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 MTOR 2475 broad.mit.edu 37 1 11190804 11190804 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:11190804C>T uc001asd.2 - 39 5516 c.5395G>A c.(5395-5397)GAA>AAA p.E1799K MTOR_uc001asc.2_Missense_Mutation_p.E4K NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1799 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 AGCACAGCTTCGAAGTTCATC 0.493 PRAMEF12 390999 broad.mit.edu 37 1 12837525 12837525 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:12837525C>T uc001aui.2 + 3 1262 c.1235C>T c.(1234-1236)CCT>CTT p.P412L NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 412 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCTGTATCCTGCCCCTCTG 0.577 DDI2 84301 broad.mit.edu 37 1 15978327 15978327 + Silent SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:15978327C>A uc001awx.1 + 8 1216 c.1120C>A c.(1120-1122)CGG>AGG p.R374R DDI2_uc009voj.1_Silent_p.R115R NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 374 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGAGGATGTACGGCCAGAGGA 0.512 C1orf64 149563 broad.mit.edu 37 1 16330879 16330879 + Silent SNP C A A rs143498880 byFrequency TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:16330879C>A uc001axn.2 + 1 149 c.81C>A c.(79-81)TCC>TCA p.S27S NM_178840 NP_849162 Q8NEQ6 CA064_HUMAN hypothetical protein LOC149563 27 breast(2) 2 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) AGACCAGCTCCGGTAAGAGGC 0.483 CDA 978 broad.mit.edu 37 1 20945033 20945033 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:20945033G>A uc001bdk.2 + 4 592 c.413G>A c.(412-414)GGG>GAG p.G138E CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA NM_001785 NP_001776 P32320 CDD_HUMAN cytidine deaminase 138 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) TCCTCCTTTGGGCCTGAGGAC 0.542 HSPG2 3339 broad.mit.edu 37 1 22163397 22163397 + Missense_Mutation SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:22163397T>A uc001bfj.2 - 75 10293 c.10253A>T c.(10252-10254)GAG>GTG p.E3418V HSPG2_uc009vqd.2_Missense_Mutation_p.E3419V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3418 Ig-like C2-type 20. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACAGTGGAACTCAACGCTGGC 0.662 ARID1A 8289 broad.mit.edu 37 1 27099916 27099916 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:27099916C>T uc001bmv.1 + 15 4168 c.3795C>T c.(3793-3795)GGC>GGT p.G1265G ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1265 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) GTGCTGCCGGCCCTGGGCTAG 0.607 Mis|N|F|S|D clear cell ovarian carcinoma|RCC CYP4X1 260293 broad.mit.edu 37 1 47498946 47498946 + Nonsense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:47498946G>A uc001cqt.2 + 4 648 c.398G>A c.(397-399)TGG>TAG p.W133* CYP4X1_uc001cqr.2_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.2_Nonsense_Mutation_p.W68* NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 133 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 GGACCCAAGTGGTTCCAGCAT 0.423 SYDE2 84144 broad.mit.edu 37 1 85624724 85624724 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:85624724G>C uc009wcm.2 - 7 3343 c.3294C>G c.(3292-3294)AAC>AAG p.N1098K NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1098 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) TTAAAAAGTAGTTTTCCCCAC 0.388 COL24A1 255631 broad.mit.edu 37 1 86377068 86377068 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:86377068C>T uc001dlj.2 - 25 2653 c.2611G>A c.(2611-2613)GAA>AAA p.E871K COL24A1_uc001dli.2_Missense_Mutation_p.E7K|COL24A1_uc010osd.1_Missense_Mutation_p.E171K|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 871 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ATTACCTTTTCGCCAATGCTT 0.308 NOTCH2 4853 broad.mit.edu 37 1 120510201 120510201 + Silent SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:120510201C>A uc001eik.2 - 8 1564 c.1308G>T c.(1306-1308)ACG>ACT p.T436T NOTCH2_uc001eil.2_Silent_p.T436T|NOTCH2_uc001eim.3_Silent_p.T353T NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 436 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCGCCATCCGTGTTCACAC 0.473 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome TCHH 7062 broad.mit.edu 37 1 152080460 152080460 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:152080460G>A uc001ezp.2 - 2 5233 c.5233C>T c.(5233-5235)CGC>TGC p.R1745C TCHH_uc009wne.1_Missense_Mutation_p.R1745C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1745 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTGTAGCGTTCTTGGCGG 0.587 C1orf14 81626 broad.mit.edu 37 1 182922239 182922239 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:182922239G>A uc001gpu.2 - 1 315 c.30C>T c.(28-30)CCC>CCT p.P10P C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 82 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) ATGAGTCCGCGGGCACCGAGG 0.716 PPP1R12B 4660 broad.mit.edu 37 1 202418229 202418229 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:202418229G>A uc001gya.1 + 13 1924 c.1780G>A c.(1780-1782)GGG>AGG p.G594R PPP1R12B_uc001gxz.1_Missense_Mutation_p.G594R NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 594 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) CACTGCCAATGGGGTTACAGC 0.507 OR2B11 127623 broad.mit.edu 37 1 247614696 247614696 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr1:247614696C>T uc010pyx.1 - 1 589 c.589G>A c.(589-591)GCT>ACT p.A197T NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 197 Extracellular (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) TCATTCACAGCGGTGTCAGCA 0.577 ITGB1 3688 broad.mit.edu 37 10 33211272 33211272 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:33211272C>A uc001iws.3 - 9 1177 c.1041G>T c.(1039-1041)GAG>GAT p.E347D ITGB1_uc001iwp.3_Missense_Mutation_p.E347D|ITGB1_uc001iwq.3_Missense_Mutation_p.E347D|ITGB1_uc001iwr.3_Missense_Mutation_p.E347D|ITGB1_uc001iwt.3_Missense_Mutation_p.E347D|ITGB1_uc001iwu.1_Missense_Mutation_p.E347D NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 347 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) AGTTTTTCAGCTCCTGCAATT 0.348 ALOX5 240 broad.mit.edu 37 10 45936078 45936078 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:45936078C>A uc001jce.2 + 8 1281 c.1182C>A c.(1180-1182)TTC>TTA p.F394L ALOX5_uc009xmt.2_Missense_Mutation_p.F394L|ALOX5_uc010qfg.1_Missense_Mutation_p.F394L NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 394 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) ACCCCATTTTCAAGGTACAGC 0.582 CDH23 64072 broad.mit.edu 37 10 73405621 73405621 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:73405621G>C uc001jrx.3 + 12 1551 c.1174G>C c.(1174-1176)GGG>CGG p.G392R CDH23_uc001jrw.3_Missense_Mutation_p.G392R|CDH23_uc001jry.2_Missense_Mutation_p.G8R|CDH23_uc001jrz.2_Missense_Mutation_p.G8R NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 392 Cadherin 4.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GTACTTGGTGGGGAACAACTC 0.572 SYNPO2L 79933 broad.mit.edu 37 10 75407262 75407262 + Silent SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:75407262A>G uc001jut.3 - 4 2300 c.2148T>C c.(2146-2148)CCT>CCC p.P716P SYNPO2L_uc001jus.3_Silent_p.P492P NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 716 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) TAGGAGTCATAGGGGGCGGGG 0.617 ZMIZ1 57178 broad.mit.edu 37 10 81061939 81061939 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:81061939C>T uc001kaf.2 + 18 2667 c.2095C>T c.(2095-2097)CTC>TTC p.L699F ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 699 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAAGAAGCGCCTCCTGCCCGC 0.627 RPP30 10556 broad.mit.edu 37 10 92660375 92660375 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:92660375G>A uc009xtx.2 + 11 781 c.746G>A c.(745-747)CGG>CAG p.R249Q RPP30_uc001khd.2_Missense_Mutation_p.R249Q NM_006413 NP_006404 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit isoform b 249 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 AAGAAACCTCGGCCATCAGAA 0.423 PDLIM1 9124 broad.mit.edu 37 10 96998437 96998437 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:96998437G>C uc001kkh.2 - 6 800 c.691C>G c.(691-693)CCC>GCC p.P231A PDLIM1_uc001kki.2_Missense_Mutation_p.P231A|PDLIM1_uc009xuv.2_Intron|PDLIM1_uc001kkj.1_Missense_Mutation_p.P231A NM_020992 NP_066272 O00151 PDLI1_HUMAN PDZ and LIM domain 1 231 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GGCTTGTTGGGATCCCCTGAA 0.443 DMBT1 1755 broad.mit.edu 37 10 124358594 124358594 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:124358594C>T uc001lgk.1 + 26 3367 c.3261C>T c.(3259-3261)GAC>GAT p.D1087D DMBT1_uc001lgl.1_Silent_p.D1077D|DMBT1_uc001lgm.1_Silent_p.D588D|DMBT1_uc009xzz.1_Silent_p.D1087D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.D48D NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1087 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATAGTGAAGACGCTGGTGTCA 0.532 DMBT1 1755 broad.mit.edu 37 10 124390740 124390740 + Nonsense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:124390740C>T uc001lgk.1 + 46 6008 c.5902C>T c.(5902-5904)CGA>TGA p.R1968* DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262* NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1968 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTGCCGGAACCGAGGCTGGTT 0.542 DOCK1 1793 broad.mit.edu 37 10 128830507 128830507 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr10:128830507G>A uc001ljt.2 + 18 1836 c.1772G>A c.