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 2 68368892 68368892 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:68368892C>T c.451G>A c.(451-453)Gat>Aat p.D151N BLCA 2 68358520 68358520 + Silent SNP T T C TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr2:68358520T>C c.924A>G c.(922-924)gcA>gcG p.A308A BRCA 2 68358525 68358525 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr2:68358525C>T c.919G>A c.(919-921)Gtc>Atc p.V307I BRCA 2 68371769 68371769 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:68371769A>C c.363T>G c.(361-363)ggT>ggG p.G121G CESC 2 68358570 68358570 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 g.chr2:68358570G>T c.874C>A c.(874-876)Cct>Act p.P292T CHOL 2 68371715 68371715 + Splice_Site SNP A A C TCGA-W5-AA30-01A-31D-A417-09 TCGA-W5-AA30-10A-01D-A41A-09 g.chr2:68371715A>C c.e3+1 CHOL 2 68371718 68371718 + Splice_Site SNP A A T TCGA-W5-AA30-01A-31D-A417-09 TCGA-W5-AA30-10A-01D-A41A-09 g.chr2:68371718A>T c.414T>A c.(412-414)gaT>gaA p.D138E COAD 2 68358522 68358522 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:68358522C>T c.922G>A c.(922-924)Gca>Aca p.A308T COAD 2 68358539 68358539 + Missense_Mutation SNP C C T TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr2:68358539C>T c.905G>A c.(904-906)gGa>gAa p.G302E COAD 2 68361857 68361857 + Silent SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr2:68361857G>A c.843C>T c.(841-843)gcC>gcT p.A281A COAD 2 68365878 68365878 + Frame_Shift_Del DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:68365878delT c.629delA c.(628-630)aatfs p.N210fs COADREAD 2 68358522 68358522 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:68358522C>T c.922G>A c.(922-924)Gca>Aca p.A308T COADREAD 2 68358539 68358539 + Missense_Mutation SNP C C T TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr2:68358539C>T c.905G>A c.(904-906)gGa>gAa p.G302E COADREAD 2 68361857 68361857 + Silent SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr2:68361857G>A c.843C>T c.(841-843)gcC>gcT p.A281A COADREAD 2 68365878 68365878 + Frame_Shift_Del DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:68365878delT c.629delA c.(628-630)aatfs p.N210fs COADREAD 2 68365960 68365960 + Missense_Mutation SNP C C A TCGA-AG-4008-01A-01W-1073-09 TCGA-AG-4008-10A-01W-1073-09 g.chr2:68365960C>A c.547G>T c.(547-549)Gtt>Ttt p.V183F ESCA 2 68384441 68384441 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 g.chr2:68384441G>T c.135C>A c.(133-135)gtC>gtA p.V45V GBM 2 68358402 68358402 + Missense_Mutation SNP C C G TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr2:68358402C>G c.1042G>C c.(1042-1044)Gta>Cta p.V348L GBMLGG 2 68358402 68358402 + Missense_Mutation SNP C C G TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr2:68358402C>G c.1042G>C c.(1042-1044)Gta>Cta p.V348L GBMLGG 2 68365875 68365875 + Splice_Site SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 g.chr2:68365875C>T c.632G>A c.(631-633)gGg>gAg p.G211E GBMLGG 2 68371826 68371826 + Missense_Mutation SNP C C T TCGA-DH-A66G-01A-21D-A31L-08 TCGA-DH-A66G-10A-01D-A31J-08 g.chr2:68371826C>T c.306G>A c.(304-306)atG>atA p.M102I HNSC 2 68358543 68358543 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr2:68358543C>T c.901G>A c.(901-903)Gag>Aag p.E301K HNSC 2 68361919 68361919 + Missense_Mutation SNP T T C TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr2:68361919T>C c.781A>G c.(781-783)Act>Gct p.T261A HNSC 2 68364552 68364552 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr2:68364552T>A c.647A>T c.(646-648)gAg>gTg p.E216V HNSC 2 68365916 68365916 + Silent SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 g.chr2:68365916G>C c.591C>G c.(589-591)ctC>ctG p.L197L KIPAN 2 68371743 68371743 + Missense_Mutation SNP G G T TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr2:68371743G>T c.389C>A c.(388-390)cCt>cAt p.P130H KIPAN 2 68384457 68384457 + Missense_Mutation SNP G G C TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chr2:68384457G>C c.119C>G c.(118-120)gCa>gGa p.A40G KIRC 2 68371743 68371743 + Missense_Mutation SNP G G T TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr2:68371743G>T c.389C>A c.(388-390)cCt>cAt p.P130H KIRC 2 68384457 68384457 + Missense_Mutation SNP G G C TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chr2:68384457G>C c.119C>G c.(118-120)gCa>gGa p.A40G LGG 2 68365875 68365875 + Splice_Site SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 g.chr2:68365875C>T c.632G>A c.(631-633)gGg>gAg p.G211E LGG 2 68371826 68371826 + Missense_Mutation SNP C C T TCGA-DH-A66G-01A-21D-A31L-08 TCGA-DH-A66G-10A-01D-A31J-08 g.chr2:68371826C>T c.306G>A c.(304-306)atG>atA p.M102I LIHC 2 68365900 68365900 + Missense_Mutation SNP G G A TCGA-K7-A5RG-01A-11D-A28X-10 TCGA-K7-A5RG-10A-01D-A28X-10 g.chr2:68365900G>A c.607C>T c.(607-609)Cgg>Tgg p.R203W LIHC 2 68384452 68384452 + Missense_Mutation SNP C C T TCGA-DD-AACV-01A-11D-A40R-10 TCGA-DD-AACV-10A-01D-A40U-10 g.chr2:68384452C>T c.124G>A c.(124-126)Ggc>Agc p.G42S LUAD 2 68358560 68358560 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 g.chr2:68358560C>T c.884G>A c.(883-885)cGg>cAg p.R295Q LUAD 2 68358578 68358578 + Splice_Site SNP C C A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr2:68358578C>A c.e8-1 LUSC 2 68361898 68361898 + Missense_Mutation SNP G G T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr2:68361898G>T c.802C>A c.(802-804)Ctg>Atg p.L268M PAAD 2 68361924 68361924 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:68361924T>G c.776A>C c.(775-777)aAa>aCa p.K259T READ 2 68365960 68365960 + Missense_Mutation SNP C C A TCGA-AG-4008-01A-01W-1073-09 TCGA-AG-4008-10A-01W-1073-09 g.chr2:68365960C>A c.547G>T c.(547-549)Gtt>Ttt p.V183F SKCM 2 68358422 68358422 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:68358422G>A c.1022C>T c.(1021-1023)tCa>tTa p.S341L SKCM 2 68364490 68364490 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:68364490G>A c.709C>T c.(709-711)Cat>Tat p.H237Y SKCM 2 68364491 68364491 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:68364491G>A c.708C>T c.(706-708)ttC>ttT p.F236F SKCM 2 68368839 68368839 + Nonsense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:68368839C>T c.504G>A c.(502-504)tgG>tgA p.W168* SKCM 2 68368840 68368840 + Nonsense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:68368840C>T c.503G>A c.(502-504)tGg>tAg p.W168*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 2 68346986 68346986 single base substitution C G downstream_gene_variant BRCA-EU 2 68347269 68347269 single base substitution C G downstream_gene_variant BRCA-EU 2 68347465 68347465 single base substitution T C downstream_gene_variant BRCA-EU 2 68348336 68348336 single base substitution C A downstream_gene_variant BRCA-EU 2 68348510 68348510 single base substitution A T downstream_gene_variant BRCA-EU 2 68349090 68349090 single base substitution G C downstream_gene_variant BRCA-EU 2 68350035 68350035 single base substitution C T downstream_gene_variant BRCA-EU 2 68350036 68350036 single base substitution G A downstream_gene_variant BRCA-EU 2 68353286 68353286 single base substitution C G downstream_gene_variant BRCA-EU 2 68353286 68353286 single base substitution C G intron_variant BRCA-EU 2 68353442 68353442 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 68353442 68353442 deletion of <=200bp T - intron_variant BRCA-EU 2 68353920 68353920 single base substitution T C downstream_gene_variant BRCA-EU 2 68353920 68353920 single base substitution T C intron_variant BRCA-EU 2 68354039 68354039 single base substitution G C downstream_gene_variant BRCA-EU 2 68354039 68354039 single base substitution G C intron_variant BRCA-EU 2 68354111 68354111 single base substitution C T downstream_gene_variant BRCA-EU 2 68354111 68354111 single base substitution C T intron_variant BRCA-EU 2 68354299 68354299 single base substitution G A downstream_gene_variant BRCA-EU 2 68354299 68354299 single base substitution G A intron_variant BRCA-EU 2 68354462 68354462 single base substitution A C downstream_gene_variant BRCA-EU 2 68354462 68354462 single base substitution A C intron_variant BRCA-EU 2 68354672 68354672 insertion of <=200bp - CA downstream_gene_variant BRCA-EU 2 68354672 68354672 insertion of <=200bp - CA intron_variant BRCA-EU 2 68355044 68355044 single base substitution A G downstream_gene_variant BRCA-EU 2 68355044 68355044 single base substitution A G intron_variant BRCA-EU 2 68355217 68355217 single base substitution T C downstream_gene_variant BRCA-EU 2 68355217 68355217 single base substitution T C intron_variant