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 1 31210457 31210457 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:31210457G>C c.600C>G c.(598-600)atC>atG p.I200M BLCA 1 31230535 31230535 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:31230535C>T c.58G>A c.(58-60)Gca>Aca p.A20T BRCA 1 31212718 31212718 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:31212718T>G c.325A>C c.(325-327)Acc>Ccc p.T109P COAD 1 31206723 31206723 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:31206723C>T c.741G>A c.(739-741)tcG>tcA p.S247S COAD 1 31210496 31210496 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:31210496C>A c.561G>T c.(559-561)atG>atT p.M187I COADREAD 1 31206723 31206723 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:31206723C>T c.741G>A c.(739-741)tcG>tcA p.S247S COADREAD 1 31210496 31210496 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:31210496C>A c.561G>T c.(559-561)atG>atT p.M187I ESCA 1 31211805 31211805 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:31211805G>C c.492C>G c.(490-492)ttC>ttG p.F164L ESCA 1 31211879 31211879 + Missense_Mutation SNP G G T TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr1:31211879G>T c.418C>A c.(418-420)Cag>Aag p.Q140K GBM 1 31210478 31210478 + Silent SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr1:31210478G>A c.579C>T c.(577-579)atC>atT p.I193I GBMLGG 1 31210478 31210478 + Silent SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr1:31210478G>A c.579C>T c.(577-579)atC>atT p.I193I GBMLGG 1 31211793 31211793 + Missense_Mutation SNP G G T TCGA-E1-A7YD-01A-11D-A34A-08 TCGA-E1-A7YD-10A-01D-A34A-08 g.chr1:31211793G>T c.504C>A c.(502-504)aaC>aaA p.N168K HNSC 1 31210496 31210496 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr1:31210496C>A c.561G>T c.(559-561)atG>atT p.M187I HNSC 1 31212769 31212769 + Silent SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 g.chr1:31212769G>A c.274C>T c.(274-276)Ctg>Ttg p.L92L LGG 1 31211793 31211793 + Missense_Mutation SNP G G T TCGA-E1-A7YD-01A-11D-A34A-08 TCGA-E1-A7YD-10A-01D-A34A-08 g.chr1:31211793G>T c.504C>A c.(502-504)aaC>aaA p.N168K LIHC 1 31208055 31208055 + Missense_Mutation SNP C C A TCGA-CC-A5UE-01A-11D-A28X-10 TCGA-CC-A5UE-10A-01D-A28X-10 g.chr1:31208055C>A c.664G>T c.(664-666)Gtg>Ttg p.V222L LIHC 1 31210494 31210494 + Missense_Mutation SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr1:31210494A>T c.563T>A c.(562-564)aTg>aAg p.M188K LIHC 1 31215394 31215394 + Missense_Mutation SNP G G C TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr1:31215394G>C c.90C>G c.(88-90)atC>atG p.I30M LUAD 1 31210499 31210499 + Missense_Mutation SNP C C G TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr1:31210499C>G c.558G>C c.(556-558)aaG>aaC p.K186N LUAD 1 31211800 31211800 + Missense_Mutation SNP G G A TCGA-50-5051-01A-21D-1855-08 TCGA-50-5051-10A-01D-1855-08 g.chr1:31211800G>A c.497C>T c.(496-498)tCc>tTc p.S166F LUAD 1 31212778 31212778 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:31212778C>T c.265G>A c.(265-267)Gag>Aag p.E89K LUAD 1 31230511 31230511 + Missense_Mutation SNP G G C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:31230511G>C c.82C>G c.(82-84)Cat>Gat p.H28D LUAD 1 31230536 31230536 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr1:31230536G>A c.57C>T c.(55-57)atC>atT p.I19I LUSC 1 31208107 31208107 + Nonsense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:31208107G>T c.612C>A c.(610-612)taC>taA p.Y204* LUSC 1 31212756 31212756 + Missense_Mutation SNP A A G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr1:31212756A>G c.287T>C c.(286-288)cTg>cCg p.L96P LUSC 1 31214487 31214487 + Splice_Site SNP C C G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr1:31214487C>G c.258G>C c.(256-258)aaG>aaC p.K86N PAAD 1 31208047 31208047 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:31208047C>A c.672G>T c.(670-672)gaG>gaT p.E224D PAAD 1 31211857 31211857 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:31211857C>A c.440G>T c.(439-441)aGc>aTc p.S147I PAAD 1 31230535 31230535 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:31230535C>T c.58G>A c.(58-60)Gca>Aca p.A20T SARC 1 31210526 31210526 + Silent SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 g.chr1:31210526C>T c.531G>A c.(529-531)gaG>gaA p.E177E SKCM 1 31206707 31206707 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:31206707C>T c.757G>A c.(757-759)Ggc>Agc p.G253S SKCM 1 31208062 31208062 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:31208062C>T c.657G>A c.(655-657)atG>atA p.M219I SKCM 1 31211796 31211796 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:31211796C>T c.501G>A c.(499-501)atG>atA p.M167I SKCM 1 31212743 31212743 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:31212743G>A c.300C>T c.(298-300)atC>atT p.I100I SKCM 1 31214502 31214502 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:31214502C>T c.243G>A c.(241-243)ctG>ctA p.L81L

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 1 31210457 31210457 single base substitution G C downstream_gene_variant BLCA-US 1 31210457 31210457 single base substitution G C exon_variant BLCA-US 1 31210457 31210457 single base substitution G C missense_variant I200M 600C>G BRCA-EU 1 31203967 31203967 single base substitution G A downstream_gene_variant BRCA-EU 1 31204872 31204872 single base substitution C G downstream_gene_variant BRCA-EU 1 31205308 31205308 single base substitution G A downstream_gene_variant BRCA-EU 1 31205775 31205775 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 31205775 31205775 single base substitution C T downstream_gene_variant BRCA-EU 1 31210678 31210678 single base substitution C T downstream_gene_variant BRCA-EU 1 31210678 31210678 single base substitution C T intron_variant BRCA-EU 1 31210769 31210769 single base substitution C T downstream_gene_variant BRCA-EU 1 31210769 31210769 single base substitution C T intron_variant BRCA-EU 1 31212193 31212193 single base substitution C T downstream_gene_variant BRCA-EU 1 31212193 31212193 single base substitution C T intron_variant BRCA-EU 1 31212769 31212769 single base substitution G A downstream_gene_variant BRCA-EU 1 31212769 31212769 single base substitution G A exon_variant BRCA-EU 1 31212769 31212769 single base substitution G A synonymous_variant L92L 274C>T BRCA-EU 1 31213381 31213381 single base substitution C T downstream_gene_variant BRCA-EU 1 31213381 31213381 single base substitution C T intron_variant BRCA-EU 1 31213441 31213441 single base substitution G A downstream_gene_variant BRCA-EU 1 31213441 31213441 single base substitution G A intron_variant BRCA-EU 1 31214308 31214308 single base substitution C T downstream_gene_variant BRCA-EU 1 31214308 31214308 single base substitution C T intron_variant BRCA-EU 1 31214310 31214310 single base substitution C T downstream_gene_variant BRCA-EU 1 31214310 31214310 single base substitution C T intron_variant BRCA-EU 1 31215194 31215194 single base substitution A G exon_variant BRCA-EU 1 31215194 31215194 single base substitution A G intron_variant BRCA-EU 1 31215979 31215979 single base substitution C T intron_variant BRCA-EU 1 31218686 31218686 single base substitution C T intron_variant BRCA-EU 1 31220201 31220201 single base substitution A G intron_variant BRCA-EU 1 31220201 31220201 single base substitution A G upstream_gene_variant BRCA-EU 1 31221002 31221002 single base substitution A G intron_variant BRCA-EU 1 31221002 31221002 single base substitution A G upstream_gene_variant BRCA-EU 1 31221572 31221572 single base substitution C A intron_variant BRCA-EU 1 31221572 31221572 single base substitution C A upstream_gene_variant BRCA-EU 1 31223656 31223656 