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 12 27933962 27933962 + Silent SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr12:27933962C>A c.699C>A c.(697-699)gcC>gcA p.A233A ACC 12 27950800 27950800 + Missense_Mutation SNP C C T TCGA-OR-A5JK-01A-11D-A29I-10 TCGA-OR-A5JK-10A-01D-A29L-10 g.chr12:27950800C>T c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C BLCA 12 27933738 27933738 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr12:27933738G>A c.475G>A c.(475-477)Gag>Aag p.E159K BLCA 12 27933917 27933917 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr12:27933917C>T c.654C>T c.(652-654)tcC>tcT p.S218S BLCA 12 27933977 27933977 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr12:27933977C>T c.714C>T c.(712-714)ccC>ccT p.P238P BLCA 12 27933986 27933986 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr12:27933986C>G c.723C>G c.(721-723)gtC>gtG p.V241V BLCA 12 27934101 27934101 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr12:27934101G>A c.838G>A c.(838-840)Gag>Aag p.E280K BRCA 12 27944828 27944828 + Missense_Mutation SNP A A G TCGA-E9-A2JS-01A-11D-A17W-09 TCGA-E9-A2JS-10A-01D-A17W-09 g.chr12:27944828A>G c.1060A>G c.(1060-1062)Acc>Gcc p.T354A CESC 12 27933812 27933812 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr12:27933812G>C c.549G>C c.(547-549)caG>caC p.Q183H CESC 12 27944650 27944650 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr12:27944650C>G c.882C>G c.(880-882)ttC>ttG p.F294L CESC 12 27950964 27950964 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr12:27950964G>A c.1383G>A c.(1381-1383)tcG>tcA p.S461S COAD 12 27933782 27933782 + Silent SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:27933782C>A c.519C>A c.(517-519)ccC>ccA p.P173P COAD 12 27944696 27944696 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr12:27944696G>A c.928G>A c.(928-930)Gcc>Acc p.A310T COAD 12 27944771 27944771 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:27944771G>A c.1003G>A c.(1003-1005)Gct>Act p.A335T COAD 12 27944794 27944794 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:27944794T>C c.1026T>C c.(1024-1026)tgT>tgC p.C342C COAD 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:27950769delG c.1188delG c.(1186-1188)gtgfs p.V396fs COAD 12 27950794 27950794 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr12:27950794C>T c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S COAD 12 27950801 27950801 + Missense_Mutation SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr12:27950801G>A c.1220G>A c.(1219-1221)cGc>cAc p.R407H COAD 12 27951032 27951032 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:27951032G>A c.1451G>A c.(1450-1452)cGt>cAt p.R484H COADREAD 12 27933702 27933702 + Nonsense_Mutation SNP G G T TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr12:27933702G>T c.439G>T c.(439-441)Gag>Tag p.E147* COADREAD 12 27933782 27933782 + Silent SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:27933782C>A c.519C>A c.(517-519)ccC>ccA p.P173P COADREAD 12 27944691 27944691 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr12:27944691G>A c.923G>A c.(922-924)gGg>gAg p.G308E COADREAD 12 27944696 27944696 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr12:27944696G>A c.928G>A c.(928-930)Gcc>Acc p.A310T COADREAD 12 27944771 27944771 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:27944771G>A c.1003G>A c.(1003-1005)Gct>Act p.A335T COADREAD 12 27944794 27944794 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:27944794T>C c.1026T>C c.(1024-1026)tgT>tgC p.C342C COADREAD 12 27950731 27950731 + Missense_Mutation SNP C C A TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr12:27950731C>A c.1150C>A c.(1150-1152)Cag>Aag p.Q384K COADREAD 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:27950769delG c.1188delG c.(1186-1188)gtgfs p.V396fs COADREAD 12 27950794 27950794 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr12:27950794C>T c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S COADREAD 12 27950801 27950801 + Missense_Mutation SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr12:27950801G>A c.1220G>A c.(1219-1221)cGc>cAc p.R407H COADREAD 12 27951032 27951032 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:27951032G>A c.1451G>A c.(1450-1452)cGt>cAt p.R484H DLBC 12 27950775 27950775 + Silent SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr12:27950775G>A c.1194G>A c.(1192-1194)ggG>ggA p.G398G ESCA 12 27944734 27944734 + Missense_Mutation SNP T T G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr12:27944734T>G c.966T>G c.(964-966)gaT>gaG p.D322E ESCA 12 27950675 27950675 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr12:27950675G>T c.1094G>T c.(1093-1095)tGc>tTc p.C365F ESCA 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr12:27950769delG c.1188delG c.(1186-1188)gtgfs p.V396fs GBMLGG 12 27933542 27933542 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:27933542C>T c.279C>T c.(277-279)gaC>gaT p.D93D GBMLGG 12 27944687 27944687 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:27944687G>A c.919G>A c.(919-921)Gga>Aga p.G307R HNSC 12 27950647 27950647 + Splice_Site SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr12:27950647G>A c.e3-1 HNSC 12 27950650 27950650 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 g.chr12:27950650C>T c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W HNSC 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr12:27950769delG c.1188delG c.(1186-1188)gtgfs p.V396fs HNSC 12 27950995 27950995 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:27950995T>C c.1414T>C c.(1414-1416)Tac>Cac p.Y472H KICH 12 27933686 27933686 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr12:27933686G>A c.423G>A c.(421-423)ggG>ggA p.G141G KICH 12 27934040 27934040 + Silent SNP C C T TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr12:27934040C>T c.777C>T c.(775-777)ggC>ggT p.G259G KIPAN 12 27933686 27933686 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr12:27933686G>A c.423G>A c.(421-423)ggG>ggA p.G141G KIPAN 12 27933951 27933951 + Missense_Mutation SNP T T C TCGA-CJ-4638-01A-02D-1386-10 TCGA-CJ-4638-11A-01D-1251-10 g.chr12:27933951T>C c.688T>C c.(688-690)Ttc>Ctc p.F230L KIPAN 12 27934040 27934040 + Silent SNP C C T TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr12:27934040C>T c.777C>T c.(775-777)ggC>ggT p.G259G KIPAN 12 27950786 27950786 + Missense_Mutation SNP A A T TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr12:27950786A>T c.1205A>T c.(1204-1206)gAg>gTg p.E402V KIPAN 12 27950834 27950834 + Missense_Mutation SNP T T A TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr12:27950834T>A c.1253T>A c.(1252-1254)gTg>gAg p.V418E KIRC 12 27933951 27933951 + Missense_Mutation SNP T T C TCGA-CJ-4638-01A-02D-1386-10 TCGA-CJ-4638-11A-01D-1251-10 g.chr12:27933951T>C c.688T>C c.(688-690)Ttc>Ctc p.F230L KIRC 12 27950786 27950786 + Missense_Mutation SNP A A T TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr12:27950786A>T c.1205A>T c.(1204-1206)gAg>gTg p.E402V KIRP 12 27950834 27950834 + Missense_Mutation SNP T T A TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr12:27950834T>A c.1253T>A c.(1252-1254)gTg>gAg p.V418E LGG 12 27933542 27933542 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:27933542C>T c.279C>T c.(277-279)gaC>gaT p.D93D LGG 12 27944687 27944687 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:27944687G>A c.919G>A c.(919-921)Gga>Aga p.G307R LIHC 12 27933999 27933999 + Missense_Mutation SNP T T C TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr12:27933999T>C c.736T>C c.(736-738)Tat>Cat p.Y246H LUAD 12 27933611 27933611 + Silent SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr12:27933611C>T c.348C>T c.(346-348)tcC>tcT p.S116S LUAD 12 27933771 27933771 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr12:27933771G>T c.508G>T c.(508-510)Ggg>Tgg p.G170W LUAD 12 27933832 27933832 + Missense_Mutation SNP T T A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr12:27933832T>A c.569T>A c.