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 TAS1R3 83756 broad.mit.edu 37 1 1267882 1267882 + Missense_Mutation SNP T T C TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr1:1267882T>C uc010nyk.1 + 3 971 c.971T>C c.(970-972)TTC>TCC p.F324S NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 324 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GTGCTTGGCTTCCTCCAGAGG 0.692000 UBR4 23352 broad.mit.edu 37 1 19446105 19446105 + Silent SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr1:19446105C>T uc001bbi.2 - 70 10405 c.10401G>A c.(10399-10401)CAG>CAA p.Q3467Q UBR4_uc001bbj.1_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3467 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTCCACAAACTGGGCAGCCT 0.468000 UBR4 23352 broad.mit.edu 37 1 19523680 19523680 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr1:19523680G>A uc001bbi.2 - 8 977 c.973C>T c.(973-975)CGT>TGT p.R325C NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 325 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCTTGTAGACGAGAAGGATTG 0.408000 PEAR1 375033 broad.mit.edu 37 1 156883511 156883511 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr1:156883511G>A uc001fqj.1 + 21 2788 c.2672G>A c.(2671-2673)AGC>AAC p.S891N PEAR1_uc001fqk.1_Missense_Mutation_p.S516N NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 891 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGAAGCTACAGCTATAGCTAC 0.597000 ASTN1 460 broad.mit.edu 37 1 177001708 177001708 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr1:177001708C>T uc001glc.2 - 3 961 c.749G>A c.(748-750)CGC>CAC p.R250H ASTN1_uc001glb.1_Missense_Mutation_p.R250H|ASTN1_uc001gld.1_Missense_Mutation_p.R250H|ASTN1_uc009wwx.1_Missense_Mutation_p.R250H|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 250 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CAGATGGTGGCGCAGATCAGT 0.617000 OR2B11 127623 broad.mit.edu 37 1 247614356 247614356 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr1:247614356G>A uc010pyx.1 - 1 929 c.929C>T c.(928-930)GCC>GTC p.A310V NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCAGATCCTGGCCAGAAGTCT 0.448000 ITGA8 8516 broad.mit.edu 37 10 15714730 15714730 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr10:15714730C>T uc001ioc.1 - 7 695 c.695G>A c.(694-696)AGT>AAT p.S232N ITGA8_uc010qcb.1_Missense_Mutation_p.S232N NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 232 FG-GAP 3.|Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ATCTGCAACACTGGCAGTGAT 0.443000 PTER 9317 broad.mit.edu 37 10 16553208 16553208 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr10:16553208G>A uc001iog.1 + 6 1210 c.1003G>A c.(1003-1005)GAT>AAT p.D335N PTER_uc001ioh.1_Missense_Mutation_p.D335N|PTER_uc001ioi.1_Missense_Mutation_p.D335N|PTER_uc009xjp.1_Missense_Mutation_p.D288N NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 335 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 GAATGTGCTTGATAAGATTCT 0.383000 CUBN 8029 broad.mit.edu 37 10 16941012 16941012 + Nonsense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr10:16941012G>A uc001ioo.2 - 54 8633 c.8581C>T c.(8581-8583)CAG>TAG p.Q2861* CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Nonsense_Mutation_p.Q217* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2861 CUB 21. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGCTATTCTGACATTGTCCA 0.408000 MUC6 4588 broad.mit.edu 37 11 1016108 1016108 + Silent SNP A A G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr11:1016108A>G uc001lsw.2 - 31 6744 c.6693T>C c.(6691-6693)GTT>GTC p.V2231V NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2231 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGACACGGTAACAGTGGATA 0.592000 OR51B6 390058 broad.mit.edu 37 11 5373214 5373214 + Silent SNP T T A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr11:5373214T>A uc010qzb.1 + 1 477 c.477T>A c.