single base substitution C T intron_variant BRCA-EU 1 31223656 31223656 single base substitution C T upstream_gene_variant BRCA-EU 1 31223851 31223851 single base substitution G C intron_variant BRCA-EU 1 31223851 31223851 single base substitution G C upstream_gene_variant BRCA-EU 1 31224257 31224257 single base substitution G C intron_variant BRCA-EU 1 31224411 31224411 single base substitution C A intron_variant BRCA-EU 1 31225866 31225866 single base substitution T C intron_variant BRCA-EU 1 31227655 31227655 single base substitution C G intron_variant BRCA-EU 1 31228701 31228701 single base substitution C A intron_variant BRCA-EU 1 31228798 31228798 single base substitution C G intron_variant BRCA-EU 1 31230542 31230542 single base substitution G T exon_variant BRCA-EU 1 31230542 31230542 single base substitution G T synonymous_variant V17V 51C>A BRCA-EU 1 31231831 31231831 single base substitution C A upstream_gene_variant BRCA-EU 1 31233534 31233534 single base substitution G C upstream_gene_variant BRCA-EU 1 31233935 31233935 single base substitution C T upstream_gene_variant BRCA-EU 1 31234046 31234046 single base substitution C G upstream_gene_variant BRCA-EU 1 31234328 31234328 single base substitution G T upstream_gene_variant BRCA-EU 1 31234823 31234823 single base substitution C A upstream_gene_variant BRCA-EU 1 31234929 31234929 single base substitution C G upstream_gene_variant BRCA-FR 1 31218686 31218686 single base substitution C T intron_variant BRCA-FR 1 31234328 31234328 single base substitution G T upstream_gene_variant BRCA-UK 1 31225866 31225866 single base substitution T C intron_variant BRCA-US 1 31212718 31212718 single base substitution T G downstream_gene_variant BRCA-US 1 31212718 31212718 single base substitution T G exon_variant BRCA-US 1 31212718 31212718 single base substitution T G missense_variant T109P 325A>C BTCA-JP 1 31206356 31206356 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 31206356 31206356 single base substitution C T downstream_gene_variant CLLE-ES 1 31217985 31217985 single base substitution A C intron_variant CLLE-ES 1 31226689 31226689 deletion of <=200bp A - intron_variant CLLE-ES 1 31229238 31229239 deletion of <=200bp CT - intron_variant CLLE-ES 1 31233383 31233383 single base substitution G A upstream_gene_variant COCA-CN 1 31212740 31212740 single base substitution C T downstream_gene_variant COCA-CN 1 31212740 31212740 single base substitution C T exon_variant COCA-CN 1 31212740 31212740 single base substitution C T missense_variant M101I 303G>A EOPC-DE 1 31203489 31203489 single base substitution G A downstream_gene_variant ESAD-UK 1 31200620 31200620 single base substitution G A downstream_gene_variant ESAD-UK 1 31202389 31202389 single base substitution G A downstream_gene_variant ESAD-UK 1 31202634 31202634 single base substitution C T downstream_gene_variant ESAD-UK 1 31203662 31203662 single base substitution A T downstream_gene_variant ESAD-UK 1 31208406 31208406 single base substitution C T intron_variant ESAD-UK 1 31208938 31208938 single base substitution C T intron_variant ESAD-UK 1 31209871 31209871 single base substitution C A downstream_gene_variant ESAD-UK 1 31209871 31209871 single base substitution C A intron_variant ESAD-UK 1 31211949 31211949 single base substitution C T downstream_gene_variant ESAD-UK 1 31211949 31211949 single base substitution C T intron_variant ESAD-UK 1 31212748 31212748 single base substitution G A downstream_gene_variant ESAD-UK 1 31212748 31212748 single base substitution G A exon_variant ESAD-UK 1 31212748 31212748 single base substitution G A stop_gained Q99* 295C>T ESAD-UK 1 31216053 31216053 single base substitution C A intron_variant ESAD-UK 1 31216452 31216452 single base substitution G C intron_variant ESAD-UK 1 31216527 31216527 single base substitution T C intron_variant ESAD-UK 1 31217013 31217013 single base substitution C G intron_variant ESAD-UK 1 31219368 31219368 single base substitution C G intron_variant ESAD-UK 1 31219368 31219368 single base substitution C G upstream_gene_variant ESAD-UK 1 31221099 31221099 single base substitution C G intron_variant ESAD-UK 1 31221099 31221099 single base substitution C G upstream_gene_variant ESAD-UK 1 31221377 31221377 single base substitution G A intron_variant ESAD-UK 1 31221377 31221377 single base substitution G A upstream_gene_variant ESAD-UK 1 31223727 31223727 single base substitution T C intron_variant ESAD-UK 1 31223727 31223727 single base substitution T C upstream_gene_variant ESAD-UK 1 31224594 31224594 insertion of <=200bp - G intron_variant ESAD-UK 1 31226938 31226938 single base substitution G C intron_variant ESAD-UK 1 31226987 31226987 single base substitution C G intron_variant ESAD-UK 1 31228742 31228742 single base substitution G T intron_variant ESAD-UK 1 31231489 31231489 single base substitution G A upstream_gene_variant ESAD-UK 1 31233608 31233608 single base substitution C T upstream_gene_variant ESCA-CN 1 31230668 31230668 single base substitution C T upstream_gene_variant GBM-US 1 31210478 31210478 single base substitution G A downstream_gene_variant GBM-US 1 31210478 31210478 single base substitution G A exon_variant GBM-US 1 31210478 31210478 single base substitution G A synonymous_variant I193I 579C>T KIRP-US 1 31208088 31208088 single base substitution G A exon_variant KIRP-US 1 31208088 31208088 single base substitution G A missense_variant R211W 631C>T LICA-FR 1 31210220 31210220 single base substitution A C downstream_gene_variant LICA-FR 1 31210220 31210220 single base substitution A C intron_variant LICA-FR 1 31216572 31216572 single base substitution C A intron_variant LICA-FR 1 31216965 31216965 single base substitution T A intron_variant LIHC-US 1 31208055 31208055 single base substitution C A exon_variant LIHC-US 1 31208055 31208055 single base substitution C A missense_variant V222L 664G>T LIHC-US 1 31215394 31215394 single base substitution G C missense_variant I30M 90C>G LIHC-US 1 31215394 31215394 single base substitution G C splice_region_variant LINC-JP 1 31211854 31211854 single base substitution A T downstream_gene_variant LINC-JP 1 31211854 31211854 single base substitution A T exon_variant LINC-JP 1 31211854 31211854 single base substitution A T missense_variant I148N 443T>A LINC-JP 1 31215419 31215419 single base substitution G A intron_variant LINC-JP 1 31230870 31230870 single base substitution C A upstream_gene_variant LINC-JP 1 31232703 31232703 single base substitution T C upstream_gene_variant LIRI-JP 1 31200645 31200645 single base substitution C T downstream_gene_variant LIRI-JP 1 31201736 31201736 single base substitution T C downstream_gene_variant LIRI-JP 1 31201797 31201797 single base substitution G T downstream_gene_variant LIRI-JP 1 31202756 31202756 single base substitution T A downstream_gene_variant LIRI-JP 1 31205584 31205584 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 31205584 31205584 single base substitution G A downstream_gene_variant LIRI-JP 1 31206083 31206083 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 31206083 31206083 single base substitution G T downstream_gene_variant LIRI-JP 1 31207010 31207010 single base substitution A G intron_variant LIRI-JP 1 31211142 31211142 single base substitution C T downstream_gene_variant LIRI-JP 1 31211142 31211142 single base substitution C T intron_variant LIRI-JP 1 31213815 31213815 single base substitution G A downstream_gene_variant LIRI-JP 1 31213815 31213815 single base substitution G A intron_variant LIRI-JP 1 31215063 31215063 deletion of <=200bp G - exon_variant LIRI-JP 1 31215063 31215063 deletion of <=200bp G - intron_variant LIRI-JP 