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 DOCK7 85440 broad.mit.edu 37 1 62943474 62943474 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:62943474C>A uc001daq.2 - 43 5532 c.5498G>T c.(5497-5499)CGT>CTT p.R1833L DOCK7_uc001dan.2_Missense_Mutation_p.R1696L|DOCK7_uc001dao.2_Missense_Mutation_p.R1694L|DOCK7_uc001dap.2_Missense_Mutation_p.R1813L|DOCK7_uc001dam.2_Missense_Mutation_p.R1015L|DOCK7_uc010oov.1_Missense_Mutation_p.R574L|DOCK7_uc001dar.1_Missense_Mutation_p.R7L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1844 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 AAAACCAACACGAAAATAGGT 0.363 NA 30 44 1.71e-08 2.13e-08 1 0 LPAR3 23566 broad.mit.edu 37 1 85331581 85331581 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:85331581C>T uc001dkl.2 - 1 262 c.223G>A c.(223-225)GCC>ACC p.A75T LPAR3_uc009wcj.1_Missense_Mutation_p.A75T NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 75 Helical; Name=2; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 AAGAAATCGGCAGCAGCTAAA 0.423 NA 22 108 0 0 0 0 BARHL2 343472 broad.mit.edu 37 1 91180103 91180103 + Nonsense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:91180103C>T uc001dns.2 - 2 878 c.836G>A c.(835-837)TGG>TAG p.W279* NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 279 Homeobox. nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GTTCTGGTACCAGGTCTTGAC 0.547 NA 43 52 0 0 0 0 KIRREL 55243 broad.mit.edu 37 1 158047873 158047873 + Nonsense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:158047873G>T uc001frn.3 + 3 699 c.295G>T c.(295-297)GAG>TAG p.E99* KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_Nonsense_Mutation_p.E38* NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 99 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CGCCTCTTACGAGTGCCAGGC 0.627 NA 35 87 1.6e-16 2.14e-16 1 0 CRP 1401 broad.mit.edu 37 1 159683905 159683905 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:159683905A>G uc001ftw.2 - 2 189 c.85T>C c.(85-87)TTT>CTT p.F29L CRP_uc001ftx.1_Missense_Mutation_p.F29L|CRP_uc001fty.1_5'Flank NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 29 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) TCTTTGGGAAACACAAAAGCC 0.458 NA 11 78 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171505303 171505303 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:171505303C>T uc010pmg.1 + 14 2439 c.2173C>T c.(2173-2175)CCT>TCT p.P725S NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 725 Pro-rich. protein C-terminus binding 0 GCAGCCTCATCCTCAGCATTT 0.478 NA 6 15 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563768 176563768 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:176563768G>T uc001gkz.2 + 3 2192 c.1028G>T c.(1027-1029)TGC>TTC p.C343F PAPPA2_uc001gky.1_Missense_Mutation_p.C343F|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 343 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 TTCTCCCTCTGCACCGACCGC 0.577 NA 14 55 6.32e-08 7.72e-08 1 0 FAM5B 57795 broad.mit.edu 37 1 177245369 177245369 + Missense_Mutation SNP C C G rs145109858 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:177245369C>G uc001glf.2 + 6 1123 c.811C>G c.(811-813)CGC>GGC p.R271G FAM5B_uc010pna.1_Missense_Mutation_p.R21G|FAM5B_uc001glg.2_Missense_Mutation_p.R166G NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 271 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TCTGCGTGAGCGCTTTGTAGC 0.562 NA 9 61 0 0 0 0 C1orf125 126859 broad.mit.edu 37 1 179363133 179363133 + Nonsense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:179363133T>A uc001gmo.2 + 10 1086 c.959T>A c.(958-960)TTA>TAA p.L320* C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Nonsense_Mutation_p.L108*|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Nonsense_Mutation_p.L320* NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 320 Potential. 0 CAGCGCATTTTAGAAGAATTG 0.373 NA 22 52 0 0 0 0 CFHR4 10877 broad.mit.edu 37 1 196883745 196883745 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:196883745C>G uc001gto.2 + 4 629 c.560C>G c.(559-561)ACC>AGC p.T187S CFHR4_uc009wyy.2_Missense_Mutation_p.T433S|CFHR4_uc001gtp.2_Missense_Mutation_p.T434S NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 187 Sushi 3. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TATGGAAACACCACAGGTTCC 0.358 NA 7 43 0 0 0 0 ZNF281 23528 broad.mit.edu 37 1 200378334 200378334 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:200378334T>A uc001gve.2 - 2 607 c.500A>T c.(499-501)GAA>GTA p.E167V uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.E167V|ZNF281_uc001gvg.1_Missense_Mutation_p.E131V NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 167 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 ACTCCCCCCTTCACCGCCTCC 0.527 NA 10 67 0 0 0 0 KLHL12 59349 broad.mit.edu 37 1 202887471 202887471 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:202887471G>A uc001gyo.1 - 4 595 c.395C>T c.(394-396)CCT>CTT p.P132L KLHL12_uc001gyn.1_5'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.P170L|KLHL12_uc009xah.1_Missense_Mutation_p.P132L NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 132 Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAATTAGAAGGGTCCAACTG 0.448 NA 12 57 0 0 0 0 EDARADD 128178 broad.mit.edu 37 1 236590709 236590709 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:236590709A>G uc001hxu.1 + 4 243 c.178A>G c.(178-180)ATT>GTT p.I60V EDARADD_uc001hxv.1_Missense_Mutation_p.I50V NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 60 cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATGTGATACAATTACTTTGAA 0.229 NA 3 8 0 0 0 0 CHRM3 1131 broad.mit.edu 37 1 240071629 240071629 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:240071629A>G uc001hyp.2 + 5 1657 c.878A>G c.(877-879)TAC>TGC p.Y293C NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 293 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGCAGCAGTTACGAACTTCAA 0.547 NA 7 63 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240492727 240492727 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:240492727T>A uc010pyd.1 + 10 4621 c.4396T>A c.(4396-4398)TCA>ACA p.S1466T FMN2_uc010pye.1_Missense_Mutation_p.S1470T|FMN2_uc010pyf.1_Missense_Mutation_p.S112T|FMN2_uc010pyg.1_Missense_Mutation_p.S62T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1466 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGCATTTGCTCAATTCGTCG 0.408 NA 13 78 0 0 0 0 ANKRD16 54522 broad.mit.edu 37 10 5929887 5929887 + Missense_Mutation SNP A A G rs112121948 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:5929887A>G uc010qat.1 - 2 1001 c.458T>C c.(457-459)CTC>CCC p.L153P ANKRD16_uc009xie.2_Missense_Mutation_p.L153P|ANKRD16_uc009xif.2_Missense_Mutation_p.L153P|ANKRD16_uc001iiq.2_Missense_Mutation_p.L153P|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 153 ANK 4. 0 CAGGTACTGGAGGATCAGAGG 0.532 NA 13 54 0 0 0 0 ARMC4 55130 broad.mit.edu 37 10 28151364 28151364 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:28151364G>C uc009xky.2 - 18 2896 c.2798C>G c.(2797-2799)ACA>AGA p.T933R ARMC4_uc010qds.1_Missense_Mutation_p.T458R|ARMC4_uc010qdt.1_Missense_Mutation_p.T625R|ARMC4_uc001itz.2_Missense_Mutation_p.T933R NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 933 ARM 8. binding ovary(4)|skin(2) 6 GTTACTTACTGTATTTGCCAG 0.244 NA 16 36 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317109 30317109 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:30317109T>A uc001iux.2 - 2 2027 c.1968A>T c.(1966-1968)GAA>GAT p.E656D KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E518D|KIAA1462_uc009xle.1_Missense_Mutation_p.E656D NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 656 ovary(4) 4 GTCTGTCTTCTTCTGGTTCCC 0.522 NA 11 47 0 0 0 0 EGR2 1959 broad.mit.edu 37 10 64575770 64575770 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:64575770A>G uc010qim.1 - 2 174 c.20T>C c.(19-21)GTA>GCA p.V7A EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Missense_Mutation_p.V7A|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Missense_Mutation_p.V7A NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 7 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GATTTTGTCTACGGCCTTGGC 0.562 NA 72 90 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64974163 64974163 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:64974163G>C uc001jmn.2 - 8 2064 c.1764C>G c.(1762-1764)CAC>CAG p.H588Q JMJD1C_uc001jml.2_Missense_Mutation_p.H369Q|JMJD1C_uc001jmm.2_Missense_Mutation_p.H300Q|JMJD1C_uc010qiq.1_Missense_Mutation_p.H406Q|JMJD1C_uc009xpi.2_Missense_Mutation_p.H406Q|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.H300Q NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 588 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CCATGTTCAAGTGATCATTTC 0.393 NA 5 35 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95791986 95791986 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:95791986C>T uc001kjk.2 + 2 1817 c.1183C>T c.(1183-1185)CTG>TTG p.L395L PLCE1_uc010qnx.1_Silent_p.L395L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 395 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GAGCCAACGTCTGTCAGAAGC 0.408 NA 5 37 0 0 0 0 CC2D2B 387707 broad.mit.edu 37 10 97769618 97769618 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:97769618A>G uc001kll.2 + 3 257 c.58A>G c.(58-60)ATA>GTA p.I20V uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.I20V NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 20 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TCACTCATATATAAGAAAGAA 0.318 NA 4 30 0 0 0 0 ABCC2 1244 broad.mit.edu 37 10 101578649 101578649 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:101578649G>T uc001kqf.2 + 18 2513 c.2374G>T c.(2374-2376)GAT>TAT p.D792Y NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 792 Cytoplasmic (By similarity).|ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGCAGTGGATGCTCATGT 0.433 NA 30 22 4.43e-23 6.11e-23 1 0 PAX2 5076 broad.mit.edu 37 10 102584502 102584502 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:102584502G>A uc001krk.3 + 9 1636 c.1086G>A c.(1084-1086)GTG>GTA p.V362V PAX2_uc001krl.3_Silent_p.V339V|PAX2_uc001krm.3_Silent_p.V362V|PAX2_uc001kro.3_Silent_p.V339V|PAX2_uc001krn.3_Silent_p.V339V|PAX2_uc010qps.1_Silent_p.V338V|PAX2_uc001krp.1_Silent_p.V335V NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 362 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CAGGAATGGTGCCTGGTAGGT 0.617 NA 21 99 0 0 0 0 POLL 27343 broad.mit.edu 37 10 103342623 103342623 + Missense_Mutation SNP C C A rs146112511 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:103342623C>A uc001ktg.1 - 6 1857 c.1091G>T c.(1090-1092)CGC>CTC p.R364L DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37L|POLL_uc001kte.1_Missense_Mutation_p.R56L|POLL_uc001kth.1_Missense_Mutation_p.R89L|POLL_uc001kti.1_Missense_Mutation_p.R364L|POLL_uc001ktj.1_Missense_Mutation_p.R364L|POLL_uc001ktf.2_Missense_Mutation_p.R272L|POLL_uc001ktk.1_Missense_Mutation_p.R103L|POLL_uc010qqa.1_Missense_Mutation_p.R103L|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.R364L|POLL_uc001ktl.2_Missense_Mutation_p.R276L|POLL_uc010qqc.1_Missense_Mutation_p.R56L NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 364 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGCCTGGCTGCGGATGTCTTC 0.552 NA DNA_polymerases_(catalytic_subunits) 14 89 3.27e-08 4.03e-08 1 0 GBF1 8729 broad.mit.edu 37 10 104018750 104018750 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:104018750G>A uc001kux.1 + 2 295 c.55G>A c.(55-57)GCC>ACC p.A19T GBF1_uc001kuw.2_Missense_Mutation_p.A19T|GBF1_uc001kuy.1_Missense_Mutation_p.A19T|GBF1_uc001kuz.1_Missense_Mutation_p.A19T NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 19 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TGTGGTTGGGGCCATCAAACG 0.408 NA 19 138 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 117849257 117849257 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:117849257A>T uc001lcj.2 - 9 1890 c.1192T>A c.(1192-1194)TTA>ATA p.L398I GFRA1_uc001lci.2_Missense_Mutation_p.L393I|GFRA1_uc009xyr.2_Missense_Mutation_p.L393I NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 398 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) CTCACCTGTAAATTTGCACAC 0.547 NA 19 126 0 0 0 0 KCNK18 338567 broad.mit.edu 37 10 118957108 118957108 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:118957108G>T uc010qsr.1 + 1 109 c.109G>T c.(109-111)GGT>TGT p.G37C NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 37 Helical; (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CGCCCTGGTGGGTGCTGTGGT 0.597 NA 29 27 9.39e-14 1.24e-13 1 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:134218293A>C uc001lll.3 + 2 318 c.289A>C c.(289-291)ACC>CCC p.T97P PWWP2B_uc009ybe.2_Missense_Mutation_p.T97P NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 97 Pro-rich. 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756 NA 6 17 0 0 0 0 INPP5A 3632 broad.mit.edu 37 10 134464009 134464009 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:134464009G>T uc001llp.2 + 4 554 c.306G>T c.(304-306)ACG>ACT p.T102T INPP5A_uc001llo.1_Silent_p.T102T|INPP5A_uc001llq.2_Silent_p.T54T NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 102 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) AGCACTTCACGGTGAGTCCCT 0.542 NA 62 70 3.74e-36 5.27e-36 1 0 CYP2E1 1571 broad.mit.edu 37 10 135346244 135346244 + Nonsense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:135346244A>T uc001lnj.1 + 5 730 c.697A>T c.(697-699)AGA>TGA p.R233* CYP2E1_uc001lnk.1_Nonsense_Mutation_p.R96*|CYP2E1_uc009ybl.1_Nonsense_Mutation_p.R34*|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Nonsense_Mutation_p.R34* NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 233 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TGGAAGCCACAGAAAAGTCAT 0.408 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 26 174 0 0 0 0 MOB2 81532 broad.mit.edu 37 11 1491670 1491670 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:1491670C>G uc010qwz.1 - 5 729 c.539G>C c.