(475-477)GTT>GTA p.V159V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATAGTTGTTCGCCTACACT 0.483000 RCE1 9986 broad.mit.edu 37 11 66611449 66611449 + Missense_Mutation SNP T T C TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr11:66611449T>C uc001ojk.1 + 3 355 c.311T>C c.(310-312)CTG>CCG p.L104P RCE1_uc001ojl.1_5'UTR NM_005133 NP_005124 Q9Y256 FACE2_HUMAN prenyl protein peptidase RCE1 isoform 1 104 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity ovary(1)|breast(1) 2 CTGCTCACCCTGATGGGCTTC 0.577000 PPFIA1 8500 broad.mit.edu 37 11 70172808 70172808 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr11:70172808C>T uc001opo.2 + 7 1012 c.814C>T c.(814-816)CGC>TGC p.R272C PPFIA1_uc001opn.1_Missense_Mutation_p.R272C|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 272 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) AATGAAAGAACGCCTGGCTTC 0.423000 NPAT 4863 broad.mit.edu 37 11 108043212 108043212 + Missense_Mutation SNP A A C TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr11:108043212A>C uc001pjz.3 - 13 2601 c.2499T>G c.(2497-2499)ATT>ATG p.I833M NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.I628M NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 833 Required for acceleration of G1 phase. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) CTGAAAAAGCAATGCCATCTT 0.393000 PLBD1 79887 broad.mit.edu 37 12 14659923 14659923 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr12:14659923C>T uc001rcc.1 - 9 1477 c.1316G>A c.(1315-1317)CGT>CAT p.R439H NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 439 lipid catabolic process extracellular region hydrolase activity 0 CCCTTGGTCACGCCGGAAAAT 0.408000 SLC11A2 4891 broad.mit.edu 37 12 51390641 51390641 + Missense_Mutation SNP T T C TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr12:51390641T>C uc001rxe.3 - 9 887 c.790A>G c.(790-792)ATC>GTC p.I264V SLC11A2_uc001rxd.3_Missense_Mutation_p.I113V|SLC11A2_uc001rxc.3_Missense_Mutation_p.I264V|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Missense_Mutation_p.I260V|SLC11A2_uc001rxh.1_Missense_Mutation_p.I264V|SLC11A2_uc001rxj.1_Missense_Mutation_p.I264V|SLC11A2_uc001rxi.2_Missense_Mutation_p.I264V|SLC11A2_uc001rxk.1_Missense_Mutation_p.I293V|SLC11A2_uc010smy.1_Missense_Mutation_p.I227V NM_000617 NP_000608 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled 264 Helical; (Potential). activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity large_intestine(1) 1 TGTGGCATGATGACAGCTCCC 0.522000 CCNA1 8900 broad.mit.edu 37 13 37016312 37016312 + Missense_Mutation SNP A A C TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr13:37016312A>C uc001uvr.3 + 8 1567 c.1217A>C c.(1216-1218)GAA>GCA p.E406A CCNA1_uc010teo.1_Missense_Mutation_p.E362A|CCNA1_uc010abq.2_Missense_Mutation_p.E362A|CCNA1_uc010abp.2_Missense_Mutation_p.E362A|CCNA1_uc001uvs.3_Missense_Mutation_p.E405A|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 406 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) GATTAGCCAGAAACCCTTGCT 0.363000 TRIM13 10206 broad.mit.edu 37 13 50586534 50586534 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr13:50586534G>A uc001vdq.1 + 3 771 c.458G>A c.(457-459)CGT>CAT p.R153H DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_5'Flank|KCNRG_uc001vdu.2_5'Flank|TRIM13_uc001vdp.1_Missense_Mutation_p.R156H|TRIM13_uc001vdr.1_Missense_Mutation_p.R153H|TRIM13_uc001vds.1_Missense_Mutation_p.R153H NM_052811 NP_434698 O60858 TRI13_HUMAN ret finger protein 2 isoform 1 153 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) GAGACCTGGCGTCGGGGAGAT 0.453000 EDNRB 1910 broad.mit.edu 37 13 78492255 78492255 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr13:78492255C>T uc001vko.2 - 1 712 c.454G>A c.(454-456)GTC>ATC p.V152I uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.V152I|EDNRB_uc010aez.1_Missense_Mutation_p.V152I|EDNRB_uc001vkp.1_Missense_Mutation_p.V235I|EDNRB_uc010afa.1_Missense_Mutation_p.V152I NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 152 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ATGTCAATGACGATGTGCAGC 0.507000 KIAA1409 57578 broad.mit.edu 37 14 94173133 94173133 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr14:94173133G>A uc001ybv.1 + 48 7409 c.7326G>A c.