1 31216187 31216187 deletion of <=200bp A - intron_variant LIRI-JP 1 31216474 31216474 single base substitution A G intron_variant LIRI-JP 1 31217158 31217158 single base substitution C A intron_variant LIRI-JP 1 31217743 31217743 single base substitution G C intron_variant LIRI-JP 1 31219281 31219281 single base substitution A G intron_variant LIRI-JP 1 31219281 31219281 single base substitution A G upstream_gene_variant LIRI-JP 1 31224115 31224115 single base substitution C A intron_variant LIRI-JP 1 31225875 31225875 single base substitution C A intron_variant LIRI-JP 1 31226802 31226802 single base substitution T C intron_variant LIRI-JP 1 31229349 31229349 single base substitution T C intron_variant LIRI-JP 1 31229681 31229681 single base substitution A T intron_variant LIRI-JP 1 31230496 31230496 single base substitution G T intron_variant LIRI-JP 1 31231415 31231415 single base substitution A G upstream_gene_variant LIRI-JP 1 31232890 31232890 single base substitution C T upstream_gene_variant LIRI-JP 1 31233620 31233620 single base substitution C T upstream_gene_variant LUSC-KR 1 31205296 31205296 single base substitution A G downstream_gene_variant LUSC-KR 1 31206175 31206175 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 31206175 31206175 single base substitution G C downstream_gene_variant LUSC-KR 1 31206921 31206921 single base substitution G C intron_variant LUSC-KR 1 31207114 31207114 single base substitution C T intron_variant LUSC-KR 1 31208332 31208332 single base substitution G A intron_variant LUSC-KR 1 31212454 31212454 single base substitution G A downstream_gene_variant LUSC-KR 1 31212454 31212454 single base substitution G A intron_variant LUSC-KR 1 31214084 31214084 single base substitution C T downstream_gene_variant LUSC-KR 1 31214084 31214084 single base substitution C T intron_variant LUSC-KR 1 31215019 31215019 single base substitution C T exon_variant LUSC-KR 1 31215019 31215019 single base substitution C T intron_variant LUSC-KR 1 31215953 31215953 single base substitution C T intron_variant LUSC-KR 1 31217849 31217849 single base substitution C T intron_variant LUSC-KR 1 31218724 31218724 single base substitution C T intron_variant LUSC-KR 1 31222765 31222765 single base substitution G A intron_variant LUSC-KR 1 31222765 31222765 single base substitution G A upstream_gene_variant LUSC-KR 1 31224070 31224070 single base substitution C T intron_variant LUSC-KR 1 31224070 31224070 single base substitution C T upstream_gene_variant LUSC-KR 1 31229525 31229525 single base substitution G T intron_variant LUSC-KR 1 31233157 31233157 single base substitution T C upstream_gene_variant LUSC-US 1 31208107 31208107 single base substitution G T exon_variant LUSC-US 1 31208107 31208107 single base substitution G T stop_gained Y204* 612C>A LUSC-US 1 31212756 31212756 single base substitution A G downstream_gene_variant LUSC-US 1 31212756 31212756 single base substitution A G exon_variant LUSC-US 1 31212756 31212756 single base substitution A G missense_variant L96P 287T>C LUSC-US 1 31214487 31214487 single base substitution C G downstream_gene_variant LUSC-US 1 31214487 31214487 single base substitution C G missense_variant K86N 258G>C LUSC-US 1 31214487 31214487 single base substitution C G splice_region_variant MALY-DE 1 31202054 31202054 single base substitution C A downstream_gene_variant MALY-DE 1 31202362 31202362 single base substitution T G downstream_gene_variant MALY-DE 1 31202459 31202459 single base substitution C T downstream_gene_variant MALY-DE 1 31202480 31202480 single base substitution A G downstream_gene_variant MALY-DE 1 31202541 31202541 single base substitution G A downstream_gene_variant MALY-DE 1 31203795 31203795 single base substitution C T downstream_gene_variant MALY-DE 1 31204007 31204007 single base substitution G A downstream_gene_variant MALY-DE 1 31206112 31206112 single base substitution T G 3_prime_UTR_variant MALY-DE 1 31206112 31206112 single base substitution T G downstream_gene_variant MALY-DE 1 31207782 31207782 single base substitution T C intron_variant MALY-DE 1 31210552 31210552 single base substitution A T downstream_gene_variant MALY-DE 1 31210552 31210552 single base substitution A T splice_region_variant MALY-DE 1 31214485 31214485 insertion of <=200bp - ACCTTG downstream_gene_variant MALY-DE 1 31214485 31214485 insertion of <=200bp - ACCTTG splice_donor_variant MALY-DE 1 31214561 31214561 deletion of <=200bp C - exon_variant MALY-DE 1 31214561 31214561 deletion of <=200bp C - frameshift_variant D62 MALY-DE 1 31214561 31214561 deletion of <=200bp C - splice_region_variant MALY-DE 1 31216019 31216019 single base substitution A C intron_variant MALY-DE 1 31216057 31216057 single base substitution G A intron_variant MALY-DE 1 31216060 31216060 single base substitution G A intron_variant MALY-DE 1 31216068 31216068 single base substitution T A intron_variant MALY-DE 1 31217219 31217219 single base substitution A T intron_variant MALY-DE 1 31217220 31217220 single base substitution A G intron_variant MALY-DE 1 31217441 31217441 single base substitution A G intron_variant MALY-DE 1 31217944 31217944 single base substitution C T intron_variant MALY-DE 1 31222196 31222196 single base substitution C T intron_variant MALY-DE 1 31222196 31222196 single base substitution C T upstream_gene_variant MALY-DE 1 31223253 31223253 single base substitution G A intron_variant MALY-DE 1 31223253 31223253 single base substitution G A upstream_gene_variant MALY-DE 1 31223956 31223956 single base substitution A C intron_variant MALY-DE 1 31223956 31223956 single base substitution A C upstream_gene_variant MALY-DE 1 31224145 31224145 single base substitution A G intron_variant MALY-DE 1 31224149 31224149 single base substitution C T intron_variant MALY-DE 1 31224221 31224221 single base substitution G T intron_variant MALY-DE 1 31224331 31224331 single base substitution A T intron_variant MALY-DE 1 31224362 31224362 single base substitution G C intron_variant MALY-DE 1 31224370 31224370 single base substitution G C intron_variant MALY-DE 1 31224371 31224371 single base substitution A C intron_variant MALY-DE 1 31224433 31224433 single base substitution A T intron_variant MALY-DE 1 31224472 31224472 single base substitution G C intron_variant MALY-DE 1 31224480 31224480 single base substitution G A intron_variant MALY-DE 1 31224622 31224622 single base substitution A G intron_variant MALY-DE 1 31226030 31226030 single base substitution C T intron_variant MALY-DE 1 31226156 31226156 single base substitution T G intron_variant MALY-DE 1 31226246 31226246 single base substitution T C intron_variant MALY-DE 1 31226311 31226311 single base substitution T C intron_variant MALY-DE 1 31226417 31226417 single base substitution T C intron_variant MALY-DE 1 31226527 31226527 single base substitution T C intron_variant MALY-DE 1 31226551 31226551 single base substitution T C intron_variant MALY-DE 1 31226628 31226628 single base substitution A G intron_variant MALY-DE 1 31226630 31226630 single base substitution A G intron_variant MALY-DE 1 31226710 31226710 single base substitution G A intron_variant MALY-DE 1 31226792 31226792 single base substitution T A intron_variant MALY-DE 1 31226811 31226811 single base substitution T G intron_variant MALY-DE 1 31226828 31226828 single base substitution T A intron_variant MALY-DE 1 31226839 31226839 single base substitution T G intron_variant MALY-DE 1 31226848 31226848 single base substitution T C intron_variant MALY-DE 1 31226877 31226877 single base substitution T A intron_variant MALY-DE 1 31226883 31226883 single base substitution T A intron_variant MALY-DE 