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 KAZ 23254 broad.mit.edu 37 1 15287295 15287295 + Silent SNP C C T rs150589352 byFrequency TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:15287295C>T uc001avm.3 + 2 623 c.342C>T c.(340-342)GTC>GTT p.V114V KAZ_uc009vog.1_Silent_p.V114V|KAZ_uc010obj.1_Silent_p.V114V|KAZ_uc001avo.2_Silent_p.V108V|KAZ_uc001avp.2_Silent_p.V20V|KAZ_uc001avq.2_Silent_p.V20V|KAZ_uc001avr.2_Silent_p.V17V NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 114 Potential. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CCTCTGAGGTCCTCTCGGCCA 0.612 NA 7 10 0 0 0 0 EIF2C1 26523 broad.mit.edu 37 1 36379463 36379463 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:36379463G>A uc001bzl.2 + 13 1816 c.1603G>A c.(1603-1605)GAT>AAT p.D535N EIF2C1_uc001bzk.2_Missense_Mutation_p.D460N|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 535 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACGTGTCGGAGATACACTCTT 0.363 NA 11 72 0 0 0 0 MRPS15 64960 broad.mit.edu 37 1 36921787 36921787 + Splice_Site SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:36921787C>G uc001cas.2 - 7 800 c.636_splice c.e7+1 p.R212_splice NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGACTCGTACCCGAATGCAC 0.552 NA 9 48 0 0 0 0 GRIK3 2899 broad.mit.edu 37 1 37271712 37271712 + Silent SNP C C T rs114469448 by1000genomes TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:37271712C>T uc001caz.2 - 14 2442 c.2307G>A c.(2305-2307)ACG>ACA p.T769T GRIK3_uc001cba.1_Silent_p.T769T NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 769 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CACCCATGGGCGTGCCGATGC 0.647 NA 12 35 0 0 0 0 HPDL 84842 broad.mit.edu 37 1 45793381 45793381 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:45793381C>T uc001cne.2 + 1 837 c.561C>T c.(559-561)TGC>TGT p.C187C NM_032756 NP_116145 Q96IR7 HPDL_HUMAN glyoxalase domain containing 1 187 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 Acute lymphoblastic leukemia(166;0.155) TGGGCTTTTGCCACTTGCCGC 0.672 NA 3 35 0 0 0 0 NASP 4678 broad.mit.edu 37 1 46073825 46073825 + Silent SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:46073825C>G uc001coi.1 + 6 1344 c.1242C>G c.(1240-1242)GTC>GTG p.V414V NASP_uc010olq.1_Silent_p.V377V|NASP_uc001coh.1_Silent_p.V416V|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Silent_p.V350V|NASP_uc001cok.1_Silent_p.V297V NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 414 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) AGGAGAAGGTCAGGGCAAAGC 0.493 NA 11 46 0 0 0 0 NRD1 4898 broad.mit.edu 37 1 52287187 52287187 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:52287187G>C uc001ctc.3 - 10 1726 c.1404C>G c.(1402-1404)TTC>TTG p.F468L NRD1_uc009vzb.2_Missense_Mutation_p.F163L|NRD1_uc001ctd.3_Missense_Mutation_p.F400L|NRD1_uc001cte.2_Missense_Mutation_p.F336L|NRD1_uc001ctf.2_Missense_Mutation_p.F400L|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.F268L NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 399 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 GTATCTGAGAGAAGATTTCAG 0.254 NA 4 33 0 0 0 0 CACHD1 57685 broad.mit.edu 37 1 64936610 64936610 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:64936610G>A uc001dbo.1 + 1 135 c.30G>A c.(28-30)GGG>GGA p.G10G NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 61 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 AGGAGCTGGGGGTCGTCACCA 0.672 NA 10 10 0 0 0 0 AMY2B 280 broad.mit.edu 37 1 104115729 104115729 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:104115729T>A uc001duq.2 + 5 976 c.360T>A c.(358-360)AAT>AAA p.N120K AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N120K|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 120 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGTCTGGTAATGCTGTGAGTG 0.408 NA 139 141 0 0 0 0 BCL9 607 broad.mit.edu 37 1 147091317 147091317 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:147091317C>T uc001epq.2 + 8 2096 c.1356C>T c.(1354-1356)TCC>TCT p.S452S BCL9_uc010ozr.1_Silent_p.S378S NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 452 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CTATGAACTCCCAGTCTGGGA 0.532 NA T IGH@|IGL@ B-ALL 12 55 0 0 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785127 149785127 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:149785127T>A uc010pbl.1 - 1 110 c.110A>T c.(109-111)AAG>ATG p.K37M HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 37 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 GTGCGGCTTCTTCACCCCGCC 0.697 NA 5 23 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152276145 152276145 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:152276145G>A uc001ezu.1 - 3 11253 c.11217C>T c.(11215-11217)CAC>CAT p.H3739H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3739 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCCTGCTCGTGGCGGGATC 0.602 NA Ichthyosis 16 363 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283117 152283117 + Silent SNP T T C rs150981235 TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:152283117T>C uc001ezu.1 - 3 4281 c.4245A>G c.(4243-4245)CAA>CAG p.Q1415Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1415 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGGGCCCAGCTTGTCCGTGGG 0.562 NA Ichthyosis 10 247 0 0 0 0 IQGAP3 128239 broad.mit.edu 37 1 156504953 156504953 + Splice_Site SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:156504953G>T uc001fpf.2 - 28 3582 c.3507_splice c.e28+1 p.K1169_splice NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GACAACACTTGCCTTATAGAC 0.507 NA 27 108 5.1e-08 5.71e-08 1 0 FCGR2A 2212 broad.mit.edu 37 1 161487824 161487824 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:161487824C>T uc001gan.2 + 7 893 c.840C>T c.(838-840)GAC>GAT p.D280D FCGR2A_uc001gam.2_Silent_p.D279D|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 280 Cytoplasmic (Potential). integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCAACAATGACTATGAAACAG 0.274 NA 28 15 0 0 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953788 161953788 + Nonsense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:161953788C>A uc001gbu.2 - 8 2354 c.1930G>T c.(1930-1932)GAG>TAG p.E644* OLFML2B_uc001gbt.2_Nonsense_Mutation_p.E127*|OLFML2B_uc010pkq.1_Nonsense_Mutation_p.E645* NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 644 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ACAATGACCTCCTGGCTGAAG 0.607 NA 38 8 2.36e-33 2.76e-33 1 0 C1orf114 57821 broad.mit.edu 37 1 169364286 169364286 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:169364286C>T uc001gga.1 - 6 1697 c.1529G>A c.(1528-1530)TGA>TAA p.*510* BLZF1_uc001gfy.2_Intron|C1orf114_uc001gfz.1_Silent_p.*509*|C1orf114_uc009wvq.1_Silent_p.*509* NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 510 0 all_hematologic(923;0.208) TAGAAACTTTCAGTTATAATG 0.348 NA 15 25 0 0 0 0 C1orf129 80133 broad.mit.edu 37 1 170967299 170967299 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:170967299C>G uc001ghg.2 + 15 1610 c.1480C>G c.(1480-1482)CTC>GTC p.L494V C1orf129_uc009wvy.2_Missense_Mutation_p.L301V|C1orf129_uc010plz.1_Missense_Mutation_p.L494V NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 494 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTACAGAACTCTCAGTGAATA 0.398 NA 37 32 0 0 0 0 DNM3 26052 broad.mit.edu 37 1 172376929 172376929 + Nonsense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:172376929C>A uc001gie.2 + 21 2716 c.2540C>A c.(2539-2541)TCA>TAA p.S847* DNM3_uc001gif.2_Nonsense_Mutation_p.S843*|DNM3_uc001gih.1_Intron|PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 853 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CCACCCCCATCACCAACTCGT 0.433 NA 66 38 2.43e-22 2.83e-22 1 0 SERPINC1 462 broad.mit.edu 37 1 173878987 173878987 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:173878987G>T uc001gjt.2 - 5 975 c.856C>A c.(856-858)CAG>AAG p.Q286K NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 286 Missing (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TTGCCTTCCTGGTACATCATA 0.522 NA 13 65 2.27e-07 2.53e-07 1 0 PPFIA4 8497 broad.mit.edu 37 1 203024771 203024771 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:203024771G>A uc001gyz.2 + 3 1116 c.523G>A c.(523-525)GAC>AAC p.D175N PPFIA4_uc009xaj.2_Missense_Mutation_p.D806N|PPFIA4_uc010pqf.1_Missense_Mutation_p.D388N|PPFIA4_uc001gza.2_Missense_Mutation_p.D175N|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 175 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 TGCTGCCCAGGACCTGGACCG 0.657 NA 9 43 0 0 0 0 REN 5972 broad.mit.edu 37 1 204124947 204124947 + Splice_Site SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:204124947C>A uc001haq.2 - 9 1103 c.1059_splice c.e9+1 p.Q353_splice NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TCGAACCTCACCTGAAATACA 0.522 NA 12 5 7.04e-09 7.97e-09 1 0 CR2 1380 broad.mit.edu 37 1 207639997 207639997 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:207639997G>A uc001hfw.2 + 2 279 c.185G>A c.(184-186)AGT>AAT p.S62N CR2_uc001hfv.2_Missense_Mutation_p.S62N|CR2_uc009xch.2_Missense_Mutation_p.S62N NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 62 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GGAGAAAAAAGTCTATTATGC 0.398 NA 24 91 0 0 0 0 URB2 9816 broad.mit.edu 37 1 229770966 229770966 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:229770966C>T uc001hts.1 + 4 742 c.606C>T c.(604-606)CTC>CTT p.L202L URB2_uc009xfd.1_Silent_p.L202L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 202 nucleolus central_nervous_system(2)|ovary(1) 3 CTCACCTGCTCCAGCCGTGCC 0.607 NA 8 61 0 0 0 0 AHCTF1 25909 broad.mit.edu 37 1 247024567 247024567 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:247024567T>C uc001ibu.1 - 28 3773 c.3766A>G c.(3766-3768)ACT>GCT p.T1256A AHCTF1_uc001ibv.1_Missense_Mutation_p.T1265A|AHCTF1_uc009xgs.1_Missense_Mutation_p.T117A|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1256 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTAGGTGTAGTAAATACTTCT 0.363 NA 9 5 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458195 248458195 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:248458195G>T uc010pzj.1 - 1 686 c.686C>A c.(685-687)ACA>AAA p.T229K NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GCGGGCTTCTGTAGAGCGCAT 0.517 NA 16 60 2.35e-11 2.69e-11 1 0 PTF1A 256297 broad.mit.edu 37 10 23481462 23481462 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:23481462G>C uc001irp.2 + 1 3 c.3G>C c.(1-3)ATG>ATC p.M1I NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 1 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 CGGCGAGCATGGACGCGGTGT 0.657 NA 8 35 0 0 0 0 ZEB1 6935 broad.mit.edu 37 10 31803553 31803553 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:31803553G>T uc001ivs.3 + 6 770 c.707G>T c.(706-708)TGT>TTT p.C236F ZEB1_uc001ivr.3_Missense_Mutation_p.C18F|ZEB1_uc010qee.1_Missense_Mutation_p.C18F|ZEB1_uc010qef.1_Missense_Mutation_p.C18F|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.C162F|ZEB1_uc010qeg.1_Missense_Mutation_p.C95F|ZEB1_uc009xlk.1_Missense_Mutation_p.C18F|ZEB1_uc001ivt.3_Missense_Mutation_p.C18F|ZEB1_uc001ivu.3_Missense_Mutation_p.C237F|ZEB1_uc001ivv.3_Missense_Mutation_p.C216F|ZEB1_uc010qeh.1_Missense_Mutation_p.C169F|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.C219F|ZEB1_uc009xlp.2_Missense_Mutation_p.C220F NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 236 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CAGTCTGGGTGTAATCGTAAA 0.328 NA 7 41 2.01e-06 2.21e-06 1 0 KIAA0913 23053 broad.mit.edu 37 10 75552009 75552009 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:75552009G>A uc009xrl.2 + 10 1744 c.1712G>A c.(1711-1713)GGA>GAA p.G571E KIAA0913_uc001jve.2_Missense_Mutation_p.G571E|KIAA0913_uc001jvf.2_Missense_Mutation_p.G571E|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_5'UTR|KIAA0913_uc010qkr.1_5'UTR|KIAA0913_uc001jvj.2_5'UTR NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 571 Gly-rich. zinc ion binding breast(1) 1 Prostate(51;0.0112) GCTGAAGGGGGAGATAAAGCT 0.652 NA 3 35 0 0 0 0 IFIT2 3433 broad.mit.edu 37 10 91066959 91066959 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:91066959C>A uc009xts.2 + 2 1421 c.1246C>A c.(1246-1248)CAA>AAA p.Q416K LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 416 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) AGACAAACTGCAAAAAATTGC 0.388 NA 23 76 9.58e-11 1.09e-10 1 0 CYP26A1 1592 broad.mit.edu 37 10 94835689 94835689 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:94835689A>G uc001kil.2 + 5 1016 c.971A>G c.(970-972)CAG>CGG p.Q324R CYP26A1_uc001kik.1_Missense_Mutation_p.Q255R|CYP26A1_uc001kim.1_Missense_Mutation_p.Q222R NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 324 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) CATGTTCTCCAGAAAGTGCGA 0.512 NA 21 18 0 0 0 0 ACSL5 51703 broad.mit.edu 37 10 114177625 114177625 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:114177625C>A uc001kzs.2 + 14 1381 c.1240C>A c.(1240-1242)CGT>AGT p.R414S ACSL5_uc001kzt.2_Missense_Mutation_p.R414S|ACSL5_uc001kzu.2_Missense_Mutation_p.R470S|ACSL5_uc009xxz.2_Missense_Mutation_p.R414S|ACSL5_uc010qrj.1_Missense_Mutation_p.R196S NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 414 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CGGAAGGGTTCGTGTAATTGT 0.383 NA 31 25 3.87e-22 4.5e-22 1 0 DMBT1 1755 broad.mit.edu 37 10 124336113 124336113 + Nonsense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr10:124336113C>A uc001lgk.1 + 7 588 c.482C>A c.(481-483)TCA>TAA p.S161* DMBT1_uc001lgl.1_Nonsense_Mutation_p.S161*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.S161*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.S161*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.S161*|DMBT1_uc009yaa.1_Nonsense_Mutation_p.S13* NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 161 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGCCAGGGCTCAGGACCCATT 0.592 NA 35 92 2e-19 2.31e-19 1 0 PHRF1 57661 broad.mit.edu 37 11 607244 607244 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:607244G>A uc001lqe.2 + 14 1919 c.1788G>A c.