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 OXCT2 64064 broad.mit.edu 37 1 40235523 40235523 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr1:40235523C>T uc001ceb.1 - 1 1498 c.1405G>A c.(1405-1407)GAG>AAG p.E469K BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.E463K NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 precursor 469 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity pancreas(1) 1 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) ACGGCCTTCTCGGTGATGATG 0.592 DMRTB1 63948 broad.mit.edu 37 1 53930361 53930361 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr1:53930361C>T uc001cvq.1 + 3 857 c.802C>T c.(802-804)CCG>TCG p.P268S NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 268 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 gccgccgccgccgccgccact 0.557 SELE 6401 broad.mit.edu 37 1 169698648 169698648 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr1:169698648G>A uc001ggm.3 - 6 1039 c.882C>T c.(880-882)AAC>AAT p.N294N C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 294 Sushi 2.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) TTGGCTTCTCGTTGTCCCAAT 0.458 USH2A 7399 broad.mit.edu 37 1 215931985 215931985 + Missense_Mutation SNP T C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr1:215931985T>C uc001hku.1 - 58 11728 c.11341A>G c.(11341-11343)ATC>GTC p.I3781V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3781 Fibronectin type-III 23.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTACTGTGATATTATATGGA 0.353 HNSCC(13;0.011) OR2L1P 26247 broad.mit.edu 37 1 248154287 248154287 + Missense_Mutation SNP T C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr1:248154287T>C uc001idv.1 + 1 719 c.475T>C c.(475-477)TGC>CGC p.C159R OR2L13_uc001ids.2_Intron NR_002145 RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53; 0 CTATTCGACCTGCAGCACCCA 0.498 OR2T4 127074 broad.mit.edu 37 1 248525822 248525822 + Missense_Mutation SNP A T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr1:248525822A>T uc001ieh.1 + 1 940 c.940A>T c.(940-942)ACT>TCT p.T314S NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 314 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 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) TACCATCCTCACTCCAGTGGT 0.463 GRID1 2894 broad.mit.edu 37 10 87628864 87628864 + Missense_Mutation SNP A G G TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr10:87628864A>G uc001kdl.1 - 6 955 c.854T>C c.(853-855)TTT>TCT p.F285S GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 285 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGCAGACGGAAAGATTTGCCG 0.542 Multiple Myeloma(13;0.14) PTEN 5728 broad.mit.edu 37 10 89720664 89720664 + Missense_Mutation SNP A C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr10:89720664A>C uc001kfb.2 + 9 1846 c.815A>C c.(814-816)CAC>CCC p.H272P NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 272 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H272Y(1)|p.G165_K342del(1)|p.H272R(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAAATGTTTCACTTTTGGGTA 0.244 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) KCNA4 3739 broad.mit.edu 37 11 30033088 30033088 + Missense_Mutation SNP C A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr11:30033088C>A uc001msk.2 - 2 2290 c.1138G>T c.(1138-1140)GTA>TTA p.V380L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 380 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAAAACCATACAATACAGACT 0.433 OR5A1 219982 broad.mit.edu 37 11 59211187 59211187 + Silent SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr11:59211187C>T uc001nnx.1 + 1 546 c.546C>T c.(544-546)TGC>TGT p.C182C NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 ACTTCTTCTGCGACCTCCCAC 0.537 TMEM109 79073 broad.mit.edu 37 11 60687316 60687316 + Missense_Mutation SNP G C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr11:60687316G>C uc001nqg.2 + 2 529 c.151G>C c.(151-153)GTT>CTT p.V51L TMEM109_uc001nqh.2_Missense_Mutation_p.V51L NM_024092 NP_076997 Q9BVC6 TM109_HUMAN transmembrane protein 109 precursor 51 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane 0 AGAAGCCCCAGTTGATGTCTT 0.557 RIN1 9610 broad.mit.edu 37 11 66102539 66102539 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr11:66102539C>T uc001ohn.1 - 6 858 c.731G>A c.