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 6 18399809 18399809 + Frame_Shift_Del DEL A A - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr6:18399809delA c.44delA c.(43-45)gaafs p.E15fs BRCA 6 18457500 18457500 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:18457500A>C c.446A>C c.(445-447)cAc>cCc p.H149P COAD 6 18457497 18457497 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:18457497G>A c.443G>A c.(442-444)tGc>tAc p.C148Y COADREAD 6 18457497 18457497 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:18457497G>A c.443G>A c.(442-444)tGc>tAc p.C148Y DLBC 6 18457574 18457574 + Silent SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr6:18457574C>T c.520C>T c.(520-522)Ctg>Ttg p.L174L GBMLGG 6 18427916 18427916 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:18427916G>A c.270G>A c.(268-270)gaG>gaA p.E90E GBMLGG 6 18459946 18459946 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:18459946G>T c.645G>T c.(643-645)aaG>aaT p.K215N HNSC 6 18459890 18459890 + Missense_Mutation SNP C C T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr6:18459890C>T c.589C>T c.(589-591)Cgg>Tgg p.R197W LGG 6 18427916 18427916 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:18427916G>A c.270G>A c.(268-270)gaG>gaA p.E90E LGG 6 18459946 18459946 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:18459946G>T c.645G>T c.(643-645)aaG>aaT p.K215N LIHC 6 18465185 18465185 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr6:18465185A>G c.799A>G c.(799-801)Atc>Gtc p.I267V LUAD 6 18399839 18399839 + Frame_Shift_Del DEL C C - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr6:18399839delC c.74delC c.(73-75)gccfs p.A25fs LUAD 6 18399923 18399923 + Missense_Mutation SNP G G C TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr6:18399923G>C c.158G>C c.(157-159)tGc>tCc p.C53S LUAD 6 18457500 18457500 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 g.chr6:18457500A>G c.446A>G c.(445-447)cAc>cGc p.H149R LUAD 6 18457533 18457533 + Missense_Mutation SNP G G T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr6:18457533G>T c.479G>T c.(478-480)tGg>tTg p.W160L LUAD 6 18457534 18457534 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr6:18457534G>T c.480G>T c.(478-480)tgG>tgT p.W160C LUAD 6 18463605 18463605 + Silent SNP A A T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr6:18463605A>T c.765A>T c.(763-765)cgA>cgT p.R255R PAAD 6 18439941 18439941 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:18439941G>A c.297G>A c.(295-297)caG>caA p.Q99Q SARC 6 18399888 18399888 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 g.chr6:18399888G>T c.123G>T c.(121-123)aaG>aaT p.K41N SKCM 6 18463533 18463533 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr6:18463533C>T c.693C>T c.(691-693)ttC>ttT p.F231F SKCM 6 18465228 18465228 + Missense_Mutation SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr6:18465228C>A c.842C>A c.(841-843)cCa>cAa p.P281Q SKCM 6 18465262 18465262 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:18465262G>A c.876G>A c.(874-876)cgG>cgA p.R292R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 18465225 18465225 single base substitution C T missense_variant S191F 572C>T BLCA-CN 6 18465225 18465225 single base substitution C T missense_variant S280F 839C>T BOCA-FR 6 18371962 18371962 single base substitution G T intron_variant BOCA-FR 6 18381913 18381913 single base substitution T G intron_variant BRCA-EU 6 18364188 18364188 single base substitution A C upstream_gene_variant BRCA-EU 6 18364673 18364673 single base substitution G C upstream_gene_variant BRCA-EU 6 18364816 18364816 single base substitution T A upstream_gene_variant BRCA-EU 6 18366022 18366022 single base substitution G T upstream_gene_variant BRCA-EU 6 18367419 18367419 single base substitution C T upstream_gene_variant BRCA-EU 6 18368546 18368546 single base substitution C G upstream_gene_variant BRCA-EU 6 18369220 18369220 single base substitution G A intron_variant BRCA-EU 6 18369489 18369489 single base substitution C A intron_variant BRCA-EU 6 18369818 18369818 single base substitution T C intron_variant BRCA-EU 6 18370945 18370945 single base substitution A T intron_variant BRCA-EU 6 18374264 18374264 single base substitution C G intron_variant BRCA-EU 6 18375492 18375492 single base substitution G A intron_variant BRCA-EU 6 18375925 18375925 single base substitution A T intron_variant BRCA-EU 6 18376574 18376574 single base substitution G A intron_variant BRCA-EU 6 18376579 18376579 single base substitution C A intron_variant BRCA-EU 6 18378511 18378511 single base substitution T C intron_variant BRCA-EU 6 18379133 18379133 single base substitution G A intron_variant BRCA-EU 6 18379915 18379915 single base substitution G C intron_variant BRCA-EU 6 18380551 18380551 single base substitution C G intron_variant BRCA-EU 6 18380898 18380898 single base substitution T C intron_variant BRCA-EU 6 18380969 18380969 deletion of <=200bp T - intron_variant BRCA-EU 6 18383384 18383384 single base substitution C G intron_variant BRCA-EU 6 18383384 18383384 single base substitution C G upstream_gene_variant BRCA-EU 6 18384051 18384051 single base substitution A T intron_variant BRCA-EU 6 18384051 18384051 single base substitution A T upstream_gene_variant BRCA-EU 6 18385243 18385243 single base substitution C T intron_variant BRCA-EU 6 18385243 18385243 single base substitution C T upstream_gene_variant BRCA-EU 6 18385659 18385659 single base substitution C G intron_variant BRCA-EU 6 18385659 18385659 single base substitution C G upstream_gene_variant BRCA-EU 6 18386775 18386776 deletion of <=200bp AC - intron_variant BRCA-EU 6 18386775 18386776 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 6 18387181 18387181 single base substitution C G intron_variant BRCA-EU 6 18387181 18387181 single base substitution C G upstream_gene_variant BRCA-EU 6 18387195 18387195 single base substitution G A intron_variant BRCA-EU 6 18387195 18387195 single base substitution G A upstream_gene_variant BRCA-EU 6 18387742 18387742 single base substitution G A 5_prime_UTR_variant BRCA-EU 6 18387742 18387742 single base substitution G A intron_variant BRCA-EU 6 18387742 18387742 single base substitution G A upstream_gene_variant BRCA-EU 6 18389088 18389088 single base substitution G A intron_variant BRCA-EU 6 18390631 18390631 deletion of <=200bp A - intron_variant BRCA-EU 6 18390819 18390819 single base substitution G A intron_variant BRCA-EU 6 18392099 18392099 insertion of <=200bp - A intron_variant BRCA-EU 6 18393675 18393675 single base substitution T A intron_variant BRCA-EU 6 18394194 18394194 single base substitution T A intron_variant BRCA-EU 6 18394754 18394755 deletion of <=200bp GG - intron_variant BRCA-EU 6 18394846 18394846 single base substitution A G intron_variant BRCA-EU 6 18395022 18395022 single base substitution C A intron_variant BRCA-EU 6 18396451 18396451 single base substitution T C intron_variant BRCA-EU 6 18396519 18396519 single base substitution T C intron_variant BRCA-EU 6 18397145 18397145 single base substitution G C intron_variant BRCA-EU 6 18398007 18398007 single base substitution C A intron_variant BRCA-EU 6 18398596 18398596 single base substitution C A intron_variant BRCA-EU 6 18399087 18399087 single base substitution T G intron_variant BRCA-EU 6 18399594 18399594 single base substitution C T intron_variant BRCA-EU 6 18399661 18399661 single base substitution C A intron_variant BRCA-EU 6 18403341 18403341 single base substitution C T downstream_gene_variant BRCA-EU 6 18403341 18403341 single base substitution C T intron_variant BRCA-EU 6 18403960 18403960 single base substitution G C downstream_gene_variant BRCA-EU 6 18403960 18403960 single base substitution G C intron_variant BRCA-EU 6 18405207 18405207 single base substitution C T downstream_gene_variant BRCA-EU 6 18405207 18405207 single base substitution C T intron_variant BRCA-EU 6 18405707 18405707 single base substitution C A downstream_gene_variant BRCA-EU 6 18405707 18405707 single base substitution C A intron_variant BRCA-EU 6 18405916 18405916 single base substitution C T downstream_gene_variant BRCA-EU 6 18405916 18405916 single base substitution C T intron_variant BRCA-EU 6 18407591 18407591 single base substitution C T intron_variant BRCA-EU 6 18407990 18407990 deletion of <=200bp T - intron_variant BRCA-EU 6 18410849 18410849 single base substitution T A intron_variant BRCA-EU 6 18410973 18410973 single base substitution G A intron_variant BRCA-EU 6 18411501 18411501 single base substitution A C intron_variant BRCA-EU 6 18413132 18413132 single base substitution A G intron_variant BRCA-EU 6 18415061 18415061 single base substitution T C intron_variant BRCA-EU 6 18415722 18415722 single base substitution G C intron_variant BRCA-EU 6 18416399 18416399 single base substitution G A intron_variant BRCA-EU 6 18416532 18416532 single base substitution C G intron_variant BRCA-EU 6 18417833 18417833 single base substitution C G intron_variant BRCA-EU 6 18418044 18418044 single base substitution G A intron_variant BRCA-EU 6 18418584 18418584 single base substitution A T intron_variant BRCA-EU 6 18419579 18419579 single base substitution G A intron_variant BRCA-EU 6 18420683 18420683 single base substitution C G intron_variant BRCA-EU 6 18422472 18422472 single base substitution A T intron_variant BRCA-EU 6 18422736 18422736 single base substitution T G intron_variant BRCA-EU 6 18422845 18422845 single base substitution G A intron_variant BRCA-EU 6 18423693 18423693 single base substitution T C intron_variant BRCA-EU 6 18424207 18424207 single base substitution T C intron_variant BRCA-EU 6 18425182 18425182 single base substitution C T intron_variant BRCA-EU 6 18425764 18425764 single base substitution C T intron_variant BRCA-EU 6 18425886 18425886 single base substitution C T intron_variant BRCA-EU 6 18426562 18426562 deletion of <=200bp T - intron_variant BRCA-EU 6 18426921 18426921 single base substitution C G intron_variant BRCA-EU 6 18428807 18428807 single base substitution A G intron_variant BRCA-EU 6 18429007 18429007 single base substitution C T intron_variant BRCA-EU 6 18429830 18429830 single base substitution C A intron_variant BRCA-EU 6 18430324 18430324 single base substitution C T intron_variant BRCA-EU 6 18430824 18430824 single base substitution C G intron_variant BRCA-EU 6 18432070 18432070 single base substitution T C intron_variant BRCA-EU 6 18432160 18432164 deletion of <=200bp GTGAC - intron_variant BRCA-EU 6 18432878 18432878 single base substitution C G intron_variant BRCA-EU 6 18434148 18434148 single base substitution C T intron_variant BRCA-EU 6 18434465 18434465 single base substitution C T intron_variant BRCA-EU 6 18435780 18435783 deletion of <=200bp AATT - intron_variant BRCA-EU 6 18435818 18435818 single base substitution G A intron_variant BRCA-EU 6 18436779 18436779 single base substitution C G intron_variant BRCA-EU 6 18437369 18437369 single base substitution A G intron_variant BRCA-EU 6 18437828 18437828 single base substitution T C intron_variant BRCA-EU 6 18438149 18438149 single base substitution G A intron_variant BRCA-EU 6 18438409 18438409 single base substitution C G intron_variant BRCA-EU 6 18438767 18438767 single base substitution A G intron_variant BRCA-EU 6 18439989 18439989 deletion of <=200bp T - intron_variant BRCA-EU 6 18441041 18441041 deletion of <=200bp A - intron_variant BRCA-EU 6 18442343 