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 15 80414101 80414101 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr15:80414101G>A c.202G>A c.(202-204)Gat>Aat p.D68N BLCA 15 80414150 80414150 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr15:80414150C>T c.251C>T c.(250-252)tCt>tTt p.S84F BLCA 15 80423554 80423554 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr15:80423554G>A c.397G>A c.(397-399)Gaa>Aaa p.E133K BLCA 15 80429905 80429905 + Missense_Mutation SNP G G A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr15:80429905G>A c.562G>A c.(562-564)Gat>Aat p.D188N CHOL 15 80429825 80429825 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr15:80429825T>G c.482T>G c.(481-483)tTt>tGt p.F161C COAD 15 80423544 80423544 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr15:80423544G>A c.387G>A c.(385-387)caG>caA p.Q129Q COAD 15 80423583 80423583 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr15:80423583G>A c.426G>A c.(424-426)ccG>ccA p.P142P COADREAD 15 80423544 80423544 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr15:80423544G>A c.387G>A c.(385-387)caG>caA p.Q129Q COADREAD 15 80423583 80423583 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr15:80423583G>A c.426G>A c.(424-426)ccG>ccA p.P142P ESCA 15 80412728 80412728 + Frame_Shift_Del DEL T T - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr15:80412728delT c.42delT c.(40-42)tgtfs p.C14fs GBMLGG 15 80423623 80423623 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:80423623G>A c.466G>A c.(466-468)Gtg>Atg p.V156M HNSC 15 80412738 80412738 + Missense_Mutation SNP T T G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 g.chr15:80412738T>G c.52T>G c.(52-54)Tgt>Ggt p.C18G HNSC 15 80415055 80415055 + Missense_Mutation SNP C C G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr15:80415055C>G c.277C>G c.(277-279)Cag>Gag p.Q93E HNSC 15 80423525 80423525 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr15:80423525C>T c.368C>T c.(367-369)tCa>tTa p.S123L HNSC 15 80429936 80429936 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr15:80429936C>T c.593C>T c.(592-594)cCa>cTa p.P198L LGG 15 80423623 80423623 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:80423623G>A c.466G>A c.(466-468)Gtg>Atg p.V156M LUAD 15 80415143 80415143 + Splice_Site SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr15:80415143G>A c.e5+1 LUAD 15 80423536 80423536 + Missense_Mutation SNP A A G TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr15:80423536A>G c.379A>G c.(379-381)Aca>Gca p.T127A LUSC 15 80415061 80415061 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr15:80415061C>T c.283C>T c.(283-285)Ctt>Ttt p.L95F LUSC 15 80423536 80423536 + Missense_Mutation SNP A A G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr15:80423536A>G c.379A>G c.(379-381)Aca>Gca p.T127A LUSC 15 80423618 80423618 + Missense_Mutation SNP A A G TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr15:80423618A>G c.461A>G c.(460-462)aAg>aGg p.K154R SKCM 15 80414107 80414107 + Missense_Mutation SNP A A G TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr15:80414107A>G c.208A>G c.(208-210)Agt>Ggt p.S70G SKCM 15 80429862 80429862 + Silent SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr15:80429862C>T c.519C>T c.(517-519)caC>caT p.H173H SKCM 15 80429888 80429888 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr15:80429888C>T c.545C>T c.(544-546)tCt>tTt p.S182F SKCM 15 80429958 80429958 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr15:80429958C>T c.615C>T c.(613-615)atC>atT p.I205I

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 15 80423554 80423554 single base substitution G A exon_variant BLCA-US 15 80423554 80423554 single base substitution G A intron_variant BLCA-US 15 80423554 80423554 single base substitution G A missense_variant E121K 361G>A BLCA-US 15 80423554 80423554 single base substitution G A missense_variant E133K 397G>A BLCA-US 15 80423554 80423554 single base substitution G A missense_variant E148K 442G>A BLCA-US 15 80423554 80423554 single base substitution G A missense_variant E149K 445G>A BOCA-FR 15 80354580 80354580 single base substitution A G intron_variant BRCA-EU 15 80346918 80346918 single base substitution C T upstream_gene_variant BRCA-EU 15 80346927 80346927 single base substitution G A upstream_gene_variant BRCA-EU 15 80347095 80347095 single base substitution G A upstream_gene_variant BRCA-EU 15 80347766 80347766 insertion of <=200bp - A upstream_gene_variant BRCA-EU 15 80348218 80348218 single base substitution C T upstream_gene_variant BRCA-EU 15 80349217 80349217 single base substitution A T upstream_gene_variant BRCA-EU 15 80350873 80350873 single base substitution C A upstream_gene_variant BRCA-EU 15 80351248 80351248 single base substitution G C upstream_gene_variant BRCA-EU 15 80351851 80351851 single base substitution C G upstream_gene_variant BRCA-EU 15 80353839 80353839 single base substitution G C intron_variant BRCA-EU 15 80355238 80355238 single base substitution C T intron_variant BRCA-EU 15 80356309 80356309 single base substitution C T intron_variant BRCA-EU 15 80358578 80358578 single base substitution C T intron_variant BRCA-EU 15 80359906 80359906 single base substitution A G intron_variant BRCA-EU 15 80359906 80359906 single base substitution A G upstream_gene_variant BRCA-EU 15 80359951 80359951 insertion of <=200bp - A intron_variant BRCA-EU 15 80359951 80359951 insertion of <=200bp - A upstream_gene_variant BRCA-EU 15 80361442 80361442 single base substitution G A intron_variant BRCA-EU 15 80361442 80361442 single base substitution G A upstream_gene_variant BRCA-EU 15 80362995 80362995 single base substitution C G intron_variant BRCA-EU 15 80362995 80362995 single base substitution C G upstream_gene_variant BRCA-EU 15 80363922 80363922 insertion of <=200bp - T intron_variant BRCA-EU 15 80363922 80363922 insertion of <=200bp - T upstream_gene_variant BRCA-EU 15 80364873 80364873 single base substitution C T intron_variant BRCA-EU 15 80364873 80364873 single base substitution C T upstream_gene_variant BRCA-EU 15 80365730 80365730 single base substitution G A intron_variant BRCA-EU 15 80365730 80365730 single base substitution G A upstream_gene_variant BRCA-EU 15 80366344 80366344 single base substitution G A intron_variant BRCA-EU 15 80366344 80366344 single base substitution G A upstream_gene_variant BRCA-EU 15 80367731 80367731 deletion of <=200bp T - intron_variant BRCA-EU 15 80369225 80369225 single base substitution A C intron_variant BRCA-EU 15 80372330 80372330 deletion of <=200bp T - intron_variant BRCA-EU 15 80373241 80373241 single base substitution C A intron_variant BRCA-EU 15 80376125 80376125 single base substitution C T intron_variant BRCA-EU 15 80378676 80378676 single base substitution C T intron_variant BRCA-EU 15 80379639 80379639 single base substitution C A intron_variant BRCA-EU 15 80380838 80380838 single base substitution A G intron_variant BRCA-EU 15 80382000 80382000 single base substitution A G intron_variant BRCA-EU 15 80383423 80383423 single base substitution G T intron_variant BRCA-EU 15 80388069 80388069 single base substitution A G intron_variant BRCA-EU 15 80388463 80388463 single base substitution C A intron_variant BRCA-EU 15 80388583 80388583 single base substitution G A intron_variant BRCA-EU 15 80390346 80390346 single base substitution C T intron_variant BRCA-EU 15 80392202 80392202 single base substitution G T intron_variant BRCA-EU 15 80392455 80392455 single base substitution C T intron_variant BRCA-EU 15 80394635 80394635 single base substitution G C intron_variant BRCA-EU 15 80395313 80395313 single base substitution C G intron_variant BRCA-EU 15 80396491 80396491 single base substitution A G intron_variant BRCA-EU 15 80398187 80398187 single base substitution C G intron_variant BRCA-EU 15 80399492 80399492 single base substitution G C intron_variant BRCA-EU 15 80399612 80399612 single base substitution G C intron_variant BRCA-EU 15 80399621 80399621 single base substitution G T intron_variant BRCA-EU 15 80402475 80402475 single base substitution C T intron_variant BRCA-EU 15 80404086 80404086 single base substitution A G intron_variant BRCA-EU 15 80404519 80404519 single base substitution T C intron_variant BRCA-EU 15 80405998 80405998 deletion of <=200bp T - intron_variant BRCA-EU 15 80407373 80407373 single base substitution A G 5_prime_UTR_variant BRCA-EU 15 80407373 80407373 single base substitution A G intron_variant BRCA-EU 15 80407441 80407441 deletion of <=200bp T - intron_variant BRCA-EU 15 80408498 80408498 single base substitution A T intron_variant BRCA-EU 15 80414027 80414027 single base substitution C A downstream_gene_variant BRCA-EU 15 80414027 80414027 single base substitution C A intron_variant BRCA-EU 15 80414027 80414027 single base substitution C A upstream_gene_variant BRCA-EU 15 80415539 80415539 single base substitution G A downstream_gene_variant BRCA-EU 15 80415539 80415539 single base substitution G A intron_variant BRCA-EU 15 80415658 80415658 single base substitution C G downstream_gene_variant BRCA-EU 15 80415658 80415658 single base substitution C G intron_variant BRCA-EU 15 80415662 80415662 single base substitution A G downstream_gene_variant BRCA-EU 15 80415662 80415662 single base substitution A G intron_variant BRCA-EU 15 80419967 80419967 single base substitution A G downstream_gene_variant BRCA-EU 15 80419967 80419967 single base substitution A G intron_variant BRCA-EU 15 80419967 80419967 single base substitution A G upstream_gene_variant BRCA-EU 15 80421626 80421626 single base substitution A G intron_variant BRCA-EU 15 80421626 80421626 single base substitution A G upstream_gene_variant BRCA-EU 15 80422576 80422576 single base substitution A C exon_variant BRCA-EU 15 80422576 80422576 single base substitution A C intron_variant BRCA-EU 15 80423734 80423734 single base substitution G A 3_prime_UTR_variant BRCA-EU 15 80423734 80423734 single base substitution G A downstream_gene_variant BRCA-EU 15 80423734 80423734 single base substitution G A intron_variant BRCA-EU 15 80425213 80425213 single base substitution C G downstream_gene_variant BRCA-EU 15 80425213 80425213 single base substitution C G intron_variant BRCA-EU 15 80426433 80426433 single base substitution G A downstream_gene_variant BRCA-EU 15 80426433 80426433 single base substitution G A intron_variant BRCA-EU 15 80426550 80426550 single base substitution C T downstream_gene_variant BRCA-EU 15 80426550 80426550 single base substitution C T intron_variant BRCA-EU 15 80428850 80428850 single base substitution C A downstream_gene_variant BRCA-EU 15 80428850 80428850 single base substitution C A intron_variant BRCA-EU 15 80431889 80431889 insertion of <=200bp - A downstream_gene_variant BRCA-EU 15 80432789 80432789 single base substitution A G downstream_gene_variant BRCA-EU 15 80434994 80434994 single base substitution G C downstream_gene_variant BRCA-EU 15 80435663 80435663 deletion of <=200bp A - downstream_gene_variant BRCA-EU 15 80435663 80435663 insertion of <=200bp - A downstream_gene_variant BRCA-EU 15 80435675 80435675 single base substitution G A downstream_gene_variant BRCA-FR 15 80350124 80350124 single base substitution C T upstream_gene_variant BRCA-FR 15 80351703 80351703 single base substitution C G upstream_gene_variant BRCA-FR 15 80351851 80351851 single base substitution C G upstream_gene_variant BRCA-FR 15 80355238 80355238 single base substitution C T intron_variant BRCA-FR 15 80358578 80358578 single base substitution C T intron_variant BRCA-FR 15 80366898 80366898 single base substitution C G intron_variant BRCA-FR 15 80366898 80366898 single base substitution C G upstream_gene_variant BRCA-FR 15 80408953 80408953 single base substitution A G intron_variant BRCA-FR 15 80414060 80414060 single base substitution C G downstream_gene_variant BRCA-FR 15 80414060 80414060 single base substitution C G intron_variant BRCA-FR 15 80414060 80414060 single base substitution C G missense_variant S54C 161C>G BRCA-FR 15 80414060 80414060 single base substitution C G missense_variant S69C 206C>G BRCA-FR 15 80414060 80414060 single base substitution C G missense_variant S70C 209C>G BRCA-FR 15 80414060 80414060 single base substitution C G upstream_gene_variant BRCA-FR 15 80414980 80414980 single base substitution C G downstream_gene_variant BRCA-FR 15 80414980 80414980 single base substitution C G intron_variant BRCA-FR 15 80425213 80425213 single base substitution C G downstream_gene_variant BRCA-FR 15 80425213 80425213 single base substitution C G intron_variant BRCA-FR 15 80434994 80434994 single base substitution G C downstream_gene_variant BRCA-UK 15 80380838 80380838 single base substitution A G intron_variant BRCA-UK 15 80396491 80396491 single base substitution A G intron_variant BRCA-UK 15 80428453 80428453 single base substitution G A downstream_gene_variant BRCA-UK 15 80428453 80428453 single base substitution G A intron_variant CLLE-ES 15 80382551 80382551 single base substitution T A intron_variant CLLE-ES 15 80402810 80402810 single base substitution T G intron_variant COAD-US 15 80423583 80423583 single base substitution G A downstream_gene_variant COAD-US 15 80423583 80423583 single base substitution G A exon_variant COAD-US 15 80423583 80423583 single base substitution G A intron_variant COAD-US 15 80423583 80423583 single base substitution G A synonymous_variant P130P 390G>A COAD-US 15 80423583 80423583 single base substitution G A synonymous_variant P142P 426G>A COAD-US 15 80423583 80423583 single base substitution G A synonymous_variant P157P 471G>A COAD-US 15 80423583 80423583 single base substitution G A synonymous_variant P158P 474G>A COCA-CN 15 80413935 80413935 single base substitution C T downstream_gene_variant COCA-CN 15 80413935 80413935 single base substitution C T intron_variant COCA-CN 15 80413935 80413935 single base substitution C T upstream_gene_variant COCA-CN 15 80429864 80429864 single base substitution G A exon_variant COCA-CN 15 80429864 80429864 single base substitution G A missense_variant R136H 407G>A COCA-CN 15 80429864 80429864 single base substitution G A missense_variant R162H 485G>A COCA-CN 15 80429864 80429864 single base substitution G A missense_variant R174H 521G>A EOPC-DE 15 80347830 80347830 single base substitution C T upstream_gene_variant EOPC-DE 15 80365631 80365631 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant EOPC-DE 15 80365631 80365631 single base substitution C T intron_variant EOPC-DE 15 80365631 80365631 single base substitution C T upstream_gene_variant EOPC-DE 15 80370337 80370337 single base substitution G A intron_variant EOPC-DE 15 80396357 80396357 single base substitution A T intron_variant ESAD-UK 15 80347531 80347531 single base substitution G T upstream_gene_variant ESAD-UK 15 80348734 80348734 single base substitution G A upstream_gene_variant ESAD-UK 15 80350018 80350018 single base substitution G A upstream_gene_variant ESAD-UK 15 80350189 80350189 single base substitution T C upstream_gene_variant ESAD-UK 15 80352643 80352643 single base substitution G A intron_variant ESAD-UK 15 80352643 80352643 single base substitution G A upstream_gene_variant ESAD-UK 15 80353789 80353789 deletion of <=200bp C - intron_variant ESAD-UK 15 80354077 80354077 single base substitution C T intron_variant ESAD-UK 15 80357538 80357538 single base substitution G A intron_variant ESAD-UK 15 80357755 80357755 single base substitution G T intron_variant ESAD-UK 15 80360841 80360841 single base substitution G A intron_variant ESAD-UK 15 80360841 80360841 single base substitution G A upstream_gene_variant ESAD-UK 15 80360871 80360871 single base substitution G A intron_variant ESAD-UK 15 80360871 80360871 single base substitution G A upstream_gene_variant ESAD-UK 15 80361707 80361707 single base substitution A G intron_variant ESAD-UK 15 80361707 80361707 single base substitution A G upstream_gene_variant ESAD-UK 15 80367731 80367731 deletion of <=200bp T - intron_variant ESAD-UK 15 80370399 80370399 insertion of <=200bp - T intron_variant ESAD-UK 15 80371360 80371360 single base substitution C T intron_variant ESAD-UK 15 80372338 80372338 single base substitution C T intron_variant ESAD-UK 15 80372515 80372515 single base substitution T C intron_variant ESAD-UK 15 80372524 80372524 single base substitution C T intron_variant ESAD-UK 15 80373118 80373118 single base substitution G A intron_variant ESAD-UK 15 80375714 80375714 single base substitution T C intron_variant ESAD-UK 15 80375950 80375950 single base substitution T C intron_variant ESAD-UK 15 80376502 80376502 single base substitution A G intron_variant ESAD-UK 15 80379791 80379791 single base substitution G A intron_variant ESAD-UK 15 80385600 80385600 single base substitution C T intron_variant ESAD-UK 15 80386942 80386942 single base substitution T C intron_variant ESAD-UK 15 80390384 80390384 single base substitution G A intron_variant ESAD-UK 15 80390766 80390766 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 15 80390766 80390766 single base substitution C G intron_variant ESAD-UK 15 80390769 80390769 single base substitution A C 5_prime_UTR_variant ESAD-UK 15 80390769 80390769 single base substitution A C intron_variant ESAD-UK 15 80394089 80394089 single base substitution C A intron_variant ESAD-UK 15 80394302 80394302 insertion of <=200bp - T intron_variant ESAD-UK 15 80394511 80394511 single base substitution G A intron_variant ESAD-UK 15 80397529 80397529 single base substitution G A intron_variant ESAD-UK 15 80398335 80398335 single base substitution G T intron_variant ESAD-UK 15 80400104 80400104 single base substitution T C intron_variant ESAD-UK 15 80401086 80401086 single base substitution C T intron_variant ESAD-UK 15 80402686 80402686 single base substitution C A intron_variant ESAD-UK 15 80402940 80402940 single base substitution T A intron_variant ESAD-UK 15 80403819 80403819 single base substitution G T 5_prime_UTR_variant ESAD-UK 15 80403819 80403819 single base substitution G T intron_variant ESAD-UK 15 80409092 80409092 single base substitution C G intron_variant ESAD-UK 15 80409092 80409092 single base substitution C G upstream_gene_variant ESAD-UK 15 80411174 80411174 single base substitution G C intron_variant ESAD-UK 15 80411174 80411174 single base substitution G C upstream_gene_variant ESAD-UK 15 80411258 80411258 single base substitution G C intron_variant ESAD-UK 15 80411258 80411258 single base substitution G C upstream_gene_variant ESAD-UK 15 80411928 80411928 single base substitution A T intron_variant ESAD-UK 15 80411928 80411928 single base substitution A T upstream_gene_variant ESAD-UK 15 80412082 80412082 single base substitution G T intron_variant ESAD-UK 15 80412082 80412082 single base substitution G T upstream_gene_variant ESAD-UK 15 80415275 80415275 single base substitution T G downstream_gene_variant ESAD-UK 15 80415275 80415275 single base substitution T G exon_variant ESAD-UK 15 80415275 80415275 single base substitution T G intron_variant ESAD-UK 15 80416082 80416082 single base substitution G A downstream_gene_variant ESAD-UK 15 80416082 80416082 single base substitution G A intron_variant ESAD-UK 15 80416944 80416944 single base substitution A T downstream_gene_variant ESAD-UK 15 80416944 80416944 single base substitution A T intron_variant ESAD-UK 15 80416944 80416944 single base substitution A T upstream_gene_variant ESAD-UK 15 80417233 80417233 single base substitution A T downstream_gene_variant ESAD-UK 15 80417233 80417233 single base substitution A T intron_variant ESAD-UK 15 80417233 80417233 single base substitution A T upstream_gene_variant ESAD-UK 15 80419558 80419558 single base substitution C T downstream_gene_variant ESAD-UK 15 80419558 80419558 single base substitution C T intron_variant ESAD-UK 15 80419558 80419558 single base substitution C T upstream_gene_variant ESAD-UK 15 80420501 80420501 single base substitution C A intron_variant ESAD-UK 15 80420501 80420501 single base substitution C A upstream_gene_variant ESAD-UK 15 80421133 80421133 single base substitution G A intron_variant ESAD-UK 15 80421133 80421133 single base substitution G A upstream_gene_variant ESAD-UK 15 80422330 80422330 single base substitution G C exon_variant ESAD-UK 15 80422330 80422330 single base substitution G C intron_variant ESAD-UK 15 80424751 80424751 single base substitution G A downstream_gene_variant ESAD-UK 15 80424751 80424751 single base substitution G A intron_variant ESAD-UK 15 80428310 80428310 single base substitution T A downstream_gene_variant ESAD-UK 15 80428310 80428310 single base substitution T A intron_variant ESAD-UK 15 80429898 80429898 single base substitution C A exon_variant ESAD-UK 15 80429898 80429898 single base substitution C A stop_gained Y147* 441C>A ESAD-UK 15 80429898 80429898 single base substitution C A stop_gained Y173* 519C>A ESAD-UK 15 80429898 80429898 single base substitution C A stop_gained Y185* 555C>A LICA-FR 15 80358672 80358672 single base substitution A C intron_variant LICA-FR 15 80369940 80369940 single base substitution G A intron_variant LICA-FR 15 80393650 80393650 deletion of <=200bp A - intron_variant LICA-FR 15 80407251 80407251 single base substitution A T intron_variant LICA-FR 15 80407941 80407941 single base substitution T C intron_variant LICA-FR 15 80418501 80418501 single base substitution C A downstream_gene_variant LICA-FR 15 80418501 80418501 single base