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 BRCA 16 75033946 75033946 + Missense_Mutation SNP A A G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr16:75033946A>G c.377A>G c.(376-378)gAt>gGt p.D126G BRCA 16 75033986 75033986 + Silent SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 g.chr16:75033986G>A c.417G>A c.(415-417)tcG>tcA p.S139S BRCA 16 75138732 75138732 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr16:75138732C>G c.571C>G c.(571-573)Ctg>Gtg p.L191V CESC 16 75033937 75033937 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr16:75033937C>T c.368C>T c.(367-369)tCg>tTg p.S123L COAD 16 75127551 75127551 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr16:75127551G>A c.506G>A c.(505-507)cGc>cAc p.R169H COAD 16 75127561 75127561 + Nonsense_Mutation SNP C C A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr16:75127561C>A c.516C>A c.(514-516)taC>taA p.Y172* COADREAD 16 75127551 75127551 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr16:75127551G>A c.506G>A c.(505-507)cGc>cAc p.R169H COADREAD 16 75127561 75127561 + Nonsense_Mutation SNP C C A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr16:75127561C>A c.516C>A c.(514-516)taC>taA p.Y172* GBMLGG 16 75127493 75127493 + Missense_Mutation SNP A A G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 g.chr16:75127493A>G c.448A>G c.(448-450)Aag>Gag p.K150E KIPAN 16 75127548 75127548 + Missense_Mutation SNP C C G TCGA-V9-A7HT-01A-11D-A33Q-10 TCGA-V9-A7HT-10A-01D-A33Q-10 g.chr16:75127548C>G c.503C>G c.(502-504)cCt>cGt p.P168R KIRP 16 75127548 75127548 + Missense_Mutation SNP C C G TCGA-V9-A7HT-01A-11D-A33Q-10 TCGA-V9-A7HT-10A-01D-A33Q-10 g.chr16:75127548C>G c.503C>G c.(502-504)cCt>cGt p.P168R LGG 16 75127493 75127493 + Missense_Mutation SNP A A G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 g.chr16:75127493A>G c.448A>G c.(448-450)Aag>Gag p.K150E LIHC 16 75033762 75033762 + Frame_Shift_Del DEL G G - TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr16:75033762delG c.193delG c.(193-195)gggfs p.G66fs LIHC 16 75033861 75033861 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr16:75033861G>A c.292G>A c.(292-294)Gcc>Acc p.A98T LIHC 16 75033939 75033939 + Missense_Mutation SNP C C A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr16:75033939C>A c.370C>A c.(370-372)Ctg>Atg p.L124M LUAD 16 75127510 75127510 + Missense_Mutation SNP C C G TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr16:75127510C>G c.465C>G c.(463-465)gaC>gaG p.D155E LUAD 16 75127513 75127513 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr16:75127513G>C c.468G>C c.(466-468)gaG>gaC p.E156D PAAD 16 75138699 75138699 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:75138699G>T c.538G>T c.(538-540)Gac>Tac p.D180Y SKCM 16 75033985 75033985 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr16:75033985C>T c.416C>T c.(415-417)tCg>tTg p.S139L SKCM 16 75127483 75127483 + Silent SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr16:75127483C>T c.438C>T c.(436-438)ccC>ccT p.P146P SKCM 16 75140409 75140409 + Missense_Mutation SNP G G T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 g.chr16:75140409G>T c.656G>T c.(655-657)aGa>aTa p.R219I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 16 75028300 75028300 single base substitution C A upstream_gene_variant BRCA-EU 16 75033544 75033544 single base substitution C T 5_prime_UTR_variant BRCA-EU 16 75033544 75033544 single base substitution C T upstream_gene_variant BRCA-EU 16 75037935 75037935 single base substitution T C intron_variant BRCA-EU 16 75039167 75039167 single base substitution T C intron_variant BRCA-EU 16 75044533 75044533 single base substitution C G intron_variant BRCA-EU 16 75046558 75046558 single base substitution C T intron_variant BRCA-EU 16 75047533 75047533 single base substitution G A intron_variant BRCA-EU 16 75049911 75049911 single base substitution C T intron_variant BRCA-EU 16 75050529 75050529 single base substitution G A intron_variant BRCA-EU 16 75054470 75054470 single base substitution C T intron_variant BRCA-EU 16 75055978 75055978 single base substitution C T intron_variant BRCA-EU 16 75056577 75056577 single base substitution T A intron_variant BRCA-EU 16 75056869 75056869 single base substitution C T intron_variant BRCA-EU 16 75057080 75057080 single base substitution A C intron_variant BRCA-EU 16 75057958 75057958 single base substitution G A intron_variant BRCA-EU 16 75058004 75058017 deletion of <=200bp GTGATCCACCTGCC - intron_variant BRCA-EU 16 75060812 75060812 single base substitution G C intron_variant BRCA-EU 16 75061976 75061976 single base substitution C T intron_variant BRCA-EU 16 75061981 75061981 single base substitution T C intron_variant BRCA-EU 16 75065354 75065354 single base substitution T G intron_variant BRCA-EU 16 75065880 75065880 single base substitution C G intron_variant BRCA-EU 16 75066242 75066242 single base substitution G T intron_variant BRCA-EU 16 75069089 75069089 single base substitution G C intron_variant BRCA-EU 16 75069288 75069288 single base substitution C G intron_variant BRCA-EU 16 75072545 75072545 insertion of <=200bp - TT intron_variant BRCA-EU 16 75072940 75072940 single base substitution C T intron_variant BRCA-EU 16 75073425 75073425 single base substitution G C intron_variant BRCA-EU 16 75073652 75073652 single base substitution C T intron_variant BRCA-EU 16 75073701 75073701 single base substitution C T intron_variant BRCA-EU 16 75074066 75074066 single base substitution C T intron_variant BRCA-EU 16 75077151 75077151 single base substitution C G intron_variant BRCA-EU 16 75077310 75077312 deletion of <=200bp TTC - intron_variant BRCA-EU 16 75077982 75077982 single base substitution A T intron_variant BRCA-EU 16 75080218 75080218 single base substitution C T intron_variant BRCA-EU 16 75081326 75081326 single base substitution G C intron_variant BRCA-EU 16 75086614 75086614 single base substitution C G intron_variant BRCA-EU 16 75087886 75087886 single base substitution C G intron_variant BRCA-EU 16 75090609 75090609 single base substitution C G intron_variant BRCA-EU 16 75091244 75091244 single base substitution G C intron_variant BRCA-EU 16 75091493 75091493 single base substitution G T intron_variant BRCA-EU 16 75091951 75091951 single base substitution T A intron_variant BRCA-EU 16 75093140 75093140 single base substitution T C intron_variant BRCA-EU 16 75094331 75094331 single base substitution T C intron_variant BRCA-EU 16 75095845 75095845 single base substitution C T intron_variant BRCA-EU 16 75095980 75095980 single base substitution G A intron_variant BRCA-EU 16 75098760 75098760 single base substitution G A intron_variant BRCA-EU 16 75098781 75098781 single base substitution C G intron_variant BRCA-EU 16 75099190 75099190 single base substitution G A intron_variant BRCA-EU 16 75101740 75101740 single base substitution A T intron_variant BRCA-EU 16 75102561 75102561 single base substitution G T intron_variant BRCA-EU 16 75102816 75102816 single base substitution C T intron_variant BRCA-EU 16 75105663 75105663 single base substitution G C intron_variant BRCA-EU 16 75105715 75105715 single base substitution G A intron_variant BRCA-EU 16 75107898 75107898 single base substitution A C intron_variant BRCA-EU 16 75108375 75108375 single base substitution G C intron_variant BRCA-EU 16 75109303 75109303 single base substitution G T intron_variant BRCA-EU 16 75110767 75110767 single base substitution G C intron_variant BRCA-EU 16 75111525 75111525 single base substitution C A intron_variant BRCA-EU 16 75111827 75111827 single base substitution G C intron_variant BRCA-EU 16 75112016 75112016 single base substitution C G intron_variant BRCA-EU 16 75113002 75113002 single base substitution G C intron_variant BRCA-EU 16 75113888 75113888 single base substitution G A intron_variant BRCA-EU 16 75115146 75115146 single base substitution G T intron_variant BRCA-EU 16 75115402 75115402 single base substitution G A intron_variant BRCA-EU 16 75118998 75118998 single base substitution G C intron_variant BRCA-EU 16 75119204 75119204 single base substitution T C intron_variant BRCA-EU 16 75119907 75119907 single base substitution A G intron_variant BRCA-EU 16 75119918 75119918 single base substitution A G intron_variant BRCA-EU 16 75120330 75120330 single base substitution A G intron_variant BRCA-EU 16 75120445 75120445 single base substitution G A intron_variant BRCA-EU 16 75121142 75121142 single base substitution A T intron_variant BRCA-EU 16 75121576 75121576 single base substitution C T intron_variant BRCA-EU 16 75124037 75124037 single base substitution G T intron_variant BRCA-EU 16 75124479 75124479 single base substitution C G intron_variant BRCA-EU 16 75124479 75124479 single base substitution C G upstream_gene_variant BRCA-EU 16 75125212 75125212 single base substitution G A intron_variant BRCA-EU 16 75125212 75125212 single base substitution G A upstream_gene_variant BRCA-EU 16 75126563 75126563 single base substitution C T intron_variant BRCA-EU 16 75126563 75126563 single base substitution C T upstream_gene_variant BRCA-EU 16 75127054 75127054 single base substitution G A intron_variant BRCA-EU 16 75127054 75127054 single base substitution G A upstream_gene_variant BRCA-EU 16 75129257 75129257 single base substitution C T intron_variant BRCA-EU 16 75129785 75129785 single base substitution C G intron_variant BRCA-EU 16 75131653 75131653 single base substitution A G intron_variant BRCA-EU 16 75133810 75133810 single base substitution G C intron_variant BRCA-EU 16 75133810 75133810 single base substitution G C upstream_gene_variant BRCA-EU 16 75134273 75134273 single base substitution T C intron_variant BRCA-EU 16 75134273 75134273 single base substitution T C upstream_gene_variant BRCA-EU 16 75134399 75134399 single base substitution C G intron_variant BRCA-EU 16 75134399 75134399 single base substitution C G upstream_gene_variant BRCA-EU 16 75134689 75134689 single base substitution G C intron_variant BRCA-EU 16 75134689 75134689 single base substitution G C upstream_gene_variant BRCA-EU 16 75135451 75135451 single base substitution A G intron_variant BRCA-EU 16 75135451 75135451 single base substitution A G upstream_gene_variant BRCA-EU 16 75137407 75137407 single base substitution G A intron_variant BRCA-EU 16 75137407 75137407 single base substitution G A upstream_gene_variant BRCA-EU 16 75137456 75137456 single base substitution C T intron_variant BRCA-EU 16 75137456 75137456 single base substitution C T upstream_gene_variant BRCA-EU 16 75137786 75137786 single base substitution G A intron_variant BRCA-EU 16 75137786 75137786 single base substitution G A upstream_gene_variant BRCA-EU 16 75137901 75137901 deletion of <=200bp G - intron_variant BRCA-EU 16 75137901 75137901 deletion of <=200bp G - upstream_gene_variant BRCA-EU 16 75139717 75139717 single base substitution G A downstream_gene_variant BRCA-EU 16 75139717 75139717 single base substitution G A exon_variant BRCA-EU 16 75139717 75139717 single base substitution G A intron_variant BRCA-EU 16 75139728 75139728 single base substitution T A downstream_gene_variant BRCA-EU 16 75139728 75139728 single base substitution T A exon_variant BRCA-EU 16 75139728 75139728 single base substitution T A intron_variant BRCA-EU 16 75140463 75140463 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 75140463 75140463 single base substitution C G downstream_gene_variant BRCA-EU 16 75140463 75140463 single base substitution C G