(7324-7326)TCG>TCA p.S2442S KIAA1409_uc001ybs.1_Silent_p.S2420S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2597 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGCCGGGCTCGGGCCAGAGCA 0.597000 ASB2 51676 broad.mit.edu 37 14 94405616 94405616 + Silent SNP G G A rs140791740 TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr14:94405616G>A uc001ycc.1 - 6 1800 c.1311C>T c.(1309-1311)GCC>GCT p.A437A ASB2_uc001ycb.1_Silent_p.A131A|ASB2_uc001ycd.2_Silent_p.A485A|ASB2_uc001yce.1_Silent_p.A383A NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 437 ANK 12. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GGCACTTCATGGCGAACATGA 0.667000 AQR 9716 broad.mit.edu 37 15 35196621 35196621 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr15:35196621G>A uc001ziv.2 - 19 2098 c.1917C>T c.(1915-1917)ACC>ACT p.T639T NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 639 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GTATAGTATTGGTCATATCTT 0.353000 UNC45B 146862 broad.mit.edu 37 17 33495164 33495164 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr17:33495164G>A uc002hja.2 + 10 1333 c.1236G>A c.(1234-1236)CTG>CTA p.L412L UNC45B_uc002hjb.2_Silent_p.L412L|UNC45B_uc002hjc.2_Silent_p.L412L|UNC45B_uc010cto.2_Silent_p.L412L NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 412 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CCTTTGACCTGGGCAACCAGC 0.572000 DNAI2 64446 broad.mit.edu 37 17 72295860 72295860 + Missense_Mutation SNP G G T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr17:72295860G>T uc002jkf.2 + 7 827 c.728G>T c.(727-729)TGC>TTC p.C243F DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 243 WD 2. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TCACCAGCCTGCTGGGACACC 0.612000 Kartagener_syndrome DUS1L 64118 broad.mit.edu 37 17 80019108 80019108 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr17:80019108G>A uc002kdq.2 - 7 1238 c.819C>T c.(817-819)CAC>CAT p.H273H DUS1L_uc002kdp.2_Silent_p.H142H|DUS1L_uc002kdr.2_Silent_p.H273H|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Silent_p.H256H NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 273 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GCTTGAAGAGGTGGGCCCGGA 0.667000 SYT4 6860 broad.mit.edu 37 18 40850588 40850588 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr18:40850588G>A uc002law.2 - 4 1365 c.996C>T c.(994-996)TAC>TAT p.Y332Y SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.Y314Y|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 332 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TTTTGGCATGGTACAGGTTCA 0.433000 ACTL9 284382 broad.mit.edu 37 19 8808873 8808873 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr19:8808873G>A uc002mkl.2 - 1 300 c.179C>T c.(178-180)ACC>ATC p.T60I NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 60 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 TACCTTACAGGTGCCTGTGCC 0.652000 FCHO1 23149 broad.mit.edu 37 19 17883497 17883497 + Missense_Mutation SNP A A G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr19:17883497A>G uc010ebb.2 + 10 926 c.737A>G c.(736-738)GAG>GGG p.E246G FCHO1_uc002nhg.3_Missense_Mutation_p.E246G|FCHO1_uc002nhh.2_Missense_Mutation_p.E246G|FCHO1_uc010xpw.1_Missense_Mutation_p.E196G|FCHO1_uc010ebc.1_Missense_Mutation_p.E253G NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 246 breast(1) 1 GTCAGCGTGGAGATGCTACTC 0.607000 DPP10 57628 broad.mit.edu 37 2 116572421 116572421 + Missense_Mutation SNP G G T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr2:116572421G>T uc002tla.1 + 20 2210 c.1753G>T c.(1753-1755)GAT>TAT p.D585Y DPP10_uc002tlb.1_Missense_Mutation_p.D535Y|DPP10_uc002tlc.1_Missense_Mutation_p.D581Y|DPP10_uc002tle.2_Missense_Mutation_p.D589Y|DPP10_uc002tlf.1_Missense_Mutation_p.D578Y NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 585 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TATTGACTGGGATTCCGTACT 0.423000 ZAK 51776 broad.mit.edu 37 2 174074513 174074513 + Silent SNP G G A rs145549000 TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr2:174074513G>A uc002uhz.2 + 10 1001 c.801G>A c.