(568-570)aTg>aAg p.M190K LUAD 12 27944681 27944681 + Missense_Mutation SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr12:27944681G>T c.913G>T c.(913-915)Gcc>Tcc p.A305S LUAD 12 27951076 27951076 + Missense_Mutation SNP C C G TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr12:27951076C>G c.1495C>G c.(1495-1497)Ctg>Gtg p.L499V LUSC 12 27933843 27933843 + Missense_Mutation SNP C C T TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr12:27933843C>T c.580C>T c.(580-582)Cct>Tct p.P194S LUSC 12 27950784 27950784 + Silent SNP C C T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr12:27950784C>T c.1203C>T c.(1201-1203)caC>caT p.H401H LUSC 12 27950953 27950953 + Missense_Mutation SNP G G T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr12:27950953G>T c.1372G>T c.(1372-1374)Gtc>Ttc p.V458F OV 12 27944691 27944691 + Missense_Mutation SNP G G A TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 g.chr12:27944691G>A c.923G>A c.(922-924)gGg>gAg p.G308E PAAD 12 27950726 27950726 + Missense_Mutation SNP G G A TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr12:27950726G>A c.1145G>A c.(1144-1146)cGc>cAc p.R382H PCPG 12 27933767 27933767 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 g.chr12:27933767C>T c.504C>T c.(502-504)ctC>ctT p.L168L PCPG 12 27950726 27950726 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 g.chr12:27950726G>A c.1145G>A c.(1144-1146)cGc>cAc p.R382H PRAD 12 27934042 27934042 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 g.chr12:27934042G>A c.779G>A c.(778-780)gGg>gAg p.G260E READ 12 27933702 27933702 + Nonsense_Mutation SNP G G T TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr12:27933702G>T c.439G>T c.(439-441)Gag>Tag p.E147* READ 12 27944691 27944691 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr12:27944691G>A c.923G>A c.(922-924)gGg>gAg p.G308E READ 12 27950731 27950731 + Missense_Mutation SNP C C A TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr12:27950731C>A c.1150C>A c.(1150-1152)Cag>Aag p.Q384K SKCM 12 27944754 27944754 + Missense_Mutation SNP C C T TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr12:27944754C>T c.986C>T c.(985-987)cCc>cTc p.P329L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 27933588 27933588 single base substitution G A exon_variant BLCA-CN 12 27933588 27933588 single base substitution G A missense_variant A109T 325G>A BLCA-CN 12 27933588 27933588 single base substitution G A upstream_gene_variant BLCA-CN 12 27950726 27950726 single base substitution G A 3_prime_UTR_variant BLCA-CN 12 27950726 27950726 single base substitution G A missense_variant R382H 1145G>A BLCA-US 12 27933977 27933977 single base substitution C T exon_variant BLCA-US 12 27933977 27933977 single base substitution C T synonymous_variant P238P 714C>T BLCA-US 12 27933977 27933977 single base substitution C T synonymous_variant P59P 177C>T BRCA-EU 12 27928190 27928190 single base substitution T A upstream_gene_variant BRCA-EU 12 27928592 27928592 single base substitution C A upstream_gene_variant BRCA-EU 12 27928844 27928844 single base substitution G A upstream_gene_variant BRCA-EU 12 27929491 27929491 single base substitution C T upstream_gene_variant BRCA-EU 12 27930869 27930869 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 27934070 27934070 single base substitution C G exon_variant BRCA-EU 12 27934070 27934070 single base substitution C G synonymous_variant S269S 807C>G BRCA-EU 12 27934070 27934070 single base substitution C G synonymous_variant S90S 270C>G BRCA-EU 12 27936807 27936807 single base substitution G A intron_variant BRCA-EU 12 27936807 27936807 single base substitution G A upstream_gene_variant BRCA-EU 12 27936831 27936831 single base substitution T C intron_variant BRCA-EU 12 27936831 27936831 single base substitution T C upstream_gene_variant BRCA-EU 12 27938042 27938042 single base substitution G A intron_variant BRCA-EU 12 27938042 27938042 single base substitution G A upstream_gene_variant BRCA-EU 12 27938741 27938741 insertion of <=200bp - A intron_variant BRCA-EU 12 27938741 27938741 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 27938848 27938848 single base substitution C T intron_variant BRCA-EU 12 27938848 27938848 single base substitution C T upstream_gene_variant BRCA-EU 12 27938899 27938899 single base substitution A C intron_variant BRCA-EU 12 27938899 27938899 single base substitution A C upstream_gene_variant BRCA-EU 12 27940352 27940352 single base substitution C T intron_variant BRCA-EU 12 27940352 27940352 single base substitution C T upstream_gene_variant BRCA-EU 12 27940568 27940568 single base substitution C T exon_variant BRCA-EU 12 27940568 27940568 single base substitution C T intron_variant BRCA-EU 12 27940696 27940696 single base substitution G C exon_variant BRCA-EU 12 27940696 27940696 single base substitution G C intron_variant BRCA-EU 12 27941162 27941162 single base substitution A G intron_variant BRCA-EU 12 27941798 27941800 deletion of <=200bp TTC - intron_variant BRCA-EU 12 27942530 27942530 single base substitution T G intron_variant BRCA-EU 12 27943590 27943590 single base substitution C G intron_variant BRCA-EU 12 27944899 27944899 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 27944899 27944899 single base substitution G C downstream_gene_variant BRCA-EU 12 27944899 27944899 single base substitution G C intron_variant BRCA-EU 12 27946182 27946182 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 27946182 27946182 insertion of <=200bp - A intron_variant BRCA-EU 12 27946866 27946866 single base substitution A C downstream_gene_variant BRCA-EU 12 27946866 27946866 single base substitution A C intron_variant BRCA-EU 12 27947557 27947557 single base substitution G A downstream_gene_variant BRCA-EU 12 27947557 27947557 single base substitution G A intron_variant BRCA-EU 12 27947615 27947615 single base substitution A G downstream_gene_variant BRCA-EU 12 27947615 27947615 single base substitution A G intron_variant BRCA-EU 12 27947986 27947986 single base substitution T G downstream_gene_variant BRCA-EU 12 27947986 27947986 single base substitution T G intron_variant BRCA-EU 12 27948409 27948409 single base substitution G T downstream_gene_variant BRCA-EU 12 27948409 27948409 single base substitution G T intron_variant BRCA-EU 12 27949252 27949252 single base substitution G C downstream_gene_variant BRCA-EU 12 27949252 27949252 single base substitution G C intron_variant BRCA-EU 12 27950769 27950769 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 12 27950769 27950769 deletion of <=200bp G - frameshift_variant V396 BRCA-EU 12 27951290 27951290 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 27951290 27951290 single base substitution G A downstream_gene_variant BRCA-EU 12 27951753 27951753 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 27951753 27951753 single base substitution A T downstream_gene_variant BRCA-EU 12 27953330 27953330 single base substitution T C 3_prime_UTR_variant BRCA-EU 12 27953330 27953330 single base substitution T C downstream_gene_variant BRCA-EU 12 27955679 27955679 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 12 27955679 27955679 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 27955814 27955814 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 27955814 27955814 single base substitution G C downstream_gene_variant BRCA-EU 12 27957518 27957518 single base substitution T A downstream_gene_variant BRCA-EU 12 27957673 27957673 single base substitution C T downstream_gene_variant BRCA-EU 12 27957820 27957820 single base substitution T C downstream_gene_variant BRCA-EU 12 27957868 27957868 single base substitution T C downstream_gene_variant BRCA-EU 12 27958859 27958859 single base substitution A G downstream_gene_variant BRCA-EU 12 27959448 27959448 single base substitution C G downstream_gene_variant BRCA-FR 12 27928592 