Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 23 118708871 118708871 + Nonsense_Mutation SNP G G T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chrX:118708871G>T c.52G>T c.(52-54)Gag>Tag p.E18* BLCA 23 118708895 118708895 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chrX:118708895G>A c.76G>A c.(76-78)Ggg>Agg p.G26R BRCA 23 118715485 118715485 + Frame_Shift_Del DEL C C - TCGA-B6-A0WV-01A-11D-A10G-09 TCGA-B6-A0WV-10A-01D-A10G-09 g.chrX:118715485delC c.167delC c.(166-168)acafs p.T56fs BRCA 23 118717178 118717178 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 g.chrX:118717178G>T c.419G>T c.(418-420)cGt>cTt p.R140L COAD 23 118715490 118715490 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:118715490G>T c.172G>T c.(172-174)Gaa>Taa p.E58* COAD 23 118715495 118715495 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:118715495C>A c.177C>A c.(175-177)ttC>ttA p.F59L COAD 23 118717115 118717115 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:118717115A>C c.356A>C c.(355-357)aAt>aCt p.N119T COAD 23 118717177 118717177 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:118717177C>T c.418C>T c.(418-420)Cgt>Tgt p.R140C COADREAD 23 118715490 118715490 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:118715490G>T c.172G>T c.(172-174)Gaa>Taa p.E58* COADREAD 23 118715495 118715495 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:118715495C>A c.177C>A c.(175-177)ttC>ttA p.F59L COADREAD 23 118716593 118716593 + Missense_Mutation SNP G G A TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chrX:118716593G>A c.284G>A c.(283-285)cGt>cAt p.R95H COADREAD 23 118717115 118717115 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:118717115A>C c.356A>C c.(355-357)aAt>aCt p.N119T COADREAD 23 118717177 118717177 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:118717177C>T c.418C>T c.(418-420)Cgt>Tgt p.R140C DLBC 23 118708862 118708862 + Splice_Site SNP A A C TCGA-VB-A8QN-01A-11D-A382-10 TCGA-VB-A8QN-10A-01D-A385-10 g.chrX:118708862A>C c.e2-1 DLBC 23 118708868 118708868 + Nonsense_Mutation SNP C C T TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chrX:118708868C>T c.49C>T c.(49-51)Cag>Tag p.Q17* DLBC 23 118715490 118715490 + Nonsense_Mutation SNP G G T TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chrX:118715490G>T c.172G>T c.(172-174)Gaa>Taa p.E58* DLBC 23 118717088 118717088 + Splice_Site SNP A A C TCGA-RQ-AAAT-01A-11D-A38X-10 TCGA-RQ-AAAT-10A-01D-A38X-10 g.chrX:118717088A>C c.e6-1 KIPAN 23 118715555 118715560 + Splice_Site DEL AAATGG AAATGG - TCGA-CZ-5984-01A-11D-1669-08 TCGA-CZ-5984-11A-01D-1669-08 g.chrX:118715555_118715560delAAATGG c.237_241delAAATGG c.(235-243)ccaaatggt>ccgt p.NG80del KIPAN 23 118716565 118716565 + Missense_Mutation SNP A A G TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chrX:118716565A>G c.256A>G c.(256-258)Agt>Ggt p.S86G KIRC 23 118715555 118715560 + Splice_Site DEL AAATGG AAATGG - TCGA-CZ-5984-01A-11D-1669-08 TCGA-CZ-5984-11A-01D-1669-08 g.chrX:118715555_118715560delAAATGG c.237_241delAAATGG c.(235-243)ccaaatggt>ccgt p.NG80del KIRC 23 118716565 118716565 + Missense_Mutation SNP A A G TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chrX:118716565A>G c.256A>G c.(256-258)Agt>Ggt p.S86G LUAD 23 118708684 118708684 + Missense_Mutation SNP C C A TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chrX:118708684C>A c.10C>A c.(10-12)Ccg>Acg p.P4T LUAD 23 118708873 118708873 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chrX:118708873G>T c.54G>T c.(52-54)gaG>gaT p.E18D LUAD 23 118708874 118708874 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chrX:118708874G>T c.55G>T c.(55-57)Gat>Tat p.D19Y LUAD 23 118708880 118708880 + Missense_Mutation SNP C C T TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chrX:118708880C>T c.61C>T c.(61-63)Cca>Tca p.P21S LUAD 23 118709339 118709339 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chrX:118709339C>A c.127C>A c.(127-129)Cct>Act p.P43T LUAD 23 118717129 118717129 + Missense_Mutation SNP A A T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:118717129A>T c.370A>T c.(370-372)Agc>Tgc p.S124C LUAD 23 118717138 118717138 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chrX:118717138G>T c.379G>T c.(379-381)Gct>Tct p.A127S LUAD 23 118717179 118717179 + Silent SNP T T A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:118717179T>A c.420T>A c.(418-420)cgT>cgA p.R140R LUSC 23 118708716 118708716 + Missense_Mutation SNP G G T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chrX:118708716G>T c.42G>T c.