substitution C A intron_variant LICA-FR 15 80418501 80418501 single base substitution C A upstream_gene_variant LICA-FR 15 80425284 80425284 insertion of <=200bp - AAA downstream_gene_variant LICA-FR 15 80425284 80425284 insertion of <=200bp - AAA intron_variant LINC-JP 15 80354019 80354019 single base substitution A G intron_variant LINC-JP 15 80355477 80355477 single base substitution C A intron_variant LINC-JP 15 80359798 80359798 insertion of <=200bp - T intron_variant LINC-JP 15 80359980 80359980 single base substitution A G intron_variant LINC-JP 15 80359980 80359980 single base substitution A G upstream_gene_variant LINC-JP 15 80365163 80365163 single base substitution A G intron_variant LINC-JP 15 80365163 80365163 single base substitution A G upstream_gene_variant LINC-JP 15 80378755 80378755 single base substitution G T intron_variant LINC-JP 15 80402737 80402737 single base substitution A G intron_variant LINC-JP 15 80410359 80410359 insertion of <=200bp - TGTGTGTG intron_variant LINC-JP 15 80410359 80410359 insertion of <=200bp - TGTGTGTG upstream_gene_variant LINC-JP 15 80433616 80433616 single base substitution T C downstream_gene_variant LIRI-JP 15 80347081 80347081 single base substitution C T upstream_gene_variant LIRI-JP 15 80348448 80348448 single base substitution C G upstream_gene_variant LIRI-JP 15 80350411 80350411 single base substitution G A upstream_gene_variant LIRI-JP 15 80353431 80353431 single base substitution T C intron_variant LIRI-JP 15 80353772 80353772 single base substitution A G intron_variant LIRI-JP 15 80355309 80355309 single base substitution A G intron_variant LIRI-JP 15 80355992 80355992 single base substitution G T intron_variant LIRI-JP 15 80356899 80356899 single base substitution A G intron_variant LIRI-JP 15 80356914 80356914 single base substitution A G intron_variant LIRI-JP 15 80358860 80358860 single base substitution G A intron_variant LIRI-JP 15 80364222 80364223 deletion of <=200bp AT - intron_variant LIRI-JP 15 80364222 80364223 deletion of <=200bp AT - upstream_gene_variant LIRI-JP 15 80364417 80364417 single base substitution T C intron_variant LIRI-JP 15 80364417 80364417 single base substitution T C upstream_gene_variant LIRI-JP 15 80365574 80365577 deletion of <=200bp CTTA - intron_variant LIRI-JP 15 80365574 80365577 deletion of <=200bp CTTA - upstream_gene_variant LIRI-JP 15 80369703 80369703 single base substitution C T intron_variant LIRI-JP 15 80371086 80371086 single base substitution A T intron_variant LIRI-JP 15 80374840 80374840 single base substitution G A intron_variant LIRI-JP 15 80379369 80379369 single base substitution A G intron_variant LIRI-JP 15 80380023 80380023 single base substitution T C intron_variant LIRI-JP 15 80380057 80380057 single base substitution A G intron_variant LIRI-JP 15 80380783 80380783 single base substitution C A intron_variant LIRI-JP 15 80382909 80382909 single base substitution T G intron_variant LIRI-JP 15 80383106 80383106 single base substitution A G intron_variant LIRI-JP 15 80383809 80383809 single base substitution G A intron_variant LIRI-JP 15 80384610 80384610 single base substitution C G intron_variant LIRI-JP 15 80388767 80388767 single base substitution T C intron_variant LIRI-JP 15 80388930 80388930 single base substitution A T intron_variant LIRI-JP 15 80390529 80390529 single base substitution C A intron_variant LIRI-JP 15 80391177 80391177 single base substitution A G intron_variant LIRI-JP 15 80392583 80392583 single base substitution T G intron_variant LIRI-JP 15 80393982 80393982 single base substitution A G intron_variant LIRI-JP 15 80393997 80393997 single base substitution C A intron_variant LIRI-JP 15 80394681 80394681 single base substitution C G intron_variant LIRI-JP 15 80396473 80396473 single base substitution C T intron_variant LIRI-JP 15 80398184 80398184 single base substitution A G intron_variant LIRI-JP 15 80398453 80398453 single base substitution G T intron_variant LIRI-JP 15 80398868 80398868 single base substitution T A intron_variant LIRI-JP 15 80399787 80399787 single base substitution C G intron_variant LIRI-JP 15 80403704 80403704 single base substitution T C intron_variant LIRI-JP 15 80405991 80405991 single base substitution A T intron_variant LIRI-JP 15 80407386 80407386 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 15 80407386 80407386 single base substitution T G intron_variant LIRI-JP 15 80407927 80407927 single base substitution C T intron_variant LIRI-JP 15 80411539 80411539 single base substitution G T intron_variant LIRI-JP 15 80411539 80411539 single base substitution G T upstream_gene_variant LIRI-JP 15 80413583 80413583 single base substitution C G downstream_gene_variant LIRI-JP 15 80413583 80413583 single base substitution C G intron_variant LIRI-JP 15 80413583 80413583 single base substitution C G upstream_gene_variant LIRI-JP 15 80413754 80413754 single base substitution C G downstream_gene_variant LIRI-JP 15 80413754 80413754 single base substitution C G intron_variant LIRI-JP 15 80413754 80413754 single base substitution C G upstream_gene_variant LIRI-JP 15 80414508 80414508 single base substitution A G downstream_gene_variant LIRI-JP 15 80414508 80414508 single base substitution A G intron_variant LIRI-JP 15 80415160 80415160 deletion of <=200bp C - downstream_gene_variant LIRI-JP 15 80415160 80415160 deletion of <=200bp C - exon_variant LIRI-JP 15 80415160 80415160 deletion of <=200bp C - intron_variant LIRI-JP 15 80415607 80415607 single base substitution G A downstream_gene_variant LIRI-JP 15 80415607 80415607 single base substitution G A intron_variant LIRI-JP 15 80415923 80415923 single base substitution C A downstream_gene_variant LIRI-JP 15 80415923 80415923 single base substitution C A intron_variant LIRI-JP 15 80419477 80419477 single base substitution T C downstream_gene_variant LIRI-JP 15 80419477 80419477 single base substitution T C intron_variant LIRI-JP 15 80419477 80419477 single base substitution T C upstream_gene_variant LIRI-JP 15 80420832 80420835 deletion of <=200bp TTGT - intron_variant LIRI-JP 15 80420832 80420835 deletion of <=200bp TTGT - upstream_gene_variant LIRI-JP 15 80422829 80422829 single base substitution G T exon_variant LIRI-JP 15 80422829 80422829 single base substitution G T intron_variant LIRI-JP 15 80422921 80422921 single base substitution A T exon_variant LIRI-JP 15 80422921 80422921 single base substitution A T intron_variant LIRI-JP 15 80423010 80423010 single base substitution C G exon_variant LIRI-JP 15 80423010 80423010 single base substitution C G intron_variant LIRI-JP 15 80423440 80423440 single base substitution A G exon_variant LIRI-JP 15 80423440 80423440 single base substitution A G intron_variant LIRI-JP 15 80423630 80423630 insertion of <=200bp - T downstream_gene_variant LIRI-JP 15 80423630 80423630 insertion of <=200bp - T exon_variant LIRI-JP 15 80423630 80423630 insertion of <=200bp - T frameshift_variant L146L? LIRI-JP 15 80423630 80423630 insertion of <=200bp - T frameshift_variant L158L? LIRI-JP 15 80423630 80423630 insertion of <=200bp - T frameshift_variant L173L? LIRI-JP 15 80423630 80423630 insertion of <=200bp - T intron_variant LIRI-JP 15 80426018 80426018 single base substitution A G downstream_gene_variant LIRI-JP 15 80426018 80426018 single base substitution A G intron_variant LIRI-JP 15 80426863 80426863 single base substitution A G downstream_gene_variant LIRI-JP 15 80426863 80426863 single base substitution A G intron_variant LIRI-JP 15 80427713 80427713 single base substitution G A downstream_gene_variant LIRI-JP 15 80427713 80427713 single base substitution G A intron_variant LIRI-JP 15 80428675 80428675 single base substitution C T downstream_gene_variant LIRI-JP 15 80428675 80428675 single base substitution C T intron_variant LIRI-JP 15 80429099 80429099 single base substitution T G intron_variant LIRI-JP 15 80429381 80429398 deletion of <=200bp GTTAGCAGAGAAAAGCAA - intron_variant LIRI-JP 15 80429440 80429440 single base substitution A G intron_variant LIRI-JP 15 80429500 80429500 single base substitution C T intron_variant LIRI-JP 15 80430318 80430318 single base substitution A G 3_prime_UTR_variant LIRI-JP 15 80430318 80430318 single base substitution A G downstream_gene_variant LIRI-JP 15 80430318 80430318 single base substitution A G exon_variant LIRI-JP 15 80431427 80431427 single base substitution C A downstream_gene_variant LIRI-JP 15 80432007 80432007 single base substitution C T downstream_gene_variant LIRI-JP 15 80432416 80432416 single base substitution G A downstream_gene_variant LIRI-JP 15 80433472 80433472 single base substitution A G downstream_gene_variant LIRI-JP 15 80434785 80434785 single base substitution A G downstream_gene_variant LIRI-JP 15 80435239 80435239 single base substitution T G downstream_gene_variant LUSC-KR 15 80347685 80347685 single base substitution G T upstream_gene_variant LUSC-KR 15 80351662 80351662 single base substitution C G upstream_gene_variant LUSC-KR 15 80353048 80353048 single base substitution G A 5_prime_UTR_variant LUSC-KR 15 80353048 80353048 single base substitution G A intron_variant LUSC-KR 15 80353260 80353260 single base substitution T C intron_variant LUSC-KR 15 80353851 80353851 single base substitution T C intron_variant LUSC-KR 15 80357912 80357912 single base substitution G C intron_variant LUSC-KR 15 80360017 80360017 single base substitution G A intron_variant LUSC-KR 15 80360017 80360017 single base substitution G A upstream_gene_variant LUSC-KR 15 80360859 80360859 single base substitution G A intron_variant LUSC-KR 15 80360859 80360859 single base substitution G A upstream_gene_variant LUSC-KR 15 80363974 80363974 single base substitution A T intron_variant LUSC-KR 15 80363974 80363974 single base substitution A T upstream_gene_variant LUSC-KR 15 80375744 80375744 single base substitution C G intron_variant LUSC-KR 15 80376062 80376062 single base substitution G T intron_variant LUSC-KR 15 80381627 80381627 single base substitution G T intron_variant LUSC-KR 15 80387660 80387660 single base substitution T C intron_variant LUSC-KR 15 80389680 80389680 single base substitution A G intron_variant LUSC-KR 15 80391058 80391058 single base substitution G T intron_variant LUSC-KR 15 80397282 80397282 single base substitution A G intron_variant LUSC-KR 15 80397914 80397914 single base substitution C G intron_variant LUSC-KR 15 80414294 80414294 single base substitution A G downstream_gene_variant LUSC-KR 15 80414294 80414294 single base substitution A G intron_variant LUSC-KR 15 80416572 80416572 single base substitution G A downstream_gene_variant LUSC-KR 15 80416572 80416572 single base substitution G A intron_variant LUSC-KR 15 80424183 80424183 single