18442343 single base substitution A C intron_variant BRCA-EU 6 18443277 18443277 single base substitution G A intron_variant BRCA-EU 6 18443475 18443475 single base substitution C T intron_variant BRCA-EU 6 18445787 18445787 single base substitution G T intron_variant BRCA-EU 6 18447761 18447761 single base substitution G C intron_variant BRCA-EU 6 18452175 18452175 single base substitution C T intron_variant BRCA-EU 6 18453519 18453519 single base substitution A C intron_variant BRCA-EU 6 18454103 18454103 single base substitution C T intron_variant BRCA-EU 6 18454856 18454856 single base substitution C T intron_variant BRCA-EU 6 18455583 18455583 single base substitution T A intron_variant BRCA-EU 6 18456216 18456216 single base substitution C T intron_variant BRCA-EU 6 18456961 18456961 single base substitution T G intron_variant BRCA-EU 6 18457665 18457665 single base substitution G C intron_variant BRCA-EU 6 18457728 18457728 single base substitution C T intron_variant BRCA-EU 6 18458218 18458218 single base substitution G A intron_variant BRCA-EU 6 18459198 18459198 single base substitution G A intron_variant BRCA-EU 6 18460858 18460859 deletion of <=200bp CT - intron_variant BRCA-EU 6 18462135 18462135 single base substitution T A intron_variant BRCA-EU 6 18462250 18462250 single base substitution C A intron_variant BRCA-EU 6 18462587 18462587 single base substitution A T intron_variant BRCA-EU 6 18463041 18463041 single base substitution C T intron_variant BRCA-EU 6 18463463 18463463 single base substitution G A intron_variant BRCA-EU 6 18465801 18465801 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 18465801 18465801 single base substitution C T downstream_gene_variant BRCA-EU 6 18468700 18468700 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 18468700 18468700 single base substitution C G downstream_gene_variant BRCA-EU 6 18469296 18469296 single base substitution T G downstream_gene_variant BRCA-EU 6 18470724 18470724 single base substitution C G downstream_gene_variant BRCA-EU 6 18470919 18470919 single base substitution G T downstream_gene_variant BRCA-EU 6 18471493 18471493 single base substitution G T downstream_gene_variant BRCA-EU 6 18471950 18471950 single base substitution G A downstream_gene_variant BRCA-EU 6 18472146 18472146 single base substitution G C downstream_gene_variant BRCA-EU 6 18472732 18472732 single base substitution A T downstream_gene_variant BRCA-EU 6 18473627 18473627 single base substitution G A downstream_gene_variant BRCA-FR 6 18374264 18374264 single base substitution C G intron_variant BRCA-FR 6 18376574 18376574 single base substitution G A intron_variant BRCA-FR 6 18379915 18379915 single base substitution G C intron_variant BRCA-FR 6 18390812 18390812 single base substitution A T intron_variant BRCA-FR 6 18395022 18395022 single base substitution C A intron_variant BRCA-FR 6 18397145 18397145 single base substitution G C intron_variant BRCA-FR 6 18410849 18410849 single base substitution T A intron_variant BRCA-FR 6 18415061 18415061 single base substitution T C intron_variant BRCA-FR 6 18420683 18420683 single base substitution C G intron_variant BRCA-FR 6 18438149 18438149 single base substitution G A intron_variant BRCA-FR 6 18443475 18443475 single base substitution C T intron_variant BRCA-FR 6 18446423 18446423 single base substitution T A intron_variant BRCA-FR 6 18455583 18455583 single base substitution T A intron_variant BRCA-FR 6 18459055 18459055 single base substitution C G intron_variant BRCA-FR 6 18459198 18459198 single base substitution G A intron_variant BRCA-FR 6 18462587 18462587 single base substitution A T intron_variant BRCA-FR 6 18471950 18471950 single base substitution G A downstream_gene_variant BRCA-FR 6 18472732 18472732 single base substitution A T downstream_gene_variant BRCA-FR 6 18473627 18473627 single base substitution G A downstream_gene_variant BRCA-UK 6 18368595 18368595 single base substitution G A upstream_gene_variant BRCA-UK 6 18369489 18369489 single base substitution C A intron_variant BRCA-UK 6 18403960 18403960 single base substitution G C downstream_gene_variant BRCA-UK 6 18403960 18403960 single base substitution G C intron_variant BRCA-UK 6 18431399 18431399 single base substitution G A intron_variant BRCA-UK 6 18470265 18470265 single base substitution G C downstream_gene_variant BRCA-UK 6 18473816 18473816 single base substitution C G downstream_gene_variant BRCA-US 6 18399809 18399809 deletion of <=200bp A - exon_variant BRCA-US 6 18399809 18399809 deletion of <=200bp A - frameshift_variant E15 BRCA-US 6 18399809 18399809 deletion of <=200bp A - intron_variant BRCA-US 6 18457500 18457500 single base substitution A C missense_variant H149P 446A>C BRCA-US 6 18457500 18457500 single base substitution A C missense_variant H60P 179A>C BTCA-JP 6 18387953 18387953 single base substitution A C intron_variant BTCA-JP 6 18439879 18439879 single base substitution G A intron_variant BTCA-JP 6 18459878 18459878 single base substitution T G missense_variant C104G 310T>G BTCA-JP 6 18459878 18459878 single base substitution T G missense_variant C193G 577T>G BTCA-JP 6 18459947 18459947 single base substitution C T missense_variant H127Y 379C>T BTCA-JP 6 18459947 18459947 single base substitution C T missense_variant H216Y 646C>T CLLE-ES 6 18388185 18388185 single base substitution A G intron_variant CLLE-ES 6 18401214 18401214 single base substitution T A intron_variant CLLE-ES 6 18417256 18417256 single base substitution G C intron_variant CLLE-ES 6 18426649 18426649 single base substitution C T intron_variant CLLE-ES 6 18440486 18440486 single base substitution T C intron_variant CLLE-ES 6 18443435 18443435 single base substitution C A intron_variant COCA-CN 6 18365027 18365027 single base substitution T C upstream_gene_variant COCA-CN 6 18367306 18367306 single base substitution T G upstream_gene_variant COCA-CN 6 18368880 18368880 single base substitution G A 5_prime_UTR_variant COCA-CN 6 18377794 18377794 single base substitution A T intron_variant COCA-CN 6 18387960 18387960 single base substitution A C intron_variant COCA-CN 6 18396317 18396317 single base substitution C T intron_variant COCA-CN 6 18406387 18406387 single base substitution G A downstream_gene_variant COCA-CN 6 18406387 18406387 single base substitution G A intron_variant COCA-CN 6 18411235 18411235 single base substitution G T intron_variant COCA-CN 6 18431050 18431050 single base substitution C T intron_variant COCA-CN 6 18437739 18437739 single base substitution A T intron_variant COCA-CN 6 18447096 18447096 single base substitution G C intron_variant COCA-CN 6 18447102 18447102 single base substitution G C intron_variant COCA-CN 6 18447106 18447106 single base substitution C G intron_variant COCA-CN 6 18457637 18457637 single base substitution G T intron_variant COCA-CN 6 18460052 18460052 single base substitution G T intron_variant COCA-CN 6 18463651 18463651 single base substitution C T intron_variant EOPC-DE 6 18428332 18428332 single base substitution G A intron_variant ESAD-UK 6 18365711 18365711 single base substitution T C upstream_gene_variant ESAD-UK 6 18367407 18367407 single base substitution C A upstream_gene_variant ESAD-UK 6 18367473 18367473 single base substitution A G upstream_gene_variant ESAD-UK 6 18368717 18368717 single base substitution G A upstream_gene_variant ESAD-UK 6 18369303 18369303 single base substitution T C intron_variant ESAD-UK 6 18369831 18369831 single base substitution T A intron_variant ESAD-UK 6 18377309 18377309 insertion of <=200bp - AT intron_variant ESAD-UK 6 18377521 18377521 single base substitution G C intron_variant ESAD-UK 6 18378376 18378376 single base substitution A C intron_variant ESAD-UK 6 18378469 18378469 insertion of <=200bp - T intron_variant ESAD-UK 6 18382422 18382422 single base substitution T C intron_variant ESAD-UK 6 18383611 18383611 single base substitution C T intron_variant ESAD-UK 6 18383611 18383611 single base substitution C T upstream_gene_variant ESAD-UK 6 18386611 18386611 single base substitution T G intron_variant ESAD-UK 6 18386611 18386611 single base substitution T G upstream_gene_variant ESAD-UK 6 18386651 18386651 single base substitution T C intron_variant ESAD-UK 6 18386651 18386651 single base substitution T C upstream_gene_variant ESAD-UK 6 18387443 18387443 insertion of <=200bp - AGTAG intron_variant ESAD-UK 6 18387443 18387443 insertion of <=200bp - AGTAG upstream_gene_variant ESAD-UK 6 18387657 18387657 single base substitution C G 5_prime_UTR_variant ESAD-UK 6 18387657 18387657 single base substitution C G intron_variant ESAD-UK 6 18387657 18387657 single base substitution C G upstream_gene_variant ESAD-UK 6 18388651 18388651 single base substitution G A intron_variant ESAD-UK 6 18388919 18388919 single base substitution T C intron_variant ESAD-UK 6 18389426 18389426 single base substitution C T intron_variant ESAD-UK 6 18394110 18394110 single base substitution C T intron_variant ESAD-UK 6 18394220 18394220 single base substitution T G intron_variant ESAD-UK 6 18394697 18394697 single base substitution T C intron_variant ESAD-UK 6 18394848 18394848 single base substitution A G intron_variant ESAD-UK 6 18396219 18396219 single base substitution T G intron_variant ESAD-UK 6 18396323 18396323 deletion of <=200bp T - intron_variant ESAD-UK 6 18398664 18398664 single base substitution G A intron_variant ESAD-UK 6 18399076 18399076 single base substitution T G intron_variant ESAD-UK 6 18400091 18400096 deletion of <=200bp AATGGT - intron_variant ESAD-UK 6 18401455 18401455 single base substitution G A intron_variant ESAD-UK 6 18401868 18401868 single base substitution A T intron_variant ESAD-UK 6 18403151 18403151 single base substitution T G downstream_gene_variant ESAD-UK 6 18403151 18403151 single base substitution T G intron_variant ESAD-UK 6 18405686 18405686 single base substitution G A downstream_gene_variant ESAD-UK 6 18405686 18405686 single base substitution G A intron_variant ESAD-UK 6 18407683 18407683 single base substitution T G intron_variant ESAD-UK 6 18407954 18407954 single base substitution A G intron_variant ESAD-UK 6 18408337 18408337 single base substitution T A intron_variant ESAD-UK 6 18409237 18409237 single base substitution C G intron_variant ESAD-UK 6 18410097 18410097 single base substitution C T intron_variant ESAD-UK 6 18412898 18412898 single base substitution T A intron_variant ESAD-UK 6 18414345 18414345 single base substitution T G intron_variant ESAD-UK 6 18414892 18414892 single base substitution G A intron_variant ESAD-UK 6 18415217 18415217 single base substitution C T intron_variant ESAD-UK 6 18418538 18418538 single base substitution C T intron_variant ESAD-UK 6 18420379 18420379 single base substitution C T intron_variant ESAD-UK 6 18422531 18422531 single base substitution G C intron_variant ESAD-UK 6 18423773 18423773 single base substitution C G intron_variant ESAD-UK 6 18427388 18427388 single base substitution G A intron_variant ESAD-UK 6 18427687 18427687 single base substitution T C intron_variant ESAD-UK 6 18427842 18427842 single base substitution C T intron_variant ESAD-UK 6 18427842 18427842 single base substitution C T stop_gained R66* 196C>T ESAD-UK 6 18428293 18428293 single base substitution C T intron_variant ESAD-UK 6 18428294 18428294 single base substitution A T intron_variant ESAD-UK 6 18430895 18430895 single base substitution