(538-540)AGA>ACA p.R180T MOB2_uc001lto.1_Missense_Mutation_p.R64T|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Missense_Mutation_p.R143T|MOB2_uc010qwy.1_Missense_Mutation_p.R64T NM_053005 NP_443731 Q70IA6 MOB2_HUMAN HCCA2 protein 149 nucleus|perinuclear region of cytoplasm metal ion binding 0 GAACAGGTGTCTGCAGATCTT 0.587 NA 27 54 0 0 0 0 OR52E2 119678 broad.mit.edu 37 11 5080588 5080588 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:5080588G>T uc010qyw.1 - 1 270 c.270C>A c.(268-270)AAC>AAA p.N90K NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TCCCTCTGAGGTTGATCCAGA 0.483 NA 15 25 2.32e-05 2.62e-05 1 0 SLC5A12 159963 broad.mit.edu 37 11 26695058 26695058 + Missense_Mutation SNP T T G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:26695058T>G uc001mra.2 - 14 1911 c.1598A>C c.(1597-1599)GAT>GCT p.D533A SLC5A12_uc001mrb.2_RNA NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 533 Cytoplasmic (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 TGGTTGAATATCCTCACCTCT 0.373 NA 13 103 0 0 0 0 EXT2 2132 broad.mit.edu 37 11 44228424 44228424 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:44228424A>G uc001mxz.2 + 10 1911 c.1577A>G c.(1576-1578)TAT>TGT p.Y526C EXT2_uc010rfo.1_Missense_Mutation_p.Y554C|EXT2_uc001mxy.2_Missense_Mutation_p.Y539C|EXT2_uc009ykt.2_Missense_Mutation_p.Y536C|EXT2_uc001mya.2_Missense_Mutation_p.Y559C NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 526 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 TTCTTCCCTTATGATGAAATC 0.413 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 28 52 0 0 0 0 CHST1 8534 broad.mit.edu 37 11 45672189 45672189 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:45672189G>A uc001mys.1 - 4 956 c.285C>T c.(283-285)CAC>CAT p.H95H NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 95 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TGTTCTGGACGTGGTAGAGGG 0.657 NA 30 72 0 0 0 0 CREB3L1 90993 broad.mit.edu 37 11 46332681 46332681 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:46332681A>G uc001ncf.2 + 5 1129 c.694A>G c.(694-696)AGG>GGG p.R232G NM_052854 NP_443086 Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 232 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 FUS/CREB3L1(6) soft_tissue(6)|ovary(2) 8 GBM - Glioblastoma multiforme(35;0.0285) CAGCCCTGTCAGGCCCATGGC 0.667 NA T FUS myxofibrosarcoma 3 70 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47306595 47306595 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:47306595G>A uc001ner.1 + 13 2452 c.2261G>A c.(2260-2262)CGT>CAT p.R754H MADD_uc001neq.2_Missense_Mutation_p.R754H|MADD_uc001nev.1_Missense_Mutation_p.R754H|MADD_uc001nes.1_Missense_Mutation_p.R754H|MADD_uc001net.1_Missense_Mutation_p.R754H|MADD_uc009yln.1_Missense_Mutation_p.R754H|MADD_uc001neu.1_Missense_Mutation_p.R754H|MADD_uc001nex.2_Missense_Mutation_p.R754H|MADD_uc001nez.2_Missense_Mutation_p.R754H|MADD_uc001new.2_Missense_Mutation_p.R754H NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 754 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GTGGACAGACGTCAGGCAGAA 0.557 NA 6 90 0 0 0 0 CLP1 10978 broad.mit.edu 37 11 57428484 57428484 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:57428484T>C uc001nkw.2 + 3 993 c.854T>C c.(853-855)GTG>GCG p.V285A CLP1_uc010rjw.1_Missense_Mutation_p.V221A|CLP1_uc009yml.2_Missense_Mutation_p.V285A NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 285 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 TCTGGGGGTGTGGTGGAGCGC 0.512 NA 3 144 0 0 0 0 MPEG1 219972 broad.mit.edu 37 11 58979531 58979531 + Nonsense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:58979531G>A uc001nnu.3 - 1 964 c.808C>T c.(808-810)CGA>TGA p.R270* NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 270 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GAGTTGGTTCGGTTTGAGAGG 0.532 NA 4 16 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62293536 62293536 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:62293536C>A uc001ntl.2 - 5 8653 c.8353G>T c.(8353-8355)GAT>TAT p.D2785Y AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2785 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACGTCCACATCTGGACCTTCT 0.498 NA 66 135 1.32e-23 1.82e-23 1 0 MTL5 9633 broad.mit.edu 37 11 68506204 68506204 + Nonsense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:68506204G>C uc001ooc.2 - 6 1021 c.881C>G c.(880-882)TCA>TGA p.S294* MTL5_uc001ood.1_Nonsense_Mutation_p.S294*|MTL5_uc009ysi.1_3'UTR NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 294 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGGAAGAGTTGATCCCGAGGG 0.408 NA 93 174 0 0 0 0 MTL5 9633 broad.mit.edu 37 11 68506237 68506237 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:68506237G>A uc001ooc.2 - 6 988 c.848C>T c.(847-849)TCG>TTG p.S283L MTL5_uc001ood.1_Missense_Mutation_p.S283L|MTL5_uc009ysi.1_3'UTR NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 283 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GTTGACTACCGATGGTAAGGC 0.438 NA 78 157 0 0 0 0 MYEOV 26579 broad.mit.edu 37 11 69063820 69063820 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:69063820C>A uc001oov.2 + 3 1353 c.903C>A c.(901-903)CAC>CAA p.H301Q MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.H301Q|MYEOV_uc001oow.2_Missense_Mutation_p.H243Q NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 301 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) tcctccaccacctcctcctcc 0.269 NA 19 8 0.00074312 0.000812307 1 0 TRIM49 57093 broad.mit.edu 37 11 89537595 89537595 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:89537595A>G uc001pdb.2 - 3 372 c.43T>C c.(43-45)TGC>CGC p.C15R NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 15 RING-type. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CACAGGGGGCAGATGAGTTCC 0.473 NA 12 31 0 0 0 0 UBTFL1 642623 broad.mit.edu 37 11 89819398 89819398 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:89819398G>T uc010rub.1 + 1 281 c.281G>T c.(280-282)AGG>ATG p.R94M NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN upstream binding transcription factor, RNA 94 multicellular organismal development cytoplasm|nucleus DNA binding 0 CAAAAATACAGGAACGGTCCA 0.423 NA 10 9 4.69e-08 5.75e-08 1 0 FAT3 120114 broad.mit.edu 37 11 92088310 92088310 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:92088310G>T uc001pdj.3 + 1 3049 c.3032G>T c.(3031-3033)CGG>CTG p.R1011L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1011 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTACTGTGCGGGCCAAAGAC 0.453 NA TCGA Ovarian(4;0.039) 12 24 5.51e-06 6.36e-06 1 0 FAT3 120114 broad.mit.edu 37 11 92523307 92523307 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:92523307G>T uc001pdj.3 + 7 4551 c.4534G>T c.(4534-4536)GAC>TAC p.D1512Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1512 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCCGGATTGACCCTAGCAC 0.488 NA TCGA Ovarian(4;0.039) 20 107 2.38e-13 3.11e-13 1 0 FAT3 120114 broad.mit.edu 37 11 92573756 92573756 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:92573756T>C uc001pdj.3 + 17 10414 c.10397T>C c.(10396-10398)TTG>TCG p.L3466S FAT3_uc001pdi.3_5'UTR NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3466 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCAGCATCTTGCAGCTGGTG 0.388 NA TCGA Ovarian(4;0.039) 12 28 0 0 0 0 OR6M1 390261 broad.mit.edu 37 11 123676665 123676665 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:123676665C>A uc010rzz.1 - 1 393 c.393G>T c.(391-393)ACG>ACT p.T131T NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCATGATGACCGTGTAGTGCA 0.517 NA 19 20 1.64e-05 1.87e-05 1 0 CD163L1 283316 broad.mit.edu 37 12 7556294 7556294 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:7556294G>A uc001qsy.2 - 6 1271 c.1245C>T c.(1243-1245)AGC>AGT p.S415S CD163L1_uc010sge.1_Silent_p.S425S NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 415 SRCR 4.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TGCCAAAGACGCTGAACGGAC 0.458 NA 42 128 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9317736 9317736 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:9317736C>A uc001qvl.2 - 19 2515 c.2486G>T c.(2485-2487)CGG>CTG p.R829L PZP_uc009zgl.2_Missense_Mutation_p.R698L|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.R161L NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTTCCTTACCCGGATGCATTT 0.463 NA 17 71 5.35e-07 6.43e-07 1 0 PRB3 5544 broad.mit.edu 37 12 11420652 11420652 + Silent SNP C C T rs74786167 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:11420652C>T uc001qzs.2 - 3 569 c.531G>A c.(529-531)CCG>CCA p.P177P PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 177 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|6. Missing (in allele S). extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) CCGGATGAGGCGGGGGACCTT 0.642 NA 7 186 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15637161 15637161 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:15637161G>T uc001rcv.1 + 2 503 c.329G>T c.(328-330)AGA>ATA p.R110I PTPRO_uc001rcw.1_Missense_Mutation_p.R110I|PTPRO_uc001rcu.1_Missense_Mutation_p.R110I NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 110 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) AAGCCATCCAGATCAATCACT 0.413 NA 10 38 7.48e-07 8.95e-07 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21030851 21030851 + Silent SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:21030851T>A uc001rek.2 + 9 1242 c.1116T>A c.(1114-1116)TCT>TCA p.S372S SLCO1B3_uc001rel.2_Silent_p.S372S|SLCO1B3_uc010sil.1_Silent_p.S372S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.S197S NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 372 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AGTCTGCATCTCATGCTAACT 0.328 NA 17 53 0 0 0 0 IFLTD1 160492 broad.mit.edu 37 12 25672821 25672821 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:25672821C>A uc001rgs.2 - 6 1074 c.924G>T c.(922-924)CAG>CAT p.Q308H IFLTD1_uc001rgt.1_Missense_Mutation_p.Q211H|IFLTD1_uc010sji.1_Missense_Mutation_p.Q329H|IFLTD1_uc010sjj.1_Missense_Mutation_p.Q245H|IFLTD1_uc009zjc.2_Missense_Mutation_p.Q289H NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 308 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) CTTGTTCCACCTGATAATTTG 0.388 NA 6 32 1.07e-07 1.3e-07 1 0 OVCH1 341350 broad.mit.edu 37 12 29597152 29597152 + Silent SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:29597152A>G uc001rix.1 - 24 2943 c.2943T>C c.(2941-2943)CCT>CCC p.P981P NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 981 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CATCCTCACAAGGGACCAAGT 0.403 NA 3 178 0 0 0 0 CNTN1 1272 broad.mit.edu 37 12 41312540 41312540 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:41312540G>T uc001rmm.1 + 4 307 c.194G>T c.(193-195)TGT>TTT p.C65F CNTN1_uc009zjy.1_Missense_Mutation_p.C65F|CNTN1_uc001rmn.1_Missense_Mutation_p.C54F|CNTN1_uc001rmo.2_Missense_Mutation_p.C65F NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 65 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCACTCAACTGTAGGGCACGA 0.438 NA 8 60 3.1e-07 3.74e-07 1 0 IRAK4 51135 broad.mit.edu 37 12 44180289 44180289 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:44180289G>A uc001rnu.3 + 12 1406 c.1276G>A c.(1276-1278)GTT>ATT p.V426I IRAK4_uc001rnt.3_Missense_Mutation_p.V426I|IRAK4_uc001rnx.3_Missense_Mutation_p.V302I|IRAK4_uc001rny.3_Missense_Mutation_p.V302I|IRAK4_uc010sky.1_Missense_Mutation_p.V302I|IRAK4_uc001rnv.3_Missense_Mutation_p.V302I|IRAK4_uc001rnw.3_Missense_Mutation_p.V302I NM_001114182 NP_001107654 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 426 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TTCCACTTCAGTTGAAGCTAT 0.284 NA 16 87 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52056869 52056869 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:52056869A>T uc001ryw.2 + 2 446 c.268A>T c.(268-270)ACG>TCG p.T90S NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 90 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATACTATTTGACGCAGAAAGT 0.527 NA 51 92 0 0 0 0 MBD6 114785 broad.mit.edu 37 12 57918502 57918502 + Splice_Site SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:57918502G>A uc001soj.1 + 4 338 c.114_splice c.e4-1 p.S38_splice MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 TCCTCTCGCAGTCCAAGTGGC 0.542 NA 39 47 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 72956711 72956711 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:72956711A>G uc001sxa.2 + 9 1828 c.1798A>G c.(1798-1800)ATC>GTC p.I600V NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 600 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTATCCTGTTATCACCATCTT 0.328 NA 9 70 0 0 0 0 KCNC2 3747 broad.mit.edu 37 12 75601187 75601187 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:75601187C>G uc001sxg.1 - 2 1121 c.577G>C c.(577-579)GAG>CAG p.E193Q KCNC2_uc009zry.2_Missense_Mutation_p.E193Q|KCNC2_uc001sxe.2_Missense_Mutation_p.E193Q|KCNC2_uc001sxf.2_Missense_Mutation_p.E193Q|KCNC2_uc010stw.1_Missense_Mutation_p.E193Q NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 193 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity p.E193D(1) breast(2)|pancreas(2)|skin(1)|lung(1) 6 GCCGCGTCCTCGATGCCCAGC 0.721 NA 4 22 0 0 0 0 GLIPR1 11010 broad.mit.edu 37 12 75892486 75892486 + Missense_Mutation SNP G G A rs3736392 by1000genomes TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:75892486G>A uc001sxs.2 + 5 780 c.632G>A c.(631-633)CGA>CAA p.R211Q GLIPR1_uc009zsb.1_Missense_Mutation_p.E235K|KRR1_uc001sxt.2_3'UTR|KRR1_uc009zsc.2_3'UTR NM_006851 NP_006842 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 precursor 211 cellular lipid metabolic process extracellular region|integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 AACCGACAGCGAGACCAAGTC 0.323 NA 11 34 0 0 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80226236 80226236 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:80226236G>A uc001syz.2 - 4 790 c.523C>T c.