exon_variant BRCA-EU 16 75140463 75140463 single base substitution C G intron_variant BRCA-EU 16 75141701 75141701 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 75141701 75141701 single base substitution C T downstream_gene_variant BRCA-EU 16 75141701 75141701 single base substitution C T exon_variant BRCA-EU 16 75141701 75141701 single base substitution C T intron_variant BRCA-EU 16 75141701 75141701 single base substitution C T missense_variant R59W 175C>T BRCA-EU 16 75142527 75142527 single base substitution A G 3_prime_UTR_variant BRCA-EU 16 75142527 75142527 single base substitution A G downstream_gene_variant BRCA-EU 16 75142527 75142527 single base substitution A G exon_variant BRCA-EU 16 75142536 75142536 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 75142536 75142536 single base substitution C G downstream_gene_variant BRCA-EU 16 75142536 75142536 single base substitution C G exon_variant BRCA-EU 16 75143458 75143458 single base substitution A C 3_prime_UTR_variant BRCA-EU 16 75143458 75143458 single base substitution A C downstream_gene_variant BRCA-EU 16 75143458 75143458 single base substitution A C exon_variant BRCA-EU 16 75147467 75147467 single base substitution C T downstream_gene_variant BRCA-EU 16 75149459 75149459 single base substitution C T downstream_gene_variant BRCA-FR 16 75029816 75029816 single base substitution A C upstream_gene_variant BRCA-FR 16 75035161 75035161 single base substitution G A intron_variant BRCA-FR 16 75035161 75035161 single base substitution G A upstream_gene_variant BRCA-FR 16 75060812 75060812 single base substitution G C intron_variant BRCA-FR 16 75065354 75065354 single base substitution T G intron_variant BRCA-FR 16 75065880 75065880 single base substitution C G intron_variant BRCA-FR 16 75073425 75073425 single base substitution G C intron_variant BRCA-FR 16 75090609 75090609 single base substitution C G intron_variant BRCA-FR 16 75091244 75091244 single base substitution G C intron_variant BRCA-FR 16 75111827 75111827 single base substitution G C intron_variant BRCA-FR 16 75116903 75116903 single base substitution C G intron_variant BRCA-FR 16 75139728 75139728 single base substitution T A downstream_gene_variant BRCA-FR 16 75139728 75139728 single base substitution T A exon_variant BRCA-FR 16 75139728 75139728 single base substitution T A intron_variant BRCA-FR 16 75143348 75143348 single base substitution C T 3_prime_UTR_variant BRCA-FR 16 75143348 75143348 single base substitution C T downstream_gene_variant BRCA-FR 16 75143348 75143348 single base substitution C T exon_variant BRCA-UK 16 75102561 75102561 single base substitution G T intron_variant BRCA-UK 16 75120445 75120445 single base substitution G A intron_variant BRCA-US 16 75033946 75033946 single base substitution A G missense_variant D126G 377A>G BRCA-US 16 75033946 75033946 single base substitution A G upstream_gene_variant BRCA-US 16 75033986 75033986 single base substitution G A synonymous_variant S139S 417G>A BRCA-US 16 75033986 75033986 single base substitution G A upstream_gene_variant BRCA-US 16 75138732 75138732 single base substitution C G exon_variant BRCA-US 16 75138732 75138732 single base substitution C G missense_variant L17V 49C>G BRCA-US 16 75138732 75138732 single base substitution C G missense_variant L191V 571C>G BRCA-US 16 75138732 75138732 single base substitution C G missense_variant L242V 724C>G BRCA-US 16 75138732 75138732 single base substitution C G missense_variant L35V 103C>G BRCA-US 16 75138732 75138732 single base substitution C G upstream_gene_variant BRCA-US 16 75146546 75146546 single base substitution C A downstream_gene_variant BTCA-JP 16 75033664 75033664 single base substitution C G missense_variant P32R 95C>G BTCA-JP 16 75033664 75033664 single base substitution C G upstream_gene_variant BTCA-JP 16 75138664 75138664 single base substitution C T exon_variant BTCA-JP 16 75138664 75138664 single base substitution C T intron_variant BTCA-JP 16 75138664 75138664 single base substitution C T upstream_gene_variant BTCA-JP 16 75146221 75146221 single base substitution A G downstream_gene_variant BTCA-JP 16 75147730 75147730 single base substitution A G downstream_gene_variant BTCA-JP 16 75149041 75149041 single base substitution T C downstream_gene_variant CESC-US 16 75033937 75033937 single base substitution C T missense_variant S123L 368C>T CESC-US 16 75033937 75033937 single base substitution C T upstream_gene_variant CESC-US 16 75142719 75142719 single base substitution C T 3_prime_UTR_variant CESC-US 16 75142719 75142719 single base substitution C T downstream_gene_variant CESC-US 16 75142719 75142719 single base substitution C T exon_variant CESC-US 16 75148453 75148453 single base substitution C T downstream_gene_variant CESC-US 16 75148489 75148489 single base substitution G C downstream_gene_variant CLLE-ES 16 75035373 75035373 single base substitution C A intron_variant CLLE-ES 16 75035373 75035373 single base substitution C A upstream_gene_variant CLLE-ES 16 75037715 75037715 single base substitution C T intron_variant CLLE-ES 16 75040323 75040323 single base substitution C T intron_variant CLLE-ES 16 75041059 75041059 single base substitution G A intron_variant CLLE-ES 16 75065093 75065093 single base substitution G A intron_variant CLLE-ES 16 75073582 75073582 single base substitution C A intron_variant CLLE-ES 16 75073970 75073970 single base substitution T A intron_variant CLLE-ES 16 75084782 75084797 deletion of <=200bp AAAAACAAAAAAAAAC - intron_variant CLLE-ES 16 75085345 75085345 single base substitution G T intron_variant CLLE-ES 16 75087807 75087807 single base substitution T C intron_variant CLLE-ES 16 75111789 75111792 deletion of <=200bp CTCT - intron_variant CLLE-ES 16 75120890 75120890 single base substitution G A intron_variant CLLE-ES 16 75134640 75134640 single base substitution T C intron_variant CLLE-ES 16 75134640 75134640 single base substitution T C upstream_gene_variant COAD-US 16 75127551 75127551 single base substitution G A exon_variant COAD-US 16 75127551 75127551 single base substitution G A missense_variant R13H 38G>A COAD-US 16 75127551 75127551 single base substitution G A missense_variant R169H 506G>A COAD-US 16 75127551 75127551 single base substitution G A upstream_gene_variant COAD-US 16 75146526 75146526 single base substitution G C downstream_gene_variant COAD-US 16 75146578 75146578 single base substitution A G downstream_gene_variant COAD-US 16 75147882 75147882 single base substitution C A downstream_gene_variant COAD-US 16 75148774 75148774 single base substitution G C downstream_gene_variant COAD-US 16 75148843 75148843 single base substitution C T downstream_gene_variant COAD-US 16 75148864 75148864 single base substitution G A downstream_gene_variant COCA-CN 16 75127608 75127608 single base substitution G A intron_variant COCA-CN 16 75127608 75127608 single base substitution G A upstream_gene_variant COCA-CN 16 75138927 75138927 single base substitution A G downstream_gene_variant COCA-CN 16 75138927 75138927 single base substitution A G exon_variant COCA-CN 16 75138927 75138927 single base substitution A G intron_variant COCA-CN 16 75138927 75138927 single base substitution A G upstream_gene_variant COCA-CN 16 75146601 75146601 single base substitution G A downstream_gene_variant COCA-CN 16 75148569 75148569 single base substitution C T downstream_gene_variant EOPC-DE 16 75028949 75028949 single base substitution T C upstream_gene_variant EOPC-DE 16 75084403 75084403 single base substitution A G intron_variant ESAD-UK 16 75030167 75030167 single base substitution G C upstream_gene_variant ESAD-UK 16 75033002 75033002 single base substitution G A 5_prime_UTR_variant ESAD-UK 16 75033002 75033002 single base substitution G A upstream_gene_variant ESAD-UK 16 75034311 75034311 single base substitution A C intron_variant ESAD-UK 16 75034311 75034311 single base substitution A C upstream_gene_variant ESAD-UK 16 75036370 75036370 single base substitution C T intron_variant ESAD-UK 16 75036705 75036705 single base substitution G A intron_variant ESAD-UK 16 75037961 75037961 single base substitution T C intron_variant ESAD-UK 16 75041062 75041062 single base substitution C T intron_variant ESAD-UK 16 75042546 75042546 single base substitution C T intron_variant ESAD-UK 16 75047162 75047162 single base substitution T C intron_variant ESAD-UK 16 75052338 75052338 single base substitution G C intron_variant ESAD-UK 16 75052418 75052418 single base substitution A G intron_variant ESAD-UK 16 75052762 75052762 single base substitution T C intron_variant ESAD-UK 16 75052838 75052838 single base substitution C A intron_variant ESAD-UK 16 75059179 75059179 single base substitution G T intron_variant ESAD-UK 16 75062747 75062747 single base substitution A G intron_variant ESAD-UK 16 75071786 75071786 single base substitution C G intron_variant ESAD-UK 16 75072031 75072031 single base substitution T C intron_variant ESAD-UK 16 75073514 75073514 single base substitution T A intron_variant ESAD-UK 16 75075726 75075726 single base substitution A T intron_variant ESAD-UK 16 75078152 75078152 single base substitution G A intron_variant ESAD-UK 16 75080834 75080834 single base substitution A G intron_variant ESAD-UK 16 75082911 75082911 single base substitution T C intron_variant ESAD-UK 16 75087370 75087370 single base substitution C G intron_variant ESAD-UK 16 75090466 75090466 single base substitution A G intron_variant ESAD-UK 16 75093247 75093247 single base substitution G A intron_variant ESAD-UK 16 75096447 75096447 single base substitution A T intron_variant ESAD-UK 16 75098043 75098043 insertion of <=200bp - A intron_variant ESAD-UK 16 75098436 75098436 single base substitution A G intron_variant ESAD-UK 16 75098869 75098869 single base substitution C T intron_variant ESAD-UK 16 75099319 75099319 insertion of <=200bp - A intron_variant ESAD-UK 16 75101222 75101222 single base substitution G A intron_variant ESAD-UK 16 75106005 75106005 single base substitution T A intron_variant ESAD-UK 16 75106135 75106135 single base substitution G A intron_variant ESAD-UK 16 75108212 75108212 single base substitution G T intron_variant ESAD-UK 16 75108854 75108854 single base substitution A G intron_variant ESAD-UK 16 75108933 75108933 single base substitution C G intron_variant ESAD-UK 16 75109506 75109506 single base substitution G A intron_variant ESAD-UK 16 75110898 75110898 single base substitution G A intron_variant ESAD-UK 16 75112398 75112398 single base substitution C T intron_variant ESAD-UK 16 75114443 75114443 single base substitution G T intron_variant ESAD-UK 16 75117183 75117183 single base substitution C T intron_variant ESAD-UK 16 75118442 75118442 single base substitution A T 5_prime_UTR_variant ESAD-UK 16 75118442 75118442 single base substitution A T intron_variant ESAD-UK 16 75124802 75124802 single base substitution A G intron_variant ESAD-UK 16 75124802 75124802 single base substitution A G upstream_gene_variant ESAD-UK 16 75127020 75127020 single base substitution T G intron_variant ESAD-UK 16 75127020 75127020 single base substitution T G upstream_gene_variant ESAD-UK 16 75127604 75127604 single base substitution C T intron_variant ESAD-UK 16 75127604 75127604 single base substitution C T upstream_gene_variant ESAD-UK 16 75132919 75132919 single base substitution G A intron_variant ESAD-UK 16 75133848 75133848 single base substitution A G intron_variant ESAD-UK 16 75133848 75133848 single base