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 FBXO2 26232 broad.mit.edu 37 1 11708856 11708856 + Silent SNP C C T rs141266599 byFrequency TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr1:11708856C>T uc001asj.2 - 6 1128 c.786G>A c.(784-786)CCG>CCA p.P262P FBXO2_uc009vna.2_Silent_p.P265P NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 262 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity 0 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) AGCGGACGCCCGGCCCGTAGT 0.672 NA 8 93 0 0 0 0 IQGAP3 128239 broad.mit.edu 37 1 156509200 156509200 + Nonsense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr1:156509200G>A uc001fpf.2 - 25 3097 c.3022C>T c.(3022-3024)CAG>TAG p.Q1008* NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1008 Ras-GAP. 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) TTGAACAGCTGGAGCAGGAGA 0.517 NA 7 19 0 0 0 0 IQGAP3 128239 broad.mit.edu 37 1 156513967 156513967 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr1:156513967G>A uc001fpf.2 - 21 2512 c.2437C>T c.(2437-2439)CGT>TGT p.R813C NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 813 IQ 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) TAGTGCAGACGCCTCAGGTAT 0.592 NA 16 89 0 0 0 0 RSU1 6251 broad.mit.edu 37 10 16794565 16794565 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr10:16794565G>A uc001iok.2 - 6 873 c.571C>T c.(571-573)CGC>TGC p.R191C RSU1_uc001iol.2_Missense_Mutation_p.R191C|RSU1_uc001iom.2_Missense_Mutation_p.R138C|RSU1_uc001ion.2_Missense_Mutation_p.R191C NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 191 LRR 7. cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) ACGGTGAGGCGGTTCCCCTGA 0.463 NA 21 84 0 0 0 0 OR52J3 119679 broad.mit.edu 37 11 5068241 5068241 + Silent SNP C C G TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr11:5068241C>G uc010qyv.1 + 1 486 c.486C>G c.(484-486)GTC>GTG p.V162V NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 162 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCCCATGGTCTATCTTATCT 0.453 NA 16 35 0 0 0 0 OR8J1 219477 broad.mit.edu 37 11 56128083 56128083 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr11:56128083G>A uc010rjh.1 + 1 361 c.361G>A c.(361-363)GAC>AAC p.D121N NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GATGGCCTATGACCGCTATGT 0.488 NA 10 80 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76872053 76872053 + Missense_Mutation SNP A A G TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr11:76872053A>G uc001oyb.2 + 12 1507 c.1235A>G c.(1234-1236)GAC>GGC p.D412G MYO7A_uc010rsl.1_Missense_Mutation_p.D412G|MYO7A_uc010rsm.1_Missense_Mutation_p.D401G|MYO7A_uc001oyc.2_Missense_Mutation_p.D412G NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 412 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 TGGATTGTGGACAAGATCAAC 0.582 NA 4 16 0 0 0 0 NARS2 79731 broad.mit.edu 37 11 78277240 78277240 + Missense_Mutation SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr11:78277240C>T uc001ozi.2 - 4 827 c.451G>A c.(451-453)GTT>ATT p.V151I NARS2_uc010rsq.1_5'UTR NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 151 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) GAACCCAGAACGTTAGTCCTA 0.393 NA 13 63 0 0 0 0 A2ML1 144568 broad.mit.edu 37 12 8994102 8994102 + Silent SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr12:8994102C>T uc001quz.3 + 11 1316 c.1218C>T c.(1216-1218)TCC>TCT p.S406S A2ML1_uc001qva.1_5'Flank NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 250 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TGGAGACATCCGGTTGGAATG 0.473 NA 20 50 0 0 0 0 CPNE6 9362 broad.mit.edu 37 14 24545396 24545396 + Silent SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr14:24545396G>A uc001wll.2 + 11 1062 c.963G>A c.(961-963)AGG>AGA p.R321R CPNE6_uc010tnv.1_Silent_p.R376R|CPNE6_uc001wlm.2_Silent_p.R146R|CPNE6_uc001wln.2_5'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 321 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) GGGACCCGAGGAGCAGCCAGT 0.627 NA 11 53 0 0 0 0 DENND4A 10260 broad.mit.edu 37 15 65959893 65959893 + Missense_Mutation SNP T T A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr15:65959893T>A uc002aph.2 - 28 5381 c.5003A>T c.