(730-732)AGC>AAC p.S244N RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S139N|RIN1_uc010rpa.1_Missense_Mutation_p.S139N NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 244 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 CACTTTGAAGCTTCTCTTGAA 0.662 NLRX1 79671 broad.mit.edu 37 11 119044727 119044727 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr11:119044727G>A uc001pvu.2 + 5 984 c.769G>A c.(769-771)GGA>AGA p.G257R NLRX1_uc010rzc.1_Missense_Mutation_p.G79R|NLRX1_uc001pvv.2_Missense_Mutation_p.G257R|NLRX1_uc001pvw.2_Missense_Mutation_p.G257R|NLRX1_uc001pvx.2_Missense_Mutation_p.G257R NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 257 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GGCAGGCACGGGACTTTGTAG 0.592 KDM5A 5927 broad.mit.edu 37 12 402172 402172 + Nonsense_Mutation SNP A C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr12:402172A>C uc001qif.1 - 27 4982 c.4619T>G c.(4618-4620)TTA>TGA p.L1540* KDM5A_uc001qie.1_Nonsense_Mutation_p.L1545* NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1540 Lys-rich. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 GTCTGCACCTAATTTTAATTT 0.378 T NUP98 AML CD163 9332 broad.mit.edu 37 12 7639177 7639177 + Missense_Mutation SNP T A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr12:7639177T>A uc001qsz.3 - 10 2504 c.2376A>T c.(2374-2376)GAA>GAT p.E792D CD163_uc001qta.3_Missense_Mutation_p.E792D|CD163_uc009zfw.2_Missense_Mutation_p.E825D NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 792 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 AAATGCGGGATTCTTTTCCAT 0.512 HOXC9 3225 broad.mit.edu 37 12 54396220 54396220 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr12:54396220C>T uc001sep.2 + 3 643 c.545C>T c.(544-546)CCC>CTC p.P182L HOXC9_uc001seq.2_Missense_Mutation_p.P182L NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 182 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 CCAGGCAACCCCGTGGCCAAC 0.577 LRP1 4035 broad.mit.edu 37 12 57581220 57581220 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr12:57581220G>A uc001snd.2 + 42 7478 c.7012G>A c.(7012-7014)GTT>ATT p.V2338I NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2338 LDL-receptor class B 22.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACGGGCCTTCGTTTTGGACGA 0.622 LOC283392 283392 broad.mit.edu 37 12 72666636 72666636 + Missense_Mutation SNP A G G TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr12:72666636A>G uc010stv.1 - 1 654 c.74T>C c.(73-75)GTC>GCC p.V25A TRHDE_uc001sxa.2_Silent_p.R26R NR_026836 Homo sapiens thyrotropin-releasing hormone degrading enzyme, mRNA (cDNA clone IMAGE:4992272). 0 TGGGAGTGCGACCCCGCACCA 0.687 SBNO1 55206 broad.mit.edu 37 12 123782584 123782584 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr12:123782584C>T uc010tap.1 - 30 3980 c.3980G>A c.(3979-3981)GGC>GAC p.G1327D SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.G1326D|SBNO1_uc010taq.1_Missense_Mutation_p.G278D NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1327 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CACGTTTGTGCCACTGACAGA 0.428 MTHFD1 4522 broad.mit.edu 37 14 64882182 64882182 + Missense_Mutation SNP A G G TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr14:64882182A>G uc001xhb.2 + 5 734 c.347A>G c.(346-348)AAT>AGT p.N116S MTHFD1_uc010aqe.2_Missense_Mutation_p.N152S|MTHFD1_uc010aqf.2_Missense_Mutation_p.N172S NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 116 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GAAGTGATCAATGCTATTGCA 0.383 CCDC88C 440193 broad.mit.edu 37 14 91770270 91770270 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr14:91770270G>A uc010aty.2 - 20 3509 c.3410C>T c.(3409-3411)ACG>ATG p.T1137M NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1137 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CTGCAGCAGCGTGTACTGCGC 0.657 OR4N3P 390539 broad.mit.edu 37 15 22413894 22413894 + Missense_Mutation SNP A T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr15:22413894A>T uc001yuf.2 + 1 193 c.193A>T c.(193-195)ATG>TTG p.M65L NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CTATGCAATGATGTTGGCTCT 0.502 ATF7IP2 80063 broad.mit.edu 37 16 10527480 10527480 + Missense_Mutation SNP G C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr16:10527480G>C uc002czu.2 + 4 1161 c.934G>C c.(934-936)GAA>CAA p.E312Q ATF7IP2_uc002czv.2_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TGTAAGTTTGGAAAGGCAAAC 0.328 VWA3A 146177 broad.mit.edu 37 16 22137566 22137566 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr16:22137566C>T uc010vbq.1 + 17 1696 c.1600C>T c.