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 MSH4 4438 broad.mit.edu 37 1 76282161 76282161 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:76282161G>T uc001dhd.1 + 6 960 c.919G>T c.(919-921)GAA>TAA p.E307* NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 307 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 CCAGGGTAGTGAACAGACAGC 0.318000 MMR SORT1 6272 broad.mit.edu 37 1 109870142 109870142 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:109870142C>T uc001dxm.1 - 12 1502 c.1453G>A c.(1453-1455)GTA>ATA p.V485I SORT1_uc010ovi.1_Missense_Mutation_p.V348I NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 485 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) ACAATGCCTACGGCATTCGGC 0.498000 FCRL5 83416 broad.mit.edu 37 1 157485636 157485636 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:157485636T>C uc001fqu.2 - 16 2998 c.2840A>G c.(2839-2841)AAC>AGC p.N947S FCRL5_uc009wsm.2_Missense_Mutation_p.T944A NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 947 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACTCACCTTGTTCCTGAGATG 0.602000 ABL2 27 broad.mit.edu 37 1 179077710 179077710 + Nonsense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:179077710G>A uc001gmj.3 - 12 2979 c.2692C>T c.(2692-2694)CGA>TGA p.R898* ABL2_uc010pnf.1_Nonsense_Mutation_p.R795*|ABL2_uc010png.1_Nonsense_Mutation_p.R774*|ABL2_uc010pnh.1_Nonsense_Mutation_p.R877*|ABL2_uc001gmg.3_Nonsense_Mutation_p.R780*|ABL2_uc001gmi.3_Nonsense_Mutation_p.R883*|ABL2_uc001gmh.3_Nonsense_Mutation_p.R862*|ABL2_uc010pne.1_Nonsense_Mutation_p.R759* NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 898 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ATCCCAAGTCGTGCCCCACCA 0.612000 T ETV6 AML LHX4 89884 broad.mit.edu 37 1 180241097 180241097 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:180241097C>T uc001goe.1 + 5 957 c.734C>T c.(733-735)TCT>TTT p.S245F uc001gof.1_RNA NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AAGGAGAGCTCTGCAGAGGAC 0.617000 RGL1 23179 broad.mit.edu 37 1 183891428 183891428 + Missense_Mutation SNP G G A rs146832723 TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:183891428G>A uc001gqo.2 + 17 2234 c.2077G>A c.(2077-2079)GCC>ACC p.A693T RGL1_uc001gqm.2_Missense_Mutation_p.A728T|RGL1_uc010pog.1_Missense_Mutation_p.A691T|RGL1_uc010poh.1_Missense_Mutation_p.A691T|RGL1_uc010poi.1_Missense_Mutation_p.A664T NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 693 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CTCAGACCCCGCCGAGGAGTA 0.552000 OREG0014047 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PROX1 5629 broad.mit.edu 37 1 214171517 214171517 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:214171517G>A uc001hkh.2 + 2 1911 c.1639G>A c.(1639-1641)GCC>ACC p.A547T PROX1_uc001hkg.1_Missense_Mutation_p.A547T NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 547 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GCCCAGCACCGCCGAAGGGCT 0.498000 USH2A 7399 broad.mit.edu 37 1 215802319 215802319 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:215802319C>T uc001hku.1 - 71 15743 c.15356G>A c.(15355-15357)CGG>CAG p.R5119Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5119 Cytoplasmic (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACATGCACTCCGGTTGCTGCG 0.512000 HNSCC(13;0.011) OBSCN 84033 broad.mit.edu 37 1 228404826 228404826 + Missense_Mutation SNP G G C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:228404826G>C uc009xez.1 + 8 2534 c.2490G>C c.(2488-2490)TGG>TGC p.W830C OBSCN_uc001hsn.2_Missense_Mutation_p.W830C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 830 Ig-like 8. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACGTGCACTGGTACAAGGATG 0.657000 OR2T6 254879 broad.mit.edu 37 1 248551682 248551682 + Missense_Mutation SNP C C T rs141134612 by1000genomes TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:248551682C>T uc001iei.1 + 1 773 c.773C>T c.(772-774)ACG>ATG p.T258M NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCTTGTATACGTATACGCTT 0.473000 NET1 10276 broad.mit.edu 37 10 5498109 5498109 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr10:5498109C>T uc001iia.2 + 11 1395 c.1257C>T c.