Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut MESP1 55897 broad.mit.edu 37 15 90293428 90293428 + Missense_Mutation SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr15:90293428C>T ENST00000300057.4 - 2 832 c.754G>A c.(754-756)Gag>Aag p.E252K MESP1_ENST00000559894.1_5'UTR NM_018670.3 NP_061140.1 Q9BRJ9 MESP1_HUMAN mesoderm posterior 1 homolog (mouse) 252 cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|kidney(1) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ATCCAGGTCTCCAACAGAGCC 0.647000 6 113 0 0 0.021553 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530349 5530349 + Missense_Mutation SNP T T C TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr11:5530349T>C ENST00000311659.4 - 2 587 c.440A>G c.(439-441)tAt>tGt p.Y147C HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 147 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGCCACGATAGGCCAAGCC 0.587000 3 63 0 0 0.004672 0 0 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr6:135784313T>C ENST00000367800.4 - 6 1097 c.881A>G c.(880-882)cAa>cGa p.Q294R AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 294 adherens junction|cilium|microtubule basal body p.Q294R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313000 3 74 0 0 0.021553 0 0 PGAP2 27315 broad.mit.edu 37 11 3845632 3845632 + Missense_Mutation SNP C C G TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr11:3845632C>G ENST00000493547.2 + 5 629 c.551C>G c.(550-552)tCc>tGc p.S184C PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000278243.4_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000496834.2_Intron NM_001256238.1 NP_001243167.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 0 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 AGCGGGGGCTCCAAGGCAGCC 0.562000 OREG0020703 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 66 0 0 0.038147 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 82 0 0 0.029380 0 0 TMCC1 23023 broad.mit.edu 37 3 129389296 129389296 + Missense_Mutation SNP A A T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr3:129389296A>T ENST00000393238.3 - 4 1728 c.1388T>A c.(1387-1389)cTa>cAa p.L463Q TMCC1_ENST00000432054.2_Missense_Mutation_p.L139Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.L284Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.L349Q NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 463 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GATCTCATGTAGTAGTGCATC 0.502000 9 122 0 0 0.047766 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 6 37 0 0 0.021553 0 0 WDR17 116966 broad.mit.edu 37 4 177095771 177095771 + Silent SNP T T C TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr4:177095771T>C ENST00000393643.2 + 27 3648 c.3396T>C c.(3394-3396)gcT>gcC p.A1132A WDR17_ENST00000280190.4_Silent_p.A1156A|WDR17_ENST00000507824.2_Silent_p.A1131A|WDR17_ENST00000508596.1_Silent_p.A1117A NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1156 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTTTTAGAGCTCGAAATGAGT 0.333000 10 41 0 0 0.069234 0 0 PRSS55 203074 broad.mit.edu 37 8 10387076 10387076 + Missense_Mutation SNP A A G TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr8:10387076A>G ENST00000328655.3 + 2 254 c.214A>G c.(214-216)Atg>Gtg p.M72V PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 72 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CACAGGGGGGATGGAGGCGGA 0.507000 4 306 0 0 0.014758 0 0 GPR98 84059 broad.mit.edu 37 5 89979771 89979771 + Silent SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr5:89979771C>T ENST00000405460.2 + 28 6129 c.6033C>T c.(6031-6033)gtC>gtT p.V2011V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2011 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGGAAAAGTCCTTGTCTCAT 0.378000 3 30 0 0 0.004672 0 0 FAT1 2195 broad.mit.edu 37 4 187628248 187628248 + Missense_Mutation SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr4:187628248C>T ENST00000441802.2 - 2 2943 c.2734G>A c.(2734-2736)Gtt>Att p.V912I NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 912 Cadherin 7. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTTTCACAACGACAGTGGAG 0.488000 HNSCC(5;0.00058) 16 222 0 0 0.024245 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 40 0 0 0.021553 0 0 MESP1 55897 broad.mit.edu 37 15 90293429 90293429 + Silent SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr15:90293429C>T ENST00000300057.4 - 2 831 c.753G>A c.