substitution A G upstream_gene_variant ESAD-UK 16 75134317 75134317 single base substitution C A intron_variant ESAD-UK 16 75134317 75134317 single base substitution C A upstream_gene_variant ESAD-UK 16 75134689 75134689 single base substitution G A intron_variant ESAD-UK 16 75134689 75134689 single base substitution G A upstream_gene_variant ESAD-UK 16 75135428 75135428 single base substitution G A intron_variant ESAD-UK 16 75135428 75135428 single base substitution G A upstream_gene_variant ESAD-UK 16 75136966 75136966 single base substitution G A intron_variant ESAD-UK 16 75136966 75136966 single base substitution G A upstream_gene_variant ESAD-UK 16 75137681 75137681 single base substitution G A intron_variant ESAD-UK 16 75137681 75137681 single base substitution G A upstream_gene_variant ESAD-UK 16 75139568 75139568 single base substitution G A downstream_gene_variant ESAD-UK 16 75139568 75139568 single base substitution G A exon_variant ESAD-UK 16 75139568 75139568 single base substitution G A intron_variant ESAD-UK 16 75140259 75140259 single base substitution G T downstream_gene_variant ESAD-UK 16 75140259 75140259 single base substitution G T exon_variant ESAD-UK 16 75140259 75140259 single base substitution G T intron_variant ESAD-UK 16 75140985 75140985 single base substitution G A downstream_gene_variant ESAD-UK 16 75140985 75140985 single base substitution G A exon_variant ESAD-UK 16 75140985 75140985 single base substitution G A intron_variant ESAD-UK 16 75141951 75141951 single base substitution C A 3_prime_UTR_variant ESAD-UK 16 75141951 75141951 single base substitution C A downstream_gene_variant ESAD-UK 16 75141951 75141951 single base substitution C A exon_variant ESAD-UK 16 75144830 75144830 single base substitution T C 3_prime_UTR_variant ESAD-UK 16 75144830 75144830 single base substitution T C downstream_gene_variant ESAD-UK 16 75148010 75148010 single base substitution G A downstream_gene_variant ESAD-UK 16 75148743 75148743 single base substitution C T downstream_gene_variant ESAD-UK 16 75149777 75149777 single base substitution C T downstream_gene_variant ESCA-CN 16 75149463 75149463 single base substitution G A downstream_gene_variant GBM-US 16 75140419 75140419 deletion of <=200bp G - downstream_gene_variant GBM-US 16 75140419 75140419 deletion of <=200bp G - exon_variant GBM-US 16 75140419 75140419 deletion of <=200bp G - frameshift_variant P222 GBM-US 16 75140419 75140419 deletion of <=200bp G - frameshift_variant P273 GBM-US 16 75140419 75140419 deletion of <=200bp G - intron_variant LAML-KR 16 75032885 75032885 single base substitution A G upstream_gene_variant LAML-KR 16 75063731 75063731 single base substitution G A intron_variant LAML-KR 16 75119717 75119717 single base substitution T A intron_variant LICA-FR 16 75031728 75031728 single base substitution G A upstream_gene_variant LICA-FR 16 75031877 75031877 single base substitution T C upstream_gene_variant LICA-FR 16 75037151 75037151 single base substitution C T intron_variant LICA-FR 16 75073941 75073948 deletion of <=200bp TTTTTTTT - intron_variant LICA-FR 16 75079615 75079615 deletion of <=200bp T - intron_variant LICA-FR 16 75083688 75083688 single base substitution T A intron_variant LICA-FR 16 75083744 75083744 insertion of <=200bp - TGTG intron_variant LICA-FR 16 75083811 75083811 single base substitution A T intron_variant LICA-FR 16 75095019 75095019 single base substitution A G intron_variant LICA-FR 16 75103954 75103954 single base substitution A G intron_variant LICA-FR 16 75107017 75107017 insertion of <=200bp - TC intron_variant LICA-FR 16 75115134 75115134 single base substitution T A intron_variant LICA-FR 16 75119449 75119449 single base substitution T G intron_variant LICA-FR 16 75125431 75125431 deletion of <=200bp T - intron_variant LICA-FR 16 75125431 75125431 deletion of <=200bp T - upstream_gene_variant LICA-FR 16 75127482 75127482 single base substitution C A 5_prime_UTR_variant LICA-FR 16 75127482 75127482 single base substitution C A exon_variant LICA-FR 16 75127482 75127482 single base substitution C A missense_variant P146H 437C>A LICA-FR 16 75127482 75127482 single base substitution C A upstream_gene_variant LICA-FR 16 75143579 75143586 deletion of <=200bp TGGCAGAA - 3_prime_UTR_variant LICA-FR 16 75143579 75143586 deletion of <=200bp TGGCAGAA - downstream_gene_variant LICA-FR 16 75143579 75143586 deletion of <=200bp TGGCAGAA - exon_variant LIHC-US 16 75147448 75147448 single base substitution C A downstream_gene_variant LINC-JP 16 75029983 75029983 single base substitution C G upstream_gene_variant LINC-JP 16 75035227 75035227 single base substitution T G intron_variant LINC-JP 16 75035227 75035227 single base substitution T G upstream_gene_variant LINC-JP 16 75037872 75037872 single base substitution C T intron_variant LINC-JP 16 75041246 75041246 single base substitution C T intron_variant LINC-JP 16 75067287 75067287 single base substitution T C intron_variant LINC-JP 16 75072759 75072759 deletion of <=200bp T - intron_variant LINC-JP 16 75084937 75084937 single base substitution A G intron_variant LINC-JP 16 75086548 75086548 single base substitution C A intron_variant LINC-JP 16 75102989 75102989 single base substitution A T intron_variant LINC-JP 16 75102997 75102997 single base substitution C T intron_variant LINC-JP 16 75107450 75107450 single base substitution C A intron_variant LINC-JP 16 75118866 75118866 single base substitution T C intron_variant LINC-JP 16 75126556 75126556 single base substitution A T intron_variant LINC-JP 16 75126556 75126556 single base substitution A T upstream_gene_variant LINC-JP 16 75148047 75148047 single base substitution A T downstream_gene_variant LIRI-JP 16 75028700 75028700 single base substitution G T upstream_gene_variant LIRI-JP 16 75031808 75031808 single base substitution G T upstream_gene_variant LIRI-JP 16 75035644 75035644 single base substitution G A intron_variant LIRI-JP 16 75035644 75035644 single base substitution G A upstream_gene_variant LIRI-JP 16 75037155 75037155 single base substitution C A intron_variant LIRI-JP 16 75040026 75040026 single base substitution G T intron_variant LIRI-JP 16 75041828 75041828 single base substitution A G intron_variant LIRI-JP 16 75042271 75042271 single base substitution A G intron_variant LIRI-JP 16 75042422 75042422 single base substitution G T intron_variant LIRI-JP 16 75042792 75042792 single base substitution G T intron_variant LIRI-JP 16 75044815 75044815 single base substitution C A intron_variant LIRI-JP 16 75046709 75046709 single base substitution A T intron_variant LIRI-JP 16 75046926 75046926 single base substitution A C intron_variant LIRI-JP 16 75049907 75049907 single base substitution C A intron_variant LIRI-JP 16 75052648 75052648 single base substitution T C intron_variant LIRI-JP 16 75053373 75053373 single base substitution A G intron_variant LIRI-JP 16 75059328 75059328 single base substitution A G intron_variant LIRI-JP 16 75059652 75059652 single base substitution A T intron_variant LIRI-JP 16 75061293 75061293 single base substitution G T intron_variant LIRI-JP 16 75061418 75061418 single base substitution T G intron_variant LIRI-JP 16 75065543 75065543 single base substitution T C intron_variant LIRI-JP 16 75067479 75067479 single base substitution G A intron_variant LIRI-JP 16 75068327 75068327 single base substitution A T intron_variant LIRI-JP 16 75075256 75075256 single base substitution C G intron_variant LIRI-JP 16 75077094 75077094 single base substitution C A intron_variant LIRI-JP 16 75078070 75078070 single base substitution A G intron_variant LIRI-JP 16 75079208 75079208 single base substitution C T intron_variant LIRI-JP 16 75080900 75080900 insertion of <=200bp - T intron_variant LIRI-JP 16 75081064 75081064 single base substitution C T intron_variant LIRI-JP 16 75082169 75082169 single base substitution A G intron_variant LIRI-JP 16 75083595 75083595 single base substitution G A intron_variant LIRI-JP 16 75083771 75083771 single base substitution T G intron_variant LIRI-JP 16 75085584 75085584 single base substitution T G intron_variant LIRI-JP 16 75087728 75087728 single base substitution A T intron_variant LIRI-JP 16 75090022 75090022 single base substitution T A intron_variant LIRI-JP 16 75090489 75090489 single base substitution A G intron_variant LIRI-JP 16 75091182 75091182 single base substitution A T intron_variant LIRI-JP 16 75091586 75091586 single base substitution C T intron_variant LIRI-JP 16 75095606 75095606 single base substitution C T intron_variant LIRI-JP 16 75098416 75098416 single base substitution T C intron_variant LIRI-JP 16 75099027 75099027 single base substitution C G intron_variant LIRI-JP 16 75101051 75101051 single base substitution A G intron_variant LIRI-JP 16 75103000 75103000 single base substitution C T intron_variant LIRI-JP 16 75103759 75103759 single base substitution A G intron_variant LIRI-JP 16 75103908 75103908 single base substitution A G intron_variant LIRI-JP 16 75108357 75108357 single base substitution T C intron_variant LIRI-JP 16 75109643 75109643 single base substitution A T intron_variant LIRI-JP 16 75112480 75112480 single base substitution A T intron_variant LIRI-JP 16 75113138 75113138 single base substitution G A intron_variant LIRI-JP 16 75114766 75114766 single base substitution T A intron_variant LIRI-JP 16 75116387 75116387 single base substitution A G intron_variant LIRI-JP 16 75117642 75117642 single base substitution T G intron_variant LIRI-JP 16 75122988 75122988 single base substitution G C intron_variant LIRI-JP 16 75123792 75123792 single base substitution A G intron_variant LIRI-JP 16 75124273 75124273 single base substitution G C intron_variant LIRI-JP 16 75124273 75124273 single base substitution G C upstream_gene_variant LIRI-JP 16 75126706 75126706 single base substitution T C intron_variant LIRI-JP 16 75126706 75126706 single base substitution T C upstream_gene_variant LIRI-JP 16 75126795 75126795 single base substitution T C intron_variant LIRI-JP 16 75126795 75126795 single base substitution T C upstream_gene_variant LIRI-JP 16 75128198 75128198 single base substitution C A intron_variant LIRI-JP 16 75128198 75128198 single base substitution C A upstream_gene_variant LIRI-JP 16 75128825 75128825 single base substitution A T intron_variant LIRI-JP 16 75128825 75128825 single base substitution A T upstream_gene_variant LIRI-JP 16 75130191 75130191 single base substitution C G intron_variant LIRI-JP 16 75131539 75131539 single base substitution G A intron_variant LIRI-JP 16 75134065 75134065 single base substitution C T intron_variant LIRI-JP 16 75134065 75134065 single base substitution C T upstream_gene_variant LIRI-JP 16 75134342 75134342 single base substitution G T intron_variant LIRI-JP 16 75134342 75134342 single base substitution G T upstream_gene_variant LIRI-JP 16 75135230 75135230 single base substitution G A intron_variant LIRI-JP 16 75135230 75135230 single base substitution G A upstream_gene_variant LIRI-JP 16 75135269 75135269 single base substitution T G intron_variant LIRI-JP 16 75135269 75135269 single base substitution T G upstream_gene_variant LIRI-JP 16 75135662 75135662 single base substitution C T intron_variant LIRI-JP 16 75135662 75135662 single base substitution C T upstream_gene_variant LIRI-JP 16 75136789 75136789 single base substitution C T intron_variant LIRI-JP 16 75136789 75136789 single base substitution C T upstream_gene_variant LIRI-JP 16 75137449 75137449 