BRCA-EU 2 68356452 68356452 single base substitution A C downstream_gene_variant BRCA-EU 2 68356452 68356452 single base substitution A C intron_variant BRCA-EU 2 68357406 68357406 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 68357406 68357406 single base substitution G A downstream_gene_variant BRCA-EU 2 68357406 68357406 single base substitution G A intron_variant BRCA-EU 2 68357448 68357448 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 68357448 68357448 single base substitution G C downstream_gene_variant BRCA-EU 2 68357448 68357448 single base substitution G C intron_variant BRCA-EU 2 68359610 68359610 single base substitution C G downstream_gene_variant BRCA-EU 2 68359610 68359610 single base substitution C G intron_variant BRCA-EU 2 68361981 68361981 single base substitution T A intron_variant BRCA-EU 2 68363989 68363989 single base substitution T C intron_variant BRCA-EU 2 68365696 68365696 single base substitution G A intron_variant BRCA-EU 2 68366714 68366714 single base substitution G A intron_variant BRCA-EU 2 68366714 68366714 single base substitution G A upstream_gene_variant BRCA-EU 2 68367114 68367119 deletion of <=200bp TGTTGC - intron_variant BRCA-EU 2 68367114 68367119 deletion of <=200bp TGTTGC - upstream_gene_variant BRCA-EU 2 68368930 68368930 single base substitution G A splice_region_variant BRCA-EU 2 68368930 68368930 single base substitution G A upstream_gene_variant BRCA-EU 2 68369432 68369432 single base substitution G A intron_variant BRCA-EU 2 68369432 68369432 single base substitution G A upstream_gene_variant BRCA-EU 2 68369557 68369557 single base substitution T A intron_variant BRCA-EU 2 68369557 68369557 single base substitution T A upstream_gene_variant BRCA-EU 2 68370918 68370918 single base substitution G A downstream_gene_variant BRCA-EU 2 68370918 68370918 single base substitution G A intron_variant BRCA-EU 2 68371749 68371749 single base substitution C A downstream_gene_variant BRCA-EU 2 68371749 68371749 single base substitution C A exon_variant BRCA-EU 2 68371749 68371749 single base substitution C A missense_variant G128V 383G>T BRCA-EU 2 68371749 68371749 single base substitution C A missense_variant G27V 80G>T BRCA-EU 2 68372052 68372052 single base substitution C A downstream_gene_variant BRCA-EU 2 68372052 68372052 single base substitution C A intron_variant BRCA-EU 2 68376399 68376399 single base substitution C T intron_variant BRCA-EU 2 68378611 68378611 single base substitution C G intron_variant BRCA-EU 2 68380116 68380116 deletion of <=200bp T - intron_variant BRCA-EU 2 68381570 68381570 single base substitution G T intron_variant BRCA-EU 2 68381769 68381770 deletion of <=200bp AT - intron_variant BRCA-EU 2 68383178 68383178 single base substitution G A intron_variant BRCA-EU 2 68383471 68383471 single base substitution T C intron_variant BRCA-EU 2 68387875 68387875 single base substitution C G upstream_gene_variant BRCA-EU 2 68389429 68389429 single base substitution C G upstream_gene_variant BRCA-EU 2 68389558 68389558 insertion of <=200bp - TA upstream_gene_variant BRCA-FR 2 68355044 68355044 single base substitution A G downstream_gene_variant BRCA-FR 2 68355044 68355044 single base substitution A G intron_variant BRCA-FR 2 68365696 68365696 single base substitution G A intron_variant BRCA-UK 2 68364599 68364599 single base substitution C T intron_variant BRCA-US 2 68358525 68358525 single base substitution C T downstream_gene_variant BRCA-US 2 68358525 68358525 single base substitution C T exon_variant BRCA-US 2 68358525 68358525 single base substitution C T missense_variant V307I 919G>A BRCA-US 2 68371769 68371769 single base substitution A C downstream_gene_variant BRCA-US 2 68371769 68371769 single base substitution A C exon_variant BRCA-US 2 68371769 68371769 single base substitution A C synonymous_variant G121G 363T>G BRCA-US 2 68371769 68371769 single base substitution A C synonymous_variant G20G 60T>G BRCA-US 2 68388819 68388819 single base substitution G C upstream_gene_variant BTCA-JP 2 68352306 68352306 single base substitution G C downstream_gene_variant BTCA-JP 2 68352306 68352306 single base substitution G C intron_variant BTCA-JP 2 68384620 68384620 single base substitution C A 5_prime_UTR_variant BTCA-JP 2 68384620 68384620 single base substitution C A exon_variant BTCA-JP 2 68384620 68384620 single base substitution C A upstream_gene_variant BTCA-JP 2 68384871 68384871 single base substitution T C upstream_gene_variant BTCA-JP 2 68385374 68385374 single base substitution C T upstream_gene_variant CESC-US 2 68358570 68358570 single base substitution G T downstream_gene_variant CESC-US 2 68358570 68358570 single base substitution G T exon_variant CESC-US 2 68358570 68358570 single base substitution G T missense_variant P292T 874C>A CESC-US 2 68388847 68388847 single base substitution G C upstream_gene_variant CLLE-ES 2 68375098 68375098 single base substitution C T intron_variant CLLE-ES 2 68377315 68377315 single base substitution A G intron_variant CLLE-ES 2 68388899 68388899 single base substitution G T upstream_gene_variant COAD-US 2 68384493 68384493 single base substitution G A exon_variant COAD-US 2 68384493 68384493 single base substitution G A intron_variant COAD-US 2 68384493 68384493 single base substitution G A missense_variant P28L 83C>T COAD-US 2 68388823 68388823 single base substitution A G upstream_gene_variant COCA-CN 2 68358523 68358523 single base substitution G A downstream_gene_variant COCA-CN 2 68358523 68358523 single base substitution G A exon_variant COCA-CN 2 68358523 68358523 single base substitution G A synonymous_variant V307V 921C>T COCA-CN 2 68361816 68361816 single base substitution G A 3_prime_UTR_variant COCA-CN 2 68361816 68361816 single base substitution G A intron_variant COCA-CN 2 68384918 68384918 single base substitution T C upstream_gene_variant COCA-CN 2 68385173 68385173 single base substitution C T upstream_gene_variant COCA-CN 2 68388777 68388777 single base substitution C A upstream_gene_variant EOPC-DE 2 68370316 68370316 single base substitution A C downstream_gene_variant EOPC-DE 2 68370316 68370316 single base substitution A C intron_variant EOPC-DE 2 68370316 68370316 single base substitution A C upstream_gene_variant ESAD-UK 2 68345135 68345135 single base substitution A C downstream_gene_variant ESAD-UK 2 68345269 68345269 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 68346174 68346174 single base substitution T C downstream_gene_variant ESAD-UK 2 68346391 68346391 single base substitution C T downstream_gene_variant ESAD-UK 2 68346806 68346806 single base substitution C A downstream_gene_variant ESAD-UK 2 68347151 68347151 single base substitution C A downstream_gene_variant ESAD-UK 2 68349635 68349635 single base substitution T A downstream_gene_variant ESAD-UK 2 68350880 68350880 deletion of <=200bp T - intron_variant ESAD-UK 2 68350880 68350880 insertion of <=200bp - T intron_variant ESAD-UK 2 68350942 68350942 single base substitution C A intron_variant ESAD-UK 2 68351115 68351115 single base substitution A T intron_variant ESAD-UK 2 68351125 68351125 single base substitution T A intron_variant ESAD-UK 2 68351999 68351999 single base substitution T C downstream_gene_variant ESAD-UK 2 68351999 68351999 single base substitution T C intron_variant ESAD-UK 2 68352083 68352083 single base substitution T C downstream_gene_variant ESAD-UK 2 68352083 68352083 single base substitution T C intron_variant ESAD-UK 2 68354079 68354079 single base substitution T A downstream_gene_variant ESAD-UK 2 68354079 68354079 single base substitution T A intron_variant ESAD-UK 2 68355954 68355954 single base substitution G A downstream_gene_variant ESAD-UK 2 68355954 68355954 single base substitution G A intron_variant ESAD-UK 2 68356675 68356675 single base substitution T A downstream_gene_variant ESAD-UK 2 68356675 68356675 single base substitution T A intron_variant ESAD-UK 2 68358088 68358088 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 68358088 68358088 single base substitution C T downstream_gene_variant ESAD-UK 2 68358088 68358088 single base substitution C T intron_variant ESAD-UK 2 68359166 68359166 single base substitution A C downstream_gene_variant ESAD-UK 2 68359166 68359166 single base substitution A C intron_variant ESAD-UK 2 68361276 68361276 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 68361276 68361276 single base substitution C A intron_variant ESAD-UK 2 68362841 68362841 single base substitution A G intron_variant