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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut AJAP1 55966 broad.mit.edu 37 1 4829977 4829977 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:4829977C>T uc001alm.1 + 3 1275 c.894C>T c.(892-894)ATC>ATT p.I298I AJAP1_uc001aln.2_Silent_p.I298I NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 298 Helical; Signal-anchor for type III membrane protein; (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CTGCTCTCATCACAACTCTTG 0.537 NA 40 149 0 0 0 0 EXTL1 2134 broad.mit.edu 37 1 26360245 26360245 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:26360245C>T uc001blf.2 + 9 2444 c.1577C>T c.(1576-1578)ACG>ATG p.T526M NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 526 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTCCTGACGTCGAGCCAT 0.582 NA 36 94 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39908232 39908232 + Missense_Mutation SNP A A T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:39908232A>T uc010oiu.1 + 42 14557 c.14426A>T c.(14425-14427)AAG>ATG p.K4809M MACF1_uc010ois.1_Missense_Mutation_p.K4307M NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGCTCGCAAAGCACCATGTA 0.403 NA 24 39 0 0 0 0 CRNN 49860 broad.mit.edu 37 1 152383314 152383314 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:152383314C>A uc001ezx.2 - 3 318 c.244G>T c.(244-246)GCC>TCC p.A82S NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 82 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGGCCTGGGCAACTTTAAAC 0.567 NA 22 128 0.000175454 0.000205004 1 0 CD48 962 broad.mit.edu 37 1 160650998 160650998 + Missense_Mutation SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:160650998T>C uc001fwn.2 - 3 678 c.646A>G c.(646-648)ACC>GCC p.T216A CD48_uc001fwo.1_Missense_Mutation_p.T216A NM_001778 NP_001769 P09326 CD48_HUMAN CD48 molecule precursor 216 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding 0 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTACCCAGGGTACAGGGTGGA 0.522 NA 13 51 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738863 176738863 + Missense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:176738863G>A uc001gkz.2 + 16 5608 c.4444G>A c.(4444-4446)GGA>AGA p.G1482R PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1482 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CTGCTCAGAGGGAACCAAATT 0.522 NA 15 139 0 0 0 0 PIGR 5284 broad.mit.edu 37 1 207109003 207109003 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:207109003C>T uc001hez.2 - 5 1390 c.1206G>A c.(1204-1206)GAG>GAA p.E402E PIGR_uc009xbz.2_Silent_p.E402E NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 402 Ig-like V-type 4.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 TAACCCACCCCTCGCTGTCCA 0.627 NA OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 37 0 0 0 0 YOD1 55432 broad.mit.edu 37 1 207222672 207222672 + Missense_Mutation SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:207222672T>C uc001hfe.1 - 2 787 c.740A>G c.(739-741)GAT>GGT p.D247G PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.D203G NM_018566 NP_061036 Q5VVQ6 OTU1_HUMAN YOD1 OTU deubiquinating enzyme 1 homolog 247 OTU. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 Prostate(682;0.19) CCCAAAACGATCAATTCTTAC 0.403 NA 47 119 0 0 0 0 FH 2271 broad.mit.edu 37 1 241680611 241680611 + Missense_Mutation SNP G G C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:241680611G>C uc001hyx.2 - 2 170 c.138C>G c.(136-138)AGC>AGG p.S46R NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 46 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) AGGAATTTTGGCTTGCCTAAA 0.378 NA Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 11 36 0 0 0 0 OR2T34 127068 broad.mit.edu 37 1 248737781 248737781 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:248737781C>T uc001iep.1 - 1 278 c.278G>A c.(277-279)GGA>GAA p.G93E NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTATCATCTCCAGTGACCTG 0.562 NA 17 57 0 0 0 0 PRLHR 2834 broad.mit.edu 37 10 120353933 120353933 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr10:120353933C>A uc001ldp.1 - 2 963 c.824G>T c.(823-825)CGC>CTC p.R275L NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 275 Cytoplasmic (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCAGAAGGTGCGCCGGCGCCG 0.687 NA 7 25 2.01e-06 2.48e-06 1 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C A rs104894229 TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr11:534289C>A uc001lpv.2 - 2 222 c.34G>T c.