(1255-1257)AAC>AAT p.N419N NET1_uc010qar.1_Silent_p.N238N|NET1_uc001iib.2_Silent_p.N365N|NET1_uc010qas.1_Silent_p.N238N NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 419 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 TCACACGGAACGAACGGCACT 0.483000 PTEN 5728 broad.mit.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr10:89692905G>A uc001kfb.2 + 6 1420 c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3). R->M: Does not affect the ability to inhibit AKT/PKB activation. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGAAAGGGACGAACTGGTGTA 0.403000 R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM) 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PDCD11 22984 broad.mit.edu 37 10 105202030 105202030 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr10:105202030C>T uc001kwy.1 + 32 4855 c.4768C>T c.(4768-4770)CGC>TGC p.R1590C NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1590 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GGAACTGTCCCGCATTGAGGA 0.537000 DENND5A 23258 broad.mit.edu 37 11 9167339 9167339 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr11:9167339C>T uc001mhl.2 - 17 3136 c.2881G>A c.(2881-2883)GTA>ATA p.V961I DENND5A_uc001mhk.2_Missense_Mutation_p.V304I|DENND5A_uc010rbw.1_Missense_Mutation_p.V961I|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 961 PLAT. liver(1) 1 TTGCTTGGTACGATCAGAATG 0.488000 ANO3 63982 broad.mit.edu 37 11 26619976 26619976 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr11:26619976C>T uc001mqt.3 + 15 1657 c.1512C>T c.(1510-1512)ATC>ATT p.I504I ANO3_uc010rdr.1_Silent_p.I488I|ANO3_uc010rds.1_Silent_p.I343I|ANO3_uc010rdt.1_Silent_p.I358I NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 504 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGGACCTTATCGAATGGGAAG 0.393000 ADAMTS8 11095 broad.mit.edu 37 11 130284575 130284575 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr11:130284575C>T uc001qgg.3 - 5 1775 c.1417G>A c.(1417-1419)GCC>ACC p.A473T ADAMTS8_uc001qgf.2_5'Flank NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 473 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CAAAGCTGGGCGCAGACGTCC 0.677000 TAS2R7 50837 broad.mit.edu 37 12 10954759 10954759 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr12:10954759G>A uc001qyv.2 - 1 468 c.411C>T c.(409-411)TGC>TGT p.C137C NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 137 Helical; Name=4; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 AGAGAACCACGCACCCCAGTA 0.413000 SLCO1B3 28234 broad.mit.edu 37 12 21068976 21068976 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr12:21068976C>A uc001rek.2 + 15 2030 c.1904C>A c.(1903-1905)CCA>CAA p.P635Q SLCO1B3_uc001rel.2_Missense_Mutation_p.P635Q|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 635 Helical; Name=12; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TTAAGATTCCCAGCACTTGTT 0.294000 TIMELESS 8914 broad.mit.edu 37 12 56824049 56824049 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr12:56824049G>A uc001slf.2 - 10 1094 c.926C>T c.(925-927)TCA>TTA p.S309L TIMELESS_uc001slg.2_Missense_Mutation_p.S308L NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 309 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TCCCAAATCTGAACTGTAGTT 0.512000 RASSF9 9182 broad.mit.edu 37 12 86199380 86199380 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr12:86199380G>A uc001taf.1 - 2 747 c.408C>T c.(406-408)AAC>AAT p.N136N NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 136 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 ATTTTTCTGTGTTTTGCACTA 0.423000 N4BP2L2 10443 broad.mit.edu 37 13 33109952 33109952 + Missense_Mutation SNP T T A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr13:33109952T>A uc001uuk.3 - 2 1391 c.1213A>T c.(1213-1215)ATT>TTT p.I405F N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.I405F|N4BP2L2_uc001uum.2_RNA NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 405 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CTTAAAAGAATAAGTAACTTC 0.338000 KL 9365 broad.mit.edu 37 13 33591098 33591098 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr13:33591098C>T uc001uus.2 + 1 528 c.520C>T c.