base substitution G T downstream_gene_variant LUSC-KR 15 80424183 80424183 single base substitution G T intron_variant LUSC-KR 15 80432497 80432497 single base substitution G T downstream_gene_variant LUSC-KR 15 80433906 80433906 single base substitution A C downstream_gene_variant LUSC-KR 15 80435225 80435225 single base substitution G T downstream_gene_variant LUSC-US 15 80415061 80415061 single base substitution C T downstream_gene_variant LUSC-US 15 80415061 80415061 single base substitution C T exon_variant LUSC-US 15 80415061 80415061 single base substitution C T missense_variant L110F 328C>T LUSC-US 15 80415061 80415061 single base substitution C T missense_variant L111F 331C>T LUSC-US 15 80415061 80415061 single base substitution C T missense_variant L83F 247C>T LUSC-US 15 80415061 80415061 single base substitution C T missense_variant L95F 283C>T LUSC-US 15 80423536 80423536 single base substitution A G exon_variant LUSC-US 15 80423536 80423536 single base substitution A G intron_variant LUSC-US 15 80423536 80423536 single base substitution A G missense_variant T115A 343A>G LUSC-US 15 80423536 80423536 single base substitution A G missense_variant T127A 379A>G LUSC-US 15 80423536 80423536 single base substitution A G missense_variant T142A 424A>G LUSC-US 15 80423536 80423536 single base substitution A G missense_variant T143A 427A>G LUSC-US 15 80423618 80423618 single base substitution A G downstream_gene_variant LUSC-US 15 80423618 80423618 single base substitution A G exon_variant LUSC-US 15 80423618 80423618 single base substitution A G intron_variant LUSC-US 15 80423618 80423618 single base substitution A G missense_variant K142R 425A>G LUSC-US 15 80423618 80423618 single base substitution A G missense_variant K154R 461A>G LUSC-US 15 80423618 80423618 single base substitution A G missense_variant K169R 506A>G MALY-DE 15 80350540 80350540 single base substitution T A upstream_gene_variant MALY-DE 15 80352303 80352303 single base substitution C G intron_variant MALY-DE 15 80352303 80352303 single base substitution C G upstream_gene_variant MALY-DE 15 80352348 80352348 single base substitution C A intron_variant MALY-DE 15 80352348 80352348 single base substitution C A upstream_gene_variant MALY-DE 15 80352384 80352384 single base substitution C T intron_variant MALY-DE 15 80352384 80352384 single base substitution C T upstream_gene_variant MALY-DE 15 80352557 80352557 single base substitution G C intron_variant MALY-DE 15 80352557 80352557 single base substitution G C upstream_gene_variant MALY-DE 15 80352565 80352565 single base substitution G C intron_variant MALY-DE 15 80352565 80352565 single base substitution G C upstream_gene_variant MALY-DE 15 80352701 80352701 single base substitution C T intron_variant MALY-DE 15 80352701 80352701 single base substitution C T upstream_gene_variant MALY-DE 15 80352715 80352715 single base substitution G A intron_variant MALY-DE 15 80352715 80352715 single base substitution G A upstream_gene_variant MALY-DE 15 80352719 80352719 single base substitution G C intron_variant MALY-DE 15 80352719 80352719 single base substitution G C upstream_gene_variant MALY-DE 15 80352738 80352738 single base substitution T G intron_variant MALY-DE 15 80352738 80352738 single base substitution T G upstream_gene_variant MALY-DE 15 80352775 80352775 single base substitution G A 5_prime_UTR_variant MALY-DE 15 80352775 80352775 single base substitution G A intron_variant MALY-DE 15 80352783 80352783 single base substitution A C 5_prime_UTR_variant MALY-DE 15 80352783 80352783 single base substitution A C intron_variant MALY-DE 15 80352792 80352792 single base substitution G A 5_prime_UTR_variant MALY-DE 15 80352792 80352792 single base substitution G A intron_variant MALY-DE 15 80352822 80352822 single base substitution C G 5_prime_UTR_variant MALY-DE 15 80352822 80352822 single base substitution C G intron_variant MALY-DE 15 80352842 80352842 single base substitution C T 5_prime_UTR_variant MALY-DE 15 80352842 80352842 single base substitution C T intron_variant MALY-DE 15 80352846 80352846 single base substitution C G 5_prime_UTR_variant MALY-DE 15 80352846 80352846 single base substitution C G intron_variant MALY-DE 15 80352856 80352856 single base substitution C G 5_prime_UTR_variant MALY-DE 15 80352856 80352856 single base substitution C G intron_variant MALY-DE 15 80352879 80352879 single base substitution T A 5_prime_UTR_variant MALY-DE 15 80352879 80352879 single base substitution T A intron_variant MALY-DE 15 80353017 80353017 single base substitution G C 5_prime_UTR_variant MALY-DE 15 80353017 80353017 single base substitution G C intron_variant MALY-DE 15 80353030 80353030 single base substitution C G 5_prime_UTR_variant MALY-DE 15 80353030 80353030 single base substitution C G intron_variant MALY-DE 15 80353040 80353040 single base substitution C T 5_prime_UTR_variant MALY-DE 15 80353040 80353040 single base substitution C T intron_variant MALY-DE 15 80353485 80353485 single base substitution G A intron_variant MALY-DE 15 80353825 80353825 single base substitution G A intron_variant MALY-DE 15 80353897 80353897 single base substitution G C intron_variant MALY-DE 15 80353916 80353916 single base substitution T G intron_variant MALY-DE 15 80353969 80353969 single base substitution T G intron_variant MALY-DE 15 80354535 80354535 single base substitution C G intron_variant MALY-DE 15 80355725 80355725 single base substitution C G intron_variant MALY-DE 15 80372638 80372638 single base substitution C G intron_variant MALY-DE 15 80386554 80386554 single base substitution G A intron_variant MALY-DE 15 80387847 80387847 single base substitution A G intron_variant MALY-DE 15 80391595 80391595 single base substitution G T intron_variant MALY-DE 15 80401478 80401478 single base substitution T C intron_variant MALY-DE 15 80406031 80406031 single base substitution T G intron_variant MALY-DE 15 80411928 80411928 single base substitution A T intron_variant MALY-DE 15 80411928 80411928 single base substitution A T upstream_gene_variant MALY-DE 15 80415425 80415425 single base substitution C A downstream_gene_variant MALY-DE 15 80415425 80415425 single base substitution C A intron_variant MALY-DE 15 80420103 80420103 single base substitution G T downstream_gene_variant MALY-DE 15 80420103 80420103 single base substitution G T intron_variant MALY-DE 15 80420103 80420103 single base substitution G T upstream_gene_variant MALY-DE 15 80423336 80423336 single base substitution T A exon_variant MALY-DE 15 80423336 80423336 single base substitution T A intron_variant MALY-DE 15 80424317 80424317 single base substitution T C downstream_gene_variant MALY-DE 15 80424317 80424317 single base substitution T C intron_variant MALY-DE 15 80433770 80433770 single base substitution G A downstream_gene_variant MALY-DE 15 80434263 80434263 single base substitution A G downstream_gene_variant MELA-AU 15 80347295 80347295 single base substitution G A upstream_gene_variant MELA-AU 15 80347314 80347315 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 15 80347559 80347559 single base substitution C T upstream_gene_variant MELA-AU 15 80347571 80347571 single base substitution G A upstream_gene_variant MELA-AU 15 80347677 80347677 single base substitution G A upstream_gene_variant MELA-AU 15 80347734 80347734 single base substitution G A upstream_gene_variant MELA-AU 15 80347885 80347885 single base substitution C T upstream_gene_variant MELA-AU 15 80347940 80347941 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 15 80348566 80348566 single base substitution C T upstream_gene_variant MELA-AU 15 80348828 80348828 single base substitution C T upstream_gene_variant MELA-AU 15 80349224 80349224 single base substitution C T upstream_gene_variant MELA-AU 15 80349800 80349800 single base substitution G A upstream_gene_variant MELA-AU 15 80350037 80350037 single base substitution C T upstream_gene_variant MELA-AU 15 80350221 80350221 single base substitution G T upstream_gene_variant MELA-AU 15 80350539 80350539 single base substitution G A upstream_gene_variant MELA-AU 15 80350646 80350646 single base substitution C T upstream_gene_variant MELA-AU 15 80350730 80350730 single base substitution C T upstream_gene_variant MELA-AU 15 80350780 80350780 single base substitution C T upstream_gene_variant MELA-AU 15 80350782 80350782 single base substitution G A upstream_gene_variant MELA-AU 15 80351241 80351241 single base substitution C A upstream_gene_variant MELA-AU 15 80351824 80351824 single base substitution C T upstream_gene_variant MELA-AU 15 80351825 80351825 single base substitution C T upstream_gene_variant MELA-AU 15 80351880 80351880 single base substitution C T upstream_gene_variant MELA-AU 15 80351901 80351901 single base substitution C T upstream_gene_variant MELA-AU 15 80351924 80351924 single base substitution G A 5_prime_UTR_variant MELA-AU 15 80351924 80351924 single base substitution G A upstream_gene_variant MELA-AU 15 80352792 80352792 single base substitution G A 5_prime_UTR_variant MELA-AU 15 80352792 80352792 single base substitution G A intron_variant MELA-AU 15 80353599 80353599 single base substitution C T intron_variant MELA-AU 15 80353873 80353874 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 15 80354675 80354675 single base substitution T A intron_variant MELA-AU 15 80355248 80355248 single base substitution C T intron_variant MELA-AU 15 80355776 80355776 single base substitution C T intron_variant MELA-AU 15 80357930 80357930 single base substitution C T intron_variant MELA-AU 15 80358203 80358203 single base substitution A G intron_variant MELA-AU 15 80358779 80358779 single base substitution T C intron_variant MELA-AU 15 80358954 80358954 single base substitution C G intron_variant MELA-AU 15 80359283 80359283 single base substitution C T intron_variant MELA-AU 15 80359532 80359532 single base substitution T A intron_variant MELA-AU 15 80360318 80360318 single base substitution T C intron_variant MELA-AU 15 80360318 80360318 single base substitution T C upstream_gene_variant MELA-AU 15 80360580 80360580 single base substitution C T intron_variant MELA-AU 15 80360580 80360580 single base substitution C T upstream_gene_variant MELA-AU 15 80360910 80360910 single base substitution C T intron_variant MELA-AU 15 80360910 80360910 single base substitution C T upstream_gene_variant MELA-AU 15 80361599 80361599 single base substitution C T intron_variant MELA-AU 15 80361599 80361599 single base substitution C T upstream_gene_variant MELA-AU 15 80361657 80361657 single base substitution C T intron_variant MELA-AU 15 80361657 80361657 single base substitution C T upstream_gene_variant MELA-AU 15 80361961 80361961 single base