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 ACC 20 55931510 55931510 + Silent SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr20:55931510C>T c.204C>T c.(202-204)tgC>tgT p.C68C BLCA 20 55929795 55929795 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr20:55929795G>A c.118G>A c.(118-120)Gat>Aat p.D40N BLCA 20 55948637 55948637 + Splice_Site SNP C C T TCGA-FD-A3B4-01A-12D-A202-08 TCGA-FD-A3B4-10A-01D-A202-08 g.chr20:55948637C>T c.749C>T c.(748-750)cCc>cTc p.P250L BLCA 20 55948726 55948726 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr20:55948726G>C c.757G>C c.(757-759)Gat>Cat p.D253H BLCA 20 55949817 55949817 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:55949817G>A c.980G>A c.(979-981)gGa>gAa p.G327E BRCA 20 55940493 55940493 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr20:55940493G>A c.370G>A c.(370-372)Gca>Aca p.A124T BRCA 20 55948751 55948751 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr20:55948751G>A c.782G>A c.(781-783)cGa>cAa p.R261Q BRCA 20 55949798 55949798 + Missense_Mutation SNP T T A TCGA-A2-A0YJ-01A-11D-A10G-09 TCGA-A2-A0YJ-10A-01D-A10G-09 g.chr20:55949798T>A c.961T>A c.(961-963)Tgc>Agc p.C321S BRCA 20 55949808 55949808 + Missense_Mutation SNP A A G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 g.chr20:55949808A>G c.971A>G c.(970-972)aAt>aGt p.N324S BRCA 20 55953115 55953115 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 g.chr20:55953115G>A c.1067G>A c.(1066-1068)cGt>cAt p.R356H CESC 20 55931505 55931505 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 g.chr20:55931505C>T c.199C>T c.(199-201)Cgc>Tgc p.R67C COAD 20 55929135 55929135 + Missense_Mutation SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr20:55929135G>A c.41G>A c.(40-42)gGg>gAg p.G14E COAD 20 55929766 55929766 + Splice_Site SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr20:55929766A>G c.e3-1 COAD 20 55948626 55948626 + Frame_Shift_Del DEL C C - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr20:55948626delC c.738delC c.(736-738)aacfs p.N246fs COAD 20 55948626 55948626 + Frame_Shift_Del DEL C C - TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr20:55948626delC c.738delC c.(736-738)aacfs p.N246fs COAD 20 55948793 55948793 + Splice_Site SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr20:55948793C>T c.824C>T c.(823-825)gCg>gTg p.A275V COAD 20 55953093 55953093 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr20:55953093delA c.1045delA c.(1045-1047)aaafs p.K350fs COADREAD 20 55929135 55929135 + Missense_Mutation SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr20:55929135G>A c.41G>A c.(40-42)gGg>gAg p.G14E COADREAD 20 55929766 55929766 + Splice_Site SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr20:55929766A>G c.e3-1 COADREAD 20 55948626 55948626 + Frame_Shift_Del DEL C C - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr20:55948626delC c.738delC c.(736-738)aacfs p.N246fs COADREAD 20 55948626 55948626 + Frame_Shift_Del DEL C C - TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr20:55948626delC c.738delC c.(736-738)aacfs p.N246fs COADREAD 20 55948631 55948631 + Missense_Mutation SNP C C T TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr20:55948631C>T c.743C>T c.(742-744)cCg>cTg p.P248L COADREAD 20 55948750 55948750 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:55948750C>T c.781C>T c.(781-783)Cga>Tga p.R261* COADREAD 20 55948793 55948793 + Splice_Site SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr20:55948793C>T c.824C>T c.(823-825)gCg>gTg p.A275V COADREAD 20 55953093 55953093 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr20:55953093delA c.1045delA c.(1045-1047)aaafs p.K350fs ESCA 20 55929119 55929119 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr20:55929119G>T c.25G>T c.(25-27)Ggt>Tgt p.G9C GBMLGG 20 55948583 55948583 + Missense_Mutation SNP C C T TCGA-S9-A6WG-01A-11D-A33T-08 TCGA-S9-A6WG-10A-01D-A33W-08 g.chr20:55948583C>T c.695C>T c.(694-696)gCc>gTc p.A232V HNSC 20 55929772 55929772 + Missense_Mutation SNP T T C TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr20:55929772T>C c.95T>C c.(94-96)aTt>aCt p.I32T LGG 20 55948583 55948583 + Missense_Mutation SNP C C T TCGA-S9-A6WG-01A-11D-A33T-08 TCGA-S9-A6WG-10A-01D-A33W-08 g.chr20:55948583C>T c.695C>T c.(694-696)gCc>gTc p.A232V LIHC 20 55949682 55949682 + Missense_Mutation SNP A A G TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr20:55949682A>G c.845A>G c.(844-846)cAt>cGt p.H282R LUAD 20 55929848 55929848 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr20:55929848T>A c.171T>A c.(169-171)ctT>ctA p.L57L LUAD 20 55929849 55929849 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr20:55929849A>T c.172A>T c.(172-174)Att>Ttt p.I58F LUAD 20 55948792 55948792 + Missense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr20:55948792G>T c.823G>T c.(823-825)Gcg>Tcg p.A275S LUSC 20 55943782 55943782 + Missense_Mutation SNP G G C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr20:55943782G>C c.556G>C c.(556-558)Gca>Cca p.A186P LUSC 20 55948590 55948590 + Silent SNP A A T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr20:55948590A>T c.702A>T c.(700-702)ggA>ggT p.G234G LUSC 20 55953067 55953067 + Splice_Site SNP A A G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr20:55953067A>G c.e12-1 OV 20 55942077 55942077 + Missense_Mutation SNP G G T TCGA-24-1850-01A-01W-0639-09 TCGA-24-1850-10A-01W-0639-09 g.chr20:55942077G>T c.476G>T c.(475-477)cGa>cTa p.R159L PAAD 20 55949767 55949767 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:55949767T>C c.930T>C c.(928-930)acT>acC p.T310T PRAD 20 55948566 55948566 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 g.chr20:55948566C>G c.678C>G c.(676-678)aaC>aaG p.N226K PRAD 20 55948583 55948583 + Missense_Mutation SNP C C T TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 g.chr20:55948583C>T c.695C>T c.(694-696)gCc>gTc p.A232V PRAD 20 55948750 55948750 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:55948750C>T c.781C>T c.(781-783)Cga>Tga p.R261* READ 20 55948631 55948631 + Missense_Mutation SNP C C T TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr20:55948631C>T c.743C>T c.(742-744)cCg>cTg p.P248L READ 20 55948750 55948750 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:55948750C>T c.781C>T c.(781-783)Cga>Tga p.R261* SARC 20 55949675 55949675 + Missense_Mutation SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 g.chr20:55949675G>A c.838G>A c.(838-840)Gcg>Acg p.A280T SKCM 20 55948608 55948608 + Silent SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr20:55948608T>C c.720T>C c.(718-720)gtT>gtC p.V240V SKCM 20 55948794 55948794 + Splice_Site SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr20:55948794G>C c.825G>C c.(823-825)gcG>gcC p.A275A SKCM 20 55949720 55949720 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr20:55949720G>A c.883G>A c.(883-885)Ggt>Agt p.G295S SKCM 20 55949721 55949721 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr20:55949721G>A c.884G>A c.(883-885)gGt>gAt p.G295D SKCM 20 55953129 55953129 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr20:55953129G>A c.1081G>A c.(1081-1083)Gag>Aag p.E361K

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 20 55929795 55929795 single base substitution G A exon_variant BLCA-US 20 55929795 55929795 single base substitution G A missense_variant D40N 118G>A BLCA-US 20 55948726 55948726 single base substitution G C exon_variant BLCA-US 20 55948726 55948726 single base substitution G C missense_variant D253H 757G>C BLCA-US 20 55949817 55949817 single base substitution G A 3_prime_UTR_variant BLCA-US 20 55949817 55949817 single base substitution G A exon_variant BLCA-US 20 55949817 55949817 single base substitution G A missense_variant G327E 980G>A BRCA-EU 20 55921507 55921507 single base substitution A T upstream_gene_variant BRCA-EU 20 55921684 55921684 single base substitution G A upstream_gene_variant BRCA-EU 20 55922517 55922517 single base substitution C T upstream_gene_variant BRCA-EU 20 55922557 55922557 single base substitution T G upstream_gene_variant BRCA-EU 20 55922738 55922738 single base substitution A G upstream_gene_variant BRCA-EU 20 55923195 55923195 single base substitution G C upstream_gene_variant BRCA-EU 20 55923196 55923196 single base substitution G T upstream_gene_variant BRCA-EU 20 55923530 55923530 single base substitution G A upstream_gene_variant BRCA-EU 20 55923841 55923841 single base substitution G A upstream_gene_variant BRCA-EU 20 55925333 55925333 single base substitution C T upstream_gene_variant BRCA-EU 20 55928226 55928226 single base substitution C T intron_variant BRCA-EU 20 55929053 55929053 single base substitution A G intron_variant BRCA-EU 20 55929097 55929097 single base substitution G C exon_variant BRCA-EU 20 55929097 55929097 single base substitution G C start_lost M1I 3G>C BRCA-EU 20 55929473 55929473 single base substitution G C intron_variant BRCA-EU 20 55930924 55930924 single base substitution A C intron_variant BRCA-EU 20 55930939 55930939 single base substitution G C intron_variant