(34-36)GGC>TGC p.G12C HRAS_uc010qvw.1_Missense_Mutation_p.G12C|HRAS_uc010qvx.1_Missense_Mutation_p.G12C|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 12 GTP. G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 7 44 2.01e-06 2.48e-06 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651181 1651181 + Silent SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr11:1651181C>A uc001lty.2 + 1 149 c.111C>A c.(109-111)GGC>GGA p.G37G NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 37 keratin filament lung(1) 1 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) gctgtgggggctgtggctccg 0.08 NA 21 87 1.64e-13 2.16e-13 1 0 MRVI1 10335 broad.mit.edu 37 11 10650331 10650331 + Missense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr11:10650331G>A uc010rcc.1 - 6 1005 c.619C>T c.(619-621)CGG>TGG p.R207W MRVI1_uc001miw.2_Missense_Mutation_p.R198W|MRVI1_uc010rcb.1_Missense_Mutation_p.R198W|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.R116W|MRVI1_uc009ygc.1_Missense_Mutation_p.R116W|MRVI1_uc010rcd.1_Missense_Mutation_p.R207W|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 198 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GAGTTGCTCCGAGAGGATGTA 0.597 NA 4 2 0 0 0 0 CAT 847 broad.mit.edu 37 11 34485744 34485744 + Missense_Mutation SNP C C T rs139875365 by1000genomes TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr11:34485744C>T uc001mvm.2 + 10 1371 c.1288C>T c.(1288-1290)CGG>TGG p.R430W CAT_uc009ykc.1_RNA|CAT_uc001mvn.2_Missense_Mutation_p.R39W NM_001752 NP_001743 P04040 CATA_HUMAN catalase 430 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TGGAGAAGTGCGGAGATTCAA 0.463 NA 25 77 0 0 0 0 ALG10 84920 broad.mit.edu 37 12 34179455 34179455 + Missense_Mutation SNP G G C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr12:34179455G>C uc001rlm.2 + 3 1346 c.1027G>C c.(1027-1029)GCT>CCT p.A343P NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 343 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) ATTCACTTATGCTCATAAATA 0.303 NA 22 87 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49415846 49415846 + Nonsense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr12:49415846G>A uc001rta.3 - 53 16501 c.16501C>T c.(16501-16503)CGA>TGA p.R5501* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5501 SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.R5231*(1) kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTGGGGATTCGCCGGCTGGAG 0.512 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 45 127 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125398267 125398267 + Silent SNP A A C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr12:125398267A>C uc001ugs.3 - 2 499 c.51T>G c.(49-51)GTT>GTG p.V17V UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V17V|UBC_uc001ugt.2_Silent_p.V17V|UBC_uc001ugv.2_Silent_p.V17V|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 17 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CACTGGGCTCAACCTCGAGGG 0.473 NA 4 216 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70549904 70549904 + Silent SNP A A C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr13:70549904A>C uc001vip.2 - 2 1322 c.528T>G c.(526-528)CCT>CCG p.P176P KLHL1_uc010thm.1_Intron NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 176 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AATCACTTTGAGGTGTCATTG 0.338 NA 14 42 0 0 0 0 RNF113B 140432 broad.mit.edu 37 13 98828825 98828825 + Silent SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr13:98828825G>A uc001vnk.2 - 1 697 c.666C>T c.(664-666)CTC>CTT p.L222L FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 222 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TCTCCCACCCGAGCTTGTAAT 0.532 NA 32 93 0 0 0 0 CHD8 57680 broad.mit.edu 37 14 21863099 21863099 + Nonsense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr14:21863099C>A uc001was.1 - 30 4619 c.4525G>T c.(4525-4527)GAA>TAA p.E1509* CHD8_uc001war.1_Nonsense_Mutation_p.E1405*|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1788 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CGTGCAATTTCTTTCAGCTTG 0.493 NA 24 62 5.62e-17 7.51e-17 1 0 PSMC6 5706 broad.mit.edu 37 14 53175510 53175510 + Missense_Mutation SNP A A T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr14:53175510A>T uc010tqx.1 + 4 276 c.276A>T c.(274-276)AGA>AGT p.R92S PSMC6_uc010tqv.1_Missense_Mutation_p.R92S|PSMC6_uc010tqw.1_Missense_Mutation_p.R58S NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 78 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) ATGGACCAAGATATGTTGTGG 0.219 NA 15 42 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42109605 42109605 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr15:42109605C>T uc001zok.3 + 16 2035 c.1749C>T c.