(520-522)CGG>TGG p.R174W KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 174 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GCGCTACTACCGGCGCCTGCT 0.721000 THBS1 7057 broad.mit.edu 37 15 39877765 39877765 + Splice_Site SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr15:39877765G>A uc001zkh.2 + 7 1299 c.1120_splice c.e7+1 p.P374_splice NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CGCTGTTGGCGTAAGTTTCTC 0.507000 AP3B2 8120 broad.mit.edu 37 15 83346895 83346895 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr15:83346895T>C uc010uoh.1 - 11 1384 c.1207A>G c.(1207-1209)AAT>GAT p.N403D AP3B2_uc010uoi.1_Missense_Mutation_p.N403D|AP3B2_uc010uoj.1_Missense_Mutation_p.N371D|AP3B2_uc010uog.1_Missense_Mutation_p.N39D NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 403 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) TTGGTCTCATTGGCCAGGTTG 0.562000 PLCG2 5336 broad.mit.edu 37 16 81916924 81916924 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr16:81916924G>A uc002fgt.2 + 9 895 c.743G>A c.(742-744)AGG>AAG p.R248K PLCG2_uc010chg.1_Missense_Mutation_p.R248K NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 248 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 GACTTCCAGAGGTTTCTCATA 0.562000 MYH2 4620 broad.mit.edu 37 17 10424715 10424715 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr17:10424715C>T uc010coi.2 - 40 5836 c.5708G>A c.(5707-5709)CGC>CAC p.R1903H uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1903H|MYH2_uc010coj.2_Missense_Mutation_p.R670H NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1903 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTGGAGCTTGCGGAATTTAGC 0.468000 SLC46A1 113235 broad.mit.edu 37 17 26731940 26731940 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr17:26731940C>T uc002hbf.1 - 2 871 c.775G>A c.(775-777)GCC>ACC p.A259T SLC46A1_uc002hbg.1_Missense_Mutation_p.A259T|SLC46A1_uc010wak.1_Missense_Mutation_p.A259T NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 259 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) TTCTCTGGGGCGGGAGCCACA 0.532000 ZNF569 148266 broad.mit.edu 37 19 37904164 37904164 + Missense_Mutation SNP A A G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr19:37904164A>G uc002ogi.2 - 6 1954 c.1396T>C c.(1396-1398)TAT>CAT p.Y466H ZNF569_uc002ogh.2_Missense_Mutation_p.Y307H|ZNF569_uc002ogj.2_Missense_Mutation_p.Y490H NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 466 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTACATATATAGGGTTTTTCC 0.358000 PSG11 5680 broad.mit.edu 37 19 43519445 43519445 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr19:43519445C>T uc002ovm.1 - 4 894 c.787G>A c.(787-789)GCA>ACA p.A263T PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.A269T|PSG11_uc002ovo.1_Missense_Mutation_p.A141T|PSG11_uc002ovp.1_Missense_Mutation_p.A141T NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 263 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) TTAGAGTTTGCGAAGCAGGAC 0.443000 ZNF235 9310 broad.mit.edu 37 19 44791904 44791904 + Nonsense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr19:44791904G>A uc002oza.3 - 5 1787 c.1684C>T c.(1684-1686)CAG>TAG p.Q562* ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Nonsense_Mutation_p.Q558*|ZNF235_uc010xwx.1_Nonsense_Mutation_p.Q476* NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 562 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) TGGACTCTCTGATGATTGTGA 0.458000 CCDC88A 55704 broad.mit.edu 37 2 55523480 55523480 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr2:55523480G>A uc002ryv.2 - 30 5844 c.5002C>T c.(5002-5004)CAC>TAC p.H1668Y CCDC88A_uc010yoz.1_Missense_Mutation_p.H1641Y|CCDC88A_uc010ypa.1_Missense_Mutation_p.H1668Y|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.H170Y|CCDC88A_uc002ryu.2_Missense_Mutation_p.H923Y|CCDC88A_uc002rys.2_Missense_Mutation_p.H626Y|CCDC88A_uc002ryw.2_Missense_Mutation_p.H952Y|CCDC88A_uc010fby.1_Missense_Mutation_p.H520Y NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1669 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTGATCTTGTGATGTCGACTC 0.428000 LRP1B 53353 broad.mit.edu 37 2 141283858 141283858 + Silent SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr2:141283858T>C uc002tvj.1 - 48 8796 c.7824A>G c.