(5002-5004)CAT>CTT p.H1668L DENND4A_uc002api.2_Missense_Mutation_p.H1711L NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1668 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AACAATTGGATGATGGTCCAC 0.388 NA 12 55 0 0 0 0 CDH13 1012 broad.mit.edu 37 16 83813622 83813622 + Silent SNP C C T rs151311546 by1000genomes TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr16:83813622C>T uc002fgx.2 + 12 1851 c.1731C>T c.(1729-1731)GAC>GAT p.D577D CDH13_uc010vns.1_Silent_p.D624D|CDH13_uc010vnt.1_Silent_p.D323D|CDH13_uc010vnu.1_Silent_p.D538D NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 577 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCCTGGAGGACGTGAATGACA 0.493 NA 8 29 0 0 0 0 SOCS6 9306 broad.mit.edu 37 18 67992652 67992652 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr18:67992652G>A uc002lkr.1 + 2 1064 c.748G>A c.(748-750)GTC>ATC p.V250I SOCS6_uc010dqq.2_Missense_Mutation_p.V250I NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 250 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TCCCATGGAAGTCTCTGCGGT 0.537 NA 18 81 0 0 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219650 4219650 + Silent SNP A A T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr19:4219650A>T uc010dtt.1 + 19 3342 c.3066A>T c.(3064-3066)ACA>ACT p.T1022T NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1022 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AGCTGGCCACAGCAGAGCAGC 0.652 NA 9 68 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8152012 8152012 + Missense_Mutation SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr19:8152012C>T uc002mjf.2 - 53 6724 c.6703G>A c.(6703-6705)GTC>ATC p.V2235I FBN3_uc002mje.2_Missense_Mutation_p.V74I NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2235 EGF-like 36; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGGGGACAGACGCACGCGAAG 0.627 NA 9 58 0 0 0 0 ZNF85 7639 broad.mit.edu 37 19 21132642 21132642 + Missense_Mutation SNP T T C TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr19:21132642T>C uc002npg.3 + 4 1449 c.1322T>C c.(1321-1323)CTT>CCT p.L441P ZNF85_uc010ecn.2_Missense_Mutation_p.L376P|ZNF85_uc010eco.2_Missense_Mutation_p.L389P|ZNF85_uc002npi.2_Missense_Mutation_p.L382P NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 441 C2H2-type 11; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TCCTCAAAACTTACTGAACAT 0.323 NA 3 20 0 0 0 0 RPIA 22934 broad.mit.edu 37 2 89035244 89035244 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr2:89035244G>A uc002ste.2 + 6 627 c.586G>A c.(586-588)GCT>ACT p.A196T NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 196 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) CATCGTGATCGCTGATTTCAG 0.493 NA 35 124 0 0 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968039 102968039 + Silent SNP G G A rs111942110 byFrequency TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr2:102968039G>A uc002tbu.1 + 11 1600 c.1329G>A c.(1327-1329)CGG>CGA p.R443R IL18R1_uc002tbw.3_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 443 TIR.|Cytoplasmic (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 AGAGCAGGCGGCACATTTTCA 0.458 NA 4 54 0 0 0 0 LBP 3929 broad.mit.edu 37 20 37001732 37001732 + Missense_Mutation SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr20:37001732C>T uc002xic.1 + 13 1312 c.1277C>T c.(1276-1278)GCG>GTG p.A426V NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 426 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) CTGTTGGAAGCGCTCCTCAAC 0.398 NA 9 66 0 0 0 0 SLC5A1 6523 broad.mit.edu 37 22 32506120 32506120 + Missense_Mutation SNP C C G TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr22:32506120C>G uc003amc.2 + 15 2147 c.1915C>G c.(1915-1917)CCT>GCT p.P639A SLC5A1_uc011alz.1_Missense_Mutation_p.P512A NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 639 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 CTCTGAGAAGCCTTTGTGGAG 0.493 NA 4 71 0 0 0 0 ELFN2 114794 broad.mit.edu 37 22 37770213 37770213 + Silent SNP G G A rs145219811 TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr22:37770213G>A uc003asq.3 - 3 2148 c.1362C>T c.