BRCA-EU 20 55931398 55931398 single base substitution G C intron_variant BRCA-EU 20 55931482 55931482 single base substitution G T intron_variant BRCA-EU 20 55934078 55934078 single base substitution G A downstream_gene_variant BRCA-EU 20 55934078 55934078 single base substitution G A intron_variant BRCA-EU 20 55934595 55934595 single base substitution G C downstream_gene_variant BRCA-EU 20 55934595 55934595 single base substitution G C intron_variant BRCA-EU 20 55935800 55935800 deletion of <=200bp G - downstream_gene_variant BRCA-EU 20 55935800 55935800 deletion of <=200bp G - intron_variant BRCA-EU 20 55936076 55936076 single base substitution C T downstream_gene_variant BRCA-EU 20 55936076 55936076 single base substitution C T intron_variant BRCA-EU 20 55937190 55937190 single base substitution C A intron_variant BRCA-EU 20 55937445 55937445 single base substitution G A intron_variant BRCA-EU 20 55938404 55938528 deletion of <=200bp ACAAAAAATAGAAAAATTAGCCGGGTTTGGTGGCGCACACCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAGGATCACTTGATCCCAGGAGACTGAGGCTGCAGTGATCCATGATGACACC - intron_variant BRCA-EU 20 55938720 55938720 single base substitution G A intron_variant BRCA-EU 20 55939056 55939056 single base substitution C T intron_variant BRCA-EU 20 55940292 55940292 single base substitution A T intron_variant BRCA-EU 20 55940349 55940350 deletion of <=200bp AT - intron_variant BRCA-EU 20 55940508 55940508 single base substitution G A intron_variant BRCA-EU 20 55941965 55941965 single base substitution G C downstream_gene_variant BRCA-EU 20 55941965 55941965 single base substitution G C intron_variant BRCA-EU 20 55941965 55941965 single base substitution G C upstream_gene_variant BRCA-EU 20 55942112 55942112 single base substitution G A downstream_gene_variant BRCA-EU 20 55942112 55942112 single base substitution G A exon_variant BRCA-EU 20 55942112 55942112 single base substitution G A missense_variant E171K 511G>A BRCA-EU 20 55942112 55942112 single base substitution G A upstream_gene_variant BRCA-EU 20 55942366 55942366 single base substitution C T downstream_gene_variant BRCA-EU 20 55942366 55942366 single base substitution C T intron_variant BRCA-EU 20 55942366 55942366 single base substitution C T upstream_gene_variant BRCA-EU 20 55944501 55944501 single base substitution G A downstream_gene_variant BRCA-EU 20 55944501 55944501 single base substitution G A intron_variant BRCA-EU 20 55944501 55944501 single base substitution G A upstream_gene_variant BRCA-EU 20 55944503 55944503 single base substitution C G downstream_gene_variant BRCA-EU 20 55944503 55944503 single base substitution C G intron_variant BRCA-EU 20 55944503 55944503 single base substitution C G upstream_gene_variant BRCA-EU 20 55944598 55944598 single base substitution C A downstream_gene_variant BRCA-EU 20 55944598 55944598 single base substitution C A intron_variant BRCA-EU 20 55944598 55944598 single base substitution C A upstream_gene_variant BRCA-EU 20 55946158 55946158 single base substitution C G downstream_gene_variant BRCA-EU 20 55946158 55946158 single base substitution C G intron_variant BRCA-EU 20 55946158 55946158 single base substitution C G upstream_gene_variant BRCA-EU 20 55947029 55947029 single base substitution C T exon_variant BRCA-EU 20 55947029 55947029 single base substitution C T intron_variant BRCA-EU 20 55947467 55947467 single base substitution T A exon_variant BRCA-EU 20 55947467 55947467 single base substitution T A intron_variant BRCA-EU 20 55948037 55948037 single base substitution A T exon_variant BRCA-EU 20 55948037 55948037 single base substitution A T intron_variant BRCA-EU 20 55951664 55951664 single base substitution C A downstream_gene_variant BRCA-EU 20 55951664 55951664 single base substitution C A intron_variant BRCA-EU 20 55951784 55951784 single base substitution C A downstream_gene_variant BRCA-EU 20 55951784 55951784 single base substitution C A intron_variant BRCA-EU 20 55952435 55952435 single base substitution G T downstream_gene_variant BRCA-EU 20 55952435 55952435 single base substitution G T intron_variant BRCA-EU 20 55953061 55953061 single base substitution C G downstream_gene_variant BRCA-EU 20 55953061 55953061 single base substitution C G intron_variant BRCA-EU 20 55953674 55953676 deletion of <=200bp CTG - 3_prime_UTR_variant BRCA-EU 20 55953674 55953676 deletion of <=200bp CTG - downstream_gene_variant BRCA-EU 20 55953757 55953757 single base substitution C G 3_prime_UTR_variant BRCA-EU 20 55953757 55953757 single base substitution C G downstream_gene_variant BRCA-EU 20 55955425 55955425 single base substitution G A downstream_gene_variant BRCA-EU 20 55955633 55955633 single base substitution C T downstream_gene_variant BRCA-EU 20 55957814 55957814 single base substitution G A downstream_gene_variant BRCA-FR 20 55921507 55921507 single base substitution A T upstream_gene_variant BRCA-FR 20 55922517 55922517 single base substitution C T upstream_gene_variant BRCA-FR 20 55922738 55922738 single base substitution A G upstream_gene_variant BRCA-FR 20 55925715 55925715 single base substitution T C upstream_gene_variant BRCA-FR 20 55928226 55928226 single base substitution C T intron_variant BRCA-FR 20 55934078 55934078 single base substitution G A downstream_gene_variant BRCA-FR 20 55934078 55934078 single base substitution G A intron_variant BRCA-FR 20 55935489 55935489 single base substitution G A downstream_gene_variant BRCA-FR 20 55935489 55935489 single base substitution G A intron_variant BRCA-FR 20 55937190 55937190 single base substitution C A intron_variant BRCA-FR 20 55940292 55940292 single base substitution A T intron_variant BRCA-FR 20 55942975 55942975 single base substitution C G downstream_gene_variant BRCA-FR 20 55942975 55942975 single base substitution C G intron_variant BRCA-FR 20 55942975 55942975 single base substitution C G upstream_gene_variant BRCA-FR 20 55947029 55947029 single base substitution C T exon_variant BRCA-FR 20 55947029 55947029 single base substitution C T intron_variant BRCA-FR 20 55951784 55951784 single base substitution C A downstream_gene_variant BRCA-FR 20 55951784 55951784 single base substitution C A intron_variant BRCA-US 20 55940493 55940493 single base substitution G A exon_variant BRCA-US 20 55940493 55940493 single base substitution G A missense_variant A124T 370G>A BRCA-US 20 55948751 55948751 single base substitution G A 3_prime_UTR_variant BRCA-US 20 55948751 55948751 single base substitution G A exon_variant BRCA-US 20 55948751 55948751 single base substitution G A missense_variant R261Q 782G>A BRCA-US 20 55949798 55949798 single base substitution T A 3_prime_UTR_variant BRCA-US 20 55949798 55949798 single base substitution T A exon_variant BRCA-US 20 55949798 55949798 single base substitution T A missense_variant C321S 961T>A BRCA-US 20 55949808 55949808 single base substitution A G 3_prime_UTR_variant BRCA-US 20 55949808 55949808 single base substitution A G exon_variant BRCA-US 20 55949808 55949808 single base substitution A G missense_variant N324S 971A>G BRCA-US 20 55953115 55953115 single base substitution G A 3_prime_UTR_variant BRCA-US 20 55953115 55953115 single base substitution G A downstream_gene_variant BRCA-US 20 55953115 55953115 single base substitution G A exon_variant BRCA-US 20 55953115 55953115 single base substitution G A missense_variant R356H 1067G>A BTCA-JP 20 55948626 55948626 deletion of <=200bp C - exon_variant BTCA-JP 20 55948626 55948626 deletion of <=200bp C - frameshift_variant N246 BTCA-JP 20 55948626 55948626 deletion of <=200bp C - intron_variant BTCA-JP 20 55950064 55950064 single base substitution C T intron_variant BTCA-JP 20 55950064 55950064 single base substitution C T synonymous_variant H409H 1227C>T CESC-US 20 55931505 55931505 single base substitution C T exon_variant CESC-US 20 55931505 55931505 single base substitution C T missense_variant R67C 199C>T CLLE-ES 20 55922114 55922114 single base substitution C G upstream_gene_variant CLLE-ES 20 55943038 55943038 single base substitution C T downstream_gene_variant CLLE-ES 20 55943038 55943038 single base substitution C T intron_variant CLLE-ES 20 55943038 55943038 single base substitution C T upstream_gene_variant COAD-US 20 55929135 55929135 single base substitution G A exon_variant COAD-US 20 55929135 55929135 single base substitution G A missense_variant G14E 41G>A COAD-US 20 55929766 55929766 single base substitution A G splice_acceptor_variant COAD-US 20 55948626 55948626 deletion of <=200bp C - exon_variant COAD-US 20 55948626 55948626 deletion of <=200bp C - frameshift_variant N246 COAD-US 20 55948626 55948626 deletion of <=200bp C - intron_variant COCA-CN 20 55929015 55929015 single base substitution T G intron_variant COCA-CN 20 55931616 55931616 single base substitution G A downstream_gene_variant COCA-CN 20 55931616 55931616 single base substitution G A intron_variant COCA-CN 20 55942132 55942132 single base substitution C T downstream_gene_variant COCA-CN 20 55942132 55942132 single base substitution C T exon_variant