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 NPHP4 261734 broad.mit.edu 37 1 5969224 5969224 + Silent SNP A T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:5969224A>T uc001alq.1 - 12 1757 c.1491T>A c.(1489-1491)CCT>CCA p.P497P NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 497 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CTGGTCCCACAGGTGAGTTCT 0.597 TNFRSF1B 7133 broad.mit.edu 37 1 12253032 12253032 + Missense_Mutation SNP A C C TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:12253032A>C uc001att.2 + 6 753 c.664A>C c.(664-666)ACA>CCA p.T222P TNFRSF1B_uc001atu.2_Missense_Mutation_p.T27P|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 222 Extracellular (Potential). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity p.T222P(1) liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GCCAGTGTCCACACGATCCCA 0.637 THRAP3 9967 broad.mit.edu 37 1 36752347 36752347 + Silent SNP T C C TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:36752347T>C uc001cae.3 + 4 740 c.516T>C c.(514-516)TCT>TCC p.S172S THRAP3_uc001caf.3_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 172 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTGAATCTTCTAAGCGCAAGT 0.527 T USP6 aneurysmal bone cysts C8A 731 broad.mit.edu 37 1 57383364 57383364 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:57383364G>A uc001cyo.2 + 11 1862 c.1730G>A c.(1729-1731)CGG>CAG p.R577Q NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 577 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TGTCCAGGGCGGAAAGTACAG 0.557 LPAR3 23566 broad.mit.edu 37 1 85331129 85331142 + Frame_Shift_Del DEL ACTTGTATGCGGAG - - rs140283678 TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:85331129_85331142delACTTGTATGCGGAG uc001dkl.2 - 1 701_714 c.662_675delCTCCGCATACAAGT c.(661-675)TCTCCGCATACAAGTfs p.S221fs LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 221_225 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 TGATGGACCCACTTGTATGCGGAGACAAGACGTT 0.500 SYDE2 84144 broad.mit.edu 37 1 85648703 85648703 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:85648703C>T uc009wcm.2 - 3 1671 c.1622G>A c.(1621-1623)CGA>CAA p.R541Q SYDE2_uc001dku.3_Missense_Mutation_p.R541Q NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 541 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) GCTTAGCTTTCGGCTAAATTC 0.338 KCNA10 3744 broad.mit.edu 37 1 111060591 111060591 + Missense_Mutation SNP C A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:111060591C>A uc001dzt.1 - 1 1207 c.819G>T c.(817-819)ATG>ATT p.M273I NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 273 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TAGACTCCACCATGAAGAAAG 0.532 FLG2 388698 broad.mit.edu 37 1 152326339 152326339 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:152326339C>T uc001ezw.3 - 3 3996 c.3923G>A c.(3922-3924)CGC>CAC p.R1308H uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1308 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCTTCTGCGAACTGTGGA 0.473 ETV3L 440695 broad.mit.edu 37 1 157068567 157068567 + Silent SNP G T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:157068567G>T uc001fqq.1 - 3 702 c.417C>A c.(415-417)TCC>TCA p.S139S NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) GCAAGTGGGGGGATGGCGGCG 0.602 PVRL4 81607 broad.mit.edu 37 1 161043074 161043074 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:161043074C>T uc001fxo.2 - 8 1548 c.1249G>A c.(1249-1251)GGG>AGG p.G417R PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 417 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCTCTCAGCCCTACACTCTCC 0.652 RGS1 5996 broad.mit.edu 37 1 192547487 192547487 + Missense_Mutation SNP C G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr1:192547487C>G uc001gsi.1 + 4 482 c.416C>G c.(415-417)GCA>GGA p.A139G RGS1_uc010pou.1_Missense_Mutation_p.A139G NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 139 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) ATATATAAAGCATTTGTGCAT 0.343 THNSL1 79896 broad.mit.edu 37 10 25313145 25313145 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr10:25313145G>A uc001isi.3 + 3 1322 c.993G>A c.(991-993)AGG>AGA p.R331R ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 331 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) CTCCTGTCAGGCACCTTTCAG 0.433 CNNM2 54805 broad.mit.edu 37 10 104836896 104836896 + Missense_Mutation SNP A T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr10:104836896A>T uc001kwm.2 + 8 2711 c.2587A>T c.