27928592 single base substitution C A upstream_gene_variant BRCA-FR 12 27929398 27929398 single base substitution C T upstream_gene_variant BRCA-FR 12 27940352 27940352 single base substitution C T intron_variant BRCA-FR 12 27940352 27940352 single base substitution C T upstream_gene_variant BRCA-FR 12 27942530 27942530 single base substitution T G intron_variant BRCA-FR 12 27944899 27944899 single base substitution G C 3_prime_UTR_variant BRCA-FR 12 27944899 27944899 single base substitution G C downstream_gene_variant BRCA-FR 12 27944899 27944899 single base substitution G C intron_variant BRCA-KR 12 27950321 27950321 single base substitution A G intron_variant BRCA-UK 12 27948409 27948409 single base substitution G T downstream_gene_variant BRCA-UK 12 27948409 27948409 single base substitution G T intron_variant BRCA-UK 12 27950715 27950715 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 27950715 27950715 single base substitution C T synonymous_variant D378D 1134C>T BRCA-US 12 27944828 27944828 single base substitution A G exon_variant BRCA-US 12 27944828 27944828 single base substitution A G missense_variant T175A 523A>G BRCA-US 12 27944828 27944828 single base substitution A G missense_variant T354A 1060A>G BRCA-US 12 27950768 27950768 insertion of <=200bp - G 3_prime_UTR_variant BRCA-US 12 27950768 27950768 insertion of <=200bp - G frameshift_variant V396G? BTCA-JP 12 27933692 27933692 single base substitution C T exon_variant BTCA-JP 12 27933692 27933692 single base substitution C T synonymous_variant P143P 429C>T BTCA-JP 12 27933692 27933692 single base substitution C T upstream_gene_variant BTCA-JP 12 27934041 27934041 single base substitution G A exon_variant BTCA-JP 12 27934041 27934041 single base substitution G A missense_variant G260R 778G>A BTCA-JP 12 27934041 27934041 single base substitution G A missense_variant G81R 241G>A CESC-US 12 27933812 27933812 single base substitution G C exon_variant CESC-US 12 27933812 27933812 single base substitution G C missense_variant Q183H 549G>C CESC-US 12 27933812 27933812 single base substitution G C missense_variant Q4H 12G>C CESC-US 12 27944650 27944650 single base substitution C G exon_variant CESC-US 12 27944650 27944650 single base substitution C G missense_variant F115L 345C>G CESC-US 12 27944650 27944650 single base substitution C G missense_variant F294L 882C>G CESC-US 12 27950964 27950964 single base substitution G A 3_prime_UTR_variant CESC-US 12 27950964 27950964 single base substitution G A synonymous_variant S461S 1383G>A CESC-US 12 27953641 27953641 insertion of <=200bp - A 3_prime_UTR_variant CESC-US 12 27953641 27953641 insertion of <=200bp - A downstream_gene_variant CLLE-ES 12 27934434 27934434 single base substitution G T intron_variant CLLE-ES 12 27947692 27947693 deletion of <=200bp TA - downstream_gene_variant CLLE-ES 12 27947692 27947693 deletion of <=200bp TA - intron_variant CLLE-ES 12 27950100 27950100 single base substitution G A intron_variant CLLE-ES 12 27953292 27953292 single base substitution T G 3_prime_UTR_variant CLLE-ES 12 27953292 27953292 single base substitution T G downstream_gene_variant COAD-US 12 27933782 27933782 single base substitution C A exon_variant COAD-US 12 27933782 27933782 single base substitution C A synonymous_variant P173P 519C>A COAD-US 12 27933782 27933782 single base substitution C A upstream_gene_variant COAD-US 12 27944771 27944771 single base substitution G A exon_variant COAD-US 12 27944771 27944771 single base substitution G A missense_variant A156T 466G>A COAD-US 12 27944771 27944771 single base substitution G A missense_variant A335T 1003G>A COAD-US 12 27950769 27950769 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 12 27950769 27950769 deletion of <=200bp G - frameshift_variant V396 COCA-CN 12 27931510 27931510 single base substitution C A upstream_gene_variant COCA-CN 12 27931511 27931511 single base substitution C A upstream_gene_variant COCA-CN 12 27944660 27944660 single base substitution G A exon_variant COCA-CN 12 27944660 27944660 single base substitution G A missense_variant A119T 355G>A COCA-CN 12 27944660 27944660 single base substitution G A missense_variant A298T 892G>A COCA-CN 12 27944805 27944805 single base substitution T A exon_variant COCA-CN 12 27944805 27944805 single base substitution T A missense_variant I167N 500T>A COCA-CN 12 27944805 27944805 single base substitution T A missense_variant I346N 1037T>A COCA-CN 12 27944858 27944858 single base substitution G A 3_prime_UTR_variant COCA-CN 12 27944858 27944858 single base substitution G A exon_variant COCA-CN 12 27944858 27944858 single base substitution G A intron_variant COCA-CN 12 27950161 27950161 single base substitution G A intron_variant COCA-CN 12 27950299 27950299 single base substitution T C intron_variant COCA-CN 12 27950725 27950725 single base substitution C T 3_prime_UTR_variant COCA-CN 12 27950725 27950725 single base substitution C T missense_variant R382C 1144C>T COCA-CN 12 27950850 27950850 single base substitution C T 3_prime_UTR_variant COCA-CN 12 27950850 27950850 single base substitution C T synonymous_variant T423T 1269C>T COCA-CN 12 27950926 27950926 single base substitution G A 3_prime_UTR_variant COCA-CN 12 27950926 27950926 single base substitution G A missense_variant D449N 1345G>A EOPC-DE 12 27937066 27937066 single base substitution G T intron_variant EOPC-DE 12 27937066 27937066 single base substitution G T upstream_gene_variant EOPC-DE 12 27945005 27945005 single base substitution G C 3_prime_UTR_variant EOPC-DE 12 27945005 27945005 single base substitution G C downstream_gene_variant EOPC-DE 12 27945005 27945005 single base substitution G C intron_variant EOPC-DE 12 27945032 27945032 single base substitution G A 3_prime_UTR_variant EOPC-DE 12 27945032 27945032 single base substitution G A downstream_gene_variant EOPC-DE 12 27945032 27945032 single base substitution G A intron_variant ESAD-UK 12 27929984 27929984 single base substitution A G upstream_gene_variant ESAD-UK 12 27930082 27930082 single base substitution C T upstream_gene_variant ESAD-UK 12 27931124 27931124 single base substitution C A upstream_gene_variant ESAD-UK 12 27931501 27931501 single base substitution A T upstream_gene_variant ESAD-UK 12 27935830 27935830 single base substitution C T intron_variant ESAD-UK 12 27935830 27935830 single base substitution C T upstream_gene_variant ESAD-UK 12 27939317 27939317 single base substitution G A intron_variant ESAD-UK 12 27939317 27939317 single base substitution G A upstream_gene_variant ESAD-UK 12 27939893 27939893 single base substitution C T intron_variant ESAD-UK 12 27939893 27939893 single base substitution C T upstream_gene_variant ESAD-UK 12 27940203 27940203 single base substitution G A intron_variant ESAD-UK 12 27940203 27940203 single base substitution G A upstream_gene_variant ESAD-UK 12 27946122 27946122 single base substitution T A downstream_gene_variant ESAD-UK 12 27946122 27946122 single base substitution T A intron_variant ESAD-UK 12 27946547 27946547 single base substitution C G downstream_gene_variant ESAD-UK 12 27946547 27946547 single base substitution C G intron_variant ESAD-UK 12 27949743 27949743 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 27949743 27949743 deletion of <=200bp T - intron_variant ESAD-UK 12 27950067 27950067 single base substitution C A downstream_gene_variant ESAD-UK 12 27950067 27950067 single base substitution C A intron_variant ESAD-UK 12 27952088 27952088 single base substitution T A 3_prime_UTR_variant ESAD-UK 12 27952088 27952088 single base substitution T A downstream_gene_variant ESAD-UK 12 27952472 27952472 single base substitution T G 3_prime_UTR_variant ESAD-UK 12 27952472 27952472 single base substitution T G downstream_gene_variant ESAD-UK 12 27952483 27952483 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 27952483 27952483 single base substitution A G downstream_gene_variant