COCA-CN 20 55942132 55942132 single base substitution C T synonymous_variant D177D 531C>T COCA-CN 20 55942132 55942132 single base substitution C T upstream_gene_variant COCA-CN 20 55942290 55942290 single base substitution G A downstream_gene_variant COCA-CN 20 55942290 55942290 single base substitution G A intron_variant COCA-CN 20 55942290 55942290 single base substitution G A upstream_gene_variant COCA-CN 20 55948574 55948574 single base substitution C T exon_variant COCA-CN 20 55948574 55948574 single base substitution C T intron_variant COCA-CN 20 55948574 55948574 single base substitution C T missense_variant T229I 686C>T COCA-CN 20 55949619 55949619 single base substitution C T intron_variant ESAD-UK 20 55921638 55921638 single base substitution T C upstream_gene_variant ESAD-UK 20 55923518 55923518 single base substitution C T upstream_gene_variant ESAD-UK 20 55923654 55923654 single base substitution G A upstream_gene_variant ESAD-UK 20 55924509 55924509 single base substitution C T upstream_gene_variant ESAD-UK 20 55925544 55925544 single base substitution G A upstream_gene_variant ESAD-UK 20 55927116 55927116 single base substitution G T intron_variant ESAD-UK 20 55928861 55928861 single base substitution T C intron_variant ESAD-UK 20 55929348 55929348 single base substitution G A intron_variant ESAD-UK 20 55930036 55930036 insertion of <=200bp - TA intron_variant ESAD-UK 20 55933064 55933064 single base substitution A T downstream_gene_variant ESAD-UK 20 55933064 55933064 single base substitution A T intron_variant ESAD-UK 20 55934196 55934196 single base substitution A G downstream_gene_variant ESAD-UK 20 55934196 55934196 single base substitution A G intron_variant ESAD-UK 20 55936886 55936886 single base substitution G A intron_variant ESAD-UK 20 55942270 55942270 single base substitution G A downstream_gene_variant ESAD-UK 20 55942270 55942270 single base substitution G A intron_variant ESAD-UK 20 55942270 55942270 single base substitution G A upstream_gene_variant ESAD-UK 20 55943037 55943037 single base substitution C G downstream_gene_variant ESAD-UK 20 55943037 55943037 single base substitution C G intron_variant ESAD-UK 20 55943037 55943037 single base substitution C G upstream_gene_variant ESAD-UK 20 55943128 55943128 single base substitution A G downstream_gene_variant ESAD-UK 20 55943128 55943128 single base substitution A G intron_variant ESAD-UK 20 55943128 55943128 single base substitution A G upstream_gene_variant ESAD-UK 20 55946213 55946213 single base substitution A T downstream_gene_variant ESAD-UK 20 55946213 55946213 single base substitution A T exon_variant ESAD-UK 20 55946213 55946213 single base substitution A T intron_variant ESAD-UK 20 55947376 55947376 deletion of <=200bp A - exon_variant ESAD-UK 20 55947376 55947376 deletion of <=200bp A - intron_variant ESAD-UK 20 55949130 55949130 single base substitution G A intron_variant ESAD-UK 20 55949536 55949536 single base substitution C T intron_variant ESAD-UK 20 55949756 55949756 single base substitution A G 3_prime_UTR_variant ESAD-UK 20 55949756 55949756 single base substitution A G exon_variant ESAD-UK 20 55949756 55949756 single base substitution A G missense_variant K307E 919A>G ESAD-UK 20 55949932 55949932 single base substitution G A intron_variant ESAD-UK 20 55949932 55949932 single base substitution G A synonymous_variant L365L 1095G>A ESAD-UK 20 55951278 55951278 single base substitution G A downstream_gene_variant ESAD-UK 20 55951278 55951278 single base substitution G A intron_variant ESAD-UK 20 55951900 55951900 insertion of <=200bp - A downstream_gene_variant ESAD-UK 20 55951900 55951900 insertion of <=200bp - A intron_variant ESAD-UK 20 55953022 55953022 single base substitution A G downstream_gene_variant ESAD-UK 20 55953022 55953022 single base substitution A G intron_variant ESAD-UK 20 55953318 55953318 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 55953318 55953318 single base substitution G A downstream_gene_variant ESAD-UK 20 55953318 55953318 single base substitution G A exon_variant ESAD-UK 20 55957397 55957397 deletion of <=200bp T - downstream_gene_variant ESAD-UK 20 55957400 55957408 deletion of <=200bp GGGAAACAC - downstream_gene_variant ESAD-UK 20 55958255 55958255 insertion of <=200bp - T downstream_gene_variant LAML-KR 20 55949735 55949735 single base substitution T C 3_prime_UTR_variant LAML-KR 20 55949735 55949735 single base substitution T C exon_variant LAML-KR 20 55949735 55949735 single base substitution T C missense_variant W300R 898T>C LICA-FR 20 55928880 55928880 single base substitution A G intron_variant LICA-FR 20 55940481 55940481 single base substitution G A exon_variant LICA-FR 20 55940481 55940481 single base substitution G A missense_variant A120T 358G>A LICA-FR 20 55948621 55948621 single base substitution A G exon_variant LICA-FR 20 55948621 55948621 single base substitution A G intron_variant LICA-FR 20 55948621 55948621 single base substitution A G missense_variant I245V 733A>G LINC-JP 20 55934667 55934667 single base substitution T G downstream_gene_variant LINC-JP 20 55934667 55934667 single base substitution T G intron_variant LINC-JP 20 55940214 55940214 single base substitution A G intron_variant LINC-JP 20 55942979 55942979 single base substitution C T downstream_gene_variant LINC-JP 20 55942979 55942979 single base substitution C T intron_variant LINC-JP 20 55942979 55942979 single base substitution C T upstream_gene_variant LINC-JP 20 55943819 55943819 single base substitution A G downstream_gene_variant LINC-JP 20 55943819 55943819 single base substitution A G exon_variant LINC-JP 20 55943819 55943819 single base substitution A G missense_variant E198G 593A>G LINC-JP 20 55943819 55943819 single base substitution A G upstream_gene_variant LIRI-JP 20 55922221 55922221 single base substitution A G upstream_gene_variant LIRI-JP 20 55922401 55922401 single base substitution C G upstream_gene_variant LIRI-JP 20 55925176 55925176 single base substitution G A upstream_gene_variant LIRI-JP 20 55925253 55925253 single base substitution C T upstream_gene_variant LIRI-JP 20 55926190 55926190 single base substitution A G 5_prime_UTR_variant LIRI-JP 20 55926190 55926190 single base substitution A G upstream_gene_variant LIRI-JP 20 55926809 55926809 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 20 55926809 55926809 single base substitution G T intron_variant LIRI-JP 20 55928930 55928930 single base substitution G A intron_variant LIRI-JP 20 55929173 55929173 single base substitution A G exon_variant LIRI-JP 20 55929173 55929173 single base substitution A G missense_variant N27D 79A>G LIRI-JP 20 55930995 55930995 single base substitution A G intron_variant LIRI-JP 20 55933903 55933903 single base substitution A T downstream_gene_variant LIRI-JP 20 55933903 55933903 single base substitution A T intron_variant LIRI-JP 20 55934824 55934869 deletion of <=200bp TGTAAAGTTATTTCTAGTTAATGCATTATGCAGAAGGTATAAGGGC - downstream_gene_variant LIRI-JP 20 55934824 55934869 deletion of <=200bp TGTAAAGTTATTTCTAGTTAATGCATTATGCAGAAGGTATAAGGGC - intron_variant LIRI-JP 20 55935422 55935422 single base substitution T G downstream_gene_variant LIRI-JP 20 55935422 55935422 single base substitution T G intron_variant LIRI-JP 20 55935709 55935709 insertion of <=200bp - TTTCAACTG downstream_gene_variant LIRI-JP 20 55935709 55935709 insertion of <=200bp - TTTCAACTG intron_variant LIRI-JP 20 55936676 55936676 insertion of <=200bp - T intron_variant LIRI-JP 20 55939578 55939578 single base substitution C A intron_variant LIRI-JP 20 55940056 55940056 single base substitution C T intron_variant LIRI-JP 20 55944852 55944852 single base substitution C A downstream_gene_variant LIRI-JP 20 55944852 55944852 single base substitution C A intron_variant LIRI-JP 20 55944852 55944852 single base substitution C A upstream_gene_variant LIRI-JP 20 55945752 55945752 single base substitution C T downstream_gene_variant LIRI-JP 20 55945752 55945752 single base substitution C T intron_variant LIRI-JP 20 55945752 55945752 single base substitution C T upstream_gene_variant LIRI-JP 20 55947072 55947072 single base substitution G A exon_variant LIRI-JP 20 55947072 55947072 single base substitution G A intron_variant LIRI-JP 20 55948925 55948925 single base substitution T C intron_variant LIRI-JP 20 55949619 55949619 single base substitution C T intron_variant LIRI-JP 20 55950596 55950596 single base substitution G A downstream_gene_variant LIRI-JP 20 55950596 55950596 single base substitution G A intron_variant LIRI-JP 20 55953381 55953381 single base substitution A C 3_prime_UTR_variant LIRI-JP 20 55953381 55953381 single base substitution A C downstream_gene_variant LIRI-JP 20 55953381 55953381 single base substitution A C exon_variant LIRI-JP 20 55953702 55953702 single base substitution G T 3_prime_UTR_variant LIRI-JP 20 55953702 55953702 single base substitution G T downstream_gene_variant LIRI-JP 20 55954457 55954457 single base substitution T C downstream_gene_variant LIRI-JP 20 55955789 