substitution T C intron_variant MELA-AU 15 80361961 80361961 single base substitution T C upstream_gene_variant MELA-AU 15 80362125 80362125 single base substitution A T intron_variant MELA-AU 15 80362125 80362125 single base substitution A T upstream_gene_variant MELA-AU 15 80362187 80362187 single base substitution G A intron_variant MELA-AU 15 80362187 80362187 single base substitution G A upstream_gene_variant MELA-AU 15 80362961 80362961 single base substitution C T intron_variant MELA-AU 15 80362961 80362961 single base substitution C T upstream_gene_variant MELA-AU 15 80363647 80363647 single base substitution G A intron_variant MELA-AU 15 80363647 80363647 single base substitution G A upstream_gene_variant MELA-AU 15 80364014 80364014 single base substitution G A intron_variant MELA-AU 15 80364014 80364014 single base substitution G A upstream_gene_variant MELA-AU 15 80365063 80365063 single base substitution A G intron_variant MELA-AU 15 80365063 80365063 single base substitution A G upstream_gene_variant MELA-AU 15 80365274 80365274 single base substitution T C intron_variant MELA-AU 15 80365274 80365274 single base substitution T C upstream_gene_variant MELA-AU 15 80365312 80365312 single base substitution T G intron_variant MELA-AU 15 80365312 80365312 single base substitution T G upstream_gene_variant MELA-AU 15 80366224 80366224 single base substitution C T intron_variant MELA-AU 15 80366224 80366224 single base substitution C T upstream_gene_variant MELA-AU 15 80366514 80366514 single base substitution C T intron_variant MELA-AU 15 80366514 80366514 single base substitution C T upstream_gene_variant MELA-AU 15 80367004 80367004 single base substitution C T intron_variant MELA-AU 15 80367004 80367004 single base substitution C T upstream_gene_variant MELA-AU 15 80367219 80367219 single base substitution C T intron_variant MELA-AU 15 80367219 80367219 single base substitution C T upstream_gene_variant MELA-AU 15 80367521 80367521 single base substitution A G 5_prime_UTR_variant MELA-AU 15 80367521 80367521 single base substitution A G intron_variant MELA-AU 15 80367521 80367521 single base substitution A G upstream_gene_variant MELA-AU 15 80367971 80367971 single base substitution T G intron_variant MELA-AU 15 80368137 80368137 single base substitution C T intron_variant MELA-AU 15 80368210 80368210 single base substitution C T intron_variant MELA-AU 15 80369825 80369825 deletion of <=200bp A - intron_variant MELA-AU 15 80369998 80369998 single base substitution C T intron_variant MELA-AU 15 80370283 80370283 single base substitution C T intron_variant MELA-AU 15 80370491 80370491 single base substitution C T intron_variant MELA-AU 15 80370551 80370551 single base substitution C T intron_variant MELA-AU 15 80371316 80371316 single base substitution G T intron_variant MELA-AU 15 80371372 80371372 single base substitution C T intron_variant MELA-AU 15 80371390 80371390 single base substitution C T intron_variant MELA-AU 15 80371398 80371398 single base substitution A G intron_variant MELA-AU 15 80371507 80371507 single base substitution G A intron_variant MELA-AU 15 80372219 80372219 single base substitution T C intron_variant MELA-AU 15 80372338 80372338 single base substitution C T intron_variant MELA-AU 15 80372846 80372846 single base substitution A G intron_variant MELA-AU 15 80374141 80374141 single base substitution C T intron_variant MELA-AU 15 80374254 80374254 single base substitution T G intron_variant MELA-AU 15 80374666 80374666 single base substitution C T intron_variant MELA-AU 15 80374957 80374957 single base substitution C T intron_variant MELA-AU 15 80375226 80375226 single base substitution C T intron_variant MELA-AU 15 80375356 80375356 single base substitution T C intron_variant MELA-AU 15 80375701 80375701 single base substitution C T intron_variant MELA-AU 15 80375817 80375817 single base substitution C T intron_variant MELA-AU 15 80376045 80376045 single base substitution C A intron_variant MELA-AU 15 80377801 80377801 single base substitution C T intron_variant MELA-AU 15 80378783 80378783 single base substitution C T intron_variant MELA-AU 15 80379367 80379367 single base substitution C T intron_variant MELA-AU 15 80379945 80379945 single base substitution T C intron_variant MELA-AU 15 80380615 80380615 single base substitution C T intron_variant MELA-AU 15 80380629 80380630 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80381069 80381069 single base substitution T C intron_variant MELA-AU 15 80381252 80381252 single base substitution C T intron_variant MELA-AU 15 80381298 80381298 single base substitution C T intron_variant MELA-AU 15 80382845 80382845 single base substitution T A intron_variant MELA-AU 15 80382937 80382938 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80383112 80383112 single base substitution A C intron_variant MELA-AU 15 80383318 80383318 single base substitution A T intron_variant MELA-AU 15 80383368 80383368 single base substitution T C intron_variant MELA-AU 15 80383706 80383706 single base substitution C T intron_variant MELA-AU 15 80384594 80384594 single base substitution C T intron_variant MELA-AU 15 80385333 80385333 single base substitution C T intron_variant MELA-AU 15 80385941 80385942 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80386538 80386538 single base substitution C T intron_variant MELA-AU 15 80386852 80386852 single base substitution C T intron_variant MELA-AU 15 80386981 80386981 single base substitution T G intron_variant MELA-AU 15 80387134 80387134 single base substitution C T intron_variant MELA-AU 15 80387313 80387313 single base substitution C T intron_variant MELA-AU 15 80387456 80387456 single base substitution C T intron_variant MELA-AU 15 80387584 80387584 single base substitution C T intron_variant MELA-AU 15 80389041 80389041 single base substitution C T intron_variant MELA-AU 15 80389942 80389942 single base substitution G A intron_variant MELA-AU 15 80390019 80390019 single base substitution C A intron_variant MELA-AU 15 80390680 80390680 single base substitution C T intron_variant MELA-AU 15 80390823 80390823 single base substitution C T 5_prime_UTR_variant MELA-AU 15 80390823 80390823 single base substitution C T intron_variant MELA-AU 15 80391089 80391089 single base substitution T A intron_variant MELA-AU 15 80391179 80391179 single base substitution C T intron_variant MELA-AU 15 80391510 80391510 single base substitution G A intron_variant MELA-AU 15 80391610 80391610 single base substitution C T intron_variant MELA-AU 15 80391651 80391651 single base substitution C T intron_variant MELA-AU 15 80393869 80393869 single base substitution G A intron_variant MELA-AU 15 80394147 80394147 single base substitution T C intron_variant MELA-AU 15 80394177 80394177 single base substitution C T intron_variant MELA-AU 15 80394226 80394226 single base substitution C T intron_variant MELA-AU 15 80394532 80394533 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80395243 80395243 single base substitution G A intron_variant MELA-AU 15 80395333 80395333 single base substitution C T intron_variant MELA-AU 15 80395425 80395425 single base substitution C T intron_variant MELA-AU 15 80395967 80395967 single base substitution A G intron_variant MELA-AU 15 80396812 80396812 single base substitution G T intron_variant MELA-AU 15 80396875 80396875 single base substitution G A intron_variant MELA-AU 15 80396878 80396878 single base substitution A C intron_variant MELA-AU 15 80397388 80397388 single base substitution C T intron_variant MELA-AU 15 80398124 80398124 single base substitution C T intron_variant MELA-AU 15 80398176 80398176 single base substitution T C intron_variant MELA-AU 15 80398297 80398297 single base substitution G A intron_variant MELA-AU 15 80398643 80398643 single base substitution G A intron_variant MELA-AU 15 80399260 80399260 single base substitution G A intron_variant MELA-AU 15 80399409 80399409 single base substitution C T intron_variant MELA-AU 15 80399699 80399699 single base substitution C T intron_variant MELA-AU 15 80399723 80399723 single base substitution C T intron_variant MELA-AU 15 80400334 80400334 single base substitution C T intron_variant MELA-AU 15 80401551 80401551 single base substitution C T intron_variant MELA-AU 15 80402694 80402694 single base substitution T A intron_variant MELA-AU 15 80403252 80403252 single base substitution C T intron_variant MELA-AU 15 80403898 80403899 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 15 80403898 80403899 multiple base substitution (>=2bp and <=200bp) CT TA missense_variant LL19LM MELA-AU 15 80403898 80403899 multiple base substitution (>=2bp and <=200bp) CT TA splice_region_variant MELA-AU 15 80403980 80403980 single base substitution T C intron_variant MELA-AU 15 80404423 80404423 single base substitution G A intron_variant MELA-AU 15 80405024 80405025 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80405273 80405273 single base substitution C T intron_variant MELA-AU 15 80405396 80405396 single base substitution C T intron_variant MELA-AU 15 80407112 80407112 deletion of <=200bp T - intron_variant MELA-AU 15 80408412 80408412 single base substitution C T intron_variant MELA-AU 15 80408592 80408592 single base substitution C T intron_variant MELA-AU 15 80408646 80408646 single base substitution C T intron_variant MELA-AU 15 80410498 80410498 single base substitution C T intron_variant MELA-AU 15 80410498 80410498 single base substitution C T upstream_gene_variant MELA-AU 15 80411378 80411378 single base substitution C T intron_variant MELA-AU 15 80411378 80411378 single base substitution C T upstream_gene_variant MELA-AU 15 80411854 80411854 single base substitution C T intron_variant MELA-AU 15 80411854 80411854 single base substitution C T upstream_gene_variant MELA-AU 15 80411927 80411927 single base substitution T A intron_variant MELA-AU 15 80411927 80411927 single base substitution T A upstream_gene_variant MELA-AU 15 80413063 80413063 single base substitution C T downstream_gene_variant MELA-AU 15 80413063 80413063 single base substitution C T exon_variant MELA-AU 15 80413063 80413063 single base substitution C T intron_variant MELA-AU 15 80413063 80413063 single base substitution C T upstream_gene_variant MELA-AU 15 80413880 80413881 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 15 80413880 80413881 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 15 80413880 80413881 multiple base substitution (>=2bp and <=200bp) TT AA upstream_gene_variant MELA-AU 15 80414285 80414285 single base substitution C T downstream_gene_variant MELA-AU 15 80414285 80414285 single base substitution C T intron_variant MELA-AU 15 80414345 80414345 single base substitution