(799-801)ACG>ACA p.T267T ZAK_uc002uhx.2_Silent_p.T267T|ZAK_uc002uhy.2_Silent_p.T267T|ZAK_uc010zei.1_Silent_p.T166T|ZAK_uc002uia.1_Silent_p.T267T|uc002uib.2_RNA NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 267 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) CAAATGACACGAGCCTTCCTG 0.468000 BARD1 580 broad.mit.edu 37 2 215646142 215646142 + Silent SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr2:215646142C>T uc002veu.2 - 4 591 c.456G>A c.(454-456)AAG>AAA p.K152K BARD1_uc010zjm.1_Silent_p.K8K NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 152 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATCTGACTTTCTTACTTCGAG 0.358000 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome TTLL4 9654 broad.mit.edu 37 2 219609922 219609922 + Silent SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr2:219609922C>T uc002viy.2 + 6 2122 c.1752C>T c.(1750-1752)CCC>CCT p.P584P TTLL4_uc010zkl.1_Silent_p.P419P|TTLL4_uc010fvx.2_Silent_p.P584P|TTLL4_uc010zkm.1_5'Flank NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 584 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CCAACGTTCCCCCTACCATCT 0.502000 POFUT1 23509 broad.mit.edu 37 20 30818669 30818669 + Missense_Mutation SNP C C A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr20:30818669C>A uc002wxp.2 + 6 832 c.783C>A c.(781-783)TTC>TTA p.F261L POFUT1_uc010ztt.1_Missense_Mutation_p.F153L|POFUT1_uc010ztu.1_Missense_Mutation_p.F50L NM_015352 NP_056167 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 isoform 1 261 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCTCGCACTTCATGGCCTCTC 0.612000 C20orf195 79025 broad.mit.edu 37 20 62187890 62187890 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr20:62187890G>A uc002yfj.2 + 2 966 c.874G>A c.(874-876)GTG>ATG p.V292M C20orf195_uc002yfk.2_Missense_Mutation_p.V292M NM_024059 NP_076964 Q9BVV2 CT195_HUMAN hypothetical protein LOC79025 292 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CTCCACGCTGGTGTACGAGCC 0.612000 RBMS3 27303 broad.mit.edu 37 3 29781274 29781274 + Missense_Mutation SNP G G C TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr3:29781274G>C uc003cel.2 + 5 693 c.463G>C c.(463-465)GAG>CAG p.E155Q RBMS3_uc003cek.2_Missense_Mutation_p.E155Q|RBMS3_uc010hfq.2_Missense_Mutation_p.E155Q|RBMS3_uc003cem.2_Missense_Mutation_p.E154Q|RBMS3_uc010hfr.2_Missense_Mutation_p.E155Q NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 155 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) GGATGAGCAGGAGCTTGAGAA 0.418000 ZBTB11 27107 broad.mit.edu 37 3 101384055 101384055 + Missense_Mutation SNP T T A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr3:101384055T>A uc003dve.3 - 4 1606 c.1376A>T c.(1375-1377)GAT>GTT p.D459V NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGCTGATATATCATTTCCCAT 0.363000 ATR 545 broad.mit.edu 37 3 142215233 142215233 + Silent SNP G G A rs112018640 byFrequency TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr3:142215233G>A uc003eux.3 - 34 5990 c.5868C>T c.(5866-5868)TAC>TAT p.Y1956Y NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1956 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.Y1956Y(2) lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CCCTTTCCACGTACAGTTCAG 0.418000 Other_conserved_DNA_damage_response_genes DEFB131 644414 broad.mit.edu 37 4 9452104 9452104 + Missense_Mutation SNP A A G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr4:9452104A>G uc011bwt.1 + 2 77 c.77A>G c.(76-78)AAT>AGT p.N26S NM_001040448 NP_001035538 P59861 DB131_HUMAN defensin, beta 131 precursor 26 defense response to bacterium extracellular region 0 TTCATTTCTAATGATGAATGT 0.308000 JARID2 3720 broad.mit.edu 37 6 15512493 15512493 + Missense_Mutation SNP C C A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr6:15512493C>A uc003nbj.2 + 14 3251 c.3007C>A c.