(40-42)aaG>aaT p.K14N LUSC 23 118717208 118717208 + Missense_Mutation SNP G G T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 g.chrX:118717208G>T c.449G>T c.(448-450)cGt>cTt p.R150L READ 23 118716593 118716593 + Missense_Mutation SNP G G A TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chrX:118716593G>A c.284G>A c.(283-285)cGt>cAt p.R95H SKCM 23 118708942 118708942 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chrX:118708942C>T c.123C>T c.(121-123)ttC>ttT p.F41F SKCM 23 118709340 118709340 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chrX:118709340C>T c.128C>T c.(127-129)cCt>cTt p.P43L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 118708895 118708895 single base substitution G A exon_variant BLCA-US X 118708895 118708895 single base substitution G A missense_variant G26R 76G>A BLCA-US X 118723319 118723319 single base substitution T C downstream_gene_variant BOCA-FR X 118708369 118708369 single base substitution G T upstream_gene_variant BRCA-EU X 118703626 118703626 single base substitution G A upstream_gene_variant BRCA-EU X 118704224 118704224 insertion of <=200bp - T upstream_gene_variant BRCA-EU X 118704929 118704929 single base substitution C T upstream_gene_variant BRCA-EU X 118705835 118705835 single base substitution T A upstream_gene_variant BRCA-EU X 118706423 118706423 single base substitution A G upstream_gene_variant BRCA-EU X 118707739 118707739 single base substitution G A upstream_gene_variant BRCA-EU X 118707929 118707929 single base substitution C G upstream_gene_variant BRCA-EU X 118708280 118708280 single base substitution G T upstream_gene_variant BRCA-EU X 118708545 118708545 single base substitution G T 5_prime_UTR_variant BRCA-EU X 118708545 118708545 single base substitution G T upstream_gene_variant BRCA-EU X 118709925 118709925 single base substitution T C downstream_gene_variant BRCA-EU X 118709925 118709925 single base substitution T C intron_variant BRCA-EU X 118709925 118709925 single base substitution T C upstream_gene_variant BRCA-EU X 118710399 118710399 single base substitution A T downstream_gene_variant BRCA-EU X 118710399 118710399 single base substitution A T intron_variant BRCA-EU X 118710399 118710399 single base substitution A T upstream_gene_variant BRCA-EU X 118710726 118710726 single base substitution T A downstream_gene_variant BRCA-EU X 118710726 118710726 single base substitution T A intron_variant BRCA-EU X 118710726 118710726 single base substitution T A upstream_gene_variant BRCA-EU X 118712709 118712709 single base substitution T A downstream_gene_variant BRCA-EU X 118712709 118712709 single base substitution T A intron_variant BRCA-EU X 118712709 118712709 single base substitution T A upstream_gene_variant BRCA-EU X 118712919 118712919 single base substitution C G downstream_gene_variant BRCA-EU X 118712919 118712919 single base substitution C G intron_variant BRCA-EU X 118712919 118712919 single base substitution C G upstream_gene_variant BRCA-EU X 118713140 118713140 single base substitution G T downstream_gene_variant BRCA-EU X 118713140 118713140 single base substitution G T intron_variant BRCA-EU X 118713140 118713140 single base substitution G T upstream_gene_variant BRCA-EU X 118716566 118716566 single base substitution G A missense_variant S11N 32G>A BRCA-EU X 118716566 118716566 single base substitution G A missense_variant S56N 167G>A BRCA-EU X 118716566 118716566 single base substitution G A missense_variant S86N 257G>A BRCA-EU X 118716885 118716885 single base substitution G A intron_variant BRCA-EU X 118717902 118717902 single base substitution G A 3_prime_UTR_variant BRCA-EU X 118717902 118717902 single base substitution G A downstream_gene_variant BRCA-EU X 118717982 118717982 single base substitution C T 3_prime_UTR_variant BRCA-EU X 118717982 118717982 single base substitution C T downstream_gene_variant BRCA-EU X 118718332 118718332 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU X 118718332 118718332 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 118718554 118718554 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 118719234 118719234 single base substitution C T downstream_gene_variant BRCA-EU X 118719996 118719996 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 118720771 118720771 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 118721292 118721292 single base substitution G A