(7822-7824)GCA>GCG p.A2608A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2608 Extracellular (Potential).|LDL-receptor class A 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTTGCATCGTGCTGATCTTG 0.428000 TSP Lung(27;0.18) CPS1 1373 broad.mit.edu 37 2 211512631 211512631 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr2:211512631C>A uc002vee.3 + 26 3318 c.3186C>A c.(3184-3186)AAC>AAA p.N1062K CPS1_uc010fur.2_Missense_Mutation_p.N1068K|CPS1_uc010fus.2_Missense_Mutation_p.N611K NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1062 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGATTCCAAACAACCTGGCAG 0.473000 SLC23A3 151295 broad.mit.edu 37 2 220032699 220032699 + Missense_Mutation SNP T T A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr2:220032699T>A uc010zks.1 - 7 977 c.866A>T c.(865-867)GAA>GTA p.E289V NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.E297V|SLC23A3_uc010fwb.2_Missense_Mutation_p.N257Y|SLC23A3_uc002vjs.1_Silent_p.G141G|SLC23A3_uc002vjt.1_Silent_p.G148G NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 289 Cytoplasmic (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCAGACAGTTCCTGGGGGAT 0.512000 KIF1A 547 broad.mit.edu 37 2 241710462 241710462 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr2:241710462C>T uc002vzy.2 - 14 1386 c.1240G>A c.(1240-1242)GCG>ACG p.A414T KIF1A_uc010fzk.2_Missense_Mutation_p.A423T|KIF1A_uc002vzz.1_Missense_Mutation_p.A423T NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 414 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACGGAGGCCGCGCGGCTGGAC 0.647000 SCRT2 85508 broad.mit.edu 37 20 644940 644940 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr20:644940G>A uc002wec.2 - 2 877 c.299C>T c.(298-300)GCG>GTG p.A100V SRXN1_uc002web.2_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN scratch 2 protein 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTCACTGCCGCCTCCCCTCG 0.567000 MAVS 57506 broad.mit.edu 37 20 3838418 3838418 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr20:3838418C>T uc002wjw.3 + 3 423 c.254C>T c.(253-255)GCG>GTG p.A85V MAVS_uc002wjv.2_Missense_Mutation_p.A85V|MAVS_uc010zqn.1_Missense_Mutation_p.A85V|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 85 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 GTTGATCTCGCGGACGAAGTG 0.637000 TSHZ2 128553 broad.mit.edu 37 20 51872642 51872642 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr20:51872642G>A uc002xwo.2 + 2 3601 c.2645G>A c.(2644-2646)CGT>CAT p.R882H NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 882 Homeobox; atypical. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CCACAAGAGCGTATGCAAATC 0.493000 PRAME 23532 broad.mit.edu 37 22 22892267 22892267 + Silent SNP C C T rs34866162 TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr22:22892267C>T uc002zwf.2 - 4 990 c.834G>A c.(832-834)CCG>CCA p.P278P LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.P262P|PRAME_uc010gtr.2_Silent_p.P278P|PRAME_uc002zwg.2_Silent_p.P278P|PRAME_uc002zwh.2_Silent_p.P278P|PRAME_uc002zwi.2_Silent_p.P278P|PRAME_uc002zwj.2_Silent_p.P278P|PRAME_uc002zwk.2_Silent_p.P278P NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 278 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTTCCTTCTCCGGGGAAATGT 0.502000 CNTN6 27255 broad.mit.edu 37 3 1424860 1424860 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:1424860G>A uc003boz.2 + 18 2668 c.2401G>A c.(2401-2403)GAA>AAA p.E801K CNTN6_uc011asj.1_Missense_Mutation_p.E729K|CNTN6_uc003bpa.2_Missense_Mutation_p.E801K NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 801 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGGGGAAGATGGTAAGTTGTC 0.423000 ATP2B2 491 broad.mit.edu 37 3 10401792 10401792 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:10401792C>A uc003bvt.2 - 13 2114 c.1675G>T c.