(1786-1788)GCG>GCA p.A596A PHRF1_uc010qwc.1_Silent_p.A595A|PHRF1_uc010qwd.1_Silent_p.A594A|PHRF1_uc010qwe.1_Silent_p.A592A|PHRF1_uc009ybz.1_Silent_p.A386A|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 596 RNA polymerase binding|zinc ion binding 0 CCCGCACCGCGGGGGCGCCTG 0.692 NA 14 44 0 0 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606411 1606411 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:1606411G>A uc001ltu.1 - 1 103 c.69C>T c.(67-69)GGC>GGT p.G23G LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 23 keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGAGCCACAGCCCCCACAGC 0.677 NA 6 98 0 0 0 0 OR51M1 390059 broad.mit.edu 37 11 5410918 5410918 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:5410918T>C uc010qzc.1 + 1 290 c.290T>C c.(289-291)TTC>TCC p.F97S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 97 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGGGATCTTCTGGTTTAAC 0.502 NA 33 82 0 0 0 0 CCKBR 887 broad.mit.edu 37 11 6292427 6292427 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:6292427G>A uc001mcp.2 + 5 1191 c.998G>A c.(997-999)CGA>CAA p.R333Q CCKBR_uc001mcq.2_Missense_Mutation_p.R261Q|CCKBR_uc001mcr.2_Missense_Mutation_p.R333Q|CCKBR_uc001mcs.2_Missense_Mutation_p.R402Q|CCKBR_uc001mct.1_RNA NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 333 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CGCGTGGTGCGAATGTTGCTG 0.632 NA 6 37 0 0 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17122958 17122958 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:17122958G>A uc001mmq.3 - 24 3941 c.3875C>T c.(3874-3876)ACC>ATC p.T1292I PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.T912I|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1292 PI3K/PI4K. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) CATATCAGAGGTCAGCACAAA 0.373 NA 7 32 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 20907084 20907084 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:20907084A>G uc001mqe.2 + 5 754 c.601A>G c.(601-603)AAA>GAA p.K201E NELL1_uc001mqf.2_Missense_Mutation_p.K201E|NELL1_uc009yid.2_Missense_Mutation_p.K229E|NELL1_uc010rdo.1_Missense_Mutation_p.K144E|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 201 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TGGCTTATTCAAAGTAAGCAC 0.393 NA 13 26 0 0 0 0 OR4C46 119749 broad.mit.edu 37 11 51515583 51515583 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:51515583G>A uc010ric.1 + 1 302 c.302G>A c.(301-303)GGA>GAA p.G101E NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAAGTCTTTGGAGAACATTTC 0.463 NA 21 69 0 0 0 0 OR5F1 338674 broad.mit.edu 37 11 55761812 55761812 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:55761812C>A uc010riv.1 - 1 290 c.290G>T c.(289-291)TGC>TTC p.C97F NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CTGTAGGAAGCAGCCAGCAAA 0.473 NA 23 67 1.43e-11 1.64e-11 1 0 DAK 26007 broad.mit.edu 37 11 61110820 61110820 + Missense_Mutation SNP G G A rs142716350 byFrequency TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:61110820G>A uc001nre.2 + 11 1129 c.872G>A c.(871-873)CGC>CAC p.R291H DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.R221H NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 291 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 GCAGAGGGCCGCGGGGTGAAG 0.562 NA 22 61 0 0 0 0 LTBP3 4054 broad.mit.edu 37 11 65308358 65308358 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:65308358G>A uc001oej.2 - 21 3230 c.2961C>T c.(2959-2961)GGC>GGT p.G987G LTBP3_uc001oef.2_5'UTR|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Silent_p.G417G|LTBP3_uc010roi.1_Silent_p.G870G|LTBP3_uc001oei.2_Silent_p.G987G|LTBP3_uc010roj.1_Silent_p.G688G|LTBP3_uc010rok.1_Silent_p.G898G NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 987 extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 GGGCTGGGATGCCGTAGTTGA 0.706 NA OREG0021080 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 6 0 0 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350494 65350494 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:65350494C>T uc001oeo.3 + 9 2616 c.2351C>T c.(2350-2352)TCA>TTA p.S784L EHBP1L1_uc001oep.1_Intron NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 784 Glu-rich. central_nervous_system(1) 1 TCTAGGGATTCAGGGGTCCCA 0.542 NA 8 27 0 0 0 0 KDM2A 22992 broad.mit.edu 37 11 66888812 66888812 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:66888812C>T uc001ojw.2 + 2 889 c.25C>T c.(25-27)CGT>TGT p.R9C KDM2A_uc001ojx.2_RNA NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 AGAAAGGATTCGTTACAGCCA 0.423 NA 8 23 0 0 0 0 ALDH3B1 221 broad.mit.edu 37 11 67789312 67789312 + Nonsense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:67789312C>T uc010rpy.1 + 9 1038 c.922C>T c.(922-924)CAG>TAG p.Q308* ALDH3B1_uc001omz.2_Nonsense_Mutation_p.Q308*|ALDH3B1_uc001ona.2_Nonsense_Mutation_p.Q271*|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 308 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) CATTGGGGGCCAGAGCGATGA 0.662 NA 13 37 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70171106 70171106 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:70171106C>G uc001opo.2 + 4 718 c.520C>G c.(520-522)CTG>GTG p.L174V PPFIA1_uc001opn.1_Missense_Mutation_p.L174V|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 174 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CCACAAAGCTCTGGATGAAAA 0.473 NA 16 341 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70176374 70176374 + Silent SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:70176374C>G uc001opo.2 + 8 1224 c.1026C>G c.(1024-1026)CTC>CTG p.L342L PPFIA1_uc001opn.1_Silent_p.L342L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 342 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGCATGACCTCAATGATAAAC 0.383 NA 12 296 0 0 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832997 101832997 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:101832997G>A uc001pgm.2 + 6 1501 c.1231G>A c.(1231-1233)GAG>AAG p.E411K KIAA1377_uc001pgn.2_Missense_Mutation_p.E367K|KIAA1377_uc010run.1_Missense_Mutation_p.E212K|KIAA1377_uc009yxa.1_Missense_Mutation_p.E212K NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 411 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) ATTAGTTACTGAGAGCCCAAC 0.378 NA 8 174 0 0 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1889776 1889776 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:1889776C>T uc001qjm.2 + 5 820 c.623C>T c.(622-624)TCA>TTA p.S208L ADIPOR2_uc001qjn.2_Missense_Mutation_p.S208L NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 208 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) TACTGCCACTCAGAGGGGGTC 0.458 NA 28 176 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6128892 6128892 + Missense_Mutation SNP T T G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:6128892T>G uc001qnn.1 - 28 3942 c.3692A>C c.(3691-3693)AAC>ACC p.N1231T VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1231 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) ACAGGTGAGGTTGACAACATC 0.542 NA 4 19 0 0 0 0 CD163 9332 broad.mit.edu 37 12 7649555 7649555 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:7649555C>G uc001qsz.3 - 5 1081 c.953G>C c.(952-954)CGA>CCA p.R318P CD163_uc001qta.3_Missense_Mutation_p.R318P|CD163_uc009zfw.2_Missense_Mutation_p.R318P NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 318 SRCR 3.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GGCGTTAACTCGACCAATGGC 0.517 NA 35 34 0 0 0 0 C3AR1 719 broad.mit.edu 37 12 8211882 8211882 + Silent SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:8211882A>T uc001qtv.1 - 2 992 c.900T>A c.(898-900)GCT>GCA p.A300A NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 300 Extracellular (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) AATTGCTAGAAGCGCTAGGGA 0.448 NA 34 64 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 21998701 21998702 + Missense_Mutation DNP GC GC TT TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:21998701_21998702GC>TT uc001rfi.1 - 24 2951_2952 c.2931_2932GC>AA c.(2929-2934)ATGCCA>ATAACA p.977_978MP>IT ABCC9_uc001rfh.2_Missense_Mutation_p.977_978MP>IT|ABCC9_uc001rfj.1_Missense_Mutation_p.941_942MP>IT NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 977_978 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTTTTCCATGGCATTTTAGTCC 0.421 NA 9 46 0 0 0 0 TMTC1 83857 broad.mit.edu 37 12 29689237 29689237 + Missense_Mutation SNP T T G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:29689237T>G uc001rjb.2 - 11 1840 c.1366A>C c.(1366-1368)AAG>CAG p.K456Q TMTC1_uc001riz.2_Missense_Mutation_p.K213Q|TMTC1_uc001rja.2_Missense_Mutation_p.K300Q|TMTC1_uc001rjc.1_Missense_Mutation_p.K518Q NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 564 TPR 3. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GCTTCTTCCTTTTTCTCCTGG 0.378 NA 38 52 0 0 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48143226 48143226 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:48143226C>T uc009zkp.2 - 9 1302 c.862G>A c.(862-864)GAC>AAC p.D288N RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.D288N|RAPGEF3_uc001rpz.3_Missense_Mutation_p.D330N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.D342N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.D330N NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 288 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TGACAGTTGTCTTCTCGCAGG 0.582 NA 6 50 0 0 0 0 GLI1 2735 broad.mit.edu 37 12 57858517 57858517 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:57858517C>G uc001snx.2 + 4 333 c.255C>G c.(253-255)ATC>ATG p.I85M GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Translation_Start_Site|GLI1_uc009zpr.1_RNA NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 85 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CACTGTCCATCTCACCTCTGT 0.587 NA 12 33 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85500352 85500352 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:85500352G>T uc001tac.2 + 15 3447 c.3336G>T c.(3334-3336)TTG>TTT p.L1112F LRRIQ1_uc001tab.1_Missense_Mutation_p.L1112F NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1112 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TCCATGAATTGTCTCTTACTG 0.338 NA 8 49 0.000157383 0.000168048 1 0 UTP20 27340 broad.mit.edu 37 12 101685601 101685601 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:101685601A>G uc001tia.1 + 9 1129 c.973A>G c.(973-975)ACA>GCA p.T325A NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 325 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GTTGTTGGAAACATACCTTAT 0.383 NA 7 20 0 0 0 0 NUAK1 9891 broad.mit.edu 37 12 106461427 106461427 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:106461427G>A uc001tlj.1 - 7 2519 c.1139C>T c.(1138-1140)TCT>TTT p.S380F NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 380 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 ATCCTGACCAGACTGAGCAAA 0.542 NA 26 65 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23945292 23945292 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr13:23945292T>A uc001uon.2 - 4 773 c.184A>T c.(184-186)ATC>TTC p.I62F SACS_uc001uoo.2_Intron|SACS_uc001uoq.1_5'Flank NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 62 Ubiquitin-like. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCAATCTTGATCCAGTCAGAT 0.303 NA 9 21 0 0 0 0 NBEA 26960 broad.mit.edu 37 13 35517144 35517144 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr13:35517144C>G uc001uvb.2 + 2 393 c.187C>G c.(187-189)CCT>GCT p.P63A NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 63 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GATGATTAACCCTTCGGTGCC 0.498 NA 9 16 0 0 0 0 ZC3H13 23091 broad.mit.edu 37 13 46563012 46563012 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr13:46563012G>C uc010tfw.1 - 8 1171 c.1165C>G c.(1165-1167)CCA>GCA p.P389A ZC3H13_uc001vas.1_Missense_Mutation_p.P389A|ZC3H13_uc001vat.1_Missense_Mutation_p.P389A NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 389 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CGATGTCTTGGAGGACTCTGC 0.493 NA 7 23 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109438041 109438041 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr13:109438041T>C uc001vqt.1 + 5 626 c.500T>C c.(499-501)GTA>GCA p.V167A MYO16_uc010agk.1_Missense_Mutation_p.V189A NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 167 ANK 4. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GATTATGCTGTAGAAGGGACA 0.343 NA 21 24 0 0 0 0 MCF2L 23263 broad.mit.edu 37 13 113748882 113748882 + Nonsense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr13:113748882C>G uc001vsu.2 + 27 3201 c.3179C>G c.(3178-3180)TCA>TGA p.S1060* MCF2L_uc001vsq.2_Nonsense_Mutation_p.S1060*|MCF2L_uc010tjr.1_Nonsense_Mutation_p.S1003*|MCF2L_uc001vsr.2_Nonsense_Mutation_p.S1007*|MCF2L_uc010tjs.1_Nonsense_Mutation_p.S1001* NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 1033 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GGGGGCTGGTCAAGTGCAGAG 0.632 NA 7 16 0 0 0 0 ACIN1 22985 broad.mit.edu 37 14 23548865 23548865 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:23548865C>T uc001wit.3 - 6 2181 c.1853G>A c.(1852-1854)CGT>CAT p.R618H ACIN1_uc001wis.3_Missense_Mutation_p.R300H|ACIN1_uc010akg.2_Missense_Mutation_p.R618H|ACIN1_uc010tnj.1_Missense_Mutation_p.R578H NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 618 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGCATGAGTACGTGCCTGGGC 0.522 NA 25 107 0 0 0 0 LRRC16B 90668 broad.mit.edu 37 14 24531703 24531703 + Nonsense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:24531703C>G uc001wlj.2 + 28 2652 c.2495C>G c.(2494-2496)TCA>TGA p.S832* LRRC16B_uc001wlk.2_5'UTR NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 832 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) GTGAAGCTCTCAGTCGTCACC 0.572 NA 28 110 0 0 0 0 STXBP6 29091 broad.mit.edu 37 14 25288333 25288333 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:25288333C>G uc001wpu.2 - 5 1234 c.519G>C c.