downstream_gene_variant BRCA-EU X 118721355 118721355 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 118722129 118722129 single base substitution G A downstream_gene_variant BRCA-EU X 118722993 118722993 single base substitution G T downstream_gene_variant BRCA-FR X 118719234 118719234 single base substitution C T downstream_gene_variant BRCA-FR X 118721292 118721292 single base substitution G A downstream_gene_variant BRCA-UK X 118704532 118704532 single base substitution C G upstream_gene_variant BRCA-UK X 118704733 118704733 single base substitution C G upstream_gene_variant BRCA-US X 118715485 118715485 deletion of <=200bp C - 5_prime_UTR_variant BRCA-US X 118715485 118715485 deletion of <=200bp C - frameshift_variant T56 BRCA-US X 118715485 118715485 deletion of <=200bp C - intron_variant BRCA-US X 118717178 118717178 single base substitution G T missense_variant R110L 329G>T BRCA-US X 118717178 118717178 single base substitution G T missense_variant R140L 419G>T BRCA-US X 118717178 118717178 single base substitution G T missense_variant R65L 194G>T BTCA-JP X 118708955 118708955 single base substitution G T intron_variant CLLE-ES X 118722750 118722750 single base substitution A G downstream_gene_variant COAD-US X 118717177 118717177 single base substitution C T missense_variant R110C 328C>T COAD-US X 118717177 118717177 single base substitution C T missense_variant R140C 418C>T COAD-US X 118717177 118717177 single base substitution C T missense_variant R65C 193C>T COCA-CN X 118708942 118708942 single base substitution C T splice_region_variant EOPC-DE X 118713821 118713821 single base substitution T C downstream_gene_variant EOPC-DE X 118713821 118713821 single base substitution T C intron_variant EOPC-DE X 118713821 118713821 single base substitution T C upstream_gene_variant KIRC-US X 118715555 118715560 deletion of <=200bp AAATGG - frameshift_variant PNV4 KIRC-US X 118715555 118715560 deletion of <=200bp AAATGG - frameshift_variant PNV79 KIRC-US X 118715555 118715560 deletion of <=200bp AAATGG - intron_variant KIRC-US X 118716565 118716565 single base substitution A G missense_variant S11G 31A>G KIRC-US X 118716565 118716565 single base substitution A G missense_variant S56G 166A>G KIRC-US X 118716565 118716565 single base substitution A G missense_variant S86G 256A>G LICA-FR X 118713993 118713993 single base substitution G A downstream_gene_variant LICA-FR X 118713993 118713993 single base substitution G A intron_variant LICA-FR X 118713993 118713993 single base substitution G A upstream_gene_variant LINC-JP X 118720831 118720831 single base substitution C A downstream_gene_variant LIRI-JP X 118705921 118705921 single base substitution T C upstream_gene_variant LIRI-JP X 118710200 118710200 single base substitution T C downstream_gene_variant LIRI-JP X 118710200 118710200 single base substitution T C intron_variant LIRI-JP X 118710200 118710200 single base substitution T C upstream_gene_variant LIRI-JP X 118711339 118711339 single base substitution G T downstream_gene_variant LIRI-JP X 118711339 118711339 single base substitution G T intron_variant LIRI-JP X 118711339 118711339 single base substitution G T upstream_gene_variant LIRI-JP X 118712487 118712487 single base substitution G C downstream_gene_variant LIRI-JP X 118712487 118712487 single base substitution G C intron_variant LIRI-JP X 118712487 118712487 single base substitution G C upstream_gene_variant LIRI-JP X 118713804 118713804 single base substitution T G downstream_gene_variant LIRI-JP X 118713804 118713804 single base substitution T G intron_variant LIRI-JP X 118713804 118713804 single base substitution T G upstream_gene_variant LIRI-JP X 118716831 118716831 single base substitution T A intron_variant LIRI-JP X 118717011 118717011 single base substitution C T intron_variant LIRI-JP X 118717158 118717158 single base substitution C A missense_variant N103K 309C>A LIRI-JP X 118717158 118717158 single base substitution C A missense_variant N133K 399C>A LIRI-JP X 118717158 118717158 single base substitution C A missense_variant N58K 174C>A LIRI-JP X 118717714 118717714 single base substitution G T 3_prime_UTR_variant LIRI-JP X 118717714 118717714 single base substitution G T downstream_gene_variant LIRI-JP X 118718860 118718860 single base substitution A G downstream_gene_variant LIRI-JP X 118718941 118718941 single base substitution A G downstream_gene_variant LIRI-JP X 118720718 118720718 single base substitution