(1747-1749)CGC>CGT p.R583R MAPKBP1_uc001zoj.3_Silent_p.R577R|MAPKBP1_uc010bcj.2_Silent_p.R84R|MAPKBP1_uc010bci.2_Silent_p.R577R|MAPKBP1_uc010udb.1_Silent_p.R416R|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.R84R NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 583 WD 9. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GGCAAGTCCGCATGATCAGCT 0.612 NA 18 52 0 0 0 0 TP53BP1 7158 broad.mit.edu 37 15 43771645 43771645 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr15:43771645C>T uc001zrs.2 - 7 871 c.723G>A c.(721-723)CAG>CAA p.Q241Q TP53BP1_uc010udp.1_Silent_p.Q241Q|TP53BP1_uc001zrq.3_Silent_p.Q246Q|TP53BP1_uc001zrr.3_Silent_p.Q246Q|TP53BP1_uc010udq.1_Silent_p.Q246Q NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 241 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCTTACTGGGCTGTGCTGTCA 0.418 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 29 61 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27504019 27504019 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr16:27504019C>T uc002dov.1 - 18 2932 c.2892G>A c.(2890-2892)TCG>TCA p.S964S GTF3C1_uc002dou.2_Silent_p.S964S NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 964 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCTCCACCACCGAAAAAATGT 0.557 NA 32 74 0 0 0 0 FHOD1 29109 broad.mit.edu 37 16 67264614 67264614 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr16:67264614C>T uc002esl.2 - 18 2860 c.2748G>A c.(2746-2748)TTG>TTA p.L916L FHOD1_uc002esk.2_5'UTR|FHOD1_uc010ced.2_Silent_p.L723L NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 916 Potential.|FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CATGCTTGGCCAAGCTCCGCA 0.662 NA 41 150 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10369888 10369888 + Missense_Mutation SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:10369888T>C uc002gmn.2 - 3 286 c.175A>G c.(175-177)AAG>GAG p.K59E uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 59 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCTGTCACCTTCCCCCCTTCC 0.463 NA 3 235 0 0 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39253956 39253956 + Silent SNP G G A rs139720993 by1000genomes TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:39253956G>A uc010wfo.1 - 1 420 c.381C>T c.(379-381)CCC>CCT p.P127P NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 127 21.|25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament 0 tgctgcagctggggcggcagc 0.104 NA 5 11 0 0 0 0 ADAM11 4185 broad.mit.edu 37 17 42855361 42855361 + Nonsense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:42855361G>A uc002ihh.2 + 24 2112 c.2112G>A c.(2110-2112)TGG>TGA p.W704* ADAM11_uc010wjd.1_Nonsense_Mutation_p.W504*|ADAM11_uc002ihi.2_Missense_Mutation_p.G57E NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 704 EGF-like.|Extracellular (Potential). integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) AGCCAGACTGGACAGGCAAAG 0.612 NA 37 127 0 0 0 0 CA4 762 broad.mit.edu 37 17 58234830 58234830 + Missense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:58234830G>A uc002iym.3 + 4 405 c.311G>A c.(310-312)GGA>GAA p.G104E CA4_uc010wou.1_Intron NM_000717 NP_000708 P22748 CAH4_HUMAN carbonic anhydrase IV precursor 104 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TCTGGAGGAGGACTGCCTGCC 0.587 NA 23 92 0 0 0 0 TNRC6C 57690 broad.mit.edu 37 17 76082938 76082938 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:76082938C>T uc002jud.2 + 14 4166 c.3566C>T c.(3565-3567)GCG>GTG p.A1189V TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1189 Potential. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGCCAGGTTGCGCGCACAATC 0.592 NA 5 166 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8174522 8174522 + Silent SNP G G T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr19:8174522G>T uc002mjf.2 - 34 4470 c.4449C>A c.(4447-4449)GGC>GGA p.G1483G NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1483 EGF-like 23; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CACCCACGCAGCCCACTCCGC 0.582 NA 24 79 5.35e-11 6.99e-11 1 0 MAST1 22983 broad.mit.edu 37 19 12958457 12958457 + Missense_Mutation SNP G G C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr19:12958457G>C uc002mvm.2 + 6 648 c.520G>C c.(520-522)GAG>CAG p.E174Q MAST1_uc002mvk.2_Missense_Mutation_p.E170Q|MAST1_uc002mvl.2_Silent_p.T147T NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 174 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CTACGACAACGAGATCGTGAT 0.652 NA OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 54 0 0 0 0 SYMPK 8189 broad.mit.edu 37 19 46318949 46318949 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr19:46318949C>T uc002pdn.2 - 27 3939 c.3694G>A c.