ESAD-UK 2 68364784 68364784 single base substitution A T intron_variant ESAD-UK 2 68365179 68365179 single base substitution C T intron_variant ESAD-UK 2 68366233 68366233 single base substitution T G intron_variant ESAD-UK 2 68366233 68366233 single base substitution T G upstream_gene_variant ESAD-UK 2 68367736 68367736 single base substitution C G intron_variant ESAD-UK 2 68367736 68367736 single base substitution C G upstream_gene_variant ESAD-UK 2 68368178 68368178 single base substitution C A intron_variant ESAD-UK 2 68368178 68368178 single base substitution C A upstream_gene_variant ESAD-UK 2 68369219 68369219 single base substitution C T intron_variant ESAD-UK 2 68369219 68369219 single base substitution C T upstream_gene_variant ESAD-UK 2 68369515 68369515 single base substitution A C intron_variant ESAD-UK 2 68369515 68369515 single base substitution A C upstream_gene_variant ESAD-UK 2 68369657 68369657 single base substitution C T downstream_gene_variant ESAD-UK 2 68369657 68369657 single base substitution C T intron_variant ESAD-UK 2 68369657 68369657 single base substitution C T upstream_gene_variant ESAD-UK 2 68369878 68369878 single base substitution A T downstream_gene_variant ESAD-UK 2 68369878 68369878 single base substitution A T intron_variant ESAD-UK 2 68369878 68369878 single base substitution A T upstream_gene_variant ESAD-UK 2 68369902 68369902 single base substitution A C downstream_gene_variant ESAD-UK 2 68369902 68369902 single base substitution A C intron_variant ESAD-UK 2 68369902 68369902 single base substitution A C upstream_gene_variant ESAD-UK 2 68370478 68370478 single base substitution G A downstream_gene_variant ESAD-UK 2 68370478 68370478 single base substitution G A intron_variant ESAD-UK 2 68370478 68370478 single base substitution G A upstream_gene_variant ESAD-UK 2 68370625 68370625 single base substitution A G downstream_gene_variant ESAD-UK 2 68370625 68370625 single base substitution A G intron_variant ESAD-UK 2 68370625 68370625 single base substitution A G upstream_gene_variant ESAD-UK 2 68371157 68371157 single base substitution G A downstream_gene_variant ESAD-UK 2 68371157 68371157 single base substitution G A intron_variant ESAD-UK 2 68371413 68371413 single base substitution A T downstream_gene_variant ESAD-UK 2 68371413 68371413 single base substitution A T intron_variant ESAD-UK 2 68371941 68371941 single base substitution T A downstream_gene_variant ESAD-UK 2 68371941 68371941 single base substitution T A intron_variant ESAD-UK 2 68372560 68372560 single base substitution G A downstream_gene_variant ESAD-UK 2 68372560 68372560 single base substitution G A intron_variant ESAD-UK 2 68372756 68372756 single base substitution A G downstream_gene_variant ESAD-UK 2 68372756 68372756 single base substitution A G intron_variant ESAD-UK 2 68374121 68374121 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 68374121 68374121 insertion of <=200bp - A intron_variant ESAD-UK 2 68374353 68374353 single base substitution C T downstream_gene_variant ESAD-UK 2 68374353 68374353 single base substitution C T intron_variant ESAD-UK 2 68374468 68374468 single base substitution C T downstream_gene_variant ESAD-UK 2 68374468 68374468 single base substitution C T intron_variant ESAD-UK 2 68376889 68376889 single base substitution G C intron_variant ESAD-UK 2 68377602 68377602 single base substitution C T intron_variant ESAD-UK 2 68377691 68377691 single base substitution C G intron_variant ESAD-UK 2 68378232 68378232 single base substitution A C intron_variant ESAD-UK 2 68379534 68379534 single base substitution T G intron_variant ESAD-UK 2 68381952 68381952 single base substitution A C intron_variant ESAD-UK 2 68383988 68383988 single base substitution T G intron_variant ESAD-UK 2 68384896 68384896 single base substitution T G upstream_gene_variant ESAD-UK 2 68385160 68385160 single base substitution G A upstream_gene_variant ESAD-UK 2 68385390 68385390 single base substitution G T upstream_gene_variant ESAD-UK 2 68386724 68386724 single base substitution C T upstream_gene_variant ESAD-UK 2 68387038 68387038 single base substitution A C upstream_gene_variant ESAD-UK 2 68387161 68387161 single base substitution C T upstream_gene_variant ESAD-UK 2 68387162 68387162 single base substitution G A upstream_gene_variant ESAD-UK 2 68389558 68389559 deletion of <=200bp TA - upstream_gene_variant ESCA-CN 2 68389424 68389424 single base substitution G A upstream_gene_variant GBM-US 2 68358402 68358402 single base substitution C G downstream_gene_variant GBM-US 2 68358402 68358402 single base substitution C G missense_variant V348L 1042G>C GBM-US 2 68358402 68358402 single base substitution C G splice_region_variant KIRC-US 2 68371743 68371743 single base substitution G T downstream_gene_variant KIRC-US 2 68371743 68371743 single base substitution G T exon_variant KIRC-US 2 68371743 68371743 single base substitution G T missense_variant P130H 389C>A KIRC-US 2 68371743 68371743 single base substitution G T missense_variant P29H 86C>A KIRC-US 2 68384457 68384457 single base substitution G C exon_variant KIRC-US 2 68384457 68384457 single base substitution G C intron_variant KIRC-US 2 68384457 68384457 single base substitution G C missense_variant A40G 119C>G KIRP-US 2 68368907 68368907 single base substitution G T exon_variant KIRP-US 2 68368907 68368907 single base substitution G T missense_variant P146T 436C>A KIRP-US 2 68368907 68368907 single base substitution G T missense_variant P45T 133C>A KIRP-US 2 68368907 68368907 single base substitution G T upstream_gene_variant KIRP-US 2 68385203 68385203 single base substitution G A upstream_gene_variant LAML-KR 2 68365194 68365194 single base substitution T C intron_variant LAML-KR 2 68366778 68366778 single base substitution T A intron_variant LAML-KR 2 68366778 68366778 single base substitution T A upstream_gene_variant LICA-CN 2 68358404 68358404 single base substitution C G downstream_gene_variant LICA-CN 2 68358404 68358404 single base substitution C G missense_variant R347T 1040G>C LICA-CN 2 68358404 68358404 single base substitution C G splice_region_variant LICA-CN 2 68364565 68364565 single base substitution C A missense_variant V111L 331G>T LICA-CN 2 68364565 68364565 single base substitution C A missense_variant V15L 43G>T LICA-CN 2 68364565 68364565 single base substitution C A missense_variant V212L 634G>T LICA-CN 2 68364565 68364565 single base substitution C A splice_region_variant LICA-CN 2 68371813 68371813 single base substitution C G downstream_gene_variant LICA-CN 2 68371813 68371813 single base substitution C G exon_variant LICA-CN 2 68371813 68371813 single base substitution C G missense_variant V107L 319G>C LICA-CN 2 68371813 68371813 single base substitution C G missense_variant V6L 16G>C LICA-FR 2 68345698 68345698 insertion of <=200bp - A downstream_gene_variant LICA-FR 2 68358519 68358519 single base substitution C T downstream_gene_variant LICA-FR 2 68358519 68358519 single base substitution C T exon_variant LICA-FR 2 68358519 68358519 single base substitution C T missense_variant G309S 925G>A LICA-FR 2 68378077 68378077 single base substitution G A intron_variant LIHC-US 2 68365900 68365900 single base substitution G A exon_variant LIHC-US 2 68365900 68365900 single base substitution G A missense_variant R102W 304C>T LIHC-US 2 68365900 68365900 single base substitution G A missense_variant R203W 607C>T LIHC-US 2 68365900 68365900 single base substitution G A missense_variant R6W 16C>T LINC-JP 2 68352282 68352282 single base substitution A C downstream_gene_variant LINC-JP 2 68352282 68352282 single base substitution A C intron_variant LINC-JP 2 68358810 68358810 single base substitution T A downstream_gene_variant LINC-JP 2 68358810 68358810 single base substitution T A intron_variant LINC-JP 2 68362370 68362370 single base substitution G T intron_variant LINC-JP 2 68364627 68364627 single base substitution T C intron_variant LINC-JP 2 68365606 68365606 single base substitution C A intron_variant LINC-JP 2 68373390 68373390 single base substitution T C downstream_gene_variant LINC-JP 2 68373390 68373390 single base substitution T C intron_variant LINC-JP 2 68387336 68387336 single base substitution C T upstream_gene_variant LIRI-JP 2 68345423 68345423 single base substitution G A downstream_gene_variant LIRI-JP 2 68346494 68346494 single base substitution G A downstream_gene_variant LIRI-JP 2 68346941 68346941 single base substitution C T downstream_gene_variant LIRI-JP 2 68347091 68347091 