(3007-3009)CAG>AAG p.Q1003K JARID2_uc011div.1_Missense_Mutation_p.Q831K NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 1003 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GACCGTGCAGCAGAGTGGCCA 0.612000 VARS2 57176 broad.mit.edu 37 6 30890739 30890739 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr6:30890739C>T uc003nsc.1 + 22 2803 c.2171C>T c.(2170-2172)TCC>TTC p.S724F VARS2_uc011dmx.1_Missense_Mutation_p.S724F|VARS2_uc011dmy.1_Missense_Mutation_p.S584F|VARS2_uc011dmz.1_Missense_Mutation_p.S754F|VARS2_uc011dna.1_Missense_Mutation_p.S722F|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S162F|VARS2_uc010jsg.1_Missense_Mutation_p.S96F|VARS2_uc010jsh.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 724 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 ACACTCTGCTCCCATGGAGTT 0.612000 FYN 2534 broad.mit.edu 37 6 112029214 112029214 + Silent SNP A A G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr6:112029214A>G uc003pvj.2 - 5 694 c.354T>C c.(352-354)GAT>GAC p.D118D FYN_uc003pvi.2_Silent_p.D118D|FYN_uc003pvk.2_Silent_p.D118D|FYN_uc003pvh.2_Silent_p.D118D NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 118 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CTTCCCACCAATCTCCTTCCC 0.428000 DNAH11 8701 broad.mit.edu 37 7 21939016 21939016 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:21939016C>T uc003svc.2 + 81 13164 c.13133C>T c.(13132-13134)CCG>CTG p.P4378L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4378 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTTACCCTTCCGGCTGTCGTG 0.537000 Kartagener_syndrome DDC 1644 broad.mit.edu 37 7 50607687 50607687 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:50607687G>A uc003tpf.3 - 3 327 c.241C>T c.(241-243)CCC>TCC p.P81S DDC_uc010kza.2_Missense_Mutation_p.P81S|DDC_uc003tpg.3_Missense_Mutation_p.P81S NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 81 1.|2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CTGGCAGTGGGGAAGTAGGCG 0.637000 MAGI2 9863 broad.mit.edu 37 7 78256458 78256458 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:78256458G>A uc003ugx.2 - 3 770 c.516C>T c.(514-516)CTC>CTT p.L172L MAGI2_uc003ugy.2_Silent_p.L172L|MAGI2_uc011kgr.1_5'UTR|MAGI2_uc011kgs.1_Silent_p.L9L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 172 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CACTTTCTAGGAGAGCACCAC 0.443000 PCLO 27445 broad.mit.edu 37 7 82579972 82579972 + Missense_Mutation SNP T T G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:82579972T>G uc003uhx.2 - 6 10221 c.9932A>C c.(9931-9933)AAG>ACG p.K3311T PCLO_uc003uhv.2_Missense_Mutation_p.K3311T|PCLO_uc010lec.2_Missense_Mutation_p.K276T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3242 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTGCCGAATCTTTTGCTCCTC 0.488000 SLC25A40 55972 broad.mit.edu 37 7 87477182 87477182 + Missense_Mutation SNP C C G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:87477182C>G uc003uje.2 - 7 794 c.443G>C c.(442-444)GGA>GCA p.G148A NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 148 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) GGCTACAATTCCAGCAACAAT 0.318000 C7orf63 79846 broad.mit.edu 37 7 89938590 89938590 + Missense_Mutation SNP T T A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:89938590T>A uc010lep.2 + 22 2815 c.2564T>A c.(2563-2565)CTT>CAT p.L855H C7orf63_uc011khj.1_Missense_Mutation_p.L837H|C7orf63_uc011khk.1_Missense_Mutation_p.L371H NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 855 binding ovary(1) 1 GCAAAAAGCCTTCAAGAAAAA 0.299000 ZKSCAN5 23660 broad.mit.edu 37 7 99117466 99117466 + Silent SNP A A G TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:99117466A>G uc003uqv.2 + 4 694 c.570A>G c.(568-570)CAA>CAG p.Q190Q ZKSCAN5_uc010lfx.2_Silent_p.Q190Q|ZKSCAN5_uc003uqw.2_Silent_p.Q190Q|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 190 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTGTTCTCCAAGTTCCTTCCC 0.527000 SERPINE1 5054 broad.mit.edu 37 7 100773794 100773794 + Missense_Mutation SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr7:100773794G>A uc003uxt.2 + 3 512 c.364G>A c.