(3694-3696)GCA>ACA p.A1232T RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1232 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CCGCCCGCTGCCGTCTCCTGG 0.701 NA 4 13 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55107315 55107315 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr19:55107315C>T uc002qgh.1 + 6 1055 c.873C>T c.(871-873)TAC>TAT p.Y291Y LILRA2_uc010yfg.1_Silent_p.Y289Y|LILRA1_uc010yfh.1_Silent_p.Y291Y NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 291 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) GCCGCTCCTACGGGGGCCAGT 0.662 NA 28 70 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197183966 197183966 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr2:197183966C>T uc002utm.1 - 9 1831 c.1648G>A c.(1648-1650)GGT>AGT p.G550S HECW2_uc002utl.1_Missense_Mutation_p.G194S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 550 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CCGCCTTCACCTTCCTCTGGG 0.582 NA 13 41 0 0 0 0 KCNE4 23704 broad.mit.edu 37 2 223918016 223918016 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr2:223918016C>T uc002vnl.3 + 2 622 c.468C>T c.(466-468)AAC>AAT p.N156N NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 156 Cytoplasmic (Potential). integral to membrane voltage-gated potassium channel activity ovary(1) 1 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CGCCCCTCAACGAGAGCAGCG 0.627 NA 10 40 0 0 0 0 VPS16 64601 broad.mit.edu 37 20 2844656 2844656 + Missense_Mutation SNP A A G TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr20:2844656A>G uc002whe.2 + 16 1586 c.1538A>G c.(1537-1539)GAC>GGC p.D513G VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.D369G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.D199G|VPS16_uc002whi.2_5'UTR NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 513 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 AAGCTGGGGGACACGCCTGGT 0.582 NA 5 64 0 0 0 0 PHACTR3 116154 broad.mit.edu 37 20 58318189 58318189 + Missense_Mutation SNP G G A rs143288140 TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr20:58318189G>A uc002yau.2 + 2 613 c.146G>A c.(145-147)CGT>CAT p.R49H PHACTR3_uc002yat.2_Missense_Mutation_p.R46H|PHACTR3_uc010zzw.1_Missense_Mutation_p.R8H|PHACTR3_uc002yav.2_Missense_Mutation_p.R8H|PHACTR3_uc002yaw.2_Missense_Mutation_p.R8H|PHACTR3_uc002yax.2_Missense_Mutation_p.R8H NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 49 nuclear matrix actin binding|protein phosphatase inhibitor activity p.R49H(1) ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CCCCCGGCGCGTCCTGAATAT 0.567 NA 24 86 0 0 0 0 SFRS15 57466 broad.mit.edu 37 21 33065610 33065610 + Missense_Mutation SNP T T A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr21:33065610T>A uc002ypd.2 - 12 1936 c.1510A>T c.(1510-1512)AGT>TGT p.S504C SFRS15_uc002ype.2_Missense_Mutation_p.S504C|SFRS15_uc010glu.2_Missense_Mutation_p.S489C|SFRS15_uc002ypf.1_Missense_Mutation_p.S178C NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 504 nucleus nucleotide binding|RNA binding 0 GAGTTACCACTTGCAGTTTCC 0.388 NA 20 58 0 0 0 0 ZNF860 344787 broad.mit.edu 37 3 32032156 32032156 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr3:32032156C>T uc011axg.1 + 2 2134 c.1585C>T c.(1585-1587)CAT>TAT p.H529Y NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 529 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGCACGTCATCATAGACTTCA 0.383 NA 19 41 0 0 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr3:97887879T>C uc011bgu.1 + 1 336 c.336T>C c.(334-336)TGT>TGC p.C112C NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCACAGAATGTTTTCTCTTGG 0.378 NA 3 143 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126733334 126733334 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr3:126733334C>T uc003ejg.2 + 12 2553 c.2549C>T c.(2548-2550)ACG>ATG p.T850M NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 873 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TCCCCCGAGACGGGCCCGAGG 0.706 NA 9 33 0 0 0 0 LRRC15 131578 broad.mit.edu 37 3 194080356 194080356 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr3:194080356C>A uc003ftu.2 - 2 1503 c.1417G>T c.(1417-1419)GTT>TTT p.V473F LRRC15_uc003ftt.2_Missense_Mutation_p.V479F NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 473 LRRCT.|Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) ACGCTTGGAACAGCAACGTTG 0.542 NA 6 25 8.13e-05 9.65e-05 1 0 PDS5A 23244 broad.mit.edu 37 4 39978105 39978105 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:39978105C>T uc003guv.3 - 2 633 c.93G>A c.