(2587-2589)AGT>TGT p.S863C CNNM2_uc001kwn.2_Missense_Mutation_p.S841C NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 863 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGTGACGCACAGTAAGGCCAA 0.617 SMC3 9126 broad.mit.edu 37 10 112350834 112350834 + Missense_Mutation SNP A G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr10:112350834A>G uc001kze.2 + 17 1882 c.1756A>G c.(1756-1758)ACT>GCT p.T586A NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 586 Flexible hinge. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGGAGAGGTTACTTTTCTGCC 0.328 RAG2 5897 broad.mit.edu 37 11 36614899 36614899 + Missense_Mutation SNP C A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr11:36614899C>A uc001mwv.3 - 2 1008 c.820G>T c.(820-822)GTT>TTT p.V274F C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 274 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TAGCCACCAACAATAACAAAT 0.428 Familial_Hemophagocytic_Lymphohistiocytosis PPME1 51400 broad.mit.edu 37 11 73964552 73964552 + Silent SNP T C C TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr11:73964552T>C uc001ouw.2 + 14 1257 c.1158T>C c.(1156-1158)TGT>TGC p.C386C PPME1_uc009yty.2_Silent_p.C270C|PPME1_uc001oux.2_Silent_p.C199C|P4HA3_uc001ouy.3_Intron NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 386 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) TTCCTGGCTGTTAGTGACCTG 0.498 HMBS 3145 broad.mit.edu 37 11 118962836 118962836 + Missense_Mutation SNP T G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr11:118962836T>G uc001puz.1 + 10 771 c.614T>G c.(613-615)ATC>AGC p.I205S HMBS_uc009zao.1_Missense_Mutation_p.I150S|HMBS_uc001pvc.1_Missense_Mutation_p.I150S|HMBS_uc009zap.1_Missense_Mutation_p.I188S|HMBS_uc001pva.1_Missense_Mutation_p.I205S|HMBS_uc001pvb.1_Intron|HMBS_uc001pvd.1_Missense_Mutation_p.I188S|HMBS_uc001pve.1_Missense_Mutation_p.I188S|HMBS_uc001pvf.1_Missense_Mutation_p.I188S NM_000190 NP_000181 P08397 HEM3_HUMAN hydroxymethylbilane synthase isoform 1 205 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CCTCCACAGATCCTGCACCCT 0.537 Porphyria_Acute_Intermittent ANO2 57101 broad.mit.edu 37 12 5963280 5963280 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr12:5963280G>A uc001qnm.2 - 4 622 c.550C>T c.(550-552)CGG>TGG p.R184W NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 188 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 GCGTGTATCCGGACAAAGATG 0.458 LUM 4060 broad.mit.edu 37 12 91497971 91497971 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr12:91497971G>A uc001tbm.2 - 3 1377 c.988C>T c.(988-990)CGT>TGT p.R330C LUM_uc001tbn.2_RNA NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 330 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 TTAGCAACACGTAGACATTCA 0.383 DAO 1610 broad.mit.edu 37 12 109288048 109288048 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr12:109288048G>A uc001tnr.3 + 7 670 c.517G>A c.(517-519)GAA>AAA p.E173K DAO_uc001tnq.3_Missense_Mutation_p.E107K|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 173 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 GGTGGCAAGAGAAGGCGCAGA 0.582 PCDH9 5101 broad.mit.edu 37 13 67800099 67800099 + Missense_Mutation SNP A T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr13:67800099A>T uc001vik.2 - 2 3166 c.2474T>A c.(2473-2475)GTG>GAG p.V825E PCDH9_uc001vil.2_Missense_Mutation_p.V825E|PCDH9_uc010thl.1_Missense_Mutation_p.V825E|PCDH9_uc001vin.3_Missense_Mutation_p.V825E NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 825 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AACAATGACCACCATGGCACC 0.517 OR4N5 390437 broad.mit.edu 37 14 20612258 20612258 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr14:20612258C>T uc010tla.1 + 1 364 c.364C>T c.(364-366)CGC>TGC p.R122C NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GGCCTTTGACCGCTACATCGC 0.483 CDCA4 55038 broad.mit.edu 37 14 105477589 105477589 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr14:105477589G>A uc001yqa.2 - 2 774 c.678C>T c.(676-678)TCC>TCT p.S226S CDCA4_uc001yqb.2_Silent_p.S226S NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 226 nucleus ovary(1) 1 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) CGCCCAGGTCGGACTTGCAGC 0.672 RYR3 6263 broad.mit.edu 37 15 34130001 34130002 + Frame_Shift_Ins INS - A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr15:34130001_34130002insA uc001zhi.2 + 89 11890_11891 c.11820_11821insA c.