(1771-1773)AGC>AAC p.S591N DOCK1_uc010qun.1_Missense_Mutation_p.S612N NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 591 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGCATGCAGAGCCTTGGGAGC 0.562 ART5 116969 broad.mit.edu 37 11 3660908 3660908 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:3660908G>C uc001lyb.1 - 2 1144 c.751C>G c.(751-753)CAG>GAG p.Q251E ART5_uc001lyc.1_Missense_Mutation_p.Q251E|ART5_uc001lyd.2_Intron|ART5_uc009yea.2_Intron NM_053017 NP_443750 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 precursor 251 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CTACAGGTCTGATTATAGCTC 0.522 HBE1 3046 broad.mit.edu 37 11 5290821 5290821 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:5290821T>C uc001mal.1 - 2 431 c.178A>G c.(178-180)AAG>GAG p.K60E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 60 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTTGACCTTGGGGTTGCCC 0.507 OR52L1 338751 broad.mit.edu 37 11 6008078 6008078 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:6008078G>A uc001mcd.2 - 1 138 c.83C>T c.(82-84)CCT>CTT p.P28L NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 28 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGAAAAGAAGGCTGGGATAG 0.468 SLC1A2 6506 broad.mit.edu 37 11 35313908 35313908 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:35313908C>T uc001mwd.2 - 7 1609 c.1017G>A c.(1015-1017)GTG>GTA p.V339V SLC1A2_uc001mwe.2_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 339 Helical; (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) TTTTCCTGGTCACTACAAAGT 0.478 CREB3L1 90993 broad.mit.edu 37 11 46321656 46321656 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:46321656C>T uc001ncf.2 + 2 708 c.273C>T c.(271-273)AGC>AGT p.S91S NM_052854 NP_443086 Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 91 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) soft_tissue(6)|ovary(2) 8 GBM - Glioblastoma multiforme(35;0.0285) ACTCCCTGAGCGGCGACTCAG 0.607 T FUS myxofibrosarcoma LRP4 4038 broad.mit.edu 37 11 46916320 46916320 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:46916320G>A uc001ndn.3 - 12 1506 c.1360C>T c.(1360-1362)CTG>TTG p.L454L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 454 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CGGTGTGGCAGCACCTGCCGG 0.567 OR5D14 219436 broad.mit.edu 37 11 55563704 55563704 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:55563704G>C uc010rim.1 + 1 673 c.673G>C c.(673-675)GTG>CTG p.V225L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TTTCATTTTTGTGACTGTACT 0.478 OR6Q1 219952 broad.mit.edu 37 11 57798590 57798590 + Nonsense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:57798590C>T uc010rjz.1 + 1 166 c.166C>T c.(166-168)CGA>TGA p.R56* OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TTTGGACCACCGACTACGGAG 0.478 PLAC1L 219990 broad.mit.edu 37 11 59812205 59812205 + Missense_Mutation SNP A T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:59812205A>T uc001nol.2 + 3 490 c.305A>T c.(304-306)GAT>GTT p.D102V NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 102 extracellular region ovary(2)|skin(1) 3 AGGAATATAGATCATGACCCT 0.408 AHNAK 79026 broad.mit.edu 37 11 62299512 62299512 + Missense_Mutation SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:62299512T>A uc001ntl.2 - 5 2677 c.2377A>T c.(2377-2379)AGC>TGC p.S793C AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 793 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCCTCAATGCTCACATCAGGA 0.502 DPP3 10072 broad.mit.edu 37 11 66252660 66252660 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:66252660C>T uc001oig.1 + 3 349 c.287C>T c.(286-288)GCC>GTC p.A96V DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 96 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 CTGGTCTATGCCGCGGGTGTT 0.592 MMP7 4316 broad.mit.edu 37 11 102395756 102395756 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:102395756G>A uc001phb.2 - 4 571 c.524C>T c.(523-525)ACG>ATG p.T175M MMP7_uc009yxd.2_Missense_Mutation_p.T175M NM_002423 NP_002414 P09237 MMP7_HUMAN matrix metalloproteinase 7 preproprotein 175 Calcium 2; via carbonyl oxygen. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(1) 1 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) ATGAGCCAGCGTGTTTCCTGG 0.478 PPP2R1B 5519 broad.mit.edu 37 11 111631562 111631562 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:111631562C>G uc001plx.1 - 4 604 c.520G>C c.(520-522)GTT>CTT p.V174L PPP2R1B_uc001plw.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 174 HEAT 5. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TCTGCTTTAACAGCATTTGAT 0.438 OR8D1 283159 broad.mit.edu 37 11 124180313 124180313 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:124180313G>C uc010sag.1 - 1 350 c.350C>G c.(349-351)GCC>GGC p.A117G NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ATATGCCATGGCAGTCAGGAG 0.478 CCDC15 80071 broad.mit.edu 37 11 124910501 124910501 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr11:124910501T>C uc001qbm.3 + 16 3009 c.2750T>C c.(2749-2751)CTA>CCA p.L917P NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 917 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) ACTCGGGCACTACATTCATTC 0.393 VWF 7450 broad.mit.edu 37 12 6153612 6153612 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:6153612T>C uc001qnn.1 - 18 2537 c.2287A>G c.(2287-2289)AGG>GGG p.R763G VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 763 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GATAGGCTCCTTTTGCCTCGA 0.522 A2M 2 broad.mit.edu 37 12 9251275 9251275 + Silent SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:9251275G>C uc001qvk.1 - 15 1892 c.1779C>G c.(1777-1779)TCC>TCG p.S593S A2M_uc009zgk.1_Silent_p.S443S NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 593 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GGGCGCAGACGGACTGAGGAG 0.582 MLL2 8085 broad.mit.edu 37 12 49416568 49416568 + Silent SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:49416568C>A uc001rta.3 - 51 16143 c.16143G>T c.(16141-16143)GTG>GTT p.V5381V NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5381 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ACTTGGAGTGCACAAACTGCT 0.587 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) KRT84 3890 broad.mit.edu 37 12 52771859 52771859 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:52771859G>A uc001sah.1 - 9 1810 c.1762C>T c.(1762-1764)CGC>TGC p.R588C NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 588 Tail. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GACACAAAGCGGACGCTGGAG 0.677 KRT74 121391 broad.mit.edu 37 12 52960950 52960950 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:52960950C>T uc001sap.1 - 9 1441 c.1393G>A c.(1393-1395)GTC>ATC p.V465I NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 465 Tail. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) CTGCTGATGACAGCTGAGGAG 0.607 ZBTB39 9880 broad.mit.edu 37 12 57397937 57397937 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:57397937G>T uc001sml.1 - 2 851 c.765C>A c.(763-765)TTC>TTA p.F255L RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TGTTTTTACTGAAGTCTCCAT 0.517 OS9 10956 broad.mit.edu 37 12 58112083 58112083 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:58112083G>A uc001spj.2 + 11 1348 c.1289G>A c.(1288-1290)CGG>CAG p.R430Q OS9_uc010srx.1_Missense_Mutation_p.R224Q|OS9_uc001spk.2_Missense_Mutation_p.R430Q|OS9_uc001spl.2_Missense_Mutation_p.R430Q|OS9_uc001spm.2_Missense_Mutation_p.R430Q|OS9_uc001spn.2_Missense_Mutation_p.R431Q|OS9_uc010sry.1_Missense_Mutation_p.R398Q|OS9_uc010srz.1_Missense_Mutation_p.R371Q NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 430 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) gaggatgaACGGCAGTTACTG 0.413 PAH 5053 broad.mit.edu 37 12 103246597 103246597 + Missense_Mutation SNP C T T rs62508698 TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:103246597C>T uc001tjq.1 - 8 1310 c.838G>A c.(838-840)GAA>AAA p.E280K NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 280 E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) ACTCACGGTTCGGGGGTATAC 0.547 TCTN2 79867 broad.mit.edu 37 12 124156084 124156084 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr12:124156084G>A uc001ufp.2 + 2 241 c.113G>A c.(112-114)GGC>GAC p.G38D TCTN2_uc009zya.2_Missense_Mutation_p.G38D NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 38 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CGAATGTCCGGCCCTGCGGTC 0.617 RNF17 56163 broad.mit.edu 37 13 25363875 25363875 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr13:25363875C>A uc001upr.2 + 9 941 c.900C>A c.(898-900)AAC>AAA p.N300K RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N300K|RNF17_uc001ups.2_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 300 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GTATGTTCAACAATATGGGAA 0.308 BRCA2 675 broad.mit.edu 37 13 32903619 32903619 + Missense_Mutation SNP A T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr13:32903619A>T uc001uub.1 + 8 898 c.671A>T c.(670-672)GAT>GTT p.D224V BRCA2_uc001uua.1_Missense_Mutation_p.D101V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 224 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTTCCTCATGATACTACTGCT 0.259 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) TUBGCP3 10426 broad.mit.edu 37 13 113181294 113181294 + Missense_Mutation SNP A T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr13:113181294A>T uc001vse.1 - 13 1704 c.1517T>A c.