55955789 single base substitution T G downstream_gene_variant LIRI-JP 20 55957269 55957269 single base substitution G A downstream_gene_variant LIRI-JP 20 55959080 55959080 single base substitution G T downstream_gene_variant LUSC-KR 20 55929881 55929881 single base substitution T C intron_variant LUSC-KR 20 55931715 55931715 single base substitution G A downstream_gene_variant LUSC-KR 20 55931715 55931715 single base substitution G A intron_variant LUSC-KR 20 55931904 55931904 single base substitution G C downstream_gene_variant LUSC-KR 20 55931904 55931904 single base substitution G C intron_variant LUSC-KR 20 55931915 55931915 single base substitution G C downstream_gene_variant LUSC-KR 20 55931915 55931915 single base substitution G C intron_variant LUSC-KR 20 55936275 55936275 single base substitution A T downstream_gene_variant LUSC-KR 20 55936275 55936275 single base substitution A T intron_variant LUSC-KR 20 55943454 55943454 single base substitution G T downstream_gene_variant LUSC-KR 20 55943454 55943454 single base substitution G T intron_variant LUSC-KR 20 55943454 55943454 single base substitution G T upstream_gene_variant LUSC-KR 20 55944150 55944150 single base substitution G C downstream_gene_variant LUSC-KR 20 55944150 55944150 single base substitution G C intron_variant LUSC-KR 20 55944150 55944150 single base substitution G C upstream_gene_variant LUSC-KR 20 55952516 55952516 single base substitution G T downstream_gene_variant LUSC-KR 20 55952516 55952516 single base substitution G T intron_variant LUSC-KR 20 55953553 55953553 single base substitution C T 3_prime_UTR_variant LUSC-KR 20 55953553 55953553 single base substitution C T downstream_gene_variant LUSC-KR 20 55959216 55959216 single base substitution G T downstream_gene_variant LUSC-US 20 55943782 55943782 single base substitution G C downstream_gene_variant LUSC-US 20 55943782 55943782 single base substitution G C exon_variant LUSC-US 20 55943782 55943782 single base substitution G C missense_variant A186P 556G>C LUSC-US 20 55943782 55943782 single base substitution G C upstream_gene_variant LUSC-US 20 55948590 55948590 single base substitution A T exon_variant LUSC-US 20 55948590 55948590 single base substitution A T intron_variant LUSC-US 20 55948590 55948590 single base substitution A T synonymous_variant G234G 702A>T LUSC-US 20 55953067 55953067 single base substitution A G downstream_gene_variant LUSC-US 20 55953067 55953067 single base substitution A G splice_acceptor_variant MALY-DE 20 55923071 55923071 single base substitution A C upstream_gene_variant MALY-DE 20 55924482 55924482 single base substitution G A upstream_gene_variant MALY-DE 20 55925632 55925632 single base substitution G A upstream_gene_variant MALY-DE 20 55926958 55926958 single base substitution C T 5_prime_UTR_variant MALY-DE 20 55926958 55926958 single base substitution C T intron_variant MALY-DE 20 55942248 55942248 single base substitution T G downstream_gene_variant MALY-DE 20 55942248 55942248 single base substitution T G intron_variant MALY-DE 20 55942248 55942248 single base substitution T G upstream_gene_variant MALY-DE 20 55943034 55943034 single base substitution C T downstream_gene_variant MALY-DE 20 55943034 55943034 single base substitution C T intron_variant MALY-DE 20 55943034 55943034 single base substitution C T upstream_gene_variant MALY-DE 20 55946439 55946439 single base substitution C T downstream_gene_variant MALY-DE 20 55946439 55946439 single base substitution C T exon_variant MALY-DE 20 55946439 55946439 single base substitution C T intron_variant MALY-DE 20 55946880 55946880 single base substitution G C downstream_gene_variant MALY-DE 20 55946880 55946880 single base substitution G C exon_variant MALY-DE 20 55946880 55946880 single base substitution G C intron_variant MALY-DE 20 55947735 55947735 single base substitution A G exon_variant MALY-DE 20 55947735 55947735 single base substitution A G intron_variant MALY-DE 20 55952179 55952179 single base substitution T C downstream_gene_variant MALY-DE 20 55952179 55952179 single base substitution T C intron_variant MALY-DE 20 55957615 55957615 single base substitution G A downstream_gene_variant MALY-DE 20 55958769 55958769 single base substitution G A downstream_gene_variant MELA-AU 20 55921193 55921193 single base substitution G A upstream_gene_variant MELA-AU 20 55921634 55921634 single base substitution C T upstream_gene_variant MELA-AU 20 55921774 55921774 single base substitution G A upstream_gene_variant MELA-AU 20 55921827 55921827 single base substitution G A upstream_gene_variant MELA-AU 20 55921937 55921937 single base substitution G A upstream_gene_variant MELA-AU 20 55921982 55921982 single base substitution C T upstream_gene_variant MELA-AU 20 55922153 55922153 single base substitution G A upstream_gene_variant MELA-AU 20 55922154 55922154 single base substitution G A upstream_gene_variant MELA-AU 20 55922299 55922299 single base substitution A G upstream_gene_variant MELA-AU 20 55922376 55922376 single base substitution C T upstream_gene_variant MELA-AU 20 55922653 55922653 single base substitution G A upstream_gene_variant MELA-AU 20 55922904 55922904 single base substitution A G upstream_gene_variant MELA-AU 20 55923168 55923168 single base substitution T A upstream_gene_variant MELA-AU 20 55923416 55923416 single base substitution G A upstream_gene_variant MELA-AU 20 55923544 55923544 single base substitution G A upstream_gene_variant MELA-AU 20 55923572 55923572 single base substitution G A upstream_gene_variant MELA-AU 20 55923624 55923624 single base substitution C T upstream_gene_variant MELA-AU 20 55923673 55923673 single base substitution C T upstream_gene_variant MELA-AU 20 55923812 55923812 single base substitution G A upstream_gene_variant MELA-AU 20 55923834 55923834 single base substitution C T upstream_gene_variant MELA-AU 20 55923847 55923847 single base substitution C T upstream_gene_variant MELA-AU 20 55923935 55923935 single base substitution G A upstream_gene_variant MELA-AU 20 55924478 55924478 single base substitution C T upstream_gene_variant MELA-AU 20 55924594 55924594 single base substitution G A upstream_gene_variant MELA-AU 20 55924603 55924604 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 55924611 55924611 single base substitution G A upstream_gene_variant MELA-AU 20 55925361 55925361 single base substitution A C upstream_gene_variant MELA-AU 20 55927027 55927027 single base substitution C T 5_prime_UTR_variant MELA-AU 20 55927027 55927027 single base substitution C T intron_variant MELA-AU 20 55928169 55928169 single base substitution G C intron_variant MELA-AU 20 55928576 55928576 single base substitution C T intron_variant MELA-AU 20 55928872 55928872 single base substitution G A intron_variant MELA-AU 20 55929332 55929332 single base substitution C T intron_variant MELA-AU 20 55929557 55929557 single base substitution C T intron_variant MELA-AU 20 55930017 55930017 single base substitution C T intron_variant MELA-AU 20 55930018 55930018 single base substitution C T intron_variant MELA-AU 20 55930137 55930137 single base substitution C T intron_variant MELA-AU 20 55930201 55930201 single base substitution C T intron_variant MELA-AU 20 55931361 55931361 single base substitution C T intron_variant MELA-AU 20 55931462 55931462 single base substitution G A intron_variant MELA-AU 20 55931632 55931632 single base substitution A G downstream_gene_variant MELA-AU 20 55931632 55931632 single base substitution A G intron_variant MELA-AU 20 55931929 55931929 single base substitution G A downstream_gene_variant MELA-AU 20 55931929 55931929 single base substitution G A intron_variant MELA-AU 20 55931953 55931953 single base substitution G A downstream_gene_variant MELA-AU 20 55931953 55931953 single base substitution G A intron_variant MELA-AU 20 55932033 55932036 deletion of <=200bp CCTT - downstream_gene_variant MELA-AU 20 55932033 55932036 deletion of <=200bp CCTT - intron_variant MELA-AU 20 55932796 55932796 single base substitution C T downstream_gene_variant MELA-AU 20 55932796 55932796 single base substitution C T intron_variant MELA-AU 20 55933030 55933030 single base substitution C T downstream_gene_variant MELA-AU 20 55933030 55933030 single base substitution C T intron_variant MELA-AU 20 55933229 55933229 single base substitution G A downstream_gene_variant MELA-AU 20 55933229 55933229 single base substitution G A intron_variant MELA-AU 20 55933467 55933467 single base substitution A G downstream_gene_variant MELA-AU 20 55933467 55933467 single base substitution A G intron_variant MELA-AU 20 55933640 55933640 single base substitution C T downstream_gene_variant MELA-AU 20 55933640 55933640 single base substitution C T intron_variant MELA-AU 20 55933739 55933739 single base substitution C T downstream_gene_variant MELA-AU 20 55933739 55933739 single base substitution C T intron_variant MELA-AU 20 55933871 55933871 single base substitution C T downstream_gene_variant MELA-AU 20 55933871 55933871 single base substitution