T A intron_variant ESAD-UK 6 18431168 18431168 single base substitution T C intron_variant ESAD-UK 6 18432400 18432400 single base substitution A G intron_variant ESAD-UK 6 18432787 18432787 single base substitution C T intron_variant ESAD-UK 6 18433204 18433204 single base substitution A G intron_variant ESAD-UK 6 18437402 18437402 single base substitution G A intron_variant ESAD-UK 6 18437905 18437905 single base substitution T A intron_variant ESAD-UK 6 18439070 18439070 single base substitution G C intron_variant ESAD-UK 6 18439841 18439842 deletion of <=200bp AG - intron_variant ESAD-UK 6 18439985 18439985 single base substitution C T intron_variant ESAD-UK 6 18440904 18440904 single base substitution G A intron_variant ESAD-UK 6 18441784 18441784 single base substitution A G intron_variant ESAD-UK 6 18442195 18442195 deletion of <=200bp T - intron_variant ESAD-UK 6 18442237 18442237 single base substitution C G intron_variant ESAD-UK 6 18445290 18445290 single base substitution A C intron_variant ESAD-UK 6 18446887 18446887 single base substitution T G intron_variant ESAD-UK 6 18447721 18447721 single base substitution G A intron_variant ESAD-UK 6 18447819 18447819 single base substitution T C intron_variant ESAD-UK 6 18450547 18450547 single base substitution T A intron_variant ESAD-UK 6 18450614 18450614 single base substitution C T intron_variant ESAD-UK 6 18452287 18452287 single base substitution C G intron_variant ESAD-UK 6 18452727 18452727 single base substitution A C intron_variant ESAD-UK 6 18452962 18452962 single base substitution T C intron_variant ESAD-UK 6 18455928 18455928 single base substitution G C intron_variant ESAD-UK 6 18455975 18455975 single base substitution G C intron_variant ESAD-UK 6 18456124 18456124 deletion of <=200bp T - intron_variant ESAD-UK 6 18456150 18456150 insertion of <=200bp - T intron_variant ESAD-UK 6 18456164 18456164 insertion of <=200bp - T intron_variant ESAD-UK 6 18456483 18456483 single base substitution A C intron_variant ESAD-UK 6 18456522 18456522 single base substitution G A intron_variant ESAD-UK 6 18457495 18457495 single base substitution T G synonymous_variant S147S 441T>G ESAD-UK 6 18457495 18457495 single base substitution T G synonymous_variant S58S 174T>G ESAD-UK 6 18457647 18457647 single base substitution A G intron_variant ESAD-UK 6 18461247 18461247 single base substitution C T intron_variant ESAD-UK 6 18461269 18461269 single base substitution C G intron_variant ESAD-UK 6 18462516 18462516 single base substitution G C intron_variant ESAD-UK 6 18464334 18464342 deletion of <=200bp CTTCTAGGG - intron_variant ESAD-UK 6 18465053 18465053 single base substitution G T intron_variant ESAD-UK 6 18465367 18465367 single base substitution A C 3_prime_UTR_variant ESAD-UK 6 18467640 18467640 single base substitution T G 3_prime_UTR_variant ESAD-UK 6 18467640 18467640 single base substitution T G downstream_gene_variant ESAD-UK 6 18467641 18467641 single base substitution T G 3_prime_UTR_variant ESAD-UK 6 18467641 18467641 single base substitution T G downstream_gene_variant ESAD-UK 6 18467708 18467708 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 6 18467708 18467708 insertion of <=200bp - T downstream_gene_variant ESAD-UK 6 18468965 18468965 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 18468965 18468965 single base substitution C T downstream_gene_variant ESAD-UK 6 18470490 18470490 single base substitution C T downstream_gene_variant ESAD-UK 6 18471277 18471277 single base substitution T G downstream_gene_variant ESAD-UK 6 18471283 18471283 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 18471339 18471339 single base substitution G T downstream_gene_variant ESAD-UK 6 18471340 18471340 single base substitution A T downstream_gene_variant ESAD-UK 6 18472453 18472453 single base substitution T A downstream_gene_variant LAML-KR 6 18373293 18373293 single base substitution A G intron_variant LAML-KR 6 18373295 18373295 single base substitution A G intron_variant LAML-KR 6 18387692 18387692 single base substitution A G 5_prime_UTR_variant LAML-KR 6 18387692 18387692 single base substitution A G intron_variant LAML-KR 6 18387692 18387692 single base substitution A G upstream_gene_variant LAML-KR 6 18392331 18392331 single base substitution T C intron_variant LAML-KR 6 18392350 18392350 single base substitution A G intron_variant LICA-CN 6 18465183 18465183 single base substitution G T missense_variant G177V 530G>T LICA-CN 6 18465183 18465183 single base substitution G T missense_variant G266V 797G>T LICA-FR 6 18379723 18379723 insertion of <=200bp - A intron_variant LICA-FR 6 18412005 18412005 single base substitution G A intron_variant LICA-FR 6 18415350 18415350 single base substitution T C intron_variant LICA-FR 6 18448948 18448948 insertion of <=200bp - CACACC intron_variant LICA-FR 6 18469096 18469096 single base substitution A G 3_prime_UTR_variant LICA-FR 6 18469096 18469096 single base substitution A G downstream_gene_variant LIHC-US 6 18465185 18465185 single base substitution A G missense_variant I178V 532A>G LIHC-US 6 18465185 18465185 single base substitution A G missense_variant I267V 799A>G LINC-JP 6 18389807 18389807 single base substitution T A intron_variant LINC-JP 6 18395619 18395619 single base substitution G T intron_variant LINC-JP 6 18405126 18405136 deletion of <=200bp TGAGAATTCTC - downstream_gene_variant LINC-JP 6 18405126 18405136 deletion of <=200bp TGAGAATTCTC - intron_variant LINC-JP 6 18408063 18408063 single base substitution G C intron_variant LINC-JP 6 18420759 18420759 single base substitution G A intron_variant LINC-JP 6 18426171 18426171 single base substitution G T intron_variant LINC-JP 6 18427488 18427488 insertion of <=200bp - T intron_variant LINC-JP 6 18430737 18430737 single base substitution C T intron_variant LINC-JP 6 18439997 18439997 single base substitution C T intron_variant LINC-JP 6 18440028 18440028 single base substitution T G intron_variant LINC-JP 6 18456123 18456123 single base substitution G T intron_variant LINC-JP 6 18456290 18456290 single base substitution A G intron_variant LINC-JP 6 18459633 18459633 single base substitution T A intron_variant LINC-JP 6 18459634 18459634 single base substitution A T intron_variant LINC-JP 6 18463560 18463560 single base substitution C T synonymous_variant C151C 453C>T LINC-JP 6 18463560 18463560 single base substitution C T synonymous_variant C240C 720C>T LIRI-JP 6 18364077 18364077 single base substitution G A upstream_gene_variant LIRI-JP 6 18367659 18367659 single base substitution G A upstream_gene_variant LIRI-JP 6 18368627 18368627 single base substitution G A upstream_gene_variant LIRI-JP 6 18371091 18371091 single base substitution G T intron_variant LIRI-JP 6 18371681 18371681 single base substitution A T intron_variant LIRI-JP 6 18373709 18373709 single base substitution T A intron_variant LIRI-JP 6 18374454 18374454 single base substitution T G intron_variant LIRI-JP 6 18374690 18374690 single base substitution A T intron_variant LIRI-JP 6 18374694 18374694 single base substitution A T intron_variant LIRI-JP 6 18375453 18375453 single base substitution C T intron_variant LIRI-JP 6 18379422 18379422 single base substitution T C intron_variant LIRI-JP 6 18380623 18380623 single base substitution T A intron_variant LIRI-JP 6 18381820 18381820 single base substitution T C intron_variant LIRI-JP 6 18381999 18381999 single base substitution G A intron_variant LIRI-JP 6 18384130 18384130 insertion of <=200bp - C intron_variant LIRI-JP 6 18384130 18384130 insertion of <=200bp - C upstream_gene_variant LIRI-JP 6 18384175 18384175 single base substitution T C intron_variant LIRI-JP 6 18384175 18384175 single base substitution T C upstream_gene_variant LIRI-JP 6 18384276 18384276 single base substitution C T intron_variant LIRI-JP 6 18384276 18384276 single base substitution C T upstream_gene_variant LIRI-JP 6 18386258 18386258 single base substitution G A intron_variant LIRI-JP 6 18386258 18386258 single base substitution G A upstream_gene_variant LIRI-JP 6 18388536 18388536 single base substitution T G intron_variant LIRI-JP 6 18388972 18388972 single base substitution A G intron_variant LIRI-JP 6 18390588 18390588 single base substitution G T intron_variant LIRI-JP 6 18392986 18392986 single base substitution A G intron_variant LIRI-JP 6 18393657 18393657 single base substitution A G intron_variant LIRI-JP 6 18394119 18394119 single base substitution T G intron_variant LIRI-JP 6 18394273 18394273 single base substitution C T intron_variant LIRI-JP 6 18395476 18395476 single base substitution G T intron_variant LIRI-JP 6 18400721 18400721 single base substitution C T intron_variant LIRI-JP 6 18403483 18403483 single base substitution A G downstream_gene_variant LIRI-JP 6 18403483 18403483 single base substitution A G intron_variant LIRI-JP 6 18404037 18404037 single base substitution G A downstream_gene_variant LIRI-JP 6 18404037 18404037 single base substitution G A intron_variant LIRI-JP 6 18404951 18404951 single base substitution A G downstream_gene_variant LIRI-JP 6 18404951 18404951 single base substitution A G intron_variant LIRI-JP 6 18407191 18407191 single base substitution A C downstream_gene_variant LIRI-JP 6 18407191 18407191 single base substitution A C intron_variant LIRI-JP 6 18408034 18408034 single base substitution C A intron_variant LIRI-JP 6 18408355 18408355 single base substitution A G intron_variant LIRI-JP 6 18408397 18408397 single base substitution A G intron_variant LIRI-JP 6 18408675 18408675 single base substitution T C intron_variant LIRI-JP 6 18408803 18408803 single base substitution C T intron_variant LIRI-JP 6 18411608 18411609 deletion of <=200bp AC - intron_variant LIRI-JP 6 18420861 18420861 single base substitution T C intron_variant LIRI-JP 6 18420922 18420922 single base substitution A G intron_variant LIRI-JP 6 18421784 18421784 single base substitution A T intron_variant LIRI-JP 6 18423035 18423035 single base substitution A G intron_variant LIRI-JP 6 18424861 18424861 single base substitution A T intron_variant LIRI-JP 6 18425079 18425084 deletion of <=200bp CTCCAC - intron_variant LIRI-JP 6 18427832 18427832 single base substitution G A intron_variant LIRI-JP 6 18427832 18427832 single base substitution G A synonymous_variant Q62Q 186G>A LIRI-JP 6 18428778 18428778 single base substitution A C intron_variant LIRI-JP 6 18432121 18432121 single base substitution A T intron_variant LIRI-JP 6 18433826 18433826 single base substitution A G intron_variant LIRI-JP 6 18434878 18434878 single base substitution A G intron_variant LIRI-JP 6 18439775 18439775 single base substitution A G intron_variant LIRI-JP 6 18441012 18441017 deletion of <=200bp TTTGTT - intron_variant LIRI-JP 6 18441145 18441145 single base substitution G T intron_variant LIRI-JP 6 18442746 18442746 single base substitution A G intron_variant LIRI-JP 6 18443727 18443727 single base substitution A C intron_variant LIRI-JP 6 18444097 18444097 single base substitution A G intron_variant LIRI-JP 6 18445128 18445128 single base substitution A T intron_variant LIRI-JP 6 18445476 18445476 single base substitution A G intron_variant LIRI-JP 6 18446772 18446772 single base substitution G C intron_variant LIRI-JP 6 18450497 18450497 single base substitution G A intron_variant LIRI-JP 6 18452351 18452351 single base substitution A G intron_variant LIRI-JP 6 18452384 