single base substitution A G intron_variant LIRI-JP 16 75137449 75137449 single base substitution A G upstream_gene_variant LIRI-JP 16 75139336 75139336 single base substitution T C downstream_gene_variant LIRI-JP 16 75139336 75139336 single base substitution T C exon_variant LIRI-JP 16 75139336 75139336 single base substitution T C intron_variant LIRI-JP 16 75142895 75142895 single base substitution A T 3_prime_UTR_variant LIRI-JP 16 75142895 75142895 single base substitution A T downstream_gene_variant LIRI-JP 16 75142895 75142895 single base substitution A T exon_variant LIRI-JP 16 75143990 75143990 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 75143990 75143990 single base substitution G A downstream_gene_variant LIRI-JP 16 75143990 75143990 single base substitution G A exon_variant LIRI-JP 16 75147125 75147125 single base substitution C A downstream_gene_variant LIRI-JP 16 75147752 75147752 single base substitution G A downstream_gene_variant LIRI-JP 16 75148863 75148863 single base substitution C T downstream_gene_variant LUSC-KR 16 75030036 75030036 single base substitution A T upstream_gene_variant LUSC-KR 16 75033624 75033624 single base substitution T C missense_variant S19P 55T>C LUSC-KR 16 75033624 75033624 single base substitution T C upstream_gene_variant LUSC-KR 16 75034037 75034037 single base substitution G T intron_variant LUSC-KR 16 75034037 75034037 single base substitution G T upstream_gene_variant LUSC-KR 16 75038537 75038537 single base substitution G T intron_variant LUSC-KR 16 75043870 75043870 single base substitution G C intron_variant LUSC-KR 16 75046520 75046520 single base substitution G T intron_variant LUSC-KR 16 75049604 75049604 single base substitution C A intron_variant LUSC-KR 16 75064876 75064876 single base substitution G C intron_variant LUSC-KR 16 75070173 75070173 single base substitution G A intron_variant LUSC-KR 16 75074070 75074070 single base substitution G T intron_variant LUSC-KR 16 75078623 75078623 single base substitution A G intron_variant LUSC-KR 16 75081849 75081849 single base substitution A T intron_variant LUSC-KR 16 75084479 75084479 single base substitution T C intron_variant LUSC-KR 16 75090974 75090974 single base substitution G T intron_variant LUSC-KR 16 75092067 75092067 single base substitution C T intron_variant LUSC-KR 16 75096337 75096337 single base substitution C T intron_variant LUSC-KR 16 75099212 75099212 single base substitution C T intron_variant LUSC-KR 16 75102303 75102303 single base substitution T C intron_variant LUSC-KR 16 75112642 75112642 single base substitution A G intron_variant LUSC-KR 16 75116359 75116359 single base substitution C T intron_variant LUSC-KR 16 75119721 75119721 single base substitution T A intron_variant LUSC-KR 16 75137455 75137455 single base substitution G A intron_variant LUSC-KR 16 75137455 75137455 single base substitution G A upstream_gene_variant LUSC-KR 16 75149557 75149557 single base substitution C G downstream_gene_variant LUSC-US 16 75146331 75146331 single base substitution C T downstream_gene_variant LUSC-US 16 75146775 75146775 single base substitution G T downstream_gene_variant LUSC-US 16 75147555 75147555 single base substitution T C downstream_gene_variant LUSC-US 16 75148012 75148012 single base substitution C G downstream_gene_variant LUSC-US 16 75148111 75148111 single base substitution G C downstream_gene_variant LUSC-US 16 75149143 75149143 single base substitution G T downstream_gene_variant LUSC-US 16 75149456 75149456 single base substitution A T downstream_gene_variant LUSC-US 16 75149555 75149555 single base substitution C G downstream_gene_variant MALY-DE 16 75028812 75028812 deletion of <=200bp A - upstream_gene_variant MALY-DE 16 75030647 75030647 single base substitution C T upstream_gene_variant MALY-DE 16 75043246 75043246 single base substitution T G intron_variant MALY-DE 16 75046266 75046268 deletion of <=200bp AGG - intron_variant MALY-DE 16 75052411 75052411 single base substitution A T intron_variant MALY-DE 16 75056464 75056464 insertion of <=200bp - A intron_variant MALY-DE 16 75070249 75070249 deletion of <=200bp G - intron_variant MALY-DE 16 75070579 75070579 single base substitution C G intron_variant MALY-DE 16 75078637 75078637 single base substitution A T intron_variant MALY-DE 16 75085079 75085079 single base substitution C T intron_variant MALY-DE 16 75085427 75085427 single base substitution T G intron_variant MALY-DE 16 75091047 75091047 single base substitution A G intron_variant MALY-DE 16 75095719 75095719 single base substitution T G intron_variant MALY-DE 16 75097057 75097057 single base substitution T C intron_variant MALY-DE 16 75103215 75103215 single base substitution C G intron_variant MALY-DE 16 75108177 75108177 single base substitution C A intron_variant MALY-DE 16 75109497 75109497 single base substitution A G intron_variant MALY-DE 16 75111963 75111963 single base substitution A G intron_variant MALY-DE 16 75112047 75112047 single base substitution G A intron_variant MALY-DE 16 75119022 75119022 single base substitution C T intron_variant MALY-DE 16 75128038 75128038 single base substitution G A intron_variant MALY-DE 16 75128038 75128038 single base substitution G A upstream_gene_variant MALY-DE 16 75132654 75132654 single base substitution G A intron_variant MELA-AU 16 75028000 75028000 single base substitution C T upstream_gene_variant MELA-AU 16 75028007 75028007 single base substitution C T upstream_gene_variant MELA-AU 16 75028544 75028544 single base substitution C T upstream_gene_variant MELA-AU 16 75028685 75028685 single base substitution A G upstream_gene_variant MELA-AU 16 75029120 75029120 single base substitution G A upstream_gene_variant MELA-AU 16 75029282 75029282 single base substitution T C upstream_gene_variant MELA-AU 16 75030134 75030134 single base substitution C T upstream_gene_variant MELA-AU 16 75030715 75030715 single base substitution G A upstream_gene_variant MELA-AU 16 75030746 75030746 single base substitution C T upstream_gene_variant MELA-AU 16 75031187 75031187 single base substitution A C upstream_gene_variant MELA-AU 16 75031189 75031189 single base substitution C T upstream_gene_variant MELA-AU 16 75031314 75031314 single base substitution G A upstream_gene_variant MELA-AU 16 75031410 75031410 single base substitution C A upstream_gene_variant MELA-AU 16 75032660 75032660 single base substitution C T upstream_gene_variant MELA-AU 16 75033419 75033419 single base substitution C T 5_prime_UTR_variant MELA-AU 16 75033419 75033419 single base substitution C T upstream_gene_variant MELA-AU 16 75035204 75035204 single base substitution C T intron_variant MELA-AU 16 75035204 75035204 single base substitution C T upstream_gene_variant MELA-AU 16 75035495 75035495 single base substitution T C intron_variant MELA-AU 16 75035495 75035495 single base substitution T C upstream_gene_variant MELA-AU 16 75035852 75035852 single base substitution A C intron_variant MELA-AU 16 75035852 75035852 single base substitution A C upstream_gene_variant MELA-AU 16 75036095 75036095 single base substitution T A intron_variant MELA-AU 16 75036095 75036095 single base substitution T A upstream_gene_variant MELA-AU 16 75036122 75036122 single base substitution C T intron_variant MELA-AU 16 75036122 75036122 single base substitution C T upstream_gene_variant MELA-AU 16 75036814 75036814 single base substitution C T intron_variant MELA-AU 16 75036819 75036819 single base substitution C T intron_variant MELA-AU 16 75036982 75036982 single base substitution G C intron_variant MELA-AU 16 75037246 75037246 single base substitution G A intron_variant MELA-AU 16 75037391 75037391 single base substitution C T intron_variant MELA-AU 16 75037811 75037811 single base substitution C T intron_variant MELA-AU 16 75038944 75038944 single base substitution C T intron_variant MELA-AU 16 75040424 75040424 single base substitution C T intron_variant MELA-AU 16 75040428 75040428 single base substitution G A intron_variant MELA-AU 16 75040998 75040998 single base substitution C T intron_variant MELA-AU 16 75041474 75041474 single base substitution A C intron_variant MELA-AU 16 75041573 75041573 single base substitution C T intron_variant MELA-AU 16 75041598 75041598 single base substitution G A intron_variant MELA-AU 16 75041759 75041759 single base substitution T G intron_variant MELA-AU 16 75041877 75041877 single base substitution C T intron_variant MELA-AU 16 75041948 75041948 single base substitution T G intron_variant MELA-AU 16 75042850 75042850 single base substitution C T intron_variant MELA-AU 16 75042872 75042872 single base substitution C T intron_variant MELA-AU 16 75044199 75044199 single base substitution C T intron_variant MELA-AU 16 75044437 75044437 single base substitution C T intron_variant MELA-AU 16 75044461 75044461 single base substitution C G intron_variant MELA-AU 16 75044801 75044801 single base substitution T C intron_variant MELA-AU 16 75045678 75045678 single base substitution A G intron_variant MELA-AU 16 75045703 75045703 single base substitution G A intron_variant MELA-AU 16 75047437 75047437 single base substitution G T intron_variant MELA-AU 16 75047745 75047745 single base substitution C T intron_variant MELA-AU 16 75047766 75047766 single base substitution C T intron_variant MELA-AU 16 75048091 75048091 single base substitution C T intron_variant MELA-AU 16 75048442 75048442 single base substitution C T intron_variant MELA-AU 16 75049271 75049271 single base substitution C T intron_variant MELA-AU 16 75049832 75049832 single base substitution T A intron_variant MELA-AU 16 75050522 75050522 single base substitution C T intron_variant MELA-AU 16 75050761 75050761 single base substitution C T intron_variant MELA-AU 16 75050798 75050798 single base substitution C T intron_variant MELA-AU 16 75050953 75050953 single base substitution C T intron_variant MELA-AU 16 75051137 75051137 single base substitution G C intron_variant MELA-AU 16 75052264 75052264 deletion of <=200bp A - intron_variant MELA-AU 16 75054096 75054096 deletion of <=200bp T - intron_variant MELA-AU 16 75054531 75054531 single base substitution C T intron_variant MELA-AU 16 75054883 75054883 single base substitution C T intron_variant MELA-AU 16 75055093 75055093 single base substitution C T intron_variant MELA-AU 16 75055387 75055387 single base substitution C T intron_variant MELA-AU 16 75055931 75055931 single base substitution C T intron_variant MELA-AU 16 75055961 75055961 single base substitution C T intron_variant MELA-AU 16 75056107 75056107 single base substitution C T intron_variant MELA-AU 16 75056293 75056293 single base substitution C T intron_variant MELA-AU 16 75056605 75056605 single base substitution A T intron_variant MELA-AU 16 75056634 75056634 single base substitution C T intron_variant MELA-AU 16 75056673 75056673 single base substitution C A intron_variant MELA-AU 16 75056706 75056706 single base substitution G A intron_variant MELA-AU 16 75057297 75057297 single base substitution C A intron_variant MELA-AU 16 75057402 75057402 single base substitution C T intron_variant MELA-AU 16 75057476 75057476 single base substitution G A intron_variant MELA-AU 16 75057714 75057714 single base substitution C T intron_variant MELA-AU 16 75061413 75061413 single base substitution C T intron_variant MELA-AU 16 75061516 75061516 single base substitution C T intron_variant MELA-AU 16 75061920 75061920 single base substitution C T