(523-525)CGG>TGG p.R175W PPP1R12A_uc010suc.1_Missense_Mutation_p.R88W|PPP1R12A_uc001sza.2_Missense_Mutation_p.R175W|PPP1R12A_uc010sud.1_Missense_Mutation_p.R175W|PPP1R12A_uc001szb.2_Missense_Mutation_p.R175W|PPP1R12A_uc001szc.2_Missense_Mutation_p.R175W NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 175 contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 AGCATGATCCGTTCTTCTTCC 0.388 NA 21 114 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81472018 81472018 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:81472018C>T uc001szl.1 + 1 210 c.119C>T c.(118-120)CCG>CTG p.P40L ACSS3_uc001szm.1_Missense_Mutation_p.P40L NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 40 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TTAGTGGTCCCGGGCCCGCGG 0.731 NA 3 19 0 0 0 0 TMTC2 160335 broad.mit.edu 37 12 83250841 83250841 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:83250841A>G uc001szt.2 + 2 568 c.136A>G c.(136-138)ATT>GTT p.I46V TMTC2_uc001szr.1_Missense_Mutation_p.I46V|TMTC2_uc001szs.1_Missense_Mutation_p.I46V|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 46 endoplasmic reticulum|integral to membrane binding ovary(2) 2 ATGGACGCACATTTTCTACAA 0.428 NA 61 117 0 0 0 0 APAF1 317 broad.mit.edu 37 12 99056319 99056319 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:99056319G>T uc001tfz.2 + 6 1373 c.796G>T c.(796-798)GAC>TAC p.D266Y APAF1_uc001tfy.2_Missense_Mutation_p.D255Y|APAF1_uc001tga.2_Missense_Mutation_p.D255Y|APAF1_uc001tgb.2_Missense_Mutation_p.D266Y|APAF1_uc001tgc.2_Missense_Mutation_p.D266Y NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 266 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TACAACCAGAGACAAGAGTGT 0.308 NA 17 25 2.49e-13 3.25e-13 1 0 ANO4 121601 broad.mit.edu 37 12 101381432 101381432 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:101381432C>A uc010svm.1 + 8 1290 c.718C>A c.(718-720)CAG>AAG p.Q240K ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.Q205K|ANO4_uc001thx.2_Missense_Mutation_p.Q240K NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 240 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CCCTTTCAGCCAGCAAAGGAT 0.527 NA HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 142 8.17e-17 1.09e-16 1 0 CCDC92 80212 broad.mit.edu 37 12 124421993 124421993 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:124421993C>T uc001ufw.1 - 5 755 c.608G>A c.(607-609)CGC>CAC p.R203H CCDC92_uc001ufv.1_Missense_Mutation_p.R186H|CCDC92_uc001ufx.1_Missense_Mutation_p.R203H|CCDC92_uc001ufy.1_Missense_Mutation_p.R186H NM_025140 NP_079416 Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 203 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CATGCGGCGGCGAGGCGTTTC 0.612 NA 33 51 0 0 0 0 N6AMT2 221143 broad.mit.edu 37 13 21311925 21311925 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:21311925T>C uc001uno.1 - 3 245 c.164A>G c.(163-165)TAT>TGT p.Y55C N6AMT2_uc009zzr.1_Missense_Mutation_p.Y55C|N6AMT2_uc001unp.2_Intron NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 55 methyltransferase activity|nucleic acid binding 0 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTCCTGACTATACCAAAACTG 0.393 NA 13 16 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28931821 28931821 + Silent SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:28931821T>A uc001usb.3 - 15 2403 c.2118A>T c.(2116-2118)GGA>GGT p.G706G NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 706 Ig-like C2-type 7.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTAAAATAATTCCTGAGGGGT 0.443 NA 64 50 0 0 0 0 SIAH3 283514 broad.mit.edu 37 13 46357673 46357673 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:46357673G>A uc001vap.2 - 2 737 c.655C>T c.(655-657)CGG>TGG p.R219W NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 219 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 AGAACAGACCGGGGCGTGGCC 0.617 NA 22 26 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329467 88329467 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:88329467G>A uc001vln.2 + 2 2043 c.1824G>A c.(1822-1824)TCG>TCA p.S608S SLITRK5_uc010tic.1_Silent_p.S367S NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 608 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCATTAAGTCGGAGCTGCTGT 0.582 NA 23 154 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101997697 101997697 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:101997697G>T uc001vox.1 - 7 908 c.719C>A c.(718-720)CCA>CAA p.P240Q NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P240Q|NALCN_uc001vpa.2_Missense_Mutation_p.P240Q NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 240 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAATCCAGGTGGGCACTGGTA 0.448 NA 51 42 5.14e-22 7.04e-22 1 0 IRS2 8660 broad.mit.edu 37 13 110436062 110436062 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:110436062G>A uc001vqv.2 - 1 2853 c.2339C>T c.(2338-2340)CCG>CTG p.P780L NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 780 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GAAGTCGGGCGGGGTGCCCGT 0.692 NA 7 3 0 0 0 0 METT11D1 64745 broad.mit.edu 37 14 21464756 21464757 + Missense_Mutation DNP GC GC AT TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:21464756_21464757GC>AT uc001vyn.2 + 13 1348_1349 c.1151_1152GC>AT c.(1150-1152)CGC>CAT p.R384H METT11D1_uc001vym.2_Missense_Mutation_p.R384H|METT11D1_uc001vyo.2_Missense_Mutation_p.R384H|METT11D1_uc001vyp.2_Missense_Mutation_p.R226H|METT11D1_uc001vyq.2_Missense_Mutation_p.R226H|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 384 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) GAGGCTCATCGCTGGCCCCGTA 0.515 NA 16 28 0 0 0 0 JPH4 84502 broad.mit.edu 37 14 24045142 24045142 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:24045142G>A uc001wkq.2 - 4 1821 c.903C>T c.(901-903)AAC>AAT p.N301N JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Silent_p.N301N|JPH4_uc001wks.2_Silent_p.N301N NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 301 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) AGCGCAGCCCGTTGGAGCGCT 0.677 NA 5 25 0 0 0 0 C14orf21 161424 broad.mit.edu 37 14 24769788 24769788 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:24769788G>C uc001wol.1 + 2 485 c.422G>C c.(421-423)TGC>TCC p.C141S C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 141 RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) TGTCACCGATGCGGGGTCCAT 0.483 NA 48 128 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 33684540 33684540 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:33684540T>A uc001wru.2 + 3 357 c.293T>A c.(292-294)ATT>AAT p.I98N NPAS3_uc001wrs.2_Missense_Mutation_p.I68N|NPAS3_uc001wrt.2_Missense_Mutation_p.I68N|NPAS3_uc001wrv.2_Missense_Mutation_p.I68N|NPAS3_uc001wrw.2_5'UTR NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 98 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGACTTACAATTAGCTATCTG 0.463 NA 34 66 0 0 0 0 LRFN5 145581 broad.mit.edu 37 14 42360587 42360587 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:42360587A>G uc001wvm.2 + 4 2718 c.1520A>G c.(1519-1521)CAG>CGG p.Q507R LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 507 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGTTGCATCCAGTTTACTACG 0.433 NA HNSCC(30;0.082) 25 95 0 0 0 0 GPR137C 283554 broad.mit.edu 37 14 53020234 53020234 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:53020234C>A uc001wzu.3 + 1 369 c.369C>A c.(367-369)CCC>CCA p.P123P TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Silent_p.P123P NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 123 Helical; (Potential). integral to membrane 0 Breast(41;0.0716) ACTTCTTCCCCCACTGGCTGC 0.652 NA 12 56 7.04e-09 8.79e-09 1 0 PSMC6 5706 broad.mit.edu 37 14 53173987 53173987 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:53173987T>C uc010tqx.1 + 1 92 c.92T>C c.(91-93)CTT>CCT p.L31P PSMC6_uc010tqv.1_Missense_Mutation_p.L31P|PSMC6_uc010tqw.1_Silent_p.L24L NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 17 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) AAGAAGTTGCTTGAACACAAG 0.537 NA 7 30 0 0 0 0 RIN3 79890 broad.mit.edu 37 14 93118018 93118018 + Silent SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:93118018C>G uc001yap.2 + 6 776 c.624C>G c.(622-624)TCC>TCG p.S208S RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.S133S|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 208 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CCCTAGTCTCCAGCCTCAGGC 0.572 NA 17 65 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24923749 24923749 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:24923749G>T uc001ywo.2 + 1 3209 c.2735G>T c.(2734-2736)AGT>ATT p.S912I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 912 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AAGTCTGACAGTTCTTTTATT 0.488 NA 42 114 1.07e-22 1.47e-22 1 0 ATP10A 57194 broad.mit.edu 37 15 25940059 25940059 + Missense_Mutation SNP G G A rs147432497 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:25940059G>A uc010ayu.2 - 14 3101 c.2995C>T c.(2995-2997)CGC>TGC p.R999C NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 999 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGGACGGAGCGGCACTGCTTG 0.597 NA 12 42 0 0 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32921915 32921915 + Nonsense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:32921915G>T uc001zgy.1 + 8 1779 c.1057G>T c.(1057-1059)GAG>TAG p.E353* ARHGAP11A_uc010ubw.1_Nonsense_Mutation_p.E164*|ARHGAP11A_uc001zgw.2_Nonsense_Mutation_p.E353*|ARHGAP11A_uc001zgx.2_Nonsense_Mutation_p.E353*|ARHGAP11A_uc010ubx.1_Nonsense_Mutation_p.E164* NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 353 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TTTTAACTTTGAGCTGTTGCC 0.353 NA 11 33 1.09e-07 1.32e-07 1 0 THBS1 7057 broad.mit.edu 37 15 39886511 39886511 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:39886511G>T uc001zkh.2 + 21 3554 c.3375G>T c.(3373-3375)ATG>ATT p.M1125I THBS1_uc010bbi.2_Missense_Mutation_p.M597I NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 1125 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GAGTGGTGATGTATGAAGGGA 0.388 NA 23 40 1.87e-06 2.2e-06 1 0 DLL4 54567 broad.mit.edu 37 15 41228746 41228746 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:41228746G>A uc001zng.1 + 9 1881 c.1561G>A c.(1561-1563)GTG>ATG p.V521M NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 521 Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CGAGTTCCCCGTGGGCTTGCC 0.652 NA 7 13 0 0 0 0 LTK 4058 broad.mit.edu 37 15 41804997 41804997 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:41804997C>T uc001zoa.3 - 3 445 c.267G>A c.(265-267)GCG>GCA p.A89A LTK_uc001zob.3_Silent_p.A89A|LTK_uc010ucx.1_Silent_p.A89A|LTK_uc010bcg.2_Intron NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 89 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TCCCCGCGTACGCCCCGTCAC 0.692 NA TSP Lung(18;0.14) 5 26 0 0 0 0 ADAL 161823 broad.mit.edu 37 15 43638089 43638089 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:43638089G>A uc010udo.1 + 9 1037 c.463G>A c.(463-465)GTA>ATA p.V155I ADAL_uc001zrh.2_Missense_Mutation_p.V155I|ADAL_uc001zri.1_Missense_Mutation_p.V40I NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 155 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) TGGCCCTTTAGTAGCCAAGGA 0.408 NA 28 49 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44890998 44890998 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:44890998C>A uc001ztx.2 - 22 3754 c.3723G>T c.(3721-3723)GGG>GGT p.G1241G SPG11_uc010ueh.1_Silent_p.G1241G|SPG11_uc010uei.1_Silent_p.G1241G|SPG11_uc001zty.1_5'UTR NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1241 Helical; (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGGAGGAGAGCCCTATAACAT 0.418 NA 18 37 3.41e-10 4.38e-10 1 0 HERC1 8925 broad.mit.edu 37 15 63986610 63986610 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:63986610T>A uc002amp.2 - 29 5529 c.5381A>T c.(5380-5382)CAG>CTG p.Q1794L NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1794 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CTGCAGGGGCTGTCCTAGCAT 0.473 NA 18 40 0 0 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667661 65667661 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:65667661C>A uc002aos.2 - 2 435 c.183G>T c.(181-183)CTG>CTT p.L61L NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 61 Extracellular (Potential).|Ig-like C2-type 1. ovary(3) 3 CCCTGCAGTCCAGCACTATAG 0.592 NA 9 28 3.07e-06 3.57e-06 1 0 MAP2K5 5607 broad.mit.edu 37 15 67873104 67873104 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:67873104G>T uc002aqu.2 + 4 918 c.265G>T c.(265-267)GTA>TTA p.V89L MAP2K5_uc002aqt.1_Missense_Mutation_p.V89L|MAP2K5_uc002aqv.2_Missense_Mutation_p.V89L|MAP2K5_uc010ujw.1_Missense_Mutation_p.V53L NM_145160 NP_660143 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 89 OPR. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2) 2 TTATTCCACAGTAATGGAACA 0.333 NA 22 54 4.48e-21 6.1e-21 1 0 ARNT2 9915 broad.mit.edu 37 15 80867386 80867386 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:80867386C>T uc002bfr.2 + 14 1614 c.1448C>T c.(1447-1449)GCG>GTG p.A483V ARNT2_uc010unm.1_Missense_Mutation_p.A472V|ARNT2_uc002bfs.2_Missense_Mutation_p.A472V NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 483 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GTGGAAAAGGCGGATGCAATC 0.473 NA 5 131 0 0 0 0 SH3GL3 6457 broad.mit.edu 37 15 84255793 84255793 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:84255793A>T uc002bjw.2 + 7 878 c.683A>T c.(682-684)CAG>CTG p.Q228L SH3GL3_uc010uot.1_Missense_Mutation_p.Q228L|SH3GL3_uc002bjx.2_Missense_Mutation_p.Q159L|SH3GL3_uc002bju.2_Missense_Mutation_p.Q236L|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 228 BAR.