18452384 single base substitution T C intron_variant LIRI-JP 6 18452398 18452398 insertion of <=200bp - T intron_variant LIRI-JP 6 18452503 18452503 single base substitution G A intron_variant LIRI-JP 6 18452600 18452600 single base substitution A G intron_variant LIRI-JP 6 18456395 18456395 single base substitution C T intron_variant LIRI-JP 6 18460091 18460091 single base substitution A G intron_variant LIRI-JP 6 18460217 18460217 single base substitution C A intron_variant LIRI-JP 6 18464041 18464041 single base substitution C A intron_variant LIRI-JP 6 18466117 18466117 single base substitution A C 3_prime_UTR_variant LIRI-JP 6 18466117 18466117 single base substitution A C downstream_gene_variant LIRI-JP 6 18467007 18467007 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 6 18467007 18467007 deletion of <=200bp G - downstream_gene_variant LIRI-JP 6 18467702 18467702 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 18467702 18467702 single base substitution A G downstream_gene_variant LIRI-JP 6 18468814 18468821 deletion of <=200bp ACAGTACT - 3_prime_UTR_variant LIRI-JP 6 18468814 18468821 deletion of <=200bp ACAGTACT - downstream_gene_variant LIRI-JP 6 18469486 18469486 single base substitution G T downstream_gene_variant LIRI-JP 6 18470379 18470379 single base substitution T A downstream_gene_variant LUSC-KR 6 18366699 18366699 single base substitution C T upstream_gene_variant LUSC-KR 6 18368248 18368248 single base substitution C T upstream_gene_variant LUSC-KR 6 18368880 18368880 single base substitution G A 5_prime_UTR_variant LUSC-KR 6 18369992 18369992 single base substitution C G intron_variant LUSC-KR 6 18373295 18373295 single base substitution A G intron_variant LUSC-KR 6 18374398 18374398 single base substitution C T intron_variant LUSC-KR 6 18376573 18376573 single base substitution C T intron_variant LUSC-KR 6 18383656 18383656 single base substitution C A intron_variant LUSC-KR 6 18383656 18383656 single base substitution C A upstream_gene_variant LUSC-KR 6 18385562 18385562 single base substitution C T intron_variant LUSC-KR 6 18385562 18385562 single base substitution C T upstream_gene_variant LUSC-KR 6 18386490 18386490 single base substitution C G intron_variant LUSC-KR 6 18386490 18386490 single base substitution C G upstream_gene_variant LUSC-KR 6 18387692 18387692 single base substitution A G 5_prime_UTR_variant LUSC-KR 6 18387692 18387692 single base substitution A G intron_variant LUSC-KR 6 18387692 18387692 single base substitution A G upstream_gene_variant LUSC-KR 6 18388884 18388884 single base substitution G A intron_variant LUSC-KR 6 18404195 18404195 single base substitution G A downstream_gene_variant LUSC-KR 6 18404195 18404195 single base substitution G A intron_variant LUSC-KR 6 18405658 18405658 single base substitution G A downstream_gene_variant LUSC-KR 6 18405658 18405658 single base substitution G A intron_variant LUSC-KR 6 18406127 18406127 single base substitution C T downstream_gene_variant LUSC-KR 6 18406127 18406127 single base substitution C T intron_variant LUSC-KR 6 18408252 18408252 single base substitution G T intron_variant LUSC-KR 6 18412294 18412294 single base substitution A G intron_variant LUSC-KR 6 18412595 18412595 single base substitution C T intron_variant LUSC-KR 6 18414070 18414070 single base substitution G T intron_variant LUSC-KR 6 18417145 18417145 single base substitution G C intron_variant LUSC-KR 6 18419673 18419673 single base substitution A G intron_variant LUSC-KR 6 18424328 18424328 single base substitution G C intron_variant LUSC-KR 6 18429131 18429131 single base substitution G T intron_variant LUSC-KR 6 18430031 18430031 single base substitution G T intron_variant LUSC-KR 6 18430531 18430531 single base substitution C G intron_variant LUSC-KR 6 18431740 18431740 single base substitution C G intron_variant LUSC-KR 6 18434706 18434706 single base substitution G A intron_variant LUSC-KR 6 18444028 18444028 single base substitution C T intron_variant LUSC-KR 6 18444970 18444970 single base substitution G C intron_variant LUSC-KR 6 18446431 18446431 single base substitution G T intron_variant LUSC-KR 6 18447106 18447106 single base substitution C G intron_variant LUSC-KR 6 18447330 18447330 single base substitution G T intron_variant LUSC-KR 6 18451725 18451725 single base substitution A G intron_variant LUSC-KR 6 18453753 18453753 single base substitution T A intron_variant LUSC-KR 6 18454041 18454041 single base substitution A C intron_variant LUSC-KR 6 18455622 18455622 single base substitution A G intron_variant LUSC-KR 6 18459736 18459736 single base substitution A C intron_variant LUSC-KR 6 18459911 18459911 single base substitution G T stop_gained E115* 343G>T LUSC-KR 6 18459911 18459911 single base substitution G T stop_gained E204* 610G>T LUSC-KR 6 18460653 18460653 single base substitution A G intron_variant LUSC-KR 6 18462303 18462303 single base substitution G A intron_variant LUSC-KR 6 18462489 18462489 single base substitution C A intron_variant LUSC-KR 6 18462847 18462847 single base substitution C T intron_variant LUSC-KR 6 18464629 18464629 single base substitution C T intron_variant LUSC-KR 6 18465024 18465024 single base substitution G T intron_variant LUSC-KR 6 18467522 18467522 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 18467522 18467522 single base substitution G A downstream_gene_variant LUSC-KR 6 18468114 18468114 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 18468114 18468114 single base substitution C T downstream_gene_variant LUSC-KR 6 18471953 18471953 single base substitution C T downstream_gene_variant MALY-DE 6 18371257 18371257 single base substitution G T intron_variant MALY-DE 6 18373536 18373536 single base substitution G T intron_variant MALY-DE 6 18374258 18374258 single base substitution A G intron_variant MALY-DE 6 18374301 18374301 single base substitution T G intron_variant MALY-DE 6 18375963 18375963 single base substitution G C intron_variant MALY-DE 6 18376686 18376686 single base substitution A G intron_variant MALY-DE 6 18386613 18386613 single base substitution T A intron_variant MALY-DE 6 18386613 18386613 single base substitution T A upstream_gene_variant MALY-DE 6 18387300 18387300 single base substitution G A intron_variant MALY-DE 6 18387300 18387300 single base substitution G A upstream_gene_variant MALY-DE 6 18387710 18387710 single base substitution G C 5_prime_UTR_variant MALY-DE 6 18387710 18387710 single base substitution G C intron_variant MALY-DE 6 18387710 18387710 single base substitution G C upstream_gene_variant MALY-DE 6 18387875 18387875 single base substitution G A intron_variant MALY-DE 6 18387875 18387875 single base substitution G C intron_variant MALY-DE 6 18387887 18387887 single base substitution C G intron_variant MALY-DE 6 18387907 18387907 single base substitution G C intron_variant MALY-DE 6 18387910 18387910 single base substitution T A intron_variant MALY-DE 6 18387923 18387923 single base substitution C G intron_variant MALY-DE 6 18387944 18387944 single base substitution C G intron_variant MALY-DE 6 18387986 18387986 single base substitution C G intron_variant MALY-DE 6 18388002 18388002 single base substitution C G intron_variant MALY-DE 6 18388035 18388044 deletion of <=200bp AACTTAGAAG - intron_variant MALY-DE 6 18388052 18388052 single base substitution C T intron_variant MALY-DE 6 18388088 18388088 single base substitution A G intron_variant MALY-DE 6 18388166 18388166 single base substitution G C intron_variant MALY-DE 6 18388257 18388257 single base substitution C G intron_variant MALY-DE 6 18388257 18388257 single base substitution C T intron_variant MALY-DE 6 18388353 18388353 single base substitution A C intron_variant MALY-DE 6 18388371 18388371 single base substitution G A intron_variant MALY-DE 6 18388398 18388398 single base substitution C G intron_variant MALY-DE 6 18388491 18388491 single base substitution G C intron_variant MALY-DE 6 18388525 18388525 single base substitution C G intron_variant MALY-DE 6 18388626 18388626 single base substitution C T intron_variant MALY-DE 6 18388920 18388920 single base substitution G A intron_variant MALY-DE 6 18389089 18389089 single base substitution A G intron_variant MALY-DE 6 18389368 18389368 single base substitution C T intron_variant MALY-DE 6 18401586 18401586 single base substitution T G intron_variant MALY-DE 6 18405685 18405685 single base substitution C T downstream_gene_variant MALY-DE 6 18405685 18405685 single base substitution C T intron_variant MALY-DE 6 18408919 18408919 single base substitution G A intron_variant MALY-DE 6 18421548 18421548 single base substitution T C intron_variant MALY-DE 6 18422374 18422374 single base substitution G T intron_variant MALY-DE 6 18430171 18430171 single base substitution C T intron_variant MALY-DE 6 18453753 18453753 single base substitution T A intron_variant MALY-DE 6 18453926 18453926 single base substitution A T intron_variant MALY-DE 6 18454745 18454745 single base substitution A C intron_variant MALY-DE 6 18456705 18456705 single base substitution C T intron_variant MALY-DE 6 18458968 18458968 single base substitution T A intron_variant MALY-DE 6 18459751 18459751 single base substitution T C intron_variant MELA-AU 6 18364152 18364152 single base substitution C G upstream_gene_variant MELA-AU 6 18364187 18364187 single base substitution G A upstream_gene_variant MELA-AU 6 18364698 18364698 single base substitution C T upstream_gene_variant MELA-AU 6 18364814 18364814 single base substitution C T upstream_gene_variant MELA-AU 6 18365126 18365126 single base substitution T G upstream_gene_variant MELA-AU 6 18365219 18365219 single base substitution C T upstream_gene_variant MELA-AU 6 18365297 18365297 single base substitution C T upstream_gene_variant MELA-AU 6 18365499 18365499 single base substitution C T upstream_gene_variant MELA-AU 6 18365782 18365782 single base substitution G A upstream_gene_variant MELA-AU 6 18365809 18365809 single base substitution T A upstream_gene_variant MELA-AU 6 18365961 18365961 single base substitution C T upstream_gene_variant MELA-AU 6 18366210 18366210 single base substitution G A upstream_gene_variant MELA-AU 6 18366342 18366342 single base substitution G A upstream_gene_variant MELA-AU 6 18366399 18366399 single base substitution G A upstream_gene_variant MELA-AU 6 18366422 18366422 single base substitution C T upstream_gene_variant MELA-AU 6 18366596 18366596 single base substitution C T upstream_gene_variant MELA-AU 6 18366792 18366792 single base substitution G A upstream_gene_variant MELA-AU 6 18366833 18366833 single base substitution C T upstream_gene_variant MELA-AU 6 18366983 18366983 single base substitution C T upstream_gene_variant MELA-AU 6 18367179 18367179 single base substitution G A upstream_gene_variant MELA-AU 6 18367213 18367213 single base substitution C T upstream_gene_variant MELA-AU 6 18367306 18367306 single base substitution T G upstream_gene_variant MELA-AU 6 18367516 18367516 single base substitution G A upstream_gene_variant MELA-AU 6 18367608 18367608 single base substitution T C upstream_gene_variant MELA-AU 6 18367909 18367909 single base substitution C T upstream_gene_variant MELA-AU 6 18368148 18368148 single base substitution G A upstream_gene_variant MELA-AU 6 18368228 18368228 single base substitution C T upstream_gene_variant MELA-AU 6 18368268 18368268 single base substitution