(1360-1362)CAC>CAT p.H454H NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 454 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) TCTGGGCGGCGTGCACAATGG 0.637 NA 9 166 0 0 0 0 PTH1R 5745 broad.mit.edu 37 3 46944059 46944059 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr3:46944059G>A uc003cqm.2 + 14 1458 c.1255G>A c.(1255-1257)GTC>ATC p.V419I PTH1R_uc003cqn.2_Missense_Mutation_p.V419I NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 419 Helical; Name=6; (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 CCTCTTTGGCGTCCACTACAT 0.567 NA Ollier_disease_/_Maffuci_syndrome 4 8 0 0 0 0 TOPBP1 11073 broad.mit.edu 37 3 133362159 133362159 + Missense_Mutation SNP G G C TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr3:133362159G>C uc003eps.2 - 12 2038 c.1906C>G c.(1906-1908)CCA>GCA p.P636A NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 636 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding p.E636Q(1) ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 ACTGGAACTGGTGTGAAGAGA 0.368 NA Other_conserved_DNA_damage_response_genes 14 47 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155215156 155215156 + Nonsense_Mutation SNP A A T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr3:155215156A>T uc011bok.1 - 14 2088 c.1811T>A c.(1810-1812)TTG>TAG p.L604* PLCH1_uc011boj.1_Nonsense_Mutation_p.L604*|PLCH1_uc011bol.1_Nonsense_Mutation_p.L586* NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 604 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTACACAACCAAATCAGAGAG 0.463 NA 13 85 0 0 0 0 PIGG 54872 broad.mit.edu 37 4 515515 515515 + Silent SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr4:515515C>T uc003gak.3 + 8 1535 c.1399C>T c.(1399-1401)CTG>TTG p.L467L PIGG_uc003gaj.3_Silent_p.L459L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L334L|PIGG_uc003gal.3_Silent_p.L378L|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.H329H|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Silent_p.L378L NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 467 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GGAAGTCCCACTGTCATCTCC 0.532 NA 17 51 0 0 0 0 FAM193A 8603 broad.mit.edu 37 4 2659530 2659530 + Missense_Mutation SNP A A G TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr4:2659530A>G uc010icl.2 + 6 790 c.439A>G c.(439-441)ATG>GTG p.M147V FAM193A_uc010ick.2_Missense_Mutation_p.M347V|FAM193A_uc003gfd.2_Missense_Mutation_p.M147V|FAM193A_uc011bvm.1_Missense_Mutation_p.M171V|FAM193A_uc011bvn.1_Missense_Mutation_p.M147V|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.M1V NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 147 ovary(3) 3 CCCTTACTAGATGACAATGAA 0.333 NA 33 147 0 0 0 0 SLC12A7 10723 broad.mit.edu 37 5 1094337 1094337 + Missense_Mutation SNP G G C TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr5:1094337G>C uc003jbu.2 - 2 217 c.151C>G c.(151-153)CCA>GCA p.P51A NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 51 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TTGAGGAATGGGCTGTTTTCT 0.423 NA 13 116 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35759820 35759820 + Missense_Mutation SNP A A G TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr5:35759820A>G uc003jjo.2 + 25 3730 c.3619A>G c.(3619-3621)AGA>GGA p.R1207G SPEF2_uc003jjp.1_Missense_Mutation_p.R693G NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1207 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGCCAGCTTAGGTAAGGCAG 0.318 NA 29 115 0 0 0 0 CDO1 1036 broad.mit.edu 37 5 115151945 115151945 + Silent SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr5:115151945G>A uc003krg.2 - 1 461 c.150C>T c.(148-150)TAC>TAT p.Y50Y NM_001801 NP_001792 Q16878 CDO1_HUMAN cysteine dioxygenase 50 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity large_intestine(1)|skin(1) 2 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CGAACTTGGCGTACATTGCCC 0.632 NA 23 78 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152557366 152557366 + Missense_Mutation SNP T T A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr6:152557366T>A uc010kiw.2 - 110 20874 c.20272A>T c.