(751-753)ttG>ttA p.L251L MESP1_ENST00000559894.1_5'UTR NM_018670.3 NP_061140.1 Q9BRJ9 MESP1_HUMAN mesoderm posterior 1 homolog (mouse) 251 cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|kidney(1) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TCCAGGTCTCCAACAGAGCCA 0.647000 7 108 0 0 0.029380 0 0 CCDC30 728621 broad.mit.edu 37 1 43047065 43047065 + Missense_Mutation SNP A A G TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr1:43047065A>G ENST00000428554.2 + 15 2243 c.1100A>G c.(1099-1101)cAt>cGt p.H367R CCDC30_ENST00000507855.1_Missense_Mutation_p.H156R|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156R|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367R|CCDC30_ENST00000340612.4_Missense_Mutation_p.H367R Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 367 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 GAACATGCTCATAAAGTCTGT 0.348000 6 88 0 0 0.021553 0 0 ADH7 131 broad.mit.edu 37 4 100341811 100341811 + Missense_Mutation SNP A A T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr4:100341811A>T ENST00000437033.2 - 6 1207 c.704T>A c.(703-705)gTa>gAa p.V235E ADH7_ENST00000482593.1_Missense_Mutation_p.V178E|ADH7_ENST00000476959.1_Missense_Mutation_p.V255E|ADH7_ENST00000209665.4_Missense_Mutation_p.V247E P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 247 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) AGTGGCACCTACAGCCATGGC 0.488000 19 27 0 0 0.055883 0 0 ITGA8 8516 broad.mit.edu 37 10 15646258 15646258 + Silent SNP A A G TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr10:15646258A>G ENST00000378076.3 - 20 2420 c.2067T>C c.(2065-2067)ttT>ttC p.F689F ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 689 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTATCATTACAAAGAGTTCAG 0.368000 27 31 0 0 0.108266 0 0 TCF3 6929 broad.mit.edu 37 19 1612376 1612376 + Missense_Mutation SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr19:1612376C>T ENST00000344749.5 - 18 1709 c.1643G>A c.(1642-1644)cGc>cAc p.R548H TCF3_ENST00000588136.1_Missense_Mutation_p.R548H|TCF3_ENST00000453954.2_Missense_Mutation_p.R463H|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000262965.5_Intron NM_001136139.2 NP_001129611.1 P15923 TFE2_HUMAN transcription factor 3 551 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding p.R548H(1) breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATTGGCCATGCGCCTCTCCCG 0.632000 T """PBX1, HLF, TFPT""" pre B-ALL 5 92 0 0 0.014758 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561416 145561416 + Silent SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr1:145561416C>T ENST00000355594.4 + 10 1191 c.1104C>T c.(1102-1104)ggC>ggT p.G368G NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 368 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGGGGATGGCATGGAGCAGG 0.567000 17 19 0 0 0.033300 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84530744 84530744 + RNA SNP T T C TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr9:84530744T>C ENST00000527857.1 + 0 766 NR_026851.1 CCCTCTCCCCTTTTCCCACCG 0.542000 4 168 0 0 0.009096 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 18 32 0 0 0.033300 0 0 TNRC6B 23112 broad.mit.edu 37 22 40708536 40708536 + Missense_Mutation SNP G G A TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr22:40708536G>A ENST00000454349.2 + 18 4674 c.4463G>A c.(4462-4464)gGt>gAt p.G1488D TNRC6B_ENST00000335727.8_Missense_Mutation_p.G1378D|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G684D|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G684D NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1488 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCATGGAAAGGTATCCAAAAC 0.423000 26 56 0 0 0.091800 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 45 0 0 0.014758 0 0 RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 2 4 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-ET-A25R-01A-11D-A17V-08 TCGA-ET-A25R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba105f67-2809-45d2-ac53-fd960b8b96af 8cf170a9-ea18-44a0-8a75-086603edd88e g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 7 243 --- --- --- ---