ESAD-UK 12 27954355 27954355 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 27954355 27954355 single base substitution C T downstream_gene_variant ESAD-UK 12 27955050 27955050 single base substitution C G 3_prime_UTR_variant ESAD-UK 12 27955050 27955050 single base substitution C G downstream_gene_variant ESAD-UK 12 27955084 27955084 single base substitution C G 3_prime_UTR_variant ESAD-UK 12 27955084 27955084 single base substitution C G downstream_gene_variant ESAD-UK 12 27955679 27955679 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 12 27955679 27955679 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 27956697 27956697 single base substitution G T downstream_gene_variant ESAD-UK 12 27957195 27957195 single base substitution C T downstream_gene_variant ESAD-UK 12 27957518 27957518 single base substitution T A downstream_gene_variant ESAD-UK 12 27957675 27957675 single base substitution G A downstream_gene_variant ESAD-UK 12 27958017 27958017 single base substitution C G downstream_gene_variant ESAD-UK 12 27958021 27958021 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 27960937 27960937 single base substitution G T downstream_gene_variant ESCA-CN 12 27933725 27933725 single base substitution C G exon_variant ESCA-CN 12 27933725 27933725 single base substitution C G synonymous_variant V154V 462C>G ESCA-CN 12 27933725 27933725 single base substitution C G upstream_gene_variant ESCA-CN 12 27933791 27933791 single base substitution A T exon_variant ESCA-CN 12 27933791 27933791 single base substitution A T synonymous_variant P176P 528A>T ESCA-CN 12 27933791 27933791 single base substitution A T upstream_gene_variant KIRC-US 12 27933951 27933951 single base substitution T C exon_variant KIRC-US 12 27933951 27933951 single base substitution T C missense_variant F230L 688T>C KIRC-US 12 27933951 27933951 single base substitution T C missense_variant F51L 151T>C KIRC-US 12 27944776 27944776 single base substitution G A exon_variant KIRC-US 12 27944776 27944776 single base substitution G A synonymous_variant E157E 471G>A KIRC-US 12 27944776 27944776 single base substitution G A synonymous_variant E336E 1008G>A KIRC-US 12 27950786 27950786 single base substitution A T 3_prime_UTR_variant KIRC-US 12 27950786 27950786 single base substitution A T missense_variant E402V 1205A>T LAML-KR 12 27953292 27953292 single base substitution T G 3_prime_UTR_variant LAML-KR 12 27953292 27953292 single base substitution T G downstream_gene_variant LICA-FR 12 27932288 27932288 single base substitution G A upstream_gene_variant LICA-FR 12 27933407 27933407 single base substitution C A exon_variant LICA-FR 12 27933407 27933407 single base substitution C A synonymous_variant G48G 144C>A LICA-FR 12 27933407 27933407 single base substitution C A upstream_gene_variant LICA-FR 12 27944670 27944670 single base substitution C G exon_variant LICA-FR 12 27944670 27944670 single base substitution C G stop_gained S122* 365C>G LICA-FR 12 27944670 27944670 single base substitution C G stop_gained S301* 902C>G LICA-FR 12 27953292 27953292 single base substitution T G 3_prime_UTR_variant LICA-FR 12 27953292 27953292 single base substitution T G downstream_gene_variant LICA-FR 12 27956716 27956716 single base substitution G T downstream_gene_variant LINC-JP 12 27957152 27957152 single base substitution C A downstream_gene_variant LIRI-JP 12 27928206 27928206 single base substitution G C upstream_gene_variant LIRI-JP 12 27930299 27930299 single base substitution A T upstream_gene_variant LIRI-JP 12 27932617 27932617 single base substitution T G upstream_gene_variant LIRI-JP 12 27934363 27934363 single base substitution A G intron_variant LIRI-JP 12 27938443 27938443 single base substitution A G intron_variant LIRI-JP 12 27938443 27938443 single base substitution A G upstream_gene_variant LIRI-JP 12 27939315 27939315 single base substitution A G intron_variant LIRI-JP 12 27939315 27939315 single base substitution A G upstream_gene_variant LIRI-JP 12 27941033 27941033 single base substitution G T exon_variant LIRI-JP 12 27941033 27941033 single base substitution G T intron_variant LIRI-JP 12 27941372 27941372 single base substitution A G intron_variant LIRI-JP 12 27942972 27942972 single base substitution G A intron_variant LIRI-JP 12 27943227 27943227 single base substitution C A intron_variant LIRI-JP 12 27944385 27944385 single base substitution A T intron_variant LIRI-JP 12 27944800 27944800 single base substitution A G exon_variant LIRI-JP 12 27944800 27944800 single base substitution A G synonymous_variant G165G 495A>G LIRI-JP 12 27944800 27944800 single base substitution A G synonymous_variant G344G 1032A>G LIRI-JP 12 27948057 27948057 single base substitution C G downstream_gene_variant LIRI-JP 12 27948057 27948057 single base substitution C G intron_variant LIRI-JP 12 27949024 27949024 single base substitution A G downstream_gene_variant LIRI-JP 12 27949024 27949024 single base substitution A G intron_variant LIRI-JP 12 27949559 27949560 deletion of <=200bp AA - downstream_gene_variant LIRI-JP 12 27949559 27949560 deletion of <=200bp AA - intron_variant LIRI-JP 12 27951500 27951500 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 27951500 27951500 single base substitution G A downstream_gene_variant LIRI-JP 12 27956499 27956499 single base substitution T C downstream_gene_variant LIRI-JP 12 27957245 27957245 single base substitution T A downstream_gene_variant LUSC-KR 12 27931900 27931900 single base substitution C A upstream_gene_variant LUSC-KR 12 27934042 27934042 single base substitution G T exon_variant LUSC-KR 12 27934042 27934042 single base substitution G T missense_variant G260V 779G>T LUSC-KR 12 27934042 27934042 single base substitution G T missense_variant G81V 242G>T LUSC-KR 12 27940204 27940204 single base substitution G A intron_variant LUSC-KR 12 27940204 27940204 single base substitution G A upstream_gene_variant LUSC-KR 12 27946400 27946400 single base substitution A G downstream_gene_variant LUSC-KR 12 27946400 27946400 single base substitution A G intron_variant LUSC-KR 12 27948737 27948737 single base substitution G A downstream_gene_variant LUSC-KR 12 27948737 27948737 single base substitution G A intron_variant LUSC-KR 12 27952707 27952707 single base substitution T C 3_prime_UTR_variant LUSC-KR 12 27952707 27952707 single base substitution T C downstream_gene_variant LUSC-KR 12 27953675 27953675 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 27953675 27953675 single base substitution C T downstream_gene_variant LUSC-KR 12 27954390 27954390 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 27954390 27954390 single base substitution C G downstream_gene_variant LUSC-KR 12 27954507 27954507 single base substitution T C 3_prime_UTR_variant LUSC-KR 12 27954507 27954507 single base substitution T C downstream_gene_variant LUSC-KR 12 27958914 27958914 single base substitution G T downstream_gene_variant LUSC-US 12 27933843 27933843 single base substitution C T exon_variant LUSC-US 12 27933843 27933843 single base substitution C T missense_variant P15S 43C>T LUSC-US 12 27933843 27933843 single base substitution C T missense_variant P194S 580C>T LUSC-US 12 27950784 27950784 single base substitution C T 3_prime_UTR_variant LUSC-US 12 27950784 27950784 single base substitution C T synonymous_variant H401H 1203C>T LUSC-US 12 27950953 27950953 single base substitution G T 3_prime_UTR_variant LUSC-US 12 27950953 27950953 single base substitution G T missense_variant V458F 1372G>T MALY-DE 12 27927958 27927958 insertion of <=200bp - AAAT upstream_gene_variant MALY-DE 12 27929697 27929700 deletion of <=200bp AAAT - upstream_gene_variant MALY-DE 12 27933335 27933335 single base substitution C A exon_variant MALY-DE 12 27933335 27933335 single base substitution C A synonymous_variant I24I 72C>A MALY-DE 12 27933335 27933335 single base substitution C A upstream_gene_variant