(517-519)TTG>TTC p.L173F STXBP6_uc001wpv.2_Missense_Mutation_p.L173F|STXBP6_uc001wpw.2_Missense_Mutation_p.L173F|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.L71F NM_014178 NP_054897 Q8NFX7 STXB6_HUMAN amisyn 173 v-SNARE coiled-coil homology. vesicle-mediated transport cytoplasm|integral to membrane 0 GBM - Glioblastoma multiforme(265;0.0296) CACGCTCATTCAAGGCCTGGC 0.562 NA 5 88 0 0 0 0 MUDENG 55745 broad.mit.edu 37 14 57749862 57749862 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:57749862C>T uc001xcv.2 + 6 1634 c.1207C>T c.(1207-1209)CTT>TTT p.L403F MUDENG_uc010tri.1_Missense_Mutation_p.L157F|MUDENG_uc010trj.1_Missense_Mutation_p.L300F NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 403 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 GGAAATTAGTCTTTCTGGAAC 0.318 NA 8 39 0 0 0 0 TRMT5 57570 broad.mit.edu 37 14 61444232 61444232 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:61444232C>A uc001xff.3 - 3 883 c.792G>T c.(790-792)AAG>AAT p.K264N NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 264 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TAAAATATACCTTTGTCATCA 0.249 NA 8 64 7.48e-07 8.29e-07 1 0 SYNE2 23224 broad.mit.edu 37 14 64595181 64595181 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:64595181G>T uc001xgm.2 + 74 14159 c.13929G>T c.(13927-13929)AAG>AAT p.K4643N SYNE2_uc001xgl.2_Missense_Mutation_p.K4643N|SYNE2_uc010apy.2_Missense_Mutation_p.K1028N|SYNE2_uc010apz.1_Missense_Mutation_p.K535N NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4643 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATGAAATAAAGAGATTATATC 0.289 NA 7 49 0.000157383 0.000168048 1 0 SYNE2 23224 broad.mit.edu 37 14 64595183 64595183 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:64595183G>A uc001xgm.2 + 74 14161 c.13931G>A c.(13930-13932)AGA>AAA p.R4644K SYNE2_uc001xgl.2_Missense_Mutation_p.R4644K|SYNE2_uc010apy.2_Missense_Mutation_p.R1029K|SYNE2_uc010apz.1_Missense_Mutation_p.R536K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4644 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAAATAAAGAGATTATATCAT 0.294 NA 7 47 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64596835 64596835 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:64596835G>A uc001xgm.2 + 76 14439 c.14209G>A c.(14209-14211)GAG>AAG p.E4737K SYNE2_uc001xgl.2_Missense_Mutation_p.E4737K|SYNE2_uc010apy.2_Missense_Mutation_p.E1122K|SYNE2_uc010apz.1_Missense_Mutation_p.E629K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4737 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTTCGTCACTGAGAGCCAGCA 0.468 NA 4 32 0 0 0 0 TTC7B 145567 broad.mit.edu 37 14 91142901 91142901 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr14:91142901A>G uc001xyp.2 - 9 1240 c.1118T>C c.(1117-1119)CTT>CCT p.L373P TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 373 TPR 3. binding ovary(2) 2 Melanoma(154;0.222) TCTTCTTCCAAGAGCAATGGT 0.547 NA 11 68 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890759 23890759 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:23890759C>T uc001ywj.3 - 1 417 c.322G>A c.(322-324)GCT>ACT p.A108T NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AATGATTTAGCGGAGCCCAGG 0.632 NA 4 7 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33927944 33927944 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:33927944G>A uc001zhi.2 + 26 3375 c.3305G>A c.(3304-3306)GGC>GAC p.G1102D RYR3_uc010bar.2_Missense_Mutation_p.G1102D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1102 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATGCGAGTCGGCTGGGCGAGG 0.507 NA 7 14 0 0 0 0 PAK6 56924 broad.mit.edu 37 15 40568201 40568201 + Missense_Mutation SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:40568201A>T uc010bbl.2 + 11 2392 c.1952A>T c.(1951-1953)GAG>GTG p.E651V PAK6_uc010bbm.2_Missense_Mutation_p.E651V|PAK6_uc001zky.3_Missense_Mutation_p.E606V|PAK6_uc010bbn.2_Missense_Mutation_p.E651V|PAK6_uc001zlb.2_Missense_Mutation_p.E651V NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 651 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) ACAGCCCAGGAGCTCCTAGAC 0.627 NA 17 57 0 0 0 0 UBR1 197131 broad.mit.edu 37 15 43346982 43346982 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:43346982T>A uc001zqq.2 - 12 1463 c.1397A>T c.(1396-1398)CAG>CTG p.Q466L UBR1_uc010udk.1_Missense_Mutation_p.Q466L NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 466 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CAATTTGTCCTGGCTATAACC 0.388 NA 29 49 0 0 0 0 DUOX1 53905 broad.mit.edu 37 15 45455880 45455880 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:45455880A>G uc001zus.1 + 33 4745 c.4399A>G c.(4399-4401)ATG>GTG p.M1467V DUOX1_uc001zut.1_Missense_Mutation_p.M1467V|DUOX1_uc010bee.1_Missense_Mutation_p.M847V NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1467 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CAGGACCACTATGCTGGTATG 0.562 NA OREG0023103 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 69 0 0 0 0 MYO5C 55930 broad.mit.edu 37 15 52531989 52531989 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:52531989C>A uc010bff.2 - 21 2781 c.2644G>T c.(2644-2646)GTG>TTG p.V882L MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 882 IQ 5. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) ATATTAAGCACGAATCGTCGG 0.438 NA 13 60 2.27e-07 2.53e-07 1 0 CCPG1 9236 broad.mit.edu 37 15 55677908 55677908 + Nonsense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:55677908G>T uc002acv.1 - 3 230 c.65C>A c.(64-66)TCA>TAA p.S22* CCPG1_uc002acy.2_Nonsense_Mutation_p.S22*|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Nonsense_Mutation_p.S22*|CCPG1_uc010bfk.1_Nonsense_Mutation_p.S22*|CCPG1_uc002acz.1_Nonsense_Mutation_p.S22* NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 22 Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) TTCTATATCTGACCCCTAAGG 0.403 NA 9 14 1.13e-05 1.23e-05 1 0 VPS13C 54832 broad.mit.edu 37 15 62254026 62254026 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:62254026T>C uc002agz.2 - 35 3744 c.3670A>G c.(3670-3672)AGG>GGG p.R1224G VPS13C_uc002aha.2_Missense_Mutation_p.R1181G|VPS13C_uc002ahb.1_Missense_Mutation_p.R1224G|VPS13C_uc002ahc.1_Missense_Mutation_p.R1181G NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1224 protein localization ovary(2) 2 GTGGCAGCCCTTTCTGCAGCC 0.438 NA 19 54 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65490630 65490630 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:65490630C>G uc002aon.2 - 9 2175 c.1994G>C c.(1993-1995)AGA>ACA p.R665T NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 665 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GACCTCATCTCTGAAGTCCAC 0.512 NA 14 58 0 0 0 0 LRRC49 54839 broad.mit.edu 37 15 71197029 71197029 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:71197029G>C uc002asw.2 + 5 682 c.435G>C c.(433-435)CAG>CAC p.Q145H LRRC49_uc002asu.2_Missense_Mutation_p.Q135H|LRRC49_uc002asx.2_Missense_Mutation_p.Q101H|LRRC49_uc010ukf.1_Missense_Mutation_p.Q150H|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.Q117H NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 145 LRR 2. cytoplasm|microtubule ovary(1) 1 ATGATAACCAGATTGAAGAAA 0.348 NA 32 99 0 0 0 0 C15orf39 56905 broad.mit.edu 37 15 75501034 75501034 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:75501034G>A uc002azp.3 + 2 2965 c.2645G>A c.(2644-2646)CGG>CAG p.R882Q C15orf39_uc002azq.3_Missense_Mutation_p.R882Q|C15orf39_uc002azr.3_Missense_Mutation_p.R280Q NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 882 0 TCGGAGGAGCGGGCACTGCGG 0.672 NA 5 9 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81575048 81575048 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:81575048G>A uc002bgh.3 + 9 1526 c.1150G>A c.(1150-1152)GTC>ATC p.V384I IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.V384I|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.V426I|IL16_uc002bgg.2_Missense_Mutation_p.V384I|IL16_uc002bgi.1_5'UTR NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 384 PDZ 2.|Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TGGCATTTTCGTCCACACGCT 0.597 NA 34 123 0 0 0 0 BNC1 646 broad.mit.edu 37 15 83926268 83926268 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:83926268G>A uc002bjt.1 - 5 2999 c.2911C>T c.(2911-2913)CGC>TGC p.R971C BNC1_uc010uos.1_Missense_Mutation_p.R959C NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 971 C2H2-type 6. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTTCGACTGCGAACAGACGAA 0.507 NA 59 45 0 0 0 0 AKAP13 11214 broad.mit.edu 37 15 86286764 86286764 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr15:86286764C>G uc002blv.1 + 36 8270 c.8100C>G c.(8098-8100)TTC>TTG p.F2700L AKAP13_uc002blu.1_Missense_Mutation_p.F2704L|AKAP13_uc002blw.1_Missense_Mutation_p.F1165L|AKAP13_uc002blx.1_Missense_Mutation_p.F945L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2700 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TCCCATCGTTCTTCCCCAGTC 0.517 NA 8 58 0 0 0 0 CLCN7 1186 broad.mit.edu 37 16 1498432 1498432 + Missense_Mutation SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:1498432A>T uc002clv.2 - 21 2047 c.1937T>A c.(1936-1938)GTC>GAC p.V646D CLCN7_uc010brq.1_Missense_Mutation_p.V16D|CLCN7_uc002clu.2_Missense_Mutation_p.V94D|CLCN7_uc002clw.2_Missense_Mutation_p.V622D NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 646 Cytoplasmic (By similarity).|CBS 1. integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) GTCCACAATGACGCCGACCTT 0.652 NA 12 24 0 0 0 0 NTN3 4917 broad.mit.edu 37 16 2522335 2522335 + Silent SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:2522335C>G uc002cqj.2 + 1 836 c.633C>G c.(631-633)CTC>CTG p.L211L TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank NM_006181 NP_006172 O00634 NET3_HUMAN netrin 3 precursor 211 Laminin N-terminal. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix central_nervous_system(1) 1 GCCCAGTGCTCCAAGACTGGG 0.672 NA 4 22 0 0 0 0 IQCK 124152 broad.mit.edu 37 16 19838428 19838428 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:19838428C>T uc002dgr.2 + 9 1470 c.771C>T c.(769-771)GTC>GTT p.V257V IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.S229L|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Silent_p.V169V NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN IQ motif containing K 257 skin(1) 1 ACCAGCAAGTCAAAATTTTCT 0.443 NA 7 40 0 0 0 0 LCMT1 51451 broad.mit.edu 37 16 25175987 25175987 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:25175987T>A uc002dnx.1 + 7 796 c.638T>A c.(637-639)CTG>CAG p.L213Q LCMT1_uc002dny.1_Missense_Mutation_p.L158Q|LCMT1_uc002dnz.1_Missense_Mutation_p.L113Q|LCMT1_uc002doa.1_Missense_Mutation_p.L58Q NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 213 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) GCAAACCTCCTGAAGTGGGCA 0.448 NA 9 44 0 0 0 0 IL4R 3566 broad.mit.edu 37 16 27363876 27363876 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:27363876G>A uc002don.2 + 7 771 c.529G>A c.(529-531)GTG>ATG p.V177M IL4R_uc002dom.2_Missense_Mutation_p.V177M|IL4R_uc002dop.3_Missense_Mutation_p.V162M|IL4R_uc010bxy.2_Missense_Mutation_p.V177M|IL4R_uc002doo.2_Missense_Mutation_p.V17M NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 177 Extracellular (Potential).|Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 AATCTATAACGTGACCTACCT 0.592 NA 18 60 0 0 0 0 ATXN2L 11273 broad.mit.edu 37 16 28847379 28847379 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:28847379G>A uc002drc.2 + 22 3189 c.3021G>A c.(3019-3021)CAG>CAA p.Q1007Q uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.Q1007Q|ATXN2L_uc002dqy.2_Silent_p.Q1007Q|ATXN2L_uc002dra.2_Silent_p.Q1007Q|ATXN2L_uc002dqz.2_Silent_p.Q1007Q|ATXN2L_uc010vdb.1_Silent_p.Q1013Q|ATXN2L_uc002dre.2_Silent_p.Q1007Q|ATXN2L_uc002drf.2_Silent_p.Q416Q|ATXN2L_uc002drg.2_Silent_p.Q290Q NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 1007 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CGGTGCCCCAGAGTGGGGTGC 0.706 NA 23 91 0 0 0 0 TOX3 27324 broad.mit.edu 37 16 52473778 52473778 + Nonsense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:52473778G>A uc002egw.2 - 7 1261 c.1090C>T c.(1090-1092)CAA>TAA p.Q364* TOX3_uc010vgt.1_Nonsense_Mutation_p.Q359*|TOX3_uc010vgu.1_Nonsense_Mutation_p.Q364* NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 364 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 GTTCCATGTTGAGACAGTGGA 0.527 NA 12 75 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58589282 58589282 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:58589282C>T uc002env.2 - 21 3057 c.2764G>A c.(2764-2766)GAG>AAG p.E922K CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E917K|CNOT1_uc002enx.2_Missense_Mutation_p.E922K|CNOT1_uc002enz.1_Missense_Mutation_p.E351K NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 922 E -> G (in Ref. 1; ABQ66268). nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGTCCTTTCTCAATTATACCA 0.388 NA 28 90 0 0 0 0 HSF4 3299 broad.mit.edu 37 16 67203679 67203679 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:67203679C>T uc002erl.1 + 15 2435 c.1470C>T c.(1468-1470)CCC>CCT p.P490P HSF4_uc002erm.1_Silent_p.P460P|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA|NOL3_uc010vjc.1_5'Flank NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 490 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) AAGCCAGTCCCTCCCCCTAAG 0.662 NA OREG0023873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 47 0 0 0 0 FAM65A 79567 broad.mit.edu 37 16 67574260 67574260 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:67574260A>G uc010vjp.1 + 8 781 c.685A>G c.(685-687)ATG>GTG p.M229V FAM65A_uc010cei.1_Missense_Mutation_p.M51V|FAM65A_uc002eth.2_Missense_Mutation_p.M209V|FAM65A_uc010cej.2_Missense_Mutation_p.M212V|FAM65A_uc002eti.1_Missense_Mutation_p.M172V|FAM65A_uc010vjq.1_Missense_Mutation_p.M223V|FAM65A_uc002etj.1_Missense_Mutation_p.M208V|FAM65A_uc002etk.2_Missense_Mutation_p.M208V NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 213 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) TCATCTCCGAATGAAAGGTAC 0.612 NA 15 40 0 0 0 0 SF3B3 23450 broad.mit.edu 37 16 70575647 70575647 + Silent SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:70575647A>G uc002ezf.2 + 9 1354 c.1143A>G c.