(1600-1602)CGG>TGG p.R534W VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R542W NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 534 VWFA 1. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) GCACTCCCTGCGGCTGCTGCT 0.512 PLCG2 5336 broad.mit.edu 37 16 81942086 81942086 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr16:81942086G>A uc002fgt.2 + 17 1775 c.1623G>A c.(1621-1623)ACG>ACA p.T541T PLCG2_uc010chg.1_Silent_p.T541T NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 541 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 AGAAGAGGACGAGTGCCGAGA 0.552 UBTF 7343 broad.mit.edu 37 17 42284949 42284949 + Missense_Mutation SNP T C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr17:42284949T>C uc002igb.2 - 19 2109 c.2042A>G c.(2041-2043)GAT>GGT p.D681G UBTF_uc002igc.2_Missense_Mutation_p.D644G|UBTF_uc010czs.2_Missense_Mutation_p.D681G|UBTF_uc002igd.2_Missense_Mutation_p.D644G|UBTF_uc010czt.2_Missense_Mutation_p.D681G NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 681 Asp/Glu/Ser-rich (acidic). positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) atcctcttcatcatcctcctc 0.453 DSC2 1824 broad.mit.edu 37 18 28671015 28671015 + Silent SNP A C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr18:28671015A>C uc002kwl.3 - 4 904 c.450T>G c.(448-450)GGT>GGG p.G150G DSC2_uc002kwk.3_Silent_p.G150G NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 150 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTGGAAAAGGACCCAAGGAGT 0.408 DSG3 1830 broad.mit.edu 37 18 29046498 29046498 + Missense_Mutation SNP A T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr18:29046498A>T uc002kws.2 + 11 1526 c.1417A>T c.(1417-1419)ACG>TCG p.T473S NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 473 Cadherin 4.|Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TACAGAATACACGGGTAAAAC 0.358 NEDD4L 23327 broad.mit.edu 37 18 55916158 55916158 + Frame_Shift_Del DEL T - - TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr18:55916158delT uc002lgy.2 + 4 506 c.232delT c.(232-234)TTTfs p.F78fs NEDD4L_uc002lgz.2_Frame_Shift_Del_p.F78fs|NEDD4L_uc002lgx.2_Frame_Shift_Del_p.F78fs|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 78 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 GAATGAAGAATTTTATTTCAG 0.313 CREB3L3 84699 broad.mit.edu 37 19 4171163 4171163 + Silent SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr19:4171163C>T uc002lzl.2 + 8 1082 c.966C>T c.(964-966)ACC>ACT p.T322T CREB3L3_uc002lzm.2_Silent_p.T312T|CREB3L3_uc010xib.1_Silent_p.T311T|CREB3L3_uc010xic.1_Silent_p.L278L NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 322 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) AGACAGGCACCTGTGTCGCAG 0.602 MYO1F 4542 broad.mit.edu 37 19 8616651 8616651 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr19:8616651G>A uc002mkg.2 - 8 858 c.744C>T c.(742-744)GAC>GAT p.D248D MYO1F_uc002mkh.2_Silent_p.D248D|MYO1F_uc010xkf.1_3'UTR NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 248 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CGCTTCTGTCGTCCGTGCCGT 0.582 JAK3 3718 broad.mit.edu 37 19 17937673 17937673 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr19:17937673C>T uc002nhn.3 - 24 3354 c.3254G>A c.(3253-3255)CGG>CAG p.R1085Q JAK3_uc010ebh.2_Intron NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 1085 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GAATGATGGCCGGTCCTGTGG 0.632 2 Mis acute megakaryocytic leukemia| PAK4 10298 broad.mit.edu 37 19 39665625 39665625 + Missense_Mutation SNP T C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr19:39665625T>C uc002okj.1 + 7 1614 c.1153T>C c.(1153-1155)TAC>CAC p.Y385H PAK4_uc002okl.1_Missense_Mutation_p.Y385H|PAK4_uc002okn.1_Missense_Mutation_p.Y385H|PAK4_uc002okm.1_Missense_Mutation_p.Y232H|PAK4_uc002oko.1_Missense_Mutation_p.Y232H|PAK4_uc002okp.1_Missense_Mutation_p.Y295H NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 385 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) GTACAACAGCTACCTGGTGGG 0.617 ZNF8 7554 broad.mit.edu 37 19 58805490 58805490 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr19:58805490G>A uc002qry.1 + 4 446 c.316G>A c.(316-318)GCA>ACA p.A106T ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) TGAAAGCCAAGCATCACGCAA 0.542 MERTK 10461 broad.mit.edu 37 2 112785992 112785992 + Missense_Mutation SNP A G G TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr2:112785992A>G uc002thk.1 + 19 2673 c.2551A>G c.