(11818-11823)TCCAAAfs p.S3940fs RYR3_uc010bar.2_Frame_Shift_Ins_p.S3935fs NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3940_3941 EF-hand. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAATTATCTCCAAAAAAGAATT 0.391 EIF2AK4 440275 broad.mit.edu 37 15 40282488 40282488 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr15:40282488G>A uc001zkm.1 + 16 2591 c.2541G>A c.(2539-2541)CGG>CGA p.R847R EIF2AK4_uc010bbj.1_Silent_p.R548R|EIF2AK4_uc001zkn.1_5'Flank NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 847 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TGATTCACCGGGATTTGAAGC 0.378 NEDD4 4734 broad.mit.edu 37 15 56208834 56208834 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr15:56208834C>T uc002adj.2 - 1 496 c.196G>A c.(196-198)GTT>ATT p.V66I NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.V66I|NEDD4_uc010ugj.1_Missense_Mutation_p.V66I|NEDD4_uc010bfm.2_Missense_Mutation_p.V66I|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 66 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TGAGACTGAACGTTTTCCTTT 0.408 SCNN1G 6340 broad.mit.edu 37 16 23226531 23226531 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr16:23226531G>A uc002dlm.1 + 13 1830 c.1691G>A c.(1690-1692)CGC>CAC p.R564H NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 564 Cytoplasmic (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATTGCCCGCCGCCAGTGGCAG 0.587 CHD9 80205 broad.mit.edu 37 16 53289572 53289572 + Missense_Mutation SNP A G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr16:53289572A>G uc002ehb.2 + 18 4254 c.4090A>G c.(4090-4092)ATT>GTT p.I1364V CHD9_uc002egy.2_Missense_Mutation_p.I1364V|CHD9_uc002ehc.2_Missense_Mutation_p.I1364V|CHD9_uc002ehf.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1364 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TTATGGTGCTATTATGGAGGA 0.348 CDH16 1014 broad.mit.edu 37 16 66946751 66946751 + Silent SNP G T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr16:66946751G>T uc002eql.2 - 10 1171 c.1098C>A c.(1096-1098)CCC>CCA p.P366P CDH16_uc010cdy.2_Silent_p.P366P|CDH16_uc002eqm.2_Silent_p.P269P NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 366 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGGGGGAGCCGGGGGCATCTG 0.612 PLCG2 5336 broad.mit.edu 37 16 81968079 81968079 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr16:81968079G>A uc002fgt.2 + 26 2937 c.2785G>A c.(2785-2787)GAG>AAG p.E929K NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 929 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CATCGCCATCGAGCTCTCTGA 0.478 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C T T rs408579 by1000genomes TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr17:39274416C>T uc002hvz.2 - 1 191 c.152G>A c.(151-153)AGG>AAG p.R51K NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672 LOC90586 90586 broad.mit.edu 37 17 41019767 41019767 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr17:41019767C>T uc002ibw.1 + 1 606 c.472C>T c.(472-474)CGT>TGT p.R158C LOC90586_uc002ibx.2_5'Flank NR_002773 Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO1. 0 GACTGTGGAGCGTCATGGAGG 0.612 HEXIM2 124790 broad.mit.edu 37 17 43246862 43246862 + Nonsense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr17:43246862C>T uc002iih.1 + 4 786 c.547C>T c.(547-549)CGA>TGA p.R183* HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*|uc002iik.1_RNA NM_144608 NP_653209 Q96MH2 HEXI2_HUMAN hexamthylene bis-acetamide inducible 2 183 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding 0 TGGGCGGGGCCGAGCGCACGG 0.647 TEX2 55852 broad.mit.edu 37 17 62272375 62272375 + Missense_Mutation SNP C A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr17:62272375C>A uc002jec.2 - 3 1898 c.1725G>T c.(1723-1725)GAG>GAT p.E575D TEX2_uc002jed.2_Missense_Mutation_p.E575D|TEX2_uc002jee.2_Missense_Mutation_p.E575D NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 575 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AGGTTCCACCCTCAAGTCGAA 0.423 MUC16 94025 broad.mit.edu 37 19 9085127 9085127 + Missense_Mutation SNP A G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr19:9085127A>G uc002mkp.2 - 1 6892 c.6688T>C c.