:12982628-12982628 + WSU-HN6 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + BHY COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + HT115 COSM2883885 c.839A>G p.Q280R Substitution - Missense 18:12982595-12982595 + TCGA-D1-A163-01 COSM986676 c.223G>A p.A75T Substitution - Missense 18:12955523-12955523 + SCC-25 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + HCT15 COSM1680245 c.185G>A p.R62H Substitution - Missense 18:12955485-12955485 + EOPC-053_tumor_01 COSM5951000 c.915G>A p.W305* Substitution - Nonsense 18:12982671-12982671 + LUAD-S01357 COSM386865 c.307T>G p.W103G Substitution - Missense 18:12955607-12955607 + TCGA-A2-A4S1-01 COSM3821178 c.1036C>T p.L346F Substitution - Missense 18:12984156-12984156 + NB-0445 COSM1287809 c.656C>T p.T219I Substitution - Missense 18:12978787-12978787 + 93VU147T COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + WSU-HN30 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + PTC-14C COSM4130919 c.478T>G p.S160A Substitution - Missense 18:12963328-12963328 + UM-SCC-47 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + sysucc-880T COSM5462749 c.682G>A p.A228T Substitution - Missense 18:12978813-12978813 + TCGA-D3-A1Q6-06 COSM3524262 c.805C>T p.H269Y Substitution - Missense 18:12982561-12982561 + TCGA-A2-A4S1-01 COSM3821179 c.1061C>T p.S354F Substitution - Missense 18:12984181-12984181 + SW620 COSM437921 c.527G>A p.R176H Substitution - Missense 18:12971158-12971158 + TCGA-A6-6141-01 COSM5090983 c.822C>T p.F274F Substitution - coding silent 18:12982578-12982578 + TCGA-AG-A008-01 COSM5071606 c.1070+7T>A p.? Unknown 18:12984197-12984197 + WT039 COSM5352058 c.1212C>A p.R404R Substitution - coding silent 18:12987003-12987003 + WSU-HN13 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + TCGA-AA-A010-01 COSM284870 c.1110G>A p.S370S Substitution - coding silent 18:12986901-12986901 + C008 COSM5523774 c.1013C>T p.S338F Substitution - Missense 18:12984133-12984133 + WSU-HN12 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + TCGA-G2-A3VY-01 COSM3796294 c.21C>T p.I7I Substitution - coding silent 18:12948142-12948142 + TCGA-18-3409-01 COSM708415 c.776C>T p.S259F Substitution - Missense 18:12982532-12982532 + ORL-48 COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + TCGA-A6-2672-01 COSM5081713 c.1137_1139delTCC p.P385delP Deletion - In frame 18:12986928-12986930 + TCGA-BR-4280-01 COSM4071345 c.169A>G p.S57G Substitution - Missense 18:12955469-12955469 + TCGA-B5-A0JY-01 COSM986677 c.1007A>C p.N336T Substitution - Missense 18:12984127-12984127 + TCGA-AG-3892-01 COSM257974 c.957G>T p.L319F Substitution - Missense 18:12984077-12984077 + TCGA-B6-A0X0-01 COSM437921 c.527G>A p.R176H Substitution - Missense 18:12971158-12971158 + TCGA-AX-A05Z-01 COSM986680 c.1174G>A p.D392N Substitution - Missense 18:12986965-12986965 + PT13 COSM5896355 c.382C>T p.L128F Substitution - Missense 18:12963232-12963232 + 03-P1004 COSM4580320 c.254T>C p.V85A Substitution - Missense 18:12955554-12955554 + NOKSI COSM4591152 c.14G>C p.R5P Substitution - Missense 18:12948135-12948135 + CSCC-30-T COSM4561093 c.869G>A p.G290E Substitution - Missense 18:12982625-12982625 + 259 COSM307119 c.168T>C p.H56H Substitution - coding silent 18:12955468-12955468 + 1848_T COSM3959024 c.600T>C p.F200F Substitution - coding silent 18:12971231-12971231 + SNUH_G73_S1 COSM4415234 c.549C>T p.A183A Substitution - coding silent 18:12971180-12971180 + TCGA-AA-A02R-01 COSM5126931 c.514C>T p.P172S Substitution - Missense 18:12963364-12963364 + PTC-14C COSM4130920 c.479C>G p.S160* Substitution - Nonsense 18:12963329-12963329 + PTC-14C COSM4130921 c.481T>A p.C161S Substitution - Missense 18:12963331-12963331 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.301048 18p11.21 609263

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S164R c.490A>C 18 12963339 RCCC A G Missense p.S57G c.169A>G 18 12955468 STAD A G Synonymous p.L415L c.1245A>G 18 12987035 BRCA C G Nonsense p.S173* c.518C>G 18 12963367 CM C T Missense p.H269Y c.805C>T 18 12982560 CM C T Missense p.P337S c.1009C>T 18 12984128 CM C T Missense p.T219I c.656C>T 18 12978786 NB G A Missense p.A75T c.223G>A 18 12955522 UCEC G A Missense p.R176H c.527G>A 18 12971157 BRCA G A Missense p.R62H c.185G>A 18 12955484 CM G A Synonymous p.R106R c.318G>A 18 12963167 SCLC G T Missense p.W103C c.309G>T 18 12955608 LUAD - TCC InFrameInsertion p.L379_P380insS c.1137_1138insTCC 18 12986927 UCEC T C Missense p.F121S c.362T>C 18 12963211 CM