C T downstream_gene_variant LUSC-KR X 118703809 118703809 single base substitution C A upstream_gene_variant LUSC-KR X 118709454 118709454 single base substitution A C exon_variant LUSC-KR X 118709454 118709454 single base substitution A C intron_variant LUSC-KR X 118709454 118709454 single base substitution A C upstream_gene_variant LUSC-KR X 118710965 118710965 single base substitution C T downstream_gene_variant LUSC-KR X 118710965 118710965 single base substitution C T intron_variant LUSC-KR X 118710965 118710965 single base substitution C T upstream_gene_variant LUSC-KR X 118712641 118712641 single base substitution C G downstream_gene_variant LUSC-KR X 118712641 118712641 single base substitution C G intron_variant LUSC-KR X 118712641 118712641 single base substitution C G upstream_gene_variant LUSC-KR X 118713351 118713351 single base substitution A G downstream_gene_variant LUSC-KR X 118713351 118713351 single base substitution A G intron_variant LUSC-KR X 118713351 118713351 single base substitution A G upstream_gene_variant LUSC-US X 118708716 118708716 single base substitution G T missense_variant K14N 42G>T LUSC-US X 118708716 118708716 single base substitution G T splice_region_variant LUSC-US X 118717208 118717208 single base substitution G T missense_variant R120L 359G>T LUSC-US X 118717208 118717208 single base substitution G T missense_variant R150L 449G>T LUSC-US X 118717208 118717208 single base substitution G T missense_variant R75L 224G>T MALY-DE X 118708927 118708927 single base substitution G C exon_variant MALY-DE X 118708927 118708927 single base substitution G C missense_variant W36C 108G>C MALY-DE X 118710468 118710469 deletion of <=200bp AC - downstream_gene_variant MALY-DE X 118710468 118710469 deletion of <=200bp AC - intron_variant MALY-DE X 118710468 118710469 deletion of <=200bp AC - upstream_gene_variant MALY-DE X 118712809 118712809 single base substitution C G downstream_gene_variant MALY-DE X 118712809 118712809 single base substitution C G intron_variant MALY-DE X 118712809 118712809 single base substitution C G upstream_gene_variant MALY-DE X 118714558 118714558 single base substitution A G 5_prime_UTR_variant MALY-DE X 118714558 118714558 single base substitution A G downstream_gene_variant MALY-DE X 118714558 118714558 single base substitution A G intron_variant MELA-AU X 118703749 118703749 single base substitution C T upstream_gene_variant MELA-AU X 118704364 118704364 single base substitution G A upstream_gene_variant MELA-AU X 118704790 118704790 single base substitution C T upstream_gene_variant MELA-AU X 118704895 118704895 single base substitution C T upstream_gene_variant MELA-AU X 118705322 118705322 single base substitution A G upstream_gene_variant MELA-AU X 118706790 118706790 single base substitution T A upstream_gene_variant MELA-AU X 118707445 118707446 multiple base substitution (>=2bp and <=200bp) AA CC upstream_gene_variant MELA-AU X 118709109 118709109 single base substitution C T intron_variant MELA-AU X 118709319 118709319 single base substitution A G intron_variant MELA-AU X 118709319 118709319 single base substitution A G upstream_gene_variant MELA-AU X 118709689 118709689 single base substitution A G downstream_gene_variant MELA-AU X 118709689 118709689 single base substitution A G intron_variant MELA-AU X 118709689 118709689 single base substitution A G upstream_gene_variant MELA-AU X 118710350 118710350 single base substitution G A downstream_gene_variant MELA-AU X 118710350 118710350 single base substitution G A intron_variant MELA-AU X 118710350 118710350 single base substitution G A upstream_gene_variant MELA-AU X 118711094 118711094 single base substitution G A downstream_gene_variant MELA-AU X 118711094 118711094 single base substitution G A intron_variant MELA-AU X 118711094 118711094 single base substitution G A upstream_gene_variant MELA-AU X 118711278 118711278 single base substitution C T downstream_gene_variant MELA-AU X 118711278 118711278 single base substitution C T intron_variant MELA-AU X 118711278 118711278 single base substitution C T upstream_gene_variant MELA-AU X 118712427 118712427 single base substitution C T downstream_gene_variant MELA-AU X 118712427 118712427 single base substitution C T intron_variant MELA-AU X 118712427 118712427 single base substitution C T upstream_gene_variant MELA-AU X 118712512 118712512 single base substitution C T downstream_gene_variant MELA-AU X 118712512 118712512 