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 ENST00000359202.3 - 1 477 c.378C>T c.(376-378)ggC>ggT p.G126G NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 126 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 ENST00000261180.4 + 9 1993 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 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 ENST00000554581.1 - 4 1879 c.399G>C c.(397-399)gaG>gaC p.E133D AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 133 activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|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 fluid shear stress|response to heat|response to UV-A|T cell costimulation 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 ENST00000288266.3 + 10 859 c.712A>G c.(712-714)Agg>Ggg p.R238G NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 238 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 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 C10orf68 79741 broad.mit.edu 37 10 33165316 33165316 + 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.chr10:33165316T>C ENST00000375030.2 + 23 2377 c.1759T>C c.(1759-1761)Ttt>Ctt p.F587L C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L|C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 628 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ACACCCATACTTTTGAGAATG 0.318000 3 40 0 0 1 0 0 HCP5 0 broad.mit.edu 37 6 31431643 31431643 + RNA 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.chr6:31431643C>T ENST00000414046.2 + 0 715 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 gggttccacacgaactcctcc 0.572000 7 103 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 ENST00000379177.1 + 9 1388 c.961G>A c.(961-963)Gaa>Aaa p.E321K ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 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 ENST00000263620.3 + 2 620 c.293C>T c.(292-294)aCa>aTa p.T98I NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 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 ENST00000343399.3 + 1 528 c.528C>T c.(526-528)atC>atT p.I176I NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 176 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 0 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 ENST00000373233.3 - 37 7586 c.7409A>G c.(7408-7410)aAt>aGt p.N2470S CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2470 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA 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 CCDC114 93233 broad.mit.edu 37 19 48807367 48807367 + Silent SNP C C A rs28582401 by1000genomes 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.chr19:48807367C>A ENST00000315396.7 - 7 1267 c.585G>T c.(583-585)ctG>ctT p.L195L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 195 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CGCGCTCCCGCAGCAAGCCCA 0.682000 5 57 3.59834e-05 3.87513e-05 1 1 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 ENST00000541685.1 - 3 218 c.206G>A c.(205-207)gGc>gAc p.G69D DPF3_ENST00000556509.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 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 HCFC1 3054 broad.mit.edu 37 X 153229727 153229727 + 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.chrX:153229727C>T ENST00000310441.7 - 3 1317 c.351G>A c.(349-351)cgG>cgA p.R117R HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 117 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCACTCCCACCGGCTCGCCT 0.597000 6 117 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 ENST00000253680.6 + 9 1586 c.1055G>A c.(1054-1056)tGc>tAc p.C352Y HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000593154.2_3'UTR Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 352 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 CCTGGGTACTGCTAGAGAACA 0.612000 7 4 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 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 30 31 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 ENST00000375111.3 - 6 645 c.374A>G c.(373-375)tAc>tGc p.Y125C PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C|PLA2G2A_ENST00000496748.1_5'UTR NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 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 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 ENST00000262430.4 + 5 1244 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q RP11-505K9.4_ENST00000561562.1_RNA NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 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 ENST00000358015.3 + 5 904 c.e5+1 RAD23B_ENST00000416373.2_Splice_Site NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 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 cytoplasm|nucleoplasm|proteasome complex|XPC 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 3.32936e-07 3.77927e-07 1 1 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 ENST00000556143.1 - 2 730 c.10C>T c.(10-12)Cag>Tag p.Q4* ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4* NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 4 endoplasmic reticulum|Golgi stack|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 ENST00000334126.7 - 8 1565 c.1339C>G c.(1339-1341)Ctg>Gtg p.L447V C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 447 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 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 ENST00000316218.7 + 2 198 c.103G>A c.(103-105)Gac>Aac p.D35N NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 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 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 ENST00000352410.4 + 1 73 c.6C>T c.(4-6)gcC>gcT p.A2A MPI_ENST00000323744.6_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000564003.1_5'UTR P34949 MPI_HUMAN mannose phosphate isomerase 2 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose 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 ENST00000342788.4 - 27 3624 c.3314C>G c.