(91-93)GAG>GAA p.E31E PDS5A_uc010ifo.2_5'UTR|PDS5A_uc003guw.3_Silent_p.E31E NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 31 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TGTCGGTGATCTCTTTTACCC 0.567 NA OREG0016159 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 107 0 0 0 0 ALPK1 80216 broad.mit.edu 37 4 113347690 113347690 + Silent SNP G G T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:113347690G>T uc003iap.3 + 8 969 c.690G>T c.(688-690)CCG>CCT p.P230P ALPK1_uc003ian.3_Silent_p.P230P|ALPK1_uc011cfx.1_Silent_p.P152P|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Silent_p.P58P NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 230 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTCCTCAGCCGGATAAAAAGG 0.423 NA 19 64 8.1e-08 1.03e-07 1 0 FAT4 79633 broad.mit.edu 37 4 126373729 126373729 + Missense_Mutation SNP G G T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:126373729G>T uc003ifj.3 + 9 11558 c.11558G>T c.(11557-11559)GGA>GTA p.G3853V FAT4_uc011cgp.1_Missense_Mutation_p.G2151V|FAT4_uc003ifi.1_Missense_Mutation_p.G1331V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3853 Extracellular (Potential).|EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGTCTGCCAGGATATGCGGGT 0.463 NA 11 46 7.04e-09 9.03e-09 1 0 PCDH10 57575 broad.mit.edu 37 4 134071537 134071537 + Missense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:134071537G>A uc003iha.2 + 1 1068 c.242G>A c.(241-243)CGC>CAC p.R81H uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R81H NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 81 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AAAATAGACCGCGAACAAATC 0.567 NA 27 90 0 0 0 0 SCOC 60592 broad.mit.edu 37 4 141300319 141300319 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:141300319C>A uc003iif.2 + 2 253 c.226C>A c.(226-228)CCC>ACC p.P76T SCOC_uc003iib.2_Missense_Mutation_p.P39T|SCOC_uc011che.1_Missense_Mutation_p.P39T|SCOC_uc003iid.2_Missense_Mutation_p.P39T|SCOC_uc011chf.1_Missense_Mutation_p.P39T|SCOC_uc011chg.1_Missense_Mutation_p.P39T|SCOC_uc011chh.1_Missense_Mutation_p.P76T|SCOC_uc003iig.2_Missense_Mutation_p.P76T NM_001153484 NP_001146956 Q9UIL1 SCOC_HUMAN short coiled-coil protein isoform 1 76 Golgi apparatus|nucleus protein binding 0 all_hematologic(180;0.162) AAGTTTGTTACCCAAGATGAT 0.343 NA 23 113 5.62e-17 7.51e-17 1 0 ZNF827 152485 broad.mit.edu 37 4 146770712 146770712 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:146770712C>T uc003ikn.2 - 6 2031 c.1983G>A c.(1981-1983)GCG>GCA p.A661A ZNF827_uc003ikm.2_Silent_p.A661A|ZNF827_uc010iox.2_Silent_p.A311A NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TGTAGCTTTCCGCTGCAAGTA 0.438 NA 21 84 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187629108 187629108 + Nonsense_Mutation SNP G G T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:187629108G>T uc003izf.2 - 2 2062 c.1874C>A c.(1873-1875)TCA>TAA p.S625* FAT1_uc010iso.1_Nonsense_Mutation_p.S625* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 625 Extracellular (Potential).|Cadherin 5. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TCGCTTTAATGACAATACCCC 0.408 NA HNSCC(5;0.00058) 18 45 1.01e-13 1.33e-13 1 0 SDHA 6389 broad.mit.edu 37 5 225544 225544 + Missense_Mutation SNP A A G TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr5:225544A>G uc003jao.3 + 4 438 c.323A>G c.(322-324)AAT>AGT p.N108S SDHA_uc003jan.2_Missense_Mutation_p.N108S|SDHA_uc011clv.1_Missense_Mutation_p.N108S|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Missense_Mutation_p.N108S|SDHA_uc003jaq.3_5'Flank NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 108 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GGAGGAATCAATGCTGCTCTG 0.572 NA Familial_Paragangliomas 4 97 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263259 140263259 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr5:140263259C>T uc003lif.2 + 1 1406 c.1406C>T c.(1405-1407)CCG>CTG p.P469L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P469L|PCDHA13_uc003lid.2_Missense_Mutation_p.P469L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 469 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAACAATCCGCCGGGCTGC 0.677 NA 44 121 0 0 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533761 156533761 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr5:156533761C>T uc003lwk.1 - 2 415 c.271G>A c.(271-273)GGA>AGA p.G91R HAVCR2_uc003lwl.2_Missense_Mutation_p.G91R NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 91 Ig-like V-type.