(1675-1677)GGC>TGC p.G559C ATP2B2_uc003bvv.2_Missense_Mutation_p.G514C|ATP2B2_uc003bvw.2_Missense_Mutation_p.G514C|ATP2B2_uc010hdo.2_Missense_Mutation_p.G264C NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 559 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GGCAGGGCGCCCTCCTTCTCT 0.687000 SLC6A20 54716 broad.mit.edu 37 3 45801497 45801497 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:45801497T>C uc011bai.1 - 10 1605 c.1481A>G c.(1480-1482)AAG>AGG p.K494R SLC6A20_uc003cow.2_Missense_Mutation_p.K144R|SLC6A20_uc011baj.1_Missense_Mutation_p.K457R NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 494 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) GGTCATGGCCTTAAGGTCACT 0.532000 SETD2 29072 broad.mit.edu 37 3 47164272 47164272 + Silent SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:47164272T>C uc003cqs.2 - 3 1907 c.1854A>G c.(1852-1854)TCA>TCG p.S618S SETD2_uc003cqv.2_Silent_p.S607S NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 618 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAATCGATTTGATGGAGCTG 0.318000 N|F|S|Mis clear cell renal carcinoma ZBED2 79413 broad.mit.edu 37 3 111312998 111312998 + Silent SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:111312998T>C uc003dxy.2 - 2 936 c.51A>G c.(49-51)AAA>AAG p.K17K CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 17 DNA binding|metal ion binding skin(1) 1 CTAAGTCCCCTTTTGCCTTCA 0.488000 EPHB1 2047 broad.mit.edu 37 3 134851683 134851683 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:134851683C>T uc003eqt.2 + 5 1309 c.1089C>T c.(1087-1089)TGC>TGT p.C363C EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 363 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GCAAAAAGTGCCGGGCAGACC 0.597000 SLITRK3 22865 broad.mit.edu 37 3 164905876 164905876 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:164905876C>T uc003fej.3 - 2 3187 c.2743G>A c.(2743-2745)GTG>ATG p.V915M SLITRK3_uc003fek.2_Missense_Mutation_p.V915M NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 915 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GGAGGGTGCACGTGCAGTTCC 0.532000 HNSCC(40;0.11) PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) GRSF1 2926 broad.mit.edu 37 4 71698070 71698070 + Silent SNP T T A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr4:71698070T>A uc010iia.1 - 4 851 c.768A>T c.(766-768)GGA>GGT p.G256G GRSF1_uc011caz.1_Silent_p.G138G|GRSF1_uc003hfs.2_Silent_p.G94G NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 256 RRM 2. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) TATAAGGAAGTCCTCTCAAAC 0.393000 FRAS1 80144 broad.mit.edu 37 4 79229315 79229315 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr4:79229315G>T uc003hlb.2 + 15 2070 c.1630G>T c.(1630-1632)GAG>TAG p.E544* FRAS1_uc003hkw.2_Nonsense_Mutation_p.E544*|FRAS1_uc003hky.1_Nonsense_Mutation_p.E248*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.E248*|FRAS1_uc003hla.1_Nonsense_Mutation_p.E55* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 544 FU 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGGCGGCTGTGAGAGCAGCTG 0.577000 DKK2 27123 broad.mit.edu 37 4 107847019 107847019 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr4:107847019G>A uc003hyi.2 - 2 1015 c.310C>T c.(310-312)CGG>TGG p.R104W DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.R104W NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 104 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TTTTTTCTCCGACACACCATG 0.512000 INTU 27152 broad.mit.edu 37 4 128628065 128628065 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr4:128628065C>T uc003ifk.1 + 12 2282 c.2212C>T c.(2212-2214)CGG>TGG p.R738W INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 738 ovary(1) 1 GGATGCAGTACGGAAGCAAAG 0.473000 PRDM9 56979 broad.mit.edu 37 5 23521145 23521145 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:23521145C>A uc003jgo.2 + 6 547 c.365C>A c.(364-366)GCG>GAG p.A122E NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 122 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATGCCCAAGGCGTCATTCAGT 0.393000 HNSCC(3;0.000094) MAP1B 4131 broad.mit.edu 37 5 71495207 71495207 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:71495207G>T uc003kbw.3 + 5 6266 c.6025G>T c.