1 31226884 31226884 single base substitution G A intron_variant MALY-DE 1 31226899 31226899 single base substitution G A intron_variant MALY-DE 1 31227116 31227116 single base substitution T C intron_variant MALY-DE 1 31228057 31228057 single base substitution T A intron_variant MALY-DE 1 31228121 31228121 single base substitution C G intron_variant MALY-DE 1 31229370 31229370 single base substitution A G intron_variant MALY-DE 1 31230169 31230169 single base substitution G A intron_variant MALY-DE 1 31230177 31230177 single base substitution C G intron_variant MALY-DE 1 31230186 31230186 single base substitution C T intron_variant MALY-DE 1 31230453 31230453 single base substitution A T intron_variant MALY-DE 1 31230592 31230592 single base substitution T C exon_variant MALY-DE 1 31230592 31230592 single base substitution T C start_lost M1V 1A>G MALY-DE 1 31232051 31232051 single base substitution T C upstream_gene_variant MALY-DE 1 31233391 31233391 single base substitution G A upstream_gene_variant MELA-AU 1 31200785 31200785 single base substitution C T downstream_gene_variant MELA-AU 1 31200786 31200786 single base substitution C T downstream_gene_variant MELA-AU 1 31201588 31201588 single base substitution G A downstream_gene_variant MELA-AU 1 31201604 31201604 single base substitution C T downstream_gene_variant MELA-AU 1 31203361 31203361 single base substitution T C downstream_gene_variant MELA-AU 1 31203884 31203884 single base substitution C T downstream_gene_variant MELA-AU 1 31204299 31204299 single base substitution C T downstream_gene_variant MELA-AU 1 31204601 31204601 single base substitution G A downstream_gene_variant MELA-AU 1 31204786 31204786 single base substitution G A downstream_gene_variant MELA-AU 1 31204792 31204792 single base substitution A C downstream_gene_variant MELA-AU 1 31204984 31204984 single base substitution G A downstream_gene_variant MELA-AU 1 31205497 31205497 single base substitution G A 3_prime_UTR_variant MELA-AU 1 31205497 31205497 single base substitution G A downstream_gene_variant MELA-AU 1 31206694 31206694 single base substitution G A downstream_gene_variant MELA-AU 1 31206694 31206694 single base substitution G A missense_variant P257L 770C>T MELA-AU 1 31206713 31206713 single base substitution C T downstream_gene_variant MELA-AU 1 31206713 31206713 single base substitution C T missense_variant E251K 751G>A MELA-AU 1 31206777 31206777 single base substitution G A intron_variant MELA-AU 1 31206819 31206819 single base substitution C T intron_variant MELA-AU 1 31207015 31207015 single base substitution C T intron_variant MELA-AU 1 31207272 31207272 single base substitution G A intron_variant MELA-AU 1 31207280 31207280 single base substitution G A intron_variant MELA-AU 1 31207286 31207286 single base substitution G A intron_variant MELA-AU 1 31207611 31207611 single base substitution C T intron_variant MELA-AU 1 31207800 31207800 single base substitution G A intron_variant MELA-AU 1 31207846 31207846 single base substitution G A intron_variant MELA-AU 1 31207954 31207954 single base substitution G A intron_variant MELA-AU 1 31208625 31208625 single base substitution C T intron_variant MELA-AU 1 31208645 31208645 single base substitution C T intron_variant MELA-AU 1 31208865 31208865 single base substitution G A intron_variant MELA-AU 1 31209003 31209003 single base substitution G A intron_variant MELA-AU 1 31209087 31209087 single base substitution C T intron_variant MELA-AU 1 31209125 31209125 single base substitution C T intron_variant MELA-AU 1 31209415 31209415 single base substitution G A intron_variant MELA-AU 1 31209553 31209553 single base substitution G A downstream_gene_variant MELA-AU 1 31209553 31209553 single base substitution G A intron_variant MELA-AU 1 31209816 31209816 single base substitution A G downstream_gene_variant MELA-AU 1 31209816 31209816 single base substitution A G intron_variant MELA-AU 1 31209962 31209962 single base substitution C T downstream_gene_variant MELA-AU 1 31209962 31209962 single base substitution C T intron_variant MELA-AU 1 31210439 31210439 single base substitution G A downstream_gene_variant MELA-AU 1 31210439 31210439 single base substitution G A intron_variant MELA-AU 1 31210590 31210590 single base substitution G A downstream_gene_variant MELA-AU 1 31210590 31210590 single base substitution G A intron_variant MELA-AU 1 31210627 31210627 single base substitution C T downstream_gene_variant MELA-AU 1 31210627 31210627 single base substitution C T intron_variant MELA-AU 1 31210745 31210745 single base substitution G A downstream_gene_variant MELA-AU 1 31210745 31210745 single base substitution G A intron_variant MELA-AU 1 31210769 31210769 single base substitution C T downstream_gene_variant MELA-AU 1 31210769 31210769 single base substitution C T intron_variant MELA-AU 1 31210861 31210861 single base substitution C T downstream_gene_variant MELA-AU 1 31210861 31210861 single base substitution C T intron_variant MELA-AU 1 31210888 31210888 single base substitution C T downstream_gene_variant MELA-AU 1 31210888 31210888 single base substitution C T intron_variant MELA-AU 1 31210913 31210913 single base substitution C T downstream_gene_variant MELA-AU 1 31210913 31210913 single base substitution C T intron_variant MELA-AU 1 31210960 31210960 single base substitution C T downstream_gene_variant MELA-AU 1 31210960 31210960 single base substitution C T intron_variant MELA-AU 1 31211470 31211470 single base substitution G A downstream_gene_variant MELA-AU 1 31211470 31211470 single base substitution G A intron_variant MELA-AU 1 31211541 31211541 single base substitution G A downstream_gene_variant MELA-AU 1 31211541 31211541 single base substitution G A intron_variant MELA-AU 1 31211594 31211594 single base substitution G A downstream_gene_variant MELA-AU 1 31211594 31211594 single base substitution G A intron_variant MELA-AU 1 31211725 31211725 single base substitution G A downstream_gene_variant MELA-AU 1 31211725 31211725 single base substitution G A intron_variant MELA-AU 1 31211800 31211800 single base substitution G T downstream_gene_variant MELA-AU 1 31211800 31211800 single base substitution G T exon_variant MELA-AU 1 31211800 31211800 single base substitution G T missense_variant S166Y 497C>A MELA-AU 1 31211895 31211895 single base substitution G A downstream_gene_variant MELA-AU 1 31211895 31211895 single base substitution G A exon_variant MELA-AU 1 31211895 31211895 single base substitution G A synonymous_variant F134F 402C>T MELA-AU 1 31212035 31212035 single base substitution C T downstream_gene_variant MELA-AU 1 31212035 31212035 single base substitution C T intron_variant MELA-AU 1 31212366 31212366 single base substitution C T downstream_gene_variant MELA-AU 1 31212366 31212366 single base substitution C T intron_variant MELA-AU 1 31212396 31212396 single base substitution C T downstream_gene_variant MELA-AU 1 31212396 31212396 single base substitution C T intron_variant MELA-AU 1 31212424 31212424 single base substitution C T downstream_gene_variant MELA-AU 1 31212424 31212424 single base substitution C T intron_variant MELA-AU 1 31212540 31212540 single base substitution G A downstream_gene_variant MELA-AU 1 31212540 31212540 single base substitution G A intron_variant MELA-AU 1 31212641 31212641 single base substitution G A downstream_gene_variant MELA-AU 1 31212641 31212641 single base substitution G A intron_variant MELA-AU 1 31212667 31212667 single base substitution G T downstream_gene_variant MELA-AU 1 31212667 31212667 single base substitution G T exon_variant MELA-AU 1 31212667 31212667 single base substitution G T