|Extracellular (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACACATCTCCTTTGCGGAAA 0.453 NA 4 133 0 0 0 0 ODZ2 57451 broad.mit.edu 37 5 167545383 167545383 + Missense_Mutation SNP G G T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr5:167545383G>T uc010jjd.2 + 10 1900 c.1900G>T c.(1900-1902)GAC>TAC p.D634Y ODZ2_uc003lzq.2_Missense_Mutation_p.D513Y|ODZ2_uc003lzr.3_Missense_Mutation_p.D402Y|ODZ2_uc003lzt.3_5'UTR|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGCAGAGTGCGACGTGCCCAT 0.572 NA 49 179 3.86e-30 5.33e-30 1 0 DRD1 1812 broad.mit.edu 37 5 174869350 174869350 + Silent SNP G G A rs147169569 TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr5:174869350G>A uc003mcz.2 - 2 1698 c.753C>T c.(751-753)GTC>GTT p.V251V NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 251 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GAGAACATTCGACAGGCTTTC 0.478 NA 26 82 0 0 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271609 26271609 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr6:26271609C>A uc003nhi.2 - 1 4 c.4G>T c.(4-6)GCC>TCC p.A2S uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank NM_003534 NP_003525 P68431 H31_HUMAN H3 histone family, member H 2 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 TTGGTGCGGGCCATCTCAGAC 0.552 NA 11 44 3.86e-05 4.63e-05 1 0 KCNK5 8645 broad.mit.edu 37 6 39159505 39159505 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr6:39159505C>A uc003oon.2 - 5 1025 c.661G>T c.(661-663)GCC>TCC p.A221S NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 221 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CGGTACAGGGCGTGGTAGTTG 0.567 NA 42 109 6.53e-18 8.83e-18 1 0 USP49 25862 broad.mit.edu 37 6 41774580 41774580 + Missense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr6:41774580G>A uc003ori.2 - 4 364 c.142C>T c.(142-144)CGC>TGC p.R48C NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 48 UBP-type. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCAATATAGCGGCCGCAGGCC 0.592 NA 5 132 0 0 0 0 KIAA0240 23506 broad.mit.edu 37 6 42796801 42796801 + Nonsense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr6:42796801C>T uc003osn.1 + 6 881 c.730C>T c.(730-732)CAA>TAA p.Q244* KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q244* NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 244 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) CAGCGGGCAGCAAGCCCCATC 0.448 NA 16 47 0 0 0 0 CHRM2 1129 broad.mit.edu 37 7 136699801 136699801 + Silent SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr7:136699801C>T uc003vtf.1 + 4 812 c.189C>T c.(187-189)TTC>TTT p.F63F CHRM2_uc003vtg.1_Silent_p.F63F|CHRM2_uc003vtj.1_Silent_p.F63F|CHRM2_uc003vtk.1_Silent_p.F63F|CHRM2_uc003vtl.1_Silent_p.F63F|CHRM2_uc003vtm.1_Silent_p.F63F|CHRM2_uc003vti.1_Silent_p.F63F|CHRM2_uc003vto.1_Silent_p.F63F|CHRM2_uc003vtn.1_Silent_p.F63F|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 63 Helical; Name=2; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACTTTTTATTCAGCTTGGCCT 0.468 NA 33 94 0 0 0 0 MCM4 4173 broad.mit.edu 37 8 48883929 48883929 + Missense_Mutation SNP G G T rs151044076 TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr8:48883929G>T uc003xqk.1 + 13 1924 c.1829G>T c.(1828-1830)CGC>CTC p.R610L MCM4_uc003xql.1_Missense_Mutation_p.R610L|MCM4_uc011ldi.1_Missense_Mutation_p.R597L NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 610 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CTCAATGCGCGCACCTCTGTC 0.493 NA 7 32 0.000274275 0.000317131 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110503288 110503288 + Missense_Mutation SNP T T A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr8:110503288T>A uc003yne.2 + 61 10176 c.10072T>A c.(10072-10074)TTG>ATG p.L3358M NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3358 Extracellular (Potential).|PbH1 6. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACAGATGGATTGGACATAGA 0.378 NA HNSCC(38;0.096) 26 58 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139164609 139164609 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr8:139164609C>A uc003yuy.2 - 13 2280 c.2109G>T c.(2107-2109)AGG>AGT p.R703S FAM135B_uc003yux.2_Missense_Mutation_p.R604S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R265S|FAM135B_uc003yvb.2_Missense_Mutation_p.R265S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 703 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACTCCAGAGCCCTGCTTCGGG 0.547 NA HNSCC(54;0.14) 12 52 1.09e-07 1.38e-07 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145771119 145771119 + Missense_Mutation SNP C C T rs141083413 TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr8:145771119C>T uc003zdt.1 - 7 2590 c.2035G>A c.