|Interaction with ARC (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 TATCACAGACAGTCCACAGAG 0.502 NA 5 17 0 0 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84506852 84506852 + Nonsense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:84506852C>A uc002bjz.3 + 7 836 c.612C>A c.(610-612)TGC>TGA p.C204* ADAMTSL3_uc002bjy.1_Nonsense_Mutation_p.C204*|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.C204*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.C204* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 204 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CAGTGGGCTGCGATCGGCAAC 0.567 NA 15 62 3.27e-08 4.03e-08 1 0 AXIN1 8312 broad.mit.edu 37 16 339603 339603 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:339603T>C uc002cgp.1 - 10 2476 c.2299A>G c.(2299-2301)AGA>GGA p.R767G AXIN1_uc002cgq.1_Missense_Mutation_p.R731G NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 767 Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTCTGCGATCTTGTCCTGGGG 0.637 NA 8 28 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818367 1818367 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:1818367G>T uc002cmk.2 + 30 3847 c.3727G>T c.(3727-3729)GTC>TTC p.V1243F MAPK8IP3_uc002cml.2_Missense_Mutation_p.V1237F|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V1244F NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1243 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GAAGTTCTTTGTCTCGGTGCC 0.652 NA 27 60 1.55e-18 2.1e-18 1 0 E4F1 1877 broad.mit.edu 37 16 2273689 2273689 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:2273689G>A uc002cpm.2 + 1 123 c.75G>A c.(73-75)GCG>GCA p.A25A E4F1_uc010bsi.2_Silent_p.A25A|E4F1_uc010bsj.2_Silent_p.A25A NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 25 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GGCGGGAAGCGGGCGAGGGTG 0.741 NA 4 18 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2333222 2333222 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:2333222C>A uc002cpy.1 - 26 4712 c.4000G>T c.(4000-4002)GGC>TGC p.G1334C ABCA3_uc010bsk.1_Missense_Mutation_p.G1276C NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1334 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CAGAGGATGCCCCTGAGTCTC 0.672 NA 23 39 3.88e-16 5.17e-16 1 0 SRL 6345 broad.mit.edu 37 16 4242554 4242554 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:4242554C>G uc002cvz.3 - 6 1035 c.1022G>C c.(1021-1023)CGC>CCC p.R341P SRL_uc002cvy.3_RNA NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN sarcalumenin 800 sarcoplasmic reticulum lumen GTP binding|GTPase activity ovary(3)|skin(2) 5 GGCGTGGATGCGGACCCGGAT 0.512 NA 45 138 0 0 0 0 FAM86A 196483 broad.mit.edu 37 16 5143491 5143491 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:5143491G>T uc002cyo.2 - 3 283 c.234C>A c.(232-234)ATC>ATA p.I78I FAM86A_uc002cyp.2_Silent_p.I78I NM_201400 NP_958802 Q96G04 FA86A_HUMAN hypothetical protein LOC196483 isoform 1 78 0 TGACCTTTTTGATGAGTTCTG 0.458 NA 9 43 2.74e-10 3.53e-10 1 0 RBBP6 5930 broad.mit.edu 37 16 24567192 24567192 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:24567192G>A uc002dmh.2 + 6 1528 c.488G>A c.(487-489)CGT>CAT p.R163H RBBP6_uc010vcb.1_Missense_Mutation_p.R30H|RBBP6_uc002dmi.2_Missense_Mutation_p.R163H|RBBP6_uc010bxr.2_Missense_Mutation_p.R163H|RBBP6_uc002dmk.2_Missense_Mutation_p.R30H NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 163 CCHC-type. protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) ACGTGTTTCCGTTGTGGTAAA 0.358 NA 10 19 0 0 0 0 CDIPT 10423 broad.mit.edu 37 16 29872572 29872572 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:29872572A>T uc002dum.2 - 3 587 c.187T>A c.(187-189)TTT>ATT p.F63I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_Missense_Mutation_p.F87I|CDIPT_uc002dul.2_Missense_Mutation_p.F35I|CDIPT_uc002dun.2_Missense_Mutation_p.F18I|LOC440356_uc010veb.1_5'Flank|LOC440356_uc002duo.2_5'Flank NM_006319 NP_006310 O14735 CDIPT_HUMAN CDP-diacylglycerol-inositol 63 endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity 0 ATGGCCCCAAACCGGGTTCCT 0.562 NA 10 25 0 0 0 0 ITGAL 3683 broad.mit.edu 37 16 30490651 30490651 + Splice_Site SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:30490651G>A uc002dyi.3 + 6 622 c.446_splice c.e6-1 p.E149_splice ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) GGCTTCTGCAGAATGTATCAA 0.473 NA 23 40 0 0 0 0 NLRC5 84166 broad.mit.edu 37 16 57067576 57067576 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:57067576G>A uc002ekk.1 + 12 2763 c.2538G>A c.(2536-2538)ACG>ACA p.T846T NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.T595T|NLRC5_uc002ekl.2_Silent_p.T651T|NLRC5_uc002ekm.2_Silent_p.T651T|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 846 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) GAAGCTTGACGCTCAGGTACC 0.547 NA 21 54 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75512874 75512874 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:75512874G>A uc002fef.2 - 3 1033 c.853C>T c.(853-855)CGT>TGT p.R285C CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R285C NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 285 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TAGAGCGCACGGATTTCTGCC 0.677 NA 6 85 0 0 0 0 HSDL1 83693 broad.mit.edu 37 16 84163848 84163848 + Nonsense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:84163848G>A uc002fhk.2 - 4 593 c.409C>T c.(409-411)CGA>TGA p.R137* HSDL1_uc010vnv.1_Intron NM_031463 NP_113651 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 isoform a 137 mitochondrion oxidoreductase activity|protein binding 0 AGGGCTTCTCGAATTGGAAGG 0.473 NA 8 151 0 0 0 0 VPS53 55275 broad.mit.edu 37 17 465756 465756 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:465756C>A uc002frn.2 - 14 1690 c.1543G>T c.(1543-1545)GGC>TGC p.G515C VPS53_uc002frk.2_Missense_Mutation_p.G34C|VPS53_uc010cjo.1_Missense_Mutation_p.G515C|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.G486C|VPS53_uc002fro.2_Missense_Mutation_p.G317C|VPS53_uc010cjp.1_Missense_Mutation_p.G238C NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 515 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GGCAGGTTGCCAGAGAGGATT 0.478 NA 22 59 1.85e-09 2.33e-09 1 0 ZZEF1 23140 broad.mit.edu 37 17 3926063 3926063 + Silent SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:3926063C>G uc002fxe.2 - 44 7216 c.7152G>C c.(7150-7152)CTG>CTC p.L2384L ZZEF1_uc002fxh.2_Silent_p.L698L|ZZEF1_uc002fxi.2_Silent_p.L619L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2384 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACTTTTTCACCAGCAACTTCA 0.498 NA 15 44 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:7577046C>A uc002gim.2 - 8 1086 c.892G>T c.(892-894)GAG>TAG p.E298* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 298 Interaction with HIPK1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGCAGCTCGTGGTGAGGC 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 54 3.65e-15 4.85e-15 1 0 MYH13 8735 broad.mit.edu 37 17 10263357 10263357 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:10263357T>C uc002gmk.1 - 7 655 c.565A>G c.(565-567)ACC>GCC p.T189A NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 189 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACACGCTTGGTGTTCACAGTC 0.512 NA 15 57 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10535187 10535187 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:10535187T>A uc002gmq.1 - 34 5180 c.5103A>T c.(5101-5103)AAA>AAT p.K1701N NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1701 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GTTCCGCCAGTTTCCGGGCCC 0.637 NA 10 61 0 0 0 0 ELAC2 60528 broad.mit.edu 37 17 12905653 12905653 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:12905653C>A uc002gnz.3 - 14 1337 c.1242G>T c.(1240-1242)GTG>GTT p.V414V ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Silent_p.V42V|ELAC2_uc002gnw.3_Silent_p.V72V|ELAC2_uc002gnx.3_Silent_p.V174V|ELAC2_uc010vvo.1_Silent_p.V212V|ELAC2_uc010vvp.1_Silent_p.V395V|ELAC2_uc010vvq.1_Silent_p.V413V|ELAC2_uc010vvr.1_Silent_p.V374V NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 414 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 GAACCATGGGCACACTGAGGG 0.562 NA Hereditary_Prostate_Cancer 21 54 1.28e-07 1.55e-07 1 0 MYO18A 399687 broad.mit.edu 37 17 27447762 27447762 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:27447762C>T uc002hdt.1 - 7 1758 c.1600G>A c.(1600-1602)GCT>ACT p.A534T MYO18A_uc010wbc.1_Missense_Mutation_p.A76T|MYO18A_uc002hds.2_Missense_Mutation_p.A76T|MYO18A_uc010csa.1_Missense_Mutation_p.A534T|MYO18A_uc002hdu.1_Missense_Mutation_p.A534T|MYO18A_uc010wbd.1_Missense_Mutation_p.A203T NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 534 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GTGTACAGAGCCTGCCACTTC 0.567 NA 25 49 0 0 0 0 KRT28 162605 broad.mit.edu 37 17 38948796 38948796 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:38948796C>A uc002hvh.1 - 8 1344 c.1278G>T c.(1276-1278)AAG>AAT p.K426N NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 426 Tail. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CAACCACTGTCTTTACCAGTG 0.348 NA 10 25 3.86e-05 4.33e-05 1 0 CDK5RAP3 80279 broad.mit.edu 37 17 46051295 46051295 + Splice_Site SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:46051295A>G uc002imr.2 + 4 269 c.185_splice c.e4-2 p.Y62_splice CDK5RAP3_uc010wlc.1_Splice_Site_p.Y82_splice|CDK5RAP3_uc002imq.1_Splice_Site|CDK5RAP3_uc002imu.2_Splice_Site|CDK5RAP3_uc002ims.2_Splice_Site|CDK5RAP3_uc002imv.2_Splice_Site|CDK5RAP3_uc002imw.2_Splice_Site|CDK5RAP3_uc002imx.2_Splice_Site NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 CTTGCTTTCTAGACATTCACT 0.443 NA 35 115 0 0 0 0 SDK2 54549 broad.mit.edu 37 17 71390387 71390387 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:71390387G>A uc010dfm.2 - 26 3669 c.3669C>T c.(3667-3669)GTC>GTT p.V1223V SDK2_uc002jjt.3_Silent_p.V382V|SDK2_uc010dfn.2_Silent_p.V902V NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1223 Fibronectin type-III 7.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CAGCCTCGGGGACCTCGCTCC 0.652 NA 5 19 0 0 0 0 MGAT5B 146664 broad.mit.edu 37 17 74901400 74901400 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:74901400G>T uc002jti.2 + 6 976 c.873G>T c.(871-873)CAG>CAT p.Q291H MGAT5B_uc002jth.2_Missense_Mutation_p.Q280H NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 280 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GGGCCACCCAGAGGGACCAGA 0.627 NA 12 35 5.17e-11 6.7e-11 1 0 CIDEA 1149 broad.mit.edu 37 18 12262964 12262964 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:12262964G>T uc002kqt.3 + 2 244 c.179G>T c.(178-180)AGC>ATC p.S60I CIDEA_uc002kqu.3_Missense_Mutation_p.S94I|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 60 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 GAGCTCATCAGCAAGGTGCCC 0.642 NA 8 26 0.00307968 0.00333764 1 0 MC2R 4158 broad.mit.edu 37 18 13884633 13884633 + Missense_Mutation SNP C C G rs147683219 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:13884633C>G uc002ksp.1 - 2 1062 c.885G>C c.(883-885)AGG>AGC p.R295S NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 295 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) TCTACCAGTACCTGCTGCAGA 0.478 NA 18 57 0 0 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559713 44559713 + Missense_Mutation SNP C C T rs143582553 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:44559713C>T uc002lcr.1 - 1 2276 c.1923G>A c.(1921-1923)ATG>ATA p.M641I KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 641 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 TGAAACAGATCATCTTTGCCT 0.537 NA 68 80 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50450075 50450075 + Splice_Site SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:50450075A>G uc002lfe.1 + 4 1285 c.698_splice c.e4-2 p.D233_splice DCC_uc010xdr.1_Splice_Site_p.D81_splice NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTCCCCTCATAGATCCAGGAC 0.343 NA 14 18 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9062563 9062563 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:9062563G>A uc002mkp.2 - 3 25087 c.24883C>T c.(24883-24885)CCT>TCT p.P8295S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8297 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAGTCACAGGAAGAGAAGCG 0.512 NA 22 50 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9086084 9086084 + Nonsense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:9086084G>A uc002mkp.2 - 1 5935 c.5731C>T c.(5731-5733)CGA>TGA p.R1911* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1911 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCTCAGGTCGGGGATGGATT 0.488 NA 11 27 0 0 0 0 OR7G2 390882 broad.mit.edu 37 19 9213532 9213532 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:9213532G>T uc010xkk.1 - 1 451 c.451C>A c.(451-453)CTT>ATT p.L151I NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTGTATCTAAGGGGGTGACAA 0.498 NA 15 28 1.05e-09 1.33e-09 1 0 ZNF563 147837 broad.mit.edu 37 19 12433432 12433432 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:12433432T>C uc002mtp.2 - 2 335 c.97A>G c.(97-99)ATG>GTG p.M33V ZNF563_uc002mtq.2_Missense_Mutation_p.M33V NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTTCTTGCATCACATATCTG 0.433 NA 24 49 0 0 0 0 MEF2B 100271849 broad.mit.edu 37 19 19258514 19258514 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:19258514C>A uc002nlm.2 - 4 500 c.386G>T c.(385-387)CGG>CTG p.R129L MEF2B_uc002nln.2_Missense_Mutation_p.R176L|MEF2B_uc002nll.2_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.R129L|MEF2B_uc002nlk.2_Missense_Mutation_p.R132L NM_001145785 NP_001139257 myocyte enhancer factor 2B isoform a skin(1) 1 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) TACATACAGCCGGGGTCGGGG 0.577 NA 19 45 8.34e-07 9.92e-07 1 0 RYR1 6261 broad.mit.edu 37 19 38976617 38976617 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:38976617G>A uc002oit.2 + 34 5452 c.5322G>A c.