(6025-6027)GAA>TAA p.E2009* MAP1B_uc010iyw.1_Nonsense_Mutation_p.E2026*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.E1883*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.E1883* NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2009 MAP1B 7. microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTACTCTTATGAAACCACTGA 0.453000 GPR98 84059 broad.mit.edu 37 5 89943437 89943437 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:89943437G>T uc003kju.2 + 17 3241 c.3145G>T c.(3145-3147)GAG>TAG p.E1049* GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1049 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACTGCAAGAGAGAGAGATTT 0.428000 PCDHA12 56137 broad.mit.edu 37 5 140256419 140256419 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:140256419G>A uc003lic.2 + 1 1489 c.1362G>A c.(1360-1362)GCG>GCA p.A454A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 454 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGCCTGCGTTCGCGCAGC 0.652000 PCDHB7 56129 broad.mit.edu 37 5 140553577 140553577 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:140553577C>T uc003lit.2 + 1 1335 c.1161C>T c.(1159-1161)GAC>GAT p.D387D NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 387 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCAGGACGATGTCCCCT 0.473000 LARP1 23367 broad.mit.edu 37 5 154172296 154172296 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:154172296G>T uc003lvp.2 + 4 1108 c.679G>T c.(679-681)GAA>TAA p.E227* LARP1_uc003lvo.2_Nonsense_Mutation_p.E150*|LARP1_uc010jie.1_Nonsense_Mutation_p.E22* NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 227 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAAATCAGATGAATCAGGGGA 0.522000 FGFR4 2264 broad.mit.edu 37 5 176517537 176517537 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr5:176517537C>T uc003mfl.2 + 3 405 c.238C>T c.(238-240)CGG>TGG p.R80W FGFR4_uc003mfm.2_Missense_Mutation_p.R80W|FGFR4_uc011dfu.1_Missense_Mutation_p.R80W|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.R80W|FGFR4_uc011dfw.1_Missense_Mutation_p.R80W|FGFR4_uc003mfo.2_Missense_Mutation_p.R80W NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 80 Ig-like C2-type 1.|Extracellular (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity p.R80W(2) lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TGGCCGTGTACGGGGCTGGAG 0.652000 TSP Lung(9;0.080) HSPA1L 3305 broad.mit.edu 37 6 31779555 31779555 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr6:31779555G>A uc003nxh.2 - 2 378 c.195C>T c.(193-195)CCC>CCT p.P65P HSPA1L_uc010jte.2_Silent_p.P65P NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 65 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 CAGTGTTCTGGGGATTCATTG 0.498000 KCNK16 83795 broad.mit.edu 37 6 39285601 39285601 + Silent SNP G G A rs79043904 TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr6:39285601G>A uc003ooq.2 - 3 470 c.456C>T c.(454-456)GCC>GCT p.A152A KCNK16_uc003oor.3_Silent_p.A152A|KCNK16_uc010jwy.2_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 152 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 TTTCAATGGCGGCCAGATGGG 0.552000 RNF217 154214 broad.mit.edu 37 6 125366470 125366470 + Nonsense_Mutation SNP C C G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr6:125366470C>G uc003pzs.2 + 4 458 c.120C>G c.(118-120)TAC>TAG p.Y40* RNF217_uc003pzr.2_Nonsense_Mutation_p.Y97*|RNF217_uc003pzt.2_RNA NM_152553 NP_689766 Q8TC41 RN217_HUMAN ring finger protein 217 40 IBR-type. protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) AGTATAAGTACTTCTTGGAAC 0.408000 SLC22A1 6580 broad.mit.edu 37 6 160557340 160557340 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr6:160557340G>A uc003qtc.2 + 5 1033 c.928G>A c.(928-930)GGG>AGG p.G310R SLC22A1_uc003qtd.2_Missense_Mutation_p.G310R NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 310 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCAAAAGAATGGGAAGTTGCC 0.493000 CARD11 84433 broad.mit.edu 37 7 2954991 2954991 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr7:2954991C>T uc003smv.2 - 21 3123 c.2719G>A c.