single base substitution A G downstream_gene_variant LIRI-JP 2 68348211 68348211 single base substitution T G downstream_gene_variant LIRI-JP 2 68349780 68349780 single base substitution G A downstream_gene_variant LIRI-JP 2 68350995 68350995 single base substitution G T intron_variant LIRI-JP 2 68353405 68353405 single base substitution C T downstream_gene_variant LIRI-JP 2 68353405 68353405 single base substitution C T intron_variant LIRI-JP 2 68355101 68355101 single base substitution T G downstream_gene_variant LIRI-JP 2 68355101 68355101 single base substitution T G intron_variant LIRI-JP 2 68355156 68355156 single base substitution A G downstream_gene_variant LIRI-JP 2 68355156 68355156 single base substitution A G intron_variant LIRI-JP 2 68357139 68357139 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 68357139 68357139 single base substitution T C downstream_gene_variant LIRI-JP 2 68357139 68357139 single base substitution T C intron_variant LIRI-JP 2 68359321 68359321 insertion of <=200bp - A downstream_gene_variant LIRI-JP 2 68359321 68359321 insertion of <=200bp - A intron_variant LIRI-JP 2 68359991 68359991 single base substitution G T downstream_gene_variant LIRI-JP 2 68359991 68359991 single base substitution G T intron_variant LIRI-JP 2 68362085 68362085 single base substitution A C intron_variant LIRI-JP 2 68371572 68371572 single base substitution T C downstream_gene_variant LIRI-JP 2 68371572 68371572 single base substitution T C intron_variant LIRI-JP 2 68371901 68371901 single base substitution T C downstream_gene_variant LIRI-JP 2 68371901 68371901 single base substitution T C intron_variant LIRI-JP 2 68373877 68373877 single base substitution T A downstream_gene_variant LIRI-JP 2 68373877 68373877 single base substitution T A intron_variant LIRI-JP 2 68373969 68373970 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 2 68373969 68373970 deletion of <=200bp TA - intron_variant LIRI-JP 2 68377956 68377956 single base substitution C T intron_variant LIRI-JP 2 68379055 68379055 single base substitution C T intron_variant LIRI-JP 2 68379409 68379409 single base substitution C T intron_variant LIRI-JP 2 68380786 68380786 single base substitution T C intron_variant LIRI-JP 2 68381056 68381056 single base substitution T C intron_variant LIRI-JP 2 68381536 68381536 single base substitution G A intron_variant LIRI-JP 2 68383019 68383019 single base substitution A G intron_variant LIRI-JP 2 68385012 68385012 single base substitution T C upstream_gene_variant LIRI-JP 2 68388908 68388908 single base substitution T C upstream_gene_variant LUSC-KR 2 68345246 68345246 single base substitution A C downstream_gene_variant LUSC-KR 2 68345568 68345568 single base substitution G T downstream_gene_variant LUSC-KR 2 68345569 68345569 single base substitution C T downstream_gene_variant LUSC-KR 2 68345608 68345608 single base substitution G A downstream_gene_variant LUSC-KR 2 68347588 68347588 single base substitution T A downstream_gene_variant LUSC-KR 2 68347732 68347732 single base substitution C A downstream_gene_variant LUSC-KR 2 68349264 68349264 single base substitution C A downstream_gene_variant LUSC-KR 2 68350285 68350285 single base substitution G C intron_variant LUSC-KR 2 68352424 68352424 single base substitution T A downstream_gene_variant LUSC-KR 2 68352424 68352424 single base substitution T A exon_variant LUSC-KR 2 68354355 68354355 single base substitution C T downstream_gene_variant LUSC-KR 2 68354355 68354355 single base substitution C T intron_variant LUSC-KR 2 68360164 68360164 single base substitution A T downstream_gene_variant LUSC-KR 2 68360164 68360164 single base substitution A T intron_variant LUSC-KR 2 68365025 68365025 single base substitution G T intron_variant LUSC-KR 2 68367557 68367557 single base substitution G A intron_variant LUSC-KR 2 68367557 68367557 single base substitution G A upstream_gene_variant LUSC-KR 2 68368513 68368513 single base substitution C T intron_variant LUSC-KR 2 68368513 68368513 single base substitution C T upstream_gene_variant LUSC-KR 2 68375725 68375725 single base substitution C A intron_variant LUSC-KR 2 68379564 68379564 single base substitution C A intron_variant LUSC-KR 2 68384882 68384882 single base substitution C T upstream_gene_variant LUSC-KR 2 68389510 68389510 single base substitution G A upstream_gene_variant LUSC-US 2 68361898 68361898 single base substitution G T exon_variant LUSC-US 2 68361898 68361898 single base substitution G T missense_variant L167M 499C>A LUSC-US 2 68361898 68361898 single base substitution G T missense_variant L268M 802C>A LUSC-US 2 68361898 68361898 single base substitution G T missense_variant L71M 211C>A LUSC-US 2 68385526 68385526 single base substitution A G upstream_gene_variant MALY-DE 2 68346036 68346036 single base substitution T G downstream_gene_variant MALY-DE 2 68348557 68348557 single base substitution A G downstream_gene_variant MALY-DE 2 68350035 68350035 single base substitution C T downstream_gene_variant MALY-DE 2 68356955 68356955 single base substitution T G 3_prime_UTR_variant MALY-DE 2 68356955 68356955 single base substitution T G downstream_gene_variant MALY-DE 2 68356955 68356955 single base substitution T G intron_variant MALY-DE 2 68358569 68358569 single base substitution G C downstream_gene_variant MALY-DE 2 68358569 68358569 single base substitution G C exon_variant MALY-DE 2 68358569 68358569 single base substitution G C missense_variant P292R 875C>G MALY-DE 2 68361152 68361153 deletion of <=200bp AT - downstream_gene_variant MALY-DE 2 68361152 68361153 deletion of <=200bp AT - intron_variant MALY-DE 2 68368883 68368883 single base substitution C T exon_variant MALY-DE 2 68368883 68368883 single base substitution C T missense_variant A154T 460G>A MALY-DE 2 68368883 68368883 single base substitution C T missense_variant A53T 157G>A MALY-DE 2 68368883 68368883 single base substitution C T upstream_gene_variant MALY-DE 2 68372471 68372471 single base substitution G A downstream_gene_variant MALY-DE 2 68372471 68372471 single base substitution G A intron_variant MELA-AU 2 68345269 68345269 single base substitution A T downstream_gene_variant MELA-AU 2 68345994 68345994 single base substitution A G downstream_gene_variant MELA-AU 2 68346426 68346426 single base substitution G A downstream_gene_variant MELA-AU 2 68348069 68348070 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 68348144 68348144 single base substitution G A downstream_gene_variant MELA-AU 2 68348159 68348159 single base substitution C T downstream_gene_variant MELA-AU 2 68348314 68348314 single base substitution G A downstream_gene_variant MELA-AU 2 68348327 68348327 single base substitution C T downstream_gene_variant MELA-AU 2 68348620 68348620 single base substitution C T downstream_gene_variant MELA-AU 2 68348990 68348990 single base substitution C T downstream_gene_variant MELA-AU 2 68349125 68349125 single base substitution C T downstream_gene_variant MELA-AU 2 68349206 68349206 single base substitution G A downstream_gene_variant MELA-AU 2 68349685 68349685 single base substitution C T downstream_gene_variant MELA-AU 2 68349743 68349743 single base substitution G A downstream_gene_variant MELA-AU 2 68349772 68349772 single base substitution C T downstream_gene_variant MELA-AU 2 68350033 68350033 single base substitution G C downstream_gene_variant MELA-AU 2 68350105 68350105 single base substitution C T exon_variant MELA-AU 2 68350754 68350754 single base substitution G A intron_variant MELA-AU 2 68350929 68350930 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 68351390 68351390 single base substitution A C intron_variant MELA-AU 2 68351510 68351510 single base substitution G A intron_variant MELA-AU 2 68351937 68351937 single base substitution A C downstream_gene_variant MELA-AU 2 68351937 68351937 single base substitution A C intron_variant MELA-AU 2 68351990 68351990 single base substitution G A downstream_gene_variant MELA-AU 2 68351990 68351990 single base substitution G A intron_variant MELA-AU 2 68352435 68352435 single base substitution G A downstream_gene_variant MELA-AU 2 68352435 68352435 single base substitution G A exon_variant MELA-AU 2 68352527 68352527 single base substitution G A downstream_gene_variant MELA-AU 2 68352527 68352527 single base substitution G A intron_variant MELA-AU 2 68352668 68352668 single base substitution G A downstream_gene_variant MELA-AU 2 68352668 68352668 single base substitution G A intron_variant MELA-AU 2 68353193 