synonymous_variant R126R 376C>A MELA-AU 1 31212871 31212871 single base substitution C T downstream_gene_variant MELA-AU 1 31212871 31212871 single base substitution C T intron_variant MELA-AU 1 31212999 31212999 single base substitution T A downstream_gene_variant MELA-AU 1 31212999 31212999 single base substitution T A intron_variant MELA-AU 1 31213106 31213106 single base substitution G A downstream_gene_variant MELA-AU 1 31213106 31213106 single base substitution G A intron_variant MELA-AU 1 31213551 31213551 single base substitution C T downstream_gene_variant MELA-AU 1 31213551 31213551 single base substitution C T intron_variant MELA-AU 1 31213687 31213687 single base substitution G A downstream_gene_variant MELA-AU 1 31213687 31213687 single base substitution G A intron_variant MELA-AU 1 31213741 31213741 single base substitution C T downstream_gene_variant MELA-AU 1 31213741 31213741 single base substitution C T intron_variant MELA-AU 1 31213850 31213851 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 31213850 31213851 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 31213907 31213907 single base substitution G A downstream_gene_variant MELA-AU 1 31213907 31213907 single base substitution G A intron_variant MELA-AU 1 31214091 31214091 single base substitution C T downstream_gene_variant MELA-AU 1 31214091 31214091 single base substitution C T intron_variant MELA-AU 1 31214450 31214450 single base substitution G A downstream_gene_variant MELA-AU 1 31214450 31214450 single base substitution G A intron_variant MELA-AU 1 31214520 31214520 single base substitution G A downstream_gene_variant MELA-AU 1 31214520 31214520 single base substitution G A exon_variant MELA-AU 1 31214520 31214520 single base substitution G A synonymous_variant I75I 225C>T MELA-AU 1 31214610 31214610 single base substitution C T exon_variant MELA-AU 1 31214610 31214610 single base substitution C T intron_variant MELA-AU 1 31214639 31214639 single base substitution G A exon_variant MELA-AU 1 31214639 31214639 single base substitution G A intron_variant MELA-AU 1 31214641 31214641 single base substitution G A exon_variant MELA-AU 1 31214641 31214641 single base substitution G A intron_variant MELA-AU 1 31215252 31215252 single base substitution C T exon_variant MELA-AU 1 31215252 31215252 single base substitution C T intron_variant MELA-AU 1 31215268 31215268 single base substitution C T exon_variant MELA-AU 1 31215268 31215268 single base substitution C T intron_variant MELA-AU 1 31215269 31215269 single base substitution C T exon_variant MELA-AU 1 31215269 31215269 single base substitution C T intron_variant MELA-AU 1 31215447 31215447 single base substitution G A intron_variant MELA-AU 1 31215481 31215481 single base substitution G A intron_variant MELA-AU 1 31215908 31215908 single base substitution C T intron_variant MELA-AU 1 31215912 31215912 single base substitution G A intron_variant MELA-AU 1 31216010 31216010 single base substitution G A intron_variant MELA-AU 1 31216072 31216072 single base substitution C T intron_variant MELA-AU 1 31216127 31216127 single base substitution C T intron_variant MELA-AU 1 31216622 31216622 single base substitution C T intron_variant MELA-AU 1 31217160 31217161 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 31217302 31217302 single base substitution G A intron_variant MELA-AU 1 31217875 31217875 single base substitution G A intron_variant MELA-AU 1 31218121 31218121 single base substitution C A intron_variant MELA-AU 1 31218270 31218270 single base substitution C T intron_variant MELA-AU 1 31218293 31218293 single base substitution C T intron_variant MELA-AU 1 31218411 31218411 single base substitution G A intron_variant MELA-AU 1 31218772 31218773 multiple base substitution (>=2bp and <=200bp) GT AA exon_variant MELA-AU 1 31218772 31218773 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 31219073 31219073 single base substitution G A exon_variant MELA-AU 1 31219073 31219073 single base substitution G A intron_variant MELA-AU 1 31219269 31219269 single base substitution G A intron_variant MELA-AU 1 31219269 31219269 single base substitution G A upstream_gene_variant MELA-AU 1 31219454 31219454 single base substitution G A intron_variant MELA-AU 1 31219454 31219454 single base substitution G A upstream_gene_variant MELA-AU 1 31219510 31219510 single base substitution C T intron_variant MELA-AU 1 31219510 31219510 single base substitution C T upstream_gene_variant MELA-AU 1 31219631 31219631 single base substitution C T intron_variant MELA-AU 1 31219631 31219631 single base substitution C T upstream_gene_variant MELA-AU 1 31219787 31219787 single base substitution C T intron_variant MELA-AU 1 31219787 31219787 single base substitution C T upstream_gene_variant MELA-AU 1 31219896 31219896 single base substitution G T intron_variant MELA-AU 1 31219896 31219896 single base substitution G T upstream_gene_variant MELA-AU 1 31219947 31219947 single base substitution G A intron_variant MELA-AU 1 31219947 31219947 single base substitution G A upstream_gene_variant MELA-AU 1 31219978 31219978 single base substitution G A intron_variant MELA-AU 1 31219978 31219978 single base substitution G A upstream_gene_variant MELA-AU 1 31220001 31220001 single base substitution C T intron_variant MELA-AU 1 31220001 31220001 single base substitution C T upstream_gene_variant MELA-AU 1 31220005 31220005 single base substitution G A intron_variant MELA-AU 1 31220005 31220005 single base substitution G A upstream_gene_variant MELA-AU 1 31220329 31220329 single base substitution C T intron_variant MELA-AU 1 31220329 31220329 single base substitution C T upstream_gene_variant MELA-AU 1 31220340 31220340 single base substitution C T intron_variant MELA-AU 1 31220340 31220340 single base substitution C T upstream_gene_variant MELA-AU 1 31220471 31220471 single base substitution G A intron_variant MELA-AU 1 31220471 31220471 single base substitution G A upstream_gene_variant MELA-AU 1 31220607 31220607 single base substitution G A intron_variant MELA-AU 1 31220607 31220607 single base substitution G A upstream_gene_variant MELA-AU 1 31220744 31220744 single base substitution C T intron_variant MELA-AU 1 31220744 31220744 single base substitution C T upstream_gene_variant MELA-AU 1 31220775 31220775 single base substitution G A intron_variant MELA-AU 1 31220775 31220775 single base substitution G A upstream_gene_variant MELA-AU 1 31221211 31221212 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 31221211 31221212 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 1 31221291 31221291 single base substitution C T intron_variant MELA-AU 1 31221291 31221291 single base substitution C T upstream_gene_variant MELA-AU 1 31221478 31221478 single base substitution C T intron_variant MELA-AU 1 31221478 31221478 single base substitution C T upstream_gene_variant MELA-AU 1 31221491 31221491 single base substitution C T intron_variant MELA-AU 1 31221491 31221491 single base substitution C T upstream_gene_variant MELA-AU 1 31221711 31221711 single base substitution C T intron_variant MELA-AU 1 31221711 31221711 single base substitution C T upstream_gene_variant MELA-AU 1 31222210 31222210 single base substitution G A intron_variant MELA-AU 1 31222210 31222210 single base substitution G A upstream_gene_variant MELA-AU 1 31222460 31222460 single base substitution C T intron_variant MELA-AU 1 31222460 31222460 single base substitution C T upstream_gene_variant MELA-AU 1 31222742 31222742 single base substitution G A intron_variant MELA-AU 1 31222742 31222742 single base substitution G A upstream_gene_variant MELA-AU 1 31223006 31223007 