MALY-DE 12 27944257 27944257 single base substitution C G intron_variant MALY-DE 12 27945885 27945885 insertion of <=200bp - TGTTGC downstream_gene_variant MALY-DE 12 27945885 27945885 insertion of <=200bp - TGTTGC intron_variant MALY-DE 12 27947976 27947976 single base substitution T C downstream_gene_variant MALY-DE 12 27947976 27947976 single base substitution T C intron_variant MALY-DE 12 27951907 27951907 single base substitution T G 3_prime_UTR_variant MALY-DE 12 27951907 27951907 single base substitution T G downstream_gene_variant MALY-DE 12 27955048 27955048 single base substitution A G 3_prime_UTR_variant MALY-DE 12 27955048 27955048 single base substitution A G downstream_gene_variant MALY-DE 12 27958607 27958607 single base substitution C T downstream_gene_variant MALY-DE 12 27960536 27960536 single base substitution A G downstream_gene_variant MELA-AU 12 27928013 27928013 single base substitution C T upstream_gene_variant MELA-AU 12 27928233 27928233 single base substitution G A upstream_gene_variant MELA-AU 12 27928315 27928315 single base substitution C T upstream_gene_variant MELA-AU 12 27928322 27928322 single base substitution G A upstream_gene_variant MELA-AU 12 27928508 27928508 single base substitution A T upstream_gene_variant MELA-AU 12 27928580 27928580 single base substitution C T upstream_gene_variant MELA-AU 12 27928595 27928595 single base substitution A G upstream_gene_variant MELA-AU 12 27928932 27928932 single base substitution A G upstream_gene_variant MELA-AU 12 27929994 27929994 single base substitution A T upstream_gene_variant MELA-AU 12 27931146 27931146 single base substitution G A upstream_gene_variant MELA-AU 12 27931820 27931820 single base substitution G A upstream_gene_variant MELA-AU 12 27931825 27931826 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 27932028 27932028 single base substitution C T upstream_gene_variant MELA-AU 12 27932583 27932583 single base substitution G A upstream_gene_variant MELA-AU 12 27933516 27933516 single base substitution G A exon_variant MELA-AU 12 27933516 27933516 single base substitution G A missense_variant E85K 253G>A MELA-AU 12 27933516 27933516 single base substitution G A upstream_gene_variant MELA-AU 12 27934468 27934468 single base substitution A T intron_variant MELA-AU 12 27935540 27935540 single base substitution C T intron_variant MELA-AU 12 27937415 27937415 single base substitution T C intron_variant MELA-AU 12 27937415 27937415 single base substitution T C upstream_gene_variant MELA-AU 12 27937773 27937773 single base substitution C T intron_variant MELA-AU 12 27937773 27937773 single base substitution C T upstream_gene_variant MELA-AU 12 27938041 27938041 single base substitution C T intron_variant MELA-AU 12 27938041 27938041 single base substitution C T upstream_gene_variant MELA-AU 12 27938092 27938092 single base substitution G A intron_variant MELA-AU 12 27938092 27938092 single base substitution G A upstream_gene_variant MELA-AU 12 27938128 27938128 single base substitution C T intron_variant MELA-AU 12 27938128 27938128 single base substitution C T upstream_gene_variant MELA-AU 12 27938330 27938330 single base substitution G A intron_variant MELA-AU 12 27938330 27938330 single base substitution G A upstream_gene_variant MELA-AU 12 27938485 27938485 single base substitution C T intron_variant MELA-AU 12 27938485 27938485 single base substitution C T upstream_gene_variant MELA-AU 12 27938928 27938928 single base substitution T C intron_variant MELA-AU 12 27938928 27938928 single base substitution T C upstream_gene_variant MELA-AU 12 27939155 27939155 single base substitution C T intron_variant MELA-AU 12 27939155 27939155 single base substitution C T upstream_gene_variant MELA-AU 12 27939686 27939686 single base substitution C T intron_variant MELA-AU 12 27939686 27939686 single base substitution C T upstream_gene_variant MELA-AU 12 27940539 27940539 single base substitution C T intron_variant MELA-AU 12 27940539 27940539 single base substitution C T upstream_gene_variant MELA-AU 12 27940613 27940613 single base substitution T C exon_variant MELA-AU 12 27940613 27940613 single base substitution T C intron_variant MELA-AU 12 27940614 27940614 single base substitution C T exon_variant MELA-AU 12 27940614 27940614 single base substitution C T intron_variant MELA-AU 12 27940964 27940964 single base substitution C T exon_variant MELA-AU 12 27940964 27940964 single base substitution C T intron_variant MELA-AU 12 27941395 27941395 single base substitution C T intron_variant MELA-AU 12 27942419 27942419 single base substitution C T intron_variant MELA-AU 12 27942608 27942608 single base substitution C T intron_variant MELA-AU 12 27942864 27942864 single base substitution T A intron_variant MELA-AU 12 27943006 27943006 single base substitution C T intron_variant MELA-AU 12 27943558 27943558 single base substitution C T intron_variant MELA-AU 12 27943725 27943725 single base substitution C T intron_variant MELA-AU 12 27944573 27944573 single base substitution C T intron_variant MELA-AU 12 27945661 27945661 single base substitution G A downstream_gene_variant MELA-AU 12 27945661 27945661 single base substitution G A intron_variant MELA-AU 12 27948233 27948233 single base substitution C T downstream_gene_variant MELA-AU 12 27948233 27948233 single base substitution C T intron_variant MELA-AU 12 27948273 27948273 single base substitution C T downstream_gene_variant MELA-AU 12 27948273 27948273 single base substitution C T intron_variant MELA-AU 12 27948982 27948982 single base substitution C T downstream_gene_variant MELA-AU 12 27948982 27948982 single base substitution C T intron_variant MELA-AU 12 27949545 27949545 single base substitution C T downstream_gene_variant MELA-AU 12 27949545 27949545 single base substitution C T intron_variant MELA-AU 12 27949762 27949762 single base substitution G A downstream_gene_variant MELA-AU 12 27949762 27949762 single base substitution G A intron_variant MELA-AU 12 27949769 27949769 single base substitution C T downstream_gene_variant MELA-AU 12 27949769 27949769 single base substitution C T intron_variant MELA-AU 12 27950310 27950310 single base substitution C T intron_variant MELA-AU 12 27950766 27950766 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27950766 27950766 single base substitution C T synonymous_variant I395I 1185C>T MELA-AU 12 27950797 27950797 single base substitution A T 3_prime_UTR_variant MELA-AU 12 27950797 27950797 single base substitution A T missense_variant N406Y 1216A>T MELA-AU 12 27950919 27950919 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27950919 27950919 single base substitution C T synonymous_variant L446L 1338C>T MELA-AU 12 27951433 27951433 single base substitution G A 3_prime_UTR_variant MELA-AU 12 27951433 27951433 single base substitution G A downstream_gene_variant MELA-AU 12 27952483 27952483 single base substitution A G 3_prime_UTR_variant MELA-AU 12 27952483 27952483 single base substitution A G downstream_gene_variant MELA-AU 12 27952996 27952996 single base substitution T C 3_prime_UTR_variant MELA-AU 12 27952996 27952996 single base substitution T C downstream_gene_variant MELA-AU 12 27953679 27953679 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27953679 27953679 single base substitution C T downstream_gene_variant MELA-AU 12 27953755 27953755 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27953755 27953755 single base substitution C T downstream_gene_variant MELA-AU 12 27954405 27954405 single base substitution G T 3_prime_UTR_variant MELA-AU 12 27954405 27954405 single base substitution G T downstream_gene_variant MELA-AU 12 27954485 27954485 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27954485 27954485 single base substitution C T downstream_gene_variant MELA-AU 12 27955329 27955329 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27955329 27955329 single base substitution C T