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 FTHL17 53940 broad.mit.edu 37 X 31089693 31089693 + Silent SNP G G A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chrX:31089693G>A uc004dcl.1 - 0 478 c.378C>T c.(376-378)ggC>ggT p.G126G NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA. 126 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 GCTGGGGGTCGCCCTTCTCCA 0.607000 27 40 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72956810 72956810 + Nonsense_Mutation SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr12:72956810C>T uc001sxa.3 + 8 1927 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 633 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACTTAAACTTCAGAATAACAG 0.274000 33 58 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105242025 105242025 + Missense_Mutation SNP C C G TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr14:105242025C>G uc001ypk.3 - 4 953 c.399G>C c.(397-399)gaG>gaC p.E133D AKT1_uc001ypl.3_Missense_Mutation_p.E133D|AKT1_uc010axa.3_Missense_Mutation_p.E133D|AKT1_uc001ypm.3_Missense_Mutation_p.E133D|AKT1_uc001ypn.3_Missense_Mutation_p.E133D|AKT1_uc010tyk.2_Missense_Mutation_p.E71D NM_005163 NP_005154 P31749 AKT1_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA. 133 G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) ACACCTCCATCTCTTCAGCCC 0.647000 1 Mis """breast, colorectal, ovarian, NSCLC""" 22 24 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57282228 57282228 + Missense_Mutation SNP A A G TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr3:57282228A>G uc003dio.3 + 9 859 c.712A>G c.(712-714)Agg>Ggg p.R238G APPL1_uc010hnb.3_Missense_Mutation_p.R238G|APPL1_uc011bey.1_Missense_Mutation_p.R221G NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA. 238 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding p.R237C(2) breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) CAGTGTTCGCAGGGAAATGGA 0.408000 6 67 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24226355 24226355 + Missense_Mutation SNP G G A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chrX:24226355G>A uc011mjv.2 + 7 1327 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K ZFX_uc004dbd.2_Missense_Mutation_p.E321K|ZFX_uc004dbf.3_Missense_Mutation_p.E321K|ZFX_uc004dbe.3_Missense_Mutation_p.E321K|ZFX_uc022bua.1_Missense_Mutation_p.E321K|ZFX_uc010nfx.2_Missense_Mutation_p.E92K|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_Missense_Mutation_p.E24K NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 AATCGCTGACGAAGTTTATAT 0.438000 27 30 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 929821 929821 + Missense_Mutation SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr19:929821C>T uc002lql.3 + 1 583 c.293C>T c.(292-294)aCa>aTa p.T98I NM_005224 NP_005215 Q99856 ARI3A_HUMAN Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA. 98 Glu-rich. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) CGGGAGGGGACACCGGGCTCA 0.721000 2 0 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759422 55759422 + Silent SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr12:55759422C>T uc010spk.2 + 0 528 c.528C>T c.(526-528)atC>atT p.I176I NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ATCATTTTATCTGTGACTCTT 0.428000 22 35 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40033972 40033972 + Missense_Mutation SNP T T C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr20:40033972T>C uc002xka.1 - 36 7587 c.7409A>G c.(7408-7410)aAt>aGt p.N2470S CHD6_uc002xjz.1_Missense_Mutation_p.N7S NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 2470 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AATCAGTCCATTCATGAACAG 0.607000 29 28 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73220067 73220067 + Missense_Mutation SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr14:73220067C>T uc001xnc.2 - 2 219 c.206G>A c.(205-207)gGc>gAc p.G69D DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.G69D|DPF3_uc010ttq.1_Missense_Mutation_p.G79D NM_012074 NP_036206 Q92784 DPF3_HUMAN Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA. 69 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ATACAGCTGGCCCGGGGCAAG 0.542000 3 21 0 0 1 0 0 HSH2D 84941 broad.mit.edu 37 19 16268601 16268601 + Missense_Mutation SNP G G A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr19:16268601G>A uc002ndp.4 + 8 1586 c.1055G>A c.(1054-1056)tGc>tAc p.C352Y HSH2D_uc002ndr.3_3'UTR|HSH2D_uc010ead.3_Non-coding_Transcript NM_032855 NP_116244 Q96JZ2 HSH2D_HUMAN Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA. 352 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 CCTGGGTACTGCTAGAGAACA 0.612000 7 4 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228506696 228506696 + Missense_Mutation SNP G G T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr1:228506696G>T uc009xez.1 + 53 14287 c.14243G>T c.(14242-14244)cGc>cTc p.R4748L OBSCN_uc001hsn.3_Missense_Mutation_p.R4748L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4748 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGAAACGTCGCATGAGCCGT 0.682000 5 1 0 0 1 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20302255 20302255 + Missense_Mutation SNP T T C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr1:20302255T>C uc001bcu.3 - 4 592 c.374A>G c.