C T intron_variant MELA-AU 20 55933950 55933950 single base substitution C T downstream_gene_variant MELA-AU 20 55933950 55933950 single base substitution C T intron_variant MELA-AU 20 55934266 55934266 single base substitution T G downstream_gene_variant MELA-AU 20 55934266 55934266 single base substitution T G intron_variant MELA-AU 20 55934377 55934377 single base substitution C T downstream_gene_variant MELA-AU 20 55934377 55934377 single base substitution C T intron_variant MELA-AU 20 55934566 55934567 multiple base substitution (>=2bp and <=200bp) GG TT downstream_gene_variant MELA-AU 20 55934566 55934567 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 20 55935818 55935818 single base substitution C T downstream_gene_variant MELA-AU 20 55935818 55935818 single base substitution C T intron_variant MELA-AU 20 55936362 55936362 single base substitution T C downstream_gene_variant MELA-AU 20 55936362 55936362 single base substitution T C intron_variant MELA-AU 20 55936533 55936533 single base substitution T C downstream_gene_variant MELA-AU 20 55936533 55936533 single base substitution T C intron_variant MELA-AU 20 55937141 55937141 single base substitution T C intron_variant MELA-AU 20 55937227 55937227 single base substitution C T intron_variant MELA-AU 20 55937745 55937745 single base substitution G A intron_variant MELA-AU 20 55938502 55938502 single base substitution G A intron_variant MELA-AU 20 55939095 55939096 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 55939327 55939327 single base substitution C T intron_variant MELA-AU 20 55939763 55939763 single base substitution T C intron_variant MELA-AU 20 55940398 55940398 single base substitution C T intron_variant MELA-AU 20 55940790 55940790 single base substitution C T intron_variant MELA-AU 20 55941151 55941151 single base substitution T C intron_variant MELA-AU 20 55941343 55941343 single base substitution C T intron_variant MELA-AU 20 55941343 55941343 single base substitution C T upstream_gene_variant MELA-AU 20 55942489 55942489 single base substitution C T downstream_gene_variant MELA-AU 20 55942489 55942489 single base substitution C T intron_variant MELA-AU 20 55942489 55942489 single base substitution C T upstream_gene_variant MELA-AU 20 55942514 55942514 single base substitution C T downstream_gene_variant MELA-AU 20 55942514 55942514 single base substitution C T intron_variant MELA-AU 20 55942514 55942514 single base substitution C T upstream_gene_variant MELA-AU 20 55942937 55942937 single base substitution C T downstream_gene_variant MELA-AU 20 55942937 55942937 single base substitution C T intron_variant MELA-AU 20 55942937 55942937 single base substitution C T upstream_gene_variant MELA-AU 20 55943275 55943275 single base substitution G A downstream_gene_variant MELA-AU 20 55943275 55943275 single base substitution G A intron_variant MELA-AU 20 55943275 55943275 single base substitution G A upstream_gene_variant MELA-AU 20 55943577 55943577 single base substitution G A downstream_gene_variant MELA-AU 20 55943577 55943577 single base substitution G A intron_variant MELA-AU 20 55943577 55943577 single base substitution G A upstream_gene_variant MELA-AU 20 55943579 55943579 single base substitution C T downstream_gene_variant MELA-AU 20 55943579 55943579 single base substitution C T intron_variant MELA-AU 20 55943579 55943579 single base substitution C T upstream_gene_variant MELA-AU 20 55944322 55944322 single base substitution C T downstream_gene_variant MELA-AU 20 55944322 55944322 single base substitution C T intron_variant MELA-AU 20 55944322 55944322 single base substitution C T upstream_gene_variant MELA-AU 20 55944659 55944659 single base substitution C T downstream_gene_variant MELA-AU 20 55944659 55944659 single base substitution C T intron_variant MELA-AU 20 55944659 55944659 single base substitution C T upstream_gene_variant MELA-AU 20 55945159 55945159 single base substitution C T downstream_gene_variant MELA-AU 20 55945159 55945159 single base substitution C T intron_variant MELA-AU 20 55945159 55945159 single base substitution C T upstream_gene_variant MELA-AU 20 55945414 55945414 single base substitution C T downstream_gene_variant MELA-AU 20 55945414 55945414 single base substitution C T intron_variant MELA-AU 20 55945414 55945414 single base substitution C T upstream_gene_variant MELA-AU 20 55945830 55945830 single base substitution C T downstream_gene_variant MELA-AU 20 55945830 55945830 single base substitution C T intron_variant MELA-AU 20 55945830 55945830 single base substitution C T upstream_gene_variant MELA-AU 20 55946104 55946104 single base substitution C T downstream_gene_variant MELA-AU 20 55946104 55946104 single base substitution C T intron_variant MELA-AU 20 55946104 55946104 single base substitution C T upstream_gene_variant MELA-AU 20 55946141 55946141 single base substitution C T downstream_gene_variant MELA-AU 20 55946141 55946141 single base substitution C T intron_variant MELA-AU 20 55946141 55946141 single base substitution C T upstream_gene_variant MELA-AU 20 55947092 55947092 single base substitution C T exon_variant MELA-AU 20 55947092 55947092 single base substitution C T intron_variant MELA-AU 20 55947098 55947098 single base substitution C T exon_variant MELA-AU 20 55947098 55947098 single base substitution C T intron_variant MELA-AU 20 55947274 55947274 single base substitution C T exon_variant MELA-AU 20 55947274 55947274 single base substitution C T intron_variant MELA-AU 20 55947345 55947345 single base substitution C T exon_variant MELA-AU 20 55947345 55947345 single base substitution C T intron_variant MELA-AU 20 55947698 55947698 single base substitution A G exon_variant MELA-AU 20 55947698 55947698 single base substitution A G intron_variant MELA-AU 20 55948405 55948405 single base substitution C T exon_variant MELA-AU 20 55948405 55948405 single base substitution C T intron_variant MELA-AU 20 55948888 55948888 single base substitution G C intron_variant MELA-AU 20 55949040 55949040 single base substitution C T intron_variant MELA-AU 20 55949223 55949223 single base substitution A T intron_variant MELA-AU 20 55949417 55949417 single base substitution C T intron_variant MELA-AU 20 55950108 55950108 single base substitution C T intron_variant MELA-AU 20 55950108 55950108 single base substitution C T missense_variant S424F 1271C>T MELA-AU 20 55950199 55950199 single base substitution T C downstream_gene_variant MELA-AU 20 55950199 55950199 single base substitution T C intron_variant MELA-AU 20 55950207 55950207 single base substitution T C downstream_gene_variant MELA-AU 20 55950207 55950207 single base substitution T C intron_variant MELA-AU 20 55950650 55950650 single base substitution C T downstream_gene_variant MELA-AU 20 55950650 55950650 single base substitution C T intron_variant MELA-AU 20 55950852 55950852 single base substitution C T downstream_gene_variant MELA-AU 20 55950852 55950852 single base substitution C T intron_variant MELA-AU 20 55951111 55951111 single base substitution C T downstream_gene_variant MELA-AU 20 55951111 55951111 single base substitution C T intron_variant MELA-AU 20 55951549 55951549 single base substitution C T downstream_gene_variant MELA-AU 20 55951549 55951549 single base substitution C T intron_variant MELA-AU 20 55951834 55951834 single base substitution C T downstream_gene_variant MELA-AU 20 55951834 55951834 single base substitution C T intron_variant MELA-AU 20 55952012 55952012 single base substitution T C downstream_gene_variant MELA-AU 20 55952012 55952012 single base substitution T C intron_variant MELA-AU 20 55952074 55952074 single base substitution C T downstream_gene_variant MELA-AU 20 55952074 55952074 single base substitution C T intron_variant MELA-AU 20 55952326 55952326 single base substitution C T downstream_gene_variant MELA-AU 20 55952326 55952326 single base substitution C T intron_variant MELA-AU 20 55952549 55952549 single base substitution C T downstream_gene_variant MELA-AU 20 55952549 55952549 single base substitution C T intron_variant MELA-AU 20 55953269 55953269 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55953269 55953269 single base substitution C T downstream_gene_variant MELA-AU 20 55953269 55953269 single base substitution C T exon_variant MELA-AU 20 55953274 55953274 single base substitution G A 3_prime_UTR_variant MELA-AU 20 55953274 55953274 single base substitution G A downstream_gene_variant MELA-AU 20 55953274 55953274 single base substitution G A exon_variant MELA-AU 20 55953733 55953733 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55953733 55953733 single base substitution C T downstream_gene_variant MELA-AU 20 55953763 55953763 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55953763 55953763 single base substitution C T downstream_gene_variant MELA-AU 20 55954336 55954336 single base substitution T C downstream_gene_variant MELA-AU 20 55954375 55954375 single base substitution T C downstream_gene_variant MELA-AU 20 55954436 55954436 single base