G A upstream_gene_variant MELA-AU 6 18368319 18368319 single base substitution G A upstream_gene_variant MELA-AU 6 18368334 18368334 single base substitution C T upstream_gene_variant MELA-AU 6 18368642 18368642 single base substitution G A upstream_gene_variant MELA-AU 6 18368698 18368698 single base substitution G A upstream_gene_variant MELA-AU 6 18368728 18368728 single base substitution C T upstream_gene_variant MELA-AU 6 18368835 18368835 single base substitution G A 5_prime_UTR_variant MELA-AU 6 18369283 18369283 single base substitution G A intron_variant MELA-AU 6 18369307 18369307 single base substitution G A intron_variant MELA-AU 6 18369593 18369593 single base substitution G A intron_variant MELA-AU 6 18369643 18369643 single base substitution C T intron_variant MELA-AU 6 18369764 18369764 single base substitution C T intron_variant MELA-AU 6 18370020 18370020 single base substitution C T intron_variant MELA-AU 6 18370049 18370049 deletion of <=200bp T - intron_variant MELA-AU 6 18370067 18370067 single base substitution T C intron_variant MELA-AU 6 18370284 18370284 single base substitution C T intron_variant MELA-AU 6 18370371 18370371 single base substitution G A intron_variant MELA-AU 6 18370696 18370696 single base substitution C T intron_variant MELA-AU 6 18370741 18370741 single base substitution C A intron_variant MELA-AU 6 18370797 18370797 single base substitution C T intron_variant MELA-AU 6 18371100 18371100 single base substitution C T intron_variant MELA-AU 6 18371467 18371467 single base substitution C T intron_variant MELA-AU 6 18371755 18371755 single base substitution G A intron_variant MELA-AU 6 18372255 18372255 single base substitution G A intron_variant MELA-AU 6 18372902 18372903 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 18373215 18373215 single base substitution G A intron_variant MELA-AU 6 18373326 18373326 single base substitution G A intron_variant MELA-AU 6 18373340 18373340 single base substitution G A intron_variant MELA-AU 6 18373358 18373358 single base substitution G A intron_variant MELA-AU 6 18373802 18373802 single base substitution C T intron_variant MELA-AU 6 18374233 18374233 single base substitution G A intron_variant MELA-AU 6 18374538 18374538 single base substitution G A intron_variant MELA-AU 6 18374749 18374750 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 6 18374804 18374804 single base substitution G A intron_variant MELA-AU 6 18374887 18374887 single base substitution C T intron_variant MELA-AU 6 18374903 18374903 single base substitution C T intron_variant MELA-AU 6 18375288 18375288 single base substitution G A intron_variant MELA-AU 6 18375426 18375426 single base substitution G A intron_variant MELA-AU 6 18375656 18375657 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 18375683 18375683 single base substitution G A intron_variant MELA-AU 6 18375823 18375823 single base substitution C T intron_variant MELA-AU 6 18375862 18375862 single base substitution G T intron_variant MELA-AU 6 18375896 18375896 single base substitution G A intron_variant MELA-AU 6 18376142 18376142 single base substitution G A intron_variant MELA-AU 6 18376169 18376169 single base substitution G A intron_variant MELA-AU 6 18376457 18376457 single base substitution G A intron_variant MELA-AU 6 18376536 18376536 single base substitution G A intron_variant MELA-AU 6 18377015 18377015 single base substitution C T intron_variant MELA-AU 6 18377440 18377440 single base substitution G A intron_variant MELA-AU 6 18377588 18377588 single base substitution C T intron_variant MELA-AU 6 18378269 18378269 single base substitution G A intron_variant MELA-AU 6 18378385 18378385 single base substitution C T intron_variant MELA-AU 6 18378522 18378522 single base substitution C T intron_variant MELA-AU 6 18378530 18378530 single base substitution G A intron_variant MELA-AU 6 18378593 18378593 single base substitution G A intron_variant MELA-AU 6 18378649 18378649 single base substitution T A intron_variant MELA-AU 6 18378685 18378685 single base substitution C T intron_variant MELA-AU 6 18379038 18379038 single base substitution C A intron_variant MELA-AU 6 18379315 18379315 single base substitution G A intron_variant MELA-AU 6 18379439 18379439 single base substitution T G intron_variant MELA-AU 6 18379685 18379685 single base substitution G A intron_variant MELA-AU 6 18379827 18379827 single base substitution G A intron_variant MELA-AU 6 18379866 18379866 single base substitution G A intron_variant MELA-AU 6 18380018 18380018 single base substitution G A intron_variant MELA-AU 6 18380073 18380073 single base substitution C T intron_variant MELA-AU 6 18380427 18380427 single base substitution G A intron_variant MELA-AU 6 18380637 18380637 single base substitution G A intron_variant MELA-AU 6 18380652 18380652 single base substitution G A intron_variant MELA-AU 6 18380681 18380681 single base substitution A C intron_variant MELA-AU 6 18381021 18381021 single base substitution A C intron_variant MELA-AU 6 18381055 18381055 single base substitution G A intron_variant MELA-AU 6 18381130 18381130 single base substitution G A intron_variant MELA-AU 6 18381314 18381314 single base substitution G A intron_variant MELA-AU 6 18382349 18382349 single base substitution G A intron_variant MELA-AU 6 18383045 18383045 single base substitution G A intron_variant MELA-AU 6 18383045 18383045 single base substitution G A upstream_gene_variant MELA-AU 6 18383506 18383506 single base substitution C T intron_variant MELA-AU 6 18383506 18383506 single base substitution C T upstream_gene_variant MELA-AU 6 18383638 18383638 single base substitution C G intron_variant MELA-AU 6 18383638 18383638 single base substitution C G upstream_gene_variant MELA-AU 6 18384086 18384086 single base substitution C T intron_variant MELA-AU 6 18384086 18384086 single base substitution C T upstream_gene_variant MELA-AU 6 18384133 18384133 single base substitution C A intron_variant MELA-AU 6 18384133 18384133 single base substitution C A upstream_gene_variant MELA-AU 6 18384259 18384259 single base substitution G A intron_variant MELA-AU 6 18384259 18384259 single base substitution G A upstream_gene_variant MELA-AU 6 18384509 18384509 single base substitution T C intron_variant MELA-AU 6 18384509 18384509 single base substitution T C upstream_gene_variant MELA-AU 6 18384593 18384594 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 18384593 18384594 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 18384823 18384823 single base substitution C T intron_variant MELA-AU 6 18384823 18384823 single base substitution C T upstream_gene_variant MELA-AU 6 18384836 18384836 single base substitution C T intron_variant MELA-AU 6 18384836 18384836 single base substitution C T upstream_gene_variant MELA-AU 6 18384855 18384855 single base substitution C T intron_variant MELA-AU 6 18384855 18384855 single base substitution C T upstream_gene_variant MELA-AU 6 18384861 18384861 single base substitution T C intron_variant MELA-AU 6 18384861 18384861 single base substitution T C upstream_gene_variant MELA-AU 6 18385094 18385094 single base substitution G A intron_variant MELA-AU 6 18385094 18385094 single base substitution G A upstream_gene_variant MELA-AU 6 18385129 18385129 single base substitution C T intron_variant MELA-AU 6 18385129 18385129 single base substitution C T upstream_gene_variant MELA-AU 6 18385654 18385654 single base substitution T C intron_variant MELA-AU 6 18385654 18385654 single base substitution T C upstream_gene_variant MELA-AU 6 18386567 18386567 single base substitution T A intron_variant MELA-AU 6 18386567 18386567 single base substitution T A upstream_gene_variant MELA-AU 6 18386761 18386761 single base substitution G A intron_variant MELA-AU 6 18386761 18386761 single base substitution G A upstream_gene_variant MELA-AU 6 18386953 18386953 single base substitution G A intron_variant MELA-AU 6 18386953 18386953 single base substitution G A upstream_gene_variant MELA-AU 6 18389652 18389652 single base substitution C T intron_variant MELA-AU 6 18391857 18391858 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 6 18392432 18392432 single base substitution C T intron_variant MELA-AU 6 18392614 18392614 single base substitution C T intron_variant MELA-AU 6 18392767 18392767 single base substitution C T intron_variant MELA-AU 6 18393520 18393520 single base substitution C T intron_variant MELA-AU 6 18394174 18394174 single base substitution C T intron_variant MELA-AU 6 18394451 18394451 single base substitution C T intron_variant MELA-AU 6 18394638 18394638 single base substitution G A intron_variant MELA-AU 6 18395877 18395877 single base substitution G T intron_variant MELA-AU 6 18397157 18397157 single base substitution C T intron_variant MELA-AU 6 18397854 18397854 single base substitution C T intron_variant MELA-AU 6 18397973 18397973 single base substitution C G intron_variant MELA-AU 6 18398637 18398637 single base substitution C T intron_variant MELA-AU 6 18399345 18399346 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 18399550 18399550 single base substitution T G intron_variant MELA-AU 6 18399599 18399599 single base substitution C T intron_variant MELA-AU 6 18399717 18399717 single base substitution G A intron_variant MELA-AU 6 18400329 18400329 single base substitution C G intron_variant MELA-AU 6 18400889 18400889 single base substitution G A intron_variant MELA-AU 6 18403390 18403390 single base substitution C T downstream_gene_variant MELA-AU 6 18403390 18403390 single base substitution C T intron_variant MELA-AU 6 18403793 18403793 single base substitution C T downstream_gene_variant MELA-AU 6 18403793 18403793 single base substitution C T intron_variant MELA-AU 6 18403849 18403849 single base substitution C T downstream_gene_variant MELA-AU 6 18403849 18403849 single base substitution C T intron_variant MELA-AU 6 18404030 18404030 single base substitution G C downstream_gene_variant MELA-AU 6 18404030 18404030 single base substitution G C intron_variant MELA-AU 6 18404501 18404501 single base substitution C T downstream_gene_variant MELA-AU 6 18404501 18404501 single base substitution C T intron_variant MELA-AU 6 18405405 18405405 single base substitution A G downstream_gene_variant MELA-AU 6 18405405 18405405 single base substitution A G intron_variant MELA-AU 6 18406510 18406510 single base substitution C T downstream_gene_variant MELA-AU 6 18406510 18406510 single base substitution C T intron_variant MELA-AU 6 18407041 18407041 single base substitution C T downstream_gene_variant MELA-AU 6 18407041 18407041 single base substitution C T intron_variant MELA-AU 6 18407296 18407296 single base substitution C T downstream_gene_variant MELA-AU 6 18407296 18407296 single base substitution C T intron_variant MELA-AU 6 18408092 18408092 single base substitution C T intron_variant MELA-AU 6 18408246 18408246 single base substitution C T intron_variant MELA-AU 6 18408460 18408460 single base substitution C T intron_variant MELA-AU 6 18408610 18408610 single base substitution C T intron_variant MELA-AU 6 18409292 18409292 single base substitution C T intron_variant MELA-AU 6 18410395 18410395 single base substitution C T intron_variant MELA-AU 6 18411284 18411284 single base substitution C T intron_variant MELA-AU 6 18411895 18411895 single base substitution C T intron_variant MELA-AU 6 18412498 18412499 