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 31223006 31223007 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 31223110 31223110 single base substitution C T intron_variant MELA-AU 1 31223110 31223110 single base substitution C T upstream_gene_variant MELA-AU 1 31223138 31223138 single base substitution C T intron_variant MELA-AU 1 31223138 31223138 single base substitution C T upstream_gene_variant MELA-AU 1 31223357 31223357 single base substitution C G intron_variant MELA-AU 1 31223357 31223357 single base substitution C G upstream_gene_variant MELA-AU 1 31223495 31223495 single base substitution C T intron_variant MELA-AU 1 31223495 31223495 single base substitution C T upstream_gene_variant MELA-AU 1 31223628 31223628 single base substitution G A intron_variant MELA-AU 1 31223628 31223628 single base substitution G A upstream_gene_variant MELA-AU 1 31223923 31223923 single base substitution C T intron_variant MELA-AU 1 31223923 31223923 single base substitution C T upstream_gene_variant MELA-AU 1 31224100 31224100 single base substitution C T intron_variant MELA-AU 1 31224132 31224132 single base substitution C T intron_variant MELA-AU 1 31224496 31224496 single base substitution G A intron_variant MELA-AU 1 31224870 31224870 single base substitution G A intron_variant MELA-AU 1 31224911 31224911 single base substitution C T intron_variant MELA-AU 1 31225033 31225033 single base substitution C T intron_variant MELA-AU 1 31225061 31225061 single base substitution G A intron_variant MELA-AU 1 31225224 31225225 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 31225301 31225301 single base substitution G A intron_variant MELA-AU 1 31225415 31225415 single base substitution C T intron_variant MELA-AU 1 31225424 31225424 single base substitution C T intron_variant MELA-AU 1 31225448 31225448 single base substitution C T intron_variant MELA-AU 1 31225898 31225898 single base substitution G A intron_variant MELA-AU 1 31225946 31225946 single base substitution C T intron_variant MELA-AU 1 31226260 31226260 single base substitution G A intron_variant MELA-AU 1 31226353 31226353 single base substitution C G intron_variant MELA-AU 1 31226510 31226510 single base substitution G A intron_variant MELA-AU 1 31226786 31226787 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 31226846 31226846 single base substitution C T intron_variant MELA-AU 1 31226847 31226847 single base substitution C T intron_variant MELA-AU 1 31226972 31226972 single base substitution G A intron_variant MELA-AU 1 31227527 31227527 single base substitution C T intron_variant MELA-AU 1 31227642 31227642 single base substitution G A intron_variant MELA-AU 1 31227653 31227653 single base substitution C T intron_variant MELA-AU 1 31227748 31227748 single base substitution G A intron_variant MELA-AU 1 31227857 31227857 single base substitution C T intron_variant MELA-AU 1 31227885 31227886 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 31227902 31227902 single base substitution C T intron_variant MELA-AU 1 31228034 31228034 single base substitution C T intron_variant MELA-AU 1 31228075 31228075 single base substitution G A intron_variant MELA-AU 1 31228232 31228232 single base substitution C T intron_variant MELA-AU 1 31228862 31228862 single base substitution G A intron_variant MELA-AU 1 31229185 31229185 single base substitution C T intron_variant MELA-AU 1 31229334 31229334 single base substitution C T intron_variant MELA-AU 1 31229372 31229372 single base substitution G A intron_variant MELA-AU 1 31229400 31229400 single base substitution C T intron_variant MELA-AU 1 31229433 31229433 single base substitution G A intron_variant MELA-AU 1 31229703 31229703 single base substitution G T intron_variant MELA-AU 1 31229797 31229797 single base substitution C A intron_variant MELA-AU 1 31230226 31230226 single base substitution A T intron_variant MELA-AU 1 31230312 31230312 single base substitution C T intron_variant MELA-AU 1 31230575 31230575 single base substitution G A exon_variant MELA-AU 1 31230575 31230575 single base substitution G A synonymous_variant S6S 18C>T MELA-AU 1 31230609 31230609 single base substitution C T 5_prime_UTR_variant MELA-AU 1 31230609 31230609 single base substitution C T upstream_gene_variant MELA-AU 1 31230664 31230664 single base substitution G A 5_prime_UTR_variant MELA-AU 1 31230664 31230664 single base substitution G A upstream_gene_variant MELA-AU 1 31230930 31230930 single base substitution G A upstream_gene_variant MELA-AU 1 31230964 31230964 single base substitution G A upstream_gene_variant MELA-AU 1 31231210 31231210 single base substitution G A upstream_gene_variant MELA-AU 1 31231214 31231214 single base substitution C T upstream_gene_variant MELA-AU 1 31231596 31231596 single base substitution C T upstream_gene_variant MELA-AU 1 31231886 31231886 single base substitution G A upstream_gene_variant MELA-AU 1 31232097 31232097 single base substitution G A upstream_gene_variant MELA-AU 1 31232543 31232543 single base substitution G A upstream_gene_variant MELA-AU 1 31232609 31232609 single base substitution G A upstream_gene_variant MELA-AU 1 31232878 31232878 single base substitution C T upstream_gene_variant MELA-AU 1 31233169 31233169 single base substitution C T upstream_gene_variant MELA-AU 1 31233175 31233175 single base substitution G A upstream_gene_variant MELA-AU 1 31233442 31233442 single base substitution G A upstream_gene_variant MELA-AU 1 31233794 31233794 single base substitution C T upstream_gene_variant MELA-AU 1 31233900 31233900 single base substitution G A upstream_gene_variant MELA-AU 1 31234984 31234984 single base substitution C T upstream_gene_variant MELA-AU 1 31235157 31235157 single base substitution C T upstream_gene_variant MELA-AU 1 31235338 31235338 single base substitution G A upstream_gene_variant MELA-AU 1 31235521 31235521 single base substitution C T upstream_gene_variant MELA-AU 1 31235575 31235575 single base substitution C T upstream_gene_variant ORCA-IN 1 31221624 31221624 single base substitution A C intron_variant ORCA-IN 1 31221624 31221624 single base substitution A C upstream_gene_variant OV-AU 1 31206742 31206742 single base substitution T C exon_variant OV-AU 1 31206742 31206742 single base substitution T C missense_variant E241G 722A>G OV-AU 1 31210792 31210792 single base substitution C G downstream_gene_variant OV-AU 1 31210792 31210792 single base substitution C G intron_variant OV-AU 1 31211011 31211011 single base substitution C G downstream_gene_variant OV-AU 1 31211011 31211011 single base substitution C G intron_variant OV-AU 1 31217172 31217172 single base substitution G T intron_variant OV-AU 1 31219998 31219998 single base substitution A G intron_variant OV-AU 1 31219998 31219998 single base substitution A G upstream_gene_variant OV-AU 1 31223838 31223838 single base substitution G A intron_variant OV-AU 1 31223838 31223838 single base substitution G A upstream_gene_variant OV-AU 1 31224320 31224320 single base substitution C A intron_variant OV-AU 1 31224321 31224321 single base substitution C A intron_variant OV-AU 1 31225353 31225353 single base substitution C A intron_variant PACA-AU 1 31203479 31203479 single base substitution C T downstream_gene_variant PACA-AU 1 31205896 31205896 single base substitution T C 3_prime_UTR_variant PACA-AU 1 31205896 31205896 single base substitution T C downstream_gene_variant PACA-AU 1 31208916 31208916 single base substitution C T intron_variant PACA-AU 1 31213247 31213247 deletion of <=200bp C - downstream_gene_variant PACA-AU 1 31213247 31213247 deletion of <=200bp C - intron_variant PACA-AU 1 31219857 31219857 