(1516-1518)ATG>AAG p.M506K TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.2_Missense_Mutation_p.M506K NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 506 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CACAGCTATCATCTTTGTAGT 0.318 TGM1 7051 broad.mit.edu 37 14 24729739 24729739 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr14:24729739C>T uc001wod.2 - 4 798 c.674G>A c.(673-675)CGC>CAC p.R225H TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 225 R -> P (in ARCI-TGM1).|R -> H (in ARCI-TGM1). cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGATTGTGTGCGGACTGTGAA 0.587 NYNRIN 57523 broad.mit.edu 37 14 24886187 24886187 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr14:24886187G>A uc001wpf.3 + 9 5550 c.5232G>A c.(5230-5232)CTG>CTA p.L1744L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1744 Integrase catalytic. DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TGCCTTTGCTGCACCTGGCCT 0.622 FOXA1 3169 broad.mit.edu 37 14 38061688 38061688 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr14:38061688C>T uc001wuf.2 - 2 613 c.301G>A c.(301-303)GTG>ATG p.V101M FOXA1_uc010tpz.1_Missense_Mutation_p.V68M NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 101 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) ATGGCCGTCACGCCGGCCGCA 0.741 PPM1A 5494 broad.mit.edu 37 14 60749967 60749967 + Silent SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr14:60749967A>G uc010apn.2 + 3 948 c.546A>G c.(544-546)GTA>GTG p.V182V PPM1A_uc001xew.3_Silent_p.V255V|PPM1A_uc001xex.3_Silent_p.V182V|PPM1A_uc001xey.3_Silent_p.V182V NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 182 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) GTGGCTCTGTAATGATTCAGC 0.443 AHNAK2 113146 broad.mit.edu 37 14 105409035 105409035 + Silent SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr14:105409035A>G uc010axc.1 - 7 12873 c.12753T>C c.(12751-12753)GAT>GAC p.D4251D AHNAK2_uc001ypx.2_Silent_p.D4151D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4251 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGTCATCACATCCGCCTTGG 0.642 GABRB3 2562 broad.mit.edu 37 15 26866466 26866466 + Silent SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr15:26866466C>G uc001zaz.2 - 4 598 c.456G>C c.(454-456)GGG>GGC p.G152G GABRB3_uc010uae.1_Silent_p.G67G|GABRB3_uc001zba.2_Silent_p.G152G|GABRB3_uc001zbb.2_Silent_p.G208G|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 152 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGACCTGAGCCCATACAGCA 0.448 TCF12 6938 broad.mit.edu 37 15 57543615 57543615 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr15:57543615C>G uc002aec.2 + 14 1466 c.1182C>G c.(1180-1182)CAC>CAG p.H394Q TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.2_Missense_Mutation_p.H394Q|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.H394Q|TCF12_uc002aed.2_Missense_Mutation_p.H394Q|TCF12_uc002aee.2_Missense_Mutation_p.H224Q|TCF12_uc010bft.2_Missense_Mutation_p.H224Q|TCF12_uc010ugo.1_Missense_Mutation_p.H158Q|TCF12_uc010ugp.1_Missense_Mutation_p.H28Q|TCF12_uc010ugq.1_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 394 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ACTCACTCCACTCCCTGGTAA 0.448 T TEC extraskeletal myxoid chondrosarcoma AQP9 366 broad.mit.edu 37 15 58476317 58476317 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr15:58476317C>T uc002aez.2 + 6 1228 c.871C>T c.(871-873)CTC>TTC p.L291F ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 291 Cytoplasmic (Potential). cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) GAAATATGAACTCAGTGTCAT 0.438 BNC1 646 broad.mit.edu 37 15 83933192 83933192 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr15:83933192C>G uc002bjt.1 - 4 899 c.811G>C c.(811-813)GAC>CAC p.D271H BNC1_uc010uos.1_Missense_Mutation_p.D259H NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 271 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TGACTTTGGTCATGACCCTGC 0.488 CHSY1 22856 broad.mit.edu 37 15 101775678 101775678 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr15:101775678G>T uc002bwt.1 - 3 908 c.425C>A c.(424-426)TCC>TAC p.S142Y NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 142 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGGCGGGTAGGAGTCGTCCAC 0.483 PTX4 390667 broad.mit.edu 37 16 1537375 1537375 + Missense_Mutation SNP A T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr16:1537375A>T uc010uvf.1 - 2 723 c.723T>A c.(721-723)AGT>AGA p.S241R NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 246 extracellular region metal ion binding 0 GGGCAGTCCCACTGAGTACCC 0.677 PKD1 5310 broad.mit.edu 37 16 2160687 2160687 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr16:2160687C>T uc002cos.1 - 15 4690 c.4481G>A c.(4480-4482)CGC>CAC p.R1494H PKD1_uc002cot.1_Missense_Mutation_p.R1494H NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1494 Extracellular (Potential).|PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCTGGCGGGGCGCCCACGGCC 0.652 ADCY7 113 broad.mit.edu 37 16 50349362 50349362 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr16:50349362G>T uc002egd.1 + 25 3457 c.3189G>T c.(3187-3189)AGG>AGT p.R1063S NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 1063 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GCGAGCTGAGGACTTACTTTG 0.572 CES7 221223 broad.mit.edu 37 16 55907825 55907825 + Silent SNP C T T rs113880150 byFrequency TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr16:55907825C>T uc002eip.2 - 2 347 c.198G>A c.(196-198)CCG>CCA p.P66P CES7_uc002eio.2_Silent_p.P66P|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 66 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) GGGATCCCAGCGGGGGAGCAG 0.597 E2F4 1874 broad.mit.edu 37 16 67226947 67226947 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr16:67226947C>G uc002erz.2 + 3 344 c.281C>G c.(280-282)GCT>GGT p.A94G EXOC3L_uc002erv.1_5'Flank|EXOC3L_uc002erw.1_5'Flank|EXOC3L_uc002ery.1_5'Flank|EXOC3L_uc010vje.1_5'Flank|EXOC3L_uc002erx.1_5'Flank NM_001950 NP_001941 Q16254 E2F4_HUMAN E2F transcription factor 4 94 Dimerization (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) CGGGAGATTGCTGACAAACTG 0.612 C17orf100 388327 broad.mit.edu 37 17 6555309 6555309 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:6555309C>A uc010clp.1 + 1 251 c.76C>A c.(76-78)CGC>AGC p.R26S MED31_uc002gdg.3_5'Flank|MED31_uc002gdh.3_5'Flank NM_001105520 NP_001098990 D3DTM5 D3DTM5_HUMAN hypothetical protein LOC388327 26 0 GTCCACGGTCCGCGTGGAGAC 0.736 SLFN13 146857 broad.mit.edu 37 17 33771684 33771684 + Missense_Mutation SNP C T T rs148604980 TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:33771684C>T uc002hjk.1 - 1 1346 c.1016G>A c.(1015-1017)CGC>CAC p.R339H SLFN13_uc010wch.1_Missense_Mutation_p.R339H|SLFN13_uc002hjl.2_Missense_Mutation_p.R339H|SLFN13_uc010ctt.2_Missense_Mutation_p.R21H|SLFN13_uc002hjm.2_Missense_Mutation_p.R8H NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 339 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGTCAAGGGGCGGATGTACTT 0.488 IKZF3 22806 broad.mit.edu 37 17 37985642 37985642 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:37985642C>G uc002hsu.2 - 3 223 c.161G>C c.(160-162)GGA>GCA p.G54A IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Missense_Mutation_p.G54A|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Missense_Mutation_p.G54A|IKZF3_uc010cwf.2_Missense_Mutation_p.G54A|IKZF3_uc010cwg.2_Missense_Mutation_p.G54A|IKZF3_uc002hsw.2_Missense_Mutation_p.G54A|IKZF3_uc002hsx.2_Missense_Mutation_p.G54A|IKZF3_uc002hsy.2_Missense_Mutation_p.G54A|IKZF3_uc002hsz.2_Missense_Mutation_p.G54A|IKZF3_uc002hta.2_Missense_Mutation_p.G54A|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.G54A|IKZF3_uc002htc.2_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 54 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGGCTCACCTCCTATGTCTTC 0.428 NAGS 162417 broad.mit.edu 37 17 42085912 42085912 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:42085912C>A uc002ies.2 + 7 1548 c.1548C>A c.(1546-1548)AAC>AAA p.N516K NAGS_uc010czn.2_Missense_Mutation_p.N524K|NAGS_uc002iet.2_Missense_Mutation_p.N140K NM_153006 NP_694551 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 516 N-acetyltransferase. arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity 0 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) AGTTGGTCAACCACGCCAAGG 0.557 SEPT4 5414 broad.mit.edu 37 17 56603127 56603127 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:56603127C>T uc002iwm.1 - 4 595 c.467G>A c.(466-468)GGC>GAC p.G156D SEPT4_uc002iwk.1_Missense_Mutation_p.G9D|SEPT4_uc010wnw.1_Missense_Mutation_p.G9D|SEPT4_uc002iwl.1_Missense_Mutation_p.G9D|SEPT4_uc002iwn.1_Missense_Mutation_p.G57D|SEPT4_uc002iwo.1_Missense_Mutation_p.G137D|SEPT4_uc002iwp.1_Missense_Mutation_p.G137D|SEPT4_uc010wnx.1_Missense_Mutation_p.G171D|SEPT4_uc010wny.1_Missense_Mutation_p.G148D|SEPT4_uc010dcy.1_Missense_Mutation_p.G38D NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 156 GTP (By similarity). G -> D (in Ref. 7; BAG37789).|GKS->ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding. apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGTGGATTTGCCCAGGCCAGA 0.502 CD7 924 broad.mit.edu 37 17 80274632 80274632 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:80274632C>T uc002kel.1 - 2 417 c.308G>A c.(307-309)CGC>CAC p.R103H CD7_uc010din.2_Missense_Mutation_p.R103H|CD7_uc002kem.2_Silent_p.P84P|CD7_uc010wvk.1_Missense_Mutation_p.R103H NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 103 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CAGCTGCAGGCGGTGCATGGT 0.612 B3GNTL1 146712 broad.mit.edu 37 17 80915279 80915279 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr17:80915279C>G uc002kgg.1 - 9 831 c.817G>C c.