downstream_gene_variant MELA-AU 12 27955521 27955521 single base substitution C T 3_prime_UTR_variant MELA-AU 12 27955521 27955521 single base substitution C T downstream_gene_variant MELA-AU 12 27956197 27956197 single base substitution G A downstream_gene_variant MELA-AU 12 27957217 27957217 single base substitution G A downstream_gene_variant MELA-AU 12 27957285 27957285 single base substitution C A downstream_gene_variant MELA-AU 12 27957849 27957849 deletion of <=200bp T - downstream_gene_variant MELA-AU 12 27958053 27958053 single base substitution C T downstream_gene_variant MELA-AU 12 27958075 27958075 single base substitution A G downstream_gene_variant MELA-AU 12 27958265 27958265 single base substitution C T downstream_gene_variant MELA-AU 12 27958501 27958501 single base substitution C T downstream_gene_variant MELA-AU 12 27958826 27958826 single base substitution G A downstream_gene_variant MELA-AU 12 27959217 27959217 single base substitution G A downstream_gene_variant MELA-AU 12 27959322 27959322 single base substitution C T downstream_gene_variant MELA-AU 12 27959654 27959654 single base substitution G A downstream_gene_variant ORCA-IN 12 27933749 27933749 single base substitution C A exon_variant ORCA-IN 12 27933749 27933749 single base substitution C A stop_gained C162* 486C>A ORCA-IN 12 27933749 27933749 single base substitution C A upstream_gene_variant ORCA-IN 12 27933986 27933986 single base substitution C A exon_variant ORCA-IN 12 27933986 27933986 single base substitution C A synonymous_variant V241V 723C>A ORCA-IN 12 27933986 27933986 single base substitution C A synonymous_variant V62V 186C>A ORCA-IN 12 27934106 27934106 single base substitution G T exon_variant ORCA-IN 12 27934106 27934106 single base substitution G T missense_variant W102C 306G>T ORCA-IN 12 27934106 27934106 single base substitution G T missense_variant W281C 843G>T ORCA-IN 12 27950650 27950650 single base substitution C G missense_variant R357G 1069C>G ORCA-IN 12 27950650 27950650 single base substitution C G splice_region_variant ORCA-IN 12 27950886 27950886 single base substitution G A 3_prime_UTR_variant ORCA-IN 12 27950886 27950886 single base substitution G A synonymous_variant T435T 1305G>A ORCA-IN 12 27950952 27950952 single base substitution C T 3_prime_UTR_variant ORCA-IN 12 27950952 27950952 single base substitution C T synonymous_variant D457D 1371C>T OV-AU 12 27934302 27934302 single base substitution A G intron_variant OV-AU 12 27943321 27943321 single base substitution C A intron_variant OV-AU 12 27945541 27945541 single base substitution C G downstream_gene_variant OV-AU 12 27945541 27945541 single base substitution C G intron_variant OV-AU 12 27951518 27951518 single base substitution A C 3_prime_UTR_variant OV-AU 12 27951518 27951518 single base substitution A C downstream_gene_variant OV-AU 12 27952235 27952235 single base substitution G T 3_prime_UTR_variant OV-AU 12 27952235 27952235 single base substitution G T downstream_gene_variant PACA-AU 12 27928723 27928723 single base substitution T A upstream_gene_variant PACA-AU 12 27930583 27930583 deletion of <=200bp T - upstream_gene_variant PACA-AU 12 27931959 27931959 single base substitution G A upstream_gene_variant PACA-AU 12 27943739 27943739 single base substitution A T intron_variant PACA-AU 12 27953292 27953292 single base substitution T G 3_prime_UTR_variant PACA-AU 12 27953292 27953292 single base substitution T G downstream_gene_variant PACA-AU 12 27959063 27959063 single base substitution A G downstream_gene_variant PACA-AU 12 27959777 27959777 single base substitution G A downstream_gene_variant PACA-AU 12 27959782 27959782 single base substitution A T downstream_gene_variant PACA-AU 12 27960162 27960162 single base substitution C T downstream_gene_variant PACA-CA 12 27928715 27928715 single base substitution A T upstream_gene_variant PACA-CA 12 27933361 27933361 single base substitution T C exon_variant PACA-CA 12 27933361 27933361 single base substitution T C missense_variant L33P 98T>C PACA-CA 12 27933361 27933361 single base substitution T C upstream_gene_variant PACA-CA 12 27933919 27933919 single base substitution T C exon_variant PACA-CA 12 27933919 27933919 single base substitution T C missense_variant M219T 656T>C PACA-CA 12 27933919 27933919 single base substitution T C missense_variant M40T 119T>C PACA-CA 12 27934474 27934474 single base substitution T A intron_variant PACA-CA 12 27935134 27935134 single base substitution C G intron_variant PACA-CA 12 27944602 27944602 single base substitution G A intron_variant PACA-CA 12 27950068 27950068 single base substitution A C downstream_gene_variant PACA-CA 12 27950068 27950068 single base substitution A C intron_variant PACA-CA 12 27951667 27951667 single base substitution C T 3_prime_UTR_variant PACA-CA 12 27951667 27951667 single base substitution C T downstream_gene_variant PACA-CA 12 27955975 27955975 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 27957868 27957868 single base substitution T C downstream_gene_variant PAEN-AU 12 27944470 27944470 single base substitution A T intron_variant PAEN-IT 12 27928157 27928157 single base substitution C A upstream_gene_variant PBCA-DE 12 27944550 27944550 single base substitution A G intron_variant PBCA-DE 12 27948308 27948308 single base substitution G C downstream_gene_variant PBCA-DE 12 27948308 27948308 single base substitution G C intron_variant PBCA-DE 12 27952147 27952147 single base substitution G T 3_prime_UTR_variant PBCA-DE 12 27952147 27952147 single base substitution G T downstream_gene_variant PBCA-DE 12 27956006 27956006 single base substitution C T downstream_gene_variant PRAD-CA 12 27948340 27948340 single base substitution C T downstream_gene_variant PRAD-CA 12 27948340 27948340 single base substitution C T intron_variant PRAD-CA 12 27953307 27953307 single base substitution A G 3_prime_UTR_variant PRAD-CA 12 27953307 27953307 single base substitution A G downstream_gene_variant PRAD-UK 12 27933306 27933306 single base substitution T A exon_variant PRAD-UK 12 27933306 27933306 single base substitution T A missense_variant C15S 43T>A PRAD-UK 12 27933306 27933306 single base substitution T A upstream_gene_variant PRAD-UK 12 27934803 27934803 single base substitution C G intron_variant PRAD-UK 12 27945377 27945377 single base substitution G A downstream_gene_variant PRAD-UK 12 27945377 27945377 single base substitution G A intron_variant PRAD-US 12 27934042 27934042 single base substitution G A exon_variant PRAD-US 12 27934042 27934042 single base substitution G A missense_variant G260E 779G>A PRAD-US 12 27934042 27934042 single base substitution G A missense_variant G81E 242G>A READ-US 12 27933702 27933702 single base substitution G T exon_variant READ-US 12 27933702 27933702 single base substitution G T stop_gained E147* 439G>T READ-US 12 27933702 27933702 single base substitution G T upstream_gene_variant READ-US 12 27944647 27944647 single base substitution C T exon_variant READ-US 12 27944647 27944647 single base substitution C T synonymous_variant N114N 342C>T READ-US 12 27944647 27944647 single base substitution C T synonymous_variant N293N 879C>T READ-US 12 27950754 27950754 single base substitution G A 3_prime_UTR_variant READ-US 12 27950754 27950754 single base substitution G A synonymous_variant E391E 1173G>A RECA-EU 12 27942151 27942151 single base substitution G T intron_variant RECA-EU 12 27944752 27944752 single base substitution G T exon_variant RECA-EU 12 27944752 27944752 single base substitution G T synonymous_variant A149A 447G>T RECA-EU 12 27944752 27944752 single base substitution G T synonymous_variant A328A 984G>T RECA-EU 12 27951896 27951896 single base substitution A G 3_prime_UTR_variant RECA-EU 12 27951896 27951896 single base substitution A G downstream_gene_variant RECA-EU 12 27953288 27953288 single base substitution T G 3_prime_UTR_variant RECA-EU 12 27953288 