(1141-1143)GAA>GAG p.E381E NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 381 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CTCTGGAAGAAGGAGACACAT 0.448 NA 36 99 0 0 0 0 SSH2 85464 broad.mit.edu 37 17 27963169 27963169 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:27963169G>A uc002heo.1 - 14 1998 c.1998C>T c.(1996-1998)ACC>ACT p.T666T SSH2_uc010wbh.1_Silent_p.T693T NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 666 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 ATCGTGACCGGGTTTCTTGGG 0.493 NA 42 54 0 0 0 0 EFCAB5 374786 broad.mit.edu 37 17 28296203 28296203 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:28296203G>A uc002het.2 + 4 777 c.585G>A c.(583-585)AAG>AAA p.K195K EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Silent_p.K139K|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.K74K|EFCAB5_uc010csf.2_Silent_p.K74K NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 195 calcium ion binding ovary(1)|skin(1) 2 AAGTAGAAAAGAAGAAGGTTT 0.343 NA 7 27 0 0 0 0 C17orf53 78995 broad.mit.edu 37 17 42228331 42228331 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:42228331G>A uc002ifi.1 + 4 1412 c.1227G>A c.(1225-1227)CAG>CAA p.Q409Q C17orf53_uc010czq.1_Silent_p.Q409Q|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 409 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CCTCTTAGCAGAGTGGGAGAA 0.453 NA 3 20 0 0 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241498 47241498 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:47241498G>A uc002ion.2 + 8 1054 c.995G>A c.(994-996)CGC>CAC p.R332H B4GALNT2_uc010wlt.1_Missense_Mutation_p.R246H|B4GALNT2_uc010wlu.1_Missense_Mutation_p.R272H NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 332 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) ACTTTCCTCCGCCCCCACAAG 0.502 NA 60 97 0 0 0 0 GPR142 350383 broad.mit.edu 37 17 72367969 72367969 + Nonsense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:72367969C>T uc010wqy.1 + 4 619 c.619C>T c.(619-621)CAG>TAG p.Q207* GPR142_uc010wqx.1_Nonsense_Mutation_p.Q119* NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 207 Helical; Name=2; (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TATCATCATCCAGGTGGTCAT 0.657 NA 10 11 0 0 0 0 THOC4 10189 broad.mit.edu 37 17 79846187 79846187 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:79846187G>A uc002kbu.2 - 5 716 c.710C>T c.(709-711)GCC>GTC p.A237V NM_005782 NP_005773 Q86V81 THOC4_HUMAN THO complex 4 230 Ala/Arg/Gly-rich. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ATTCCTGCCGGCACCTCTGCC 0.647 NA 16 14 0 0 0 0 ESCO1 114799 broad.mit.edu 37 18 19153946 19153946 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr18:19153946G>C uc002kth.1 - 4 1793 c.859C>G c.(859-861)CAA>GAA p.Q287E ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 287 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 TTATCACTTTGTTCAGGCACT 0.423 NA 23 59 0 0 0 0 UHRF1 29128 broad.mit.edu 37 19 4960672 4960672 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:4960672G>A uc002mbo.2 + 19 2408 c.2240G>A c.(2239-2241)TGC>TAC p.C747Y UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.C760Y NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 747 RING-type. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TTACAGGACTGCCTGGACAGA 0.597 NA 6 18 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9047546 9047546 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:9047546G>A uc002mkp.2 - 5 34289 c.34085C>T c.(34084-34086)CCC>CTC p.P11362L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11364 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 GGTTGTCCTGGGAACTGTTGT 0.488 NA 33 149 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9049324 9049324 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:9049324G>A uc002mkp.2 - 5 32511 c.32307C>T c.(32305-32307)GTC>GTT p.V10769V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10771 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 CAGGATGGGTGACTAATGAGG 0.483 NA 14 97 0 0 0 0 OR7A5 26659 broad.mit.edu 37 19 14938380 14938380 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:14938380A>G uc002mzw.2 - 1 897 c.674T>C c.(673-675)ATA>ACA p.I225T OR7A5_uc010xoa.1_Missense_Mutation_p.I225T NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 GATTGCATGTATGGAAGAAAT 0.443 NA 16 62 0 0 0 0 BRD4 23476 broad.mit.edu 37 19 15349769 15349769 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:15349769G>A uc002nar.2 - 19 4027 c.3805C>T c.(3805-3807)CTG>TTG p.L1269L NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1269 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCCTGCTCCAGCGCATCCTCG 0.512 NA T NUT|C15orf55 lethal midline carcinoma of young people 3 7 0 0 0 0 BRD4 23476 broad.mit.edu 37 19 15350615 15350615 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:15350615G>A uc002nar.2 - 16 3522 c.3300C>T c.(3298-3300)TCC>TCT p.S1100S NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1100 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCTGGACCACGGAGGCAGCAC 0.706 NA T NUT|C15orf55 lethal midline carcinoma of young people 21 38 0 0 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35516979 35516979 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:35516979C>T uc010xse.1 + 20 2246 c.2109C>T c.(2107-2109)CAC>CAT p.H703H GRAMD1A_uc002nxk.2_Silent_p.H692H|GRAMD1A_uc002nxl.2_Silent_p.H465H|GRAMD1A_uc010xsf.1_Silent_p.H704H|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.H314H NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 703 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGAAGCTGCACCAAGGCATCA 0.647 NA 7 25 0 0 0 0 SUPT5H 6829 broad.mit.edu 37 19 39957129 39957129 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:39957129G>A uc002olo.3 + 12 1065 c.886G>A c.(886-888)GTG>ATG p.V296M SUPT5H_uc002olp.3_Missense_Mutation_p.V296M|SUPT5H_uc002olq.3_Missense_Mutation_p.V292M|SUPT5H_uc002oln.3_Missense_Mutation_p.V296M|SUPT5H_uc002olr.3_Missense_Mutation_p.V296M|SUPT5H_uc002ols.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 296 KOW 1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGTGGACTACGTGGAGCCCAG 0.592 NA 13 26 0 0 0 0 TOMM40 10452 broad.mit.edu 37 19 45395690 45395690 + Silent SNP C C A rs142332544 by1000genomes TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:45395690C>A uc002ozx.3 + 3 416 c.315C>A c.(313-315)GTC>GTA p.V105V TOMM40_uc002ozy.3_Silent_p.V105V|TOMM40_uc002paa.3_Silent_p.V105V|TOMM40_uc002ozz.2_Silent_p.V105V NM_006114 NP_006105 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 105 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) AGCTCACAGTCAACAAAGGGT 0.552 NA 10 59 0.00010058 0.000108388 1 0 RELB 5971 broad.mit.edu 37 19 45540982 45540982 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:45540982C>T uc002paj.1 + 13 1800 c.1674C>T c.(1672-1674)TTC>TTT p.F558F SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank NM_006509 NP_006500 Q01201 RELB_HUMAN reticuloendotheliosis viral oncogene homolog B 558 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GCAACATGTTCCCCAATCATT 0.697 NA 5 33 0 0 0 0 CPT1C 126129 broad.mit.edu 37 19 50212082 50212082 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:50212082G>C uc002ppj.2 + 13 1757 c.1552G>C c.(1552-1554)GAC>CAC p.D518H CPT1C_uc002ppl.3_Missense_Mutation_p.D484H|CPT1C_uc002ppi.2_Missense_Mutation_p.D435H|CPT1C_uc002ppk.2_Missense_Mutation_p.D507H|CPT1C_uc010eng.2_Missense_Mutation_p.D518H|CPT1C_uc010enh.2_Missense_Mutation_p.D518H|CPT1C_uc010ybc.1_Missense_Mutation_p.D389H|CPT1C_uc010eni.1_Missense_Mutation_p.D175H NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 518 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GCTGCAATGGGACCTTCCAGA 0.478 NA 15 39 0 0 0 0 ZNF701 55762 broad.mit.edu 37 19 53086538 53086538 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:53086538G>C uc002pzs.1 + 4 1353 c.1226G>C c.(1225-1227)CGT>CCT p.R409P ZNF701_uc010ydn.1_Missense_Mutation_p.R475P NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) GGAGAGAAACGTTACAAGTGT 0.373 NA 5 41 0 0 0 0 ZNF83 55769 broad.mit.edu 37 19 53116465 53116465 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:53116465G>T uc002pzu.3 - 2 2597 c.1353C>A c.(1351-1353)CAC>CAA p.H451Q ZNF83_uc002pzv.3_Missense_Mutation_p.H451Q|ZNF83_uc010eps.2_Missense_Mutation_p.H423Q|ZNF83_uc010ept.2_Missense_Mutation_p.H451Q|ZNF83_uc010epu.2_Missense_Mutation_p.H451Q|ZNF83_uc010epv.2_Missense_Mutation_p.H451Q|ZNF83_uc010epw.2_Missense_Mutation_p.H451Q|ZNF83_uc010epx.2_Missense_Mutation_p.H423Q|ZNF83_uc010epy.2_Missense_Mutation_p.H451Q|ZNF83_uc010epz.2_Missense_Mutation_p.H423Q NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 451 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTGTGAATTTTCC 0.388 NA 19 64 7.45e-12 8.57e-12 1 0 PRKCG 5582 broad.mit.edu 37 19 54392993 54392993 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:54392993G>C uc002qcq.1 + 4 669 c.387G>C c.(385-387)ATG>ATC p.M129I PRKCG_uc010eqz.1_Missense_Mutation_p.M129I|PRKCG_uc010yef.1_Missense_Mutation_p.M129I|PRKCG_uc010yeg.1_Missense_Mutation_p.M129I|PRKCG_uc010yeh.1_Intron NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 129 Phorbol-ester/DAG-type 2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACCAGGGCATGAAATGCTCCT 0.632 NA 4 23 0 0 0 0 FCAR 2204 broad.mit.edu 37 19 55401062 55401062 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:55401062G>A uc002qhr.1 + 5 894 c.697G>A c.(697-699)GTG>ATG p.V233M FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.V184M|FCAR_uc010esi.1_Missense_Mutation_p.V110M|FCAR_uc002qhu.1_Missense_Mutation_p.V137M|FCAR_uc002qhv.1_Missense_Mutation_p.V211M|FCAR_uc002qhw.1_Missense_Mutation_p.V221M|FCAR_uc002qhx.1_Missense_Mutation_p.V125M|FCAR_uc002qhy.1_Missense_Mutation_p.V199M|FCAR_uc002qhz.1_Missense_Mutation_p.R196H|FCAR_uc002qia.1_Missense_Mutation_p.V124M NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 233 Helical; (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CCGCATGGCCGTGGCAGGACT 0.527 NA 47 186 0 0 0 0 NLRP7 199713 broad.mit.edu 37 19 55447788 55447788 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:55447788A>G uc002qih.3 - 6 2217 c.2141T>C c.(2140-2142)GTC>GCC p.V714A NLRP7_uc002qig.3_Missense_Mutation_p.V686A|NLRP7_uc002qii.3_Missense_Mutation_p.V714A|NLRP7_uc010esk.2_Missense_Mutation_p.V714A|NLRP7_uc010esl.2_Missense_Mutation_p.V742A NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 714 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GTCAGGGGTGACGTTTTTAAT 0.483 NA 6 14 0 0 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967773 58967773 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:58967773C>T uc002qsv.1 + 4 1569 c.1462C>T c.(1462-1464)CGC>TGC p.R488C ZNF324B_uc002qsu.1_Missense_Mutation_p.R478C|ZNF324B_uc010euq.1_Missense_Mutation_p.R488C NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 488 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCAGTGTGGCCGCGCCTTCCG 0.662 NA 7 43 0 0 0 0 LPIN1 23175 broad.mit.edu 37 2 11911611 11911611 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:11911611C>T uc010yjn.1 + 5 676 c.402C>T c.(400-402)AGC>AGT p.S134S LPIN1_uc010yjm.1_Silent_p.S183S|LPIN1_uc002rbt.2_Silent_p.S134S|LPIN1_uc002rbs.2_Silent_p.S134S NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 134 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGGACCCCAGCACGCCAGCCC 0.572 NA 3 24 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50318511 50318511 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:50318511T>A uc010fbp.2 - 3 1370 c.563A>T c.(562-564)AAT>ATT p.N188I NRXN1_uc002rxb.3_Missense_Mutation_p.N895I|NRXN1_uc010fbq.2_Missense_Mutation_p.N1263I|NRXN1_uc002rxe.3_Missense_Mutation_p.N1223I NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 188 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) CAACGTGGCATTGCCACCACT 0.453 NA 25 128 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54859772 54859772 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:54859772G>C uc002rxu.2 + 17 3883 c.3634G>C c.(3634-3636)GAG>CAG p.E1212Q SPTBN1_uc002rxx.2_Missense_Mutation_p.E1199Q NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1212 Spectrin 9. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TAAAAAGCAAGAGGACTTCAT 0.478 NA 6 39 0 0 0 0 BCL11A 53335 broad.mit.edu 37 2 60687943 60687943 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:60687943G>A uc002sae.1 - 4 2332 c.2104C>T c.(2104-2106)CCG>TCG p.P702S BCL11A_uc002sab.2_Missense_Mutation_p.P702S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.P371S|BCL11A_uc010ypj.1_Missense_Mutation_p.P668S|BCL11A_uc002sad.1_Missense_Mutation_p.P550S|BCL11A_uc002saf.1_Missense_Mutation_p.P668S NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 702 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TCCCCGGGCGGTGTGGAGAAG 0.652 NA T IGH@ B-CLL 13 31 0 0 0 0 MBD5 55777 broad.mit.edu 37 2 149247498 149247498 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:149247498G>A uc002twm.3 + 12 4586 c.3598G>A c.(3598-3600)GAG>AAG p.E1200K MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.E1200K|MBD5_uc002two.2_Missense_Mutation_p.E458K|MBD5_uc002twp.2_Missense_Mutation_p.E250K NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1200 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GTGGGACGGGGAGCAAAGCCC 0.473 NA 5 81 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179598082 179598082 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:179598082T>A uc010zfg.1 - 51 12430 c.12206A>T c.(12205-12207)AAC>ATC p.N4069I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N730I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4996 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) GGCAACATTGTTTTTAAAACT 0.463 NA 26 41 0 0 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209191008 209191008 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:209191008G>T uc002vcz.2 + 20 3631 c.3473G>T c.(3472-3474)AGA>ATA p.R1158I PIKFYVE_uc010fun.1_Missense_Mutation_p.R839I|PIKFYVE_uc002vcy.1_Missense_Mutation_p.R1102I NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1158 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TATCGAGCCAGAGGAGGAAGA 0.463 NA 8 31 0.00307968 0.00322923 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209191022 209191022 + Nonsense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:209191022C>T uc002vcz.2 + 20 3645 c.3487C>T c.