(817-819)GGG>CGG p.G273R B3GNTL1_uc002kgf.1_Missense_Mutation_p.G162R|B3GNTL1_uc002kge.1_RNA NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal 273 transferase activity, transferring glycosyl groups ovary(1)|pancreas(1) 2 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AGCCGGCGCCCCTGCTTGCCA 0.692 SMCHD1 23347 broad.mit.edu 37 18 2700592 2700592 + Missense_Mutation SNP A T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:2700592A>T uc002klm.3 + 11 1587 c.1398A>T c.(1396-1398)AGA>AGT p.R466S SMCHD1_uc002klk.3_5'Flank NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 466 chromosome organization ATP binding 0 AAGCAGCTAGAGGGAAAAGGC 0.303 C18orf8 29919 broad.mit.edu 37 18 21089223 21089223 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:21089223C>G uc010xax.1 + 5 509 c.388C>G c.(388-390)CAA>GAA p.Q130E C18orf8_uc010xau.1_Translation_Start_Site|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 130 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) CATAACAGATCAAGGAATCGA 0.294 DSG4 147409 broad.mit.edu 37 18 28968938 28968938 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:28968938G>A uc002kwq.2 + 5 609 c.474G>A c.(472-474)TCG>TCA p.S158S DSG4_uc002kwr.2_Silent_p.S158S NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 158 Cadherin 2.|Extracellular (Potential). Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGTCTTTTCGCAAAGTGTAT 0.413 NOL4 8715 broad.mit.edu 37 18 31432915 31432915 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:31432915G>A uc010dmi.2 - 11 2037 c.1808C>T c.(1807-1809)CCA>CTA p.P603L NOL4_uc010xbs.1_Missense_Mutation_p.P318L|NOL4_uc002kxr.3_Missense_Mutation_p.P375L|NOL4_uc010xbt.1_Missense_Mutation_p.P529L|NOL4_uc010dmh.2_Missense_Mutation_p.P465L|NOL4_uc010xbu.1_Missense_Mutation_p.P539L|NOL4_uc002kxt.3_Missense_Mutation_p.P501L NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 603 nucleolus RNA binding ovary(3) 3 GATTTCAGTTGGACTCAGCTG 0.448 MYO5B 4645 broad.mit.edu 37 18 47405384 47405384 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:47405384G>T uc002leb.2 - 24 3495 c.3207C>A c.(3205-3207)AAC>AAA p.N1069K MYO5B_uc002lea.2_Missense_Mutation_p.N210K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1069 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CCTTCACAAGGTTCTGGTACC 0.488 CCBE1 147372 broad.mit.edu 37 18 57105364 57105364 + Silent SNP C T T rs144169027 TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:57105364C>T uc002lib.2 - 10 1036 c.966G>A c.(964-966)GCG>GCA p.A322A CCBE1_uc010dpq.2_Silent_p.A51A|CCBE1_uc002lia.2_Silent_p.A175A NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 322 Collagen-like 2. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) TGGGCCCAGGCGCTCCTCTCT 0.507 TNFRSF11A 8792 broad.mit.edu 37 18 60033975 60033975 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:60033975C>T uc002lin.2 + 8 803 c.765C>T c.(763-765)GGC>GGT p.G255G TNFRSF11A_uc010dpv.2_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 255 Cytoplasmic (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) AGGCTTGTGGCCGCCTAAGTG 0.403 Paget_Disease_of_Bone RTTN 25914 broad.mit.edu 37 18 67718720 67718720 + Silent SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:67718720G>T uc002lkp.2 - 39 5318 c.5250C>A c.(5248-5250)CTC>CTA p.L1750L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1750 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CTTTCCTCAGGAGCATGGCCA 0.408 SALL3 27164 broad.mit.edu 37 18 76757007 76757007 + Frame_Shift_Del DEL C - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr18:76757007delC uc002lmt.2 + 3 3588 c.3588delC c.(3586-3588)TTCfs p.F1196fs SALL3_uc010dra.2_Frame_Shift_Del_p.F731fs NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CTGAAATGTTCCAGAAGGACC 0.577 TCF3 6929 broad.mit.edu 37 19 1619469 1619469 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:1619469C>G uc002ltr.2 - 15 1239 c.1172G>C c.(1171-1173)AGT>ACT p.S391T TCF3_uc002lto.2_Missense_Mutation_p.S152T|TCF3_uc002ltt.3_Missense_Mutation_p.S391T|TCF3_uc002ltq.2_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 391 Leucine-zipper. B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTATCTTACTCTGCTGCAG 0.682 T PBX1|HLF|TFPT pre B-ALL RFX2 5990 broad.mit.edu 37 19 6007158 6007158 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:6007158C>T uc002meb.2 - 12 1536 c.1267G>A c.(1267-1269)GCC>ACC p.A423T RFX2_uc002mec.2_Missense_Mutation_p.A398T|RFX2_uc002med.1_3'UTR NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 GGCAGGACGGCGCCCTCGGGG 0.662 MAN2B1 4125 broad.mit.edu 37 19 12757445 12757445 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:12757445C>A uc002mub.2 - 24 3101 c.3025G>T c.(3025-3027)GTG>TTG p.V1009L MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 1009 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 TAACCATCCACCTCCTTCCAT 0.602 DCAF15 90379 broad.mit.edu 37 19 14065391 14065391 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:14065391G>A uc002mxt.2 + 3 290 c.284G>A c.(283-285)AGC>AAC p.S95N PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 95 central_nervous_system(1) 1 TCCTACACCAGCAGCAGTGGG 0.582 MAP1S 55201 broad.mit.edu 37 19 17844118 17844118 + Nonsense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:17844118C>T uc002nhe.1 + 6 2914 c.2905C>T c.(2905-2907)CAG>TAG p.Q969* MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Nonsense_Mutation_p.Q217*|MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943* NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 969 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GGAGTTCTTCCAGCGCGTGCG 0.687 ATP13A1 57130 broad.mit.edu 37 19 19756301 19756301 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:19756301C>G uc002nnh.3 - 26 3573 c.3545G>C c.(3544-3546)TGC>TCC p.C1182S GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.3_Missense_Mutation_p.C550S|ATP13A1_uc002nng.2_Missense_Mutation_p.C1064S NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 1182 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 GAGCGCCAGGCAGAAGTCCAG 0.647 GRAMD1A 57655 broad.mit.edu 37 19 35512755 35512755 + Silent SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:35512755C>A uc010xse.1 + 15 1877 c.1740C>A c.(1738-1740)GGC>GGA p.G580G GRAMD1A_uc002nxk.2_Silent_p.G573G|GRAMD1A_uc002nxl.2_Silent_p.G346G|GRAMD1A_uc010xsf.1_Silent_p.G585G|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.G195G NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 580 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCCGGGCCGGCATTCACACCT 0.711 ZNF565 147929 broad.mit.edu 37 19 36673611 36673611 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:36673611G>A uc002odn.2 - 5 1365 c.1257C>T c.(1255-1257)TAC>TAT p.Y419Y ZNF565_uc010ees.2_Silent_p.Y354Y|ZNF565_uc002odo.2_Silent_p.Y419Y NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 419 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) CCTTACATTCGTAGGGTTTGT 0.448 SIRT2 22933 broad.mit.edu 37 19 39371782 39371782 + Missense_Mutation SNP A C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:39371782A>C uc002ojt.1 - 11 905 c.705T>G c.(703-705)TTT>TTG p.F235L RINL_uc002ojq.2_5'Flank|RINL_uc010xuo.1_5'Flank|SIRT2_uc010egh.1_Missense_Mutation_p.F198L|SIRT2_uc010egi.1_Missense_Mutation_p.F198L|SIRT2_uc002ojs.1_Missense_Mutation_p.F215L|SIRT2_uc002oju.1_Missense_Mutation_p.F198L|SIRT2_uc010egj.1_Missense_Mutation_p.F198L|SIRT2_uc002ojv.1_Missense_Mutation_p.F233L NM_012237 NP_036369 Q8IXJ6 SIRT2_HUMAN sirtuin 2 isoform 1 235 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) GGCTCTCACCAAAAAAGACGA 0.617 PSG5 5673 broad.mit.edu 37 19 43689016 43689016 + Silent SNP G A A rs143404539 byFrequency TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:43689016G>A uc002ovu.2 - 2 479 c.348C>T c.(346-348)GAC>GAT p.D116D PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.D44D|PSG5_uc002ovx.2_Silent_p.D116D|PSG5_uc002ovv.2_Silent_p.D116D|PSG5_uc002ovw.2_Silent_p.D116D NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 116 Ig-like V-type. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) AGGATCCTGCGTCTTCCCGGG 0.438 PRKD2 25865 broad.mit.edu 37 19 47197301 47197301 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:47197301G>A uc002pfh.2 - 11 1749 c.1407C>T c.(1405-1407)ATC>ATT p.I469I PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_5'UTR|PRKD2_uc002pff.2_5'UTR|PRKD2_uc002pfg.2_Silent_p.I312I|PRKD2_uc002pfi.2_Silent_p.I469I|PRKD2_uc002pfj.2_Silent_p.I469I|PRKD2_uc010xye.1_Silent_p.I469I|PRKD2_uc002pfk.2_Silent_p.I312I NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 469 PH. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TGGCAGTGACGATCTCAAAGC 0.647 DHX34 9704 broad.mit.edu 37 19 47879753 47879753 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:47879753C>T uc010xyn.1 + 12 2876 c.2535C>T c.(2533-2535)TTC>TTT p.F845F DHX34_uc010xyo.1_5'Flank NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 845 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTGCGTCTTCGCTGGCAGCC 0.652 ZNF649 65251 broad.mit.edu 37 19 52394397 52394397 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:52394397C>T uc002pxy.2 - 5 1260 c.992G>A c.(991-993)GGC>GAC p.G331D ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GTTGAGATTGCCCTTCTGAAT 0.453 ZNF347 84671 broad.mit.edu 37 19 53645153 53645153 + Missense_Mutation SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:53645153T>A uc002qbb.1 - 5 997 c.928A>T c.