(20272-20274)ATA>TTA p.I6758L SYNE1_uc010kiv.2_Missense_Mutation_p.I1282L|SYNE1_uc003qos.3_Missense_Mutation_p.I1282L|SYNE1_uc003qot.3_Missense_Mutation_p.I6687L|SYNE1_uc003qou.3_Missense_Mutation_p.I6758L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6758 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGATGGATATCAGAAGTCGT 0.343 NA HNSCC(10;0.0054) 11 64 0 0 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166918090 166918090 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr6:166918090G>A uc003qvb.1 - 6 689 c.470C>T c.(469-471)ACG>ATG p.T157M RPS6KA2_uc011ego.1_Missense_Mutation_p.T68M|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T68M|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T165M|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T182M NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 157 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) ATCCTCCTCCGTGAACATGAC 0.413 NA 15 68 0 0 0 0 IQCE 23288 broad.mit.edu 37 7 2632713 2632713 + Silent SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr7:2632713C>T uc003smo.3 + 15 1486 c.1302C>T c.(1300-1302)TGC>TGT p.C434C IQCE_uc010ksm.1_Silent_p.C434C|IQCE_uc003sml.1_Silent_p.C434C|IQCE_uc011jvy.1_Silent_p.C418C|IQCE_uc011jvz.1_Silent_p.C369C|IQCE_uc003smk.3_Silent_p.C418C|IQCE_uc003smn.3_Silent_p.C369C NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 434 Potential. 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) agctggagtgcgcgagggagg 0.418 NA 16 84 0 0 0 0 SP4 6671 broad.mit.edu 37 7 21516774 21516774 + Missense_Mutation SNP G G T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr7:21516774G>T uc003sva.2 + 4 1937 c.1756G>T c.(1756-1758)GCT>TCT p.A586S SP4_uc003svb.2_Missense_Mutation_p.A273S NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 586 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 TGGAGGAATTGCTAATGCCAC 0.453 NA 10 38 3.07e-06 3.37e-06 1 0 ABCB1 5243 broad.mit.edu 37 7 87178771 87178771 + Missense_Mutation SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr7:87178771C>T uc003uiz.1 - 15 2036 c.1618G>A c.(1618-1620)GCC>ACC p.A540T ABCB1_uc011khc.1_Missense_Mutation_p.A476T NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 540 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CGTGCAATGGCGATCCTCTGC 0.547 NA 8 184 0 0 0 0 SLC26A4 5172 broad.mit.edu 37 7 107314736 107314736 + Silent SNP A A G TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr7:107314736A>G uc003vep.2 + 5 767 c.543A>G c.(541-543)AGA>AGG p.R181R NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 181 Extracellular (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 CTGCAGCTAGAGATACAGCTA 0.413 NA Pendred_syndrome 11 48 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103293651 103293651 + Silent SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr8:103293651C>T uc003ykr.1 - 41 5826 c.5793G>A c.(5791-5793)GAG>GAA p.E1931E UBR5_uc003yks.1_Silent_p.E1931E NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1931 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CATCAGAATGCTCATCATTAT 0.423 NA 19 111 0 0 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994380 91994380 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr9:91994380G>A uc004aqo.1 - 18 2400 c.1828C>T c.(1828-1830)CTC>TTC p.L610F SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.L608F NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 610 Ig-like C2-type.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 TTGAAGATGAGCAAGTTTTTT 0.517 NA 20 300 0 0 0 0 LHX2 9355 broad.mit.edu 37 9 126777641 126777641 + Silent SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr9:126777641G>A uc004boe.1 + 3 1303 c.564G>A c.(562-564)GCG>GCA p.A188A LHX2_uc010mwi.1_Silent_p.A196A NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 188 Poly-Ala. nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACGTGGCAGCGGCGGCCGCTG 0.677 NA 3 28 0 0 0 0 MED22 6837 broad.mit.edu 37 9 136211174 136211174 + Missense_Mutation SNP C C A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr9:136211174C>A uc004cdc.2 - 4 453 c.219G>T c.(217-219)GAG>GAT p.E73D MED22_uc004cdd.2_Missense_Mutation_p.E73D NM_133640 NP_598395 Q15528 MED22_HUMAN mediator complex subunit 22 isoform b 73 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) TCATCAGGGACTCGCCGGCTC 0.507 NA 4 47 1.24e-05 1.35e-05 1 0 C9orf139 401563 broad.mit.edu 37 9 139929486 139929486 + Missense_Mutation SNP C C T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr9:139929486C>T uc004ckp.1 + 3 2067 c.553C>T c.