68353193 single base substitution G A downstream_gene_variant MELA-AU 2 68353193 68353193 single base substitution G A intron_variant MELA-AU 2 68353240 68353240 single base substitution G A downstream_gene_variant MELA-AU 2 68353240 68353240 single base substitution G A intron_variant MELA-AU 2 68353241 68353241 single base substitution G A downstream_gene_variant MELA-AU 2 68353241 68353241 single base substitution G A intron_variant MELA-AU 2 68353279 68353279 single base substitution G A downstream_gene_variant MELA-AU 2 68353279 68353279 single base substitution G A intron_variant MELA-AU 2 68353452 68353452 single base substitution G C downstream_gene_variant MELA-AU 2 68353452 68353452 single base substitution G C intron_variant MELA-AU 2 68354007 68354007 single base substitution G A downstream_gene_variant MELA-AU 2 68354007 68354007 single base substitution G A intron_variant MELA-AU 2 68354145 68354145 single base substitution T C downstream_gene_variant MELA-AU 2 68354145 68354145 single base substitution T C intron_variant MELA-AU 2 68354503 68354503 single base substitution G A downstream_gene_variant MELA-AU 2 68354503 68354503 single base substitution G A intron_variant MELA-AU 2 68355487 68355487 single base substitution G A downstream_gene_variant MELA-AU 2 68355487 68355487 single base substitution G A intron_variant MELA-AU 2 68355488 68355488 single base substitution G A downstream_gene_variant MELA-AU 2 68355488 68355488 single base substitution G A intron_variant MELA-AU 2 68355933 68355933 single base substitution G A downstream_gene_variant MELA-AU 2 68355933 68355933 single base substitution G A intron_variant MELA-AU 2 68357016 68357016 single base substitution A T 3_prime_UTR_variant MELA-AU 2 68357016 68357016 single base substitution A T downstream_gene_variant MELA-AU 2 68357016 68357016 single base substitution A T intron_variant MELA-AU 2 68357306 68357306 single base substitution G C 3_prime_UTR_variant MELA-AU 2 68357306 68357306 single base substitution G C downstream_gene_variant MELA-AU 2 68357306 68357306 single base substitution G C intron_variant MELA-AU 2 68357308 68357308 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68357308 68357308 single base substitution G A downstream_gene_variant MELA-AU 2 68357308 68357308 single base substitution G A intron_variant MELA-AU 2 68357571 68357571 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68357571 68357571 single base substitution G A downstream_gene_variant MELA-AU 2 68357571 68357571 single base substitution G A intron_variant MELA-AU 2 68357747 68357747 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68357747 68357747 single base substitution G A downstream_gene_variant MELA-AU 2 68357747 68357747 single base substitution G A intron_variant MELA-AU 2 68357941 68357941 single base substitution C T 3_prime_UTR_variant MELA-AU 2 68357941 68357941 single base substitution C T downstream_gene_variant MELA-AU 2 68357941 68357941 single base substitution C T intron_variant MELA-AU 2 68358141 68358141 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68358141 68358141 single base substitution G A downstream_gene_variant MELA-AU 2 68358141 68358141 single base substitution G A intron_variant MELA-AU 2 68358236 68358236 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68358236 68358236 single base substitution G A downstream_gene_variant MELA-AU 2 68358236 68358236 single base substitution G A intron_variant MELA-AU 2 68358301 68358301 single base substitution C T 3_prime_UTR_variant MELA-AU 2 68358301 68358301 single base substitution C T downstream_gene_variant MELA-AU 2 68358301 68358301 single base substitution C T intron_variant MELA-AU 2 68358949 68358949 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68358949 68358949 single base substitution G A downstream_gene_variant MELA-AU 2 68358949 68358949 single base substitution G A intron_variant MELA-AU 2 68359451 68359451 single base substitution G A downstream_gene_variant MELA-AU 2 68359451 68359451 single base substitution G A intron_variant MELA-AU 2 68359682 68359682 single base substitution G A downstream_gene_variant MELA-AU 2 68359682 68359682 single base substitution G A intron_variant MELA-AU 2 68360036 68360036 single base substitution C T downstream_gene_variant MELA-AU 2 68360036 68360036 single base substitution C T intron_variant MELA-AU 2 68360065 68360065 single base substitution G A downstream_gene_variant MELA-AU 2 68360065 68360065 single base substitution G A intron_variant MELA-AU 2 68360438 68360438 single base substitution G A downstream_gene_variant MELA-AU 2 68360438 68360438 single base substitution G A intron_variant MELA-AU 2 68360584 68360584 single base substitution G A downstream_gene_variant MELA-AU 2 68360584 68360584 single base substitution G A intron_variant MELA-AU 2 68360677 68360677 single base substitution G A downstream_gene_variant MELA-AU 2 68360677 68360677 single base substitution G A intron_variant MELA-AU 2 68361163 68361163 single base substitution C G downstream_gene_variant MELA-AU 2 68361163 68361163 single base substitution C G intron_variant MELA-AU 2 68361808 68361808 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68361808 68361808 single base substitution G A intron_variant MELA-AU 2 68361847 68361847 single base substitution G A exon_variant MELA-AU 2 68361847 68361847 single base substitution G A missense_variant H184Y 550C>T MELA-AU 2 68361847 68361847 single base substitution G A missense_variant H285Y 853C>T MELA-AU 2 68361847 68361847 single base substitution G A missense_variant H88Y 262C>T MELA-AU 2 68362095 68362095 single base substitution G A intron_variant MELA-AU 2 68362309 68362309 single base substitution G A intron_variant MELA-AU 2 68363035 68363035 single base substitution G A intron_variant MELA-AU 2 68363166 68363166 single base substitution C A intron_variant MELA-AU 2 68363495 68363495 single base substitution T C intron_variant MELA-AU 2 68363591 68363591 single base substitution T A intron_variant MELA-AU 2 68363644 68363644 single base substitution G A intron_variant MELA-AU 2 68364894 68364894 single base substitution G A intron_variant MELA-AU 2 68364975 68364975 single base substitution G A intron_variant MELA-AU 2 68365171 68365171 single base substitution G A intron_variant MELA-AU 2 68365178 68365178 single base substitution G A intron_variant MELA-AU 2 68365529 68365529 single base substitution G A intron_variant MELA-AU 2 68365740 68365740 single base substitution G A intron_variant MELA-AU 2 68366001 68366001 single base substitution G A intron_variant MELA-AU 2 68366001 68366001 single base substitution G A upstream_gene_variant MELA-AU 2 68366672 68366672 single base substitution G A intron_variant MELA-AU 2 68366672 68366672 single base substitution G A upstream_gene_variant MELA-AU 2 68366820 68366820 single base substitution C T intron_variant MELA-AU 2 68366820 68366820 single base substitution C T upstream_gene_variant MELA-AU 2 68366953 68366954 deletion of <=200bp AG - intron_variant MELA-AU 2 68366953 68366954 deletion of <=200bp AG - upstream_gene_variant MELA-AU 2 68367269 68367269 single base substitution C T intron_variant MELA-AU 2 68367269 68367269 single base substitution C T upstream_gene_variant MELA-AU 2 68367774 68367774 single base substitution A G intron_variant MELA-AU 2 68367774 68367774 single base substitution A G upstream_gene_variant MELA-AU 2 68367874 68367874 single base substitution G A intron_variant MELA-AU 2 68367874 68367874 single base substitution G A upstream_gene_variant MELA-AU 2 68367955 68367955 single base substitution G A intron_variant MELA-AU 2 68367955 68367955 single base substitution G A upstream_gene_variant MELA-AU 2 68368091 68368091 single base substitution G A intron_variant MELA-AU 2 68368091 68368091 single base substitution G A upstream_gene_variant MELA-AU 2 68368839 68368840 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 68368839 68368840 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained W168* 503GG>AA MELA-AU 2 68368839 68368840 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained W67* 200GG>AA MELA-AU 2 68368839 68368840 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 68368942 68368942 single base substitution A C intron_variant MELA-AU 2 68368942 68368942 single base substitution A C upstream_gene_variant MELA-AU 2 68369554 68369554 single base substitution A G intron_variant MELA-AU 2 68369554 68369554 single base substitution A G upstream_gene_variant