(928-930)ATC>TTC p.I310F ZNF347_uc010eql.1_Missense_Mutation_p.I311F|ZNF347_uc002qbc.1_Missense_Mutation_p.I311F NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 310 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) CCAGTATGGATCACCTGATGG 0.388 NLRP7 199713 broad.mit.edu 37 19 55447703 55447703 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:55447703G>A uc002qih.3 - 6 2302 c.2226C>T c.(2224-2226)ATC>ATT p.I742I NLRP7_uc002qig.3_Silent_p.I714I|NLRP7_uc002qii.3_Silent_p.I742I|NLRP7_uc010esk.2_Silent_p.I742I|NLRP7_uc010esl.2_Silent_p.I770I NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 742 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GTTCCCACTCGATGTGCCCTG 0.552 ZNF329 79673 broad.mit.edu 37 19 58640193 58640193 + Silent SNP G A A rs116840582 byFrequency TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr19:58640193G>A uc002qrn.2 - 4 915 c.678C>T c.(676-678)ACC>ACT p.T226T ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GCTTCTCTCCGGTGTGAGTTC 0.433 CIB4 130106 broad.mit.edu 37 2 26805768 26805768 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:26805768G>A uc002rhm.2 - 6 481 c.452C>T c.(451-453)TCG>TTG p.S151L NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 151 EF-hand 3. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCAGATCCGACTCACTCAG 0.542 CAD 790 broad.mit.edu 37 2 27465508 27465508 + Silent SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:27465508G>T uc002rji.2 + 41 6405 c.6243G>T c.(6241-6243)CTG>CTT p.L2081L CAD_uc010eyw.2_Silent_p.L2018L NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 2081 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGGGTGACCTGAAGCACGGAC 0.587 BIRC6 57448 broad.mit.edu 37 2 32710744 32710744 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:32710744G>A uc010ezu.2 + 40 7865 c.7731G>A c.(7729-7731)CAG>CAA p.Q2577Q NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2577 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GACTTGAACAGCAAGCAGAAC 0.373 PRKCE 5581 broad.mit.edu 37 2 46228662 46228662 + Missense_Mutation SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:46228662A>G uc002rut.2 + 7 1140 c.943A>G c.(943-945)AAC>GAC p.N315D NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 315 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CAAAATCACCAACAGCGGCCA 0.552 RAB11FIP5 26056 broad.mit.edu 37 2 73316179 73316179 + Silent SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:73316179T>C uc002siu.3 - 2 937 c.696A>G c.(694-696)AAA>AAG p.K232K RAB11FIP5_uc002sit.3_Silent_p.K154K NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 232 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GGAAGAAGCCTTTGGCTTTGC 0.602 PAX8 7849 broad.mit.edu 37 2 113999249 113999249 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:113999249G>T uc010yxt.1 - 7 822 c.656C>A c.(655-657)CCC>CAC p.P219H PAX8_uc010yxu.1_Missense_Mutation_p.P219H|PAX8_uc010yxv.1_Missense_Mutation_p.P219H|PAX8_uc002tjm.2_Missense_Mutation_p.P219H|PAX8_uc002tjn.2_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 219 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 GTGCTTTCGGGGTCCGCTGCT 0.597 T PPARG follicular thyroid Thyroid dysgenesis TTN 7273 broad.mit.edu 37 2 179407009 179407009 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:179407009C>G uc010zfg.1 - 298 89994 c.89770G>C c.(89770-89772)GAG>CAG p.E29924Q uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23619Q|TTN_uc010zfi.1_Missense_Mutation_p.E23552Q|TTN_uc010zfj.1_Missense_Mutation_p.E23427Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30851 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGCGACACTCTATGACCTCA 0.463 TTN 7273 broad.mit.edu 37 2 179634616 179634616 + Frame_Shift_Del DEL T - - rs78680811 TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:179634616delT uc010zfg.1 - 37 8916 c.8692delA c.(8692-8694)ACTfs p.T2898fs TTN_uc010zfh.1_Frame_Shift_Del_p.T2852fs|TTN_uc010zfi.1_Frame_Shift_Del_p.T2852fs|TTN_uc010zfj.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2898 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAGAGGCAGTTTTGGTCTCA 0.368 MYO1B 4430 broad.mit.edu 37 2 192255148 192255148 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:192255148T>C uc010fsg.2 + 18 2167 c.1912T>C c.(1912-1914)TAT>CAT p.Y638H MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 638 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) CAGGCAGGCCTATGAACCTTG 0.468 TMEFF2 23671 broad.mit.edu 37 2 193049126 193049126 + Silent SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:193049126T>C uc002utc.2 - 3 760 c.366A>G c.(364-366)AAA>AAG p.K122K TMEFF2_uc002utd.1_Silent_p.K122K NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 122 Kazal-like 1.|Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) CACTCTGCTGTTTGCATGCAG 0.473 PAX3 5077 broad.mit.edu 37 2 223096854 223096854 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:223096854G>C uc010fwo.2 - 5 1101 c.735C>G c.(733-735)GAC>GAG p.D245E PAX3_uc002vmt.1_Missense_Mutation_p.D245E|PAX3_uc002vmy.1_Missense_Mutation_p.D244E|PAX3_uc002vmv.1_Missense_Mutation_p.D245E|PAX3_uc002vmw.1_Missense_Mutation_p.D245E|PAX3_uc002vmx.1_Missense_Mutation_p.D245E NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 245 Homeobox. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGTATAAATGTCAGGGTAAT 0.527 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome ESPNL 339768 broad.mit.edu 37 2 239036280 239036280 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:239036280G>C uc002vxq.3 + 7 1230 c.1120G>C c.(1120-1122)GCC>CCC p.A374P ESPNL_uc010fyw.2_Missense_Mutation_p.A70P NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 374 Pro-rich. pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCTCAGCCCGGCCTGGCCTGG 0.672 OR6B3 150681 broad.mit.edu 37 2 240985270 240985270 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:240985270C>T uc010zoe.1 - 1 220 c.220G>A c.(220-222)GTG>ATG p.V74M PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) ATGTCAGACACGTACCAGATC 0.557 MYEOV2 150678 broad.mit.edu 37 2 241066064 241066064 + Frame_Shift_Del DEL T - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:241066064delT uc002vyu.1 - 5 675 c.675delA c.(673-675)AAAfs p.K225fs NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TCTTAAAACATTTACCCCTCC 0.488 MYEOV2 150678 broad.mit.edu 37 2 241069334 241069334 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:241069334C>T uc002vyu.1 - 4 375 c.375G>A c.(373-375)TCG>TCA p.S125S NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TTACCTCTTCCGACACCACAG 0.617 D2HGDH 728294 broad.mit.edu 37 2 242683078 242683078 + Missense_Mutation SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr2:242683078A>G uc002wce.1 + 5 705 c.532A>G c.(532-534)AGC>GGC p.S178G D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.S44G|D2HGDH_uc002wcg.1_RNA NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 178 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GGAGGAGCTGAGCCGGTATGT 0.642 RBCK1 10616 broad.mit.edu 37 20 409649 409649 + Nonsense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr20:409649C>T uc002wdp.3 + 11 2056 c.1363C>T c.(1363-1365)CAG>TAG p.Q455* RBCK1_uc002wdq.3_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Nonsense_Mutation_p.Q285* NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 455 IBR-type 2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) GATCGTGGTACAGAAGAAGGA 0.682 RBPJL 11317 broad.mit.edu 37 20 43936878 43936878 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr20:43936878G>T uc002xns.2 + 2 190 c.118G>T c.(118-120)GGC>TGC p.G40C MATN4_uc002xnn.2_5'UTR|MATN4_uc002xno.2_5'UTR|MATN4_uc002xnp.2_5'UTR|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_5'UTR|RBPJL_uc002xnt.2_Missense_Mutation_p.G40C NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 40 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GAGCCTCCCGGGCACTTGGAC 0.642 GGTLC2 91227 broad.mit.edu 37 22 22989259 22989259 + Missense_Mutation SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr22:22989259T>A uc010gtt.2 + 2 246 c.212T>A c.(211-213)ATC>AAC p.I71N LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.I71N NM_199127 NP_954578 Q14390 GGTL2_HUMAN gamma-glutamyltransferase-like 4 isoform 1 71 glutathione biosynthetic process gamma-glutamyltransferase activity ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23) READ - Rectum adenocarcinoma(21;0.145) GTCAGCGAGATCCTGTTCAAT 0.592 PLA2G6 8398 broad.mit.edu 37 22 38541510 38541510 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr22:38541510C>G uc003auy.1 - 3 496 c.360G>C c.(358-360)TGG>TGC p.W120C PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 120 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) GGGCCACTGACCAGCTGGGGT 0.577 RANGAP1 5905 broad.mit.edu 37 22 41652054 41652054 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr22:41652054G>T uc003azs.2 - 9 2514 c.1044C>A c.(1042-1044)TTC>TTA p.F348L RANGAP1_uc003azt.2_Missense_Mutation_p.F348L|RANGAP1_uc003azu.2_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.1_Missense_Mutation_p.F293L NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 348 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TGGCCATGTTGAAGCCCTCCA 0.552 SBF1 6305 broad.mit.edu 37 22 50904674 50904674 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr22:50904674G>A uc003blh.2 - 8 997 c.802C>T c.(802-804)CCC>TCC p.P268S SBF1_uc011arx.1_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.P269S NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 268 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGCAGGATGGGCACATAGGTG 0.672 DNAH1 25981 broad.mit.edu 37 3 52393305 52393305 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:52393305C>G uc011bef.1 + 26 4571 c.4310C>G c.