(553-555)CAC>TAC p.H185Y FUT7_uc004ckq.2_5'Flank NM_207511 NP_997394 Q6ZV77 CI139_HUMAN hypothetical protein LOC401563 185 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) CCCCTCATCTCACCCCACCCA 0.592 NA 17 56 0 0 0 0 TTC7B 145567 broad.mit.edu 37 14 91121355 91121356 + Frame_Shift_Ins INS - - GTAC TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr14:91121355_91121356insGTAC uc001xyp.2 - 12 1562_1563 c.1440_1441insGTAC c.(1438-1443)TACAGTfs p.Y480fs TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 480_481 TPR 5. binding ovary(2) 2 Melanoma(154;0.222) GCCTGCAGACTGTACGTGAGCC 0.559 NA 10 51 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578205 7578206 + Frame_Shift_Ins INS - - T TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr17:7578205_7578206insT uc002gim.2 - 6 837_838 c.643_644insA c.(643-645)AGTfs p.S215fs TP53_uc002gig.1_Frame_Shift_Ins_p.S215fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S215fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S83fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S83fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S83fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S215fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S215fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S215fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.S122fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S83fs|TP53_uc010vug.1_Frame_Shift_Ins_p.S176fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 215 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> R (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S215R(16)|p.S215I(15)|p.0?(7)|p.S215G(6)|p.S215N(6)|p.S215C(5)|p.S215fs*32(4)|p.S215T(3)|p.S215S(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.H214_S215insX(1)|p.D208_V216delDRNTFRHSV(1)|p.S215fs*29(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V216insX(1)|p.R213fs*32(1)|p.R209fs*6(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) CACCACCACACTATGTCGAAAA 0.535 111 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) 21 34 --- --- --- --- NA NA NA NA ZNF98 148198 broad.mit.edu 37 19 22575302 22575302 + Frame_Shift_Del DEL T T - TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr19:22575302delT uc002nqt.2 - 4 857 c.735delA c.(733-735)AAAfs p.K245fs NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 245 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GGTTAAAGGCTTTTCCACACT 0.393 NA 2 4 --- --- --- --- NA NA NA NA TUBA3E 112714 broad.mit.edu 37 2 130949467 130949469 + In_Frame_Del DEL CTT CTT - TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr2:130949467_130949469delCTT uc002tqv.2 - 5 1389_1391 c.1288_1290delAAG c.(1288-1290)AAGdel p.K430del NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 430 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CTTCACAATCCTTCTCTAGAGCT 0.591 NA 17 152 --- --- --- --- NA NA NA NA RASA1 5921 broad.mit.edu 37 5 86672729 86672740 + In_Frame_Del DEL ATGCTTTATCAC ATGCTTTATCAC - TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chr5:86672729_86672740delATGCTTTATCAC uc003kiw.2 + 17 2334_2345 c.2216_2227delATGCTTTATCAC c.(2215-2229)TATGCTTTATCACAT>TAT p.ALSH740del RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.ALSH563del|RASA1_uc011ctv.1_In_Frame_Del_p.ALSH573del|RASA1_uc011ctw.1_In_Frame_Del_p.ALSH574del|RASA1_uc010jaw.2_In_Frame_Del_p.ALSH562del NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 740_743 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CATGTAGTCTATGCTTTATCACATGTATGTGG 0.368 NA 16 47 --- --- --- --- NA NA NA NA ZC3H12B 340554 broad.mit.edu 37 X 64719029 64719037 + In_Frame_Del DEL ACTACCGAG ACTACCGAG - TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ae914215-3b1a-4edb-9f5a-ce4a17154178 5e5678fa-37f6-4987-bca3-33b46233e80a g.chrX:64719029_64719037delACTACCGAG uc010nko.2 + 3 875_883 c.866_874delACTACCGAG c.(865-876)AACTACCGAGAC>AAC p.YRD290del NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 290_292 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 TCCAATGATAACTACCGAGACCTTCAAGT 0.445 NA 17 43 --- --- --- --- NA NA NA NA