(6688-6690)TCC>CCC p.S2230P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2230 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTACTGTGGACAAGCCAGGT 0.488 OR7G2 390882 broad.mit.edu 37 19 9213088 9213088 + Missense_Mutation SNP A T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr19:9213088A>T uc010xkk.1 - 1 895 c.895T>A c.(895-897)TAT>AAT p.Y299N NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AACACAGAATACATCACTGAA 0.453 ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A - - TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr19:12430217delA uc002mtp.2 - 4 860 c.622delT c.(622-624)TGGfs p.W208fs ZNF563_uc002mtq.2_Intron NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAACTGGGCCAAAAAAAAGCT 0.393 PKN1 5585 broad.mit.edu 37 19 14574778 14574778 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr19:14574778C>T uc002myp.2 + 11 1802 c.1634C>T c.(1633-1635)ACG>ATG p.T545M PKN1_uc002myq.2_Missense_Mutation_p.T551M NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 545 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 GCCCGGACCACGGGGTAAGGA 0.672 TMEM59L 25789 broad.mit.edu 37 19 18731283 18731283 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr19:18731283G>A uc002njy.3 + 8 1053 c.966G>A c.(964-966)CCG>CCA p.P322P NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 322 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 ACCCGCCGCCGTCCCACGCCT 0.642 ZNF135 7694 broad.mit.edu 37 19 58579144 58579144 + Missense_Mutation SNP T G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr19:58579144T>G uc010yhq.1 + 5 1424 c.1328T>G c.(1327-1329)ATT>AGT p.I443S ZNF135_uc002qre.2_Missense_Mutation_p.I431S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.I389S|ZNF135_uc002qrg.2_Missense_Mutation_p.I401S|ZNF135_uc010yhr.1_Missense_Mutation_p.I252S NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 443 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CATCGGAGGATTCACACAGGA 0.547 SRD5A2 6716 broad.mit.edu 37 2 31756490 31756490 + Missense_Mutation SNP T C C TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr2:31756490T>C uc002rnw.1 - 4 569 c.498A>G c.(496-498)ATA>ATG p.I166M NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 166 Helical; (Potential). androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GCTGGCGCAATATATAGTCAC 0.433 TTN 7273 broad.mit.edu 37 2 179452825 179452825 + Missense_Mutation SNP C A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr2:179452825C>A uc010zfg.1 - 254 55829 c.55605G>T c.(55603-55605)ATG>ATT p.M18535I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M12230I|TTN_uc010zfi.1_Missense_Mutation_p.M12163I|TTN_uc010zfj.1_Missense_Mutation_p.M12038I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19462 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) TTTTTGGTCTCATTTCCACAA 0.453 ABCG1 9619 broad.mit.edu 37 21 43708133 43708133 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr21:43708133C>T uc002zaq.2 + 9 1214 c.1108C>T c.(1108-1110)CGG>TGG p.R370W ABCG1_uc002zan.2_Missense_Mutation_p.R372W|ABCG1_uc002zam.2_Missense_Mutation_p.R348W|ABCG1_uc002zao.2_Missense_Mutation_p.R367W|ABCG1_uc002zap.2_Missense_Mutation_p.R370W|ABCG1_uc002zar.2_Missense_Mutation_p.R381W|ABCG1_uc011aev.1_Missense_Mutation_p.R381W|ABCG1_uc010gpb.1_5'UTR NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 370 Cytoplasmic (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) TCTTTGGCACCGGCCCTCTGA 0.577 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr21:46011400G>A uc002zfm.2 - 1 987 c.966C>T c.(964-966)TCC>TCT p.S322S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament 0 AGGCACCACAGGAGGGGACGG 0.692 PI4KAP2 375133 broad.mit.edu 37 22 21829507 21829507 + Missense_Mutation SNP G A A rs140118179 by1000genomes TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr22:21829507G>A uc002zuv.3 - 14 3895 c.1636C>T c.(1636-1638)CTC>TTC p.L546F PI4KAP2_uc002zuw.2_Intron|PI4KAP2_uc011aid.1_Intron SubName: Full=Putative uncharacterized protein PI4KA; 0 TACTTCAAGAGCTTGATTGTC 0.542 SREBF2 6721 broad.mit.edu 37 22 42276831 42276831 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr22:42276831C>T uc003bbi.2 + 10 2042 c.1873C>T c.