MELA-AU 2 68370429 68370429 single base substitution T C downstream_gene_variant MELA-AU 2 68370429 68370429 single base substitution T C intron_variant MELA-AU 2 68370429 68370429 single base substitution T C upstream_gene_variant MELA-AU 2 68370913 68370913 single base substitution G A downstream_gene_variant MELA-AU 2 68370913 68370913 single base substitution G A intron_variant MELA-AU 2 68370913 68370913 single base substitution G A upstream_gene_variant MELA-AU 2 68371268 68371268 single base substitution G A downstream_gene_variant MELA-AU 2 68371268 68371268 single base substitution G A intron_variant MELA-AU 2 68371612 68371612 single base substitution G A downstream_gene_variant MELA-AU 2 68371612 68371612 single base substitution G A intron_variant MELA-AU 2 68371632 68371632 single base substitution G A downstream_gene_variant MELA-AU 2 68371632 68371632 single base substitution G A intron_variant MELA-AU 2 68372020 68372020 single base substitution C T downstream_gene_variant MELA-AU 2 68372020 68372020 single base substitution C T intron_variant MELA-AU 2 68372369 68372369 single base substitution G A downstream_gene_variant MELA-AU 2 68372369 68372369 single base substitution G A intron_variant MELA-AU 2 68373304 68373304 single base substitution G T downstream_gene_variant MELA-AU 2 68373304 68373304 single base substitution G T intron_variant MELA-AU 2 68373320 68373320 single base substitution G A downstream_gene_variant MELA-AU 2 68373320 68373320 single base substitution G A intron_variant MELA-AU 2 68373824 68373824 single base substitution G A downstream_gene_variant MELA-AU 2 68373824 68373824 single base substitution G A intron_variant MELA-AU 2 68375362 68375362 single base substitution C T intron_variant MELA-AU 2 68375485 68375485 single base substitution G A intron_variant MELA-AU 2 68376004 68376004 single base substitution C T intron_variant MELA-AU 2 68376370 68376370 single base substitution A C intron_variant MELA-AU 2 68377110 68377110 single base substitution A G intron_variant MELA-AU 2 68377234 68377234 single base substitution G A intron_variant MELA-AU 2 68377344 68377344 single base substitution C A intron_variant MELA-AU 2 68377641 68377641 single base substitution G A intron_variant MELA-AU 2 68378043 68378043 single base substitution C T intron_variant MELA-AU 2 68378045 68378045 single base substitution C T intron_variant MELA-AU 2 68378139 68378139 single base substitution A G intron_variant MELA-AU 2 68378140 68378141 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 68378253 68378253 single base substitution C T intron_variant MELA-AU 2 68378449 68378449 single base substitution G A intron_variant MELA-AU 2 68378692 68378692 single base substitution G A intron_variant MELA-AU 2 68379166 68379166 single base substitution G A intron_variant MELA-AU 2 68379454 68379454 single base substitution C T intron_variant MELA-AU 2 68380389 68380389 single base substitution T A intron_variant MELA-AU 2 68381363 68381363 single base substitution G A intron_variant MELA-AU 2 68381488 68381488 single base substitution C T intron_variant MELA-AU 2 68381600 68381600 single base substitution G A intron_variant MELA-AU 2 68381718 68381718 single base substitution G A intron_variant MELA-AU 2 68382327 68382327 single base substitution G A intron_variant MELA-AU 2 68382334 68382334 single base substitution G A intron_variant MELA-AU 2 68382894 68382894 single base substitution G A intron_variant MELA-AU 2 68383600 68383600 single base substitution G T intron_variant MELA-AU 2 68384328 68384328 single base substitution G A exon_variant MELA-AU 2 68384328 68384328 single base substitution G A intron_variant MELA-AU 2 68384726 68384726 single base substitution G A upstream_gene_variant MELA-AU 2 68384781 68384781 single base substitution G A upstream_gene_variant MELA-AU 2 68384813 68384813 single base substitution C T upstream_gene_variant MELA-AU 2 68384830 68384830 single base substitution G A upstream_gene_variant MELA-AU 2 68384906 68384906 single base substitution C T upstream_gene_variant MELA-AU 2 68384919 68384919 single base substitution C T upstream_gene_variant MELA-AU 2 68384920 68384920 single base substitution C T upstream_gene_variant MELA-AU 2 68384933 68384933 single base substitution C T upstream_gene_variant MELA-AU 2 68384939 68384939 single base substitution C T upstream_gene_variant MELA-AU 2 68384940 68384940 single base substitution C T upstream_gene_variant MELA-AU 2 68384969 68384969 single base substitution G A upstream_gene_variant MELA-AU 2 68384973 68384973 single base substitution G A upstream_gene_variant MELA-AU 2 68385012 68385012 single base substitution T C upstream_gene_variant MELA-AU 2 68385082 68385082 single base substitution G A upstream_gene_variant MELA-AU 2 68385832 68385832 single base substitution C T upstream_gene_variant MELA-AU 2 68386042 68386042 single base substitution G A upstream_gene_variant MELA-AU 2 68387405 68387405 single base substitution G A upstream_gene_variant MELA-AU 2 68387882 68387882 single base substitution C T upstream_gene_variant MELA-AU 2 68388783 68388784 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 2 68389028 68389028 single base substitution A T upstream_gene_variant MELA-AU 2 68389062 68389062 single base substitution T C upstream_gene_variant MELA-AU 2 68389650 68389650 single base substitution C T upstream_gene_variant ORCA-IN 2 68364992 68364992 single base substitution C T intron_variant ORCA-IN 2 68365899 68365899 single base substitution C T exon_variant ORCA-IN 2 68365899 68365899 single base substitution C T missense_variant R102Q 305G>A ORCA-IN 2 68365899 68365899 single base substitution C T missense_variant R203Q 608G>A ORCA-IN 2 68365899 68365899 single base substitution C T missense_variant R6Q 17G>A OV-AU 2 68345732 68345732 single base substitution C A downstream_gene_variant OV-AU 2 68347616 68347616 single base substitution T C downstream_gene_variant OV-AU 2 68349593 68349593 single base substitution T C downstream_gene_variant OV-AU 2 68378497 68378497 single base substitution C A intron_variant OV-AU 2 68378498 68378498 single base substitution C A intron_variant OV-AU 2 68382440 68382440 single base substitution A C intron_variant OV-AU 2 68384805 68384805 single base substitution C A upstream_gene_variant OV-AU 2 68384994 68384994 single base substitution T C upstream_gene_variant OV-AU 2 68385002 68385002 single base substitution G C upstream_gene_variant OV-AU 2 68388094 68388094 single base substitution A T upstream_gene_variant OV-AU 2 68389109 68389109 single base substitution A G upstream_gene_variant PACA-AU 2 68345428 68345428 single base substitution C T downstream_gene_variant PACA-AU 2 68350023 68350023 single base substitution A G downstream_gene_variant PACA-AU 2 68350467 68350467 single base substitution C T intron_variant PACA-AU 2 68351949 68351949 single base substitution C G downstream_gene_variant PACA-AU 2 68351949 68351949 single base substitution C G intron_variant PACA-AU 2 68352649 68352649 single base substitution T G downstream_gene_variant PACA-AU 2 68352649 68352649 single base substitution T G intron_variant PACA-AU 2 68357534 68357534 single base substitution T A 3_prime_UTR_variant PACA-AU 2 68357534 68357534 single base substitution T A downstream_gene_variant PACA-AU 2 68357534 68357534 single base substitution T A intron_variant PACA-AU 2 68357943 68357943 single base substitution T G 3_prime_UTR_variant PACA-AU 2 68357943 68357943 single base substitution T G downstream_gene_variant PACA-AU 2 68357943 68357943 single base substitution T G intron_variant PACA-AU 2 68365308 68365308 insertion of <=200bp - AAAC intron_variant PACA-AU 2 68366028 68366028 single base substitution G T intron_variant PACA-AU 2 68366028 68366028 single base substitution G T upstream_gene_variant PACA-AU 2 68372826 68372826 single base substitution A T downstream_gene_variant PACA-AU 2 68372826 68372826 single base substitution A T intron_variant PACA-AU 2 68376622 68376622 single base substitution C T intron_variant PACA-AU 2 68376712 68376712 single base substitution T A intron_variant PACA-AU 2 68379214 68379214 single base substitution T A intron_variant PACA-AU 2 68382342 68382342 single base substitution G T intron_variant PACA-AU 2 68386111 68386128 deletion of <=200bp TATGTGTATATTTGTTTA - upstream_gene_variant PACA-CA 2 68345266 68345269 deletion of <=200bp AAAA - downstream_gene_variant PACA-CA 2 68346697 68346697 single