(4309-4311)ACC>AGC p.T1437S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1437 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCCAGGTGACCATCGCTGGG 0.627 OR5K2 402135 broad.mit.edu 37 3 98216751 98216751 + Missense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:98216751C>G uc011bgx.1 + 1 227 c.227C>G c.(226-228)GCT>GGT p.A76G NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 76 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TGTGCCTGTGCTATTACCCCC 0.413 PPP2R3A 5523 broad.mit.edu 37 3 135721607 135721607 + Nonsense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:135721607G>T uc003eqv.1 + 2 1832 c.1267G>T c.(1267-1269)GGA>TGA p.G423* PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 423 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 AGAGTCAGATGGAAAGAAAGC 0.358 ACPL2 92370 broad.mit.edu 37 3 141006223 141006223 + Nonsense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:141006223G>T uc003etu.2 + 7 732 c.433G>T c.(433-435)GAA>TAA p.E145* ACPL2_uc003etv.2_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.1_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.1_Nonsense_Mutation_p.E128* NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 145 extracellular region acid phosphatase activity skin(1) 1 AGCCTCTTTCGAAAGCCCCTT 0.493 PLCH1 23007 broad.mit.edu 37 3 155198910 155198910 + Missense_Mutation SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:155198910T>A uc011bok.1 - 23 5206 c.4929A>T c.(4927-4929)AAA>AAT p.K1643N PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.K1605N NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1643 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGCCACCCCCTTTCGTGTTCT 0.562 MECOM 2122 broad.mit.edu 37 3 168834168 168834168 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:168834168C>T uc003ffi.3 - 7 1197 c.928G>A c.(928-930)GGC>AGC p.G310S MECOM_uc010hwk.1_Missense_Mutation_p.G333S|MECOM_uc003ffj.3_Missense_Mutation_p.G375S|MECOM_uc011bpi.1_Missense_Mutation_p.G311S|MECOM_uc003ffn.3_Missense_Mutation_p.G310S|MECOM_uc003ffk.2_Missense_Mutation_p.G310S|MECOM_uc003ffl.2_Missense_Mutation_p.G470S|MECOM_uc011bpj.1_Missense_Mutation_p.G498S|MECOM_uc011bpk.1_Missense_Mutation_p.G300S|MECOM_uc010hwn.2_Missense_Mutation_p.G498S NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 310 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TGGTACAAGCCGGAAGGAAAC 0.473 PIK3CA 5290 broad.mit.edu 37 3 178928108 178928127 + Splice_Site DEL TGGATCAAATCCAAATAAAG - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG uc003fjk.2 + 8 1561 c.1404_splice c.e8+1 p.K468_splice NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 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 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) TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT 0.332 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) HRG 3273 broad.mit.edu 37 3 186394875 186394875 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:186394875C>A uc003fqq.2 + 7 804 c.781C>A c.(781-783)CAT>AAT p.H261N NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 261 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) TCATTTGGGACATCCCTTCCA 0.468 TNK2 10188 broad.mit.edu 37 3 195611779 195611779 + Silent SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr3:195611779G>C uc003fvu.1 - 4 903 c.360C>G c.(358-360)CTC>CTG p.L120L TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 120 positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCTCCCCAATGAGGCAGGTGA 0.672 FGFR3 2261 broad.mit.edu 37 4 1807639 1807639 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:1807639G>A uc003gdr.3 + 13 2064 c.1808G>A c.(1807-1809)CGG>CAG p.R603Q FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 603 Protein kinase.|Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CAGGTGGCCCGGGGCATGGAG 0.612 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome WHSC2 7469 broad.mit.edu 37 4 1986590 1986590 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:1986590G>A uc003gem.2 - 8 1254 c.1014C>T c.(1012-1014)TCC>TCT p.S338S WHSC2_uc003gek.2_Silent_p.S64S|WHSC2_uc003gel.2_Silent_p.S252S|WHSC2_uc003gen.2_Silent_p.S192S NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 327 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) CGCTGGGCGTGGAGGGAAGGT 0.617 CC2D2A 57545 broad.mit.edu 37 4 15589458 15589458 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:15589458C>T uc010idv.2 + 33 4330 c.4085C>T c.(4084-4086)GCA>GTA p.A1362V CC2D2A_uc003gnx.2_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1362 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 GATCTCCTGGCAGGGGATGAA 0.383 SLIT2 9353 broad.mit.edu 37 4 20598280 20598280 + Splice_Site SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:20598280T>A uc003gpr.1 + 32 3765 c.3561_splice c.e32+2 p.Q1187_splice SLIT2_uc003gps.1_Splice_Site_p.Q1179_splice NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ACACTTCAGGTAAGAGATCTC 0.358 EPHA5 2044 broad.mit.edu 37 4 66361196 66361196 + Missense_Mutation SNP T A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:66361196T>A uc003hcy.2 - 4 1169 c.976A>T c.(976-978)AGT>TGT p.S326C EPHA5_uc003hcx.2_Missense_Mutation_p.S257C|EPHA5_uc003hcz.2_Missense_Mutation_p.S326C|EPHA5_uc011cah.1_Missense_Mutation_p.S326C|EPHA5_uc011cai.1_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 326 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGGGTATAACTGTGAGGTGGA 0.463 TSP Lung(17;0.13) FGB 2244 broad.mit.edu 37 4 155490852 155490852 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:155490852C>T uc003ioa.3 + 7 1184 c.1145C>T c.(1144-1146)GCC>GTC p.A382V FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.A320V|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.A163V NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 382 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GCCGGTAATGCCCTCATGGAT 0.473 PALLD 23022 broad.mit.edu 37 4 169824985 169824985 + Silent SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr4:169824985C>A uc011cjx.1 + 15 2761 c.2550C>A c.(2548-2550)ACC>ACA p.T850T CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.T833T|PALLD_uc003irv.2_Silent_p.T451T|PALLD_uc003irw.2_Silent_p.T335T|PALLD_uc003irx.2_Silent_p.T59T NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 1057 Ig-like C2-type 3. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TCGATGGGACCTGCTCCCTCC 0.438 Pancreatic_Cancer_Familial_Clustering_of ADAMTS16 170690 broad.mit.edu 37 5 5200249 5200249 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:5200249G>T uc003jdl.2 + 9 1456 c.1318G>T c.(1318-1320)GGC>TGC p.G440C ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 440 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 tcATAGCTTTGGCATGATTCA 0.388 CDH18 1016 broad.mit.edu 37 5 19503108 19503108 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:19503108G>C uc003jgc.2 - 10 2000 c.1623C>G c.(1621-1623)GAC>GAG p.D541E CDH18_uc003jgd.2_Missense_Mutation_p.D541E|CDH18_uc011cnm.1_Missense_Mutation_p.D541E NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 541 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CACCTTCATTGTCCTTCAGAG 0.353 PRDM9 56979 broad.mit.edu 37 5 23522791 23522791 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:23522791G>T uc003jgo.2 + 8 861 c.679G>T c.(679-681)GAC>TAC p.D227Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 227 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 ATTTGTAAAGGACAGTGCAGT 0.552 HNSCC(3;0.000094) NIPBL 25836 broad.mit.edu 37 5 37064646 37064646 + Silent SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:37064646A>G uc003jkl.3 + 47 8566 c.8067A>G c.(8065-8067)AAA>AAG p.K2689K NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2689 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GAAGGTCAAAACGAAATTCAG 0.378 C9 735 broad.mit.edu 37 5 39288825 39288825 + Nonsense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:39288825C>A uc003jlv.3 - 10 1734 c.1645G>T c.(1645-1647)GGA>TGA p.G549* NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 549 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTGTCCTCACCTTCAGAAATT 0.333 C5orf35 133383 broad.mit.edu 37 5 56207282 56207282 + Missense_Mutation SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:56207282A>G uc003jqx.2 + 2 758 c.385A>G c.(385-387)AGC>GGC p.S129G C5orf35_uc003jqy.2_Intron NM_153706 NP_714917 Q8NE22 CE035_HUMAN hypothetical protein LOC133383 129 ovary(1) 1 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173) OV - Ovarian serous cystadenocarcinoma(10;2.58e-39) CCAAGCAACTAGCTCATTGAT 0.403 MTX3 345778 broad.mit.edu 37 5 79279592 79279592 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:79279592G>A uc010jag.2 - 9 881 c.854C>T c.(853-855)CCT>CTT p.P285L MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.P224L NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 285 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) AGGAAGCTGAGGGCTTTGGCG 0.463 SLC23A1 9963 broad.mit.edu 37 5 138716553 138716553 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:138716553C>A uc003leh.2 - 4 428 c.331G>T c.(331-333)GCC>TCC p.A111S SLC23A1_uc003leg.2_Missense_Mutation_p.A111S NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 111 Helical; (Potential). brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) AATGCAAAGGCACTGGCCTGG 0.602 KIF4B 285643 broad.mit.edu 37 5 154396908 154396908 + Silent SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr5:154396908C>A uc010jih.1 + 1 3649 c.3489C>A c.