(3313-3315)tCc>tGc p.S1105C ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 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 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 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_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.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 4 30 1 1 1 1 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 ENST00000396307.2 - 6 807 c.556G>T c.(556-558)Gaa>Taa p.E186* RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186* NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 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 3.37043e-27 3.93217e-27 1 1 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 ENST00000398075.2 + 2 481 c.82T>C c.(82-84)Tac>Cac p.Y28H NM_203397.1 NP_981942.1 A4D2B0 MBLC1_HUMAN metallo-beta-lactamase domain containing 1 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 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 ENST00000570156.2 + 65 17188 c.17114G>T c.(17113-17115)cGc>cTc p.R5705L OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4748L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4748 DH. 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 cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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 1.23904e-05 1.36947e-05 1 1 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes 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.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 79 0 0 1 0 0 FTHL17 53940 broad.mit.edu 37 X 31089693 31089693 + Silent SNP G G A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chrX:31089693G>A ENST00000359202.3 - 1 477 c.378C>T c.(376-378)ggC>ggT p.G126G NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 126 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr12:72956810C>T ENST00000261180.4 + 9 1993 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr14:105242025C>G ENST00000554581.1 - 4 1879 c.399G>C c.(397-399)gaG>gaC p.E133D AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 133 activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|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 fluid shear stress|response to heat|response to UV-A|T cell costimulation 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr3:57282228A>G ENST00000288266.3 + 10 859 c.712A>G c.(712-714)Agg>Ggg p.R238G NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 238 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 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 C10orf68 79741 broad.mit.edu 37 10 33165316 33165316 + Missense_Mutation SNP T T C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr10:33165316T>C ENST00000375030.2 + 23 2377 c.1759T>C c.(1759-1761)Ttt>Ctt p.F587L C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L|C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 628 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ACACCCATACTTTTGAGAATG 0.318000 3 40 0 0 1 0 0 HCP5 0 broad.mit.edu 37 6 31431643 31431643 + RNA SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr6:31431643C>T ENST00000414046.2 + 0 715 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 gggttccacacgaactcctcc 0.572000 7 103 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chrX:24226355G>A ENST00000379177.1 + 9 1388 c.961G>A c.(961-963)Gaa>Aaa p.E321K ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 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 OR6C75 390323 broad.mit.edu 37 12 55759422 55759422 + Silent SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr12:55759422C>T ENST00000343399.3 + 1 528 c.528C>T c.(526-528)atC>atT p.I176I NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 176 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 0 broad.mit.edu 37 20 40033972 40033972 + Missense_Mutation SNP T T C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr20:40033972T>C ENST00000373233.3 - 37 7586 c.7409A>G c.(7408-7410)aAt>aGt p.N2470S CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2470 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA 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 CCDC114 93233 broad.mit.edu 37 19 48807367 48807367 + Silent SNP C C A rs28582401 by1000genomes TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr19:48807367C>A ENST00000315396.7 - 7 1267 c.585G>T c.(583-585)ctG>ctT p.L195L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 195 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CGCGCTCCCGCAGCAAGCCCA 0.682000 5 57 3.59834e-05 3.91819e-05 1 1 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr14:73220067C>T ENST00000541685.1 - 3 218 c.206G>A c.(205-207)gGc>gAc p.G69D DPF3_ENST00000556509.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 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 HCFC1 3054 broad.mit.edu 37 X 153229727 153229727 + Silent SNP C C T TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chrX:153229727C>T ENST00000310441.7 - 3 1317 c.351G>A c.(349-351)cgG>cgA p.R117R HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 117 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCACTCCCACCGGCTCGCCT 0.597000 6 117 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr19:16268601G>A ENST00000253680.6 + 9 1586 c.1055G>A c.(1054-1056)tGc>tAc p.C352Y HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000593154.2_3'UTR Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr1:228506696G>T ENST00000570156.2 + 65 17188 c.17114G>T c.(17113-17115)cGc>cTc p.R5705L OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4748L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4748 DH. 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 cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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 1.23904e-05 1.37984e-05 1 1 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr1:20302255T>C ENST00000375111.3 - 6 645 c.374A>G c.