(3487-3489)CAG>TAG p.Q1163* PIKFYVE_uc010fun.1_Nonsense_Mutation_p.Q844*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.Q1107* NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1163 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 AGGAAGAATTCAGCCCAAAAA 0.478 NA 9 31 0 0 0 0 FARP2 9855 broad.mit.edu 37 2 242415337 242415337 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:242415337C>T uc002wbi.1 + 19 2314 c.2197C>T c.(2197-2199)CTG>TTG p.L733L hsa-mir-3133|MI0014153_5'Flank NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 733 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCTGGAGAACCTGCAGAAGCT 0.557 NA 9 26 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8639216 8639216 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:8639216G>T uc002wnb.2 + 9 730 c.727G>T c.(727-729)GAT>TAT p.D243Y PLCB1_uc010zrb.1_Missense_Mutation_p.D142Y|PLCB1_uc002wna.2_Missense_Mutation_p.D243Y|PLCB1_uc002wnc.1_Missense_Mutation_p.D142Y NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 243 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 TCTTACCGTTGATCAGATGAT 0.318 NA 13 52 1.5e-05 1.62e-05 1 0 SEL1L2 80343 broad.mit.edu 37 20 13839917 13839917 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:13839917G>A uc010gcf.2 - 18 1891 c.1809C>T c.(1807-1809)GGC>GGT p.G603G SEL1L2_uc002woq.3_Silent_p.G464G|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 603 Extracellular (Potential).|Sel1-like 11. integral to membrane binding ovary(2) 2 CCTTTGTGATGCCTAAGCCGT 0.393 NA 11 12 0 0 0 0 FAM83C 128876 broad.mit.edu 37 20 33876280 33876280 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:33876280C>A uc010zux.1 - 3 908 c.790G>T c.(790-792)GTG>TTG p.V264L FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 264 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTGCCCGCCACCACTTGCTCA 0.602 NA 6 56 0.000157383 0.000168048 1 0 ACTR5 79913 broad.mit.edu 37 20 37396229 37396229 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:37396229C>T uc002xjd.2 + 8 1581 c.1556C>T c.(1555-1557)TCT>TTT p.S519F NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 519 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) CCCTTCCGGTCTTCTTTTCAG 0.373 NA 7 55 0 0 0 0 SNX21 90203 broad.mit.edu 37 20 44469390 44469390 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:44469390G>A uc002xpv.1 + 4 649 c.560G>A c.(559-561)CGG>CAG p.R187Q SNX21_uc002xps.1_Missense_Mutation_p.R187Q|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.R177Q|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_5'UTR|SNX21_uc002xpz.1_5'UTR NM_033421 NP_219489 Q969T3 SNX21_HUMAN sorting nexin 21 isoform a 187 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CGGCAATTCCGGGGCCCAATG 0.627 NA 31 65 0 0 0 0 NCOA5 57727 broad.mit.edu 37 20 44692044 44692044 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:44692044C>T uc002xrd.2 - 6 1633 c.1105G>A c.(1105-1107)GAG>AAG p.E369K NCOA5_uc002xrc.2_Missense_Mutation_p.E257K|NCOA5_uc002xre.2_Missense_Mutation_p.E369K NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) TCCTTCCGCTCTCGCAGGTAG 0.577 NA 5 40 0 0 0 0 DPM1 8813 broad.mit.edu 37 20 49562395 49562395 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr20:49562395G>A uc002xvw.1 - 4 361 c.361C>T c.(361-363)CTC>TTC p.L121F DPM1_uc002xvv.1_Missense_Mutation_p.L16F|DPM1_uc002xvx.1_RNA NM_003859 NP_003850 O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase 1 121 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding ovary(1) 1 TGGTGTGAGAGATCAGCATCC 0.323 NA 32 43 0 0 0 0 BRWD1 54014 broad.mit.edu 37 21 40572223 40572223 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr21:40572223C>T uc002yxk.1 - 39 4814 c.4675G>A c.(4675-4677)GAA>AAA p.E1559K BRWD1_uc010goc.1_Missense_Mutation_p.E202K|BRWD1_uc002yxl.2_Missense_Mutation_p.E1559K NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1559 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GAGGAGGATTCACGAGCTCTG 0.443 NA 15 28 0 0 0 0 TSSK2 23617 broad.mit.edu 37 22 19118919 19118919 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr22:19118919G>A uc002zow.2 + 1 599 c.7G>A c.(7-9)GAT>AAT p.D3N DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 3 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) CACCATGGACGATGCCACAGT 0.562 NA 6 13 0 0 0 0 PES1 23481 broad.mit.edu 37 22 30983347 30983347 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr22:30983347C>G uc003aij.1 - 4 368 c.294G>C c.(292-294)AAG>AAC p.K98N PES1_uc003aik.1_Missense_Mutation_p.K98N|PES1_uc003ail.1_Missense_Mutation_p.K98N|PES1_uc003aim.1_Missense_Mutation_p.K98N|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 98 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 TCCACTCGCTCTTCCCATAAG 0.507 NA 13 55 0 0 0 0 NPTXR 23467 broad.mit.edu 37 22 39218697 39218697 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr22:39218697G>A uc003awk.2 - 5 1574 c.1420C>T c.(1420-1422)CCC>TCC p.P474S NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 474 Pentaxin.|Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) TCTTCCCAGGGAAGGACGTTG 0.617 NA 6 17 0 0 0 0 MCHR1 2847 broad.mit.edu 37 22 41077104 41077104 + Silent SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr22:41077104C>A uc003ayz.2 + 2 709 c.441C>A c.(439-441)CCC>CCA p.P147P MCHR1_uc003aza.2_Silent_p.P36P NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 147 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 ACAACGTCCCCGACATCTTCA 0.562 NA 14 54 0.000151284 0.000162729 1 0 ATXN10 25814 broad.mit.edu 37 22 46088947 46088947 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr22:46088947C>G uc003bgm.1 + 3 637 c.380C>G c.(379-381)TCT>TGT p.S127C ATXN10_uc011aqt.1_Missense_Mutation_p.S63C|ATXN10_uc003bgn.1_Translation_Start_Site NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN ataxin 10 127 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm p.S127C(1) ovary(1)|kidney(1) 2 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) GAACAGGAATCTCTGTTGACA 0.328 NA 8 27 0 0 0 0 MLC1 23209 broad.mit.edu 37 22 50500013 50500013 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr22:50500013C>T uc003bjg.1 - 12 1406 c.1133G>A c.(1132-1134)TGA>TAA p.*378* MLC1_uc011arl.1_Silent_p.*326*|MLC1_uc003bjh.1_Silent_p.*378*|MLC1_uc011arm.1_Silent_p.*348*|MLC1_uc011arn.1_Silent_p.*299*|MLC1_uc011aro.1_Silent_p.*344* NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 378 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) GTCTGGGGGTCACTGGGCCAT 0.607 NA 10 37 0 0 0 0 ATRIP 84126 broad.mit.edu 37 3 48505262 48505262 + Nonsense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:48505262C>T uc003ctf.1 + 9 1896 c.1864C>T c.(1864-1866)CAG>TAG p.Q622* ATRIP_uc011bbj.1_Nonsense_Mutation_p.Q495*|ATRIP_uc003ctg.1_Nonsense_Mutation_p.Q622*|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'Flank|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 622 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTGGCACCTCAGCTCTGTTC 0.627 NA Other_conserved_DNA_damage_response_genes 5 26 0 0 0 0 HYAL2 8692 broad.mit.edu 37 3 50357479 50357479 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:50357479T>C uc003czu.2 - 2 662 c.442A>G c.(442-444)AAA>GAA p.K148E HYAL2_uc003czx.2_Missense_Mutation_p.K148E|HYAL2_uc003czv.2_Missense_Mutation_p.K148E|HYAL2_uc003czw.2_Missense_Mutation_p.K148E|HYAL2_uc010hlj.2_Missense_Mutation_p.K148E NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor 148 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) TACACATCTTTGTCCTGCCAG 0.572 NA 36 15 0 0 0 0 VPRBP 9730 broad.mit.edu 37 3 51450829 51450829 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:51450829C>T uc003dbe.1 - 20 4111 c.3943G>A c.(3943-3945)GCA>ACA p.A1315T VPRBP_uc003dbf.1_Missense_Mutation_p.A591T NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 1315 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCATCATCTGCCTGCAACATA 0.433 NA 5 8 0 0 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54420765 54420765 + Missense_Mutation SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:54420765A>T uc003dhf.2 + 4 393 c.345A>T c.(343-345)GAA>GAT p.E115D CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E21D|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Translation_Start_Site NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 115 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTGCAGAAGAAGCACACCTGA 0.393 NA 4 0 0 0 0 0 ALCAM 214 broad.mit.edu 37 3 105258904 105258904 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:105258904G>A uc003dvx.2 + 7 1356 c.816G>A c.(814-816)GGG>GGA p.G272G ALCAM_uc003dvw.1_Silent_p.G272G|ALCAM_uc003dvy.2_Silent_p.G272G|ALCAM_uc011bhh.1_Silent_p.G221G|ALCAM_uc010hpp.2_Intron NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 272 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 AATGCTTAGGGAATGGCAACC 0.398 NA 21 107 0 0 0 0 BOC 91653 broad.mit.edu 37 3 112968723 112968723 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:112968723C>A uc003dzx.2 + 3 695 c.74C>A c.(73-75)ACA>AAA p.T25K BOC_uc010hqi.2_Missense_Mutation_p.T25K|BOC_uc003dzy.2_Missense_Mutation_p.T25K|BOC_uc003dzz.2_Missense_Mutation_p.T25K|BOC_uc003dzw.1_Missense_Mutation_p.T25K|BOC_uc003eaa.1_Missense_Mutation_p.T25K NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 25 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) CTCCTAGCCACAGCAGGCTGC 0.507 NA 6 23 3.6e-05 3.89e-05 1 0 GPR156 165829 broad.mit.edu 37 3 119912164 119912164 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:119912164C>T uc011bjf.1 - 3 341 c.341G>A c.(340-342)AGC>AAC p.S114N GPR156_uc011bjg.1_Missense_Mutation_p.S114N NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 114 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) TTCCATTGAGCTCCCCACTAA 0.413 NA 27 44 0 0 0 0 STXBP5L 9515 broad.mit.edu 37 3 120998727 120998727 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:120998727C>T uc003eec.3 + 19 2174 c.2034C>T c.(2032-2034)ACC>ACT p.T678T STXBP5L_uc011bji.1_Silent_p.T678T NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 678 WD 10. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GCATGGGGACCATTGACCTAT 0.398 NA 42 55 0 0 0 0 CASR 846 broad.mit.edu 37 3 122003858 122003858 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:122003858G>A uc003eev.3 + 7 3429 c.3057G>A c.(3055-3057)GGG>GGA p.G1019G CASR_uc003eew.3_Silent_p.G1029G NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 1019 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGCAGTGCGGGGAAACGGACT 0.602 NA 13 58 0 0 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629889 122629889 + Missense_Mutation SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:122629889A>T uc003efz.1 - 22 3399 c.3095T>A c.(3094-3096)TTC>TAC p.F1032Y SEMA5B_uc011bju.1_Missense_Mutation_p.F938Y|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.F1032Y|SEMA5B_uc003efy.1_Missense_Mutation_p.F10Y NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 1032 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GATGAGATTGAACCCTAGGGG 0.587 NA 11 14 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124413262 124413262 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:124413262C>T uc003ehg.2 + 53 7616 c.7489C>T c.(7489-7491)CGG>TGG p.R2497W KALRN_uc003ehk.2_Missense_Mutation_p.R800W NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2496 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGTCTGTGGGCGGCCAAAGCC 0.527 NA 42 58 0 0 0 0 PLXND1 23129 broad.mit.edu 37 3 129293182 129293182 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:129293182G>A uc003emx.2 - 12 2782 c.2682C>T c.(2680-2682)CGC>CGT p.R894R NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 894 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGCTTACCGCGTGGATCTCGG 0.701 NA 3 11 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130289961 130289961 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:130289961G>A uc010htl.2 + 6 2732 c.2701G>A c.(2701-2703)GAA>AAA p.E901K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 901 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CATGTTCACTGAAGCCCGGGG 0.532 NA 10 18 0 0 0 0 ASTE1 28990 broad.mit.edu 37 3 130743229 130743229 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:130743229C>G uc003env.1 - 3 1364 c.922G>C c.(922-924)GAC>CAC p.D308H NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.D308H|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 308 DNA repair nuclease activity 0 TGGAAGAAGTCCTGTAGCTTC 0.423 NA 7 79 0 0 0 0 PLSCR4 57088 broad.mit.edu 37 3 145917612 145917612 + Silent SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:145917612A>G uc010huy.2 - 6 941 c.612T>C c.(610-612)TCT>TCC p.S204S PLSCR4_uc010huz.2_Silent_p.S204S|PLSCR4_uc003evt.3_Silent_p.S204S|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 204 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 CTTGTCTGGCAGAGGGGCAAC 0.502 NA 6 17 0 0 0 0 IFT80 57560 broad.mit.edu 37 3 160095241 160095241 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:160095241T>C uc011boy.1 - 4 780 c.347A>G c.(346-348)TAT>TGT p.Y116C IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 116 WD 2. cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGTTCCTTCATAATTCCATCT 0.308 NA 10 61 0 0 0 0 PEX5L 51555 broad.mit.edu 37 3 179525537 179525538 + Missense_Mutation DNP GC GC TT TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:179525537_179525538GC>TT uc003fki.1 - 14 1730_1731 c.1600_1601GC>AA c.(1600-1602)GCA>AAA p.A534K PEX5L_uc011bqd.1_Missense_Mutation_p.A491K|PEX5L_uc011bqe.1_Missense_Mutation_p.A342K|PEX5L_uc011bqf.1_Missense_Mutation_p.A426K|PEX5L_uc003fkj.1_Missense_Mutation_p.A499K|PEX5L_uc010hxd.1_Missense_Mutation_p.A532K|PEX5L_uc011bqg.1_Missense_Mutation_p.A510K|PEX5L_uc011bqh.1_Missense_Mutation_p.A475K NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 534 TPR 4. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AATCTCCAGTGCTCGCGTATAG 0.554 NA 63 108 0 0 0 0 PARL 55486 broad.mit.edu 37 3 183560190 183560190 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:183560190G>A uc003fmd.2 - 6 712 c.653C>T c.(652-654)TCC>TTC p.S218F PARL_uc003fme.2_Intron NM_018622 NP_061092 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like isoform 1 218 Helical; (Potential). proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity 0 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTGAAATAAGGAGAAATGACT 0.398 NA 21 87 0 0 0 0 VPS8 23355 broad.mit.edu 37 3 184567769 184567769 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr3:184567769A>G uc003fpb.1 + 9 877 c.706A>G c.(706-708)ACA>GCA p.T236A VPS8_uc010hyd.1_Missense_Mutation_p.T236A NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 238 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AAGATCAATAACAGATGCTCA 0.313 NA 8 46 0 0 0 0 HTT 3064 broad.mit.edu 37 4 3225795 3225795 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:3225795A>G uc011bvq.1 + 57 7853 c.7708A>G c.(7708-7710)ATT>GTT p.I2570V NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2568 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAGAGAGAATATTGCCACCCA 0.468 NA 22 82 0 0 0 0 STIM2 57620 broad.mit.edu 37 4 27004653 27004653 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:27004653G>A uc003gsh.3 + 7 1385 c.1169G>A c.(1168-1170)CGG>CAG p.R390Q STIM2_uc003gsg.3_Missense_Mutation_p.R390Q|STIM2_uc010iex.2_Missense_Mutation_p.R390Q|STIM2_uc010iey.2_Missense_Mutation_p.R14Q NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 303 Cytoplasmic (Potential).|Potential. activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) GAGGCTTGTCGGCTGAGAGAG 0.388 NA 13 28 0 0 0 0 COMMD8 54951 broad.mit.edu 37 4 47458656 47458656 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:47458656G>C uc003gxi.2 - 3 321 c.313C>G c.(313-315)CTG>GTG p.L105V NM_017845 NP_060315 Q9NX08 COMD8_HUMAN COMM domain containing 8 105 protein binding 0 TCTCTTGACAGAGCCTGTTTG 0.328 NA 19 82 0 0 0 0 SLC10A4 201780 broad.mit.edu 37 4 48487038 48487038 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:48487038C>A uc003gyc.2 + 2 899 c.680C>A c.(679-681)CCT>CAT p.P227H NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 227 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 ATCAACACCCCTATCGTGCAG 0.552 NA 62 126 6.27e-30 7.32e-30 1 0 LRRC66 339977 broad.mit.edu 37 4 52861475 52861475 + Silent SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:52861475A>G uc003gzi.2 - 4 1726 c.1713T>C c.(1711-1713)TAT>TAC p.Y571Y NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 571 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CATTGGAATCATAACGGCTTG 0.498 NA 23 92 0 0 0 0 SCARB2 950 broad.mit.edu 37 4 77116980 77116980 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:77116980G>A uc003hju.1 - 2 494 c.155C>T c.(154-156)TCC>TTC p.S52F SCARB2_uc011cbu.1_Missense_Mutation_p.S52F NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 52 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) CTTCTCCCAGGAGTCAAATGC 0.438 NA 25 35 0 0 0 0 CCDC158 339965 broad.mit.edu 37 4 77300534 77300534 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:77300534G>A uc003hkb.3 - 8 1091 c.938C>T c.(937-939)TCT>TTT p.S313F CCDC158_uc003hkd.2_Missense_Mutation_p.S313F NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 313 Potential. skin(3)|ovary(2)|pancreas(1) 6 CATATACATAGAGTTTTGGTT 0.383 NA 10 41 0 0 0 0 CCNG2 901 broad.mit.edu 37 4 78081922 78081923 + Missense_Mutation DNP GC GC TT TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:78081922_78081923GC>TT uc003hkq.3 + 4 628_629 c.325_326GC>TT c.(325-327)GCT>TTT p.A109F CCNG2_uc003hkn.3_Missense_Mutation_p.A109F|CCNG2_uc011ccc.1_Missense_Mutation_p.A109F|CCNG2_uc003hkp.3_Missense_Mutation_p.A109F NM_004354 NP_004345 Q16589 CCNG2_HUMAN cyclin G2 109 cell cycle checkpoint|cell division|mitosis cytoplasm ovary(2)|lung(1) 3 TTTTTTGCTGGCTGCTAGAATA 0.386 NA 41 78 0 0 0 0 TACR3 6870 broad.mit.edu 37 4 104640669 104640669 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:104640669G>A uc003hxe.1 - 1 307 c.164C>T c.(163-165)CCT>CTT p.P55L NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 55 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CAGCGCGGAAGGGGAGGAGGA 0.697 NA 7 36 0 0 0 0 TIGD4 201798 broad.mit.edu 37 4 153691231 153691231 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:153691231G>A uc003imy.2 - 2 1708 c.926C>T c.(925-927)TCA>TTA p.S309L NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 309 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) AGATAAACATGATGGAAAGAA 0.343 NA 6 46 0 0 0 0 FGG 2266 broad.mit.edu 37 4 155528082 155528082 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:155528082G>T uc003ioj.2 - 8 1045 c.904C>A c.(904-906)CTA>ATA p.L302I FGG_uc003iog.2_Missense_Mutation_p.L302I|FGG_uc003ioh.2_Missense_Mutation_p.L310I|FGG_uc010ipx.2_Missense_Mutation_p.L130I|FGG_uc010ipy.2_Missense_Mutation_p.L13I|FGG_uc003ioi.2_Missense_Mutation_p.L13I|FGG_uc003iok.2_Missense_Mutation_p.L310I NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 302 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GCATATGTTAGGCGGTACTTG 0.478 NA 9 55 1.77e-08 1.99e-08 1 0 KIAA1712 80817 broad.mit.edu 37 4 175229984 175229984 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr4:175229984G>A uc003itr.2 + 7 1066 c.652G>A c.(652-654)GTT>ATT p.V218I KIAA1712_uc010iro.2_Missense_Mutation_p.V218I|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 218 centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) TGAAGTAAAGGTTCCTGAAAT 0.328 NA 4 27 0 0 0 0 MARCH11 441061 broad.mit.edu 37 5 16177895 16177895 + Silent SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:16177895G>T uc003jfo.2 - 2 846 c.633C>A c.(631-633)ACC>ACA p.T211T uc003jfp.2_5'Flank NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 211 RING-CH-type. cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 AAAGTTCACAGGTCCAGGAAC 0.408 NA 7 42 2.01e-06 2.21e-06 1 0 CDH18 1016 broad.mit.edu 37 5 19747278 19747278 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:19747278G>A uc003jgc.2 - 3 673 c.296C>T c.(295-297)ACT>ATT p.T99I CDH18_uc003jgd.2_Missense_Mutation_p.T99I|CDH18_uc011cnm.1_Missense_Mutation_p.T99I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 99 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GATAAATATAGTCCCAGCACC 0.418 NA 41 51 0 0 0 0 C6 729 broad.mit.edu 37 5 41153999 41153999 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:41153999C>T uc003jmk.2 - 15 2413 c.2203G>A c.(2203-2205)GGC>AGC p.G735S C6_uc003jml.1_Missense_Mutation_p.G735S NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 735 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACAACAAAGCCTTTGGGGCAA 0.473 NA 12 45 0 0 0 0 FGF10 2255 broad.mit.edu 37 5 44305279 44305279 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:44305279C>T uc003jog.1 - 3 445 c.445G>A c.(445-447)GAC>AAC p.D149N NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 149 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) AGCTTACAGTCATTGTTAAAT 0.378 NA 12 86 0 0 0 0 EMB 133418 broad.mit.edu 37 5 49706781 49706781 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:49706781G>A uc003jom.2 - 4 651 c.402C>T c.(400-402)AGC>AGT p.S134S EMB_uc003jol.2_Silent_p.S65S|EMB_uc011cpy.1_Silent_p.S84S|EMB_uc010ivr.2_Silent_p.S80S NM_198449 NP_940851 Q6PCB8 EMB_HUMAN embigin precursor 134 Extracellular (Potential).|Ig-like V-type 1. integral to membrane 0 Lung SC(58;0.218) Lung NSC(810;0.0795) CCATTTGTTTGCTATTAATGA 0.284 NA 5 18 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256935 63256935 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:63256935G>T uc011cqt.1 - 1 612 c.612C>A c.(610-612)TTC>TTA p.F204L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 204 Helical; Name=5; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCGGGATGTAGAAAGCTCCAA 0.582 NA 27 66 7.76e-22 9.02e-22 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101572684 101572684 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:101572684A>G uc003knm.2 - 13 2340 c.2053T>C c.(2053-2055)TTT>CTT p.F685L NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 685 Helical; Name=12; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AAGATTGCAAATCCATTGAAG 0.308 NA 13 10 0 0 0 0 COMMD10 51397 broad.mit.edu 37 5 115628170 115628170 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:115628170T>C uc003krt.1 + 7 616 c.593T>C c.(592-594)CTG>CCG p.L198P NM_016144 NP_057228 Q9Y6G5 COMDA_HUMAN COMM domain containing 10 198 COMM. protein binding ovary(1) 1 all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05) CAAGCACAGCTGGATTCCCTT 0.373 NA 20 33 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590345 140590345 + Silent SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:140590345C>G uc003liz.2 + 1 2055 c.1866C>G c.(1864-1866)GGC>GGG p.G622G PCDHB12_uc011dak.1_Silent_p.G285G NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 622 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCACAATGGCGAGGTGCGCA 0.701 NA 12 46 0 0 0 0 GABRB2 2561 broad.mit.edu 37 5 160758096 160758097 + Missense_Mutation DNP GG GG TA TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:160758096_160758097GG>TA uc003lys.1 - 9 1088_1089 c.870_871CC>TA c.(868-873)ACCCAC>ACTAAC p.H291N GABRB2_uc011deh.1_Missense_Mutation_p.H130N|GABRB2_uc003lyr.1_Missense_Mutation_p.H291N|GABRB2_uc003lyt.1_Missense_Mutation_p.H291N|GABRB2_uc010jiu.1_Missense_Mutation_p.H228N NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 291 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCCCGGAGGTGGGTGTTGATTG 0.426 NA 14 61 0 0 0 0 FAM193B 54540 broad.mit.edu 37 5 176951848 176951848 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:176951848T>A uc003mhs.3 - 8 3124 c.1535A>T c.(1534-1536)CAC>CTC p.H512L FAM193B_uc003mhr.2_Missense_Mutation_p.H49L|FAM193B_uc003mht.2_Missense_Mutation_p.H171L|FAM193B_uc003mhu.2_Missense_Mutation_p.H224L|FAM193B_uc003mhv.2_Missense_Mutation_p.H171L|FAM193B_uc003mhw.2_RNA NM_019057 NP_061930 E9PET5 E9PET5_HUMAN hypothetical protein LOC54540 545 0 TTGTAACGTGTGGTTCTGAGG 0.617 NA 7 2 0 0 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601613 7601613 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:7601613C>T uc003mxr.2 + 5 510 c.451C>T c.(451-453)CGG>TGG p.R151W SNRNP48_uc003mxs.2_RNA NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 151 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 GAATCACAAACGGTTTGTTTG 0.328 NA 17 54 0 0 0 0 BAT2 7916 broad.mit.edu 37 6 31598493 31598493 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:31598493G>C uc003nvb.3 + 15 2629 c.2380G>C c.(2380-2382)GAT>CAT p.D794H BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.D794H NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 794 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CTGGGTAGGAGATGTCTTCAC 0.597 NA 15 30 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38819387 38819387 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:38819387C>T uc003ooe.1 + 37 5352 c.4752C>T c.(4750-4752)TTC>TTT p.F1584F NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CAAGATTCTTCTTTGTATCTG 0.353 NA 6 34 0 0 0 0 TREML1 340205 broad.mit.edu 37 6 41119090 41119090 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:41119090G>C uc011duc.1 - 3 453 c.409C>G c.(409-411)CTG>GTG p.L137V TREML1_uc003opx.2_Missense_Mutation_p.L137V|TREML1_uc011dud.1_Missense_Mutation_p.L26V NM_178174 NP_835468 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid 137 Extracellular (Potential). calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) TTCTCAGCCAGACTGCCAATC 0.517 NA 16 52 0 0 0 0 CD109 135228 broad.mit.edu 37 6 74477802 74477802 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:74477802G>T uc003php.2 + 14 1947 c.1522G>T c.(1522-1524)GCT>TCT p.A508S CD109_uc010kaz.2_Missense_Mutation_p.A508S|CD109_uc003phq.2_Missense_Mutation_p.A508S|CD109_uc010kba.2_Missense_Mutation_p.A431S NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 508 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 ACAGTTGGTGGCTGTAGGAAA 0.363 NA 17 38 2.23e-06 2.45e-06 1 0 BVES 11149 broad.mit.edu 37 6 105573428 105573428 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:105573428C>G uc003pqw.2 - 4 534 c.377G>C c.(376-378)GGC>GCC p.G126A BVES_uc003pqx.2_Missense_Mutation_p.G126A|BVES_uc003pqy.2_Missense_Mutation_p.G126A NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 126 Cytoplasmic (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) CCGGTACATGCCACTGAGTTC 0.438 NA 13 67 0 0 0 0 RFX6 222546 broad.mit.edu 37 6 117248219 117248219 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:117248219C>A uc003pxm.2 + 17 1978 c.1915C>A c.(1915-1917)CAT>AAT p.H639N NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 639 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GATTGCTGGTCATCTGATGAC 0.453 NA 19 55 1.26e-06 1.4e-06 1 0 C6orf204 387119 broad.mit.edu 37 6 118887420 118887420 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:118887420G>A uc003pxz.1 - 3 880 c.292C>T c.(292-294)CCT>TCT p.P98S C6orf204_uc003pya.1_Missense_Mutation_p.P101S|C6orf204_uc003pyb.2_Missense_Mutation_p.P98S|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.P101S|C6orf204_uc011ebl.1_5'UTR NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 98 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TGGGCAGTAGGAAGAGTAATC 0.388 NA 3 26 0 0 0 0 C6orf58 352999 broad.mit.edu 37 6 127899855 127899855 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:127899855G>A uc003qbh.2 + 2 338 c.326G>A c.(325-327)AGG>AAG p.R109K NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 109 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CCAACCCGAAGGACAAACTGT 0.418 NA 53 64 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129621886 129621886 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:129621886G>A uc003qbn.2 + 22 3148 c.3043G>A c.(3043-3045)GAA>AAA p.E1015K LAMA2_uc003qbo.2_Missense_Mutation_p.E1015K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1015 Laminin EGF-like 11. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAAGCTTGTGAATGTTCTCA 0.378 NA 30 35 0 0 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129950552 129950552 + Silent SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:129950552T>C uc003qbr.2 - 5 821 c.732A>G c.(730-732)AAA>AAG p.K244K ARHGAP18_uc011ebw.1_Silent_p.K244K NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 244 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) TGGAGCTCTCTTTCTGATTGA 0.418 NA 20 72 0 0 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129959657 129959657 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:129959657G>T uc003qbr.2 - 3 523 c.434C>A c.(433-435)GCA>GAA p.A145E ARHGAP18_uc011ebw.1_Missense_Mutation_p.A145E NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 145 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AACTGCTGCTGCCTGGGTCCG 0.478 NA 25 72 5.35e-06 5.84e-06 1 0 GRM1 2911 broad.mit.edu 37 6 146755040 146755040 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:146755040C>T uc010khw.1 + 9 3163 c.2693C>T c.(2692-2694)CCA>CTA p.P898L GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_Intron|GRM1_uc011eea.1_Intron NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 898 Cytoplasmic (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) TGGTCTGAACCAGGTGGAGGA 0.458 NA 4 32 0 0 0 0 TAB2 23118 broad.mit.edu 37 6 149700391 149700391 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:149700391C>T uc003qmj.2 + 3 1518 c.1340C>T c.(1339-1341)TCT>TTT p.S447F TAB2_uc011eec.1_Missense_Mutation_p.S415F|TAB2_uc010kia.1_Missense_Mutation_p.S447F|TAB2_uc010kib.1_Missense_Mutation_p.S447F|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 447 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 GGCAATAACTCTGCAACCTCT 0.502 NA 22 60 0 0 0 0 C6orf97 80129 broad.mit.edu 37 6 151859372 151859372 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:151859372C>T uc003qol.2 + 3 468 c.379C>T c.(379-381)CAC>TAC p.H127Y NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 127 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AATCACAGCTCACGCTGCAAT 0.363 NA 10 29 0 0 0 0 UNC93A 54346 broad.mit.edu 37 6 167728907 167728907 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:167728907G>A uc003qvq.2 + 8 1516 c.1341G>A c.(1339-1341)CAG>CAA p.Q447Q UNC93A_uc003qvr.2_Silent_p.Q405Q NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 447 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGGTCAACCAGGCAGAGGATG 0.532 NA 38 61 0 0 0 0 RADIL 55698 broad.mit.edu 37 7 4862158 4862158 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:4862158G>A uc003snj.1 - 6 1655 c.1482C>T c.(1480-1482)TGC>TGT p.C494C RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'UTR|RADIL_uc011jwc.1_Silent_p.C254C|RADIL_uc011jwd.1_Intron NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 494 cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CAGCCATGGCGCAGCTGGCCA 0.532 NA 18 28 0 0 0 0 ANLN 54443 broad.mit.edu 37 7 36459826 36459826 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:36459826G>C uc003tff.2 + 11 2122 c.1918G>C c.(1918-1920)GAT>CAT p.D640H ANLN_uc011kaz.1_Missense_Mutation_p.D552H|ANLN_uc003tfg.2_Missense_Mutation_p.D603H|ANLN_uc010kxe.2_Missense_Mutation_p.D602H NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 640 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 CAGCAGAAGTGATGAAAGTCC 0.403 NA 7 57 0 0 0 0 HUS1 3364 broad.mit.edu 37 7 48007409 48007409 + Missense_Mutation SNP A A C rs79656108 TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:48007409A>C uc003tod.1 - 7 884 c.754T>G c.(754-756)TTA>GTA p.L252V HUS1_uc003toe.1_Missense_Mutation_p.L252V|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 252 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) TCACTGCATAAGGCCTTTGTG 0.388 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 23 40 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48313389 48313389 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:48313389G>C uc003toq.2 + 17 4151 c.4126G>C c.(4126-4128)GAC>CAC p.D1376H ABCA13_uc010kyr.2_Missense_Mutation_p.D879H NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1376 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACGTATTCTAGACACGTTAAA 0.328 NA 6 15 0 0 0 0 GRB10 2887 broad.mit.edu 37 7 50663143 50663143 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:50663143C>A uc003tpi.2 - 15 1660 c.1629G>T c.(1627-1629)CAG>CAT p.Q543H GRB10_uc003tph.3_Missense_Mutation_p.Q485H|GRB10_uc003tpj.2_Missense_Mutation_p.Q497H|GRB10_uc003tpk.2_Missense_Mutation_p.Q543H|GRB10_uc010kzb.2_Missense_Mutation_p.Q485H|GRB10_uc003tpl.2_Missense_Mutation_p.Q537H|GRB10_uc003tpm.2_Missense_Mutation_p.Q485H|GRB10_uc003tpn.2_Missense_Mutation_p.Q485H NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 543 SH2. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) CAGGTAAGATCTGGAAATTTT 0.398 NA Russell-Silver_syndrome 56 99 2.31e-43 2.71e-43 1 0 PEX1 5189 broad.mit.edu 37 7 92120800 92120800 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:92120800G>C uc003uly.2 - 21 3320 c.3224C>G c.(3223-3225)TCT>TGT p.S1075C PEX1_uc011khr.1_Missense_Mutation_p.S867C|PEX1_uc010ley.2_Missense_Mutation_p.S1018C|PEX1_uc011khs.1_Missense_Mutation_p.S753C NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 1075 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GTCACTATCAGAGCTGGAACT 0.373 NA 16 63 0 0 0 0 CALCR 799 broad.mit.edu 37 7 93073008 93073008 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:93073008A>G uc003umv.1 - 10 1073 c.812T>C c.(811-813)ATG>ACG p.M271T CALCR_uc011kia.1_Missense_Mutation_p.M51T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.M237T|CALCR_uc003umw.2_Missense_Mutation_p.M237T NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 253 Helical; Name=3; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTCACAGAGCATCCAGAAATA 0.443 NA 27 71 0 0 0 0 MLL5 55904 broad.mit.edu 37 7 104752438 104752438 + Nonsense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:104752438C>G uc003vcm.2 + 27 4769 c.4235C>G c.(4234-4236)TCA>TGA p.S1412* MLL5_uc010ljc.2_Nonsense_Mutation_p.S1412*|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Nonsense_Mutation_p.S146* NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1412 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 CAAGCACTTTCAAAGAATCAT 0.433 NA 17 81 0 0 0 0 MDFIC 29969 broad.mit.edu 37 7 114619638 114619638 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:114619638G>C uc003vhf.2 + 4 885 c.622G>C c.(622-624)GGC>CGC p.G208R NM_199072 NP_951038 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing protein 99 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus cyclin binding|Tat protein binding ovary(1) 1 GATAAAGAACGGCCACACAGG 0.473 NA 16 20 0 0 0 0 ING3 54556 broad.mit.edu 37 7 120590962 120590962 + Silent SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:120590962A>G uc003vjn.2 + 1 146 c.12A>G c.(10-12)CTA>CTG p.L4L ING3_uc011knr.1_Silent_p.L4L|ING3_uc003vjl.2_Silent_p.L4L|ING3_uc003vjm.1_Silent_p.L4L|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Silent_p.L4L|ING3_uc011kns.1_5'Flank NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 4 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) TGTTGTACCTAGAAGACTATC 0.443 NA 25 74 0 0 0 0 MKLN1 4289 broad.mit.edu 37 7 131122674 131122674 + Missense_Mutation SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:131122674A>T uc011kpm.1 + 10 1155 c.1091A>T c.(1090-1092)TAT>TTT p.Y364F MKLN1_uc011kpl.1_Missense_Mutation_p.Y341F|MKLN1_uc010lmh.2_Missense_Mutation_p.Y364F|MKLN1_uc003vqs.2_Missense_Mutation_p.Y157F NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 364 Kelch 2. signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) TTCTATCGTTATGACATTGAT 0.413 NA 56 75 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870132 131870132 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:131870132G>C uc003vra.3 - 16 3313 c.3084C>G c.(3082-3084)ATC>ATG p.I1028M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1028 IPT/TIG 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GGTCCTGGTGGATCTTGGCCC 0.557 NA 8 45 0 0 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417901 150417901 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr7:150417901C>T uc003whq.2 + 3 896 c.809C>T c.(808-810)TCC>TTC p.S270F GIMAP1_uc003whp.2_Missense_Mutation_p.S278F NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 270 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGCTGAAGTCCCCCAGGAGC 0.741 NA 5 4 0 0 0 0 ZNF596 169270 broad.mit.edu 37 8 195664 195664 + Missense_Mutation SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:195664C>A uc003wot.2 + 6 1105 c.817C>A c.(817-819)CAC>AAC p.H273N ZNF596_uc003wou.2_Missense_Mutation_p.H172N|ZNF596_uc003wov.2_Missense_Mutation_p.H273N|ZNF596_uc003wow.2_Missense_Mutation_p.H273N NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 273 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) TGAGATGATTCACACTAGAGA 0.408 NA 8 59 0.000274275 0.000291261 1 0 CSMD1 64478 broad.mit.edu 37 8 2886928 2886928 + Missense_Mutation SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:2886928G>T uc011kwk.1 - 51 8161 c.7771C>A c.(7771-7773)CCT>ACT p.P2591T CSMD1_uc011kwj.1_Missense_Mutation_p.P1920T|CSMD1_uc010lrg.2_Missense_Mutation_p.P659T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2591 Extracellular (Potential).|Sushi 16. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAGTAACCAGGACTGCAGCTC 0.532 NA 6 12 0.00198382 0.00208766 1 0 RP1 6101 broad.mit.edu 37 8 55542523 55542523 + Missense_Mutation SNP T T A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:55542523T>A uc003xsd.1 + 4 6229 c.6081T>A c.(6079-6081)GAT>GAA p.D2027E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2027 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCAACCAGATTTGAAGGAAA 0.338 NA 26 119 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56436490 56436490 + Missense_Mutation SNP C C T rs145363139 TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:56436490C>T uc003xsf.2 + 3 1689 c.1657C>T c.(1657-1659)CGC>TGC p.R553C NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 553 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CTCCAACAACCGCAGTGTTGT 0.587 NA 30 73 0 0 0 0 TGS1 96764 broad.mit.edu 37 8 56717593 56717593 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:56717593G>C uc003xsj.3 + 10 2528 c.2141G>C c.(2140-2142)AGA>ACA p.R714T TGS1_uc010lyh.2_Missense_Mutation_p.R618T NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 714 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ACAGGAATGAGAGGTAATTAG 0.378 NA 15 73 0 0 0 0 ASPH 444 broad.mit.edu 37 8 62555450 62555450 + Nonsense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:62555450G>A uc003xuj.2 - 10 1056 c.787C>T c.(787-789)CAA>TAA p.Q263* ASPH_uc011leg.1_Nonsense_Mutation_p.Q234*|ASPH_uc003xuo.2_Nonsense_Mutation_p.Q244*|ASPH_uc011leh.1_Nonsense_Mutation_p.Q230*|ASPH_uc003xul.2_Nonsense_Mutation_p.Q249*|ASPH_uc011lei.1_Nonsense_Mutation_p.Q249*|ASPH_uc011lej.1_Nonsense_Mutation_p.Q206*|ASPH_uc003xun.2_Nonsense_Mutation_p.Q220*|ASPH_uc011lek.1_Nonsense_Mutation_p.Q244*|ASPH_uc003xum.2_Nonsense_Mutation_p.Q263* NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 263 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TGCAAACCTTGTTCCTCATAG 0.164 NA 7 6 0 0 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528763 65528763 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:65528763C>T uc003xvj.2 - 3 539 c.335G>A c.(334-336)CGA>CAA p.R112Q NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 112 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGAAAATACTCGAAAGCTTAA 0.313 NA 3 36 0 0 0 0 ENY2 56943 broad.mit.edu 37 8 110355642 110355642 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:110355642C>T uc003ynd.2 + 5 300 c.238C>T c.(238-240)CCT>TCT p.P80S ENY2_uc003ync.2_Missense_Mutation_p.P75S NM_020189 NP_064574 Q9NPA8 ENY2_HUMAN enhancer of yellow 2 homolog 80 histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity 0 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;9.05e-13) AGCCCTGGTACCTGACAGTGT 0.343 NA 49 53 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121222116 121222116 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:121222116G>A uc003yox.2 + 12 1708 c.1443G>A c.(1441-1443)GAG>GAA p.E481E COL14A1_uc003yoy.2_Silent_p.E159E|COL14A1_uc010mde.1_Silent_p.E159E NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 481 Fibronectin type-III 3. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTCTAACAGAGGGCCTGGCTG 0.408 NA 18 49 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121292244 121292244 + Silent SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:121292244C>T uc003yox.2 + 29 3817 c.3552C>T c.(3550-3552)CCC>CCT p.P1184P COL14A1_uc003yoz.2_Silent_p.P149P NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1184 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCAGTAAGCCCAGCGCACGCC 0.443 NA 5 62 0 0 0 0 FBXO32 114907 broad.mit.edu 37 8 124526525 124526525 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:124526525C>T uc003yqr.2 - 5 613 c.421G>A c.(421-423)GCC>ACC p.A141T FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Intron NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 141 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TTCTTTTGGGCGATGCCACTC 0.448 NA 4 31 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139263195 139263195 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:139263195G>A uc003yuy.2 - 6 602 c.431C>T c.(430-432)CCC>CTC p.P144L FAM135B_uc003yux.2_Missense_Mutation_p.P45L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 144 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) ACCATTCCGGGGGTGGAAGTG 0.597 NA HNSCC(54;0.14) 12 134 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144946383 144946383 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:144946383G>A uc003zaa.1 - 1 1052 c.1039C>T c.(1039-1041)CTG>TTG p.L347L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 347 Plectin 7. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCTGACCAGGCCCGCCCTG 0.682 NA 24 15 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144991527 144991527 + Silent SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:144991527C>G uc003zaf.1 - 32 13043 c.12873G>C c.