(3487-3489)ACC>ACA p.T1163T NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1163 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCTGTGCCACCCCCAATAGCA 0.532 C6orf146 222826 broad.mit.edu 37 6 4068936 4068938 + In_Frame_Del DEL TTG - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:4068936_4068938delTTG uc003mvx.2 - 7 1859_1861 c.1519_1521delCAA c.(1519-1521)CAAdel p.Q507del C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_In_Frame_Del_p.Q444del NM_173563 NP_775834 Q8IXS0 CF146_HUMAN hypothetical protein LOC222826 507 ovary(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) AGAGTTATTTTTGTTCAATGGGT 0.360 CFB 629 broad.mit.edu 37 6 31915244 31915244 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:31915244C>T uc003nyj.3 + 4 882 c.604C>T c.(604-606)CGG>TGG p.R202W CFB_uc011dor.1_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 202 Sushi 3. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 TGGCTCCCAGCGGCGAACGTG 0.632 TAP2 6891 broad.mit.edu 37 6 32806007 32806007 + Missense_Mutation SNP G A A rs61736918 TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:32806007G>A uc003occ.2 - 1 35 c.4C>T c.(4-6)CGG>TGG p.R2W TAP2_uc011dqf.1_Missense_Mutation_p.R2W|TAP2_uc003ocb.1_Missense_Mutation_p.R2W|TAP2_uc003ocd.2_Missense_Mutation_p.R2W NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 2 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 TCAGGGAGCCGCATGGCTCTG 0.622 LEMD2 221496 broad.mit.edu 37 6 33740529 33740529 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:33740529C>A uc011drm.1 - 9 1401 c.1388G>T c.(1387-1389)CGA>CTA p.R463L LEMD2_uc010jvg.2_Missense_Mutation_p.R172L|LEMD2_uc011drl.1_Missense_Mutation_p.R161L|LEMD2_uc003ofe.2_Missense_Mutation_p.R161L NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN LEM domain containing 2 isoform 1 463 integral to nuclear inner membrane central_nervous_system(1) 1 CTCCACAGCTCGGTCCCAGAC 0.627 PGK2 5232 broad.mit.edu 37 6 49754282 49754282 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:49754282G>T uc003ozu.2 - 1 726 c.619C>A c.(619-621)CCC>ACC p.P207T NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 207 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) GCCAGAAAGGGTCTCACTGGG 0.428 GOPC 57120 broad.mit.edu 37 6 117892118 117892118 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:117892118C>A uc003pxu.2 - 6 1047 c.817G>T c.(817-819)GAT>TAT p.D273Y GOPC_uc003pxq.1_Missense_Mutation_p.D46Y|GOPC_uc003pxv.2_Missense_Mutation_p.D265Y NM_020399 NP_065132 Q9HD26 GOPC_HUMAN golgi associated PDZ and coiled-coil motif 273 apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle cystic fibrosis transmembrane conductance regulator binding ovary(1) 1 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) GAATCTTGATCCTTATTGGGA 0.328 O ROS1 glioblastoma UTRN 7402 broad.mit.edu 37 6 145103130 145103130 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:145103130T>C uc003qkt.2 + 60 8797 c.8705T>C c.(8704-8706)CTC>CCC p.L2902P NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2902 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GACCAGCTCCTCAGTGTTCCA 0.403 ESR1 2099 broad.mit.edu 37 6 152163775 152163775 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:152163775G>T uc003qom.3 + 4 866 c.496G>T c.(496-498)GCC>TCC p.A166S ESR1_uc010kin.2_Missense_Mutation_p.A166S|ESR1_uc010kio.2_Missense_Mutation_p.A166S|ESR1_uc010kip.2_Missense_Mutation_p.A166S|ESR1_uc003qon.3_Missense_Mutation_p.A166S|ESR1_uc003qoo.3_Missense_Mutation_p.A166S|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_5'UTR|ESR1_uc011eew.1_5'UTR NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 166 Modulating; mediates interaction with MACROD1. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) AGAAAGATTGGCCAGTACCAA 0.453 TIAM2 26230 broad.mit.edu 37 6 155451173 155451173 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:155451173G>T uc003qqb.2 + 6 2089 c.816G>T c.(814-816)ATG>ATT p.M272I TIAM2_uc003qqe.2_Missense_Mutation_p.M272I NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 272 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCCCCGGCATGCCTGACCCCA 0.597 IGF2R 3482 broad.mit.edu 37 6 160445736 160445736 + Missense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr6:160445736G>T uc003qta.2 + 5 794 c.646G>T c.(646-648)GAC>TAC p.D216Y NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 216 2.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TAGAGACATAGGTATGAATCT 0.438 KIAA0415 9907 broad.mit.edu 37 7 4830771 4830771 + Missense_Mutation SNP A G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:4830771A>G uc003sne.2 + 17 2262 c.2179A>G c.(2179-2181)AGG>GGG p.R727G KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.R204G NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 727 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) GTCAAAGATGAGGACCCTGGC 0.637 STARD3NL 83930 broad.mit.edu 37 7 38254036 38254039 + Splice_Site DEL GTAA - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:38254036_38254039delGTAA uc003tfr.2 + 3 451 c.303_splice c.e3+1 p.F101_splice STARD3NL_uc003tfs.2_Splice_Site_p.F101_splice|STARD3NL_uc003tft.2_Splice_Site_p.F101_splice NM_032016 NP_114405 O95772 MENTO_HUMAN MLN64 N-terminal homolog integral to membrane|late endosome membrane ovary(1) 1 TGATATATTTGTAAGTATTTTTTA 0.338 AMPH 273 broad.mit.edu 37 7 38516553 38516553 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:38516553C>T uc003tgu.2 - 6 482 c.413G>A c.(412-414)CGC>CAC p.R138H AMPH_uc003tgv.2_Missense_Mutation_p.R138H NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 138 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CTTCCTGCTGCGCTTGGCGAT 0.502 C7orf25 79020 broad.mit.edu 37 7 42949845 42949845 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:42949845G>C uc003thw.2 - 2 1119 c.655C>G c.(655-657)CTT>GTT p.L219V C7orf25_uc010kxq.2_Missense_Mutation_p.L219V|C7orf25_uc003thx.3_Missense_Mutation_p.L277V|C7orf25_uc010kxr.2_Missense_Mutation_p.L277V NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 219 skin(1) 1 ACCTGCAAAAGTTCAGGGCCC 0.438 ADCY1 107 broad.mit.edu 37 7 45632382 45632382 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:45632382G>A uc003tne.3 + 2 682 c.664G>A c.(664-666)GTC>ATC p.V222I ADCY1_uc003tnd.2_5'UTR NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 222 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTTGCTCTTCGTCGGTGTGAA 0.592 TNS3 64759 broad.mit.edu 37 7 47408183 47408183 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:47408183G>A uc003tnv.2 - 17 2427 c.2060C>T c.(2059-2061)TCC>TTC p.S687F TNS3_uc003tnw.2_Missense_Mutation_p.S687F NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 687 focal adhesion protein binding ovary(4) 4 CGAGCCTGGGGAGGGGCCTGT 0.622 POM121L12 285877 broad.mit.edu 37 7 53103674 53103674 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:53103674G>C uc003tpz.2 + 1 326 c.310G>C c.(310-312)GGG>CGG p.G104R NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 104 0 TGCCCTTCCCGGGGAGACCGC 0.721 EGFR 1956 broad.mit.edu 37 7 55249121 55249121 + Missense_Mutation SNP G C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:55249121G>C uc003tqk.2 + 20 2665 c.2419G>C c.(2419-2421)GAC>CAC p.D807H EGFR_uc010kzg.1_Missense_Mutation_p.D762H|EGFR_uc011kco.1_Missense_Mutation_p.D754H|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 807 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.D807N(2) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGAACACAAAGACAATATTGG 0.582 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) LAT2 7462 broad.mit.edu 37 7 73630358 73630358 + Missense_Mutation SNP T G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:73630358T>G uc003uag.2 + 3 603 c.53T>G c.(52-54)TTG>TGG p.L18W RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.L18W|LAT2_uc003uai.2_Missense_Mutation_p.L18W|LAT2_uc010lbo.2_RNA NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN linker for activation of T cells family member 18 Helical; Signal-anchor for type III membrane protein; (Potential). B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding 0 CTGGTGCTGTTGGGGGTGGCA 0.637 RSBN1L 222194 broad.mit.edu 37 7 77402516 77402516 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:77402516C>T uc010ldt.1 + 6 1722 c.1678C>T c.(1678-1680)CGT>TGT p.R560C RSBN1L_uc003ugm.2_Missense_Mutation_p.R342C NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 560 nucleus ovary(1) 1 AAGTGAGCCCCGTGAGATGCT 0.383 AKAP9 10142 broad.mit.edu 37 7 91668077 91668078 + Frame_Shift_Ins INS - GA GA TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:91668077_91668078insGA uc003ulg.2 + 17 4908_4909 c.4683_4684insGA c.(4681-4686)GTTAGAfs p.V1561fs AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.2_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.2_Frame_Shift_Ins_p.V1186fs NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1573_1574 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CATTTATAGTTAGACAGTCTGT 0.287 T BRAF papillary thyroid ZAN 7455 broad.mit.edu 37 7 100350019 100350019 + Frame_Shift_Del DEL A - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:100350019delA uc003uwj.2 + 14 2456 c.2291delA c.(2290-2292)GAAfs p.E764fs ZAN_uc003uwk.2_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 764 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCCCACAGAAAAACCCACC 0.527 MUC17 140453 broad.mit.edu 37 7 100674925 100674925 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:100674925C>T uc003uxp.1 + 3 281 c.228C>T c.