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 6 18412800 18412800 single base substitution C T intron_variant MELA-AU 6 18412928 18412928 single base substitution C T intron_variant MELA-AU 6 18413964 18413964 single base substitution G T intron_variant MELA-AU 6 18414096 18414096 single base substitution T C intron_variant MELA-AU 6 18414316 18414316 single base substitution G A intron_variant MELA-AU 6 18414499 18414499 single base substitution C T intron_variant MELA-AU 6 18415009 18415009 single base substitution A G intron_variant MELA-AU 6 18415177 18415177 single base substitution C T intron_variant MELA-AU 6 18415222 18415223 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 18415379 18415379 single base substitution A G intron_variant MELA-AU 6 18415396 18415396 single base substitution C T intron_variant MELA-AU 6 18415769 18415769 single base substitution C T intron_variant MELA-AU 6 18416490 18416490 single base substitution G A intron_variant MELA-AU 6 18416633 18416633 single base substitution G A intron_variant MELA-AU 6 18416743 18416743 single base substitution C T intron_variant MELA-AU 6 18416757 18416757 single base substitution G A intron_variant MELA-AU 6 18416758 18416759 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 18416798 18416798 single base substitution C T intron_variant MELA-AU 6 18417357 18417357 single base substitution C T intron_variant MELA-AU 6 18417470 18417470 single base substitution C T intron_variant MELA-AU 6 18417636 18417636 single base substitution C T intron_variant MELA-AU 6 18417660 18417660 single base substitution T G intron_variant MELA-AU 6 18417663 18417663 single base substitution T G intron_variant MELA-AU 6 18417895 18417896 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 18418292 18418292 single base substitution C T intron_variant MELA-AU 6 18418641 18418641 single base substitution T G intron_variant MELA-AU 6 18418752 18418752 single base substitution C T intron_variant MELA-AU 6 18419314 18419314 single base substitution T C intron_variant MELA-AU 6 18419497 18419497 single base substitution C T intron_variant MELA-AU 6 18419694 18419694 single base substitution C T intron_variant MELA-AU 6 18420178 18420178 single base substitution C T intron_variant MELA-AU 6 18420697 18420697 single base substitution A T intron_variant MELA-AU 6 18420848 18420848 single base substitution C T intron_variant MELA-AU 6 18421063 18421063 single base substitution C T intron_variant MELA-AU 6 18421619 18421619 single base substitution G T intron_variant MELA-AU 6 18421625 18421625 single base substitution A G intron_variant MELA-AU 6 18422733 18422733 single base substitution C T intron_variant MELA-AU 6 18423416 18423416 single base substitution C T intron_variant MELA-AU 6 18423964 18423964 single base substitution C T intron_variant MELA-AU 6 18424410 18424410 single base substitution C T intron_variant MELA-AU 6 18425451 18425451 single base substitution T C intron_variant MELA-AU 6 18425487 18425487 single base substitution C T intron_variant MELA-AU 6 18425749 18425749 single base substitution C T intron_variant MELA-AU 6 18425886 18425886 single base substitution C T intron_variant MELA-AU 6 18426500 18426500 single base substitution T C intron_variant MELA-AU 6 18426965 18426965 single base substitution C T intron_variant MELA-AU 6 18428637 18428637 single base substitution T C intron_variant MELA-AU 6 18428838 18428838 single base substitution G A intron_variant MELA-AU 6 18428937 18428937 single base substitution C T intron_variant MELA-AU 6 18430082 18430082 single base substitution C T intron_variant MELA-AU 6 18430917 18430917 single base substitution C T intron_variant MELA-AU 6 18431067 18431067 single base substitution C T intron_variant MELA-AU 6 18431355 18431355 single base substitution C T intron_variant MELA-AU 6 18431432 18431432 single base substitution G A intron_variant MELA-AU 6 18432522 18432522 single base substitution C T intron_variant MELA-AU 6 18433274 18433274 single base substitution G A intron_variant MELA-AU 6 18433450 18433450 single base substitution C T intron_variant MELA-AU 6 18433605 18433605 single base substitution C G intron_variant MELA-AU 6 18434120 18434120 single base substitution C T intron_variant MELA-AU 6 18434682 18434682 single base substitution C T intron_variant MELA-AU 6 18434774 18434774 single base substitution G A intron_variant MELA-AU 6 18434864 18434864 single base substitution G T intron_variant MELA-AU 6 18434916 18434916 single base substitution G A intron_variant MELA-AU 6 18435045 18435045 single base substitution G A intron_variant MELA-AU 6 18435441 18435441 single base substitution C T intron_variant MELA-AU 6 18435676 18435676 single base substitution G A intron_variant MELA-AU 6 18437217 18437217 single base substitution C T intron_variant MELA-AU 6 18437301 18437301 single base substitution C T intron_variant MELA-AU 6 18438662 18438662 single base substitution C T intron_variant MELA-AU 6 18439043 18439043 single base substitution C T intron_variant MELA-AU 6 18439489 18439489 single base substitution G A intron_variant MELA-AU 6 18440054 18440054 single base substitution A G intron_variant MELA-AU 6 18440313 18440313 single base substitution G T intron_variant MELA-AU 6 18440543 18440543 single base substitution C T intron_variant MELA-AU 6 18442312 18442312 single base substitution C T intron_variant MELA-AU 6 18442781 18442781 single base substitution A T intron_variant MELA-AU 6 18443688 18443688 single base substitution C T intron_variant MELA-AU 6 18444066 18444067 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 18444143 18444143 single base substitution G A intron_variant MELA-AU 6 18444409 18444409 single base substitution A G intron_variant MELA-AU 6 18444750 18444750 single base substitution C T intron_variant MELA-AU 6 18445420 18445420 single base substitution C T intron_variant MELA-AU 6 18445867 18445883 deletion of <=200bp TATAGTAATATAAAATT - intron_variant MELA-AU 6 18446015 18446015 single base substitution A G intron_variant MELA-AU 6 18446059 18446059 single base substitution G A intron_variant MELA-AU 6 18446792 18446792 single base substitution C T intron_variant MELA-AU 6 18446923 18446923 single base substitution A T intron_variant MELA-AU 6 18447096 18447096 single base substitution G C intron_variant MELA-AU 6 18447239 18447239 single base substitution C T intron_variant MELA-AU 6 18447269 18447269 single base substitution C T intron_variant MELA-AU 6 18447981 18447981 single base substitution C T intron_variant MELA-AU 6 18448840 18448840 single base substitution C T intron_variant MELA-AU 6 18449003 18449003 single base substitution C T intron_variant MELA-AU 6 18449219 18449219 single base substitution C T intron_variant MELA-AU 6 18450441 18450441 single base substitution C T intron_variant MELA-AU 6 18450591 18450591 single base substitution A T intron_variant MELA-AU 6 18450619 18450619 single base substitution C T intron_variant MELA-AU 6 18451199 18451199 single base substitution C T intron_variant MELA-AU 6 18451249 18451249 deletion of <=200bp A - intron_variant MELA-AU 6 18451257 18451257 single base substitution C T intron_variant MELA-AU 6 18451287 18451287 single base substitution A T intron_variant MELA-AU 6 18452224 18452224 single base substitution G A intron_variant MELA-AU 6 18454515 18454515 single base substitution G A intron_variant MELA-AU 6 18454717 18454717 single base substitution C T intron_variant MELA-AU 6 18454873 18454873 single base substitution C T intron_variant MELA-AU 6 18454938 18454938 single base substitution T A intron_variant MELA-AU 6 18454996 18454996 single base substitution C T intron_variant MELA-AU 6 18455166 18455166 single base substitution C T intron_variant MELA-AU 6 18455172 18455172 single base substitution C T intron_variant MELA-AU 6 18455398 18455398 single base substitution G A intron_variant MELA-AU 6 18455782 18455782 single base substitution A G intron_variant MELA-AU 6 18455842 18455842 single base substitution C T intron_variant MELA-AU 6 18456199 18456199 single base substitution G A intron_variant MELA-AU 6 18456479 18456479 single base substitution C T intron_variant MELA-AU 6 18456918 18456918 single base substitution G A intron_variant MELA-AU 6 18458126 18458126 single base substitution G A intron_variant MELA-AU 6 18458394 18458394 single base substitution C T intron_variant MELA-AU 6 18458633 18458633 single base substitution C T intron_variant MELA-AU 6 18459608 18459608 single base substitution A T intron_variant MELA-AU 6 18460071 18460071 single base substitution G A intron_variant MELA-AU 6 18460191 18460191 single base substitution G A intron_variant MELA-AU 6 18460417 18460417 single base substitution G A intron_variant MELA-AU 6 18460991 18460991 single base substitution T C intron_variant MELA-AU 6 18461172 18461172 single base substitution C T intron_variant MELA-AU 6 18463396 18463396 single base substitution C T intron_variant MELA-AU 6 18463440 18463440 single base substitution C T intron_variant MELA-AU 6 18464161 18464161 single base substitution T G intron_variant MELA-AU 6 18464544 18464544 single base substitution A T intron_variant MELA-AU 6 18465574 18465574 single base substitution G A 3_prime_UTR_variant MELA-AU 6 18465574 18465574 single base substitution G A downstream_gene_variant MELA-AU 6 18466114 18466114 single base substitution C T 3_prime_UTR_variant MELA-AU 6 18466114 18466114 single base substitution C T downstream_gene_variant MELA-AU 6 18466763 18466764 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 18466763 18466764 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 18467192 18467192 single base substitution C T 3_prime_UTR_variant MELA-AU 6 18467192 18467192 single base substitution C T downstream_gene_variant MELA-AU 6 18467486 18467486 single base substitution C T 3_prime_UTR_variant MELA-AU 6 18467486 18467486 single base substitution C T downstream_gene_variant MELA-AU 6 18467570 18467570 single base substitution C T 3_prime_UTR_variant MELA-AU 6 18467570 18467570 single base substitution C T downstream_gene_variant MELA-AU 6 18468549 18468549 single base substitution G A 3_prime_UTR_variant MELA-AU 6 18468549 18468549 single base substitution G A downstream_gene_variant MELA-AU 6 18468703 18468704 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 18468703 18468704 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 18470557 18470557 single base substitution C T downstream_gene_variant MELA-AU 6 18471214 18471214 single base substitution C T downstream_gene_variant MELA-AU 6 18471403 18471403 single base substitution C T downstream_gene_variant MELA-AU 6 18471570 18471570 single base substitution C T downstream_gene_variant MELA-AU 6 18471748 18471748 single base substitution G T downstream_gene_variant MELA-AU 6 18472465 18472465 single base substitution C T downstream_gene_variant MELA-AU 6 18473247 18473247 single base substitution C T downstream_gene_variant MELA-AU 6 18473843 18473843 single base substitution C T downstream_gene_variant MELA-AU 6 18473879 18473879 single base substitution C T downstream_gene_variant MELA-AU 6 18473976 18473976 single base substitution C T downstream_gene_variant MELA-AU 6 18474094 18474094 single base substitution C T downstream_gene_variant ORCA-IN 6 18366427 18366427 single base substitution G A upstream_gene_variant