(12871-12873)GTG>GTC p.V4291V PLEC_uc003zab.1_Silent_p.V4154V|PLEC_uc003zac.1_Silent_p.V4158V|PLEC_uc003zad.2_Silent_p.V4154V|PLEC_uc003zae.1_Silent_p.V4122V|PLEC_uc003zag.1_Silent_p.V4132V|PLEC_uc003zah.2_Silent_p.V4140V|PLEC_uc003zaj.2_Silent_p.V4181V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4291 Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGGCCTCGTACACTGACATCT 0.622 NA 6 72 0 0 0 0 SPATC1 375686 broad.mit.edu 37 8 145096194 145096194 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:145096194G>A uc011lkw.1 + 4 1470 c.1368G>A c.(1366-1368)AGG>AGA p.R456R SPATC1_uc011lkx.1_Intron NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 456 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGACCGCAGGATCCTGTCCA 0.622 NA 7 30 0 0 0 0 NFKBIL2 4796 broad.mit.edu 37 8 145662239 145662239 + Silent SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:145662239T>C uc011llg.1 - 15 1806 c.1791A>G c.(1789-1791)GAA>GAG p.E597E uc011llh.1_RNA NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 597 ANK 3. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGGTGATGCCTTCGCAGCCCT 0.657 NA 46 54 0 0 0 0 ZNF251 90987 broad.mit.edu 37 8 145948557 145948557 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr8:145948557C>G uc003zdv.3 - 5 744 c.488G>C c.(487-489)AGA>ACA p.R163T NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TGTTAAAACTCTCTTGTGAAT 0.478 NA 26 87 0 0 0 0 BNC2 54796 broad.mit.edu 37 9 16419593 16419593 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:16419593G>A uc003zml.2 - 7 2834 c.2694C>T c.(2692-2694)GAC>GAT p.D898D BNC2_uc011lmw.1_Silent_p.D803D|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.D685D NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 898 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CCAGGCCCATGTCATCGAGTT 0.542 NA 42 14 0 0 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786060 19786060 + Missense_Mutation SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:19786060G>A uc003zoa.1 - 1 867 c.805C>T c.(805-807)CTC>TTC p.L269F SLC24A2_uc003zob.1_Missense_Mutation_p.L269F NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 269 Helical; (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GCTGTTAAGAGAAGCAAGCTT 0.393 NA 14 39 0 0 0 0 IFT74 80173 broad.mit.edu 37 9 27056421 27056421 + Silent SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:27056421A>G uc010mja.2 + 18 1714 c.1587A>G c.(1585-1587)CTA>CTG p.L529L IFT74_uc010mjb.2_Silent_p.L529L|IFT74_uc003zqg.3_Silent_p.L529L NM_001099223 NP_001092693 Q96LB3 IFT74_HUMAN coiled-coil domain containing 2 isoform a 529 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum skin(1) 1 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) ATGAGGCACTAAAAACACAAT 0.308 NA 21 27 0 0 0 0 NUDT2 318 broad.mit.edu 37 9 34339067 34339067 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:34339067C>G uc003zub.2 + 4 388 c.30C>G c.(28-30)ATC>ATG p.I10M NUDT2_uc003zuc.2_Missense_Mutation_p.I10M|NUDT2_uc003zud.2_Missense_Mutation_p.I10M NM_001161 NP_001152 P50583 AP4A_HUMAN nudix-type motif 2 10 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding 0 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GCTTGATCATCTTCCGAAGAT 0.428 NA 14 41 0 0 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375945 93375945 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:93375945G>A uc004aqx.1 - 2 276 c.165C>T c.(163-165)TGC>TGT p.C55C NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Di-Ras2 55 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity 0 TCTGCAATGTGCATATGCTCT 0.567 NA 73 23 0 0 0 0 ZNF462 58499 broad.mit.edu 37 9 109734354 109734354 + Missense_Mutation SNP A A T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:109734354A>T uc004bcz.2 + 8 6785 c.6496A>T c.(6496-6498)AGG>TGG p.R2166W ZNF462_uc010mto.2_Missense_Mutation_p.R2075W|ZNF462_uc004bda.2_Missense_Mutation_p.R2074W|ZNF462_uc011lvz.1_Missense_Mutation_p.R123W|ZNF462_uc004bdb.1_Missense_Mutation_p.R74W NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TGCCCTGGCAAGGAACAACAG 0.527 NA 48 15 0 0 0 0 MUSK 4593 broad.mit.edu 37 9 113538912 113538912 + Missense_Mutation SNP A A C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:113538912A>C uc004bey.2 + 10 1459 c.1361A>C c.(1360-1362)GAT>GCT p.D454A MUSK_uc004bez.1_Intron NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 454 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TCCCCTTCAGATTATAACAAA 0.338 NA 18 56 0 0 0 0 TLR4 7099 broad.mit.edu 37 9 120475917 120475917 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:120475917C>G uc004bjz.2 + 3 1802 c.1511C>G c.(1510-1512)TCT>TGT p.S504C TLR4_uc004bka.2_Missense_Mutation_p.S464C|TLR4_uc004bkb.2_Missense_Mutation_p.S304C NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 504 LRR 16.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTGGACCTCTCTCAGTGTCAA 0.438 NA 10 51 0 0 0 0 GOLGA2 2801 broad.mit.edu 37 9 131022757 131022757 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:131022757C>G uc011maw.1 - 17 1677 c.1664G>C c.(1663-1665)GGA>GCA p.G555A GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Missense_Mutation_p.G28A|uc004bun.2_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 555 Potential. Golgi cisterna membrane protein binding ovary(1) 1 CTTTACAAATCCGCTCTGCAG 0.612 NA 12 57 0 0 0 0 PRRX2 51450 broad.mit.edu 37 9 132481518 132481518 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr9:132481518C>T uc004byh.2 + 2 495 c.268C>T c.(268-270)CCC>TCC p.P90S NM_016307 NP_057391 Q99811 PRRX2_HUMAN paired related homeobox 2 90 P -> S (in Ref. 5; AAB39864). nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 Ovarian(14;0.00556) AGGTGAGTGTCCCAGCCCGGG 0.657 NA 6 3 0 0 0 0 DDX53 168400 broad.mit.edu 37 X 23018798 23018798 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chrX:23018798G>C uc004daj.2 + 1 712 c.624G>C c.(622-624)TTG>TTC p.L208F NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 208 nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 GTGATGACTTGAAAAGTGGTG 0.378 NA 15 14 0 0 0 0 CYLC1 1538 broad.mit.edu 37 X 83128670 83128670 + Silent SNP G G A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chrX:83128670G>A uc004eei.1 + 4 975 c.954G>A c.(952-954)AAG>AAA p.K318K CYLC1_uc004eeh.1_Silent_p.K317K NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 318 2 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AAAATGTCAAGAAAGATGACA 0.299 NA 22 6 0 0 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106097447 106097447 + Missense_Mutation SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chrX:106097447A>G uc004emo.2 + 14 2438 c.2273A>G c.(2272-2274)TAT>TGT p.Y758C MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 758 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 AATATTCGCTATGAAGATATA 0.353 NA 25 6 0 0 0 0 ACSL4 2182 broad.mit.edu 37 X 108912328 108912328 + Missense_Mutation SNP G G C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chrX:108912328G>C uc004eoi.2 - 11 1705 c.1200C>G c.(1198-1200)TTC>TTG p.F400L ACSL4_uc004eoj.2_Missense_Mutation_p.F359L|ACSL4_uc004eok.2_Missense_Mutation_p.F359L|ACSL4_uc010npp.1_Missense_Mutation_p.F400L NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 400 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) ACCCTATCTTGAACAGAGTTT 0.323 NA 14 33 0 0 0 0 CDK11B 984 broad.mit.edu 37 1 1650883 1650885 + In_Frame_Del DEL TCT TCT - rs147453611 by1000genomes TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:1650883_1650885delTCT uc001agv.1 - 6 348_350 c.237_239delAGA c.(235-240)GAAGAT>GAT p.E79del CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_In_Frame_Del_p.E45del|CDK11B_uc001agw.1_In_Frame_Del_p.E45del|CDK11B_uc001agy.1_In_Frame_Del_p.E79del|CDK11B_uc001agx.1_In_Frame_Del_p.E79del|CDK11B_uc001agz.1_Translation_Start_Site|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_In_Frame_Del_p.E79del|CDK11A_uc009vks.2_In_Frame_Del_p.E79del|CDK11A_uc010nys.1_In_Frame_Del_p.E79del|CDK11A_uc010nyt.1_In_Frame_Del_p.E79del|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_In_Frame_Del_p.E79del|CDK11A_uc009vku.1_In_Frame_Del_p.E79del|CDK11A_uc009vkv.1_In_Frame_Del_p.E79del|CDK11A_uc001aht.1_In_Frame_Del_p.E79del|CDK11B_uc001ahu.1_In_Frame_Del_p.E79del|CDK11B_uc001ahv.1_In_Frame_Del_p.E79del|CDK11B_uc001ahw.1_In_Frame_Del_p.E79del NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 79 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 CAAAGAATCATCTTCTTCTCCTC 0.394 NA 30 286 --- --- --- --- NA NA NA NA ZNF436 80818 broad.mit.edu 37 1 23689135 23689136 + Frame_Shift_Ins INS - - CA TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr1:23689135_23689136insCA uc001bgt.2 - 3 1120_1121 c.739_740insTG c.(739-741)GAGfs p.E247fs ZNF436_uc001bgu.2_Frame_Shift_Ins_p.E247fs NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) ATAGGGTTTCTCACCACTGTGG 0.5 NA 33 53 --- --- --- --- NA NA NA NA SPTBN2 6712 broad.mit.edu 37 11 66460538 66460557 + Frame_Shift_Del DEL GCTTCTTCACCTCTGCCTGG GCTTCTTCACCTCTGCCTGG - TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr11:66460538_66460557delGCTTCTTCACCTCTGCCTGG uc001ojd.2 - 24 4941_4960 c.4869_4888delCCAGGCAGAGGTGAAGAAGC c.(4867-4890)GCCCAGGCAGAGGTGAAGAAGCACfs p.A1623fs NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1623_1630 Spectrin 13. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AGCACCTGGTGCTTCTTCACCTCTGCCTGGGCACTCAGCT 0.632 NA 9 53 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49445184 49445184 + Frame_Shift_Del DEL A A - TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr12:49445184delA uc001rta.3 - 10 2282 c.2282delT c.(2281-2283)CTAfs p.L761fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 761 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTGCGGAGATAGGTGTGGCTC 0.697 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 9 39 --- --- --- --- NA NA NA NA ZNF174 7727 broad.mit.edu 37 16 3452111 3452111 + Frame_Shift_Del DEL A A - TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr16:3452111delA uc002cvc.2 + 1 922 c.107delA c.(106-108)CAAfs p.Q36fs ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Frame_Shift_Del_p.Q36fs|ZNF174_uc002cvb.2_Frame_Shift_Del_p.Q36fs NM_003450 NP_003441 Q15697 ZN174_HUMAN zinc finger protein 174 isoform a 36 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 CCTCCTCTGCAAAAAAACTGC 0.502 NA 7 227 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577062 7577062 + Frame_Shift_Del DEL T T - TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr17:7577062delT uc002gim.2 - 8 1070 c.876delA c.(874-876)AAAfs p.K292fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.K292fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K160fs|TP53_uc010cng.1_Frame_Shift_Del_p.K160fs|TP53_uc002gii.1_Frame_Shift_Del_p.K160fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K292fs|TP53_uc010cni.1_Frame_Shift_Del_p.K292fs|TP53_uc002gij.2_Frame_Shift_Del_p.K292fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 292 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> Q (in a sporadic cancer; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> T (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). KK->RR: Abolishes polyubiquitination by MKRN1. 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.K291fs*48(8)|p.0?(7)|p.K292R(5)|p.K292T(4)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.K292E(2)|p.K292fs*13(1)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.K292*(1)|p.V272_K292del21(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) GAGGCTCCCCTTTCTTGCGGA 0.572 111 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) 22 20 --- --- --- --- NA NA NA NA IL28A 282616 broad.mit.edu 37 19 39760455 39760455 + Frame_Shift_Del DEL A A - TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:39760455delA uc002oku.1 + 5 550 c.498delA c.(496-498)CCAfs p.P166fs NM_172138 NP_742150 Q8IZJ0 IL28A_HUMAN interleukin 28A precursor 166 response to virus extracellular space cytokine activity ovary(1)|skin(1) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGGAGGCCCCAAAAAAGGTGA 0.677 NA 15 27 --- --- --- --- NA NA NA NA FGF21 26291 broad.mit.edu 37 19 49260229 49260229 + Frame_Shift_Del DEL G G - TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr19:49260229delG uc002pkn.1 + 3 854 c.282delG c.(280-282)TTGfs p.L94fs FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Frame_Shift_Del_p.L94fs NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 precursor 94 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTCAAATCTTGGGAGTCAAGA 0.577 NA 30 130 --- --- --- --- NA NA NA NA IAH1 285148 broad.mit.edu 37 2 9624665 9624666 + Frame_Shift_Ins INS - - T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr2:9624665_9624666insT uc002qzr.2 + 5 576_577 c.550_551insT c.(550-552)ATGfs p.M184fs IAH1_uc002qzs.2_Frame_Shift_Ins_p.M71fs|IAH1_uc002qzt.2_Frame_Shift_Ins_p.M71fs|IAH1_uc010yiz.1_RNA NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog 184 lipid catabolic process hydrolase activity, acting on ester bonds 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTGGACCCTGATGCAGGACAGC 0.515 NA 25 34 --- --- --- --- NA NA NA NA PDZD2 23037 broad.mit.edu 37 5 32089442 32089443 + Frame_Shift_Ins INS - - TCGT TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr5:32089442_32089443insTCGT uc003jhl.2 + 20 6276_6277 c.5888_5889insTCGT c.(5887-5889)CCTfs p.P1963fs PDZD2_uc003jhm.2_Frame_Shift_Ins_p.P1963fs NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1963 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGCAAGCCACCTCTTGCCACCT 0.604 NA 27 93 --- --- --- --- NA NA NA NA PRPH2 5961 broad.mit.edu 37 6 42666201 42666202 + Frame_Shift_Ins INS - - T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dfcb7c6e-b0f4-4557-9669-4c580d1093a0 46e82d02-3ae8-46f0-9615-e8b9ca710f23 g.chr6:42666201_42666202insT uc003osk.2 - 3 1158_1159 c.872_873insA c.(871-873)GATfs p.D291fs NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 291 Cytoplasmic (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TGGACACACCATCCAGCGACGT 0.589 NA 10 41 --- --- --- --- NA NA NA NA