(2035-2037)GTC>ATC p.V679I ARHGAP39_uc011llk.1_Missense_Mutation_p.V679I|ARHGAP39_uc003zds.1_Missense_Mutation_p.V679I NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 679 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GTGGGGAAGACGCAGCTGGAG 0.647 NA 9 40 0 0 0 0 UBAP1 51271 broad.mit.edu 37 9 34241766 34241766 + Missense_Mutation SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:34241766T>C uc003ztx.2 + 4 978 c.743T>C c.(742-744)CTG>CCG p.L248P UBAP1_uc010mka.1_Missense_Mutation_p.L284P|UBAP1_uc003zty.2_Missense_Mutation_p.L248P|UBAP1_uc011loi.1_Missense_Mutation_p.L284P|UBAP1_uc011loj.1_Missense_Mutation_p.L312P|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.L248P NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 248 cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) AAGATGTCACTGTCTTCCAAA 0.468 NA 18 34 0 0 0 0 FGD3 89846 broad.mit.edu 37 9 95776270 95776270 + Missense_Mutation SNP A A C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:95776270A>C uc004asw.2 + 9 1800 c.1172A>C c.(1171-1173)CAC>CCC p.H391P FGD3_uc004asx.2_Missense_Mutation_p.H391P|FGD3_uc004asz.2_Missense_Mutation_p.H391P|FGD3_uc004ata.2_Missense_Mutation_p.H194P|FGD3_uc011luc.1_5'Flank NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 391 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 CAGGACCGCCACCTCTTCCTG 0.632 NA 10 109 0 0 0 0 CRB2 286204 broad.mit.edu 37 9 126133118 126133118 + Missense_Mutation SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:126133118G>A uc004bnx.1 + 7 1878 c.1786G>A c.(1786-1788)GGT>AGT p.G596S CRB2_uc004bnw.1_Missense_Mutation_p.G596S NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 596 Extracellular (Potential).|Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TGAGGATCTCGGTGAGAACGT 0.652 NA 3 68 0 0 0 0 FAM78A 286336 broad.mit.edu 37 9 134136553 134136553 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:134136553C>T uc004cak.2 - 2 848 c.508G>A c.(508-510)GTG>ATG p.V170M FAM78A_uc004caj.2_Missense_Mutation_p.V167M NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 170 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CTGACGGGCACGGCCCATGTG 0.577 NA 26 70 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135147149 135147149 + Missense_Mutation SNP C C T TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:135147149C>T uc004cbk.2 - 24 7330 c.7147G>A c.(7147-7149)GAT>AAT p.D2383N SETX_uc004cbj.2_Missense_Mutation_p.D2002N|SETX_uc010mzt.2_Intron NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2383 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATAACACAATCCTTCTGCCGA 0.368 NA 7 177 0 0 0 0 C9orf171 389799 broad.mit.edu 37 9 135447890 135447890 + Missense_Mutation SNP A A C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:135447890A>C uc004cbn.2 + 7 1004 c.956A>C c.(955-957)CAC>CCC p.H319P C9orf171_uc004cbo.2_Missense_Mutation_p.H283P NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 319 ovary(4)|large_intestine(1) 5 AACTACACCCACCCCTAGCCC 0.597 NA 6 27 0 0 0 0 C9orf96 169436 broad.mit.edu 37 9 136253278 136253278 + Missense_Mutation SNP C C A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr9:136253278C>A uc004cdk.2 + 5 403 c.342C>A c.(340-342)AGC>AGA p.S114R C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 114 Protein kinase. ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ATGAGCTCAGCTTCCAGGAGG 0.567 NA 20 63 5.5e-05 6.56e-05 1 0 IRAK1 3654 broad.mit.edu 37 X 153278841 153278841 + Missense_Mutation SNP A A C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chrX:153278841A>C uc004fjs.1 - 12 1662 c.1583T>G c.(1582-1584)GTG>GGG p.V528G IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.V449G|IRAK1_uc010nur.2_Intron NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 528 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGCCCGGGCACCCCCGCCAC 0.662 NA 6 21 0 0 0 0 WDTC1 23038 broad.mit.edu 37 1 27614251 27614252 + Frame_Shift_Ins INS - - AT TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr1:27614251_27614252insAT uc009vst.2 + 6 913_914 c.378_379insAT c.(376-381)ACCATCfs p.T126fs WDTC1_uc001bno.2_Frame_Shift_Ins_p.T126fs|WDTC1_uc001bnp.1_RNA NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 126_127 WD 2. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) TAAAGGAGACCATCCACATGTT 0.564 NA 11 21 --- --- --- --- NA NA NA NA SFRS8 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr12:132281734_132281736delAGA uc001uja.1 + 16 2686_2688 c.2546_2548delAGA c.