base substitution T C downstream_gene_variant PACA-CA 2 68351218 68351218 single base substitution G A intron_variant PACA-CA 2 68353282 68353282 single base substitution G T downstream_gene_variant PACA-CA 2 68353282 68353282 single base substitution G T intron_variant PACA-CA 2 68356031 68356031 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 68356031 68356031 insertion of <=200bp - A intron_variant PACA-CA 2 68360168 68360168 single base substitution C A downstream_gene_variant PACA-CA 2 68360168 68360168 single base substitution C A intron_variant PACA-CA 2 68360281 68360281 single base substitution C T downstream_gene_variant PACA-CA 2 68360281 68360281 single base substitution C T intron_variant PACA-CA 2 68362866 68362866 single base substitution G C intron_variant PACA-CA 2 68366787 68366787 single base substitution T C intron_variant PACA-CA 2 68366787 68366787 single base substitution T C upstream_gene_variant PACA-CA 2 68367954 68367954 single base substitution C T intron_variant PACA-CA 2 68367954 68367954 single base substitution C T upstream_gene_variant PACA-CA 2 68374150 68374150 single base substitution G A downstream_gene_variant PACA-CA 2 68374150 68374150 single base substitution G A intron_variant PACA-CA 2 68374834 68374834 single base substitution A G intron_variant PACA-CA 2 68376926 68376926 single base substitution A C intron_variant PACA-CA 2 68379048 68379048 single base substitution C T intron_variant PACA-CA 2 68379175 68379175 single base substitution A G intron_variant PACA-CA 2 68380838 68380838 insertion of <=200bp - T intron_variant PACA-CA 2 68381358 68381358 single base substitution C T intron_variant PACA-CA 2 68386412 68386412 single base substitution A G upstream_gene_variant PACA-CA 2 68387790 68387790 single base substitution G T upstream_gene_variant PACA-CA 2 68387791 68387791 single base substitution A T upstream_gene_variant PAEN-AU 2 68365936 68365936 single base substitution C A exon_variant PAEN-AU 2 68365936 68365936 single base substitution C A missense_variant D191Y 571G>T PAEN-AU 2 68365936 68365936 single base substitution C A missense_variant D90Y 268G>T PAEN-AU 2 68365936 68365936 single base substitution C A upstream_gene_variant PAEN-IT 2 68379662 68379662 single base substitution C T intron_variant PBCA-DE 2 68351042 68351042 single base substitution C T intron_variant PBCA-DE 2 68352035 68352035 single base substitution A T downstream_gene_variant PBCA-DE 2 68352035 68352035 single base substitution A T intron_variant PBCA-DE 2 68357240 68357240 insertion of <=200bp - ATATAT 3_prime_UTR_variant PBCA-DE 2 68357240 68357240 insertion of <=200bp - ATATAT downstream_gene_variant PBCA-DE 2 68357240 68357240 insertion of <=200bp - ATATAT intron_variant PBCA-DE 2 68361643 68361643 single base substitution T C 3_prime_UTR_variant PBCA-DE 2 68361643 68361643 single base substitution T C intron_variant PBCA-DE 2 68369910 68369910 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 68369910 68369910 deletion of <=200bp A - intron_variant PBCA-DE 2 68369910 68369910 deletion of <=200bp A - upstream_gene_variant PBCA-DE 2 68373113 68373113 single base substitution G T downstream_gene_variant PBCA-DE 2 68373113 68373113 single base substitution G T intron_variant PRAD-CA 2 68367523 68367523 single base substitution C T intron_variant PRAD-CA 2 68367523 68367523 single base substitution C T upstream_gene_variant PRAD-CA 2 68386408 68386408 single base substitution G A upstream_gene_variant PRAD-CA 2 68388085 68388085 single base substitution A G upstream_gene_variant PRAD-UK 2 68350174 68350174 single base substitution G T intron_variant PRAD-UK 2 68350299 68350299 single base substitution A G intron_variant READ-US 2 68385614 68385614 single base substitution G A upstream_gene_variant RECA-EU 2 68349153 68349153 single base substitution G A downstream_gene_variant RECA-EU 2 68373161 68373161 single base substitution A C downstream_gene_variant RECA-EU 2 68373161 68373161 single base substitution A C intron_variant SKCA-BR 2 68345268 68345268 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 2 68345687 68345687 single base substitution G A downstream_gene_variant SKCA-BR 2 68347059 68347059 single base substitution G A downstream_gene_variant SKCA-BR 2 68347744 68347744 single base substitution G A downstream_gene_variant SKCA-BR 2 68348314 68348314 single base substitution G A downstream_gene_variant SKCA-BR 2 68352487 68352487 single base substitution G A downstream_gene_variant SKCA-BR 2 68352487 68352487 single base substitution G A exon_variant SKCA-BR 2 68352515 68352515 single base substitution A C downstream_gene_variant SKCA-BR 2 68352515 68352515 single base substitution A C splice_region_variant SKCA-BR 2 68352582 68352582 single base substitution A G downstream_gene_variant SKCA-BR 2 68352582 68352582 single base substitution A G intron_variant SKCA-BR 2 68354503 68354503 single base substitution G A downstream_gene_variant SKCA-BR 2 68354503 68354503 single base substitution G A intron_variant SKCA-BR 2 68354727 68354727 single base substitution C A downstream_gene_variant SKCA-BR 2 68354727 68354727 single base substitution C A intron_variant SKCA-BR 2 68356407 68356408 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 68356407 68356408 deletion of <=200bp CT - intron_variant SKCA-BR 2 68356409 68356409 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 2 68356409 68356409 insertion of <=200bp - CA intron_variant SKCA-BR 2 68356409 68356410 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 2 68356409 68356410 deletion of <=200bp CA - intron_variant SKCA-BR 2 68356454 68356454 single base substitution G A downstream_gene_variant SKCA-BR 2 68356454 68356454 single base substitution G A intron_variant SKCA-BR 2 68357940 68357940 single base substitution T G 3_prime_UTR_variant SKCA-BR 2 68357940 68357940 single base substitution T G downstream_gene_variant SKCA-BR 2 68357940 68357940 single base substitution T G intron_variant SKCA-BR 2 68361900 68361900 single base substitution T G exon_variant SKCA-BR 2 68361900 68361900 single base substitution T G missense_variant H166P 497A>C SKCA-BR 2 68361900 68361900 single base substitution T G missense_variant H267P 800A>C SKCA-BR 2 68361900 68361900 single base substitution T G missense_variant H70P 209A>C SKCA-BR 2 68362309 68362309 single base substitution G A intron_variant SKCA-BR 2 68365767 68365767 single base substitution G A intron_variant SKCA-BR 2 68372375 68372375 single base substitution G A downstream_gene_variant SKCA-BR 2 68372375 68372375 single base substitution G A intron_variant SKCA-BR 2 68372447 68372447 single base substitution T G downstream_gene_variant SKCA-BR 2 68372447 68372447 single base substitution T G intron_variant SKCA-BR 2 68376226 68376226 single base substitution T C intron_variant SKCA-BR 2 68377566 68377568 deletion of <=200bp CCA - intron_variant SKCA-BR 2 68381524 68381524 single base substitution G A intron_variant SKCA-BR 2 68383233 68383235 deletion of <=200bp CAA - intron_variant SKCA-BR 2 68384867 68384867 single base substitution G A upstream_gene_variant SKCA-BR 2 68386900 68386900 single base substitution C A upstream_gene_variant SKCA-BR 2 68387087 68387087 single base substitution C A upstream_gene_variant SKCM-US 2 68358422 68358422 single base substitution G A downstream_gene_variant SKCM-US 2 68358422 68358422 single base substitution G A exon_variant SKCM-US 2 68358422 68358422 single base substitution G A missense_variant S341L 1022C>T SKCM-US 2 68368839 68368839 single base substitution C T exon_variant SKCM-US 2 68368839 68368839 single base substitution C T stop_gained W168* 504G>A SKCM-US 2 68368839 68368839 single base substitution C T stop_gained W67* 201G>A SKCM-US 2 68368839 68368839 single base substitution C T upstream_gene_variant SKCM-US 2 68389420 68389420 single base substitution G T upstream_gene_variant STAD-US 2 68352436 68352436 single base substitution T C downstream_gene_variant STAD-US 2 68352436 68352436 single base substitution T C exon_variant STAD-US 2 68352450 68352450 single base substitution G A downstream_gene_variant STAD-US 2 68352450 68352450 single base substitution G A exon_variant STAD-US 2 68385130 68385130 insertion of <=200bp - A upstream_gene_variant STAD-US 2 68385209 68385209 single base substitution A T upstream_gene_variant STAD-US 2 68385539 68385539 single base substitution C G upstream_gene_variant THCA-SA 2 68388823 68388823 single base substitution A G