(2719-2721)GAG>AAG p.E907K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 907 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TACTTGTTCTCGGACCTGCTG 0.607000 Mis DLBCL DAGLB 221955 broad.mit.edu 37 7 6449475 6449475 + Missense_Mutation SNP A A G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr7:6449475A>G uc003sqa.2 - 15 2182 c.2012T>C c.(2011-2013)GTG>GCG p.V671A DAGLB_uc003spy.2_Missense_Mutation_p.V217A|DAGLB_uc003spz.2_Missense_Mutation_p.V368A|DAGLB_uc011jwt.1_Missense_Mutation_p.V485A|DAGLB_uc011jwu.1_Missense_Mutation_p.V542A|DAGLB_uc003sqb.2_Missense_Mutation_p.V390A|DAGLB_uc003sqc.2_Missense_Mutation_p.V390A|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V630A NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 671 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TGGTCAGGCCACGTCCACACT 0.587000 SEPT14 346288 broad.mit.edu 37 7 55914311 55914311 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr7:55914311C>T uc003tqz.2 - 3 191 c.74G>A c.(73-75)CGT>CAT p.R25H NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 25 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGTTAAACAACGAATATTATT 0.289000 LAMB4 22798 broad.mit.edu 37 7 107677848 107677848 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr7:107677848T>C uc010ljo.1 - 30 4748 c.4664A>G c.(4663-4665)AAG>AGG p.K1555R LAMB4_uc003vey.2_Missense_Mutation_p.K1555R|LAMB4_uc010ljp.1_Missense_Mutation_p.K524R NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1555 Potential.|Domain I. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGCTTTGGCCTTCACCAAAAG 0.393000 FLNC 2318 broad.mit.edu 37 7 128494220 128494220 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr7:128494220T>C uc003vnz.3 + 40 6886 c.6677T>C c.(6676-6678)CTG>CCG p.L2226P FLNC_uc003voa.3_Missense_Mutation_p.L2193P NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2226 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GGGGACTTCCTGGGCCGGGAG 0.711000 NAT2 10 broad.mit.edu 37 8 18258091 18258091 + Missense_Mutation SNP C C T rs79050330 byFrequency TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr8:18258091C>T uc003wyw.1 + 2 685 c.578C>T c.(577-579)ACG>ATG p.T193M NM_000015 NP_000006 P11245 ARY2_HUMAN N-acetyltransferase 2 193 T -> M. xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity ovary(1)|skin(1) 2 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TACTTATTTACGCTTGAACCT 0.353000 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of ENTPD4 9583 broad.mit.edu 37 8 23291882 23291882 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr8:23291882C>T uc003xdl.2 - 12 1734 c.1570G>A c.(1570-1572)GTT>ATT p.V524I ENTPD4_uc011kzu.1_Missense_Mutation_p.V516I|ENTPD4_uc003xdm.2_Missense_Mutation_p.V516I|ENTPD4_uc011kzv.1_Missense_Mutation_p.V524I NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 524 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GTCCACTGAACCTCCTTGTCG 0.453000 TRIM35 23087 broad.mit.edu 37 8 27156046 27156046 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr8:27156046G>A uc003xfl.1 - 2 548 c.466C>T c.(466-468)CGG>TGG p.R156W TRIM35_uc010lup.1_Intron|TRIM35_uc003xfm.1_RNA NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 156 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) GCCTTCTCCCGCAGTGCATGC 0.602000 SNTG1 54212 broad.mit.edu 37 8 51664620 51664620 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr8:51664620C>A uc010lxy.1 + 19 1715 c.1344C>A c.(1342-1344)AGC>AGA p.S448R SNTG1_uc003xqs.1_Missense_Mutation_p.S448R|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 448 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATGGCAAGAGCAAAATCAAAT 0.358000 RIMS2 9699 broad.mit.edu 37 8 105105703 105105703 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr8:105105703G>A uc003yls.2 + 21 2967 c.2726G>A c.