(373-375)tAc>tGc p.Y125C PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 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 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 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 4 61 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr16:83948837G>C ENST00000262430.4 + 5 1244 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q RP11-505K9.4_ENST00000561562.1_RNA NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr9:110074019G>T ENST00000358015.3 + 5 904 c.e5+1 RAD23B_ENST00000416373.2_Splice_Site NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 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 cytoplasm|nucleoplasm|proteasome complex|XPC 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 3.32936e-07 3.79392e-07 1 1 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr14:73491207G>A ENST00000556143.1 - 2 730 c.10C>T c.(10-12)Cag>Tag p.Q4* ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4* NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 4 endoplasmic reticulum|Golgi stack|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 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 4 67 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr3:122808075G>A ENST00000316218.7 + 2 198 c.103G>A c.(103-105)Gac>Aac p.D35N NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 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 MPI 4351 broad.mit.edu 37 15 75182420 75182420 + Silent SNP C C T rs149477499 TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr15:75182420C>T ENST00000352410.4 + 1 73 c.6C>T c.(4-6)gcC>gcT p.A2A MPI_ENST00000563786.1_5'UTR|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000323744.6_Silent_p.A2A|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000535694.1_5'UTR P34949 MPI_HUMAN mannose phosphate isomerase 2 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr2:212251745G>C ENST00000342788.4 - 27 3624 c.3314C>G c.(3313-3315)tCc>tGc p.S1105C ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C|ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 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 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 C2CD3 26005 broad.mit.edu 37 11 73834059 73834059 + Missense_Mutation SNP G G C TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr11:73834059G>C ENST00000334126.7 - 8 1565 c.1339C>G c.(1339-1341)Ctg>Gtg p.L447V C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 447 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 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 36 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 4 30 1 1 1 1 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr15:55497815C>A ENST00000396307.2 - 6 807 c.556G>T c.(556-558)Gaa>Taa p.E186* RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186* NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 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 3.37043e-27 3.93217e-27 1 1 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr7:99725100T>C ENST00000398075.2 + 2 481 c.82T>C c.(82-84)Tac>Cac p.Y28H NM_203397.1 NP_981942.1 A4D2B0 MBLC1_HUMAN metallo-beta-lactamase domain containing 1 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-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 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 30 31 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 3 37 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 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.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T 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.chr4:85556475delT ENST00000295887.5 + 8 1204 c.781delT c.(781-783)ttfs p.F263fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 263 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) CCTTTTTGGATTTTTTTTTGG 0.308 9 58 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A 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.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 4 4 --- --- --- --- RP11-1060J15.4 0 broad.mit.edu 37 12 27855780 27855781 + RNA INS - - 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.chr12:27855780_27855781insA ENST00000536317.1 - 0 519 RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA TGCCAAGGCTGAaaaaaaaaga 0.396 2 4 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183626 + RNA DEL TT TT - rs11296516 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.chr16:81183625_81183626delTT ENST00000533478.1 - 0 2609 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttt 0.465 2 4 --- --- --- --- 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 ENST00000293441.1 - 10 1289 c.1271delC c.(1270-1272)cafs p.P424fs SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 424 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding 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 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - - 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.chr20:29628229_29628230insA ENST00000278882.3 + 6 611_612 c.231_232insA c.(229-234)ggaaatfs p.N78fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCACTTAGGGGAAAATGGCTTT 0.351 7 146 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 4 4 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651200 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr11:1651199_1651200insGGCTGTGGCTCC ENST00000399676.2 + 1 167_168 c.129_130insGGCTGTGGCTCC c.(127-132)gggctg>ggGGCTGTGGCTCCgctg p.43_44GL>GAVAPL NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtggggg 0.713 43 18 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51207039 51207039 + Frame_Shift_Del DEL G G - TCGA-BJ-A4O9-01A-11D-A257-08 TCGA-BJ-A4O9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d11056-89fb-495c-8ae6-6e87e9502986 14c9fe92-30f5-4056-8d14-b3cb0ddf2094 g.chr19:51207039delG ENST00000293441.1 - 10 1289 c.1271delC c.(1270-1272)cafs p.P424fs SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 424 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding 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 --- --- --- ---