single base substitution C T intron_variant PACA-AU 1 31219857 31219857 single base substitution C T upstream_gene_variant PACA-AU 1 31224375 31224375 single base substitution C G intron_variant PACA-AU 1 31224626 31224627 deletion of <=200bp CC - intron_variant PACA-AU 1 31226675 31226675 single base substitution G A intron_variant PACA-AU 1 31228325 31228325 single base substitution C T intron_variant PACA-AU 1 31230473 31230473 single base substitution G A intron_variant PACA-CA 1 31204039 31204039 single base substitution C G downstream_gene_variant PACA-CA 1 31205508 31205508 single base substitution C G 3_prime_UTR_variant PACA-CA 1 31205508 31205508 single base substitution C G downstream_gene_variant PACA-CA 1 31207278 31207278 single base substitution C T intron_variant PACA-CA 1 31211076 31211076 single base substitution A T downstream_gene_variant PACA-CA 1 31211076 31211076 single base substitution A T intron_variant PACA-CA 1 31215450 31215450 single base substitution C T intron_variant PACA-CA 1 31216146 31216146 insertion of <=200bp - TGAA intron_variant PACA-CA 1 31217148 31217159 deletion of <=200bp CCTTCCTCAGCC - intron_variant PACA-CA 1 31221035 31221035 single base substitution G A intron_variant PACA-CA 1 31221035 31221035 single base substitution G A upstream_gene_variant PACA-CA 1 31222636 31222636 single base substitution C T intron_variant PACA-CA 1 31222636 31222636 single base substitution C T upstream_gene_variant PACA-CA 1 31226124 31226124 single base substitution C T intron_variant PACA-CA 1 31227325 31227325 single base substitution G T intron_variant PACA-CA 1 31228126 31228126 single base substitution A T intron_variant PACA-CA 1 31231103 31231103 single base substitution C T upstream_gene_variant PACA-CA 1 31232520 31232520 single base substitution T C upstream_gene_variant PACA-CA 1 31234931 31234931 single base substitution G T upstream_gene_variant PAEN-AU 1 31220716 31220716 single base substitution G T intron_variant PAEN-AU 1 31220716 31220716 single base substitution G T upstream_gene_variant PAEN-AU 1 31227949 31227949 single base substitution C T intron_variant PAEN-IT 1 31231876 31231876 single base substitution C A upstream_gene_variant PBCA-DE 1 31215440 31215440 single base substitution G A intron_variant PBCA-DE 1 31225913 31225913 single base substitution G C intron_variant PBCA-DE 1 31233055 31233055 single base substitution C T upstream_gene_variant PRAD-CA 1 31201837 31201837 single base substitution G C downstream_gene_variant PRAD-CA 1 31203966 31203966 single base substitution C T downstream_gene_variant PRAD-CA 1 31234576 31234576 single base substitution C T upstream_gene_variant PRAD-UK 1 31216505 31216505 single base substitution T A intron_variant PRAD-UK 1 31227131 31227131 single base substitution C T intron_variant PRAD-UK 1 31228820 31228822 deletion of <=200bp TGG - intron_variant PRAD-UK 1 31232174 31232174 single base substitution C A upstream_gene_variant RECA-EU 1 31211437 31211437 single base substitution C A downstream_gene_variant RECA-EU 1 31211437 31211437 single base substitution C A intron_variant RECA-EU 1 31220378 31220378 single base substitution A C intron_variant RECA-EU 1 31220378 31220378 single base substitution A C upstream_gene_variant RECA-EU 1 31227499 31227499 single base substitution G T intron_variant RECA-EU 1 31229576 31229576 single base substitution T G intron_variant RECA-EU 1 31231112 31231112 single base substitution G A upstream_gene_variant SKCA-BR 1 31200358 31200358 single base substitution C T downstream_gene_variant SKCA-BR 1 31201130 31201130 single base substitution C T downstream_gene_variant SKCA-BR 1 31201527 31201527 single base substitution A T downstream_gene_variant SKCA-BR 1 31205589 31205589 single base substitution T G 3_prime_UTR_variant SKCA-BR 1 31205589 31205589 single base substitution T G downstream_gene_variant SKCA-BR 1 31208268 31208268 single base substitution A C intron_variant SKCA-BR 1 31210211 31210211 single base substitution G A downstream_gene_variant SKCA-BR 1 31210211 31210211 single base substitution G A intron_variant SKCA-BR 1 31210630 31210630 single base substitution A C downstream_gene_variant SKCA-BR 1 31210630 31210630 single base substitution A C intron_variant SKCA-BR 1 31211960 31211960 single base substitution C T downstream_gene_variant SKCA-BR 1 31211960 31211960 single base substitution C T intron_variant SKCA-BR 1 31213263 31213263 single base substitution T C downstream_gene_variant SKCA-BR 1 31213263 31213263 single base substitution T C intron_variant SKCA-BR 1 31216642 31216642 insertion of <=200bp - GTT intron_variant SKCA-BR 1 31216780 31216780 single base substitution G A intron_variant SKCA-BR 1 31216999 31216999 single base substitution G C intron_variant SKCA-BR 1 31218851 31218851 single base substitution C T exon_variant SKCA-BR 1 31218851 31218851 single base substitution C T intron_variant SKCA-BR 1 31219174 31219174 single base substitution C T intron_variant SKCA-BR 1 31219174 31219174 single base substitution C T upstream_gene_variant SKCA-BR 1 31222219 31222219 single base substitution T G intron_variant SKCA-BR 1 31222219 31222219 single base substitution T G upstream_gene_variant SKCA-BR 1 31222250 31222250 single base substitution T G intron_variant SKCA-BR 1 31222250 31222250 single base substitution T G upstream_gene_variant SKCA-BR 1 31222804 31222804 single base substitution G A intron_variant SKCA-BR 1 31222804 31222804 single base substitution G A upstream_gene_variant SKCA-BR 1 31223877 31223877 single base substitution C T intron_variant SKCA-BR 1 31223877 31223877 single base substitution C T upstream_gene_variant SKCA-BR 1 31225932 31225932 insertion of <=200bp - CT intron_variant SKCA-BR 1 31226960 31226960 single base substitution G A intron_variant SKCA-BR 1 31228378 31228378 single base substitution T C intron_variant SKCA-BR 1 31230311 31230311 single base substitution C T intron_variant SKCA-BR 1 31231556 31231556 single base substitution C T upstream_gene_variant SKCM-US 1 31206707 31206707 single base substitution C T downstream_gene_variant SKCM-US 1 31206707 31206707 single base substitution C T missense_variant G253S 757G>A SKCM-US 1 31208062 31208062 single base substitution C T exon_variant SKCM-US 1 31208062 31208062 single base substitution C T missense_variant M219I 657G>A SKCM-US 1 31211796 31211796 single base substitution C T downstream_gene_variant SKCM-US 1 31211796 31211796 single base substitution C T exon_variant SKCM-US 1 31211796 31211796 single base substitution C T missense_variant M167I 501G>A SKCM-US 1 31212743 31212743 single base substitution G A downstream_gene_variant SKCM-US 1 31212743 31212743 single base substitution G A exon_variant SKCM-US 1 31212743 31212743 single base substitution G A synonymous_variant I100I 300C>T SKCM-US 1 31214502 31214502 single base substitution C T downstream_gene_variant SKCM-US 1 31214502 31214502 single base substitution C T exon_variant SKCM-US 1 31214502 31214502 single base substitution C T synonymous_variant L81L 243G>A STAD-US 1 31206723 31206723 single base substitution C T downstream_gene_variant STAD-US 1 31206723 31206723 single base substitution C T synonymous_variant S247S 741G>A STAD-US 1 31208028 31208028 single base substitution G T exon_variant STAD-US 1 31208028 31208028 single base substitution G T missense_variant L231I 691C>A STAD-US 1 31208095 31208095 single base substitution G T exon_variant STAD-US 1 31208095 31208095 single base substitution G T stop_gained C208* 624C>A STAD-US 1 31214496 31214496 single base substitution G A downstream_gene_variant STAD-US 1 31214496 