(2725-2727)CGA>CAA p.R909Q RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R982Q|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 365 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TAACAGTATCGATCAGGATGG 0.383000 HNSCC(12;0.0054) MUSK 4593 broad.mit.edu 37 9 113563100 113563100 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr9:113563100C>T uc004bey.2 + 14 2540 c.2442C>T c.(2440-2442)TAC>TAT p.Y814Y MUSK_uc004bez.1_Silent_p.Y394Y NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 814 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TCATTTACTACGTGCGAGATG 0.562000 GOLGA2 2801 broad.mit.edu 37 9 131024860 131024860 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr9:131024860C>T uc011maw.1 - 13 1048 c.1035G>A c.(1033-1035)ACG>ACA p.T345T GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Silent_p.T246T|uc004bun.2_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 345 Potential. Golgi cisterna membrane protein binding ovary(1) 1 GCAGGAGTTCCGTCATCTCTA 0.532000 NLGN4X 57502 broad.mit.edu 37 X 5821174 5821174 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chrX:5821174G>A uc010ndh.2 - 5 2046 c.1545C>T c.(1543-1545)AAC>AAT p.N515N NLGN4X_uc004crp.2_Silent_p.N535N|NLGN4X_uc004crq.2_Silent_p.N515N|NLGN4X_uc010ndi.2_Silent_p.N552N|NLGN4X_uc004crr.2_Silent_p.N515N|NLGN4X_uc010ndj.2_Silent_p.N515N NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 515 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GCATGACGTCGTTCTTGGAAA 0.542000 BCOR 54880 broad.mit.edu 37 X 39923059 39923059 + Nonsense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chrX:39923059G>A uc004den.3 - 8 3941 c.3649C>T c.(3649-3651)CGA>TGA p.R1217* BCOR_uc004dep.3_Nonsense_Mutation_p.R1183*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1165*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.R1183* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1217 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 TGCTCCCATCGTTCTCTAAGG 0.542000 MAGED2 10916 broad.mit.edu 37 X 54836552 54836552 + Missense_Mutation SNP C C G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chrX:54836552C>G uc004dtk.1 + 3 537 c.443C>G c.(442-444)GCC>GGC p.A148G MAGED2_uc004dtl.1_Missense_Mutation_p.A148G|MAGED2_uc004dtm.1_Missense_Mutation_p.A110G|MAGED2_uc010nkc.1_Missense_Mutation_p.A148G|MAGED2_uc004dtn.1_Missense_Mutation_p.A148G|MAGED2_uc004dto.1_Missense_Mutation_p.A122G NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 148 ovary(2)|breast(1) 3 CCCTCTCAGGCCCCAGCAGAT 0.542000 SLITRK2 84631 broad.mit.edu 37 X 144905746 144905746 + Silent SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chrX:144905746G>T uc004fcd.2 + 5 2793 c.1803G>T c.(1801-1803)TCG>TCT p.S601S SLITRK2_uc010nsp.2_Silent_p.S601S|SLITRK2_uc010nso.2_Silent_p.S601S|SLITRK2_uc011mwq.1_Silent_p.S601S|SLITRK2_uc011mwr.1_Silent_p.S601S|SLITRK2_uc011mws.1_Silent_p.S601S|SLITRK2_uc004fcg.2_Silent_p.S601S|SLITRK2_uc011mwt.1_Silent_p.S601S NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 601 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CACCTCGGTCGCTTAGTGTGT 0.438000 ARID1A 8289 broad.mit.edu 37 1 27101593 27101593 + Frame_Shift_Del DEL A A - TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr1:27101593delA uc001bmv.1 + 18 5248 c.4875delA c.(4873-4875)ATAfs p.I1625fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.I1624fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.I1408fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.I1242fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.I471fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_Translation_Start_Site NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1625 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCGCACATAGCACCTGCCC 0.602 Mis|N|F|S|D clear cell ovarian carcinoma|RCC SLC4A10 57282 broad.mit.edu 37 2 162821597 162821599 + In_Frame_Del DEL TTG TTG - TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 g.chr2:162821596_162821598CTTG>C uc002ubx.4 + 22 3256_3258 c.3072_3074CTTG>C c.(3070-3075)gacttg>gaCg p.L1026del SLC4A10_uc010zcs.2_In_Frame_Del_p.L1007del|SLC4A10_uc002uby.4_In_Frame_Del_p.L996del NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 1026 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGTTGATGGACTTGTTGTTCACG 0.369