27953288 single base substitution T G downstream_gene_variant RECA-EU 12 27955616 27955616 single base substitution T A 3_prime_UTR_variant RECA-EU 12 27955616 27955616 single base substitution T A downstream_gene_variant SKCA-BR 12 27927956 27927960 deletion of <=200bp CAAAA - upstream_gene_variant SKCA-BR 12 27929065 27929065 single base substitution G A upstream_gene_variant SKCA-BR 12 27931154 27931154 single base substitution G A upstream_gene_variant SKCA-BR 12 27931158 27931158 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 27931427 27931427 single base substitution G A upstream_gene_variant SKCA-BR 12 27934227 27934227 single base substitution G T intron_variant SKCA-BR 12 27936290 27936290 single base substitution C T intron_variant SKCA-BR 12 27936290 27936290 single base substitution C T upstream_gene_variant SKCA-BR 12 27936297 27936297 single base substitution T A intron_variant SKCA-BR 12 27936297 27936297 single base substitution T A upstream_gene_variant SKCA-BR 12 27936648 27936648 single base substitution G A intron_variant SKCA-BR 12 27936648 27936648 single base substitution G A upstream_gene_variant SKCA-BR 12 27938129 27938129 single base substitution C T intron_variant SKCA-BR 12 27938129 27938129 single base substitution C T upstream_gene_variant SKCA-BR 12 27939947 27939947 single base substitution C T intron_variant SKCA-BR 12 27939947 27939947 single base substitution C T upstream_gene_variant SKCA-BR 12 27940427 27940428 deletion of <=200bp CA - intron_variant SKCA-BR 12 27940427 27940428 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 12 27940458 27940458 single base substitution C T intron_variant SKCA-BR 12 27940458 27940458 single base substitution C T upstream_gene_variant SKCA-BR 12 27941619 27941619 single base substitution C T intron_variant SKCA-BR 12 27944474 27944474 single base substitution A C intron_variant SKCA-BR 12 27945564 27945564 single base substitution C T downstream_gene_variant SKCA-BR 12 27945564 27945564 single base substitution C T intron_variant SKCA-BR 12 27947177 27947177 single base substitution C T downstream_gene_variant SKCA-BR 12 27947177 27947177 single base substitution C T intron_variant SKCA-BR 12 27948206 27948206 single base substitution C T downstream_gene_variant SKCA-BR 12 27948206 27948206 single base substitution C T intron_variant SKCA-BR 12 27950258 27950258 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 27950258 27950258 single base substitution G A intron_variant SKCA-BR 12 27953013 27953013 single base substitution T G 3_prime_UTR_variant SKCA-BR 12 27953013 27953013 single base substitution T G downstream_gene_variant SKCA-BR 12 27953281 27953281 insertion of <=200bp - GTGTGT 3_prime_UTR_variant SKCA-BR 12 27953281 27953281 insertion of <=200bp - GTGTGT downstream_gene_variant SKCA-BR 12 27953282 27953282 single base substitution G T 3_prime_UTR_variant SKCA-BR 12 27953282 27953282 single base substitution G T downstream_gene_variant SKCA-BR 12 27953699 27953699 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 27953699 27953699 single base substitution C T downstream_gene_variant SKCA-BR 12 27957518 27957518 single base substitution T A downstream_gene_variant SKCA-BR 12 27960419 27960419 insertion of <=200bp - TA downstream_gene_variant SKCM-US 12 27944754 27944754 single base substitution C T exon_variant SKCM-US 12 27944754 27944754 single base substitution C T missense_variant P150L 449C>T SKCM-US 12 27944754 27944754 single base substitution C T missense_variant P329L 986C>T STAD-US 12 27944677 27944677 single base substitution C G exon_variant STAD-US 12 27944677 27944677 single base substitution C G synonymous_variant L124L 372C>G STAD-US 12 27944677 27944677 single base substitution C G synonymous_variant L303L 909C>G STAD-US 12 27950767 27950767 single base substitution G A 3_prime_UTR_variant STAD-US 12 27950767 27950767 single base substitution G A missense_variant V396M 1186G>A STAD-US 12 27950929 27950929 single base substitution G A 3_prime_UTR_variant STAD-US 12 27950929 27950929 single base substitution G A missense_variant G450S 1348G>A STAD-US 12 27950952 27950952 single base substitution C T 3_prime_UTR_variant STAD-US 12 27950952 27950952 single base substitution C T synonymous_variant D457D 1371C>T THCA-SA 12 27952660 27952660 single base substitution C T 3_prime_UTR_variant THCA-SA 12 27952660 27952660 single base substitution C T downstream_gene_variant UCEC-US 12 27933944 27933944 single base substitution G A exon_variant UCEC-US 12 27933944 27933944 single base substitution G A synonymous_variant E227E 681G>A UCEC-US 12 27933944 27933944 single base substitution G A synonymous_variant E48E 144G>A UCEC-US 12 27934137 27934137 single base substitution T G splice_donor_variant UCEC-US 12 27944687 27944687 single base substitution G A exon_variant UCEC-US 12 27944687 27944687 single base substitution G A missense_variant G128R 382G>A UCEC-US 12 27944687 27944687 single base substitution G A missense_variant G307R 919G>A UCEC-US 12 27950717 27950717 single base substitution T C 3_prime_UTR_variant UCEC-US 12 27950717 27950717 single base substitution T C missense_variant V379A 1136T>C UCEC-US 12 27950766 27950766 single base substitution C T 3_prime_UTR_variant UCEC-US 12 27950766 27950766 single base substitution C T synonymous_variant I395I 1185C>T UCEC-US 12 27950922 27950922 single base substitution T A 3_prime_UTR_variant UCEC-US 12 27950922 27950922 single base substitution T A missense_variant H447Q 1341T>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C0065T COSM4152788 c.984G>T p.A328A Substitution - coding silent 12:27791819-27791819 + OSCC-GB_00290111 COSM3710631 c.1371C>T p.D457D Substitution - coding silent 12:27798019-27798019 + TCGA-ER-A1A1-06 COSM3459957 c.986C>T p.P329L Substitution - Missense 12:27791821-27791821 + TCGA-51-4079-01 COSM693472 c.580C>T p.P194S Substitution - Missense 12:27780910-27780910 + TCGA-AG-3882-01 COSM5051532 c.1187_1188insG p.C399fs*43 Insertion - Frameshift 12:27797835-27797836 + OSCC-GB_00570111 COSM4889920 c.723C>A p.V241V Substitution - coding silent 12:27781053-27781053 + 43T COSM3710630 c.1069C>G p.R357G Substitution - Missense 12:27797717-27797717 + SJRHB006_D COSM3737466 c.1048G>C p.G350R Substitution - Missense 12:27791883-27791883 + TCGA-AD-5900-01 COSM1361117 c.1003G>A p.A335T Substitution - Missense 12:27791838-27791838 + TCGA-F5-6814-01 COSM3416770 c.1173G>A p.E391E Substitution - coding silent 12:27797821-27797821 + TCGA-HU-A4GU-01 COSM3710631 c.1371C>T p.D457D Substitution - coding silent 12:27798019-27798019 + CHC1712T COSM4792016 c.144C>A p.G48G Substitution - coding silent 12:27780474-27780474 + T3503 COSM4696401 c.1135G>A p.V379I Substitution - Missense 12:27797783-27797783 + 254 COSM3731623 c.1083T>G p.I361M Substitution - Missense 12:27797731-27797731 + TCGA-AG-3726-01 COSM5051532 c.1187_1188insG p.C399fs*43 Insertion - Frameshift 12:27797835-27797836 + CHC1040T COSM4425127 c.902C>G p.S301* Substitution - Nonsense 12:27791737-27791737 + TCGA-BR-4292-01 COSM4041222 c.1348G>A p.G450S Substitution - Missense 12:27797996-27797996 + 29T COSM3710631 c.1371C>T p.D457D Substitution - coding silent 12:27798019-27798019 + TCGA-AP-A056-01 COSM938486 c.681G>A p.E227E Substitution - coding silent 12:27781011-27781011 + TCGA-DK-A1A3-01 COSM415899 c.714C>T p.P238P Substitution - coding silent 12:27781044-27781044 + ESCC_BICR_008T COSM5428799 c.462C>G p.V154V Substitution - coding silent 12:27780792-27780792 + 433 COSM4433632 c.675G>A p.M225I Substitution - Missense 12:27781005-27781005 + OSCC-GB_00930111 COSM4888223 c.843G>T p.W281C Substitution - Missense 12:27781173-27781173 + CSCC-27-T COSM4463339 c.1287C>T p.L429L Substitution - coding silent 12:27797935-27797935 + CHC1712T COSM4792016 c.144C>A p.G48G Substitution - coding silent 12:27780474-27780474 + T3064 COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 + EGC8 COSM5051532 c.1187_1188insG p.C399fs*43 Insertion - Frameshift 12:27797835-27797836 + sysucc-274T COSM5475643 c.1269C>T p.T423T Substitution - coding silent 12:27797917-27797917 + TCGA-AR-A0TY-01 COSM5051532 c.1187_1188insG p.C399fs*43 Insertion - Frameshift 12:27797835-27797836 + TCGA-EK-A2RJ-01 COSM4831873 c.1383G>A p.S461S Substitution - coding silent 12:27798031-27798031 + TCGA-BG-A18A-01 COSM938489 c.1136T>C p.V379A Substitution - Missense 12:27797784-27797784 + TCGA-39-5027-01 COSM693471 c.1203C>T p.H401H Substitution - coding silent 12:27797851-27797851 + TCGA-AG-A02N-01 COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 + sysucc-1317T COSM5448444 c.892G>A p.A298T Substitution - Missense 12:27791727-27791727 + TCGA-CG-5728-01 COSM4041221 c.1186G>A p.V396M Substitution - Missense 12:27797834-27797834 + J30_T COSM3954616 c.779G>T p.G260V Substitution - Missense 12:27781109-27781109 + TCGA-AP-A0LP-01 COSM938487 c.872+2T>G p.? Unknown 12:27781204-27781204 + OSCC-GB_00810111 COSM4891297 c.1305G>A p.T435T Substitution - coding silent 12:27797953-27797953 + Pat_70_B COSM5840821 c.920G>A p.G307E Substitution - Missense 12:27791755-27791755 + 220 COSM4425127 c.902C>G p.S301* Substitution - Nonsense 12:27791737-27791737 + TCGA-AG-3726-01 COSM288222 c.1150C>A p.Q384K Substitution - Missense 12:27797798-27797798 + LUAD-S01315 COSM344143 c.1362G>A p.M454I Substitution - Missense 12:27798010-27798010 + TCGA-CM-6162-01 COSM1361116 c.519C>A p.P173P Substitution - coding silent 12:27780849-27780849 + TCGA-AA-A01Q-01 COSM300077 c.1220G>A p.R407H Substitution - Missense 12:27797868-27797868 + ESCC-158T COSM3935907 c.528A>T p.P176P Substitution - coding silent 12:27780858-27780858 + LUAD-D02185 COSM338473 c.981G>T p.V327V Substitution - coding silent 12:27791816-27791816 + PD4122a COSM162015 c.1134C>T p.D378D Substitution - coding silent 12:27797782-27797782 + Br02X COSM39672 c.522A>G p.Q174Q Substitution - coding silent 12:27780852-27780852 + TCGA-AP-A0L9-01 COSM938491 c.1341T>A p.H447Q Substitution - Missense 12:27797989-27797989 + TCGA-BR-4361-01 COSM4041220 c.909C>G p.L303L Substitution - coding silent 12:27791744-27791744 + TCGA-C5-A1BK-01 COSM4826226 c.882C>G p.F294L Substitution - Missense 12:27791717-27791717 + B66-Tumor COSM1746915 c.325G>A p.A109T Substitution - Missense 12:27780655-27780655 + HCC2998 COSM1676811 c.670G>A p.E224K Substitution - Missense 12:27781000-27781000 + B66 COSM1746915 c.325G>A p.A109T Substitution - Missense 12:27780655-27780655 + BD124T COSM5492929 c.778G>A p.G260R Substitution - Missense 12:27781108-27781108 + PD24204a COSM5768171 c.807C>G p.S269S Substitution - coding silent 12:27781137-27781137 + 53M COSM5594790 c.985C>T p.P329S Substitution - Missense 12:27791820-27791820 + T3024 COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 + T22 COSM5342050 c.1052G>T p.G351V Substitution - Missense 12:27791887-27791887 + OSCC-GB_00860111 COSM4885403 c.486C>A p.C162* Substitution - Nonsense 12:27780816-27780816 + TCGA-HC-7818-01 COSM3671045 c.779G>A p.G260E Substitution - Missense 12:27781109-27781109 + TCGA-EI-6514-01 COSM3416769 c.879C>T p.N293N Substitution - coding silent 12:27791714-27791714 + sysucc-325T COSM5461144 c.1037T>A p.I346N Substitution - Missense 12:27791872-27791872 + TCGA-DY-A1H8-01 COSM1562158 c.439G>T p.E147* Substitution - Nonsense 12:27780769-27780769 + TCGA-21-5786-01 COSM693470 c.1372G>T p.V458F Substitution - Missense 12:27798020-27798020 + T578 COSM4696400 c.1037T>G p.I346S Substitution - Missense 12:27791872-27791872 + Gp5D COSM2204357 c.824A>G p.N275S Substitution - Missense 12:27781154-27781154 + TCGA-25-1628-01 COSM77976 c.923G>A p.G308E Substitution - Missense 12:27791758-27791758 + TCGA-BP-4759-01 COSM3359687 c.1008G>A p.E336E Substitution - coding silent 12:27791843-27791843 + sysucc-311T COSM5478160 c.1345G>A p.D449N Substitution - Missense 12:27797993-27797993 + TCGA-CJ-4638-01 COSM468227 c.688T>C p.F230L Substitution - Missense 12:27781018-27781018 + TCGA-AG-3901-01 COSM5051532 c.1187_1188insG p.C399fs*43 Insertion - Frameshift 12:27797835-27797836 + B105-1-Tumor COSM384603 c.1145G>A p.R382H Substitution - Missense 12:27797793-27797793 + TCGA-E9-A2JS-01 COSM3811773 c.1060A>G p.T354A Substitution - Missense 12:27791895-27791895 + OSCC-GB_00430111 COSM3710630 c.1069C>G p.R357G Substitution - Missense 12:27797717-27797717 + Pat_70_B COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 + TCGA-EK-A3GK-01 COSM4853584 c.549G>C p.Q183H Substitution - Missense 12:27780879-27780879 + T3080 COSM4696399 c.830G>A p.S277N Substitution - Missense 12:27781160-27781160 + S02287 COSM5685589 c.1448G>T p.R483L Substitution - Missense 12:27798096-27798096 + LIM2405 COSM4641684 c.485G>A p.C162Y Substitution - Missense 12:27780815-27780815 + sysucc-1163T COSM5458360 c.1144C>T p.R382C Substitution - Missense 12:27797792-27797792 + TCGA-D1-A16F-01 COSM938490 c.1185C>T p.I395I Substitution - coding silent 12:27797833-27797833 + TCGA-D1-A0ZO-01 COSM938488 c.919G>A p.G307R Substitution - Missense 12:27791754-27791754 + CHC1040T COSM4425127 c.902C>G p.S301* Substitution - Nonsense 12:27791737-27791737 + TCGA-AK-3428-01 COSM3359688 c.1205A>T p.E402V Substitution - Missense 12:27797853-27797853 + Pat_70_A COSM5840821 c.920G>A p.G307E Substitution - Missense 12:27791755-27791755 + LUAD-RT-S01832 COSM384603 c.1145G>A p.R382H Substitution - Missense 12:27797793-27797793 + ESO-640 COSM1255946 c.385A>G p.N129D Substitution - Missense 12:27780715-27780715 + TCGA-AD-6889-01 COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 + SC_9008 COSM5549535 c.983C>T p.A328V Substitution - Missense 12:27791818-27791818 + pfg019T COSM1639106 c.1219C>T p.R407C Substitution - Missense 12:27797867-27797867 + HCC2998 COSM1676811 c.670G>A p.E224K Substitution - Missense 12:27781000-27781000 + T3724 COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 + TCGA-B0-5812-01 COSM468238 c.1349G>A p.G450D Substitution - Missense 12:27797997-27797997 + TCGA-A5-A0G9-01 COSM938492 c.1449G>A p.R483R Substitution - coding silent 12:27798097-27798097 + SJRHB006 COSM3737466 c.1048G>C p.G350R Substitution - Missense 12:27791883-27791883 + BD223T COSM5496590 c.429C>T p.P143P Substitution - coding silent 12:27780759-27780759 + T3503 COSM1361118 c.1188delG p.C399fs*44 Deletion - Frameshift 12:27797836-27797836 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.505104 12p11.22

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.N129D c.385A>G 12 27933648 ESCA A G Synonymous p.Q174Q c.522A>G 12 27933785 GBM A T Missense p.E402V c.1205A>T 12 27950786 RCCC C A Missense p.P164T c.490C>A 12 27933753 STAD C A Missense p.Q384K c.1150C>A 12 27950731 COREAD C G Missense p.R357G c.1069C>G 12 27950650 CM C T Missense p.H447Y c.1339C>T 12 27950920 CM C T Missense p.P194S c.580C>T 12 27933843 LUSC C T Missense p.P211S c.631C>T 12 27933894 CM C T Missense p.P329L c.986C>T 12 27944754 CM C T Missense p.R357W c.1069C>T 12 27950650 HNSC C T Missense p.R407C c.1219C>T 12 27950800 STAD C T Missense p.S461L c.1382C>T 12 27950963 CM C T Synonymous p.D378D c.1134C>T 12 27950715 BRCA C T Synonymous p.H401H c.1203C>T 12 27950784 LUSC C T Synonymous p.I395I c.1185C>T 12 27950766 UCEC C T Synonymous p.P238P c.714C>T 12 27933977 BLCA G A Missense p.G260E c.779G>A 12 27934042 PRAD G A Missense p.G307R c.919G>A 12 27944687 UCEC G A Missense p.G308E c.923G>A 12 27944691 OV G A Missense p.G450S c.1348G>A 12 27950929 STAD G A Missense p.V396M c.1186G>A 12 27950767 STAD G A Synonymous p.E336E c.1008G>A 12 27944776 RCCC G - Frameshift p.C399Vfs*44 c.1194delG 12 27950769 STAD G T Missense p.G170W c.508G>T 12 27933771 LUAD G T Missense p.V458F c.1372G>T 12 27950953 LUSC T A Missense p.H447Q c.1341T>A 12 27950922 UCEC T C Missense p.F230L c.688T>C 12 27933951 RCCC T C Missense p.V379A c.1136T>C 12 27950717 UCEC T C Synonymous p.H490H c.1470T>C 12 27951051 MM T G SpliceDonorSNV . c.872+2T>G 12 27934137 UCEC