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 RELN 5649 broad.mit.edu 37 7 103202062 103202062 + Missense_Mutation SNP G G T TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr7:103202062G>T uc022ajr.1 - 35 5606 c.5446C>A c.(5446-5448)Ctt>Att p.L1816I RELN_uc022ajq.1_Missense_Mutation_p.L1816I|RELN_uc010liz.3_Missense_Mutation_p.L1816I NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1816 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCAGGCCAAAGGTCAGGATGT 0.443000 12 32 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151806720 151806720 + Missense_Mutation SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chrX:151806720G>A uc004ffp.1 + 0 84 c.64G>A c.(64-66)Gag>Aag p.E22K NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 22 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity p.A21V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CTGGCTCGCGGAGGGCAACTA 0.647000 7 85 0 0 1 0 0 ACOT7 11332 broad.mit.edu 37 1 6341211 6341211 + Missense_Mutation SNP T T A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr1:6341211T>A uc001ams.3 - 7 1152 c.995A>T c.(994-996)tAc>tTc p.Y332F ACOT7_uc001amt.3_Missense_Mutation_p.Y322F|ACOT7_uc001amu.3_Non-coding_Transcript|ACOT7_uc001amq.3_Missense_Mutation_p.Y281F|ACOT7_uc001amr.3_Missense_Mutation_p.Y302F NM_181864 NP_863654 O00154 BACH_HUMAN Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA. 332 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 16 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) CAGCGACACGTAGGTGAAGAA 0.642000 OREG0013034 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 34 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118951865 118951865 + Silent SNP C C G TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr11:118951865C>G uc010ryx.2 + 15 2538 c.2496C>G c.(2494-2496)gtC>gtG p.V832V VPS11_uc010ryy.2_Silent_p.V680V NM_021729 NP_068375 Q9H270 VPS11_HUMAN Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA. 834 protein transport HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TGCCCTCAGTCCACTTCCTGT 0.507000 12 174 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151671522 151671522 + Missense_Mutation SNP C C A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr6:151671522C>A uc011eep.2 + 3 2236 c.1996C>A c.(1996-1998)Ccg>Acg p.P666T AKAP12_uc003qoe.3_Missense_Mutation_p.P666T|AKAP12_uc003qof.3_Missense_Mutation_p.P568T|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.P561T NM_005100 NP_005091 Q02952 AKA12_HUMAN Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA. 666 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGAGCCAAAGCCGGAAGAACC 0.493000 17 40 0 0 1 0 0 FBXL5 26234 broad.mit.edu 37 4 15629584 15629584 + Missense_Mutation SNP T T C TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr4:15629584T>C uc003goc.2 - 6 1090 c.965A>G c.(964-966)cAt>cGt p.H322R FBXL5_uc010idw.2_Missense_Mutation_p.H235R|FBXL5_uc003gob.2_Missense_Mutation_p.H184R|FBXL5_uc010idx.2_Missense_Mutation_p.H321R|FBXL5_uc003god.2_Missense_Mutation_p.H305R|FBXL5_uc010idy.2_Missense_Mutation_p.H322R NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA. 322 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis SCF ubiquitin ligase complex|perinuclear region of cytoplasm iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 TAGAACGTTATGAATTAAGCC 0.348000 9 10 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123279544 123279544 + Missense_Mutation SNP C C G TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr10:123279544C>G uc021pzy.1 - 6 1535 c.888G>C c.(886-888)aaG>aaC p.K296N FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.K181N|FGFR2_uc021pzx.1_Missense_Mutation_p.K207N|FGFR2_uc021pzz.1_Missense_Mutation_p.K296N|FGFR2_uc010qtl.2_Missense_Mutation_p.K296N|FGFR2_uc010qtm.2_Missense_Mutation_p.K181N|FGFR2_uc021qaa.1_Missense_Mutation_p.K296N|FGFR2_uc021qab.1_Missense_Mutation_p.K207N|FGFR2_uc021qac.1_Missense_Mutation_p.K226N|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.K315N|FGFR2_uc010qto.2_Missense_Mutation_p.K200N|FGFR2_uc001lfo.1_Missense_Mutation_p.K315N|FGFR2_uc010qtp.2_Missense_Mutation_p.K315N|FGFR2_uc001lfg.4_5'Flank NM_022970 NP_075259 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA. 296 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TACTGCCGTTCTTTTCCACGT 0.537000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 8 72 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210559316 210559316 + Nonsense_Mutation SNP G G T TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr2:210559316G>T uc002vde.1 + 6 2670 c.2422G>T c.(2422-2424)Gaa>Taa p.E808* MAP2_uc002vdc.1_Nonsense_Mutation_p.E808*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.E804* NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 808 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGACCTTCCTGAAATGCTAGA 0.463000 11 100 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113234582 113234582 + Missense_Mutation SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr9:113234582G>A uc010mtz.3 - 14 2958 c.2621C>T c.