T C downstream_gene_variant MELA-AU 15 80414345 80414345 single base substitution T C intron_variant MELA-AU 15 80414421 80414422 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 15 80414421 80414422 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 15 80415103 80415103 single base substitution T C downstream_gene_variant MELA-AU 15 80415103 80415103 single base substitution T C exon_variant MELA-AU 15 80415103 80415103 single base substitution T C missense_variant S109P 325T>C MELA-AU 15 80415103 80415103 single base substitution T C missense_variant S124P 370T>C MELA-AU 15 80415103 80415103 single base substitution T C missense_variant S125P 373T>C MELA-AU 15 80415103 80415103 single base substitution T C missense_variant S97P 289T>C MELA-AU 15 80415130 80415130 single base substitution G A downstream_gene_variant MELA-AU 15 80415130 80415130 single base substitution G A exon_variant MELA-AU 15 80415130 80415130 single base substitution G A missense_variant E106K 316G>A MELA-AU 15 80415130 80415130 single base substitution G A missense_variant E118K 352G>A MELA-AU 15 80415130 80415130 single base substitution G A missense_variant E133K 397G>A MELA-AU 15 80415130 80415130 single base substitution G A missense_variant E134K 400G>A MELA-AU 15 80416281 80416281 single base substitution C T downstream_gene_variant MELA-AU 15 80416281 80416281 single base substitution C T intron_variant MELA-AU 15 80416650 80416650 single base substitution C T downstream_gene_variant MELA-AU 15 80416650 80416650 single base substitution C T intron_variant MELA-AU 15 80417659 80417659 single base substitution C T downstream_gene_variant MELA-AU 15 80417659 80417659 single base substitution C T intron_variant MELA-AU 15 80417659 80417659 single base substitution C T upstream_gene_variant MELA-AU 15 80417703 80417703 single base substitution C T downstream_gene_variant MELA-AU 15 80417703 80417703 single base substitution C T intron_variant MELA-AU 15 80417703 80417703 single base substitution C T upstream_gene_variant MELA-AU 15 80419007 80419007 single base substitution G A downstream_gene_variant MELA-AU 15 80419007 80419007 single base substitution G A intron_variant MELA-AU 15 80419007 80419007 single base substitution G A upstream_gene_variant MELA-AU 15 80419537 80419537 single base substitution A G downstream_gene_variant MELA-AU 15 80419537 80419537 single base substitution A G intron_variant MELA-AU 15 80419537 80419537 single base substitution A G upstream_gene_variant MELA-AU 15 80419947 80419947 single base substitution A C downstream_gene_variant MELA-AU 15 80419947 80419947 single base substitution A C intron_variant MELA-AU 15 80419947 80419947 single base substitution A C upstream_gene_variant MELA-AU 15 80420017 80420017 single base substitution C T downstream_gene_variant MELA-AU 15 80420017 80420017 single base substitution C T intron_variant MELA-AU 15 80420017 80420017 single base substitution C T upstream_gene_variant MELA-AU 15 80420672 80420672 single base substitution C T intron_variant MELA-AU 15 80420672 80420672 single base substitution C T upstream_gene_variant MELA-AU 15 80420911 80420911 single base substitution A G intron_variant MELA-AU 15 80420911 80420911 single base substitution A G upstream_gene_variant MELA-AU 15 80421659 80421660 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 15 80421659 80421660 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 15 80422624 80422624 single base substitution C T exon_variant MELA-AU 15 80422624 80422624 single base substitution C T intron_variant MELA-AU 15 80423505 80423505 single base substitution C T exon_variant MELA-AU 15 80423505 80423505 single base substitution C T intron_variant MELA-AU 15 80423508 80423508 single base substitution C T exon_variant MELA-AU 15 80423508 80423508 single base substitution C T intron_variant MELA-AU 15 80425036 80425036 single base substitution C T downstream_gene_variant MELA-AU 15 80425036 80425036 single base substitution C T intron_variant MELA-AU 15 80426250 80426250 single base substitution C T downstream_gene_variant MELA-AU 15 80426250 80426250 single base substitution C T intron_variant MELA-AU 15 80426480 80426481 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 15 80426480 80426481 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80426528 80426528 single base substitution C T downstream_gene_variant MELA-AU 15 80426528 80426528 single base substitution C T intron_variant MELA-AU 15 80427018 80427018 single base substitution A G downstream_gene_variant MELA-AU 15 80427018 80427018 single base substitution A G intron_variant MELA-AU 15 80428310 80428310 single base substitution T A downstream_gene_variant MELA-AU 15 80428310 80428310 single base substitution T A intron_variant MELA-AU 15 80428315 80428315 single base substitution A T downstream_gene_variant MELA-AU 15 80428315 80428315 single base substitution A T intron_variant MELA-AU 15 80428395 80428395 single base substitution G A downstream_gene_variant MELA-AU 15 80428395 80428395 single base substitution G A intron_variant MELA-AU 15 80428689 80428690 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 15 80428689 80428690 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 80429454 80429454 single base substitution C T intron_variant MELA-AU 15 80429678 80429678 single base substitution A G intron_variant MELA-AU 15 80430136 80430136 single base substitution C T 3_prime_UTR_variant MELA-AU 15 80430136 80430136 single base substitution C T downstream_gene_variant MELA-AU 15 80430136 80430136 single base substitution C T exon_variant MELA-AU 15 80430137 80430137 single base substitution C T 3_prime_UTR_variant MELA-AU 15 80430137 80430137 single base substitution C T downstream_gene_variant MELA-AU 15 80430137 80430137 single base substitution C T exon_variant MELA-AU 15 80430345 80430345 single base substitution C A 3_prime_UTR_variant MELA-AU 15 80430345 80430345 single base substitution C A downstream_gene_variant MELA-AU 15 80430345 80430345 single base substitution C A exon_variant MELA-AU 15 80430764 80430764 single base substitution T C downstream_gene_variant MELA-AU 15 80430883 80430883 single base substitution C A downstream_gene_variant MELA-AU 15 80432654 80432654 single base substitution G A downstream_gene_variant MELA-AU 15 80433704 80433704 single base substitution C T downstream_gene_variant MELA-AU 15 80435173 80435173 single base substitution C T downstream_gene_variant ORCA-IN 15 80348521 80348521 single base substitution C G upstream_gene_variant ORCA-IN 15 80350339 80350339 single base substitution C T upstream_gene_variant ORCA-IN 15 80366735 80366735 single base substitution C T intron_variant ORCA-IN 15 80366735 80366735 single base substitution C T upstream_gene_variant ORCA-IN 15 80384690 80384690 single base substitution A T intron_variant ORCA-IN 15 80390140 80390140 single base substitution C G intron_variant ORCA-IN 15 80391669 80391669 single base substitution C G intron_variant ORCA-IN 15 80392032 80392032 single base substitution C A intron_variant ORCA-IN 15 80396882 80396882 single base substitution C A intron_variant ORCA-IN 15 80398971 80398971 single base substitution G C intron_variant ORCA-IN 15 80407732 80407732 single base substitution C T intron_variant ORCA-IN 15 80410380 80410380 single base substitution A G intron_variant ORCA-IN 15 80410380 80410380 single base substitution A G upstream_gene_variant ORCA-IN 15 80435208 80435208 single base substitution G C downstream_gene_variant OV-AU 15 80352418 80352418 single base substitution G C intron_variant OV-AU 15 80352418 80352418 single base substitution G C upstream_gene_variant OV-AU 15 80366539 80366539 single base substitution G C intron_variant OV-AU 15 80366539 80366539 single base substitution G C upstream_gene_variant OV-AU 15 80379540 80379540 single base substitution G T intron_variant OV-AU 15 80381109 80381109 single base substitution G A intron_variant OV-AU 15 80381820 80381820 single base substitution A G intron_variant OV-AU 15 80383989 80383989 single base substitution C T intron_variant OV-AU 15 80391851 80391851 single base substitution C A intron_variant OV-AU 15 80393027 80393027 single base substitution C T intron_variant OV-AU 15 80394259 80394259 single base substitution G C intron_variant OV-AU 15 80395140 80395140 single base substitution G A intron_variant OV-AU 15 80396540 80396540 single base substitution G A intron_variant OV-AU 15 80404632 80404632 single base substitution G C intron_variant OV-AU 15 80410079 80410079 single base substitution T G intron_variant OV-AU 15 80410079 80410079 single base substitution T G upstream_gene_variant OV-AU 15 80416330 80416330 single base substitution C T downstream_gene_variant OV-AU 15 80416330 80416330 single base substitution C T intron_variant OV-AU 15 80419482 80419482 single base substitution A G downstream_gene_variant OV-AU 15 80419482 80419482 single base substitution A G intron_variant OV-AU 15 80419482 80419482 single base substitution A G upstream_gene_variant OV-AU 15 80419944 80419944 single base substitution A C downstream_gene_variant OV-AU 15 80419944 80419944 single base substitution A C intron_variant OV-AU 15 80419944 80419944 single base substitution A C upstream_gene_variant OV-AU 15 80424932 80424932 single base substitution A C downstream_gene_variant OV-AU 15 80424932 80424932 single base substitution A C intron_variant OV-AU 15 80425333 80425333 single base substitution C G downstream_gene_variant OV-AU 15 80425333 80425333 single base substitution C G intron_variant OV-AU 15 80431232 80431232 single base substitution G A downstream_gene_variant PACA-AU 15 80347348 80347348 single base substitution G C upstream_gene_variant PACA-AU 15 80349470 80349470 single base substitution C T upstream_gene_variant PACA-AU 15 80354627 80354627 single base substitution G T intron_variant PACA-AU 15 80373704 80373704 single base substitution G A intron_variant PACA-AU 15 80384743 80384743 single base substitution A T intron_variant PACA-AU 15 80389637 80389637 single base substitution C T intron_variant PACA-AU 15 80394290 80394290 single base substitution A G intron_variant PACA-AU 15 80395334 80395334 single base substitution T G intron_variant PACA-AU 15 80401227 80401227 single base substitution G A intron_variant PACA-AU 15 80401773 80401774 deletion of <=200bp GA - intron_variant PACA-AU 15 80404325 80404325 single base substitution G C intron_variant PACA-AU 15 80407626 80407626 single base substitution T C intron_variant PACA-AU 15 80415089 80415089 single base substitution A G downstream_gene_variant PACA-AU 15 80415089 80415089 single base substitution A G exon_variant PACA-AU 15 