intron_variant MELA-AU 16 75062583 75062583 single base substitution C T intron_variant MELA-AU 16 75062819 75062820 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 16 75063404 75063404 single base substitution C T intron_variant MELA-AU 16 75063548 75063548 single base substitution C T intron_variant MELA-AU 16 75063789 75063789 single base substitution C T intron_variant MELA-AU 16 75065263 75065263 single base substitution C T intron_variant MELA-AU 16 75065445 75065445 single base substitution C T intron_variant MELA-AU 16 75065447 75065447 single base substitution C T intron_variant MELA-AU 16 75065798 75065798 single base substitution C T intron_variant MELA-AU 16 75066535 75066535 single base substitution T A intron_variant MELA-AU 16 75067125 75067125 single base substitution C T intron_variant MELA-AU 16 75067318 75067318 single base substitution C T intron_variant MELA-AU 16 75067563 75067563 single base substitution G C intron_variant MELA-AU 16 75067979 75067979 single base substitution C T intron_variant MELA-AU 16 75068073 75068073 single base substitution T G intron_variant MELA-AU 16 75069624 75069624 single base substitution C T intron_variant MELA-AU 16 75070049 75070049 single base substitution G A intron_variant MELA-AU 16 75070283 75070283 single base substitution C T intron_variant MELA-AU 16 75071336 75071336 single base substitution A G intron_variant MELA-AU 16 75071435 75071435 single base substitution C T intron_variant MELA-AU 16 75071494 75071494 single base substitution C T intron_variant MELA-AU 16 75071693 75071693 single base substitution C T intron_variant MELA-AU 16 75071866 75071866 single base substitution C T intron_variant MELA-AU 16 75072398 75072398 single base substitution C T intron_variant MELA-AU 16 75072821 75072821 single base substitution T G intron_variant MELA-AU 16 75072953 75072953 single base substitution C T intron_variant MELA-AU 16 75072970 75072970 single base substitution T C intron_variant MELA-AU 16 75073951 75073951 single base substitution T C intron_variant MELA-AU 16 75073964 75073964 single base substitution T C intron_variant MELA-AU 16 75074602 75074602 single base substitution C T intron_variant MELA-AU 16 75074679 75074679 single base substitution T G intron_variant MELA-AU 16 75075164 75075164 single base substitution C T intron_variant MELA-AU 16 75075570 75075571 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75076159 75076159 single base substitution C T intron_variant MELA-AU 16 75076233 75076233 single base substitution C T intron_variant MELA-AU 16 75076897 75076897 single base substitution C A intron_variant MELA-AU 16 75078101 75078102 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 75078773 75078773 single base substitution C T intron_variant MELA-AU 16 75079923 75079923 single base substitution C T intron_variant MELA-AU 16 75081397 75081397 single base substitution G A intron_variant MELA-AU 16 75081579 75081579 single base substitution A C intron_variant MELA-AU 16 75081665 75081665 single base substitution T C intron_variant MELA-AU 16 75082175 75082175 single base substitution G C intron_variant MELA-AU 16 75082227 75082227 single base substitution C T intron_variant MELA-AU 16 75082435 75082435 single base substitution A G intron_variant MELA-AU 16 75082647 75082647 single base substitution C T intron_variant MELA-AU 16 75083172 75083172 single base substitution G A intron_variant MELA-AU 16 75083829 75083829 single base substitution C T intron_variant MELA-AU 16 75084211 75084211 single base substitution C T intron_variant MELA-AU 16 75084350 75084350 single base substitution G A intron_variant MELA-AU 16 75084438 75084438 single base substitution C T intron_variant MELA-AU 16 75084651 75084652 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75084943 75084943 single base substitution A G intron_variant MELA-AU 16 75085031 75085031 single base substitution C T intron_variant MELA-AU 16 75085237 75085237 single base substitution C T intron_variant MELA-AU 16 75086410 75086410 single base substitution C T intron_variant MELA-AU 16 75086411 75086411 single base substitution C T intron_variant MELA-AU 16 75086554 75086554 single base substitution C T intron_variant MELA-AU 16 75086588 75086588 single base substitution A T intron_variant MELA-AU 16 75086913 75086913 single base substitution G A intron_variant MELA-AU 16 75086998 75087007 deletion of <=200bp AGCTCTATTT - intron_variant MELA-AU 16 75087048 75087048 single base substitution C T intron_variant MELA-AU 16 75087251 75087251 single base substitution C T intron_variant MELA-AU 16 75087756 75087756 single base substitution C T intron_variant MELA-AU 16 75087818 75087818 single base substitution A G intron_variant MELA-AU 16 75087935 75087935 single base substitution G T intron_variant MELA-AU 16 75088232 75088232 single base substitution C T intron_variant MELA-AU 16 75088647 75088647 single base substitution G A intron_variant MELA-AU 16 75088872 75088872 single base substitution C T intron_variant MELA-AU 16 75091624 75091624 single base substitution C T intron_variant MELA-AU 16 75092672 75092672 single base substitution G A intron_variant MELA-AU 16 75092885 75092885 single base substitution G A intron_variant MELA-AU 16 75092967 75092968 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 75093186 75093186 single base substitution C T intron_variant MELA-AU 16 75093399 75093399 single base substitution C T intron_variant MELA-AU 16 75093657 75093657 single base substitution C T intron_variant MELA-AU 16 75093849 75093849 single base substitution C T intron_variant MELA-AU 16 75093986 75093986 single base substitution C T intron_variant MELA-AU 16 75094670 75094670 single base substitution C T intron_variant MELA-AU 16 75095826 75095826 single base substitution T C intron_variant MELA-AU 16 75096721 75096721 single base substitution C T intron_variant MELA-AU 16 75096854 75096854 single base substitution T G intron_variant MELA-AU 16 75097757 75097757 single base substitution T C intron_variant MELA-AU 16 75098750 75098750 single base substitution C T intron_variant MELA-AU 16 75098814 75098814 single base substitution C T intron_variant MELA-AU 16 75099119 75099119 single base substitution C T intron_variant MELA-AU 16 75099481 75099481 single base substitution G A intron_variant MELA-AU 16 75099947 75099948 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 75100116 75100116 single base substitution T C intron_variant MELA-AU 16 75101044 75101044 single base substitution C T intron_variant MELA-AU 16 75101069 75101069 single base substitution C T intron_variant MELA-AU 16 75101198 75101199 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75101550 75101550 single base substitution C T intron_variant MELA-AU 16 75102562 75102562 single base substitution C T intron_variant MELA-AU 16 75102640 75102640 single base substitution A C intron_variant MELA-AU 16 75102733 75102733 single base substitution C T intron_variant MELA-AU 16 75102796 75102796 single base substitution G A intron_variant MELA-AU 16 75102847 75102847 single base substitution C T intron_variant MELA-AU 16 75102869 75102869 single base substitution C T intron_variant MELA-AU 16 75103000 75103000 single base substitution C T intron_variant MELA-AU 16 75103511 75103511 single base substitution C T intron_variant MELA-AU 16 75103813 75103813 single base substitution C T intron_variant MELA-AU 16 75104157 75104157 single base substitution C T intron_variant MELA-AU 16 75104248 75104248 single base substitution C T intron_variant MELA-AU 16 75105079 75105079 single base substitution C T intron_variant MELA-AU 16 75105380 75105380 single base substitution C T intron_variant MELA-AU 16 75105648 75105648 single base substitution T C intron_variant MELA-AU 16 75106426 75106426 single base substitution C T intron_variant MELA-AU 16 75107364 75107364 single base substitution C T intron_variant MELA-AU 16 75108059 75108059 single base substitution C T intron_variant MELA-AU 16 75110138 75110138 single base substitution G A intron_variant MELA-AU 16 75110195 75110195 single base substitution C T intron_variant MELA-AU 16 75110699 75110699 single base substitution G A intron_variant MELA-AU 16 75110725 75110725 single base substitution C T intron_variant MELA-AU 16 75110732 75110732 single base substitution G A intron_variant MELA-AU 16 75111087 75111087 single base substitution G A intron_variant MELA-AU 16 75111658 75111658 single base substitution C T intron_variant MELA-AU 16 75112065 75112065 single base substitution C T intron_variant MELA-AU 16 75112200 75112200 single base substitution T A intron_variant MELA-AU 16 75112282 75112282 single base substitution C T intron_variant MELA-AU 16 75112373 75112373 single base substitution T C intron_variant MELA-AU 16 75113128 75113129 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75113260 75113260 single base substitution C T intron_variant MELA-AU 16 75113325 75113325 single base substitution C T intron_variant MELA-AU 16 75113347 75113347 single base substitution C T intron_variant MELA-AU 16 75114459 75114459 single base substitution C T intron_variant MELA-AU 16 75114925 75114925 single base substitution G C intron_variant MELA-AU 16 75115553 75115554 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 75116038 75116038 single base substitution C T intron_variant MELA-AU 16 75116394 75116394 single base substitution C T intron_variant MELA-AU 16 75116881 75116881 single base substitution G A intron_variant MELA-AU 16 75116917 75116917 single base substitution T A intron_variant MELA-AU 16 75117084 75117084 single base substitution C T intron_variant MELA-AU 16 75117191 75117191 single base substitution G A intron_variant MELA-AU 16 75117549 75117549 single base substitution C T intron_variant MELA-AU 16 75117597 75117597 single base substitution C T intron_variant MELA-AU 16 75117982 75117982 single base substitution C T intron_variant MELA-AU 16 75118746 75118746 single base substitution C T intron_variant MELA-AU 16 75118909 75118909 single base substitution C T intron_variant MELA-AU 16 75119323 75119323 single base substitution C T intron_variant MELA-AU 16 75119515 75119515 single base substitution C T intron_variant MELA-AU 16 75119541 75119541 single base substitution C T intron_variant MELA-AU 16 75120504 75120504 single base substitution C T intron_variant MELA-AU 16 75120524 75120524 single base substitution C T intron_variant MELA-AU 16 75121442 75121443 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75122993 75122993 single base substitution C T intron_variant MELA-AU 16 75123742 75123742 single base substitution C T intron_variant MELA-AU 16 75124323 75124323 single base substitution C T intron_variant MELA-AU 16 75124323 75124323 single base substitution C T upstream_gene_variant MELA-AU 16 75124348 75124348 single base substitution C T intron_variant MELA-AU 16 75124348 75124348 single base substitution C T upstream_gene_variant MELA-AU 16 75124650 75124651 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75124650 75124651 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 75124756 75124756 single base substitution C T intron_variant MELA-AU 16 75124756 75124756 single base substitution C T upstream_gene_variant MELA-AU 16 75125211 75125211 single base substitution C T intron_variant MELA-AU 16 75125211 75125211 single base substitution C T upstream_gene_variant MELA-AU 16 75125283 75125283 single base