ORCA-IN 6 18381351 18381351 single base substitution G C intron_variant ORCA-IN 6 18394120 18394120 single base substitution C G intron_variant ORCA-IN 6 18395155 18395155 single base substitution C T intron_variant ORCA-IN 6 18400601 18400601 single base substitution C T intron_variant ORCA-IN 6 18416370 18416370 single base substitution G C intron_variant ORCA-IN 6 18428718 18428718 single base substitution C G intron_variant ORCA-IN 6 18459026 18459026 single base substitution G A intron_variant ORCA-IN 6 18471242 18471242 single base substitution T A downstream_gene_variant OV-AU 6 18365687 18365687 single base substitution C A upstream_gene_variant OV-AU 6 18366805 18366805 single base substitution G A upstream_gene_variant OV-AU 6 18367953 18367953 single base substitution G A upstream_gene_variant OV-AU 6 18373095 18373095 single base substitution C T intron_variant OV-AU 6 18379575 18379575 single base substitution G T intron_variant OV-AU 6 18380220 18380220 single base substitution G C intron_variant OV-AU 6 18380527 18380527 single base substitution T A intron_variant OV-AU 6 18390868 18390868 single base substitution C G intron_variant OV-AU 6 18396391 18396391 single base substitution G C intron_variant OV-AU 6 18397232 18397232 single base substitution A C intron_variant OV-AU 6 18398821 18398821 single base substitution C T intron_variant OV-AU 6 18402080 18402080 single base substitution C G intron_variant OV-AU 6 18409280 18409280 single base substitution G A intron_variant OV-AU 6 18421571 18421571 single base substitution C G intron_variant OV-AU 6 18431583 18431583 single base substitution A G intron_variant OV-AU 6 18434653 18434653 single base substitution G C intron_variant OV-AU 6 18437162 18437162 single base substitution A G intron_variant OV-AU 6 18459413 18459413 single base substitution T C intron_variant OV-AU 6 18462511 18462511 single base substitution A G intron_variant OV-AU 6 18463654 18463654 single base substitution G A intron_variant OV-AU 6 18465439 18465439 single base substitution C A 3_prime_UTR_variant OV-AU 6 18471606 18471606 single base substitution C A downstream_gene_variant PACA-AU 6 18364399 18364399 single base substitution T G upstream_gene_variant PACA-AU 6 18367939 18367939 single base substitution C T upstream_gene_variant PACA-AU 6 18375418 18375418 single base substitution A G intron_variant PACA-AU 6 18377237 18377237 insertion of <=200bp - TA intron_variant PACA-AU 6 18380143 18380143 single base substitution C G intron_variant PACA-AU 6 18392409 18392409 single base substitution A C intron_variant PACA-AU 6 18396743 18396743 single base substitution C G intron_variant PACA-AU 6 18397822 18397822 single base substitution A G intron_variant PACA-AU 6 18400269 18400269 single base substitution G A intron_variant PACA-AU 6 18400914 18400914 single base substitution A T intron_variant PACA-AU 6 18400987 18400987 single base substitution A T intron_variant PACA-AU 6 18404220 18404220 single base substitution C G downstream_gene_variant PACA-AU 6 18404220 18404220 single base substitution C G intron_variant PACA-AU 6 18408679 18408679 single base substitution T C intron_variant PACA-AU 6 18409541 18409541 single base substitution G A intron_variant PACA-AU 6 18416128 18416128 single base substitution C T intron_variant PACA-AU 6 18416980 18416980 single base substitution G T intron_variant PACA-AU 6 18432608 18432608 single base substitution G A intron_variant PACA-AU 6 18442951 18442951 single base substitution C T intron_variant PACA-AU 6 18444772 18444772 single base substitution A T intron_variant PACA-AU 6 18450177 18450177 single base substitution G C intron_variant PACA-AU 6 18454199 18454199 single base substitution T G intron_variant PACA-AU 6 18454468 18454468 single base substitution C T intron_variant PACA-AU 6 18458326 18458326 single base substitution G A intron_variant PACA-AU 6 18461368 18461368 single base substitution G C intron_variant PACA-AU 6 18465606 18465606 single base substitution A C 3_prime_UTR_variant PACA-AU 6 18465606 18465606 single base substitution A C downstream_gene_variant PACA-AU 6 18470544 18470544 single base substitution T G downstream_gene_variant PACA-CA 6 18373064 18373064 single base substitution C T intron_variant PACA-CA 6 18375782 18375782 single base substitution A T intron_variant PACA-CA 6 18387639 18387639 single base substitution C T 5_prime_UTR_variant PACA-CA 6 18387639 18387639 single base substitution C T intron_variant PACA-CA 6 18387639 18387639 single base substitution C T upstream_gene_variant PACA-CA 6 18388439 18388439 single base substitution C A intron_variant PACA-CA 6 18388624 18388624 single base substitution A G intron_variant PACA-CA 6 18393178 18393178 single base substitution C T intron_variant PACA-CA 6 18397079 18397079 single base substitution T A intron_variant PACA-CA 6 18397692 18397692 single base substitution A T intron_variant PACA-CA 6 18406440 18406440 single base substitution C A downstream_gene_variant PACA-CA 6 18406440 18406440 single base substitution C A intron_variant PACA-CA 6 18408743 18408743 single base substitution C A intron_variant PACA-CA 6 18410145 18410166 deletion of <=200bp TAGGCTTGGTATTCGGGTAAGG - intron_variant PACA-CA 6 18416464 18416464 single base substitution G A intron_variant PACA-CA 6 18421544 18421544 single base substitution C T intron_variant PACA-CA 6 18421546 18421546 single base substitution C T intron_variant PACA-CA 6 18423067 18423067 single base substitution T C intron_variant PACA-CA 6 18423085 18423085 single base substitution A G intron_variant PACA-CA 6 18427710 18427710 insertion of <=200bp - G intron_variant PACA-CA 6 18432884 18432884 single base substitution C T intron_variant PACA-CA 6 18434448 18434448 single base substitution T A intron_variant PACA-CA 6 18440384 18440384 insertion of <=200bp - T intron_variant PACA-CA 6 18443802 18443802 single base substitution T G intron_variant PACA-CA 6 18448710 18448710 single base substitution A G intron_variant PACA-CA 6 18453754 18453754 single base substitution A T intron_variant PACA-CA 6 18454021 18454021 single base substitution G A intron_variant PACA-CA 6 18462470 18462470 single base substitution G A intron_variant PACA-CA 6 18466021 18466021 single base substitution A T 3_prime_UTR_variant PACA-CA 6 18466021 18466021 single base substitution A T downstream_gene_variant PACA-CA 6 18468782 18468782 single base substitution A T 3_prime_UTR_variant PACA-CA 6 18468782 18468782 single base substitution A T downstream_gene_variant PACA-CA 6 18470475 18470475 single base substitution G T downstream_gene_variant PACA-CA 6 18474085 18474085 single base substitution G T downstream_gene_variant PAEN-AU 6 18365165 18365165 single base substitution G A upstream_gene_variant PAEN-AU 6 18367304 18367304 insertion of <=200bp - TTG upstream_gene_variant PAEN-AU 6 18400403 18400403 single base substitution C T intron_variant PAEN-AU 6 18451491 18451491 single base substitution G A intron_variant PAEN-AU 6 18461005 18461005 single base substitution G T intron_variant PAEN-IT 6 18468866 18468866 single base substitution G A 3_prime_UTR_variant PAEN-IT 6 18468866 18468866 single base substitution G A downstream_gene_variant PBCA-DE 6 18368839 18368839 single base substitution G A 5_prime_UTR_variant PBCA-DE 6 18372659 18372659 single base substitution C A intron_variant PBCA-DE 6 18376981 18376981 single base substitution C G intron_variant PBCA-DE 6 18383070 18383070 single base substitution T A intron_variant PBCA-DE 6 18383070 18383070 single base substitution T A upstream_gene_variant PBCA-DE 6 18386476 18386476 single base substitution G A intron_variant PBCA-DE 6 18386476 18386476 single base substitution G A upstream_gene_variant PBCA-DE 6 18392168 18392168 single base substitution G A intron_variant PBCA-DE 6 18395810 18395810 deletion of <=200bp T - intron_variant PBCA-DE 6 18397091 18397091 single base substitution A T intron_variant PBCA-DE 6 18401369 18401369 insertion of <=200bp - TTAATTAAATTAAATTAAAATTGAA intron_variant PBCA-DE 6 18408458 18408458 single base substitution C G intron_variant PBCA-DE 6 18427836 18427836 single base substitution G C intron_variant PBCA-DE 6 18427836 18427836 single base substitution G C missense_variant A64P 190G>C PBCA-DE 6 18434121 18434121 single base substitution C G intron_variant PBCA-DE 6 18435362 18435362 single base substitution T C intron_variant PBCA-DE 6 18443205 18443205 single base substitution T C intron_variant PBCA-DE 6 18445256 18445256 insertion of <=200bp - T intron_variant PBCA-DE 6 18446333 18446333 single base substitution G T intron_variant PBCA-DE 6 18449929 18449929 insertion of <=200bp - TATATATATA intron_variant PBCA-DE 6 18464189 18464189 single base substitution C G intron_variant PBCA-DE 6 18467867 18467867 single base substitution G A 3_prime_UTR_variant PBCA-DE 6 18467867 18467867 single base substitution G A downstream_gene_variant PBCA-DE 6 18468806 18468806 deletion of <=200bp T - 3_prime_UTR_variant PBCA-DE 6 18468806 18468806 deletion of <=200bp T - downstream_gene_variant PBCA-DE 6 18473846 18473846 single base substitution T A downstream_gene_variant PBCA-DE 6 18473853 18473853 single base substitution C A downstream_gene_variant PRAD-CA 6 18438184 18438184 single base substitution C T intron_variant PRAD-CA 6 18448947 18448947 single base substitution A C intron_variant PRAD-CA 6 18469031 18469031 single base substitution A G 3_prime_UTR_variant PRAD-CA 6 18469031 18469031 single base substitution A G downstream_gene_variant PRAD-UK 6 18380519 18380519 insertion of <=200bp - G intron_variant PRAD-UK 6 18391602 18391602 single base substitution C T intron_variant PRAD-UK 6 18410970 18410971 deletion of <=200bp AT - intron_variant PRAD-UK 6 18422882 18422882 single base substitution T G intron_variant PRAD-UK 6 18424455 18424455 single base substitution A T intron_variant PRAD-UK 6 18434673 18434673 single base substitution G A intron_variant PRAD-UK 6 18434756 18434756 single base substitution C G intron_variant PRAD-UK 6 18438598 18438598 insertion of <=200bp - T intron_variant PRAD-UK 6 18440050 18440050 single base substitution G A intron_variant PRAD-UK 6 18442623 18442623 single base substitution G T intron_variant PRAD-UK 6 18453600 18453600 single base substitution C A intron_variant PRAD-UK 6 18453753 18453753 single base substitution T A intron_variant PRAD-UK 6 18454128 18454128 single base substitution G A intron_variant RECA-EU 6 18373166 18373166 single base substitution C T intron_variant RECA-EU 6 18376428 18376428 single base substitution T C intron_variant RECA-EU 6 18382576 18382576 single base substitution T G intron_variant RECA-EU 6 18382581 18382581 single base substitution T G intron_variant RECA-EU 6 18382581 18382581 single base substitution T G upstream_gene_variant RECA-EU 6 18383014 18383014 single base substitution T A intron_variant RECA-EU 6 18383014 18383014 single base substitution T A upstream_gene_variant RECA-EU 6 18388006 18388006 single base substitution A G intron_variant RECA-EU 6 18443801 18443801 single base substitution A C intron_variant RECA-EU 6 18444339 18444339 single base substitution G T intron_variant RECA-EU 6 18448302 18448302 single base substitution T A intron_variant RECA-EU 6 18455623 18455623 single base substitution T G intron_variant SKCA-BR 6 18365782 18365782 single base substitution