31214496 single base substitution G A exon_variant STAD-US 1 31214496 31214496 single base substitution G A synonymous_variant G83G 249C>T UCEC-US 1 31206701 31206701 single base substitution C A downstream_gene_variant UCEC-US 1 31206701 31206701 single base substitution C A missense_variant A255S 763G>T UCEC-US 1 31210499 31210499 single base substitution C A downstream_gene_variant UCEC-US 1 31210499 31210499 single base substitution C A exon_variant UCEC-US 1 31210499 31210499 single base substitution C A missense_variant K186N 558G>T UCEC-US 1 31210514 31210514 single base substitution A T downstream_gene_variant UCEC-US 1 31210514 31210514 single base substitution A T exon_variant UCEC-US 1 31210514 31210514 single base substitution A T missense_variant H181Q 543T>A UCEC-US 1 31214495 31214495 single base substitution C T downstream_gene_variant UCEC-US 1 31214495 31214495 single base substitution C T exon_variant UCEC-US 1 31214495 31214495 single base substitution C T missense_variant V84I 250G>A UCEC-US 1 31215370 31215370 single base substitution C A exon_variant UCEC-US 1 31215370 31215370 single base substitution C A missense_variant E38D 114G>T UCEC-US 1 31230535 31230535 single base substitution C T exon_variant UCEC-US 1 31230535 31230535 single base substitution C T missense_variant A20T 58G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand AOCS-092-3-3 COSM3943861 c.722A>G p.E241G Substitution - Missense 1:30733895-30733895 - BN50T COSM1602189 c.443T>A p.I148N Substitution - Missense 1:30739007-30739007 - YUISKIA COSM1687313 c.655A>G p.M219V Substitution - Missense 1:30735217-30735217 - PD23554a COSM5780707 c.51C>A p.V17V Substitution - coding silent 1:30757695-30757695 - TCGA-D1-A103-01 COSM908107 c.250G>A p.V84I Substitution - Missense 1:30741648-30741648 - LPJ119 COSM1316627 c.2T>C p.M1T Substitution - Missense 1:30757744-30757744 - TCGA-B5-A0JY-01 COSM908106 c.543T>A p.H181Q Substitution - Missense 1:30737667-30737667 - Pat_41_B COSM5846318 c.700G>A p.V234M Substitution - Missense 1:30733917-30733917 - TCGA-32-4211-01 COSM3400658 c.579C>T p.I193I Substitution - coding silent 1:30737631-30737631 - LPJ119 COSM1316624 c.14T>A p.L5* Substitution - Nonsense 1:30757732-30757732 - ESCC_91 COSM5636760 c.301A>G p.M101V Substitution - Missense 1:30739895-30739895 - TCGA-33-4533-01 COSM680072 c.258G>C p.K86N Substitution - Missense 1:30741640-30741640 - BN50 COSM1602189 c.443T>A p.I148N Substitution - Missense 1:30739007-30739007 - PD6727b COSM5774811 c.274C>T p.L92L Substitution - coding silent 1:30739922-30739922 - YUKAT COSM5380614 c.479C>T p.T160I Substitution - Missense 1:30738971-30738971 - TCGA-EE-A3JI-06 COSM3487931 c.501G>A p.M167I Substitution - Missense 1:30738949-30738949 - ESO-075 COSM1256320 c.263G>A p.R88Q Substitution - Missense 1:30739933-30739933 - tumor_4131095 COSM5948732 c.258+1_258+2insCAAGGT p.? Unknown 1:30741638-30741639 - TCGA-D1-A103-01 COSM908105 c.558G>T p.K186N Substitution - Missense 1:30737652-30737652 - TCGA-B5-A0JY-01 COSM908108 c.114G>T p.E38D Substitution - Missense 1:30742523-30742523 - TCGA-A2-A0T5-01 COSM3804916 c.325A>C p.T109P Substitution - Missense 1:30739871-30739871 - ESCC_101 COSM5637910 c.782A>T p.E261V Substitution - Missense 1:30733835-30733835 - TCGA-D7-A4YT-01 COSM4031330 c.249C>T p.G83G Substitution - coding silent 1:30741649-30741649 - TCGA-66-2742-01 COSM680073 c.287T>C p.L96P Substitution - Missense 1:30739909-30739909 - TCGA-IH-A3EA-01 COSM3487933 c.243G>A p.L81L Substitution - coding silent 1:30741655-30741655 - TCGA-D3-A51G-06 COSM3487933 c.243G>A p.L81L Substitution - coding silent 1:30741655-30741655 - 489 COSM185204 c.561G>T p.M187I Substitution - Missense 1:30737649-30737649 - TCGA-EE-A181-06 COSM3487930 c.657G>A p.M219I Substitution - Missense 1:30735215-30735215 - TCGA-CC-A7IH-01 COSM4923576 c.90C>G p.I30M Substitution - Missense 1:30742547-30742547 - RK061_C01 COSM1627009 c.87+10C>A p.? Unknown 1:30757649-30757649 - TCGA-BS-A0UV-01 COSM908109 c.58G>A p.A20T Substitution - Missense 1:30757688-30757688 - TCGA-D3-A5GO-06 COSM3487932 c.300C>T p.I100I Substitution - coding silent 1:30739896-30739896 - PDA_074 COSM5001925 c.677G>A p.R226K Substitution - Missense 1:30735195-30735195 - D16 COSM137768 c.303G>A p.M101I Substitution - Missense 1:30739893-30739893 - S00944 COSM312456 c.248delG p.G83fs*2 Deletion - Frameshift 1:30741650-30741650 - TCGA-CG-4306-01 COSM4031329 c.624C>A p.C208* Substitution - Nonsense 1:30735248-30735248 - AOCS-092-1-6 COSM3943861 c.722A>G p.E241G Substitution - Missense 1:30733895-30733895 - LPJ119 COSM1316626 c.7C>A p.P3T Substitution - Missense 1:30757739-30757739 - TCGA-DK-A3WW-01 COSM3789872 c.600C>G p.I200M Substitution - Missense 1:30737610-30737610 - cSCCP5 COSM137768 c.303G>A p.M101I Substitution - Missense 1:30739893-30739893 - ESO-601 COSM1256321 c.581C>T p.A194V Substitution - Missense 1:30737629-30737629 - LPJ119 COSM1316625 c.13T>G p.L5V Substitution - Missense 1:30757733-30757733 - GHE1437 COSM5715128 c.87+2T>A p.? Unknown 1:30757657-30757657 - tumor_4111326 COSM5950028 c.1A>G p.M1V Substitution - Missense 1:30757745-30757745 - LPJ119 COSM1316623 c.23T>A p.V8D Substitution - Missense 1:30757723-30757723 - TCGA-BR-7703-01 COSM297888 c.741G>A p.S247S Substitution - coding silent 1:30733876-30733876 - SNU-C1 COSM4650960 c.18C>A p.S6S Substitution - coding silent 1:30757728-30757728 - C086 COSM5533669 c.363C>T p.L121L Substitution - coding silent 1:30739833-30739833 - HT115 COSM908109 c.58G>A p.A20T Substitution - Missense 1:30757688-30757688 - TCGA-FW-A3R5-06 COSM3865273 c.757G>A p.G253S Substitution - Missense 1:30733860-30733860 - LUAD-NYU195 COSM370979 c.649A>G p.K217E Substitution - Missense 1:30735223-30735223 - S00944 COSM312456 c.248delG p.G83fs*2 Deletion - Frameshift 1:30741650-30741650 - TCGA-CC-A5UE-01 COSM4933902 c.664G>T p.V222L Substitution - Missense 1:30735208-30735208 - TCGA-AA-3984-01 COSM297888 c.741G>A p.S247S Substitution - coding silent 1:30733876-30733876 - TCGA-DW-7963-01 COSM3984961 c.631C>T p.R211W Substitution - Missense 1:30735241-30735241 - TCGA-85-6561-01 COSM680074 c.612C>A p.Y204* Substitution - Nonsense 1:30735260-30735260 - SJHGG015_D COSM4969219 c.423G>T p.L141L Substitution - coding silent 1:30739027-30739027 - TCGA-CD-A4MJ-01 COSM4031328 c.691C>A p.L231I Substitution - Missense 1:30735181-30735181 - TCGA-AP-A059-01 COSM908104 c.763G>T p.A255S Substitution - Missense 1:30733854-30733854 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.371021 1p34 601476

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L96P c.287T>C 1 31212756 LUSC C A Missense p.M187I c.561G>T 1 31210496 HNSC C - Frameshift p.G83Afs*2 c.248delG 1 31214497 SCLC C G Missense p.K86N c.258G>C 1 31214487 LUSC C T Missense p.E240K c.718G>A 1 31206746 BRCA C T Missense p.M167I c.501G>A 1 31211796 CM C T Missense p.M219I c.657G>A 1 31208062 CM C T Missense p.R88Q c.263G>A 1 31212780 ESCA C T Synonymous p.K86K c.258G>A 1 31214487 CM C T Synonymous p.L81L c.243G>A 1 31214502 CM GAA - IntronicDeletion . c.87+3816_87+3818delTTC 1 31226688 CLL G A IntronicSNV . c.181+8C>T 1 31215295 CM G A Missense p.A194V c.581C>T 1 31210476 ESCA G A Missense p.S166F c.497C>T 1 31211800 LUAD G A Missense p.S192F c.575C>T 1 31210482 CM G A Synonymous p.I100I c.300C>T 1 31212743 CM G A Synonymous p.I193I c.579C>T 1 31210478 GBM G A Synonymous p.I60I c.180C>T 1 31215304 BRCA G A Synonymous p.L149L c.445C>T 1 31211852 CM G A Synonymous p.L92L c.274C>T 1 31212769 HNSC G T Missense p.A25D c.74C>A 1 31230519 LUAD G T Nonsense p.C208* c.624C>A 1 31208095 STAD G T Nonsense p.Y204* c.612C>A 1 31208107 LUSC T G 3-UTRSNV . c.786+566A>C 1 31206112 DLBCL