(2551-2553)AGG>GGG p.R851G MERTK_uc002thl.1_Missense_Mutation_p.R675G NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 851 Protein kinase.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TTCAGTATTGAGGCTGCAGCT 0.453 TTN 7273 broad.mit.edu 37 2 179594237 179594237 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr2:179594237C>T uc010zfg.1 - 61 15138 c.14914G>A c.(14914-14916)GTG>ATG p.V4972M TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1633M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5899 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAGCTCCACGTCACTATAT 0.448 PIKFYVE 200576 broad.mit.edu 37 2 209153464 209153464 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr2:209153464C>T uc002vcz.2 + 7 991 c.833C>T c.(832-834)CCA>CTA p.P278L PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P278L|PIKFYVE_uc002vcv.2_Missense_Mutation_p.P181L|PIKFYVE_uc002vcw.2_Missense_Mutation_p.P278L|PIKFYVE_uc002vcx.2_Missense_Mutation_p.P192L NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 278 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TTGATTCATCCAGATTCCTCA 0.343 COL4A4 1286 broad.mit.edu 37 2 227942664 227942664 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr2:227942664C>T uc010zlt.1 - 25 2587 c.1933G>A c.(1933-1935)GGA>AGA p.G645R NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 645 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTGGAACTCCTGGGTGGCCT 0.493 COL4A4 1286 broad.mit.edu 37 2 227942679 227942679 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr2:227942679C>T uc010zlt.1 - 25 2572 c.1918G>A c.(1918-1920)GAG>AAG p.E640K NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 640 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGCCTCGCTCTCCTGGTGGA 0.547 COL4A4 1286 broad.mit.edu 37 2 227942699 227942699 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr2:227942699C>T uc010zlt.1 - 25 2552 c.1898G>A c.(1897-1899)GGA>GAA p.G633E NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 633 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCAGGAAATCCCAGTCCTGG 0.602 BPI 671 broad.mit.edu 37 20 36964027 36964027 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr20:36964027C>T uc002xib.2 + 14 1438 c.1376C>T c.(1375-1377)CCG>CTG p.P459L NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 459 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) TTCCCTCTCCCGACGCCGGCC 0.557 TTPAL 79183 broad.mit.edu 37 20 43118147 43118147 + Nonsense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr20:43118147C>T uc002xmc.1 + 6 1118 c.994C>T c.(994-996)CGA>TGA p.R332* TTPAL_uc002xmd.1_Nonsense_Mutation_p.R332*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R145* NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 332 intracellular transporter activity breast(1) 1 CGACTCCTTGCGAGCTGTGAA 0.547 RIPK4 54101 broad.mit.edu 37 21 43162031 43162031 + Missense_Mutation SNP A T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr21:43162031A>T uc002yzn.1 - 8 1370 c.1322T>A c.(1321-1323)CTG>CAG p.L441Q NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 441 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CAGGTGCAGCAGGCTGGCACC 0.637 LAMP3 27074 broad.mit.edu 37 3 182871533 182871533 + Silent SNP G A A rs140803277 by1000genomes TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr3:182871533G>A uc003flh.3 - 2 920 c.696C>T c.(694-696)AAC>AAT p.N232N NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 232 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GTCTGCTTCCGTTTAGAACCT 0.502 EPHB3 2049 broad.mit.edu 37 3 184295702 184295702 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr3:184295702G>A uc003foz.2 + 8 2093 c.1656G>A c.(1654-1656)CAG>CAA p.Q552Q NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 552 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGGCCCAGCAGCTCCAGGAGC 0.637 C3orf70 285382 broad.mit.edu 37 3 184870498 184870498 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr3:184870498G>A uc003fpd.2 - 1 305 c.114C>T c.(112-114)TGC>TGT p.C38C NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 38 0 ACAGCCCGTCGCACGGCTGGA 0.642 LIAS 11019 broad.mit.edu 37 4 39462478 39462478 + Silent SNP C A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr4:39462478C>A uc003guf.2 + 2 187 c.114C>A c.