(2545-2550)GAGAAG>GAG p.K853del SFRS8_uc010tbn.1_In_Frame_Del_p.K905del NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 853 Poly-Lys.|Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) AGTCCCCACGAGAAGAAGAAGAA 0.493 NA 7 238 --- --- --- --- NA NA NA NA SRCAP 10847 broad.mit.edu 37 16 30749849 30749850 + Frame_Shift_Ins INS - - A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr16:30749849_30749850insA uc002dze.1 + 34 8873_8874 c.8488_8489insA c.(8488-8490)CACfs p.H2830fs SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.H2625fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2830 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TGCTCGCCGTCACATTGAGCTG 0.644 NA 18 84 --- --- --- --- NA NA NA NA KSR1 8844 broad.mit.edu 37 17 25936285 25936286 + Frame_Shift_Del DEL TA TA - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:25936285_25936286delTA uc010crg.2 + 17 2255_2256 c.1810_1811delTA c.(1810-1812)TATfs p.Y604fs KSR1_uc002gzm.2_Frame_Shift_Del_p.Y383fs|KSR1_uc002gzn.2_5'Flank NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 739 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GAACGTCTTCTATGACAACGGC 0.525 NA 38 114 --- --- --- --- NA NA NA NA NUFIP2 57532 broad.mit.edu 37 17 27613086 27613087 + Frame_Shift_Del DEL TC TC - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr17:27613086_27613087delTC uc002hdy.3 - 2 2014_2015 c.1925_1926delGA c.(1924-1926)AGAfs p.R642fs NUFIP2_uc002hdx.3_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 642 nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) CTCTCTGGTATCTCTGTTCTTT 0.426 NA 9 39 --- --- --- --- NA NA NA NA IRF2BP1 26145 broad.mit.edu 37 19 46388435 46388436 + Frame_Shift_Del DEL TC TC - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr19:46388435_46388436delTC uc002pds.1 - 1 941_942 c.597_598delGA c.(595-600)GAGAAGfs p.E199fs NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 199_200 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CTCTGCTGCTTCTCTTTCTCGA 0.644 NA 55 158 --- --- --- --- NA NA NA NA KLK4 9622 broad.mit.edu 37 19 51413946 51413946 + Frame_Shift_Del DEL G G - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr19:51413946delG uc002pua.1 - 1 49 c.49delC c.(49-51)CTTfs p.L17fs KLK4_uc002pty.1_5'Flank|KLK4_uc002ptz.1_5'Flank|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'Flank|KLK4_uc002pud.1_5'Flank NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 17 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GCGACACCAAGGATGAGGTAC 0.552 NA 2 4 --- --- --- --- NA NA NA NA NINL 22981 broad.mit.edu 37 20 25460831 25460831 + Frame_Shift_Del DEL T T - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr20:25460831delT uc002wux.1 - 15 1957 c.1883delA c.(1882-1884)CATfs p.H628fs NINL_uc010gdn.1_Frame_Shift_Del_p.H628fs|NINL_uc010gdo.1_Frame_Shift_Del_p.H411fs NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 628 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GTCTTGGTAATGCTCCTTTAC 0.532 NA 16 44 --- --- --- --- NA NA NA NA CDKL2 8999 broad.mit.edu 37 4 76539580 76539580 + Frame_Shift_Del DEL T T - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:76539580delT uc003hiq.2 - 3 747 c.222delA c.(220-222)AAAfs p.K74fs CDKL2_uc011cbp.1_Frame_Shift_Del_p.K74fs|CDKL2_uc010iix.1_Intron NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 74 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GGTACCATCGTTTTTTTTTCT 0.323 NA 14 34 --- --- --- --- NA NA NA NA HNRNPD 3184 broad.mit.edu 37 4 83280734 83280735 + Frame_Shift_Ins INS - - C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr4:83280734_83280735insC uc003hmm.1 - 3 666_667 c.348_349insG c.(346-351)TACTTTfs p.Y116fs HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc003hmo.1_Frame_Shift_Ins_p.Y116fs|HNRNPD_uc003hmp.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc010ijr.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc011cci.1_Intron NM_031370 NP_112738 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D 116_117 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding 0 AATTTGGAAAAGTAGTCCTTCA 0.376 NA 31 55 --- --- --- --- NA NA NA NA NR2E1 7101 broad.mit.edu 37 6 108508599 108508599 + Frame_Shift_Del DEL A A - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 172e7b30-829e-40b2-976e-4971cd1724a9 207e1907-6829-4ac9-8e37-606e14db40a3 g.chr6:108508599delA uc003psg.2 + 9 1845 c.1090delA c.(1090-1092)AAAfs p.K364fs NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 364 Required for transcriptional repression (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) AGTGTTTTTCAAAAAAACCAT 0.408 NA 45 137 --- --- --- --- NA NA NA NA