(5320-5322)CCG>CCA p.P1774P RYR1_uc002oiu.2_Silent_p.P1774P NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1774 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGAGGCCCCCGCATCATTTCT 0.692 NA 8 81 0 0 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100273 39100273 + Silent SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:39100273G>C uc002oix.1 - 13 1077 c.969C>G c.(967-969)CGC>CGG p.R323R MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Silent_p.R323R|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 323 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GAGAGCTGGAGCGGTGGGTGG 0.592 NA 8 29 0 0 0 0 SPTBN4 57731 broad.mit.edu 37 19 41062929 41062929 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:41062929G>T uc002ony.2 + 26 5376 c.5290G>T c.(5290-5292)GTG>TTG p.V1764L SPTBN4_uc002onx.2_Missense_Mutation_p.V1764L|SPTBN4_uc002onz.2_Missense_Mutation_p.V1764L|SPTBN4_uc010egx.2_Missense_Mutation_p.V507L|SPTBN4_uc002ooa.2_Missense_Mutation_p.V440L NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1764 Spectrin 15. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGATGGCAGGTGCTGCAGGA 0.532 NA 8 31 1.13e-05 1.29e-05 1 0 ZNF230 7773 broad.mit.edu 37 19 44515025 44515025 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:44515025G>A uc002oyb.1 + 5 1085 c.834G>A c.(832-834)AAG>AAA p.K278K NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CTGGGGAGAAGCCGTTCAAAT 0.423 NA 21 94 0 0 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973549 46973549 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:46973549C>T uc002peq.3 - 2 1050 c.744G>A c.(742-744)AAG>AAA p.K248K PNMAL1_uc002per.3_Silent_p.K248K NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 248 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCCTGGAGTTCTTCTTCTGCT 0.522 NA 20 142 0 0 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48601480 48601480 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:48601480C>A uc002phx.2 - 6 882 c.484G>T c.(484-486)GTG>TTG p.V162L PLA2G4C_uc002phw.2_Missense_Mutation_p.V97L|PLA2G4C_uc010elr.2_Missense_Mutation_p.V162L|PLA2G4C_uc010xzd.1_Missense_Mutation_p.V172L|PLA2G4C_uc002phy.3_Missense_Mutation_p.V162L NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 162 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CCTTCTTCCACGGGCTTCTTC 0.527 NA 27 82 1.75e-13 2.3e-13 1 0 PRR12 57479 broad.mit.edu 37 19 50098459 50098459 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:50098459C>T uc002poo.3 + 4 867 c.867C>T c.(865-867)ATC>ATT p.I289I NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) ACACGGTCATCAAGCACTACC 0.697 NA 5 12 0 0 0 0 ZNF665 79788 broad.mit.edu 37 19 53668172 53668172 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:53668172C>A uc010eqm.1 - 4 1671 c.1571G>T c.(1570-1572)AGT>ATT p.S524I NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 459 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TGAATGAACACTAAAGGCTTT 0.393 NA 47 121 1.62e-14 2.15e-14 1 0 MBOAT7 79143 broad.mit.edu 37 19 54677883 54677883 + Missense_Mutation SNP T T G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:54677883T>G uc002qdq.2 - 9 1540 c.1274A>C c.(1273-1275)TAC>TCC p.Y425S TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.Y109S|MBOAT7_uc010yem.1_Missense_Mutation_p.Y407S|MBOAT7_uc002qdr.2_Missense_Mutation_p.Y425S|MBOAT7_uc002qds.2_Missense_Mutation_p.Y352S|MBOAT7_uc010yen.1_Missense_Mutation_p.Y352S NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 425 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGAGGCCCAGTACCGAAGGGT 0.637 NA 18 103 0 0 0 0 VSNL1 7447 broad.mit.edu 37 2 17836566 17836566 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:17836566A>T uc002rcm.2 + 4 865 c.481A>T c.(481-483)AAC>TAC p.N161Y NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 161 3 (Potential).|EF-hand 4. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATGGATAAGAACAAAGATGA 0.428 NA 26 26 0 0 0 0 GTF3C2 2976 broad.mit.edu 37 2 27550056 27550056 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:27550056C>G uc002rjv.1 - 19 2868 c.2505G>C c.(2503-2505)GAG>GAC p.E835D MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.E290D|GTF3C2_uc002rju.1_Missense_Mutation_p.E846D|GTF3C2_uc002rjw.1_Missense_Mutation_p.E835D NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 835 WD 4. transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATGAATAGCCTCCAGCTGCA 0.542 NA 6 42 0 0 0 0 LHCGR 3973 broad.mit.edu 37 2 48936097 48936097 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:48936097G>T uc002rwu.3 - 8 740 c.670C>A c.(670-672)CCG>ACG p.P224T GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 224 Extracellular (Potential).|LRR 6. male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAGGTTTTCGGCCCTGTGGCC 0.542 NA Familial_Male-Limited_Precocious_Puberty 32 149 6.03e-25 8.38e-25 1 0 NRXN1 9378 broad.mit.edu 37 2 51255050 51255050 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:51255050C>A uc010fbq.2 - 2 1839 c.362G>T c.(361-363)CGC>CTC p.R121L NRXN1_uc002rxe.3_Missense_Mutation_p.R121L|NRXN1_uc002rxd.1_Missense_Mutation_p.R121L NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 184 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCGGAACTGGCGGCGGATGCG 0.647 NA 22 33 2.38e-13 3.11e-13 1 0 DYSF 8291 broad.mit.edu 37 2 71778282 71778282 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:71778282G>A uc002sie.2 + 18 2010 c.1634G>A c.(1633-1635)GGC>GAC p.G545D DYSF_uc010feg.2_Missense_Mutation_p.G576D|DYSF_uc010feh.2_Missense_Mutation_p.G531D|DYSF_uc002sig.3_Missense_Mutation_p.G531D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G545D|DYSF_uc010fef.2_Missense_Mutation_p.G562D|DYSF_uc010fei.2_Missense_Mutation_p.G562D|DYSF_uc010fek.2_Missense_Mutation_p.G563D|DYSF_uc010fej.2_Missense_Mutation_p.G532D|DYSF_uc010fel.2_Missense_Mutation_p.G532D|DYSF_uc010feo.2_Missense_Mutation_p.G577D|DYSF_uc010fem.2_Missense_Mutation_p.G546D|DYSF_uc010fen.2_Missense_Mutation_p.G563D|DYSF_uc002sif.2_Missense_Mutation_p.G546D NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 545 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTCAACACAGGCAAGGTAAGC 0.627 NA 38 53 0 0 0 0 PTCD3 55037 broad.mit.edu 37 2 86352147 86352147 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:86352147C>T uc002sqw.2 + 10 812 c.746C>T c.(745-747)TCT>TTT p.S249F PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 249 mitochondrion protein binding ovary(1) 1 AGAATCTTTTCTCTAATGCCA 0.318 NA 5 35 0 0 0 0 SMYD1 150572 broad.mit.edu 37 2 88407935 88407935 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:88407935G>A uc002ssr.2 + 9 1193 c.1191G>A c.(1189-1191)ATG>ATA p.M397I SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.M93I NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TGGCCGTGATGCGGGCAGGGC 0.542 NA 29 36 0 0 0 0 BUB1 699 broad.mit.edu 37 2 111416240 111416240 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:111416240C>T uc002tgc.2 - 12 1468 c.1356G>A c.(1354-1356)ACG>ACA p.T452T BUB1_uc010yxh.1_Silent_p.T432T|BUB1_uc010fkb.2_Silent_p.T452T NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 452 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CTTTGGATGGCGTTGCCTGAA 0.433 NA 17 34 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135743820 135743820 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:135743820A>T uc002tue.1 - 7 2653 c.2622T>A c.(2620-2622)AAT>AAA p.N874K YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.N761K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.N602K|YSK4_uc002tui.3_Missense_Mutation_p.N891K NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 874 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGATGCTGTATTCTGCTTTT 0.378 NA 22 42 0 0 0 0 CACNB4 785 broad.mit.edu 37 2 152698521 152698521 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:152698521G>A uc002tya.2 - 13 1266 c.1198C>T c.(1198-1200)CGT>TGT p.R400C CACNB4_uc002txy.2_Missense_Mutation_p.R366C|CACNB4_uc002txz.2_Missense_Mutation_p.R382C|CACNB4_uc010fnz.2_Intron NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 400 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TGGGTGGCACGCCAGTACGCC 0.493 NA 25 63 0 0 0 0 SCN2A 6326 broad.mit.edu 37 2 166172118 166172118 + Silent SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:166172118A>G uc002udc.2 + 11 1811 c.1521A>G c.(1519-1521)AAA>AAG p.K507K SCN2A_uc002udd.2_Silent_p.K507K|SCN2A_uc002ude.2_Silent_p.K507K NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 507 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) gaagaaagaaaaagaaacaga 0.303 NA 14 29 0 0 0 0 ABCB11 8647 broad.mit.edu 37 2 169787239 169787239 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:169787239C>T uc002ueo.1 - 25 3473 c.3347G>A c.(3346-3348)GGA>GAA p.G1116E ABCB11_uc010zda.1_Missense_Mutation_p.G558E|ABCB11_uc010zdb.1_Missense_Mutation_p.G592E NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1116 Cytoplasmic (Potential).|ATP 2 (Potential).|ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTTGCCACATCCACTGCTCCC 0.463 NA 6 19 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179650467 179650467 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:179650467G>A uc010zfg.1 - 15 2597 c.2373C>T c.(2371-2373)ATC>ATT p.I791I TTN_uc010zfh.1_Silent_p.I745I|TTN_uc010zfi.1_Silent_p.I745I|TTN_uc010zfj.1_Silent_p.I745I|TTN_uc002unb.2_Silent_p.I791I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 791 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) TAGTTTTCTTGATCTGCATTG 0.413 NA 12 66 0 0 0 0 PGAP1 80055 broad.mit.edu 37 2 197737751 197737751 + Splice_Site SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:197737751C>A uc002utw.2 - 17 1667 c.1553_splice c.e17-1 p.E518_splice PGAP1_uc002utx.2_Splice_Site_p.E344_splice|PGAP1_uc002uty.1_Splice_Site_p.E518_splice NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 GTTATTTCTTCTGTTAAAACA 0.249 NA 3 11 0.004672 0.00502894 1 0 XRCC5 7520 broad.mit.edu 37 2 216986930 216986930 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:216986930A>G uc002vfy.2 + 6 777 c.637A>G c.(637-639)ATA>GTA p.I213V XRCC5_uc002vfz.2_Missense_Mutation_p.I99V NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 213 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AATGGTGATGATATCTTTAGA 0.383 NA Direct_reversal_of_damage|NHEJ 14 49 0 0 0 0 SLC4A3 6508 broad.mit.edu 37 2 220493179 220493179 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:220493179A>G uc002vmp.3 + 3 373 c.104A>G c.(103-105)GAC>GGC p.D35G SLC4A3_uc002vmn.2_Missense_Mutation_p.D35G|SLC4A3_uc002vmo.3_Missense_Mutation_p.D35G|SLC4A3_uc010fwm.2_5'UTR NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 35 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGGAGGAGGACGATGACTTG 0.657 NA 5 19 0 0 0 0 UGT1A5 54579 broad.mit.edu 37 2 234680964 234680964 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:234680964C>T uc002vuw.2 + 5 1364 c.1364C>T c.(1363-1365)CCG>CTG p.P455L UGT1A8_uc002vup.2_Missense_Mutation_p.P451L|UGT1A10_uc002vur.2_Missense_Mutation_p.P451L|UGT1A9_uc002vus.2_Missense_Mutation_p.P451L|UGT1A7_uc002vut.2_Missense_Mutation_p.P451L|UGT1A6_uc002vuu.2_Missense_Mutation_p.P186L|UGT1A6_uc002vuv.3_Missense_Mutation_p.P453L|UGT1A4_uc002vux.2_Missense_Mutation_p.P455L|UGT1A3_uc002vuy.2_Missense_Mutation_p.P455L|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.P454L NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 455 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCGGTGGAGCCGCTGGACCTG 0.587 NA 15 84 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8741079 8741079 + Silent SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:8741079A>G uc002wnb.2 + 25 2685 c.2682A>G c.(2680-2682)ACA>ACG p.T894T PLCB1_uc010zrb.1_Silent_p.T793T|PLCB1_uc002wna.2_Silent_p.T894T|PLCB1_uc002wnc.1_Silent_p.T793T|PLCB1_uc002wnd.1_Silent_p.T471T NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 894 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CTGCCAAAACAGAAGATCTTA 0.358 NA 5 14 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40033381 40033381 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:40033381G>A uc002xka.1 - 37 8178 c.8000C>T c.(7999-8001)TCC>TTC p.S2667F CHD6_uc002xjz.1_Missense_Mutation_p.S204F NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2667 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CTCTGGGTGGGAGTTGGGGTT 0.587 NA 35 101 0 0 0 0 PTPN1 5770 broad.mit.edu 37 20 49195149 49195149 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:49195149G>A uc002xvl.2 + 6 859 c.685G>A c.(685-687)GAT>AAT p.D229N PTPN1_uc010zys.1_Missense_Mutation_p.D156N NM_002827 NP_002818 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 229 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding 0 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CTGTCTGGCTGATACCTGCCT 0.587 NA 7 44 0 0 0 0 CASS4 57091 broad.mit.edu 37 20 55026880 55026880 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:55026880G>T uc002xxp.2 + 6 873 c.648G>T c.(646-648)CAG>CAT p.Q216H CASS4_uc002xxq.3_Missense_Mutation_p.Q216H|CASS4_uc002xxr.2_Missense_Mutation_p.Q216H|CASS4_uc010zze.1_Missense_Mutation_p.Q162H|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 216 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CACAGGGGCAGGGTGTTCCCC 0.502 NA 18 48 1.01e-13 1.33e-13 1 0 SAMSN1 64092 broad.mit.edu 37 21 15870786 15870786 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:15870786G>A uc002yju.1 - 7 978 c.896C>T c.(895-897)GCT>GTT p.A299V SAMSN1_uc010gky.1_Missense_Mutation_p.A131V|SAMSN1_uc002yjv.1_Missense_Mutation_p.A367V NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 299 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GAAGTTTTCAGCAGCTGATAG 0.338 NA 12 33 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32582412 32582412 + Silent SNP C C G rs28520154 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:32582412C>G uc002yow.1 - 12 2809 c.2337G>C c.