substitution T C downstream_gene_variant MELA-AU 20 55954480 55954480 single base substitution C T downstream_gene_variant MELA-AU 20 55954501 55954502 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 20 55955709 55955709 single base substitution C T downstream_gene_variant MELA-AU 20 55955844 55955844 single base substitution C T downstream_gene_variant MELA-AU 20 55955948 55955948 single base substitution C T downstream_gene_variant MELA-AU 20 55956029 55956029 single base substitution C T downstream_gene_variant MELA-AU 20 55956436 55956436 single base substitution C G downstream_gene_variant MELA-AU 20 55957231 55957231 single base substitution C T downstream_gene_variant MELA-AU 20 55957413 55957413 single base substitution C T downstream_gene_variant MELA-AU 20 55958876 55958876 single base substitution G A downstream_gene_variant MELA-AU 20 55959020 55959020 single base substitution G A downstream_gene_variant MELA-AU 20 55959131 55959131 single base substitution C T downstream_gene_variant MELA-AU 20 55959140 55959140 single base substitution C A downstream_gene_variant MELA-AU 20 55959210 55959210 single base substitution T C downstream_gene_variant OV-AU 20 55929812 55929812 single base substitution G A exon_variant OV-AU 20 55929812 55929812 single base substitution G A synonymous_variant L45L 135G>A OV-AU 20 55947927 55947927 single base substitution T G exon_variant OV-AU 20 55947927 55947927 single base substitution T G intron_variant OV-AU 20 55952452 55952452 single base substitution G T downstream_gene_variant OV-AU 20 55952452 55952452 single base substitution G T intron_variant OV-AU 20 55955187 55955187 single base substitution C T downstream_gene_variant OV-AU 20 55955605 55955605 single base substitution C T downstream_gene_variant OV-AU 20 55958413 55958413 single base substitution C G downstream_gene_variant PACA-AU 20 55922461 55922461 single base substitution A T upstream_gene_variant PACA-AU 20 55924379 55924379 single base substitution G A upstream_gene_variant PACA-AU 20 55927867 55927867 single base substitution G A intron_variant PACA-AU 20 55927917 55927917 single base substitution G A intron_variant PACA-AU 20 55930494 55930494 single base substitution G A intron_variant PACA-AU 20 55931327 55931327 single base substitution G A intron_variant PACA-AU 20 55931978 55931978 single base substitution C T downstream_gene_variant PACA-AU 20 55931978 55931978 single base substitution C T intron_variant PACA-AU 20 55933736 55933736 single base substitution A T downstream_gene_variant PACA-AU 20 55933736 55933736 single base substitution A T intron_variant PACA-AU 20 55938099 55938099 single base substitution A G intron_variant PACA-AU 20 55940969 55940969 single base substitution G A intron_variant PACA-AU 20 55946467 55946467 single base substitution G A downstream_gene_variant PACA-AU 20 55946467 55946467 single base substitution G A exon_variant PACA-AU 20 55946467 55946467 single base substitution G A intron_variant PACA-AU 20 55953318 55953318 single base substitution G A 3_prime_UTR_variant PACA-AU 20 55953318 55953318 single base substitution G A downstream_gene_variant PACA-AU 20 55953318 55953318 single base substitution G A exon_variant PACA-AU 20 55953500 55953500 insertion of <=200bp - T 3_prime_UTR_variant PACA-AU 20 55953500 55953500 insertion of <=200bp - T downstream_gene_variant PACA-AU 20 55953500 55953500 insertion of <=200bp - T exon_variant PACA-AU 20 55953504 55953504 single base substitution G A 3_prime_UTR_variant PACA-AU 20 55953504 55953504 single base substitution G A downstream_gene_variant PACA-AU 20 55953504 55953504 single base substitution G A exon_variant PACA-AU 20 55956399 55956399 single base substitution G A downstream_gene_variant PACA-CA 20 55921309 55921309 single base substitution T G upstream_gene_variant PACA-CA 20 55923837 55923837 single base substitution G A upstream_gene_variant PACA-CA 20 55923880 55923880 single base substitution C T upstream_gene_variant PACA-CA 20 55924837 55924837 single base substitution C T upstream_gene_variant PACA-CA 20 55929497 55929497 single base substitution G A intron_variant PACA-CA 20 55929914 55929914 single base substitution T G intron_variant PACA-CA 20 55934237 55934237 single base substitution G A downstream_gene_variant PACA-CA 20 55934237 55934237 single base substitution G A intron_variant PACA-CA 20 55934321 55934321 single base substitution C T downstream_gene_variant PACA-CA 20 55934321 55934321 single base substitution C T intron_variant PACA-CA 20 55936308 55936308 single base substitution G C downstream_gene_variant PACA-CA 20 55936308 55936308 single base substitution G C intron_variant PACA-CA 20 55937024 55937024 single base substitution G A intron_variant PACA-CA 20 55938568 55938568 deletion of <=200bp A - intron_variant PACA-CA 20 55939024 55939024 single base substitution A G intron_variant PACA-CA 20 55942169 55942169 single base substitution A T downstream_gene_variant PACA-CA 20 55942169 55942169 single base substitution A T intron_variant PACA-CA 20 55942169 55942169 single base substitution A T upstream_gene_variant PACA-CA 20 55943425 55943425 single base substitution G C downstream_gene_variant PACA-CA 20 55943425 55943425 single base substitution G C intron_variant PACA-CA 20 55943425 55943425 single base substitution G C upstream_gene_variant PACA-CA 20 55943509 55943509 single base substitution A G downstream_gene_variant PACA-CA 20 55943509 55943509 single base substitution A G intron_variant PACA-CA 20 55943509 55943509 single base substitution A G upstream_gene_variant PACA-CA 20 55943791 55943791 single base substitution G A downstream_gene_variant PACA-CA 20 55943791 55943791 single base substitution G A exon_variant PACA-CA 20 55943791 55943791 single base substitution G A missense_variant E189K 565G>A PACA-CA 20 55943791 55943791 single base substitution G A upstream_gene_variant PACA-CA 20 55946087 55946087 single base substitution A C downstream_gene_variant PACA-CA 20 55946087 55946087 single base substitution A C intron_variant PACA-CA 20 55946087 55946087 single base substitution A C upstream_gene_variant PACA-CA 20 55948174 55948174 single base substitution A T exon_variant PACA-CA 20 55948174 55948174 single base substitution A T intron_variant PACA-CA 20 55953089 55953089 single base substitution C G 3_prime_UTR_variant PACA-CA 20 55953089 55953089 single base substitution C G downstream_gene_variant PACA-CA 20 55953089 55953089 single base substitution C G exon_variant PACA-CA 20 55953089 55953089 single base substitution C G synonymous_variant P347P 1041C>G PACA-CA 20 55953152 55953152 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 20 55953152 55953152 deletion of <=200bp G - downstream_gene_variant PACA-CA 20 55953152 55953152 deletion of <=200bp G - exon_variant PACA-CA 20 55953152 55953152 deletion of <=200bp G - frameshift_variant K368 PACA-CA 20 55953555 55953555 single base substitution T C 3_prime_UTR_variant PACA-CA 20 55953555 55953555 single base substitution T C downstream_gene_variant PACA-CA 20 55953653 55953653 single base substitution A G 3_prime_UTR_variant PACA-CA 20 55953653 55953653 single base substitution A G downstream_gene_variant PACA-CA 20 55954015 55954015 single base substitution T C 3_prime_UTR_variant PACA-CA 20 55954015 55954015 single base substitution T C downstream_gene_variant PACA-CA 20 55954591 55954591 single base substitution C T downstream_gene_variant PAEN-IT 20 55921604 55921604 single base substitution A C upstream_gene_variant PAEN-IT 20 55926463 55926463 single base substitution G A 5_prime_UTR_variant PAEN-IT 20 55926463 55926463 single base substitution G A intron_variant PAEN-IT 20 55926463 55926463 single base substitution G A upstream_gene_variant PBCA-DE 20 55922541 55922541 single base substitution G A upstream_gene_variant PBCA-DE 20 55923323 55923323 single base substitution A C upstream_gene_variant PBCA-DE 20 55936145 55936145 insertion of <=200bp - AGAA downstream_gene_variant PBCA-DE 20 55936145 55936145 insertion of <=200bp - AGAA intron_variant PRAD-CA 20 55924479 55924479 single base substitution G A upstream_gene_variant PRAD-UK 20 55936253 55936253 single base substitution A G downstream_gene_variant PRAD-UK 20 55936253 55936253 single base substitution A G intron_variant PRAD-UK 20 55952864 55952864 single base substitution G A downstream_gene_variant PRAD-UK 20 55952864 55952864 single base substitution G A intron_variant PRAD-US 20 55948566 55948566 single base substitution C G exon_variant PRAD-US 20 55948566 55948566 single base substitution C G intron_variant PRAD-US 20 55948566 55948566 single base substitution C G missense_variant N226K 678C>G PRAD-US 20 55948583 55948583 single base substitution C T exon_variant PRAD-US 20 55948583 55948583 single base substitution C T intron_variant PRAD-US 20 55948583 55948583 single base substitution C T missense_variant A232V 695C>T RECA-EU 20 55924577 55924577 single base substitution C T upstream_gene_variant RECA-EU 20 55929957 