(373-375)tAc>tGc p.Y125C PLA2G2A_uc001bcv.3_Missense_Mutation_p.Y125C|PLA2G2A_uc010oda.2_Missense_Mutation_p.Y125C|PLA2G2A_uc010odb.2_Missense_Mutation_p.Y125C NM_001161729 NP_001155201 P14555 PA2GA_HUMAN Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA. 125 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding p.Y125N(1) central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTTTTTATTGTAGGTCGTCTT 0.458000 41 42 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83948837 83948837 + Missense_Mutation SNP G G C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr16:83948837G>C uc002fgz.3 + 4 1245 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q NM_012213 NP_036345 O95822 DCMC_HUMAN Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA. 409 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CCTGTATGGAGAGAAGCACCG 0.647000 45 44 0 0 1 0 0 RAD23B 5887 broad.mit.edu 37 9 110074019 110074019 + Splice_Site SNP G G T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr9:110074019G>T uc004bde.3 + 5 947 c.553_splice c.e5+1 p.V185_splice RAD23B_uc011lwa.2_Splice_Site_p.V185_splice|RAD23B_uc022blj.1_Splice_Site_p.V113_splice|RAD23B_uc011lwb.2_Splice_Site_p.V164_splice NM_002874 NP_002865 P54727 RD23B_HUMAN Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA. 185 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process XPC complex|cytoplasm|nucleoplasm|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AGTGCACTTGGTAAGTATCTG 0.308000 Direct reversal of damage;Nucleotide excision repair (NER) 15 19 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73491207 73491207 + Nonsense_Mutation SNP G G A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr14:73491207G>A uc001xnm.3 - 1 731 c.10C>T c.(10-12)Cag>Tag p.Q4* ZFYVE1_uc010arj.3_Nonsense_Mutation_p.Q4* NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA. 4 Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GGGGAAGTCTGGGCACTCATA 0.527000 5 33 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73834059 73834059 + Missense_Mutation SNP G G C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr11:73834059G>C uc001ouu.2 - 7 1566 c.1339C>G c.(1339-1341)Ctg>Gtg p.L447V C2CD3_uc001ouv.2_Missense_Mutation_p.L447V NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 447 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AAATTCTCCAGAAGACTCTGG 0.428000 25 30 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75182420 75182420 + Silent SNP C C T rs149477499 TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr15:75182420C>T uc002azc.1 + 0 11 c.6C>T c.(4-6)gcC>gcT p.A2A MPI_uc010ulv.2_Silent_p.A2A|MPI_uc010ulw.2_5'UTR|MPI_uc002azd.1_Silent_p.A2A|MPI_uc010ulx.1_5'UTR|MPI_uc002aze.1_Silent_p.A2A NM_002435 NP_002426 P34949 MPI_HUMAN Homo sapiens mannose phosphate isomerase (MPI), mRNA. 2 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CGAGCATGGCCGCTCCGCGAG 0.662000 15 23 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212251745 212251745 + Missense_Mutation SNP G G C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr2:212251745G>C uc002veg.1 - 26 3412 c.3314C>G c.(3313-3315)tCc>tGc p.S1105C ERBB4_uc002veh.1_Missense_Mutation_p.S1089C|ERBB4_uc010zji.1_Missense_Mutation_p.S1095C|ERBB4_uc010zjj.1_Missense_Mutation_p.S1079C NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 1105 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.D1104Y(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATTACAGCAGGAGTCATCAAA 0.557000 TSP Lung(8;0.080) 37 54 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122808075 122808075 + Missense_Mutation SNP G G A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr3:122808075G>A uc003egc.2 + 1 259 c.103G>A c.(103-105)Gac>Aac p.D35N PDIA5_uc003egd.2_Non-coding_Transcript NM_006810 NP_006801 Q14554 PDIA5_HUMAN Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA. 35 cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) GAGAATCTCTGACCCCAAGGA 0.512000 36 54 0 0 1 0 0 RAB27A 5873 broad.mit.edu 37 15 55497815 55497815 + Nonsense_Mutation SNP C C A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr15:55497815C>A uc002acr.3 - 6 798 c.556G>T c.(556-558)Gaa>Taa p.E186* RAB27A_uc002aco.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acp.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acq.3_Nonsense_Mutation_p.E186* NM_183235 NP_899059 P51159 RB27A_HUMAN Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 3, mRNA. 186 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) ACACACCGTTCCATTCGCTTC 0.468000 62 83 0 0 1 0 0 MBLAC1 255374 broad.mit.edu 37 7 99725100 99725100 + Missense_Mutation SNP T T C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr7:99725100T>C uc003utp.3 + 1 478 c.82T>C c.(82-84)Tac>Cac p.Y28H MBLAC1_uc022aig.1_Missense_Mutation_p.Y28H NM_203397 NP_981942 A4D2B0 MBLC1_HUMAN Homo sapiens metallo-beta-lactamase domain containing 1 (MBLAC1), mRNA. 28 hydrolase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 7 GCTGCAGGGCTACGCGGAGCC 0.726000 3 9 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 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 30 31 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51207039 51207039 + Frame_Shift_Del DEL G G - TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 cf64593a-6d9e-4cf0-9838-f04c19e0d851 g.chr19:51207039delG uc002psx.1 - 9 1290 c.1271delC c.(1270-1272)ccafs p.P424fs NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 424 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.P424fs*5(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCCTGTGCCTGGGGGCCCCCG 0.721 2 4 --- --- --- ---