(2335-2337)ACG>ACC p.T779T TIAM1_uc011adk.1_Silent_p.T779T|TIAM1_uc011adl.1_Silent_p.T754T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 779 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GCCGGACGACCGTCAGGGCAG 0.547 NA 12 40 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32638554 32638554 + Silent SNP T T G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:32638554T>G uc002yow.1 - 5 1207 c.735A>C c.(733-735)GCA>GCC p.A245A TIAM1_uc011adk.1_Silent_p.A245A|TIAM1_uc011adl.1_Silent_p.A245A|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 245 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GCCCCCCGTTTGCTGTCACTC 0.547 NA 25 80 0 0 0 0 TRPM2 7226 broad.mit.edu 37 21 45815335 45815335 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:45815335C>A uc002zet.1 + 13 2046 c.1833C>A c.(1831-1833)TCC>TCA p.S611S TRPM2_uc002zeu.1_Silent_p.S611S|TRPM2_uc002zew.1_Silent_p.S611S|TRPM2_uc010gpt.1_Silent_p.S611S|TRPM2_uc002zex.1_Silent_p.S397S|TRPM2_uc002zey.1_Silent_p.S124S NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 611 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACAAGCGTTCCTCAGGCCATG 0.502 NA 11 139 4.38e-07 5.27e-07 1 0 GNAZ 2781 broad.mit.edu 37 22 23438557 23438557 + Silent SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr22:23438557T>C uc002zwu.1 + 2 1212 c.675T>C c.(673-675)TGT>TGC p.C225C RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 225 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TCATCTTCTGTGTGGAGCTCA 0.567 NA 44 205 0 0 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887558 30887558 + Splice_Site SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr22:30887558A>G uc003aid.2 - 11 1181 c.1081_splice c.e11+1 p.Y361_splice SEC14L4_uc011akz.1_Splice_Site_p.*361_splice|SEC14L4_uc003aie.2_Splice_Site_p.Y346_splice|SEC14L4_uc003aif.2_Splice_Site_p.Y307_splice NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) CGCAGCTCTTACAGACGCCAG 0.602 NA 11 62 0 0 0 0 IL5RA 3568 broad.mit.edu 37 3 3146617 3146617 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:3146617G>T uc011ask.1 - 4 696 c.52C>A c.(52-54)CTG>ATG p.L18M IL5RA_uc010hbq.2_Missense_Mutation_p.L18M|IL5RA_uc010hbr.2_Missense_Mutation_p.L18M|IL5RA_uc010hbs.2_Missense_Mutation_p.L18M|IL5RA_uc011asl.1_Missense_Mutation_p.L18M|IL5RA_uc011asm.1_Missense_Mutation_p.L18M|IL5RA_uc010hbt.2_Missense_Mutation_p.L18M|IL5RA_uc011asn.1_Missense_Mutation_p.L18M|IL5RA_uc010hbu.2_Missense_Mutation_p.L18M NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 18 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TCAGCTTGCAGTATCTCAGTG 0.333 NA 7 12 5.69e-11 7.35e-11 1 0 FLNB 2317 broad.mit.edu 37 3 58109357 58109357 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:58109357G>A uc003djj.2 + 21 3829 c.3664G>A c.(3664-3666)GTG>ATG p.V1222M FLNB_uc010hne.2_Missense_Mutation_p.V1222M|FLNB_uc003djk.2_Missense_Mutation_p.V1222M|FLNB_uc010hnf.2_Missense_Mutation_p.V1222M|FLNB_uc003djl.2_Missense_Mutation_p.V1053M|FLNB_uc003djm.2_Missense_Mutation_p.V1053M NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1222 Interaction with FBLP1.|Filamin 10. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCGGGTCAAGGTGGAGCCCGC 0.517 NA 16 33 0 0 0 0 FOXP1 27086 broad.mit.edu 37 3 71019957 71019957 + Splice_Site SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:71019957C>T uc003dol.2 - 15 1976 c.1653_splice c.e15-1 p.G551_splice FOXP1_uc003dom.2_Splice_Site_p.G475_splice|FOXP1_uc003don.2_Splice_Site|FOXP1_uc003doo.2_Splice_Site_p.G550_splice|FOXP1_uc003dop.2_Splice_Site_p.G551_splice|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Splice_Site_p.G451_splice|FOXP1_uc003doj.2_Splice_Site_p.G451_splice|FOXP1_uc003dok.2_Splice_Site_p.G364_splice|FOXP1_uc003dor.1_3'UTR NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGAAGGGTTACTGTGTAAGAA 0.433 NA T PAX5 ALL 24 40 0 0 0 0 MYH15 22989 broad.mit.edu 37 3 108163738 108163738 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:108163738C>A uc003dxa.1 - 23 2521 c.2464G>T c.(2464-2466)GCA>TCA p.A822S NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 822 IQ. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 AAAATAAGTGCATCCCTAAAT 0.373 NA 18 28 1.26e-06 1.5e-06 1 0 DPPA2 151871 broad.mit.edu 37 3 109031513 109031513 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:109031513A>T uc003dxo.2 - 3 307 c.60T>A c.(58-60)GAT>GAA p.D20E NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 20 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CACTTTCCTCATCATCTACTT 0.408 NA 8 82 0 0 0 0 KTELC1 56983 broad.mit.edu 37 3 119199009 119199009 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:119199009G>C uc003ecm.2 + 5 652 c.568G>C c.(568-570)GAT>CAT p.D190H KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.D31H NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 190 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) CTTCAGAGAAGATCTGGTAAG 0.383 NA 10 34 0 0 0 0 KTELC1 56983 broad.mit.edu 37 3 119210421 119210421 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:119210421G>C uc003ecm.2 + 10 1106 c.1022G>C c.(1021-1023)AGG>ACG p.R341T KTELC1_uc011bja.1_Missense_Mutation_p.R182T NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 341 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) ATTGCTGAAAGGTGAGTTCTG 0.343 NA 3 15 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132435712 132435712 + Missense_Mutation SNP C C T rs147399998 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:132435712C>T uc003epe.1 - 4 789 c.712G>A c.(712-714)GGA>AGA p.G238R NPHP3_uc003epf.1_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 238 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GGTTCACTTCCCAAGGCTCCG 0.448 NA 6 38 0 0 0 0 ATR 545 broad.mit.edu 37 3 142242944 142242944 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:142242944G>A uc003eux.3 - 22 4165 c.4043C>T c.(4042-4044)TCT>TTT p.S1348F NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1348 HEAT 2. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CCGAGCTTGAGAGTTTGCATC 0.413 NA Other_conserved_DNA_damage_response_genes 7 63 0 0 0 0 SGEF 26084 broad.mit.edu 37 3 153840415 153840415 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:153840415G>A uc011bog.1 + 2 845 c.634G>A c.(634-636)GAA>AAA p.E212K uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.E212K NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 212 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAGTTCTTCGGAACAAAAACT 0.587 NA 59 50 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168838941 168838941 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:168838941G>T uc003ffi.3 - 6 740 c.471C>A c.(469-471)GCC>GCA p.A157A MECOM_uc010hwk.1_Silent_p.A180A|MECOM_uc003ffj.3_Silent_p.A222A|MECOM_uc011bpi.1_Silent_p.A158A|MECOM_uc003ffn.3_Silent_p.A157A|MECOM_uc003ffk.2_Silent_p.A157A|MECOM_uc003ffl.2_Silent_p.A317A|MECOM_uc011bpj.1_Silent_p.A345A|MECOM_uc011bpk.1_Silent_p.A147A|MECOM_uc010hwn.2_Silent_p.A345A NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 157 Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CATGGGCCCGGGCACCGACAT 0.512 NA 49 47 3.22e-24 4.46e-24 1 0 OPA1 4976 broad.mit.edu 37 3 193332569 193332569 + Silent SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:193332569A>T uc003ftm.2 + 2 324 c.90A>T c.(88-90)CTA>CTT p.L30L OPA1_uc003ftg.2_Silent_p.L30L|OPA1_uc003fth.2_Silent_p.L30L|OPA1_uc003fti.2_Silent_p.L30L|OPA1_uc003ftj.2_Silent_p.L30L|OPA1_uc003ftk.2_Silent_p.L30L|OPA1_uc003ftl.2_Silent_p.L30L|OPA1_uc003ftn.2_Silent_p.L30L NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 30 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GTTTACCACTACAAAAACTAC 0.318 NA 47 46 0 0 0 0 ATP8A1 10396 broad.mit.edu 37 4 42576696 42576696 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:42576696C>G uc003gwr.2 - 14 1467 c.1235G>C c.(1234-1236)GGT>GCT p.G412A ATP8A1_uc003gws.2_Missense_Mutation_p.G412A|ATP8A1_uc011byz.1_Missense_Mutation_p.G412A NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 412 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TGTCAGAGTACCAGTTTTGTC 0.323 NA 4 24 0 0 0 0 UBA6 55236 broad.mit.edu 37 4 68490770 68490770 + Missense_Mutation SNP C C T rs140996878 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:68490770C>T uc003hdg.3 - 29 2706 c.2654G>A c.(2653-2655)CGC>CAC p.R885H NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 885 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 ACCAGCTATGCGCTTTGTTTT 0.373 NA 8 45 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72420881 72420881 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:72420881G>C uc003hfy.2 + 21 2836 c.2719G>C c.(2719-2721)GGT>CGT p.G907R SLC4A4_uc010iic.2_Missense_Mutation_p.G907R|SLC4A4_uc010iib.2_Missense_Mutation_p.G823R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G907R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G863R|SLC4A4_uc010iid.2_Missense_Mutation_p.G111R NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 907 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGTACTCTATGGTGTGTTCCT 0.328 NA 28 210 0 0 0 0 CXCL1 2919 broad.mit.edu 37 4 74735491 74735491 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:74735491G>A uc003hhh.1 + 2 285 c.206G>A c.(205-207)TGC>TAC p.C69Y NM_001511 NP_001502 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 69 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GGACCCCACTGCGCCCAAACC 0.652 NA 65 101 0 0 0 0 FGF5 2250 broad.mit.edu 37 4 81196135 81196135 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:81196135C>G uc003hmd.2 + 2 665 c.428C>G c.(427-429)GCG>GGG p.A143G FGF5_uc003hme.2_Intron NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 143 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 AAATTTTTAGCGATGTCAAAA 0.318 NA 6 14 0 0 0 0 HERC6 55008 broad.mit.edu 37 4 89326088 89326088 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:89326088T>A uc011cdi.1 + 9 1336 c.1153T>A c.(1153-1155)TCC>ACC p.S385T HERC6_uc011cdj.1_Missense_Mutation_p.S385T|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 385 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) AATTAGCCAGTCCATGGCAGA 0.428 NA 21 45 0 0 0 0 MTRR 4552 broad.mit.edu 37 5 7873625 7873625 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:7873625G>T uc003jed.2 + 3 380 c.350G>T c.(349-351)CGG>CTG p.R117L MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Missense_Mutation_p.R90L|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 117 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GCTCACCTGCGGTATGGGTTA 0.443 NA 11 42 2.27e-07 2.74e-07 1 0 ANKRD34B 340120 broad.mit.edu 37 5 79855683 79855683 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:79855683C>T uc010jam.2 - 4 506 c.156G>A c.(154-156)AAG>AAA p.K52K ANKRD34B_uc003kgw.2_Silent_p.K52K|ANKRD34B_uc010jan.2_Silent_p.K52K NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 52 ANK 2. cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CATGTTTGGTCTTACAAGCGA 0.463 NA 23 143 0 0 0 0 MEF2C 4208 broad.mit.edu 37 5 88047801 88047801 + Missense_Mutation SNP A A C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:88047801A>C uc003kjj.2 - 5 1135 c.462T>G c.(460-462)AGT>AGG p.S154R MEF2C_uc003kji.2_Missense_Mutation_p.S154R|MEF2C_uc003kjk.2_Missense_Mutation_p.S154R|MEF2C_uc003kjm.2_Missense_Mutation_p.S152R|MEF2C_uc003kjl.2_Missense_Mutation_p.S172R NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 154 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TGTACACCAAACTGTTGTGGC 0.493 NA HNSCC(66;0.2) 13 89 0 0 0 0 MCTP1 79772 broad.mit.edu 37 5 94288963 94288963 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:94288963C>G uc003kkx.2 - 3 941 c.941G>C c.(940-942)TGT>TCT p.C314S MCTP1_uc003kkv.2_Missense_Mutation_p.C93S|MCTP1_uc003kkw.2_Missense_Mutation_p.C93S|MCTP1_uc003kkz.2_5'UTR NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 314 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AACCAGAATACAAGCTTTTTC 0.368 NA 6 21 0 0 0 0 RFESD 317671 broad.mit.edu 37 5 94989858 94989858 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:94989858A>T uc003klf.2 + 3 1485 c.93A>T c.(91-93)AGA>AGT p.R31S RFESD_uc003klg.2_Missense_Mutation_p.R84S|RFESD_uc011cun.1_Missense_Mutation_p.R84S|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron NM_173362 NP_775498 Q8TAC1 RFESD_HUMAN Rieske (Fe-S) domain containing isoform 2 31 Rieske 2.|Rieske 1. 2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity 0 all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162) all cancers(79;5.94e-17) AATCTGAAAGAATGACAGCTG 0.383 NA 8 34 0 0 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567435 140567435 + Missense_Mutation SNP A A C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:140567435A>C uc003liw.1 + 1 543 c.543A>C c.(541-543)AAA>AAC p.K181N NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 181 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCATATTAAAATTAGTGGCA 0.448 NA 6 143 0 0 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741362 140741362 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:140741362G>C uc003ljs.1 + 1 1660 c.1660G>C c.(1660-1662)GAC>CAC p.D554H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.D554H|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 554 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTAGTGGGCGACCTCAATGA 0.687 NA 41 58 0 0 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866933 140866933 + Silent SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:140866933T>C uc003lky.1 + 1 2193 c.2193T>C c.(2191-2193)TGT>TGC p.C731C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.C731C|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 731 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCACCTGTGCCTGTCTCA 0.537 NA 8 61 0 0 0 0 ARAP3 64411 broad.mit.edu 37 5 141033932 141033932 + Missense_Mutation SNP A A G rs142227089 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:141033932A>G uc003llm.2 - 33 4298 c.4220T>C c.