(226-228)GTC>GTT p.V76V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 76 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTACAAATGTCGTGGAGCCAA 0.453 PPP1R3A 5506 broad.mit.edu 37 7 113558410 113558410 + Silent SNP A C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:113558410A>C uc010ljy.1 - 1 673 c.642T>G c.(640-642)TCT>TCG p.S214S NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 214 CBM21. glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ATGTACCAACAGAAGTTTCAT 0.353 CALD1 800 broad.mit.edu 37 7 134552504 134552504 + Missense_Mutation SNP G A A rs142583902 TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:134552504G>A uc003vrz.2 + 3 479 c.20G>A c.(19-21)CGC>CAC p.R7H CALD1_uc003vry.2_Missense_Mutation_p.R7H|CALD1_uc003vsa.2_Missense_Mutation_p.R7H|CALD1_uc003vsb.2_Missense_Mutation_p.R7H|CALD1_uc010lmm.2_Missense_Mutation_p.R7H|CALD1_uc011kpt.1_5'UTR NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 7 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 TTTGAGCGTCGCAGAGAACTT 0.433 NUP205 23165 broad.mit.edu 37 7 135311087 135311087 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:135311087C>T uc003vsw.2 + 33 4802 c.4771C>T c.(4771-4773)CGC>TGC p.R1591C NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1591 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CTATGACATGCGCCCAGAAAC 0.423 FAM115A 9747 broad.mit.edu 37 7 143573699 143573699 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr7:143573699C>A uc003wdo.1 - 2 136 c.3G>T c.(1-3)ATG>ATT p.M1I FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.M1I NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 1 0 Melanoma(164;0.0903) AGGGAGTCGCCATGGCTCTAT 0.473 ANK1 286 broad.mit.edu 37 8 41530099 41530099 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr8:41530099G>A uc003xok.2 - 38 4953 c.4869C>T c.(4867-4869)GAC>GAT p.D1623D NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.D1623D|ANK1_uc003xoj.2_Silent_p.D1623D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.D1664D NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1623 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCACTGTGTCGTCCTCCACAA 0.562 TRHR 7201 broad.mit.edu 37 8 110131345 110131345 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr8:110131345G>A uc003ymz.3 + 2 874 c.858G>A c.(856-858)GTG>GTA p.V286V NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 286 Helical; Name=6; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GGACTCTAGTGGTTGTCAACT 0.418 TRPS1 7227 broad.mit.edu 37 8 116599737 116599737 + Frame_Shift_Del DEL C - - TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr8:116599737delC uc003ynz.2 - 4 2611 c.2152delG c.(2152-2154)GAAfs p.E718fs TRPS1_uc011lhy.1_Frame_Shift_Del_p.E722fs|TRPS1_uc003yny.2_Frame_Shift_Del_p.E731fs|TRPS1_uc010mcy.2_Frame_Shift_Del_p.E718fs NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 718 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATGTCCTGTTCCTGGCAGTGA 0.507 Langer-Giedion_syndrome TRPS1 7227 broad.mit.edu 37 8 116632180 116632180 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr8:116632180C>T uc003ynz.2 - 2 565 c.106G>A c.(106-108)GAA>AAA p.E36K TRPS1_uc011lhy.1_Missense_Mutation_p.E40K|TRPS1_uc003yny.2_Missense_Mutation_p.E49K|TRPS1_uc010mcy.2_Missense_Mutation_p.E36K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 36 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCAGAAAATTCTTTGTTCTTT 0.448 Langer-Giedion_syndrome COMMD5 28991 broad.mit.edu 37 8 146076337 146076337 + Silent SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr8:146076337C>T uc003zem.2 - 2 518 c.387G>A c.(385-387)GTG>GTA p.V129V COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Silent_p.V129V|COMMD5_uc003zeo.3_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V NM_001081004 NP_001074473 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 129 nucleus protein binding ovary(1) 1 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) TCCCAAATACCACGCTGGCCA 0.652 PIGO 84720 broad.mit.edu 37 9 35095288 35095288 + Missense_Mutation SNP C A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr9:35095288C>A uc003zwd.2 - 2 671 c.275G>T c.(274-276)AGA>ATA p.R92I PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwe.2_Missense_Mutation_p.R92I|PIGO_uc003zwf.2_Missense_Mutation_p.R92I|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 92 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGAGGCTCTCTAGGCACGTG 0.582 Unknown 0 broad.mit.edu 37 9 38586290 38586290 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr9:38586290T>C uc004abf.1 - 4 1201 c.1168A>G c.(1168-1170)ATG>GTG p.M390V uc004abg.3_Missense_Mutation_p.M713V RecName: Full=Ankyrin repeat domain-containing protein 18B; TTTATTGTCATTTCTAGGCAT 0.279 OR2K2 26248 broad.mit.edu 37 9 114090010 114090010 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr9:114090010T>C uc011lwp.1 - 1 704 c.704A>G c.(703-705)AAG>AGG p.K235R NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 264 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGAAAAAGCCTTGTTTCTTCC 0.423 STXBP1 6812 broad.mit.edu 37 9 130422360 130422360 + Missense_Mutation SNP C T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chr9:130422360C>T uc004brl.2 + 5 495 c.298C>T c.(298-300)CGG>TGG p.R100W STXBP1_uc004brk.2_Missense_Mutation_p.R100W NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 100 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 TGCTAAATACCGGGCTGCACA 0.527 NLGN4X 57502 broad.mit.edu 37 X 5811228 5811228 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:5811228G>A uc010ndh.2 - 6 2582 c.2081C>T c.(2080-2082)GCG>GTG p.A694V NLGN4X_uc004crp.2_Missense_Mutation_p.A714V|NLGN4X_uc004crq.2_Missense_Mutation_p.A694V|NLGN4X_uc010ndi.2_Missense_Mutation_p.A731V|NLGN4X_uc004crr.2_Missense_Mutation_p.A694V|NLGN4X_uc010ndj.2_Missense_Mutation_p.A694V NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 694 Helical; (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 GTACAGCGCCGCAAAAGCTAA 0.502 VCX3B 425054 broad.mit.edu 37 X 8433516 8433516 + Nonsense_Mutation SNP G T T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:8433516G>T uc010ndo.2 + 2 332 c.25G>T c.(25-27)GGA>TGA p.G9* VCX3B_uc011mht.1_Nonsense_Mutation_p.G9*|VCX3B_uc004csd.1_Nonsense_Mutation_p.G9* NM_001001888 NP_001001888 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 9 nucleolus 0 GAGAGCCTCGGGACCTCCGGC 0.607 DMD 1756 broad.mit.edu 37 X 32503062 32503062 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:32503062T>C uc004dda.1 - 21 3021 c.2777A>G c.(2776-2778)CAG>CGG p.Q926R DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 926 Spectrin 5. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCTCTGGCCTGCACATCAGA 0.408 CXorf22 170063 broad.mit.edu 37 X 36007487 36007487 + Missense_Mutation SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:36007487G>A uc004ddj.2 + 16 2824 c.2765G>A c.(2764-2766)GGC>GAC p.G922D CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 922 large_intestine(1)|lung(1)|ovary(1) 3 TGGCAGCAGGGCTTCAGTTCT 0.368 ZC4H2 55906 broad.mit.edu 37 X 64140054 64140054 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:64140054T>C uc004dvu.2 - 3 393 c.305A>G c.(304-306)AAG>AGG p.K102R ZC4H2_uc004dvv.2_Missense_Mutation_p.K79R|ZC4H2_uc011mov.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.1_Missense_Mutation_p.K102R|ZC4H2_uc004dvw.1_Missense_Mutation_p.K102R NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 102 Potential. metal ion binding|protein binding ovary(1) 1 TTTCAGTGGCTTATACTCATC 0.473 EDA 1896 broad.mit.edu 37 X 69250324 69250324 + Silent SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:69250324T>C uc004dxs.2 + 6 989 c.747T>C c.(745-747)GCT>GCC p.A249A EDA_uc004dxr.2_Silent_p.A249A|EDA_uc011mpj.1_Silent_p.A249A NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 249 Extracellular (Potential). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 GCCAGCCAGCTGTGGTGCATC 0.502 OREG0019846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CDX4 1046 broad.mit.edu 37 X 72674301 72674301 + Silent SNP G A A TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:72674301G>A uc011mqk.1 + 3 735 c.735G>A c.(733-735)TCG>TCA p.S245S NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) GTGGAGGCTCGGTGCAAAGTG 0.448 RLIM 51132 broad.mit.edu 37 X 73811531 73811531 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:73811531T>C uc004ebu.2 - 5 1909 c.1619A>G c.(1618-1620)GAT>GGT p.D540G RLIM_uc004ebw.2_Missense_Mutation_p.D540G NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 540 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GTCATCATCATCCTCATTTAA 0.458 CYLC1 1538 broad.mit.edu 37 X 83128534 83128534 + Nonsense_Mutation SNP C G G TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:83128534C>G uc004eei.1 + 4 839 c.818C>G c.(817-819)TCA>TGA p.S273* CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272* NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 273 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 CAGAATAATTCAAAGAATTAT 0.318 RPS6KA6 27330 broad.mit.edu 37 X 83361995 83361995 + Missense_Mutation SNP T C C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 081e73fe-86ff-4337-be06-3b5cb9759945 287a5160-5729-4ad5-980f-d50fb4769b22 g.chrX:83361995T>C uc004eej.1 - 14 1242 c.1165A>G c.(1165-1167)AGC>GGC p.S389G RPS6KA6_uc011mqt.1_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.1_Missense_Mutation_p.S286G NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 389 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 GCAACAAAGCTGAATCCTTTG 0.343