upstream_gene_variant UCEC-US 2 68358371 68358371 single base substitution C T downstream_gene_variant UCEC-US 2 68358371 68358371 single base substitution C T intron_variant UCEC-US 2 68358371 68358371 single base substitution C T stop_retained_variant *358* 1073G>A UCEC-US 2 68358438 68358438 single base substitution G T downstream_gene_variant UCEC-US 2 68358438 68358438 single base substitution G T exon_variant UCEC-US 2 68358438 68358438 single base substitution G T missense_variant L336I 1006C>A UCEC-US 2 68358530 68358530 single base substitution A C downstream_gene_variant UCEC-US 2 68358530 68358530 single base substitution A C exon_variant UCEC-US 2 68358530 68358530 single base substitution A C missense_variant M305R 914T>G UCEC-US 2 68361860 68361860 single base substitution G A exon_variant UCEC-US 2 68361860 68361860 single base substitution G A synonymous_variant G179G 537C>T UCEC-US 2 68361860 68361860 single base substitution G A synonymous_variant G280G 840C>T UCEC-US 2 68361860 68361860 single base substitution G A synonymous_variant G83G 249C>T UCEC-US 2 68368888 68368888 single base substitution G A exon_variant UCEC-US 2 68368888 68368888 single base substitution G A missense_variant P152L 455C>T UCEC-US 2 68368888 68368888 single base substitution G A missense_variant P51L 152C>T UCEC-US 2 68368888 68368888 single base substitution G A upstream_gene_variant UCEC-US 2 68385653 68385653 single base substitution G T upstream_gene_variant UCEC-US 2 68389401 68389401 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand OSCC-GB_00410111 COSM3718568 c.608G>A p.R203Q Substitution - Missense 2:68138767-68138767 - TCGA-K7-A5RG-01 COSM4930046 c.607C>T p.R203W Substitution - Missense 2:68138768-68138768 - HT115 COSM3055566 c.1011C>T p.C337C Substitution - coding silent 2:68131301-68131301 - HCC022T COSM5817629 c.319G>C p.V107L Substitution - Missense 2:68144681-68144681 - T3309 COSM4741130 c.624C>G p.I208M Substitution - Missense 2:68138751-68138751 - TCGA-G4-6628-01 COSM3695564 c.83C>T p.P28L Substitution - Missense 2:68157361-68157361 - 2492710 COSM5717021 c.40C>T p.Q14* Substitution - Nonsense 2:68157404-68157404 - Pat_41_B COSM5862723 c.118G>A p.A40T Substitution - Missense 2:68157326-68157326 - T3202 COSM4741131 c.327C>T p.G109G Substitution - coding silent 2:68144673-68144673 - LUAD_E00522 COSM353138 c.1035G>A p.T345T Substitution - coding silent 2:68131277-68131277 - 2492722 COSM5719600 c.699A>G p.E233E Substitution - coding silent 2:68137368-68137368 - YUSMI COSM5397225 c.454C>T p.P152S Substitution - Missense 2:68141757-68141757 - 250LT COSM148870 c.721A>G p.M241V Substitution - Missense 2:68137346-68137346 - TCGA-AA-3666-01 COSM265877 c.905G>A p.G302E Substitution - Missense 2:68131407-68131407 - 28 COSM148870 c.721A>G p.M241V Substitution - Missense 2:68137346-68137346 - TCGA-AO-A128-01 COSM3839843 c.919G>A p.V307I Substitution - Missense 2:68131393-68131393 - TCGA-HE-7128-01 COSM3991406 c.436C>A p.P146T Substitution - Missense 2:68141775-68141775 - 2521249 COSM5887789 c.709C>T p.H237Y Substitution - Missense 2:68137358-68137358 - T3049 COSM4741129 c.1037T>C p.V346A Substitution - Missense 2:68131275-68131275 - tumor_4128477 COSM5947279 c.875C>G p.P292R Substitution - Missense 2:68131437-68131437 - U2940 COSM5622180 c.68A>G p.D23G Substitution - Missense 2:68157376-68157376 - T578 COSM4741132 c.296C>T p.A99V Substitution - Missense 2:68144704-68144704 - SNUH_G73_S1 COSM148870 c.721A>G p.M241V Substitution - Missense 2:68137346-68137346 - TCGA-AX-A0J1-01 COSM1022331 c.455C>T p.P152L Substitution - Missense 2:68141756-68141756 - TCGA-D1-A17F-01 COSM1022330 c.733C>A p.H245N Substitution - Missense 2:68137334-68137334 - CHC1747T COSM3055568 c.925G>A p.G309S Substitution - Missense 2:68131387-68131387 - C91 COSM4444789 c.541C>T p.R181C Substitution - Missense 2:68138834-68138834 - TCGA-AG-4008-01 COSM259161 c.547G>T p.V183F Substitution - Missense 2:68138828-68138828 - HCC137T COSM5811269 c.634G>T p.V212L Substitution - Missense 2:68137433-68137433 - BRC18 COSM5025642 c.1012G>A p.V338I Substitution - Missense 2:68131300-68131300 - 2492723 COSM5719600 c.699A>G p.E233E Substitution - coding silent 2:68137368-68137368 - T1180 COSM4741134 c.113A>T p.N38I Substitution - Missense 2:68157331-68157331 - GC8_T COSM148870 c.721A>G p.M241V Substitution - Missense 2:68137346-68137346 - 2492720 COSM5719600 c.699A>G p.E233E Substitution - coding silent 2:68137368-68137368 - TCGA-B8-5164-01 COSM477579 c.119C>G p.A40G Substitution - Missense 2:68157325-68157325 - TCGA-AP-A051-01 COSM1022326 c.1073G>A p.*358* Substitution - coding silent 2:68131239-68131239 - TCGA-AP-A051-01 COSM1022329 c.840C>T p.G280G Substitution - coding silent 2:68134728-68134728 - 587222 COSM1232713 c.298C>T p.P100S Substitution - Missense 2:68144702-68144702 - TCGA-AP-A059-01 COSM1022327 c.1006C>A p.L336I Substitution - Missense 2:68131306-68131306 - 2492708 COSM5717021 c.40C>T p.Q14* Substitution - Nonsense 2:68157404-68157404 - TCGA-Q1-A6DV-01 COSM4850912 c.874C>A p.P292T Substitution - Missense 2:68131438-68131438 - T3091 COSM4741133 c.125delG p.G42fs*15 Deletion - Frameshift 2:68157319-68157319 - SW403 COSM4314744 c.334G>T p.E112* Substitution - Nonsense 2:68144666-68144666 - ESO-2536 COSM1270447 c.273C>A p.N91K Substitution - Missense 2:68147478-68147478 - TCGA-EE-A2M5-06 COSM3582631 c.504G>A p.W168* Substitution - Nonsense 2:68141707-68141707 - TCGA-A8-A0A6-01 COSM3839844 c.363T>G p.G121G Substitution - coding silent 2:68144637-68144637 - PD14453a COSM5777144 c.383G>T p.G128V Substitution - Missense 2:68144617-68144617 - 262LT COSM148870 c.721A>G p.M241V Substitution - Missense 2:68137346-68137346 - TCGA-FW-A3R5-06 COSM3910493 c.1022C>T p.S341L Substitution - Missense 2:68131290-68131290 - LUAD-E01317 COSM403750 c.768G>A p.K256K Substitution - coding silent 2:68137299-68137299 - 116 COSM5010822 c.290T>C p.L97S Substitution - Missense 2:68144710-68144710 - 2492709 COSM5717021 c.40C>T p.Q14* Substitution - Nonsense 2:68157404-68157404 - 73 COSM5010821 c.996T>G p.D332E Substitution - Missense 2:68131316-68131316 - TCGA-51-4080-01 COSM722043 c.802C>A p.L268M Substitution - Missense 2:68134766-68134766 - HCC155T COSM5823315 c.1040G>C p.R347T Substitution - Missense 2:68131272-68131272 - TCGA-BP-5200-01 COSM477578 c.389C>A p.P130H Substitution - Missense 2:68144611-68144611 - 39 COSM148870 c.721A>G p.M241V Substitution - Missense 2:68137346-68137346 - ESCC-D8 COSM5046468 c.1007T>G p.L336R Substitution - Missense 2:68131305-68131305 - TCGA-41-3392-01 COSM3407935 c.1042G>C p.V348L Substitution - Missense 2:68131270-68131270 - 2492721 COSM5719600 c.699A>G p.E233E Substitution - coding silent 2:68137368-68137368 - LU-1991 COSM5615115 c.586G>C p.D196H Substitution - Missense 2:68138789-68138789 - TCGA-B5-A0JY-01 COSM1022328 c.914T>G p.M305R Substitution - Missense 2:68131398-68131398 - tumor_4135350 COSM1161365 c.460G>A p.A154T Substitution - Missense 2:68141751-68141751 - 41T COSM3718568 c.608G>A p.R203Q Substitution - Missense 2:68138767-68138767 - 8067509 COSM4406481 c.571G>T p.D191Y Substitution - Missense 2:68138804-68138804 - LS411 COSM3055577 c.47G>A p.G16D Substitution - Missense 2:68157397-68157397 - CHC1747T COSM3055568 c.925G>A p.G309S Substitution - Missense 2:68131387-68131387 - 343 COSM1742235 c.652G>C p.D218H Substitution - Missense 2:68137415-68137415 - 2497773 COSM194681 c.922G>A p.A308T Substitution - Missense 2:68131390-68131390 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631877 2p14 610729 235309|dbSNP|BC066657|A/G|non-coding||1225|Candidate; 1533157|dbSNP|BC014022|C/T|non-coding||1241|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.V183F c.547G>T 2 68365960 COREAD C G Missense p.D196H c.586G>C 2 68365921 NSCLC C G Missense p.R41P c.122G>C 2 68384454 CM C G Missense p.V348L c.1042G>C 2 68358402 GBM C T 3-UTRSNV . c.1071+125G>A 2 68358248 ESCA C T Missense p.A154T c.460G>A 2 68368883 DLBCL C T Missense p.E101K c.301G>A 2 68371831 BRCA C T Missense p.G302E c.905G>A 2 68358539 COREAD C T Missense p.V338I c.1012G>A 2 68358432 BRCA C T Nonsense p.W168* c.504G>A 2 68368839 CM C T Synonymous p.G190G c.570G>A 2 68365937 CM G A 3-UTRSNV . c.1071+129C>T 2 68358244 CM G A IntronicSNV . c.866+86C>T 2 68361748 CM G C Missense p.A40G c.119C>G 2 68384457 RCCC G C Synonymous p.L197L c.591C>G 2 68365916 HNSC G T Missense p.L268M c.802C>A 2 68361898 LUSC G T Missense p.N91K c.273C>A 2 68374610 ESCA G T Missense p.P130H c.389C>A 2 68371743 RCCC TGTC - Frameshift p.R266Pfs*10 c.797_800delGACA 2 68361900 BRCA