(4219-4221)GTG>GCG p.V1407A ARAP3_uc003lll.2_Missense_Mutation_p.V358A|ARAP3_uc011dbe.1_Missense_Mutation_p.V1056A|ARAP3_uc003lln.2_Missense_Mutation_p.V1238A NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1407 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 TTCCTCATACACTGGCTCCTC 0.582 NA 10 91 0 0 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948568 2948568 + Missense_Mutation SNP G G T rs145397970 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:2948568G>T uc003muk.2 - 6 3090 c.1095C>A c.(1093-1095)AAC>AAA p.N365K SERPINB6_uc003mui.2_Missense_Mutation_p.N248K|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.N365K|SERPINB6_uc003mum.2_Missense_Mutation_p.N365K|SERPINB6_uc003mun.2_Missense_Mutation_p.N365K|SERPINB6_uc003muo.2_Missense_Mutation_p.N365K NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 365 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGAGAATCCCGTTGGTCTTGC 0.602 NA 34 36 5.97e-30 8.36e-30 1 0 HIST1H3D 8351 broad.mit.edu 37 6 26197234 26197234 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:26197234T>A uc003ngv.2 - 2 642 c.245A>T c.(244-246)GAT>GTT p.D82V HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 82 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) AAAACGCAGATCAGTCTTGAA 0.607 NA 18 88 0 0 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271403 26271403 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:26271403G>A uc003nhi.2 - 1 210 c.210C>T c.(208-210)CGC>CGT p.R70R uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank NM_003534 NP_003525 P68431 H31_HUMAN H3 histone family, member H 70 R -> C (in Ref. 13; AAH67493). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 CTCGCACCAGGCGTTGGAAAG 0.602 NA 12 138 0 0 0 0 OR10C1 442194 broad.mit.edu 37 6 29407954 29407954 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:29407954C>A uc011dlp.1 + 1 162 c.162C>A c.(160-162)CTC>CTA p.L54L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 54 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGCTGCCCTCCAGTCCCCTA 0.562 NA 54 92 5.57e-27 7.77e-27 1 0 VARS 7407 broad.mit.edu 37 6 31752467 31752467 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:31752467C>A uc003nxe.2 - 11 1795 c.1372G>T c.(1372-1374)GCC>TCC p.A458S VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 458 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CGGACAAAGGCCTCTGTCACA 0.592 NA 24 53 4.48e-21 6.1e-21 1 0 DOM3Z 1797 broad.mit.edu 37 6 31938542 31938542 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:31938542G>A uc003nyo.1 - 3 1187 c.653C>T c.(652-654)TCT>TTT p.S218F DOM3Z_uc003nyp.1_Missense_Mutation_p.S218F|DOM3Z_uc003nyq.1_Intron|DOM3Z_uc003nyr.1_Missense_Mutation_p.S218F|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN DOM-3 homolog Z 218 identical protein binding|metal ion binding|nucleotide binding 0 GCGTAGCACAGAGCAGAAGGC 0.622 NA 6 42 0 0 0 0 PM20D2 135293 broad.mit.edu 37 6 89862895 89862895 + Nonsense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:89862895A>T uc003pmz.2 + 3 843 c.748A>T c.(748-750)AGA>TGA p.R250* NM_001010853 NP_001010853 Q8IYS1 P20D2_HUMAN aminoacylase 1-like 2 250 hydrolase activity 0 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) ACCAACCTGGAGAGTTCATGG 0.348 NA 18 29 0 0 0 0 EPHA7 2045 broad.mit.edu 37 6 94068039 94068039 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:94068039G>T uc003poe.2 - 4 1164 c.923C>A c.(922-924)TCC>TAC p.S308Y EPHA7_uc003pof.2_Missense_Mutation_p.S308Y|EPHA7_uc011eac.1_Missense_Mutation_p.S308Y NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 308 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTCACATCTGGAGGAGCCTTC 0.463 NA 43 41 3.71e-28 5.17e-28 1 0 WASF1 8936 broad.mit.edu 37 6 110421760 110421760 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:110421760C>T uc003ptv.1 - 11 2482 c.1645G>A c.(1645-1647)GAT>AAT p.D549N WASF1_uc003ptw.1_Missense_Mutation_p.D549N|WASF1_uc003ptx.1_Missense_Mutation_p.D549N|WASF1_uc003pty.1_Missense_Mutation_p.D549N NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 549 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) AATTCTGAATCATCTTCCGAA 0.393 NA 11 22 0 0 0 0 PTPRK 5796 broad.mit.edu 37 6 128304088 128304088 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:128304088G>A uc003qbk.2 - 24 3789 c.3422C>T c.(3421-3423)GCC>GTC p.A1141V PTPRK_uc003qbj.2_Missense_Mutation_p.A1142V|PTPRK_uc010kfc.2_Missense_Mutation_p.A1148V|PTPRK_uc011ebu.1_Missense_Mutation_p.A1164V NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1141 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACATAAGCAGGCTTCTAAAAT 0.333 NA 8 68 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146720389 146720389 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:146720389T>A uc010khw.1 + 8 2684 c.2214T>A c.(2212-2214)AGT>AGA p.S738R GRM1_uc010khv.1_Missense_Mutation_p.S738R|GRM1_uc003qll.2_Missense_Mutation_p.S738R|GRM1_uc011edz.1_Missense_Mutation_p.S738R|GRM1_uc011eea.1_Missense_Mutation_p.S738R NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 738 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCTACCCAAGTATCAAGGAAG 0.493 NA 46 70 0 0 0 0 LRP11 84918 broad.mit.edu 37 6 150184555 150184555 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:150184555G>A uc003qng.2 - 1 926 c.602C>T c.(601-603)TCG>TTG p.S201L uc003qni.1_5'Flank|LRP11_uc003qnh.1_Missense_Mutation_p.S201L NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 201 Extracellular (Potential). integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) CTgccggggcgaggcgcgcgc 0.502 NA 8 15 0 0 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151239718 151239718 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:151239718G>A uc003qob.2 + 9 1166 c.898G>A c.(898-900)GTT>ATT p.V300I MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.V301I|MTHFD1L_uc003qoc.2_Missense_Mutation_p.V248I NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 300 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TACAGGGAAGGTTGGGTGTGG 0.413 NA 28 42 0 0 0 0 C6orf118 168090 broad.mit.edu 37 6 165715503 165715503 + Missense_Mutation SNP G G T rs149637046 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:165715503G>T uc003qum.3 - 2 344 c.308C>A c.(307-309)GCG>GAG p.A103E C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 103 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTTCATCCTCGCCACCTTCCC 0.682 NA 43 49 6.24e-21 8.48e-21 1 0 PDE10A 10846 broad.mit.edu 37 6 165848755 165848755 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:165848755C>A uc003qun.2 - 7 718 c.477G>T c.(475-477)AGG>AGT p.R159S PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R89S|PDE10A_uc003quo.2_Missense_Mutation_p.R169S NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 159 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GCAGTGTTTTCCTGGACTTGG 0.458 NA 11 60 0.000151284 0.000167976 1 0 TCP10L2 401285 broad.mit.edu 37 6 167595389 167595389 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:167595389G>A uc010kkp.2 + 8 1178 c.1047G>A c.(1045-1047)CAG>CAA p.Q349Q NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 349 0 CCTCCAGACAGGACATGGGGC 0.517 NA 18 8 0 0 0 0 NXPH1 30010 broad.mit.edu 37 7 8791022 8791022 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:8791022G>T uc003srv.2 + 3 1350 c.439G>T c.(439-441)GGG>TGG p.G147W NXPH1_uc011jxh.1_Missense_Mutation_p.G30W NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 147 III. extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TCATGGCAATGGGACATTTAG 0.393 NA 15 50 2.32e-09 2.91e-09 1 0 SP4 6671 broad.mit.edu 37 7 21469118 21469118 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:21469118C>T uc003sva.2 + 3 516 c.335C>T c.(334-336)TCA>TTA p.S112L SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 112 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 CCTCCTGCTTCAAAAGAGAAT 0.438 NA 17 56 0 0 0 0 GPR141 353345 broad.mit.edu 37 7 37780667 37780667 + Missense_Mutation SNP G G T rs145445554 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:37780667G>T uc003tfm.1 + 1 672 c.672G>T c.(670-672)CAG>CAT p.Q224H uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 224 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 TCTGGGCTCAGCTGAAAAACC 0.438 NA 43 110 2.36e-20 3.2e-20 1 0 COBL 23242 broad.mit.edu 37 7 51097136 51097136 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:51097136C>G uc003tpr.3 - 10 1842 c.1657G>C c.(1657-1659)GAT>CAT p.D553H COBL_uc003tps.2_Missense_Mutation_p.D610H|COBL_uc011kcl.1_Missense_Mutation_p.D553H|COBL_uc003tpp.3_Missense_Mutation_p.D339H|COBL_uc003tpq.3_Missense_Mutation_p.D494H|COBL_uc003tpo.3_Missense_Mutation_p.D95H NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 553 skin(3)|ovary(2) 5 Glioma(55;0.08) AACCCCGAATCCACAGGATCA 0.527 NA 22 55 0 0 0 0 ZNF679 168417 broad.mit.edu 37 7 63721218 63721218 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:63721218C>T uc003tsx.2 + 4 442 c.173C>T c.(172-174)GCT>GTT p.A58V NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN zinc finger protein 679 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ACAGGTATTGCTGTCTCTAAG 0.333 NA 14 49 0 0 0 0 CLDN3 1365 broad.mit.edu 37 7 73183873 73183873 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:73183873G>T uc003tzg.3 - 1 728 c.507C>A c.(505-507)GCC>GCA p.A169A RFC2_uc011kfa.1_Intron NM_001306 NP_001297 O15551 CLD3_HUMAN claudin 3 169 Helical; (Potential). response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity 0 Lung NSC(55;0.159) GCAGCGCCGCGGCCGCCCAGC 0.701 NA 21 26 8.34e-07 9.92e-07 1 0 YWHAG 7532 broad.mit.edu 37 7 75988084 75988084 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:75988084G>T uc011kgj.1 - 1 259 c.42C>A c.(40-42)GCC>GCA p.A14A NM_012479 NP_036611 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 14 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity ovary(1)|lung(1) 2 CCGCCTGCTCGGCCAGCCGGG 0.697 NA 17 40 6.94e-10 8.82e-10 1 0 UPK3B 80761 broad.mit.edu 37 7 76140092 76140092 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:76140092C>A uc003ufq.2 + 1 348 c.123C>A c.(121-123)ACC>ACA p.T41T UPK3B_uc003ufo.2_Intron|UPK3B_uc010ldk.1_Intron NM_030570 NP_085047 Q9BT76 UPK3B_HUMAN uroplakin 3B isoform a 41 Lumenal (Potential). negative regulation of gene expression integral to membrane|plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(862;0.204) CCAGCCAGACCCAAGGGGCTG 0.706 NA 7 22 1.59e-06 1.87e-06 1 0 PCLO 27445 broad.mit.edu 37 7 82390032 82390032 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:82390032C>A uc003uhx.2 - 24 15500 c.15211G>T c.(15211-15213)GTA>TTA p.V5071L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4994 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGTCTGCATACTCTTGTTTTT 0.333 NA 9 36 1.13e-05 1.29e-05 1 0 PCLO 27445 broad.mit.edu 37 7 82586052 82586052 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:82586052G>T uc003uhx.2 - 5 4506 c.4217C>A c.(4216-4218)CCC>CAC p.P1406H PCLO_uc003uhv.2_Missense_Mutation_p.P1406H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1337 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAAATCTGAGGGGCTGGAAGG 0.398 NA 16 59 1.03e-11 1.34e-11 1 0 SEMA3E 9723 broad.mit.edu 37 7 82996904 82996904 + Nonstop_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:82996904A>G uc003uhy.1 - 17 2792 c.2326T>C c.(2326-2328)TGA>CGA p.*776R NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 776 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) TCACCCCATCAGGAGTCCAGC 0.408 NA 5 244 0 0 0 0 PON3 5446 broad.mit.edu 37 7 94996731 94996731 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:94996731T>C uc003unt.2 - 5 462 c.437A>G c.(436-438)GAG>GGG p.E146G PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.E194G NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 146 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TTGTTGTTCCTCAAATTTAAA 0.348 NA 3 132 0 0 0 0 RNF133 168433 broad.mit.edu 37 7 122338423 122338423 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:122338423T>C uc003vkj.1 - 1 786 c.550A>G c.(550-552)ATC>GTC p.I184V CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 184 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 ATCCAGATGATGTGCTTTCTC 0.378 NA 28 73 0 0 0 0 NUP205 23165 broad.mit.edu 37 7 135304382 135304382 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:135304382G>T uc003vsw.2 + 29 4206 c.4175G>T c.(4174-4176)GGA>GTA p.G1392V NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1392 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GCTTCTATTGGAGATTCTTCA 0.363 NA 7 27 8.13e-05 9.04e-05 1 0 DGKI 9162 broad.mit.edu 37 7 137148266 137148266 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:137148266G>T uc003vtt.2 - 28 2729 c.2728C>A c.(2728-2730)CTG>ATG p.L910M DGKI_uc003vtu.2_Intron NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 910 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 AGATCTTTCAGATCTGAGTCC 0.522 NA 21 42 1.02e-10 1.31e-10 1 0 ZNF425 155054 broad.mit.edu 37 7 148801945 148801945 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:148801945G>A uc003wfj.2 - 4 1091 c.1018C>T c.(1018-1020)CGC>TGC p.R340C NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 340 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTCTTCAGGCGGAAGCACCGG 0.662 NA 10 45 0 0 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939293 150939293 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:150939293G>A uc003wjs.2 - 6 706 c.605C>T c.(604-606)TCT>TTT p.S202F SMARCD3_uc003wjt.2_Missense_Mutation_p.S189F|SMARCD3_uc003wju.2_Missense_Mutation_p.S189F|SMARCD3_uc011kvh.1_Missense_Mutation_p.S202F|SMARCD3_uc010lqa.1_Missense_Mutation_p.S202F NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 202 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGAAAGAAGAGAACTTCCG 0.547 NA 24 130 0 0 0 0 SCARA5 286133 broad.mit.edu 37 8 27779353 27779353 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:27779353G>A uc003xgj.2 - 4 1091 c.651C>T c.