single base substitution C T intron_variant MELA-AU X 118712512 118712512 single base substitution C T upstream_gene_variant MELA-AU X 118714996 118714996 single base substitution C T 5_prime_UTR_variant MELA-AU X 118714996 118714996 single base substitution C T intron_variant MELA-AU X 118715219 118715219 single base substitution C T 5_prime_UTR_variant MELA-AU X 118715219 118715219 single base substitution C T intron_variant MELA-AU X 118715430 118715430 single base substitution G A 5_prime_UTR_variant MELA-AU X 118715430 118715430 single base substitution G A intron_variant MELA-AU X 118716288 118716288 single base substitution C T intron_variant MELA-AU X 118716642 118716642 single base substitution G A splice_region_variant MELA-AU X 118717623 118717623 single base substitution C T 3_prime_UTR_variant MELA-AU X 118717623 118717623 single base substitution C T downstream_gene_variant MELA-AU X 118718274 118718274 single base substitution T A 3_prime_UTR_variant MELA-AU X 118718274 118718274 single base substitution T A downstream_gene_variant MELA-AU X 118720168 118720168 single base substitution C T downstream_gene_variant MELA-AU X 118720170 118720170 single base substitution T C downstream_gene_variant MELA-AU X 118720337 118720337 single base substitution G A downstream_gene_variant MELA-AU X 118720342 118720342 single base substitution C A downstream_gene_variant MELA-AU X 118720444 118720444 single base substitution G A downstream_gene_variant MELA-AU X 118720950 118720950 single base substitution C T downstream_gene_variant MELA-AU X 118721951 118721951 single base substitution G A downstream_gene_variant MELA-AU X 118722467 118722467 single base substitution C T downstream_gene_variant MELA-AU X 118722747 118722747 single base substitution C T downstream_gene_variant MELA-AU X 118723245 118723245 single base substitution G A downstream_gene_variant OV-AU X 118714748 118714748 single base substitution G C 5_prime_UTR_variant OV-AU X 118714748 118714748 single base substitution G C intron_variant OV-AU X 118717833 118717833 single base substitution A T 3_prime_UTR_variant OV-AU X 118717833 118717833 single base substitution A T downstream_gene_variant OV-AU X 118722292 118722292 single base substitution C T downstream_gene_variant PACA-AU X 118704687 118704687 single base substitution T G upstream_gene_variant PACA-AU X 118720937 118720937 single base substitution A C downstream_gene_variant PACA-AU X 118721476 118721476 single base substitution C T downstream_gene_variant PACA-AU X 118722556 118722556 single base substitution G A downstream_gene_variant PACA-CA X 118704610 118704610 single base substitution C A upstream_gene_variant PACA-CA X 118704691 118704691 deletion of <=200bp G - upstream_gene_variant PACA-CA X 118705343 118705343 single base substitution G A upstream_gene_variant PACA-CA X 118706899 118706899 single base substitution C A upstream_gene_variant PACA-CA X 118708627 118708627 single base substitution G A 5_prime_UTR_variant PACA-CA X 118708627 118708627 single base substitution G A upstream_gene_variant PACA-CA X 118708857 118708857 deletion of <=200bp C - splice_region_variant PACA-CA X 118709016 118709016 single base substitution G A intron_variant PACA-CA X 118711324 118711324 single base substitution C T downstream_gene_variant PACA-CA X 118711324 118711324 single base substitution C T intron_variant PACA-CA X 118711324 118711324 single base substitution C T upstream_gene_variant PACA-CA X 118722670 118722670 single base substitution C G downstream_gene_variant PAEN-AU X 118711179 118711179 single base substitution C G downstream_gene_variant PAEN-AU X 118711179 118711179 single base substitution C G intron_variant PAEN-AU X 118711179 118711179 single base substitution C G upstream_gene_variant PAEN-AU X 118713456 118713456 single base substitution T G downstream_gene_variant PAEN-AU X 118713456 118713456 single base substitution T G intron_variant PAEN-AU X 118713456 118713456 single base substitution T G upstream_gene_variant PAEN-AU X 118718888 118718888 single base substitution C A downstream_gene_variant PAEN-IT X 118709727 118709727 single base substitution A G downstream_gene_variant PAEN-IT X 118709727 118709727 single base substitution A G intron_variant PAEN-IT X 118709727 118709727 single base substitution A G upstream_gene_variant PAEN-IT X 118717294 118717294 single base substitution A G 3_prime_UTR_variant PBCA-DE X 118707315 118707315 