(112-114)CTC>CTA p.L38L RPL9_uc003gub.2_5'Flank|RPL9_uc003guc.2_5'Flank|RPL9_uc011byk.1_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.3_Silent_p.L38L|LIAS_uc011bym.1_Silent_p.L38L|LIAS_uc003gug.2_Silent_p.L38L|LIAS_uc003guh.2_Silent_p.L38L NM_006859 NP_006850 O43766 LIAS_HUMAN lipoic acid synthetase isoform 1 precursor 38 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding 0 Lipoic Acid(DB00166) AAAAGGAACTCCTACAGAATG 0.398 FBN2 2201 broad.mit.edu 37 5 127674667 127674667 + Nonsense_Mutation SNP C A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr5:127674667C>A uc003kuu.2 - 26 3869 c.3430G>T c.(3430-3432)GAA>TAA p.E1144* FBN2_uc003kuv.2_Nonsense_Mutation_p.E1111* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1144 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATAGCCTTCGAAGCACTCG 0.507 ADAMTS19 171019 broad.mit.edu 37 5 128862027 128862027 + Nonsense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr5:128862027C>T uc003kvb.1 + 4 946 c.946C>T c.(946-948)CGA>TGA p.R316* ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 316 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAGAGGGAAACGATATTCATA 0.398 PCDHA5 56143 broad.mit.edu 37 5 140203028 140203028 + Silent SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr5:140203028C>T uc003lhl.2 + 1 1668 c.1668C>T c.(1666-1668)GAC>GAT p.D556D 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_Silent_p.D556D|PCDHA5_uc003lhj.1_Silent_p.D556D NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 556 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.706 PCDHB5 26167 broad.mit.edu 37 5 140515027 140515027 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr5:140515027C>T uc003liq.2 + 1 228 c.11C>T c.(10-12)GCG>GTG p.A4V NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 4 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGAGACTGCGCTAGCAAAA 0.458 DDX41 51428 broad.mit.edu 37 5 176941751 176941751 + Missense_Mutation SNP G C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr5:176941751G>C uc003mho.2 - 9 907 c.886C>G c.(886-888)CTC>GTC p.L296V DDX41_uc003mhm.2_Missense_Mutation_p.L76V|DDX41_uc003mhn.2_Missense_Mutation_p.L165V|DDX41_uc003mhp.2_Missense_Mutation_p.L165V|DDX41_uc003mhq.1_Missense_Mutation_p.L76V NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 296 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) CCAATGCAGAGGGCGCAGCGC 0.662 MAML1 9794 broad.mit.edu 37 5 179201198 179201198 + Missense_Mutation SNP A C C TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr5:179201198A>C uc003mkm.2 + 5 2634 c.2371A>C c.(2371-2373)ACC>CCC p.T791P MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 791 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCCAGAACACCTCCGTCTC 0.592 GTF3C6 112495 broad.mit.edu 37 6 111288823 111288823 + Missense_Mutation SNP G T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr6:111288823G>T uc003pum.2 + 6 682 c.472G>T c.(472-474)GAT>TAT p.D158Y NM_138408 NP_612417 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 158 transcription factor TFIIIC complex DNA binding|protein binding 0 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) TTCAGCCCCAGATAAATCTTT 0.383 NMBR 4829 broad.mit.edu 37 6 142409496 142409496 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr6:142409496G>A uc003qiu.2 - 1 441 c.300C>T c.(298-300)GAC>GAT p.D100D NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 100 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AGCGCGAGGCGTCCACCGGGA 0.592 HECW1 23072 broad.mit.edu 37 7 43351508 43351508 + Silent SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:43351508C>T uc003tid.1 + 4 779 c.174C>T c.(172-174)CAC>CAT p.H58H HECW1_uc011kbi.1_Silent_p.H58H|HECW1_uc003tie.1_Silent_p.H90H NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 58 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GCGGCCCCCACGATGGCGTCA 0.632 EGFR 1956 broad.mit.edu 37 7 55223543 55223543 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:55223543C>T uc003tqk.2 + 8 1156 c.910C>T c.(910-912)CAC>TAC p.H304Y EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 304 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGTGACAGATCACGGCTCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) FZD9 8326 broad.mit.edu 37 7 72849307 72849307 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:72849307G>A uc003tyb.2 + 1 1199 c.970G>A c.