55929957 single base substitution A T intron_variant RECA-EU 20 55941053 55941053 single base substitution C G intron_variant RECA-EU 20 55946186 55946186 single base substitution T C downstream_gene_variant RECA-EU 20 55946186 55946186 single base substitution T C intron_variant RECA-EU 20 55946186 55946186 single base substitution T C upstream_gene_variant SKCA-BR 20 55921875 55921875 single base substitution A G upstream_gene_variant SKCA-BR 20 55923019 55923019 single base substitution G A upstream_gene_variant SKCA-BR 20 55928826 55928826 single base substitution C T intron_variant SKCA-BR 20 55928893 55928893 single base substitution C T intron_variant SKCA-BR 20 55929632 55929632 single base substitution A G intron_variant SKCA-BR 20 55930586 55930586 single base substitution T C intron_variant SKCA-BR 20 55931958 55931958 single base substitution A G downstream_gene_variant SKCA-BR 20 55931958 55931958 single base substitution A G intron_variant SKCA-BR 20 55932015 55932015 single base substitution A C downstream_gene_variant SKCA-BR 20 55932015 55932015 single base substitution A C intron_variant SKCA-BR 20 55934241 55934241 single base substitution T G downstream_gene_variant SKCA-BR 20 55934241 55934241 single base substitution T G intron_variant SKCA-BR 20 55934271 55934271 single base substitution G T downstream_gene_variant SKCA-BR 20 55934271 55934271 single base substitution G T intron_variant SKCA-BR 20 55937397 55937397 single base substitution A G intron_variant SKCA-BR 20 55941449 55941449 single base substitution C T intron_variant SKCA-BR 20 55941449 55941449 single base substitution C T upstream_gene_variant SKCA-BR 20 55941648 55941648 single base substitution C T intron_variant SKCA-BR 20 55941648 55941648 single base substitution C T upstream_gene_variant SKCA-BR 20 55945887 55945887 single base substitution G A downstream_gene_variant SKCA-BR 20 55945887 55945887 single base substitution G A intron_variant SKCA-BR 20 55945887 55945887 single base substitution G A upstream_gene_variant SKCA-BR 20 55949698 55949698 single base substitution C A 3_prime_UTR_variant SKCA-BR 20 55949698 55949698 single base substitution C A exon_variant SKCA-BR 20 55949698 55949698 single base substitution C A synonymous_variant T287T 861C>A SKCA-BR 20 55949955 55949955 single base substitution C T intron_variant SKCA-BR 20 55949955 55949955 single base substitution C T missense_variant S373L 1118C>T SKCA-BR 20 55951450 55951450 single base substitution C T downstream_gene_variant SKCA-BR 20 55951450 55951450 single base substitution C T intron_variant SKCA-BR 20 55951568 55951568 single base substitution C T downstream_gene_variant SKCA-BR 20 55951568 55951568 single base substitution C T intron_variant SKCA-BR 20 55952515 55952515 single base substitution C T downstream_gene_variant SKCA-BR 20 55952515 55952515 single base substitution C T intron_variant SKCA-BR 20 55953163 55953163 single base substitution A G 3_prime_UTR_variant SKCA-BR 20 55953163 55953163 single base substitution A G downstream_gene_variant SKCA-BR 20 55953163 55953163 single base substitution A G exon_variant SKCA-BR 20 55956929 55956929 single base substitution G A downstream_gene_variant SKCM-US 20 55948608 55948608 single base substitution T C exon_variant SKCM-US 20 55948608 55948608 single base substitution T C intron_variant SKCM-US 20 55948608 55948608 single base substitution T C synonymous_variant V240V 720T>C SKCM-US 20 55953129 55953129 single base substitution G A 3_prime_UTR_variant SKCM-US 20 55953129 55953129 single base substitution G A downstream_gene_variant SKCM-US 20 55953129 55953129 single base substitution G A exon_variant SKCM-US 20 55953129 55953129 single base substitution G A missense_variant E361K 1081G>A STAD-US 20 55931555 55931555 single base substitution G C exon_variant STAD-US 20 55931555 55931555 single base substitution G C missense_variant Q83H 249G>C STAD-US 20 55942112 55942112 single base substitution G A downstream_gene_variant STAD-US 20 55942112 55942112 single base substitution G A exon_variant STAD-US 20 55942112 55942112 single base substitution G A missense_variant E171K 511G>A STAD-US 20 55942112 55942112 single base substitution G A upstream_gene_variant STAD-US 20 55948568 55948568 single base substitution A C exon_variant STAD-US 20 55948568 55948568 single base substitution A C intron_variant STAD-US 20 55948568 55948568 single base substitution A C missense_variant K227T 680A>C STAD-US 20 55948793 55948793 single base substitution C T missense_variant A275V 824C>T STAD-US 20 55948793 55948793 single base substitution C T splice_region_variant STAD-US 20 55949675 55949675 single base substitution G A 3_prime_UTR_variant STAD-US 20 55949675 55949675 single base substitution G A exon_variant STAD-US 20 55949675 55949675 single base substitution G A missense_variant A280T 838G>A STAD-US 20 55949845 55949845 single base substitution C T 3_prime_UTR_variant STAD-US 20 55949845 55949845 single base substitution C T exon_variant STAD-US 20 55949845 55949845 single base substitution C T synonymous_variant Y336Y 1008C>T UCEC-US 20 55929873 55929873 single base substitution G T splice_donor_variant UCEC-US 20 55940431 55940431 single base substitution C T exon_variant UCEC-US 20 55940431 55940431 single base substitution C T missense_variant T103M 308C>T UCEC-US 20 55940437 55940437 single base substitution C T exon_variant UCEC-US 20 55940437 55940437 single base substitution C T missense_variant S105L 314C>T UCEC-US 20 55940493 55940493 single base substitution G A exon_variant UCEC-US 20 55940493 55940493 single base substitution G A missense_variant A124T 370G>A UCEC-US 20 55941915 55941915 single base substitution G A downstream_gene_variant UCEC-US 20 55941915 55941915 single base substitution G A exon_variant UCEC-US 20 55941915 55941915 single base substitution G A missense_variant C143Y 428G>A UCEC-US 20 55941915 55941915 single base substitution G A upstream_gene_variant UCEC-US 20 55941931 55941931 single base substitution C T downstream_gene_variant UCEC-US 20 55941931 55941931 single base substitution C T exon_variant UCEC-US 20 55941931 55941931 single base substitution C T synonymous_variant S148S 444C>T UCEC-US 20 55941931 55941931 single base substitution C T upstream_gene_variant UCEC-US 20 55941950 55941950 single base substitution G T downstream_gene_variant UCEC-US 20 55941950 55941950 single base substitution G T splice_donor_variant UCEC-US 20 55941950 55941950 single base substitution G T upstream_gene_variant UCEC-US 20 55948638 55948638 single base substitution G T exon_variant UCEC-US 20 55948638 55948638 single base substitution G T intron_variant UCEC-US 20 55948638 55948638 single base substitution G T splice_donor_variant UCEC-US 20 55948729 55948729 single base substitution A G exon_variant UCEC-US 20 55948729 55948729 single base substitution A G missense_variant N254D 760A>G UCEC-US 20 55948793 55948793 single base substitution C T missense_variant A275V 824C>T UCEC-US 20 55948793 55948793 single base substitution C T splice_region_variant UCEC-US 20 55949675 55949675 single base substitution G A 3_prime_UTR_variant UCEC-US 20 55949675 55949675 single base substitution G A exon_variant UCEC-US 20 55949675 55949675 single base substitution G A missense_variant A280T 838G>A UCEC-US 20 55949834 55949834 single base substitution G A 3_prime_UTR_variant UCEC-US 20 55949834 55949834 single base substitution G A exon_variant UCEC-US 20 55949834 55949834 single base substitution G A missense_variant A333T 997G>A UCEC-US 20 55953108 55953108 single base substitution T G 3_prime_UTR_variant UCEC-US 20 55953108 55953108 single base substitution T G downstream_gene_variant UCEC-US 20 55953108 55953108 single base substitution T G exon_variant UCEC-US 20 55953108 55953108 single base substitution T G missense_variant F354V 1060T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A15V-01 COSM1028349 c.195+1G>T p.? Unknown 20:57354817-57354817 + YUKAE COSM5392385 c.740C>T p.P247L Substitution - Missense 20:57373572-57373572 + T578 COSM4720019 c.646C>T p.R216W Substitution - Missense 20:57373478-57373478 + HCT116 COSM1028354 c.444C>T p.S148S Substitution - coding silent 20:57366875-57366875 + TCGA-CH-5789-01 COSM1130598 c.695C>T p.A232V Substitution - Missense 20:57373527-57373527 + AOCS-139-1-5 COSM4137067 c.135G>A p.L45L Substitution - coding silent 20:57354756-57354756 + YUKAT COSM3548088 c.1081G>A p.E361K Substitution - Missense 20:57378073-57378073 + T3080 COSM4720018 c.315delG p.C106fs*39 Deletion - Frameshift 20:57365382-57365382 + TCGA-CH-5762-01 COSM1130599 c.678C>G p.N226K Substitution - Missense 20:57373510-57373510 + TCGA-DM-A1DA-01 COSM1412669 c.41G>A p.G14E Substitution - Missense 20:57354079-57354079 + TCGA-FD-A3B4-01 COSM1307540 c.749C>T p.P250L Substitution - Missense 20:57373581-57373581 + TCGA-BS-A0UF-01 COSM1028360 c.997G>A p.A333T Substitution - Missense 20:57374778-57374778 + TCGA-HU-A4GD-01 COSM4099708 c.1008C>T p.Y336Y Substitution - coding silent 20:57374789-57374789 + LAU50_1 COSM233230 c.136T>C p.S46P Substitution - Missense 20:57354757-57354757 + PD8973a COSM5792244 c.1021-8C>G p.? Unknown 20:57378005-57378005 + TCGA-A6-6780-01 COSM1412670 c.91-2A>G p.? Unknown 20:57354710-57354710 + 255 COSM1412671 c.738delC p.P248fs*29 Deletion - Frameshift 20:57373570-57373570 + LUAD-NYU847 COSM376777 c.289-1G>T p.? Unknown 20:57365355-57365355 + 587358 COSM1223033 c.388G>A p.V130I Substitution - Missense 20:57366819-57366819 + TCGA-EE-A2GC-06 COSM3548088 c.1081G>A p.E361K Substitution - Missense 20:57378073-57378073 + 587342 COSM1223034 c.812A>G p.Q271R Substitution - Missense 20:57373725-57373725 + SNU-175 COSM2764265 c.83C>T p.P28L Substitution - Missense 20:57354121-57354121 + TCGA-EE-A29D-06 COSM3548087 c.720T>C p.V240V Substitution - coding silent 20:57373552-57373552 + Pat_01_B COSM5858168 c.709G>A p.E237K Substitution - Missense 20:57373541-57373541 + 01-P034 COSM4099708 c.1008C>T p.Y336Y Substitution - coding silent 20:57374789-57374789 + TCGA-B5-A0JV-01 COSM1028356 c.744G>A p.P248P Substitution - coding silent 20:57373576-57373576 + TCGA-AP-A056-01 COSM1028358 c.760A>G p.N254D Substitution - Missense 20:57373673-57373673 + AOCS-139-19-0 COSM4137067 c.135G>A p.L45L Substitution - coding silent 20:57354756-57354756 + AOCS-139-6-3 COSM4137067 c.135G>A p.L45L Substitution - coding silent 20:57354756-57354756 + TCGA-AQ-A04H-01 COSM444089 c.1067G>A p.R356H Substitution - Missense 20:57378059-57378059 + SNUH_G73_S1 COSM4415171 c.375+4A>G p.? Unknown 20:57365446-57365446 + TCGA-B5-A11J-01 COSM1028352 c.370G>A p.A124T Substitution - Missense 20:57365437-57365437 + TCGA-DK-A2I4-01 COSM3799691 c.980G>A p.G327E Substitution - Missense 20:57374761-57374761 + TCGA-AA-A010-01 COSM284451 c.90+8G>A p.? Unknown 20:57354136-57354136 + LUAD-NYU947 COSM377060 c.1027G>A p.E343K Substitution - Missense 20:57378019-57378019 + TCGA-BR-8297-01 COSM4099705 c.249G>C p.Q83H Substitution - Missense 20:57356499-57356499 + TCGA-BS-A0UV-01 COSM1028355 c.462+1G>T p.? Unknown 20:57366894-57366894 + TCGA-34-5236-01 COSM724077 c.702A>T p.G234G Substitution - coding silent 20:57373534-57373534 + TCGA-AX-A0J1-01 COSM1028353 c.428G>A p.C143Y Substitution - Missense 20:57366859-57366859 + T3090 COSM4720021 c.1038T>A p.N346K Substitution - Missense 20:57378030-57378030 + ME100L COSM231434 c.607G>A p.E203K Substitution - Missense 20:57368777-57368777 + PD24194a COSM5784707 c.3G>C p.M1I Substitution - Missense 20:57354041-57354041 + 6T COSM3734383 c.989T>A p.F330Y Substitution - Missense 20:57374770-57374770 + ESO-0015 COSM1263744 c.159G>A p.P53P Substitution - coding silent 20:57354780-57354780 + TCGA-BG-A18C-01 COSM1028362 c.1100A>C p.K367T Substitution - Missense 20:57378092-57378092 + TCGA-BS-A0UF-01 COSM1028361 c.1060T>G p.F354V Substitution - Missense 20:57378052-57378052 + TCGA-GD-A3OQ-01 COSM1307539 c.118G>A p.D40N Substitution - Missense 20:57354739-57354739 + TCGA-D1-A160-01 COSM1028357 c.749+1G>T p.? Unknown 20:57373582-57373582 + T3724 COSM1412671 c.738delC p.P248fs*29 Deletion - Frameshift 20:57373570-57373570 + TCGA-AG-3574-01 COSM287833 c.743C>T p.P248L Substitution - Missense 20:57373575-57373575 + TCGA-FD-A3B6-01 COSM1307541 c.757G>C p.D253H Substitution - Missense 20:57373670-57373670 + TCGA-AN-A046-01 COSM3841358 c.782G>A p.R261Q Substitution - Missense 20:57373695-57373695 + CSCC-27-T COSM1307540 c.749C>T p.P250L Substitution - Missense 20:57373581-57373581 + WA48 COSM238056 c.42G>C p.G14G Substitution - coding silent 20:57354080-57354080 + PD13306a COSM4099706 c.511G>A p.E171K Substitution - Missense 20:57367056-57367056 + TCGA-EW-A1IZ-01 COSM1028352 c.370G>A p.A124T Substitution - Missense 20:57365437-57365437 + TCGA-D1-A17Q-01 COSM1028350 c.308C>T p.T103M Substitution - Missense 20:57365375-57365375 + TCGA-A6-6652-01 COSM1412671 c.738delC p.P248fs*29 Deletion - Frameshift 20:57373570-57373570 + TCGA-A3-3374-01 COSM1495135 c.463-2A>T p.? Unknown 20:57367006-57367006 + T1743 COSM170520 c.781C>T p.R261* Substitution - Nonsense 20:57373694-57373694 + BCM783T COSM4799461 c.733A>G p.I245V Substitution - Missense 20:57373565-57373565 + LUAD-B01145 COSM333379 c.584A>G p.Y195C Substitution - Missense 20:57368754-57368754 + T407 COSM4720020 c.739C>T p.P247S Substitution - Missense 20:57373571-57373571 + TCGA-BR-8678-01 COSM4099706 c.511G>A p.E171K Substitution - Missense 20:57367056-57367056 + TCGA-A8-A06Z-01 COSM444088 c.971A>G p.N324S Substitution - Missense 20:57374752-57374752 + PD24216a COSM5795134 c.375+10G>A p.? Unknown 20:57365452-57365452 + CHC892T COSM4958803 c.358G>A p.A120T Substitution - Missense 20:57365425-57365425 + 6P2-1 COSM3734383 c.989T>A p.F330Y Substitution - Missense 20:57374770-57374770 + RK096_C01 COSM1632360 c.79A>G p.N27D Substitution - Missense 20:57354117-57354117 + TCGA-A5-A0GH-01 COSM1028359 c.838G>A p.A280T Substitution - Missense 20:57374619-57374619 + LOVO COSM1412672 c.1045delA p.N351fs*12 Deletion - Frameshift 20:57378037-57378037 + BCM783T COSM4799461 c.733A>G p.I245V Substitution - Missense 20:57373565-57373565 + TCGA-B5-A11E-01 COSM1028351 c.314C>T p.S105L Substitution - Missense 20:57365381-57365381 + HCC2998 COSM2764281 c.1046A>C p.K349T Substitution - Missense 20:57378038-57378038 + TCGA-D1-A17D-01 COSM1028354 c.444C>T p.S148S Substitution - coding silent 20:57366875-57366875 + STC252 COSM5057439 c.527C>T p.A176V Substitution - Missense 20:57367072-57367072 + TCGA-EA-A439-01 COSM4843634 c.199C>T p.R67C Substitution - Missense 20:57356449-57356449 + TCGA-37-3789-01 COSM724076 c.1021-2A>G p.? Unknown 20:57378011-57378011 + ACINAR03 COSM1412671 c.738delC p.P248fs*29 Deletion - Frameshift 20:57373570-57373570 + HCT116 COSM1412672 c.1045delA p.N351fs*12 Deletion - Frameshift 20:57378037-57378037 + RKO COSM1412672 c.1045delA p.N351fs*12 Deletion - Frameshift 20:57378037-57378037 + PCSI_0108_Pa_P_526 COSM4962250 c.565G>A p.E189K Substitution - Missense 20:57368735-57368735 + LUAD-B01970 COSM356109 c.484A>C p.N162H Substitution - Missense 20:57367029-57367029 + BK0019 COSM4186178 c.161G>A p.G54E Substitution - Missense 20:57354782-57354782 + CN-AML-CR-41-Dx COSM5427077 c.898T>C p.W300R Substitution - Missense 20:57374679-57374679 + TCGA-BR-4366-01 COSM1028359 c.838G>A p.A280T Substitution - Missense 20:57374619-57374619 + TCGA-24-1850-01 COSM1327550 c.476G>T p.R159L Substitution - Missense 20:57367021-57367021 + 6P2-2 COSM3734383 c.989T>A p.F330Y Substitution - Missense 20:57374770-57374770 + TCGA-BR-8589-01 COSM4099707 c.680A>C p.K227T Substitution - Missense 20:57373512-57373512 + TCGA-AS-3778-01 COSM1495135 c.463-2A>T p.? Unknown 20:57367006-57367006 + T578 COSM2764277 c.825G>A p.A275A Substitution - coding silent 20:57373738-57373738 + TCGA-BR-8078-01 COSM192066 c.824C>T p.A275V Substitution - Missense 20:57373737-57373737 + BD72T COSM1412671 c.738delC p.P248fs*29 Deletion - Frameshift 20:57373570-57373570 + TCGA-A2-A0YJ-01 COSM444087 c.961T>A p.C321S Substitution - Missense 20:57374742-57374742 + TCGA-33-4566-01 COSM724078 c.556G>C p.A186P Substitution - Missense 20:57368726-57368726 + AOCS-139-12-5 COSM4137067 c.135G>A p.L45L Substitution - coding silent 20:57354756-57354756 + TCGA-AX-A064-01 COSM192066 c.824C>T p.A275V Substitution - Missense 20:57373737-57373737 + HCC76T COSM1615751 c.593A>G p.E198G Substitution - Missense 20:57368763-57368763 + Pat_41_B COSM5858167 c.217G>A p.D73N Substitution - Missense 20:57356467-57356467 + CHC892T COSM4958803 c.358G>A p.A120T Substitution - Missense 20:57365425-57365425 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.371698 20q13.31 603343

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1104+229A>C 20 55953381 HC A G Missense p.N324S c.971A>G 20 55949808 BRCA A G Missense p.R296G c.886A>G 20 55949723 CM A G SpliceAcceptorSNV . c.1021-2A>G 20 55953067 LUSC A T Synonymous p.G234G c.702A>T 20 55948590 LUSC C G Missense p.N226K c.678C>G 20 55948566 PRAD C T 5-UTRSNV . c.1-4C>T 20 55929091 CM C T Missense p.A275V c.824C>T 20 55948793 COREAD C T Missense p.A275V c.824C>T 20 55948793 UCEC C T Missense p.P248L c.743C>T 20 55948631 COREAD C T Missense p.P250L c.749C>T 20 55948637 BLCA C T Missense p.S36L c.107C>T 20 55929784 CM C T Synonymous p.F281F c.843C>T 20 55949680 CM C T Synonymous p.S148S c.444C>T 20 55941931 UCEC G A IntronicSNV . c.749+35G>A 20 55948672 CM G A Missense p.A124T c.370G>A 20 55940493 UCEC G A Missense p.A280T c.838G>A 20 55949675 STAD G A Missense p.A280T c.838G>A 20 55949675 UCEC G A Missense p.D40N c.118G>A 20 55929795 BLCA G A Missense p.E361K c.1081G>A 20 55953129 CM G A Missense p.G327E c.980G>A 20 55949817 BLCA G A Missense p.R356H c.1067G>A 20 55953115 BRCA G C Missense p.D253H c.757G>C 20 55948726 BLCA G C Synonymous p.A275A c.825G>C 20 55948794 CM GG AA Missense p.G295N c.883_884delinsAA 20 55949720 CM G T 3-UTRSNV . c.1104+550G>T 20 55953702 HC G T SpliceDonorSNV . c.195+1G>T 20 55929873 UCEC G T SpliceDonorSNV . c.749+1G>T 20 55948638 UCEC T A Missense p.C321S c.961T>A 20 55949798 BRCA T C Synonymous p.F18F c.54T>C 20 55929148 CM