80415089 80415089 single base substitution A G missense_variant Q104R 311A>G PACA-AU 15 80415089 80415089 single base substitution A G missense_variant Q119R 356A>G PACA-AU 15 80415089 80415089 single base substitution A G missense_variant Q120R 359A>G PACA-AU 15 80415089 80415089 single base substitution A G missense_variant Q92R 275A>G PACA-AU 15 80416442 80416442 insertion of <=200bp - A downstream_gene_variant PACA-AU 15 80416442 80416442 insertion of <=200bp - A intron_variant PACA-AU 15 80416875 80416875 single base substitution A G downstream_gene_variant PACA-AU 15 80416875 80416875 single base substitution A G intron_variant PACA-AU 15 80421358 80421358 single base substitution C G intron_variant PACA-AU 15 80421358 80421358 single base substitution C G upstream_gene_variant PACA-AU 15 80423063 80423063 single base substitution C G exon_variant PACA-AU 15 80423063 80423063 single base substitution C G intron_variant PACA-AU 15 80435301 80435301 single base substitution A G downstream_gene_variant PACA-AU 15 80435732 80435732 single base substitution T A downstream_gene_variant PACA-CA 15 80348612 80348612 single base substitution A T upstream_gene_variant PACA-CA 15 80354407 80354407 single base substitution C G intron_variant PACA-CA 15 80357803 80357803 single base substitution T C intron_variant PACA-CA 15 80358533 80358536 deletion of <=200bp TAAA - intron_variant PACA-CA 15 80364170 80364170 single base substitution T G intron_variant PACA-CA 15 80364170 80364170 single base substitution T G upstream_gene_variant PACA-CA 15 80370324 80370324 single base substitution A G intron_variant PACA-CA 15 80371586 80371586 single base substitution G A intron_variant PACA-CA 15 80377969 80377969 single base substitution A T intron_variant PACA-CA 15 80378413 80378413 single base substitution T A intron_variant PACA-CA 15 80378799 80378799 single base substitution G C intron_variant PACA-CA 15 80388864 80388864 single base substitution A C intron_variant PACA-CA 15 80390014 80390014 insertion of <=200bp - C intron_variant PACA-CA 15 80390015 80390015 single base substitution A C intron_variant PACA-CA 15 80395709 80395709 single base substitution G T intron_variant PACA-CA 15 80398298 80398298 single base substitution T G intron_variant PACA-CA 15 80401256 80401256 single base substitution G C intron_variant PACA-CA 15 80402751 80402751 single base substitution A T intron_variant PACA-CA 15 80405881 80405881 single base substitution A T intron_variant PACA-CA 15 80408559 80408559 single base substitution G A intron_variant PACA-CA 15 80410923 80410923 single base substitution T C intron_variant PACA-CA 15 80410923 80410923 single base substitution T C upstream_gene_variant PACA-CA 15 80418131 80418131 single base substitution A G downstream_gene_variant PACA-CA 15 80418131 80418131 single base substitution A G intron_variant PACA-CA 15 80418131 80418131 single base substitution A G upstream_gene_variant PACA-CA 15 80419945 80419945 single base substitution A C downstream_gene_variant PACA-CA 15 80419945 80419945 single base substitution A C intron_variant PACA-CA 15 80419945 80419945 single base substitution A C upstream_gene_variant PACA-CA 15 80421114 80421114 single base substitution C T intron_variant PACA-CA 15 80421114 80421114 single base substitution C T upstream_gene_variant PACA-CA 15 80422087 80422087 single base substitution G T exon_variant PACA-CA 15 80422087 80422087 single base substitution G T intron_variant PACA-CA 15 80431175 80431175 insertion of <=200bp - CATATAAAAC downstream_gene_variant PACA-CA 15 80431177 80431177 insertion of <=200bp - ATGACAAAAAAAATTATATT downstream_gene_variant PAEN-AU 15 80347714 80347714 single base substitution G T upstream_gene_variant PAEN-AU 15 80363608 80363608 single base substitution A G intron_variant PAEN-AU 15 80363608 80363608 single base substitution A G upstream_gene_variant PAEN-AU 15 80388012 80388012 single base substitution G C intron_variant PAEN-AU 15 80410359 80410359 insertion of <=200bp - TG intron_variant PAEN-AU 15 80410359 80410359 insertion of <=200bp - TG upstream_gene_variant PAEN-IT 15 80374006 80374006 single base substitution C A intron_variant PAEN-IT 15 80389117 80389117 single base substitution A G intron_variant PBCA-DE 15 80347940 80347940 single base substitution C T upstream_gene_variant PBCA-DE 15 80356950 80356951 deletion of <=200bp AC - intron_variant PBCA-DE 15 80367886 80367886 single base substitution G A intron_variant PBCA-DE 15 80372150 80372150 single base substitution G C intron_variant PBCA-DE 15 80373688 80373688 single base substitution A G intron_variant PBCA-DE 15 80407396 80407396 single base substitution C T 5_prime_UTR_variant PBCA-DE 15 80407396 80407396 single base substitution C T intron_variant PBCA-DE 15 80413845 80413845 single base substitution G A downstream_gene_variant PBCA-DE 15 80413845 80413845 single base substitution G A intron_variant PBCA-DE 15 80413845 80413845 single base substitution G A upstream_gene_variant PBCA-DE 15 80435663 80435663 insertion of <=200bp - A downstream_gene_variant PRAD-CA 15 80347174 80347174 single base substitution G A upstream_gene_variant PRAD-CA 15 80358947 80358947 single base substitution G A intron_variant PRAD-CA 15 80360477 80360477 single base substitution T G intron_variant PRAD-CA 15 80360477 80360477 single base substitution T G upstream_gene_variant PRAD-CA 15 80366795 80366795 single base substitution A G intron_variant PRAD-CA 15 80366795 80366795 single base substitution A G upstream_gene_variant PRAD-CA 15 80373429 80373429 single base substitution C G intron_variant PRAD-CA 15 80410380 80410380 single base substitution A G intron_variant PRAD-CA 15 80410380 80410380 single base substitution A G upstream_gene_variant PRAD-UK 15 80360141 80360141 single base substitution A G intron_variant PRAD-UK 15 80360141 80360141 single base substitution A G upstream_gene_variant PRAD-UK 15 80363677 80363679 deletion of <=200bp AAG - intron_variant PRAD-UK 15 80363677 80363679 deletion of <=200bp AAG - upstream_gene_variant PRAD-UK 15 80370545 80370545 single base substitution G A intron_variant PRAD-UK 15 80374039 80374039 single base substitution A G intron_variant PRAD-UK 15 80377226 80377254 deletion of <=200bp CCTAATTAAGAATTTTTAAGTCGGTTAAT - intron_variant PRAD-UK 15 80390972 80390972 single base substitution A T intron_variant PRAD-UK 15 80410311 80410311 single base substitution T G intron_variant PRAD-UK 15 80410311 80410311 single base substitution T G upstream_gene_variant PRAD-UK 15 80413970 80413970 single base substitution G A downstream_gene_variant PRAD-UK 15 80413970 80413970 single base substitution G A intron_variant PRAD-UK 15 80413970 80413970 single base substitution G A upstream_gene_variant PRAD-UK 15 80416442 80416442 deletion of <=200bp A - downstream_gene_variant PRAD-UK 15 80416442 80416442 deletion of <=200bp A - intron_variant RECA-EU 15 80348637 80348637 single base substitution G C upstream_gene_variant RECA-EU 15 80370837 80370837 single base substitution T A intron_variant RECA-EU 15 80390911 80390911 single base substitution C G 5_prime_UTR_variant RECA-EU 15 80390911 80390911 single base substitution C G intron_variant RECA-EU 15 80394293 80394293 single base substitution C T intron_variant RECA-EU 15 80398613 80398613 single base substitution C T intron_variant RECA-EU 15 80408859 80408859 single base substitution T A intron_variant RECA-EU 15 80410029 80410029 single base substitution C T intron_variant RECA-EU 15 80410029 80410029 single base substitution C T upstream_gene_variant RECA-EU 15 80414326 80414326 single base substitution T A downstream_gene_variant RECA-EU 15 80414326 80414326 single base substitution T A intron_variant RECA-EU 15 80414475 80414475 single base substitution G A downstream_gene_variant RECA-EU 15 80414475 80414475 single base substitution G A intron_variant RECA-EU 15 80415846 80415846 single base substitution G A downstream_gene_variant RECA-EU 15 80415846 80415846 single base substitution G A intron_variant RECA-EU 15 80419176 80419176 single base substitution C T downstream_gene_variant RECA-EU 15 80419176 80419176 single base substitution C T intron_variant RECA-EU 15 80419176 80419176 single base substitution C T upstream_gene_variant RECA-EU 15 80428177 80428177 single base substitution T A downstream_gene_variant RECA-EU 15 80428177 80428177 single base substitution T A intron_variant RECA-EU 15 80430589 80430589 single base substitution C A 3_prime_UTR_variant RECA-EU 15 80430589 80430589 single base substitution C A downstream_gene_variant RECA-EU 15 80430589 80430589 single base substitution C A exon_variant RECA-EU 15 80433468 80433468 single base substitution A G downstream_gene_variant RECA-EU 15 80434718 80434718 single base substitution T A downstream_gene_variant SKCA-BR 15 80348815 80348815 single base substitution A C upstream_gene_variant SKCA-BR 15 80350544 80350544 single base substitution C T upstream_gene_variant SKCA-BR 15 80351575 80351575 single base substitution T G upstream_gene_variant SKCA-BR 15 80351745 80351745 single base substitution A C upstream_gene_variant SKCA-BR 15 80352197 80352197 single base substitution T C intron_variant SKCA-BR 15 80352197 80352197 single base substitution T C upstream_gene_variant SKCA-BR 15 80352532 80352532 single base substitution T G intron_variant SKCA-BR 15 80352532 80352532 single base substitution T G upstream_gene_variant SKCA-BR 15 80354132 80354132 single base substitution A G intron_variant SKCA-BR 15 80362096 80362096 single base substitution A C intron_variant SKCA-BR 15 80362096 80362096 single base substitution A C upstream_gene_variant SKCA-BR 15 80362192 80362192 single base substitution A C intron_variant SKCA-BR 15 80362192 80362192 single base substitution A C upstream_gene_variant SKCA-BR 15 80363086 80363086 single base substitution C T intron_variant SKCA-BR 15 80363086 80363086 single base substitution C T upstream_gene_variant SKCA-BR 15 80370039 80370039 single base substitution C T intron_variant SKCA-BR 15 80371654 80371654 single base substitution C T intron_variant SKCA-BR 15 80371708 80371708 single base substitution A C intron_variant SKCA-BR 15 80371991 80371991 insertion of <=200bp - CTT intron_variant SKCA-BR 15 80373165 80373165 single base substitution A T intron_variant SKCA-BR 15 80377801 80377801 single base substitution C T intron_variant SKCA-BR 15 80386428 80386428 single base substitution A T intron_variant SKCA-BR 15 80391381 80391381 single base substitution T A intron_variant SKCA-BR 15 80397616 80397616 single base substitution C T intron_variant SKCA-BR 15 80399551 80399551 single base substitution C T intron_variant SKCA-BR 15 