single base substitution G A upstream_gene_variant PBCA-DE X 118709364 118709364 single base substitution G A exon_variant PBCA-DE X 118709364 118709364 single base substitution G A splice_donor_variant PBCA-DE X 118709364 118709364 single base substitution G A upstream_gene_variant PBCA-DE X 118711711 118711711 single base substitution C A downstream_gene_variant PBCA-DE X 118711711 118711711 single base substitution C A intron_variant PBCA-DE X 118711711 118711711 single base substitution C A upstream_gene_variant PBCA-DE X 118712804 118712804 single base substitution C T downstream_gene_variant PBCA-DE X 118712804 118712804 single base substitution C T intron_variant PBCA-DE X 118712804 118712804 single base substitution C T upstream_gene_variant PBCA-DE X 118717638 118717638 single base substitution T G 3_prime_UTR_variant PBCA-DE X 118717638 118717638 single base substitution T G downstream_gene_variant PBCA-DE X 118719426 118719426 single base substitution C A downstream_gene_variant PRAD-UK X 118716128 118716128 single base substitution G C intron_variant PRAD-UK X 118717141 118717141 single base substitution C A missense_variant Q128K 382C>A PRAD-UK X 118717141 118717141 single base substitution C A missense_variant Q53K 157C>A PRAD-UK X 118717141 118717141 single base substitution C A missense_variant Q98K 292C>A PRAD-UK X 118717591 118717591 single base substitution A C 3_prime_UTR_variant PRAD-UK X 118717591 118717591 single base substitution A C downstream_gene_variant READ-US X 118708691 118708691 single base substitution G A missense_variant R6Q 17G>A READ-US X 118708691 118708691 single base substitution G A upstream_gene_variant READ-US X 118716593 118716593 single base substitution G A missense_variant R20H 59G>A READ-US X 118716593 118716593 single base substitution G A missense_variant R65H 194G>A READ-US X 118716593 118716593 single base substitution G A missense_variant R95H 284G>A SKCA-BR X 118706489 118706489 single base substitution G A upstream_gene_variant SKCA-BR X 118707760 118707760 single base substitution G A upstream_gene_variant SKCA-BR X 118707949 118707949 single base substitution G C upstream_gene_variant SKCA-BR X 118708412 118708412 single base substitution A C upstream_gene_variant SKCA-BR X 118709824 118709824 single base substitution C T downstream_gene_variant SKCA-BR X 118709824 118709824 single base substitution C T intron_variant SKCA-BR X 118709824 118709824 single base substitution C T upstream_gene_variant SKCA-BR X 118717164 118717164 single base substitution G A synonymous_variant R105R 315G>A SKCA-BR X 118717164 118717164 single base substitution G A synonymous_variant R135R 405G>A SKCA-BR X 118717164 118717164 single base substitution G A synonymous_variant R60R 180G>A SKCA-BR X 118719006 118719006 single base substitution G A downstream_gene_variant SKCA-BR X 118722357 118722358 deletion of <=200bp AT - downstream_gene_variant SKCA-BR X 118722772 118722772 single base substitution G A downstream_gene_variant SKCM-US X 118708942 118708942 single base substitution C T splice_region_variant SKCM-US X 118709340 118709340 single base substitution C T missense_variant P43L 128C>T SKCM-US X 118709340 118709340 single base substitution C T splice_region_variant SKCM-US X 118709340 118709340 single base substitution C T upstream_gene_variant STAD-US X 118708930 118708930 single base substitution C T exon_variant STAD-US X 118708930 118708930 single base substitution C T synonymous_variant N37N 111C>T STAD-US X 118717107 118717107 single base substitution C A synonymous_variant P116P 348C>A STAD-US X 118717107 118717107 single base substitution C A synonymous_variant P41P 123C>A STAD-US X 118717107 118717107 single base substitution C A synonymous_variant P86P 258C>A STAD-US X 118717213 118717213 single base substitution T C missense_variant C122R 364T>C STAD-US X 118717213 118717213 single base substitution T C missense_variant C152R 454T>C STAD-US X 118717213 118717213 single base substitution T C missense_variant C77R 229T>C STAD-US X 118723331 118723331 single base substitution A G downstream_gene_variant STAD-US X 118723342 118723342 single base substitution G A downstream_gene_variant THCA-US X 118708873 118708873 single base substitution G A exon_variant THCA-US X 118708873 118708873 single base substitution G A synonymous_variant E18E 54G>A UCEC-US X 118715533 118715533 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US X 118715533 