(649-651)GGC>GGT p.G217G SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.G174G|SCARA5_uc003xgl.2_Silent_p.G217G NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 217 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CCAGCTCCTCGCCCAGGATGC 0.721 NA 4 3 0 0 0 0 GSR 2936 broad.mit.edu 37 8 30546804 30546804 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:30546804C>T uc003xih.1 - 9 1006 c.915G>A c.(913-915)TTG>TTA p.L305L NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 305 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TGCTGACTTCCAAGCCCGACA 0.502 NA 27 27 0 0 0 0 PRDM14 63978 broad.mit.edu 37 8 70970925 70970925 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:70970925G>C uc003xym.2 - 6 1538 c.1336C>G c.(1336-1338)CGG>GGG p.R446G NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 446 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) ATCCGAAGCCGGTCCCGCTTC 0.502 NA 28 64 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73849954 73849954 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:73849954T>A uc003xzb.2 + 3 2952 c.2364T>A c.(2362-2364)TTT>TTA p.F788L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 788 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CCCCCAGGTTTCCCAAGCAGA 0.537 NA 21 78 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139164289 139164289 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:139164289C>A uc003yuy.2 - 13 2600 c.2429G>T c.(2428-2430)GGA>GTA p.G810V FAM135B_uc003yux.2_Missense_Mutation_p.G711V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G372V|FAM135B_uc003yvb.2_Missense_Mutation_p.G372V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 810 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) AGAGCAAGATCCTGGGGAACC 0.537 NA HNSCC(54;0.14) 15 99 0.000219431 0.000243216 1 0 EIF2C2 27161 broad.mit.edu 37 8 141568597 141568597 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:141568597C>A uc003yvn.2 - 7 905 c.865G>T c.(865-867)GCC>TCC p.A289S EIF2C2_uc010men.2_Missense_Mutation_p.A212S|EIF2C2_uc010meo.2_Missense_Mutation_p.A289S NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 289 PAZ. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TGGTGACTGGCGGGCCGCCGG 0.597 NA 65 84 9.65e-37 1.36e-36 1 0 KIAA2026 158358 broad.mit.edu 37 9 6007399 6007399 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:6007399G>A uc003zjq.3 - 1 605 c.389C>T c.(388-390)CCG>CTG p.P130L NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 130 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GGGCTGCTGCGGGAAGGCGCG 0.706 NA 24 19 0 0 0 0 SIGMAR1 10280 broad.mit.edu 37 9 34635731 34635731 + Silent SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:34635731G>C uc003zvb.2 - 4 644 c.570C>G c.(568-570)GTC>GTG p.V190V SIGMAR1_uc003zva.3_Silent_p.V170V|SIGMAR1_uc003zuz.2_Silent_p.V101V|SIGMAR1_uc003zvc.2_Silent_p.V159V|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron NM_005866 NP_005857 Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 190 Cytoplasmic (Potential). ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding 0 Dextromethorphan(DB00514) GGGTGCTGAAGACAGTGTCGG 0.617 NA 43 35 0 0 0 0 ZNF658 26149 broad.mit.edu 37 9 40772546 40772546 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:40772546T>C uc004abs.2 - 5 2881 c.2729A>G c.(2728-2730)TAT>TGT p.Y910C ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910C NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 910 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACTGCATTCATAGGGTTTCTC 0.443 NA 139 120 0 0 0 0 RASEF 158158 broad.mit.edu 37 9 85616027 85616027 + Nonsense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:85616027A>T uc004amo.1 - 10 1482 c.1221T>A c.(1219-1221)TAT>TAA p.Y407* NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 407 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 CCTCATCCACATAGGAAGAGC 0.502 NA 9 34 0 0 0 0 IARS 3376 broad.mit.edu 37 9 95027219 95027219 + Silent SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:95027219G>C uc004art.1 - 16 1949 c.1692C>G c.(1690-1692)ACC>ACG p.T564T IARS_uc004ars.1_Silent_p.T409T|IARS_uc004aru.3_Silent_p.T564T|IARS_uc010mqr.2_Silent_p.T454T|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 564 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) ACCATCCTCTGGTTTGGTCGA 0.398 NA 9 35 0 0 0 0 ECM2 1842 broad.mit.edu 37 9 95274325 95274325 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:95274325T>A uc004ash.2 - 5 1203 c.1138A>T c.(1138-1140)ACT>TCT p.T380S CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.T358S|ECM2_uc011lty.1_Missense_Mutation_p.T380S|ECM2_uc004asg.2_Missense_Mutation_p.T358S NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 380 LRR 1. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 CCTGAAGAAGTGATATTATTT 0.403 NA 11 50 0 0 0 0 CERCAM 51148 broad.mit.edu 37 9 131193524 131193524 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:131193524G>A uc004buz.3 + 9 1543 c.1145G>A c.(1144-1146)CGC>CAC p.R382H CERCAM_uc004buy.1_Missense_Mutation_p.R304H|CERCAM_uc010mxz.2_Missense_Mutation_p.R304H|CERCAM_uc010mya.1_Missense_Mutation_p.R223H NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 382 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 TACTCGGGCCGCACTCTGACC 0.627 NA 4 123 0 0 0 0 GLRA2 2742 broad.mit.edu 37 X 14708939 14708939 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:14708939G>A uc010nep.2 + 9 1370 c.1038G>A c.(1036-1038)AAG>AAA p.K346K GLRA2_uc010neq.2_Silent_p.K346K|GLRA2_uc004cwe.3_Silent_p.K346K|GLRA2_uc011mio.1_Silent_p.K257K|GLRA2_uc011mip.1_Silent_p.K324K NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 346 Cytoplasmic (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GGCAACACAAGGAGTTCCTGC 0.488 NA 21 19 0 0 0 0 ZXDA 7789 broad.mit.edu 37 X 57934507 57934507 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:57934507G>C uc004dve.2 - 1 2561 c.2348C>G c.(2347-2349)TCT>TGT p.S783C NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 783 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TTCTTTCTGAGAACCATGGTT 0.448 NA 25 16 0 0 0 0 TAF1 6872 broad.mit.edu 37 X 70612767 70612767 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:70612767A>G uc004dzu.3 + 20 3022 c.2971A>G c.(2971-2973)ACA>GCA p.T991A BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.T1012A|TAF1_uc004dzv.3_Missense_Mutation_p.T165A NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 991 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AGTGACAGGAACAGATGCAGA 0.428 NA 52 31 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962848 73962848 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:73962848G>T uc004eby.2 - 3 2161 c.1544C>A c.(1543-1545)TCC>TAC p.S515Y NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 515 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTCCTCTTTGGAACCAACTGG 0.388 NA 5 7 3.6e-05 4.05e-05 1 0 DACH2 117154 broad.mit.edu 37 X 85969652 85969652 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:85969652A>G uc004eew.2 + 6 1203 c.1033A>G c.(1033-1035)ACT>GCT p.T345A DACH2_uc004eex.2_Missense_Mutation_p.T332A|DACH2_uc010nmq.2_Missense_Mutation_p.T211A|DACH2_uc011mra.1_Missense_Mutation_p.T178A|DACH2_uc010nmr.2_Missense_Mutation_p.T126A|DACH2_uc004eey.2_Missense_Mutation_p.T28A|DACH2_uc004eez.2_Missense_Mutation_p.T28A NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 CCATCTCAATACTATTGCCAA 0.448 NA 18 21 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105178437 105178437 + Splice_Site SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:105178437G>T uc004emd.2 + 20 3802 c.3499_splice c.e20+1 p.L1167_splice NRK_uc010npc.1_Splice_Site_p.L835_splice NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 AGTGCCATCTGTGAGTGTGTT 0.368 NA HNSCC(51;0.14) 29 20 2.85e-18 3.85e-18 1 0 GLUD2 2747 broad.mit.edu 37 X 120181945 120181945 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:120181945G>A uc004eto.2 + 1 484 c.407G>A c.(406-408)CGG>CAG p.R136Q NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 136 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) GAAGGCTACCGGGCCCAGCAC 0.592 NA 26 10 0 0 0 0 IDS 3423 broad.mit.edu 37 X 148585743 148585743 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:148585743G>C uc011mxe.1 - 2 382 c.184C>G c.(184-186)CCA>GCA p.P62A IDS_uc011mxf.1_5'UTR|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.P62A|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.P62A NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 62 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCAATATTTGGGGACCTCACC 0.562 NA 4 9 0 0 0 0 GABRQ 55879 broad.mit.edu 37 X 151806746 151806746 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:151806746G>A uc004ffp.1 + 1 110 c.90G>A c.(88-90)CCG>CCA p.P30P NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 30 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCATCCCGAAATTCCACT 0.642 NA 14 18 0 0 0 0 PNMA3 29944 broad.mit.edu 37 X 152226119 152226119 + Nonsense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:152226119T>A uc004fhc.2 + 2 1043 c.707T>A c.(706-708)TTG>TAG p.L236* PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 236 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ctggctgccttgcagcaggtg 0 NA 52 48 0 0 0 0 IL9R 3581 broad.mit.edu 37 X 155233507 155233507 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:155233507G>T uc004fnv.1 + 4 599 c.420G>T c.(418-420)CTG>CTT p.L140L IL9R_uc010nvn.2_Silent_p.L119L|IL9R_uc004fnu.1_Missense_Mutation_p.C185F NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 140 Extracellular (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGAGTACCTGCCCCGGAGAC 0.622 NA 13 24 1.05e-09 1.33e-09 1 0 INSC 387755 broad.mit.edu 37 11 15197593 15197601 + In_Frame_Del DEL CAGTGCTGT CAGTGCTGT - rs61745109 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:15197593_15197601delCAGTGCTGT uc001mly.2 + 3 550_558 c.504_512delCAGTGCTGT c.(502-513)TACAGTGCTGTC>TAC p.SAV169del INSC_uc001mlz.2_In_Frame_Del_p.SAV122del|INSC_uc001mma.2_In_Frame_Del_p.SAV122del|INSC_uc010rcs.1_In_Frame_Del_p.SAV122del|INSC_uc001mmb.2_In_Frame_Del_p.SAV122del|INSC_uc001mmc.2_In_Frame_Del_p.SAV122del NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 169_171 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TCAGCGAGTACAGTGCTGTCAGCAGGAAC 0.612 NA 7 12 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7576858 7576858 + Frame_Shift_Del DEL G G - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:7576858delG uc002gim.2 - 9 1182 c.988delC c.(988-990)CTTfs p.L330fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.L330fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.L198fs|TP53_uc010cng.1_Frame_Shift_Del_p.L198fs|TP53_uc002gii.1_Frame_Shift_Del_p.L198fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L330fs|TP53_uc010cni.1_Frame_Shift_Del_p.L330fs|TP53_uc002gij.2_Frame_Shift_Del_p.L330fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 330 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L330H(3)|p.?(1)|p.L330P(1)|p.L330R(1)|p.L330fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGTACCTGAAGGGTGAAATAT 0.453 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 70 --- --- --- --- NA NA NA NA CARM1 10498 broad.mit.edu 37 19 11018818 11018818 + Frame_Shift_Del DEL C C - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:11018818delC uc002mpz.2 + 3 576 c.450delC c.(448-450)TTCfs p.F150fs CARM1_uc010dxn.2_RNA NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 150 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 TGCAGTACTTCCAGGTGGGTT 0.612 NA 32 27 --- --- --- --- NA NA NA NA C21orf91 54149 broad.mit.edu 37 21 19165780 19165781 + Frame_Shift_Ins INS - - A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:19165780_19165781insA uc002yko.3 - 5 936_937 c.845_846insT c.(844-846)CTGfs p.L282fs C21orf91_uc002ykm.2_5'Flank|C21orf91_uc002ykn.2_5'Flank|C21orf91_uc002ykq.3_Frame_Shift_Ins_p.L281fs|C21orf91_uc002ykp.3_3'UTR NM_001100420 NP_001093890 Q9NYK6 EURL_HUMAN early undifferentiated retina and lens isoform 282 ovary(1) 1 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) GCCCTACTTGCAGACATGGTAA 0.475 NA 8 22 --- --- --- --- NA NA NA NA SI 6476 broad.mit.edu 37 3 164735374 164735374 + Frame_Shift_Del DEL C C - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:164735374delC uc003fei.2 - 31 3783 c.3721delG c.(3721-3723)GAAfs p.E1241fs NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1241 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCATATAATTCCCGAACCTCT 0.338 NA HNSCC(35;0.089) 24 22 --- --- --- --- NA NA NA NA LAMA4 3910 broad.mit.edu 37 6 112537599 112537601 + In_Frame_Del DEL GTT GTT - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:112537599_112537601delGTT uc003pvu.2 - 3 574_576 c.265_267delAAC c.(265-267)AACdel p.N89del LAMA4_uc003pvv.2_In_Frame_Del_p.N89del|LAMA4_uc003pvt.2_In_Frame_Del_p.N89del|LAMA4_uc003pvw.2_In_Frame_Del_p.N89del NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 89 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCAAACACTCGTTGGAATTGCCA 0.453 NA 24 56 --- --- --- --- NA NA NA NA FAM9A 171482 broad.mit.edu 37 X 8764319 8764320 + Frame_Shift_Ins INS - - T rs1985393 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:8764319_8764320insT uc004csg.2 - 6 588_589 c.477_478insA c.(475-480)AAACAAfs p.K159fs NM_174951 NP_777611 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 159_160 nucleolus 0 Hepatocellular(5;0.219) CTTTTTAGTTGTTTTTTTTTCA 0.292 NA 5 2 --- --- --- --- NA NA NA NA APOO 79135 broad.mit.edu 37 X 23897090 23897091 + Frame_Shift_Ins INS - - GCTGGCTC TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:23897090_23897091insGCTGGCTC uc004dax.2 - 3 409_410 c.178_179insGAGCCAGC c.(178-180)CTTfs p.L60fs APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA NM_024122 NP_077027 Q9BUR5 APOO_HUMAN apolipoprotein O precursor 60 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle 0 GCTTTCTTCAAGCTGGCTCCTT 0.441 NA 14 39 --- --- --- --- NA NA NA NA