substitution A G intron_variant MELA-AU 16 75125283 75125283 single base substitution A G upstream_gene_variant MELA-AU 16 75126851 75126851 single base substitution C T intron_variant MELA-AU 16 75126851 75126851 single base substitution C T upstream_gene_variant MELA-AU 16 75127882 75127882 single base substitution C T intron_variant MELA-AU 16 75127882 75127882 single base substitution C T upstream_gene_variant MELA-AU 16 75128765 75128766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75128765 75128766 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 75128945 75128945 single base substitution G A intron_variant MELA-AU 16 75128945 75128945 single base substitution G A upstream_gene_variant MELA-AU 16 75129116 75129116 single base substitution G A intron_variant MELA-AU 16 75129137 75129137 single base substitution C T intron_variant MELA-AU 16 75130046 75130046 single base substitution C T intron_variant MELA-AU 16 75131009 75131009 single base substitution G A intron_variant MELA-AU 16 75132296 75132297 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 75134774 75134774 single base substitution C T intron_variant MELA-AU 16 75134774 75134774 single base substitution C T upstream_gene_variant MELA-AU 16 75135089 75135089 single base substitution C T intron_variant MELA-AU 16 75135089 75135089 single base substitution C T upstream_gene_variant MELA-AU 16 75135655 75135655 single base substitution C T intron_variant MELA-AU 16 75135655 75135655 single base substitution C T upstream_gene_variant MELA-AU 16 75135776 75135776 single base substitution C T intron_variant MELA-AU 16 75135776 75135776 single base substitution C T upstream_gene_variant MELA-AU 16 75135784 75135784 single base substitution C T intron_variant MELA-AU 16 75135784 75135784 single base substitution C T upstream_gene_variant MELA-AU 16 75136003 75136003 single base substitution C T intron_variant MELA-AU 16 75136003 75136003 single base substitution C T upstream_gene_variant MELA-AU 16 75136119 75136119 single base substitution A G intron_variant MELA-AU 16 75136119 75136119 single base substitution A G upstream_gene_variant MELA-AU 16 75136509 75136509 single base substitution C T intron_variant MELA-AU 16 75136509 75136509 single base substitution C T upstream_gene_variant MELA-AU 16 75136856 75136856 single base substitution C T intron_variant MELA-AU 16 75136856 75136856 single base substitution C T upstream_gene_variant MELA-AU 16 75137164 75137165 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 75137164 75137165 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 75137851 75137851 single base substitution C T intron_variant MELA-AU 16 75137851 75137851 single base substitution C T upstream_gene_variant MELA-AU 16 75137918 75137918 single base substitution C T intron_variant MELA-AU 16 75137918 75137918 single base substitution C T upstream_gene_variant MELA-AU 16 75138120 75138120 single base substitution C T exon_variant MELA-AU 16 75138120 75138120 single base substitution C T intron_variant MELA-AU 16 75138120 75138120 single base substitution C T upstream_gene_variant MELA-AU 16 75138222 75138223 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 75138222 75138223 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 75138222 75138223 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 75138756 75138756 single base substitution A T exon_variant MELA-AU 16 75138756 75138756 single base substitution A T missense_variant R199W 595A>T MELA-AU 16 75138756 75138756 single base substitution A T missense_variant R250W 748A>T MELA-AU 16 75138756 75138756 single base substitution A T missense_variant R25W 73A>T MELA-AU 16 75138756 75138756 single base substitution A T missense_variant R43W 127A>T MELA-AU 16 75138756 75138756 single base substitution A T upstream_gene_variant MELA-AU 16 75139083 75139083 single base substitution C T downstream_gene_variant MELA-AU 16 75139083 75139083 single base substitution C T exon_variant MELA-AU 16 75139083 75139083 single base substitution C T intron_variant MELA-AU 16 75139083 75139083 single base substitution C T upstream_gene_variant MELA-AU 16 75139096 75139096 single base substitution T A downstream_gene_variant MELA-AU 16 75139096 75139096 single base substitution T A exon_variant MELA-AU 16 75139096 75139096 single base substitution T A intron_variant MELA-AU 16 75139096 75139096 single base substitution T A upstream_gene_variant MELA-AU 16 75139843 75139843 single base substitution C T downstream_gene_variant MELA-AU 16 75139843 75139843 single base substitution C T exon_variant MELA-AU 16 75139843 75139843 single base substitution C T intron_variant MELA-AU 16 75140295 75140295 single base substitution C T downstream_gene_variant MELA-AU 16 75140295 75140295 single base substitution C T exon_variant MELA-AU 16 75140295 75140295 single base substitution C T intron_variant MELA-AU 16 75140358 75140358 single base substitution C T downstream_gene_variant MELA-AU 16 75140358 75140358 single base substitution C T exon_variant MELA-AU 16 75140358 75140358 single base substitution C T intron_variant MELA-AU 16 75141002 75141002 single base substitution A G downstream_gene_variant MELA-AU 16 75141002 75141002 single base substitution A G exon_variant MELA-AU 16 75141002 75141002 single base substitution A G intron_variant MELA-AU 16 75142078 75142078 single base substitution A G 3_prime_UTR_variant MELA-AU 16 75142078 75142078 single base substitution A G downstream_gene_variant MELA-AU 16 75142078 75142078 single base substitution A G exon_variant MELA-AU 16 75142240 75142240 single base substitution C T 3_prime_UTR_variant MELA-AU 16 75142240 75142240 single base substitution C T downstream_gene_variant MELA-AU 16 75142240 75142240 single base substitution C T exon_variant MELA-AU 16 75142680 75142680 single base substitution C T 3_prime_UTR_variant MELA-AU 16 75142680 75142680 single base substitution C T downstream_gene_variant MELA-AU 16 75142680 75142680 single base substitution C T exon_variant MELA-AU 16 75143169 75143169 single base substitution G A 3_prime_UTR_variant MELA-AU 16 75143169 75143169 single base substitution G A downstream_gene_variant MELA-AU 16 75143169 75143169 single base substitution G A exon_variant MELA-AU 16 75144428 75144428 single base substitution A G 3_prime_UTR_variant MELA-AU 16 75144428 75144428 single base substitution A G downstream_gene_variant MELA-AU 16 75144428 75144428 single base substitution A G exon_variant MELA-AU 16 75145311 75145311 single base substitution C T downstream_gene_variant MELA-AU 16 75146170 75146170 single base substitution C T downstream_gene_variant MELA-AU 16 75146434 75146434 single base substitution G A downstream_gene_variant MELA-AU 16 75146675 75146675 single base substitution G A downstream_gene_variant MELA-AU 16 75146706 75146706 single base substitution C T downstream_gene_variant MELA-AU 16 75146708 75146708 single base substitution C A downstream_gene_variant MELA-AU 16 75147029 75147029 single base substitution C T downstream_gene_variant MELA-AU 16 75147142 75147142 single base substitution C T downstream_gene_variant MELA-AU 16 75147487 75147487 single base substitution C T downstream_gene_variant MELA-AU 16 75148631 75148631 single base substitution C T downstream_gene_variant MELA-AU 16 75148644 75148644 single base substitution G A downstream_gene_variant MELA-AU 16 75148701 75148701 single base substitution C T downstream_gene_variant MELA-AU 16 75148971 75148971 single base substitution C T downstream_gene_variant MELA-AU 16 75149428 75149428 single base substitution C T downstream_gene_variant MELA-AU 16 75149544 75149544 single base substitution C T downstream_gene_variant MELA-AU 16 75149715 75149715 single base substitution A C downstream_gene_variant ORCA-IN 16 75075224 75075224 single base substitution T A intron_variant ORCA-IN 16 75075344 75075344 single base substitution C A intron_variant ORCA-IN 16 75101692 75101692 single base substitution A G intron_variant ORCA-IN 16 75111086 75111086 single base substitution C A intron_variant ORCA-IN 16 75112385 75112385 single base substitution T C intron_variant ORCA-IN 16 75147961 75147961 single base substitution C A downstream_gene_variant ORCA-IN 16 75148815 75148815 single base substitution G A downstream_gene_variant OV-AU 16 75028353 75028353 single base substitution T C upstream_gene_variant OV-AU 16 75030948 75030948 single base substitution G C upstream_gene_variant OV-AU 16 75036516 75036516 single base substitution G A intron_variant OV-AU 16 75039134 75039134 single base substitution C G intron_variant OV-AU 16 75044787 75044787 single base substitution T A intron_variant OV-AU 16 75046662 75046662 single base substitution C A intron_variant OV-AU 16 75076345 75076345 single base substitution T C intron_variant OV-AU 16 75080216 75080216 single base substitution C G intron_variant OV-AU 16 75081730 75081730 single base substitution G A intron_variant OV-AU 16 75095391 75095391 single base substitution T C intron_variant OV-AU 16 75095468 75095468 single base substitution T C intron_variant OV-AU 16 75100789 75100789 single base substitution C A intron_variant OV-AU 16 75108370 75108370 single base substitution A G intron_variant OV-AU 16 75113102 75113102 single base substitution G C intron_variant OV-AU 16 75124714 75124714 single base substitution G C intron_variant OV-AU 16 75124714 75124714 single base substitution G C upstream_gene_variant OV-AU 16 75141076 75141076 single base substitution G T downstream_gene_variant OV-AU 16 75141076 75141076 single base substitution G T exon_variant OV-AU 16 75141076 75141076 single base substitution G T intron_variant PACA-AU 16 75028149 75028149 single base substitution T A upstream_gene_variant PACA-AU 16 75032885 75032885 single base substitution A G upstream_gene_variant PACA-AU 16 75035173 75035173 single base substitution C T intron_variant PACA-AU 16 75035173 75035173 single base substitution C T upstream_gene_variant PACA-AU 16 75036484 75036484 single base substitution C G intron_variant PACA-AU 16 75037584 75037584 single base substitution C T intron_variant PACA-AU 16 75048986 75048986 single base substitution C G intron_variant PACA-AU 16 75050073 75050073 single base substitution G A intron_variant PACA-AU 16 75050357 75050357 single base substitution T C intron_variant PACA-AU 16 75051202 75051202 single base substitution A G intron_variant PACA-AU 16 75054642 75054642 single base substitution G A intron_variant PACA-AU 16 75059829 75059829 single base substitution G A intron_variant PACA-AU 16 75061514 75061514 single base substitution T G intron_variant PACA-AU 16 75065572 75065572 insertion of <=200bp - T intron_variant PACA-AU 16 75067210 75067210 single base substitution T A intron_variant PACA-AU 16 75068322 75068322 single base substitution G C intron_variant PACA-AU 16 75068974 75068974 single base substitution C T intron_variant PACA-AU 16 75078150 75078150 single base substitution C T intron_variant PACA-AU 16 75078457 75078457 single base substitution T G intron_variant PACA-AU 16 75081064 75081064 single base substitution C G intron_variant PACA-AU 16 75081931 75081939 deletion of <=200bp CCTCAACCT - intron_variant PACA-AU 16 75082462 75082462 single base substitution G T intron_variant PACA-AU 16 75086420 75086420 single base substitution G A intron_variant PACA-AU 16 75089398 75089398 single base substitution G A intron_variant PACA-AU 16 75097107 