118715533 single base substitution T A intron_variant UCEC-US X 118715533 118715533 single base substitution T A missense_variant F72Y 215T>A UCEC-US X 118716599 118716599 single base substitution G T missense_variant S22I 65G>T UCEC-US X 118716599 118716599 single base substitution G T missense_variant S67I 200G>T UCEC-US X 118716599 118716599 single base substitution G T missense_variant S97I 290G>T UCEC-US X 118717176 118717176 single base substitution G A synonymous_variant K109K 327G>A UCEC-US X 118717176 118717176 single base substitution G A synonymous_variant K139K 417G>A UCEC-US X 118717176 118717176 single base substitution G A synonymous_variant K64K 192G>A UCEC-US X 118717208 118717208 single base substitution G A missense_variant R120H 359G>A UCEC-US X 118717208 118717208 single base substitution G A missense_variant R150H 449G>A UCEC-US X 118717208 118717208 single base substitution G A missense_variant R75H 224G>A UCEC-US X 118723341 118723341 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A010-01 COSM286228 c.172G>T p.E58* Substitution - Nonsense 23:119581527-119581527 + TCGA-AX-A060-01 COSM1113877 c.215T>A p.F72Y Substitution - Missense 23:119581570-119581570 + CSCC-7-T COSM4538173 c.250G>C p.D84H Substitution - Missense 23:119582596-119582596 + LUAD-NYU160 COSM370649 c.65C>A p.A22D Substitution - Missense 23:119574921-119574921 + TCGA-GV-A3QI-01 COSM1315142 c.76G>A p.G26R Substitution - Missense 23:119574932-119574932 + tumor_4112447 COSM5948423 c.108G>C p.W36C Substitution - Missense 23:119574964-119574964 + CH-103-T2 COSM5650524 c.347C>T p.P116L Substitution - Missense 23:119583143-119583143 + TCGA-HU-A4GU-01 COSM4106181 c.348C>A p.P116P Substitution - coding silent 23:119583144-119583144 + TCGA-FS-A4F5-06 COSM3557276 c.123C>T p.F41F Substitution - coding silent 23:119574979-119574979 + TCGA-BP-4351-01 COSM3363780 c.256A>G p.S86G Substitution - Missense 23:119582602-119582602 + 2112 COSM144408 c.79G>C p.A27P Substitution - Missense 23:119574935-119574935 + CH-103-T2 COSM5650525 c.257C>T p.P86L Substitution - Missense 23:119583143-119583143 + 587238 COSM1231536 c.98T>C p.I33T Substitution - Missense 23:119574954-119574954 + TCGA-EI-6510-01 COSM3424395 c.17G>A p.R6Q Substitution - Missense 23:119574728-119574728 + TCGA-EJ-7125-01 COSM610756 c.404G>T p.R135L Substitution - Missense 23:119583200-119583200 + PD11753a COSM5776514 c.167G>A p.S56N Substitution - Missense 23:119582603-119582603 + Patient_1 COSM5044681 c.358C>T p.R120C Substitution - Missense 23:119583244-119583244 + TCGA-EI-6510-01 COSM3424394 c.17G>A p.R6Q Substitution - Missense 23:119574728-119574728 + LPJ023 COSM1316001 c.244T>G p.Y82D Substitution - Missense 23:119582590-119582590 + RK222_C01 COSM4780227 c.309C>A p.N103K Substitution - Missense 23:119583195-119583195 + TCGA-FW-A5DY-06 COSM3557279 c.128C>T p.P43L Substitution - Missense 23:119575377-119575377 + 2318494 COSM4777232 c.296C>T p.T99I Substitution - Missense 23:119582642-119582642 + TCGA-FS-A4F5-06 COSM3557277 c.123C>T p.F41F Substitution - coding silent 23:119574979-119574979 + TCGA-L6-A4EU-01 COSM3372034 c.54G>A p.E18E Substitution - coding silent 23:119574910-119574910 + TCGA-56-6545-01 COSM755660 c.42G>T p.K14N Substitution - Missense 23:119574753-119574753 + TCGA-BP-4351-01 COSM3363781 c.166A>G p.S56G Substitution - Missense 23:119582602-119582602 + TCGA-DC-6682-01 COSM1569737 c.284G>A p.R95H Substitution - Missense 23:119582630-119582630 + 0084_CRUK_PC_0084_T1_DNA COSM4420849 c.382C>A p.Q128K Substitution - Missense 23:119583178-119583178 + TCGA-B5-A11E-01 COSM1113881 c.327G>A p.K109K Substitution - coding silent 23:119583213-119583213 + Patient_1 COSM5044680 c.448C>T p.R150C Substitution - Missense 23:119583244-119583244 + LPJ023 COSM1316002 c.154T>G p.Y52D Substitution - Missense 23:119582590-119582590 + TCGA-EJ-7125-01 COSM610757 c.314G>T p.R105L Substitution - Missense 23:119583200-119583200 + T3094 COSM4738664 c.129T>G p.P43P Substitution - coding silent 23:119575378-119575378 + GHE1437 COSM5715204 c.118A>T p.I40F Substitution - Missense 23:119574974-119574974 + TCGA-43-6770-01 COSM755655 c.449G>T p.R150L Substitution - Missense 23:119583245-119583245 + STC297 COSM5064307 c.447G>A p.W149* Substitution - Nonsense 23:119583243-119583243 + TCGA-43-6770-01 COSM755656 c.359G>T p.R120L Substitution - Missense 23:119583245-119583245 + PD7394a COSM3720120 c.329G>C p.R110P Substitution - Missense 23:119583215-119583215 + TCGA-B5-A11Y-01 