80409569 80409569 insertion of <=200bp - CT intron_variant SKCA-BR 15 80409569 80409569 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 15 80411999 80411999 single base substitution C T intron_variant SKCA-BR 15 80411999 80411999 single base substitution C T upstream_gene_variant SKCA-BR 15 80424992 80424992 single base substitution C T downstream_gene_variant SKCA-BR 15 80424992 80424992 single base substitution C T intron_variant SKCA-BR 15 80430511 80430511 single base substitution G A 3_prime_UTR_variant SKCA-BR 15 80430511 80430511 single base substitution G A downstream_gene_variant SKCA-BR 15 80430511 80430511 single base substitution G A exon_variant SKCA-BR 15 80430669 80430669 single base substitution T G 3_prime_UTR_variant SKCA-BR 15 80430669 80430669 single base substitution T G downstream_gene_variant SKCA-BR 15 80430669 80430669 single base substitution T G exon_variant SKCA-BR 15 80433616 80433616 single base substitution T C downstream_gene_variant SKCA-BR 15 80433625 80433625 single base substitution T C downstream_gene_variant SKCM-US 15 80414107 80414107 single base substitution A G downstream_gene_variant SKCM-US 15 80414107 80414107 single base substitution A G exon_variant SKCM-US 15 80414107 80414107 single base substitution A G missense_variant S58G 172A>G SKCM-US 15 80414107 80414107 single base substitution A G missense_variant S70G 208A>G SKCM-US 15 80414107 80414107 single base substitution A G missense_variant S85G 253A>G SKCM-US 15 80414107 80414107 single base substitution A G missense_variant S86G 256A>G SKCM-US 15 80429862 80429862 single base substitution C T exon_variant SKCM-US 15 80429862 80429862 single base substitution C T synonymous_variant H135H 405C>T SKCM-US 15 80429862 80429862 single base substitution C T synonymous_variant H161H 483C>T SKCM-US 15 80429862 80429862 single base substitution C T synonymous_variant H173H 519C>T SKCM-US 15 80429888 80429888 single base substitution C T exon_variant SKCM-US 15 80429888 80429888 single base substitution C T missense_variant S144F 431C>T SKCM-US 15 80429888 80429888 single base substitution C T missense_variant S170F 509C>T SKCM-US 15 80429888 80429888 single base substitution C T missense_variant S182F 545C>T SKCM-US 15 80429958 80429958 single base substitution C T downstream_gene_variant SKCM-US 15 80429958 80429958 single base substitution C T exon_variant SKCM-US 15 80429958 80429958 single base substitution C T synonymous_variant I193I 579C>T SKCM-US 15 80429958 80429958 single base substitution C T synonymous_variant I205I 615C>T STAD-US 15 80412779 80412779 single base substitution A G downstream_gene_variant STAD-US 15 80412779 80412779 single base substitution A G exon_variant STAD-US 15 80412779 80412779 single base substitution A G synonymous_variant S31S 93A>G STAD-US 15 80412779 80412779 single base substitution A G synonymous_variant S46S 138A>G STAD-US 15 80412779 80412779 single base substitution A G synonymous_variant S47S 141A>G STAD-US 15 80412779 80412779 single base substitution A G upstream_gene_variant STAD-US 15 80414053 80414053 single base substitution G A downstream_gene_variant STAD-US 15 80414053 80414053 single base substitution G A intron_variant STAD-US 15 80414053 80414053 single base substitution G A splice_acceptor_variant STAD-US 15 80414053 80414053 single base substitution G A upstream_gene_variant STAD-US 15 80423565 80423565 single base substitution C T exon_variant STAD-US 15 80423565 80423565 single base substitution C T intron_variant STAD-US 15 80423565 80423565 single base substitution C T synonymous_variant S124S 372C>T STAD-US 15 80423565 80423565 single base substitution C T synonymous_variant S136S 408C>T STAD-US 15 80423565 80423565 single base substitution C T synonymous_variant S151S 453C>T STAD-US 15 80423565 80423565 single base substitution C T synonymous_variant S152S 456C>T STAD-US 15 80423588 80423588 insertion of <=200bp - A downstream_gene_variant STAD-US 15 80423588 80423588 insertion of <=200bp - A exon_variant STAD-US 15 80423588 80423588 insertion of <=200bp - A frameshift_variant Q132Q? STAD-US 15 80423588 80423588 insertion of <=200bp - A frameshift_variant Q144Q? STAD-US 15 80423588 80423588 insertion of <=200bp - A frameshift_variant Q159Q? STAD-US 15 80423588 80423588 insertion of <=200bp - A intron_variant STAD-US 15 80429859 80429859 single base substitution A G exon_variant STAD-US 15 80429859 80429859 single base substitution A G synonymous_variant V134V 402A>G STAD-US 15 80429859 80429859 single base substitution A G synonymous_variant V160V 480A>G STAD-US 15 80429859 80429859 single base substitution A G synonymous_variant V172V 516A>G UCEC-US 15 80423599 80423599 single base substitution C T downstream_gene_variant UCEC-US 15 80423599 80423599 single base substitution C T exon_variant UCEC-US 15 80423599 80423599 single base substitution C T intron_variant UCEC-US 15 80423599 80423599 single base substitution C T missense_variant R136C 406C>T UCEC-US 15 80423599 80423599 single base substitution C T missense_variant R148C 442C>T UCEC-US 15 80423599 80423599 single base substitution C T missense_variant R163C 487C>T UCEC-US 15 80429841 80429841 single base substitution A C exon_variant UCEC-US 15 80429841 80429841 single base substitution A C synonymous_variant G128G 384A>C UCEC-US 15 80429841 80429841 single base substitution A C synonymous_variant G154G 462A>C UCEC-US 15 80429841 80429841 single base substitution A C synonymous_variant G166G 498A>C UCEC-US 15 80429912 80429912 single base substitution C T downstream_gene_variant UCEC-US 15 80429912 80429912 single base substitution C T exon_variant UCEC-US 15 80429912 80429912 single base substitution C T missense_variant A178V 533C>T UCEC-US 15 80429912 80429912 single base substitution C T missense_variant A190V 569C>T UCEC-US 15 80429946 80429946 single base substitution T C downstream_gene_variant UCEC-US 15 80429946 80429946 single base substitution T C exon_variant UCEC-US 15 80429946 80429946 single base substitution T C synonymous_variant V189V 567T>C UCEC-US 15 80429946 80429946 single base substitution T C synonymous_variant V201V 603T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-F00282 COSM367143 c.509G>A p.C170Y Substitution - Missense 15:80137510-80137510 + Pat_11_A COSM5849876 c.514G>A p.V172I Substitution - Missense 15:80137515-80137515 + TCGA-AA-3715-01 COSM270582 c.387G>A p.Q129Q Substitution - coding silent 15:80131202-80131202 + TCGA-BR-4184-01 COSM4057230 c.408C>T p.S136S Substitution - coding silent 15:80131223-80131223 + 2492702 COSM5715886 c.458G>A p.R153K Substitution - Missense 15:80131273-80131273 + TCGA-DR-A0ZM-01 COSM458949 c.397G>A p.E133K Substitution - Missense 15:80131212-80131212 + TCGA-B2-5635-01 COSM471135 c.485A>C p.E162A Substitution - Missense 15:80137486-80137486 + TCGA-CA-6717-01 COSM1374876 c.426G>A p.P142P Substitution - coding silent 15:80131241-80131241 + PT13 COSM5896270 c.476C>T p.T159I Substitution - Missense 15:80131291-80131291 + 08-P1177 COSM4578535 c.129T>C p.S43S Substitution - coding silent 15:80120473-80120473 + TCGA-EE-A2MS-06 COSM3504438 c.615C>T p.I205I Substitution - coding silent 15:80137616-80137616 + PT23_2 COSM5903893 c.314T>G p.L105W Substitution - Missense 15:80122750-80122750 + TCGA-D3-A2JO-06 COSM3504436 c.519C>T p.H173H Substitution - coding silent 15:80137520-80137520 + TCGA-EE-A29D-06 COSM3504437 c.545C>T p.S182F Substitution - Missense 15:80137546-80137546 + TCGA-D3-A2JO-06 COSM3504435 c.208A>G p.S70G Substitution - Missense 15:80121765-80121765 + TCGA-CD-8536-01 COSM4057228 c.93A>G p.S31S Substitution - coding silent 15:80120437-80120437 + TCGA-G2-A3IE-01 COSM458949 c.397G>A p.E133K Substitution - Missense 15:80131212-80131212 + TCGA-AP-A0LM-01 COSM965498 c.442C>T p.R148C Substitution - Missense 15:80131257-80131257 + TCGA-BR-7851-01 COSM4057229 c.155-1G>A p.? Unknown 15:80121711-80121711 + TCGA-D1-A177-01 COSM965500 c.569C>T p.A190V Substitution - Missense 15:80137570-80137570 + TCGA-56-6545-01 COSM701665 c.379A>G p.T127A Substitution - Missense 15:80131194-80131194 + TCGA-66-2763-01 COSM701664 c.461A>G p.K154R Substitution - Missense 15:80131276-80131276 + PT35 COSM5913727 c.479-4C>T p.? Unknown 15:80137476-80137476 + TCGA-AX-A0IU-01 COSM965499 c.498A>C p.G166G Substitution - coding silent 15:80137499-80137499 + 2492703 COSM5715886 c.458G>A p.R153K Substitution - Missense 15:80131273-80131273 + TCGA-B5-A0JY-01 COSM965501 c.603T>C p.V201V Substitution - coding silent 15:80137604-80137604 + 2318492 COSM4776960 c.245C>T p.S82F Substitution - Missense 15:80121802-80121802 + LC_S40 COSM1189080 c.424C>G p.P142A Substitution - Missense 15:80131239-80131239 + YUSCA COSM3504436 c.519C>T p.H173H Substitution - coding silent 15:80137520-80137520 + TCGA-CG-5721-01 COSM2011598 c.516A>G p.V172V Substitution - coding silent 15:80137517-80137517 + TCGA-18-3409-01 COSM701666 c.283C>T p.L95F Substitution - Missense 15:80122719-80122719 + TCGA-61-1998-01 COSM119028 c.264-1G>C p.? Unknown 15:80122699-80122699 + sysucc-1317T COSM5448772 c.521G>A p.R174H Substitution - Missense 15:80137522-80137522 + 2492701 COSM5715886 c.458G>A p.R153K Substitution - Missense 15:80131273-80131273 + LP6007533-DNA_A01 COSM5037257 c.555C>A p.Y185* Substitution - Nonsense 15:80137556-80137556 + 2492700 COSM5715886 c.458G>A p.R153K Substitution - Missense 15:80131273-80131273 + 2293782 COSM4608563 c.601G>T p.V201F Substitution - Missense 15:80137602-80137602 + Pat_16_B COSM5849875 c.209G>A p.S70N Substitution - Missense 15:80121766-80121766 + T368 COSM4742498 c.50G>A p.G17D Substitution - Missense 15:80120394-80120394 + LUAD-RT-S01699 COSM378205 c.46A>T p.T16S Substitution - Missense 15:80120390-80120390 + 8031544 COSM3387082 c.311A>G p.Q104R Substitution - Missense 15:80122747-80122747 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.596674;Hs.596676;Hs.596677;Hs.596679 15q25.1 610183 2396726|CGAP|BC005283|A/G|coding|Glu203Lys|917|Candidate Hs.743245 15q25.1 610183 2396726|CGAP|BC005283|A/G|coding|Glu203Lys|917|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G166G c.498A>C 15 80429841 UCEC A G Missense p.K154R c.461A>G 15 80423618 LUSC A G Missense p.S70G c.208A>G 15 80414107 CM A G Missense p.T127A c.379A>G 15 80423536 LUSC A T IntronicSNV . c.365-601A>T 15 80422921 HC C T IntronicSNV . c.1-5291C>T 15 80407396 MB C T Missense p.A190V c.569C>T 15 80429912 UCEC C T Missense p.S123L c.368C>T 15 80423525 HNSC C T Synonymous p.H173H c.519C>T 15 80429862 CM C T Synonymous p.I205I c.615C>T 15 80429958 CM G A Missense p.E133K c.397G>A 15 80423554 BLCA G C SpliceAcceptorSNV . c.264-1G>C 15 80415041 OV G T IntronicSNV . c.365-693G>T 15 80422829 HC T G Missense p.C18G c.52T>G 15 80412738 HNSC