75097107 single base substitution G A intron_variant PACA-AU 16 75102279 75102299 deletion of <=200bp GTTAACCCTGGCCTGGCCAGG - intron_variant PACA-AU 16 75105318 75105318 single base substitution C T intron_variant PACA-AU 16 75107627 75107627 single base substitution C T intron_variant PACA-AU 16 75108674 75108674 deletion of <=200bp G - intron_variant PACA-AU 16 75109247 75109247 single base substitution T G intron_variant PACA-AU 16 75129740 75129740 single base substitution C T intron_variant PACA-AU 16 75140159 75140159 single base substitution C T downstream_gene_variant PACA-AU 16 75140159 75140159 single base substitution C T exon_variant PACA-AU 16 75140159 75140159 single base substitution C T intron_variant PACA-AU 16 75148007 75148007 single base substitution A G downstream_gene_variant PACA-CA 16 75031452 75031452 single base substitution G A upstream_gene_variant PACA-CA 16 75032234 75032234 single base substitution C A upstream_gene_variant PACA-CA 16 75032974 75032974 single base substitution G T 5_prime_UTR_variant PACA-CA 16 75032974 75032974 single base substitution G T upstream_gene_variant PACA-CA 16 75035208 75035208 single base substitution T C intron_variant PACA-CA 16 75035208 75035208 single base substitution T C upstream_gene_variant PACA-CA 16 75036042 75036042 single base substitution G T intron_variant PACA-CA 16 75036042 75036042 single base substitution G T upstream_gene_variant PACA-CA 16 75037034 75037034 insertion of <=200bp - T intron_variant PACA-CA 16 75039346 75039348 deletion of <=200bp TTC - intron_variant PACA-CA 16 75039685 75039685 insertion of <=200bp - TC intron_variant PACA-CA 16 75040375 75040375 single base substitution C A intron_variant PACA-CA 16 75046296 75046296 single base substitution T A intron_variant PACA-CA 16 75049490 75049490 single base substitution A G intron_variant PACA-CA 16 75053850 75053850 single base substitution C T intron_variant PACA-CA 16 75054427 75054431 deletion of <=200bp TCTTT - intron_variant PACA-CA 16 75057757 75057757 single base substitution T C intron_variant PACA-CA 16 75058264 75058264 single base substitution T A intron_variant PACA-CA 16 75060292 75060292 single base substitution A G intron_variant PACA-CA 16 75062438 75062438 single base substitution C G intron_variant PACA-CA 16 75063974 75063974 single base substitution A C intron_variant PACA-CA 16 75075812 75075812 single base substitution T G intron_variant PACA-CA 16 75076550 75076550 single base substitution T C intron_variant PACA-CA 16 75077955 75077955 single base substitution C T intron_variant PACA-CA 16 75083238 75083238 single base substitution A T intron_variant PACA-CA 16 75084435 75084435 single base substitution A G intron_variant PACA-CA 16 75087387 75087387 single base substitution T C intron_variant PACA-CA 16 75089195 75089195 single base substitution G A intron_variant PACA-CA 16 75092159 75092159 single base substitution C T intron_variant PACA-CA 16 75094245 75094245 single base substitution G A intron_variant PACA-CA 16 75094938 75094938 single base substitution T C intron_variant PACA-CA 16 75097866 75097866 single base substitution G C intron_variant PACA-CA 16 75100100 75100100 single base substitution C G intron_variant PACA-CA 16 75100293 75100293 single base substitution C A intron_variant PACA-CA 16 75108509 75108509 single base substitution C T intron_variant PACA-CA 16 75109909 75109909 single base substitution T C intron_variant PACA-CA 16 75110050 75110050 single base substitution A G intron_variant PACA-CA 16 75111168 75111168 single base substitution C T intron_variant PACA-CA 16 75122850 75122850 single base substitution C T intron_variant PACA-CA 16 75126048 75126048 single base substitution T A intron_variant PACA-CA 16 75126048 75126048 single base substitution T A upstream_gene_variant PACA-CA 16 75129915 75129915 single base substitution G A intron_variant PACA-CA 16 75130772 75130772 single base substitution C A intron_variant PACA-CA 16 75131931 75131931 single base substitution T C intron_variant PACA-CA 16 75135065 75135065 single base substitution C G intron_variant PACA-CA 16 75135065 75135065 single base substitution C G upstream_gene_variant PACA-CA 16 75140398 75140398 single base substitution T C downstream_gene_variant PACA-CA 16 75140398 75140398 single base substitution T C exon_variant PACA-CA 16 75140398 75140398 single base substitution T C intron_variant PACA-CA 16 75140398 75140398 single base substitution T C synonymous_variant F215F 645T>C PACA-CA 16 75140398 75140398 single base substitution T C synonymous_variant F266F 798T>C PACA-CA 16 75141074 75141074 single base substitution C A downstream_gene_variant PACA-CA 16 75141074 75141074 single base substitution C A exon_variant PACA-CA 16 75141074 75141074 single base substitution C A intron_variant PACA-CA 16 75144903 75144903 single base substitution T C downstream_gene_variant PACA-CA 16 75146882 75146882 single base substitution G A downstream_gene_variant PACA-CA 16 75147070 75147070 single base substitution T G downstream_gene_variant PACA-CA 16 75147675 75147675 single base substitution G A downstream_gene_variant PACA-CA 16 75149487 75149487 single base substitution C A downstream_gene_variant PAEN-AU 16 75052363 75052363 single base substitution T G intron_variant PAEN-AU 16 75113149 75113149 single base substitution G C intron_variant PBCA-DE 16 75028812 75028812 insertion of <=200bp - A upstream_gene_variant PBCA-DE 16 75063877 75063877 single base substitution C A intron_variant PBCA-DE 16 75065395 75065395 deletion of <=200bp T - intron_variant PBCA-DE 16 75068670 75068670 single base substitution G T intron_variant PBCA-DE 16 75073818 75073818 single base substitution G T intron_variant PBCA-DE 16 75074709 75074709 deletion of <=200bp T - intron_variant PBCA-DE 16 75098224 75098224 single base substitution A G intron_variant PBCA-DE 16 75099007 75099007 single base substitution A T intron_variant PBCA-DE 16 75103741 75103741 single base substitution T C intron_variant PBCA-DE 16 75115948 75115948 insertion of <=200bp - T intron_variant PBCA-DE 16 75116662 75116662 single base substitution C T intron_variant PBCA-DE 16 75121562 75121562 single base substitution C T intron_variant PBCA-DE 16 75124273 75124273 single base substitution G C intron_variant PBCA-DE 16 75124273 75124273 single base substitution G C upstream_gene_variant PBCA-DE 16 75127109 75127109 single base substitution C A intron_variant PBCA-DE 16 75127109 75127109 single base substitution C A upstream_gene_variant PBCA-DE 16 75135178 75135178 single base substitution G C intron_variant PBCA-DE 16 75135178 75135178 single base substitution G C upstream_gene_variant PBCA-DE 16 75135784 75135784 single base substitution C A intron_variant PBCA-DE 16 75135784 75135784 single base substitution C A upstream_gene_variant PRAD-CA 16 75088215 75088215 single base substitution C G intron_variant PRAD-CA 16 75103624 75103624 single base substitution T A intron_variant PRAD-CA 16 75105011 75105011 single base substitution C T intron_variant PRAD-CA 16 75119717 75119717 single base substitution T A intron_variant PRAD-UK 16 75035128 75035128 single base substitution T C intron_variant PRAD-UK 16 75035128 75035128 single base substitution T C upstream_gene_variant PRAD-UK 16 75035949 75035949 single base substitution C T intron_variant PRAD-UK 16 75035949 75035949 single base substitution C T upstream_gene_variant PRAD-UK 16 75041613 75041613 single base substitution T G intron_variant PRAD-UK 16 75045782 75045782 single base substitution C T intron_variant PRAD-UK 16 75053566 75053566 single base substitution G T intron_variant PRAD-UK 16 75058098 75058098 single base substitution G T intron_variant PRAD-UK 16 75061302 75061302 single base substitution C A intron_variant PRAD-UK 16 75062152 75062152 single base substitution T C intron_variant PRAD-UK 16 75071622 75071622 single base substitution A C intron_variant PRAD-UK 16 75074866 75074866 single base substitution C T intron_variant PRAD-UK 16 75078045 75078045 single base substitution G C intron_variant PRAD-UK 16 75094762 75094762 single base substitution G C intron_variant PRAD-UK 16 75121443 75121443 single base substitution C G intron_variant PRAD-UK 16 75134418 75134418 single base substitution G A intron_variant PRAD-UK 16 75134418 75134418 single base substitution G A upstream_gene_variant PRAD-UK 16 75136105 75136110 deletion of <=200bp TTTGCC - intron_variant PRAD-UK 16 75136105 75136110 deletion of <=200bp TTTGCC - upstream_gene_variant RECA-EU 16 75031115 75031115 single base substitution G C upstream_gene_variant RECA-EU 16 75031116 75031116 single base substitution T A upstream_gene_variant RECA-EU 16 75031877 75031877 single base substitution T C upstream_gene_variant RECA-EU 16 75034794 75034794 single base substitution C T intron_variant RECA-EU 16 75034794 75034794 single base substitution C T upstream_gene_variant RECA-EU 16 75048609 75048609 single base substitution A C intron_variant RECA-EU 16 75058855 75058855 single base substitution T C intron_variant RECA-EU 16 75063191 75063191 single base substitution C G intron_variant RECA-EU 16 75063263 75063263 single base substitution G T intron_variant RECA-EU 16 75063265 75063265 single base substitution C A intron_variant RECA-EU 16 75066498 75066498 single base substitution A C intron_variant RECA-EU 16 75071594 75071594 single base substitution T C intron_variant RECA-EU 16 75077366 75077366 single base substitution G A intron_variant RECA-EU 16 75080828 75080828 single base substitution C T intron_variant RECA-EU 16 75097502 75097502 single base substitution T A intron_variant RECA-EU 16 75100967 75100967 single base substitution G T intron_variant RECA-EU 16 75102446 75102446 single base substitution T G intron_variant RECA-EU 16 75103009 75103009 single base substitution G A intron_variant RECA-EU 16 75117170 75117170 single base substitution T G intron_variant RECA-EU 16 75119885 75119885 single base substitution T A intron_variant RECA-EU 16 75119886 75119886 single base substitution T A intron_variant RECA-EU 16 75142674 75142674 single base substitution C G 3_prime_UTR_variant RECA-EU 16 75142674 75142674 single base substitution C G downstream_gene_variant RECA-EU 16 75142674 75142674 single base substitution C G exon_variant SKCA-BR 16 75028742 75028742 single base substitution T G upstream_gene_variant SKCA-BR 16 75032879 75032879 single base substitution A G upstream_gene_variant SKCA-BR 16 75032885 75032885 single base substitution A G upstream_gene_variant SKCA-BR 16 75033134 75033134 single base substitution A G 5_prime_UTR_variant SKCA-BR 16 75033134 75033134 single base substitution A G upstream_gene_variant SKCA-BR 16 75033786 75033786 single base substitution A C missense_variant T73P 217A>C SKCA-BR 16 75033786 75033786 single base substitution A C upstream_gene_variant SKCA-BR 16 75036422 75036422 single base substitution T G intron_variant SKCA-BR 16 75037582 75037582 single base substitution T C intron_variant SKCA-BR 16 75038966 75038966 single base substitution C T intron_variant SKCA-BR 16 75040957 75040958 deletion of <=200bp CT - intron_variant SKCA-BR 16 75041128 75041128 single base substitution A T intron_variant SKCA-BR 16 75041444 75041444 single base substitution C T intron_variant SKCA-BR 16 75044121 75044121 single base substitution T C intron_variant SKCA-BR 16 75044609 75044609 single base substitution G T intron_variant SKCA-BR 