(2620-2622)gCt>gTt p.A874V SVEP1_uc010mua.1_Missense_Mutation_p.A874V NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 874 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGCCTATTAGCTGCACCCCA 0.493000 7 59 0 0 1 0 0 SOWAHD 347454 broad.mit.edu 37 X 118893168 118893168 + Missense_Mutation SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chrX:118893168G>A uc010nql.3 + 0 593 c.538G>A c.(538-540)Gtg>Atg p.V180M NM_001105576 NP_001099046 A6NJG2 ANR58_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA. 180 GAGGCTCGACGTGAGCGCCCC 0.692000 6 4 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446145 29446145 + Missense_Mutation SNP C C G TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr22:29446145C>G uc003aeg.3 + 7 1976 c.1976C>G c.(1975-1977)tCc>tGc p.S659C ZNRF3_uc021wnq.1_Missense_Mutation_p.S559C NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 659 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GATCAGGTGTCCACCTGCAGC 0.682000 9 91 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23167321 23167321 + Silent SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr8:23167321G>A uc003xdh.1 - 9 2079 c.1740C>T c.(1738-1740)ctC>ctT p.L580L LOXL2_uc010lty.1_Silent_p.L119L NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA. 580 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CTGAGGCCGAGAGGCAGTTCT 0.652000 4 41 0 0 1 0 0 PPAPDC2 403313 broad.mit.edu 37 9 4662753 4662753 + Silent SNP G G C TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr9:4662753G>C uc003zin.3 + 0 456 c.378G>C c.(376-378)tcG>tcC p.S126S SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron NM_203453 NP_982278 Q8IY26 PPAC2_HUMAN Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA. 126 integral to membrane hydrolase activity endometrium(1)|large_intestine(2)|lung(1) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) AGAGCTCGTCGTGGGGCAGCG 0.657000 OREG0019084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 0 0 1 0 0 ZFR2 23217 broad.mit.edu 37 19 3821446 3821446 + Missense_Mutation SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr19:3821446G>A uc002lyw.2 - 9 1535 c.1523C>T c.(1522-1524)aCg>aTg p.T508M ZFR2_uc010xhx.1_Non-coding_Transcript NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA. 508 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCTGGGCTCCGTGGCAATGGG 0.642000 18 25 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1915828 1915828 + Missense_Mutation SNP C C T TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr2:1915828C>T uc002qxe.3 - 11 2500 c.1673G>A c.(1672-1674)cGc>cAc p.R558H MYT1L_uc002qxd.3_Missense_Mutation_p.R556H|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 558 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GACATGCCCGCGCCCCGTGCA 0.597000 10 9 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53575049 53575049 + Silent SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chrX:53575049G>A uc004dsp.3 - 67 10623 c.10221C>T c.(10219-10221)tcC>tcT p.S3407S HUWE1_uc004dsn.3_Silent_p.S2215S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 3407 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.A3406S(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTGACTTCACGGAGTTCTTGC 0.547000 16 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 12 20 0 0 1 0 0 SIKE1 80143 broad.mit.edu 37 1 115321764 115321764 + Splice_Site SNP G G A TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr1:115321764G>A uc001efp.4 - 3 500 c.420_splice c.e3+1 p.A140_splice SIKE1_uc001efo.4_Splice_Site_p.A136_splice NM_001102396 NP_001095866 Q9BRV8 SIKE1_HUMAN Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 1, mRNA. 136 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 GTTTCTTACTGCAGAGTGAGA 0.378000 18 32 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5965510 5965510 + Missense_Mutation SNP C C G TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr20:5965510C>G uc002wmk.3 + 14 2314 c.1937C>G c.(1936-1938)tCt>tGt p.S646C MCM8_uc002wmi.3_Missense_Mutation_p.S606C|MCM8_uc002wmj.3_Missense_Mutation_p.S590C|MCM8_uc002wml.3_Missense_Mutation_p.S606C|MCM8_uc010gbp.3_Missense_Mutation_p.S559C|MCM8_uc002wmm.3_Missense_Mutation_p.S144C NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA. 606 DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity p.P646L(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CACTTACTCTCTGAACATGTG 0.393000 4 29 0 0 1 0 0 DNAJC7 7266 broad.mit.edu 37 17 40135606 40135606 + Frame_Shift_Del DEL T T - TCGA-MK-A4N7-01A-11D-A257-08 TCGA-MK-A4N7-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1565fa2-c035-429d-859e-9b4746a7322e 0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27 g.chr17:40135606delT uc002hyo.3 - 9 1340 c.1059delA c.(1057-1059)aaafs p.K353fs DNAJC7_uc010wgb.2_Frame_Shift_Del_p.K297fs|DNAJC7_uc002hyp.3_Frame_Shift_Del_p.K297fs|DNAJC7_uc010wgc.2_Frame_Shift_Del_p.K211fs NM_003315 NP_001138238 Q99615 DNJC7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA. 353 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) TCTGGTATACTTTTTCATAGT 0.368 2 4 --- --- --- ---