(970-972)GGC>AGC p.G324S NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 324 Helical; Name=3; (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CTACTACTTCGGCATGGCCAG 0.657 SEMA3E 9723 broad.mit.edu 37 7 82997104 82997104 + Missense_Mutation SNP C A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:82997104C>A uc003uhy.1 - 17 2592 c.2126G>T c.(2125-2127)TGG>TTG p.W709L NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 709 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) TTCCTTGTACCATGGTTTTGC 0.463 CYP3A5 1577 broad.mit.edu 37 7 99261679 99261679 + Missense_Mutation SNP T G G TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:99261679T>G uc003urq.2 - 8 797 c.710A>C c.(709-711)AAT>ACT p.N237T ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Missense_Mutation_p.N57T|CYP3A5_uc003urr.2_Missense_Mutation_p.N124T|CYP3A5_uc011kiy.1_Missense_Mutation_p.N227T|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 237 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) CAGAGAGACATTTAATGCTTC 0.328 ASZ1 136991 broad.mit.edu 37 7 117067470 117067470 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:117067470G>A uc003vjb.2 - 1 108 c.45C>T c.(43-45)GGC>GGT p.G15G ASZ1_uc011kno.1_Silent_p.G15G|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 15 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CGCTACTCTCGCCTCCGCCAG 0.662 OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay CHPF2 54480 broad.mit.edu 37 7 150934492 150934492 + Silent SNP C G G TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr7:150934492C>G uc003wjr.1 + 4 2557 c.1044C>G c.(1042-1044)CCC>CCG p.P348P CHPF2_uc003wjq.1_Silent_p.P340P|MIR671_hsa-mir-671|MI0003760_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 348 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 TGCTGACCCCCGAAGGGGAGG 0.602 RP1L1 94137 broad.mit.edu 37 8 10469501 10469501 + Nonsense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr8:10469501G>A uc003wtc.2 - 4 2336 c.2107C>T c.(2107-2109)CGA>TGA p.R703* NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 703 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCAGAATATCGTGGCACTGAG 0.617 BLK 640 broad.mit.edu 37 8 11406564 11406564 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr8:11406564G>A uc003wty.2 + 5 882 c.301G>A c.(301-303)GTC>ATC p.V101I BLK_uc003wtz.2_Missense_Mutation_p.V30I NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 101 SH3. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CAGGTCACTCGTCACAGGAAG 0.592 SPATC1 375686 broad.mit.edu 37 8 145095802 145095802 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr8:145095802G>A uc011lkw.1 + 3 1202 c.1100G>A c.(1099-1101)CGA>CAA p.R367Q SPATC1_uc011lkx.1_Missense_Mutation_p.R367Q NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 367 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCCCTTCCCGAATGCATAAT 0.527 PIP5KL1 138429 broad.mit.edu 37 9 130689473 130689473 + Silent SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chr9:130689473G>A uc011mao.1 - 7 654 c.609C>T c.(607-609)GTC>GTT p.V203V PIP5KL1_uc004bsu.2_5'UTR NM_001135219 NP_001128691 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 203 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding lung(1)|kidney(1) 2 CGCTCTGCATGACGATGAAGT 0.697 MAGEC3 139081 broad.mit.edu 37 X 140983301 140983301 + Missense_Mutation SNP G A A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chrX:140983301G>A uc011mwp.1 + 6 1079 c.1079G>A c.(1078-1080)CGC>CAC p.R360H MAGEC3_uc004fbs.2_Intron|MAGEC3_uc010nsj.2_5'Flank NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 360 MAGE 1. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAAGATGGCCGCCGAGGGCTG 0.607 ARHGAP4 393 broad.mit.edu 37 X 153175809 153175809 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chrX:153175809C>T uc004fjk.1 - 17 2014 c.1972G>A c.(1972-1974)GTG>ATG p.V658M ARHGAP4_uc004fjj.1_Missense_Mutation_p.V9M|ARHGAP4_uc011mzf.1_Missense_Mutation_p.V635M|ARHGAP4_uc004fjl.1_Missense_Mutation_p.V698M|ARHGAP4_uc010nup.1_Intron NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 658 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGAAGCACACGGCCAGGTTG 0.677 PCDH11Y 83259 broad.mit.edu 37 Y 4966872 4966872 + Missense_Mutation SNP C T T TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8329c910-7ccf-4e84-b468-bd6cf23327a2 6fd1c469-0a02-4317-8b70-ff886a384a28 g.chrY:4966872C>T uc004fqo.2 + 2 1987 c.1253C>T c.(1252-1254)ACG>ATG p.T418M PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 418 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 ATAACTGTGACGGATAAGGAT 0.413