16 75044615 75044615 insertion of <=200bp - TTTTG intron_variant SKCA-BR 16 75047926 75047926 single base substitution A C intron_variant SKCA-BR 16 75048153 75048153 single base substitution A T intron_variant SKCA-BR 16 75048197 75048197 single base substitution G T intron_variant SKCA-BR 16 75050474 75050474 single base substitution C T intron_variant SKCA-BR 16 75055363 75055363 single base substitution C T intron_variant SKCA-BR 16 75058294 75058294 single base substitution A T intron_variant SKCA-BR 16 75066002 75066003 deletion of <=200bp GT - intron_variant SKCA-BR 16 75066209 75066211 deletion of <=200bp GTT - intron_variant SKCA-BR 16 75067335 75067337 deletion of <=200bp GTT - intron_variant SKCA-BR 16 75068205 75068205 single base substitution T C intron_variant SKCA-BR 16 75069611 75069611 single base substitution C T intron_variant SKCA-BR 16 75072613 75072613 single base substitution C T intron_variant SKCA-BR 16 75075319 75075319 single base substitution C T intron_variant SKCA-BR 16 75084450 75084450 single base substitution C T intron_variant SKCA-BR 16 75084795 75084797 deletion of <=200bp AAC - intron_variant SKCA-BR 16 75084948 75084948 single base substitution C A intron_variant SKCA-BR 16 75085230 75085230 single base substitution C T intron_variant SKCA-BR 16 75087487 75087488 deletion of <=200bp CA - intron_variant SKCA-BR 16 75089271 75089271 single base substitution C T intron_variant SKCA-BR 16 75098459 75098459 insertion of <=200bp - GA intron_variant SKCA-BR 16 75099655 75099655 single base substitution C T intron_variant SKCA-BR 16 75101057 75101057 single base substitution C T intron_variant SKCA-BR 16 75101561 75101561 single base substitution G A intron_variant SKCA-BR 16 75102086 75102088 deletion of <=200bp TAA - intron_variant SKCA-BR 16 75103177 75103177 single base substitution T G intron_variant SKCA-BR 16 75107368 75107368 single base substitution A C intron_variant SKCA-BR 16 75116753 75116753 single base substitution G A intron_variant SKCA-BR 16 75120664 75120664 single base substitution C T intron_variant SKCA-BR 16 75121176 75121176 single base substitution C T intron_variant SKCA-BR 16 75123074 75123075 deletion of <=200bp CA - intron_variant SKCA-BR 16 75123842 75123842 single base substitution C T intron_variant SKCA-BR 16 75124261 75124264 deletion of <=200bp TTTG - intron_variant SKCA-BR 16 75124261 75124264 deletion of <=200bp TTTG - upstream_gene_variant SKCA-BR 16 75124273 75124273 single base substitution G C intron_variant SKCA-BR 16 75124273 75124273 single base substitution G C upstream_gene_variant SKCA-BR 16 75124275 75124278 deletion of <=200bp TCTG - intron_variant SKCA-BR 16 75124275 75124278 deletion of <=200bp TCTG - upstream_gene_variant SKCA-BR 16 75124546 75124546 single base substitution G A intron_variant SKCA-BR 16 75124546 75124546 single base substitution G A upstream_gene_variant SKCA-BR 16 75125226 75125226 single base substitution C T intron_variant SKCA-BR 16 75125226 75125226 single base substitution C T upstream_gene_variant SKCA-BR 16 75127546 75127546 single base substitution A C exon_variant SKCA-BR 16 75127546 75127546 single base substitution A C missense_variant K11N 33A>C SKCA-BR 16 75127546 75127546 single base substitution A C missense_variant K167N 501A>C SKCA-BR 16 75127546 75127546 single base substitution A C upstream_gene_variant SKCA-BR 16 75138659 75138659 single base substitution A T exon_variant SKCA-BR 16 75138659 75138659 single base substitution A T intron_variant SKCA-BR 16 75138659 75138659 single base substitution A T upstream_gene_variant SKCA-BR 16 75138660 75138660 single base substitution C T exon_variant SKCA-BR 16 75138660 75138660 single base substitution C T intron_variant SKCA-BR 16 75138660 75138660 single base substitution C T upstream_gene_variant SKCA-BR 16 75142341 75142341 insertion of <=200bp - AT 3_prime_UTR_variant SKCA-BR 16 75142341 75142341 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 16 75142341 75142341 insertion of <=200bp - AT exon_variant SKCA-BR 16 75143319 75143319 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 75143319 75143319 single base substitution C T downstream_gene_variant SKCA-BR 16 75143319 75143319 single base substitution C T exon_variant SKCA-BR 16 75148755 75148755 single base substitution G A downstream_gene_variant SKCM-US 16 75033985 75033985 single base substitution C T missense_variant S139L 416C>T SKCM-US 16 75033985 75033985 single base substitution C T upstream_gene_variant SKCM-US 16 75127483 75127483 single base substitution C T 5_prime_UTR_variant SKCM-US 16 75127483 75127483 single base substitution C T exon_variant SKCM-US 16 75127483 75127483 single base substitution C T synonymous_variant P146P 438C>T SKCM-US 16 75127483 75127483 single base substitution C T upstream_gene_variant SKCM-US 16 75140409 75140409 single base substitution G T downstream_gene_variant SKCM-US 16 75140409 75140409 single base substitution G T exon_variant SKCM-US 16 75140409 75140409 single base substitution G T intron_variant SKCM-US 16 75140409 75140409 single base substitution G T missense_variant R219I 656G>T SKCM-US 16 75140409 75140409 single base substitution G T missense_variant R270I 809G>T SKCM-US 16 75146541 75146541 single base substitution C T downstream_gene_variant SKCM-US 16 75147556 75147556 single base substitution C T downstream_gene_variant SKCM-US 16 75147661 75147661 single base substitution C T downstream_gene_variant SKCM-US 16 75148085 75148085 single base substitution G A downstream_gene_variant STAD-US 16 75033951 75033951 single base substitution C G missense_variant L128V 382C>G STAD-US 16 75033951 75033951 single base substitution C G upstream_gene_variant STAD-US 16 75140387 75140387 single base substitution G A downstream_gene_variant STAD-US 16 75140387 75140387 single base substitution G A exon_variant STAD-US 16 75140387 75140387 single base substitution G A intron_variant STAD-US 16 75140387 75140387 single base substitution G A missense_variant D212N 634G>A STAD-US 16 75140387 75140387 single base substitution G A missense_variant D263N 787G>A STAD-US 16 75146325 75146325 single base substitution C T downstream_gene_variant STAD-US 16 75146546 75146546 single base substitution C T downstream_gene_variant STAD-US 16 75147447 75147447 single base substitution G A downstream_gene_variant STAD-US 16 75147704 75147704 single base substitution C T downstream_gene_variant STAD-US 16 75148041 75148041 single base substitution G A downstream_gene_variant STAD-US 16 75148724 75148724 single base substitution C T downstream_gene_variant STAD-US 16 75149234 75149234 single base substitution G A downstream_gene_variant STAD-US 16 75149237 75149237 single base substitution C T downstream_gene_variant THCA-SA 16 75146774 75146774 single base substitution C T downstream_gene_variant UCEC-US 16 75127537 75127537 single base substitution T C exon_variant UCEC-US 16 75127537 75127537 single base substitution T C synonymous_variant C164C 492T>C UCEC-US 16 75127537 75127537 single base substitution T C synonymous_variant C8C 24T>C UCEC-US 16 75127537 75127537 single base substitution T C upstream_gene_variant UCEC-US 16 75138748 75138748 single base substitution C T exon_variant UCEC-US 16 75138748 75138748 single base substitution C T missense_variant T196M 587C>T UCEC-US 16 75138748 75138748 single base substitution C T missense_variant T22M 65C>T UCEC-US 16 75138748 75138748 single base substitution C T missense_variant T247M 740C>T UCEC-US 16 75138748 75138748 single base substitution C T missense_variant T40M 119C>T UCEC-US 16 75138748 75138748 single base substitution C T upstream_gene_variant UCEC-US 16 75146775 75146775 single base substitution G A downstream_gene_variant UCEC-US 16 75147502 75147502 single base substitution C T downstream_gene_variant UCEC-US 16 75148067 75148067 single base substitution C T downstream_gene_variant UCEC-US 16 75148129 75148129 single base substitution G A downstream_gene_variant UCEC-US 16 75148517 75148517 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T191 COSM4745311 c.665C>T p.P222L Substitution - Missense 16:75106520-75106520 + Au4 COSM5605493 c.595A>T p.R199W Substitution - Missense 16:75104858-75104858 + T3225 COSM4745309 c.364G>A p.A122T Substitution - Missense 16:75000035-75000035 + TCGA-CG-4443-01 COSM4062795 c.382C>G p.L128V Substitution - Missense 16:75000053-75000053 + TCGA-12-0707 COSM2154475 c.493T>C p.L165L Substitution - coding silent 16:75093640-75093640 + PTC-54C COSM4129354 c.110A>T p.Y37F Substitution - Missense 16:74999781-74999781 + 46M COSM5589470 c.353T>G p.L118R Substitution - Missense 16:75000024-75000024 + PCSI_0090_Pa_X COSM3377976 c.645T>C p.F215F Substitution - coding silent 16:75106500-75106500 + TCGA-A2-A0T0-01 COSM435775 c.571C>G p.L191V Substitution - Missense 16:75104834-75104834 + BD49T COSM5498226 c.95C>G p.P32R Substitution - Missense 16:74999766-74999766 + TCGA-12-0707 COSM2154350 c.491G>C p.C164S Substitution - Missense 16:75093638-75093638 + CSCC-60-T COSM4504703 c.672C>T p.H224H Substitution - coding silent 16:75106527-75106527 + ESCC_92 COSM5637065 c.508C>T p.L170F Substitution - Missense 16:75093655-75093655 + YUMUL COSM5385384 c.359C>T p.S120F Substitution - Missense 16:75000030-75000030 + TCGA-FS-A1ZR-06 COSM3512211 c.656G>T p.R219I Substitution - Missense 16:75106511-75106511 + TCGA-EE-A29E-06 COSM3512209 c.416C>T p.S139L Substitution - Missense 16:75000087-75000087 + TCGA-EK-A2PG-01 COSM4819577 c.368C>T p.S123L Substitution - Missense 16:75000039-75000039 + TCGA-B6-A401-01 COSM4391293 c.417G>A p.S139S Substitution - coding silent 16:75000088-75000088 + TCGA-AO-A128-01 COSM3818551 c.377A>G p.D126G Substitution - Missense 16:75000048-75000048 + PTC-10C COSM4129354 c.110A>T p.Y37F Substitution - Missense 16:74999781-74999781 + TCGA-ER-A19W-06 COSM4398654 c.438C>T p.P146P Substitution - coding silent 16:75093585-75093585 + CHC437T COSM4958050 c.437C>A p.P146H Substitution - Missense 16:75093584-75093584 + Pat_63_A COSM5851479 c.400C>T p.P134S Substitution - Missense 16:75000071-75000071 + MO_1074 COSM5299643 c.465C>G p.D155E Substitution - Missense 16:75093612-75093612 + CHC437T COSM4958050 c.437C>A p.P146H Substitution - Missense 16:75093584-75093584 + TCGA-D1-A103-01 COSM973680 c.492T>C p.C164C Substitution - coding silent 16:75093639-75093639 + TCGA-AP-A059-01 COSM973681 c.587C>T p.T196M Substitution - Missense 16:75104850-75104850 + TCGA-12-0707 COSM2154349 c.490T>A p.C164S Substitution - Missense 16:75093637-75093637 + T3024 COSM4745307 c.193delG p.V67fs*96 Deletion - Frameshift 16:74999864-74999864 + TCGA-BR-4361-01 COSM4062797 c.634G>A p.D212N Substitution - Missense 16:75106489-75106489 + TCGA-12-0707 COSM2154586 c.496A>G p.S166G Substitution - Missense 16:75093643-75093643 + TCGA-D5-6928-01 COSM1379771 c.506G>A p.R169H Substitution - Missense 16:75093653-75093653 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.427236;Hs.427242;Hs.427284 16q23.1 612060

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.425-42674A>C 16 75084796 CLL C A IntronicSNV . c.424+1380C>A 16 75035373 CLL - CCCCCTTCCCCTTCCCCTTCCCCTTCCC IntronicInsertion . c.521-4400_521-4399insCCTTCCCCTTCCCCTTCCCCTTCCCCCC 16 75134279 CLL C G Missense p.L128V c.382C>G 16 75033951 STAD C G Missense p.L191V c.571C>G 16 75138732 BRCA G A Synonymous p.R84R c.252G>A 16 75033821 HNSC G - Frameshift p.E223Nfs*40 c.667delG 16 75140419 GBM G T Missense p.R219I c.656G>T 16 75140409 CM