COSM1113883 c.359G>A p.R120H Substitution - Missense 23:119583245-119583245 + TCGA-GV-A3QI-01 COSM1315143 c.76G>A p.G26R Substitution - Missense 23:119574932-119574932 + 0084_CRUK_PC_0084_T1_DNA COSM4420850 c.292C>A p.Q98K Substitution - Missense 23:119583178-119583178 + ccRCC-10 COSM1664854 c.99A>G p.I33M Substitution - Missense 23:119574955-119574955 + TCGA-AP-A056-01 COSM1113879 c.200G>T p.S67I Substitution - Missense 23:119582636-119582636 + TCGA-FW-A5DY-06 COSM3557278 c.128C>T p.P43L Substitution - Missense 23:119575377-119575377 + STC297 COSM5064308 c.357G>A p.W119* Substitution - Nonsense 23:119583243-119583243 + 2318494 COSM4777233 c.206C>T p.T69I Substitution - Missense 23:119582642-119582642 + PD7394a COSM3720119 c.419G>C p.R140P Substitution - Missense 23:119583215-119583215 + RK222_C01 COSM4780226 c.399C>A p.N133K Substitution - Missense 23:119583195-119583195 + LUAD-NYU160 COSM370648 c.65C>A p.A22D Substitution - Missense 23:119574921-119574921 + PD11753a COSM5776513 c.257G>A p.S86N Substitution - Missense 23:119582603-119582603 + TCGA-AA-3492-01 COSM1465217 c.418C>T p.R140C Substitution - Missense 23:119583214-119583214 + ICGC_MB88 COSM3764956 c.151+1G>A p.? Unknown 23:119575401-119575401 + TCGA-L6-A4EU-01 COSM3372033 c.54G>A p.E18E Substitution - coding silent 23:119574910-119574910 + TCGA-B6-A0WV-01 COSM456606 c.167delC p.T56fs*2 Deletion - Frameshift 23:119581522-119581522 + TCGA-DC-6682-01 COSM1569738 c.194G>A p.R65H Substitution - Missense 23:119582630-119582630 + CLL162 COSM1292920 c.129_130insGA p.G45fs*33 Insertion - Frameshift 23:119575378-119575379 + CLL162 COSM1292919 c.129_130insGA p.G45fs*14 Insertion - Frameshift 23:119575378-119575379 + ccRCC-10 COSM1664853 c.99A>G p.I33M Substitution - Missense 23:119574955-119574955 + 587238 COSM1231537 c.98T>C p.I33T Substitution - Missense 23:119574954-119574954 + GHE1437 COSM5715205 c.118A>T p.I40F Substitution - Missense 23:119574974-119574974 + CSCC-57-T COSM4543072 c.330G>A p.Q110Q Substitution - coding silent 23:119582676-119582676 + CSCC-57-T COSM4543073 c.240G>A p.Q80Q Substitution - coding silent 23:119582676-119582676 + TCGA-56-6545-01 COSM755659 c.42G>T p.K14N Substitution - Missense 23:119574753-119574753 + T3094 COSM4738663 c.129T>G p.P43P Substitution - coding silent 23:119575378-119575378 + TCGA-AA-3492-01 COSM1465218 c.328C>T p.R110C Substitution - Missense 23:119583214-119583214 + TCGA-A2-A3XU-01 COSM3843379 c.419G>T p.R140L Substitution - Missense 23:119583215-119583215 + tumor_4112447 COSM5948422 c.108G>C p.W36C Substitution - Missense 23:119574964-119574964 + TCGA-HU-A4GU-01 COSM4106182 c.258C>A p.P86P Substitution - coding silent 23:119583144-119583144 + TCGA-B5-A11Y-01 COSM1113882 c.449G>A p.R150H Substitution - Missense 23:119583245-119583245 + TCGA-B5-A11E-01 COSM1113880 c.417G>A p.K139K Substitution - coding silent 23:119583213-119583213 + TCGA-BR-4362-01 COSM4106183 c.454T>C p.C152R Substitution - Missense 23:119583250-119583250 + TCGA-AP-A056-01 COSM1113878 c.290G>T p.S97I Substitution - Missense 23:119582636-119582636 + TCGA-BR-6452-01 COSM4106180 c.111C>T p.N37N Substitution - coding silent 23:119574967-119574967 + ICGC_MB88 COSM3764955 c.151+1G>A p.? Unknown 23:119575401-119575401 + CSCC-7-T COSM4538174 c.160G>C p.D54H Substitution - Missense 23:119582596-119582596 + TCGA-A2-A3XU-01 COSM3843380 c.329G>T p.R110L Substitution - Missense 23:119583215-119583215 + TCGA-BR-4362-01 COSM4106184 c.364T>C p.C122R Substitution - Missense 23:119583250-119583250 + TCGA-BR-6452-01 COSM4106179 c.111C>T p.N37N Substitution - coding silent 23:119574967-119574967 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.379466 Xq24 312180 2424398|dbSNP|BC010175|G/T|non-coding||615|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAATGG - SpliceDonorDeletion . c.237_241+1delAAATGG X 118715555 RCCC A G Missense p.S86G c.256A>G X 118716565 RCCC A T Missense p.S124C c.370A>T X 118717129 LUAD A T SpliceAcceptorSNV . c.242-2A>T X 118716549 LUAD C A 3-UTRSNV . c.456+66C>A X 118717281 CM C - Frameshift p.T56Kfs*2 c.167delC X 118715485 BRCA - GA Frameshift p.E44Gfs*15 c.130_131insGA X 118709342 CLL G A Missense p.G26R c.76G>A X 118708895 BLCA G A Missense p.R150H c.449G>A X 118717208 UCEC G A SpliceDonorSNV . c.151+1G>A X 118709364 MB G T Missense p.D19Y c.55G>T X 118708874 LUAD G T Missense p.K14N c.42G>T X 118708716 LUSC G T Missense p.R150L c.449G>T X 118717208 LUSC T A Missense p.F72Y c.215T>A X 118715533 UCEC