G A upstream_gene_variant SKCA-BR 6 18367051 18367051 single base substitution C A upstream_gene_variant SKCA-BR 6 18368337 18368337 single base substitution C T upstream_gene_variant SKCA-BR 6 18371898 18371898 single base substitution G A intron_variant SKCA-BR 6 18372954 18372954 single base substitution C T intron_variant SKCA-BR 6 18374421 18374421 single base substitution A G intron_variant SKCA-BR 6 18374608 18374608 single base substitution T C intron_variant SKCA-BR 6 18377318 18377318 insertion of <=200bp - TATATAC intron_variant SKCA-BR 6 18379677 18379677 single base substitution C T intron_variant SKCA-BR 6 18380130 18380130 single base substitution T G intron_variant SKCA-BR 6 18381141 18381141 single base substitution G A intron_variant SKCA-BR 6 18381480 18381480 single base substitution C T intron_variant SKCA-BR 6 18381600 18381600 single base substitution A T intron_variant SKCA-BR 6 18382009 18382009 single base substitution G A intron_variant SKCA-BR 6 18382580 18382581 deletion of <=200bp AT - intron_variant SKCA-BR 6 18382580 18382581 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 6 18383506 18383506 single base substitution C T intron_variant SKCA-BR 6 18383506 18383506 single base substitution C T upstream_gene_variant SKCA-BR 6 18383642 18383642 single base substitution C T intron_variant SKCA-BR 6 18383642 18383642 single base substitution C T upstream_gene_variant SKCA-BR 6 18384354 18384354 single base substitution T C intron_variant SKCA-BR 6 18384354 18384354 single base substitution T C upstream_gene_variant SKCA-BR 6 18385257 18385257 single base substitution C T intron_variant SKCA-BR 6 18385257 18385257 single base substitution C T upstream_gene_variant SKCA-BR 6 18385390 18385390 single base substitution C T intron_variant SKCA-BR 6 18385390 18385390 single base substitution C T upstream_gene_variant SKCA-BR 6 18385864 18385864 single base substitution T C intron_variant SKCA-BR 6 18385864 18385864 single base substitution T C upstream_gene_variant SKCA-BR 6 18386101 18386101 insertion of <=200bp - AT intron_variant SKCA-BR 6 18386101 18386101 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 6 18386762 18386762 single base substitution G A intron_variant SKCA-BR 6 18386762 18386762 single base substitution G A upstream_gene_variant SKCA-BR 6 18394844 18394845 deletion of <=200bp GA - intron_variant SKCA-BR 6 18397130 18397130 single base substitution C T intron_variant SKCA-BR 6 18397182 18397182 single base substitution T G intron_variant SKCA-BR 6 18405381 18405381 insertion of <=200bp - TTTATTATTATTA downstream_gene_variant SKCA-BR 6 18405381 18405381 insertion of <=200bp - TTTATTATTATTA intron_variant SKCA-BR 6 18405408 18405408 single base substitution G A downstream_gene_variant SKCA-BR 6 18405408 18405408 single base substitution G A intron_variant SKCA-BR 6 18407662 18407662 single base substitution A T intron_variant SKCA-BR 6 18408205 18408205 single base substitution C T intron_variant SKCA-BR 6 18409633 18409633 single base substitution A G intron_variant SKCA-BR 6 18415726 18415726 single base substitution C T intron_variant SKCA-BR 6 18417397 18417397 single base substitution C T intron_variant SKCA-BR 6 18420983 18420983 single base substitution C T intron_variant SKCA-BR 6 18423997 18423997 insertion of <=200bp - CT intron_variant SKCA-BR 6 18425287 18425289 deletion of <=200bp GGT - intron_variant SKCA-BR 6 18426975 18427007 deletion of <=200bp CTTTTTTCTATTCAATGTCTTCTCTGGGTTTCA - intron_variant SKCA-BR 6 18427023 18427023 single base substitution G T intron_variant SKCA-BR 6 18427038 18427039 deletion of <=200bp CA - intron_variant SKCA-BR 6 18429055 18429055 single base substitution C T intron_variant SKCA-BR 6 18429440 18429440 single base substitution G T intron_variant SKCA-BR 6 18430587 18430587 single base substitution T C intron_variant SKCA-BR 6 18437306 18437306 single base substitution T G intron_variant SKCA-BR 6 18441026 18441026 insertion of <=200bp - GT intron_variant SKCA-BR 6 18441343 18441343 single base substitution C T intron_variant SKCA-BR 6 18441983 18441983 single base substitution G C intron_variant SKCA-BR 6 18446070 18446070 single base substitution C T intron_variant SKCA-BR 6 18446376 18446376 single base substitution G A intron_variant SKCA-BR 6 18449242 18449242 single base substitution C T intron_variant SKCA-BR 6 18450535 18450535 insertion of <=200bp - GTT intron_variant SKCA-BR 6 18451493 18451493 single base substitution C T intron_variant SKCA-BR 6 18456351 18456351 single base substitution C G intron_variant SKCA-BR 6 18457549 18457549 single base substitution C T synonymous_variant S165S 495C>T SKCA-BR 6 18457549 18457549 single base substitution C T synonymous_variant S76S 228C>T SKCA-BR 6 18463287 18463287 insertion of <=200bp - CT intron_variant SKCA-BR 6 18464604 18464604 single base substitution C T intron_variant SKCA-BR 6 18468114 18468114 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 18468114 18468114 single base substitution C T downstream_gene_variant SKCA-BR 6 18469625 18469625 single base substitution T G downstream_gene_variant SKCM-US 6 18463533 18463533 single base substitution C T synonymous_variant F142F 426C>T SKCM-US 6 18463533 18463533 single base substitution C T synonymous_variant F231F 693C>T STAD-US 6 18399839 18399839 insertion of <=200bp - C exon_variant STAD-US 6 18399839 18399839 insertion of <=200bp - C frameshift_variant A25A? STAD-US 6 18399839 18399839 insertion of <=200bp - C intron_variant STAD-US 6 18465249 18465249 single base substitution G A missense_variant C199Y 596G>A STAD-US 6 18465249 18465249 single base substitution G A missense_variant C288Y 863G>A THCA-SA 6 18387692 18387692 single base substitution A G 5_prime_UTR_variant THCA-SA 6 18387692 18387692 single base substitution A G intron_variant THCA-SA 6 18387692 18387692 single base substitution A G upstream_gene_variant THCA-SA 6 18465867 18465867 single base substitution G A 3_prime_UTR_variant THCA-SA 6 18465867 18465867 single base substitution G A downstream_gene_variant THCA-SA 6 18466104 18466104 single base substitution G A 3_prime_UTR_variant THCA-SA 6 18466104 18466104 single base substitution G A downstream_gene_variant THCA-SA 6 18468407 18468407 single base substitution T C 3_prime_UTR_variant THCA-SA 6 18468407 18468407 single base substitution T C downstream_gene_variant UCEC-US 6 18439969 18439969 single base substitution G A intron_variant UCEC-US 6 18439969 18439969 single base substitution G A missense_variant E109K 325G>A UCEC-US 6 18457581 18457581 single base substitution C T missense_variant T176I 527C>T UCEC-US 6 18457581 18457581 single base substitution C T missense_variant T87I 260C>T UCEC-US 6 18465259 18465259 single base substitution T A stop_gained C202* 606T>A UCEC-US 6 18465259 18465259 single base substitution T A stop_gained C291* 873T>A UCEC-US 6 18465268 18465268 single base substitution G A synonymous_variant K205K 615G>A UCEC-US 6 18465268 18465268 single base substitution G A synonymous_variant K294K 882G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-UB-A7MB-01 COSM4932389 c.799A>G p.I267V Substitution - Missense 6:18464954-18464954 + TCGA-AP-A051-01 COSM1076400 c.873T>A p.C291* Substitution - Nonsense 6:18465028-18465028 + B89-4-Tumor COSM1754666 c.839C>T p.S280F Substitution - Missense 6:18464994-18464994 + TCGA-D1-A103-01 COSM1076401 c.882G>A p.K294K Substitution - coding silent 6:18465037-18465037 + YUKLAB COSM1696956 c.481C>T p.H161Y Substitution - Missense 6:18457304-18457304 + 585210 COSM326378 c.385G>T p.V129L Substitution - Missense 6:18457208-18457208 + TCGA-BS-A0TA-01 COSM1076397 c.143G>A p.C48Y Substitution - Missense 6:18399677-18399677 + TCGA-A8-A0A6-01 COSM3829748 c.446A>C p.H149P Substitution - Missense 6:18457269-18457269 + BD189T COSM5508334 c.577T>G p.C193G Substitution - Missense 6:18459647-18459647 + CSCC-29-T COSM4447037 c.772-4_772-3CC>TT p.? Unknown 6:18464923-18464924 + XPA23PT COSM314839 c.619G>A p.A207T Substitution - Missense 6:18459689-18459689 + S00050 COSM317985 c.859G>T p.V287F Substitution - Missense 6:18465014-18465014 + PAPAGK COSM5004237 c.896A>C p.D299A Substitution - Missense 6:18465051-18465051 + HCC086T COSM5813128 c.797G>T p.G266V Substitution - Missense 6:18464952-18464952 + PT48 COSM5931889 c.61G>A p.D21N Substitution - Missense 6:18399595-18399595 + CHEWS027 COSM4586499 c.893A>G p.H298R Substitution - Missense 6:18465048-18465048 + CHOL48 COSM1744277 c.71C>T p.P24L Substitution - Missense 6:18399605-18399605 + ESO-2143 COSM1264344 c.301C>G p.Q101E Substitution - Missense 6:18439714-18439714 + TCGA-EE-A181-06 COSM3623137 c.693C>T p.F231F Substitution - coding silent 6:18463302-18463302 + 36 COSM3735882 c.364C>T p.P122S Substitution - Missense 6:18457187-18457187 + MOLT-4 COSM1672260 c.715C>T p.P239S Substitution - Missense 6:18463324-18463324 + TCGA-AP-A0LP-01 COSM1076399 c.527C>T p.T176I Substitution - Missense 6:18457350-18457350 + TCGA-A8-A09Z-01 COSM5202439 c.44delA p.N16fs*27 Deletion - Frameshift 6:18399578-18399578 + LS174T COSM2856325 c.605G>A p.R202H Substitution - Missense 6:18459675-18459675 + S00050 COSM317985 c.859G>T p.V287F Substitution - Missense 6:18465014-18465014 + LIM2551 COSM4644724 c.661T>C p.Y221H Substitution - Missense 6:18459731-18459731 + HCC163T COSM3662302 c.720C>T p.C240C Substitution - coding silent 6:18463329-18463329 + CSCC-27-T COSM4507898 c.75C>T p.A25A Substitution - coding silent 6:18399609-18399609 + HCC163 COSM3662302 c.720C>T p.C240C Substitution - coding silent 6:18463329-18463329 + LS180 COSM2856325 c.605G>A p.R202H Substitution - Missense 6:18459675-18459675 + YUOTHO COSM5404879 c.360G>T p.W120C Substitution - Missense 6:18457183-18457183 + S00936 COSM314839 c.619G>A p.A207T Substitution - Missense 6:18459689-18459689 + BD236T COSM5518644 c.646C>T p.H216Y Substitution - Missense 6:18459716-18459716 + 504 COSM5611868 c.558A>T p.A186A Substitution - coding silent 6:18459628-18459628 + 587358 COSM1223907 c.751G>T p.V251L Substitution - Missense 6:18463360-18463360 + TCGA-CZ-5462-01 COSM483723 c.344A>G p.D115G Substitution - Missense 6:18457167-18457167 + RK308_C01 COSM3745074 c.186G>A p.Q62Q Substitution - coding silent 6:18427601-18427601 + B89-4 COSM1754666 c.839C>T p.S280F Substitution - Missense 6:18464994-18464994 + 46M COSM5588821 c.49C>T p.P17S Substitution - Missense 6:18399583-18399583 + TCGA-EY-A1GS-01 COSM1076398 c.325G>A p.E109K Substitution - Missense 6:18439738-18439738 + TCGA-BR-6452-01 COSM3860679 c.863G>A p.C288Y Substitution - Missense 6:18465018-18465018 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.148721;Hs.148741 6p22.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.909+2407A>G 6 18467702 HC A G Missense p.H149R c.446A>G 6 18457500 LUAD C - Frameshift p.L27Sfs*16 c.79delC 6 18399839 LUAD C G Missense p.Q101E c.301C>G 6 18439945 ESCA C T Missense p.T176I c.527C>T 6 18457581 UCEC C T Synonymous p.F231F c.693C>T 6 18463533 CM G A 3-UTRSNV . c.909+2572G>A 6 18467867 MB G A Missense p.A207T c.619G>A 6 18459920 SCLC G A Missense p.C148Y c.443G>A 6 18457497 COREAD G A Missense p.E109K c.325G>A 6 18439969 UCEC G C Missense p.C53S c.158G>C 6 18399923 LUAD G T 3-UTRSNV . c.909+2356G>T 6 18467651 HC G T Missense p.R6M c.17G>T 6 18399782 COREAD G T Missense p.V129L c.385G>T 6 18457439 SCLC G T Missense p.V287F c.859G>T 6 18465245 SCLC G T Missense p.W160C c.480G>T 6 18457534 LUAD