(364-366)GTC>ATC p.V122I SERPINE1_uc011kkj.1_Missense_Mutation_p.V107I|SERPINE1_uc003uxu.1_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 122 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CGCGATCTTCGTCCAGCGGGA 0.597000 MTSS1 9788 broad.mit.edu 37 8 125603445 125603445 + Silent SNP G G A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr8:125603445G>A uc003yrk.2 - 4 774 c.240C>T c.(238-240)ACC>ACT p.T80T MTSS1_uc003yrj.2_Silent_p.T80T|MTSS1_uc003yrl.2_Silent_p.T80T NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 80 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TGCACATCCTGGTGAGAGCAG 0.517000 C9orf79 286234 broad.mit.edu 37 9 90500005 90500005 + Silent SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr9:90500005C>T uc004app.3 + 4 638 c.603C>T c.(601-603)ACC>ACT p.T201T C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 201 Pro-rich. integral to membrane ovary(3) 3 TGGCCTCCACCCTGTCACCAG 0.622000 SOHLH1 402381 broad.mit.edu 37 9 138588519 138588519 + Silent SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr9:138588519C>T uc004cgl.2 - 5 661 c.600G>A c.(598-600)ACG>ACA p.T200T SOHLH1_uc010nbe.2_Silent_p.T200T NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 200 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CACACTTGTCCGTGCCCAGGG 0.682000 BCOR 54880 broad.mit.edu 37 X 39932669 39932669 + Nonsense_Mutation SNP C C A TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chrX:39932669C>A uc004den.3 - 4 2222 c.1930G>T c.(1930-1932)GAG>TAG p.E644* BCOR_uc004dep.3_Nonsense_Mutation_p.E644*|BCOR_uc004deo.3_Nonsense_Mutation_p.E644*|BCOR_uc004dem.3_Nonsense_Mutation_p.E644*|BCOR_uc004deq.3_Nonsense_Mutation_p.E644* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 644 Pro-rich. heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CTGAATGCCTCATTTGGAGAC 0.547000 PAK3 5063 broad.mit.edu 37 X 110391110 110391110 + Missense_Mutation SNP C C T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chrX:110391110C>T uc004epa.2 + 4 494 c.467C>T c.(466-468)ACA>ATA p.T156I PAK3_uc010npt.1_Missense_Mutation_p.T141I|PAK3_uc010npu.1_Missense_Mutation_p.T141I|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.T141I|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.T177I|PAK3_uc010npw.1_Missense_Mutation_p.T162I NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 156 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 ATGAGCTTTACATCAGGAGGT 0.358000 TSP Lung(19;0.15) GPR112 139378 broad.mit.edu 37 X 135496392 135496392 + Silent SNP G G T rs150960878 byFrequency TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chrX:135496392G>T uc004ezu.1 + 25 9402 c.9111G>T c.(9109-9111)CTG>CTT p.L3037L GPR112_uc010nsb.1_Silent_p.L2832L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 3037 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGCACAAACTGTTGACGCCAT 0.408000 GLYATL2 219970 broad.mit.edu 37 11 58605807 58605807 + Frame_Shift_Del DEL T T - TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr11:58605806_58605806GT>G uc001nnd.4 - 2 245 c.114_114AC>C c.(112-114)aacfs p.N38fs GLYATL2_uc009ymq.3_Frame_Shift_Del_p.N38fs NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 38 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TGTTGAAAGGGTTTTTATCTT 0.428 SERPINB7 8710 broad.mit.edu 37 18 61460423 61460424 + Frame_Shift_Ins INS - - T TCGA-CG-4455-01A-01D-1158-08 TCGA-CG-4455-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2386c96-488e-4ddd-9d4c-fdea808aee19 9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98 g.chr18:61460422_61460423G>GT uc002ljl.3 + 3 343_344 c.247_248G>GT c.(247-249)gttfs p.V83fs SERPINB7_uc002ljm.3_Frame_Shift_Ins_p.V83fs|SERPINB7_uc010xet.2_Frame_Shift_Ins_p.V66fs|SERPINB7_uc010dqg.3_Frame_Shift_Ins_p.V83fs NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 83 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ACTGAAAAGAGTTTTTTCTGAT 0.327