(1873-1875)CGC>TGC p.R625C WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 625 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 GAACGTGATCCGCTACAGCCT 0.647 CNTN4 152330 broad.mit.edu 37 3 3078881 3078881 + Missense_Mutation SNP G T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr3:3078881G>T uc003bpc.2 + 17 2182 c.1961G>T c.(1960-1962)GGG>GTG p.G654V CNTN4_uc003bpb.1_Missense_Mutation_p.G325V|CNTN4_uc003bpd.1_Missense_Mutation_p.G654V|CNTN4_uc003bpe.2_Missense_Mutation_p.G326V|CNTN4_uc003bpf.2_Missense_Mutation_p.G325V|CNTN4_uc003bpg.2_5'Flank NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 654 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTCATTGATGGGAAGACATTC 0.483 ABCC5 10057 broad.mit.edu 37 3 183665250 183665250 + Silent SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr3:183665250C>T uc003fmg.2 - 23 3441 c.3276G>A c.(3274-3276)ACG>ACA p.T1092T ABCC5_uc011bqt.1_Silent_p.T620T|ABCC5_uc010hxl.2_Silent_p.T1049T NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1092 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCATCGCACACGTAAACAAAA 0.532 ADRA2C 152 broad.mit.edu 37 4 3768581 3768581 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr4:3768581G>A uc003ghm.2 + 1 286 c.248G>A c.(247-249)CGC>CAC p.R83H ADRA2C_uc010icx.2_Missense_Mutation_p.R83H NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 83 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CGGGCGCTGCGCGCGCCACAG 0.677 UGT2B28 54490 broad.mit.edu 37 4 70148376 70148376 + Missense_Mutation SNP C A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr4:70148376C>A uc003hej.2 + 2 868 c.866C>A c.(865-867)CCT>CAT p.P289H UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 289 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) AAACCCCTACCTAAGGTAAAC 0.383 FGB 2244 broad.mit.edu 37 4 155490927 155490927 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr4:155490927C>T uc003ioa.3 + 7 1259 c.1220C>T c.(1219-1221)ACG>ATG p.T407M FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.T345M|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.T188M NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 407 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) TTCTTCAGCACGTATGACAGA 0.423 GRIA2 2891 broad.mit.edu 37 4 158234012 158234012 + Silent SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr4:158234012C>T uc003ipm.3 + 4 1110 c.651C>T c.(649-651)AAC>AAT p.N217N GRIA2_uc011cit.1_Silent_p.N170N|GRIA2_uc003ipl.3_Silent_p.N217N|GRIA2_uc003ipk.3_Silent_p.N170N|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 217 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N217N(1) central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATAAAGTAAACGACATTGTAG 0.373 RAPGEF2 9693 broad.mit.edu 37 4 160251077 160251077 + Missense_Mutation SNP T G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr4:160251077T>G uc003iqg.3 + 6 1044 c.734T>G c.(733-735)GTT>GGT p.V245G NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 245 cNMP. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ATGCAAAAAGTTGAAGAGGAA 0.398 SORBS2 8470 broad.mit.edu 37 4 186545050 186545050 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr4:186545050G>A uc003iyl.2 - 13 2379 c.1521C>T c.(1519-1521)CCC>CCT p.P507P SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.P607P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.P411P|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.P621P|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 507 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGATGCGTGTGGGCACCATGT 0.572 DNAH5 1767 broad.mit.edu 37 5 13916467 13916467 + Missense_Mutation SNP A G G TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr5:13916467A>G uc003jfd.2 - 9 1229 c.1187T>C c.(1186-1188)CTG>CCG p.L396P DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 396 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTTACAAACAGAGATGTGAT 0.323 Kartagener_syndrome HEATR7B2 133558 broad.mit.edu 37 5 41049516 41049516 + Missense_Mutation SNP G T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr5:41049516G>T uc003jmj.3 - 14 1857 c.1367C>A c.(1366-1368)ACT>AAT p.T456N HEATR7B2_uc003jmi.3_Missense_Mutation_p.T11N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 456 binding p.T456N(1) ovary(6)|central_nervous_system(2) 8 TACCACAAAAGTCAGGATCCT 0.458 OR2Y1 134083 broad.mit.edu 37 5 180166818 180166818 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr5:180166818G>A uc003mmf.1 - 1 241 c.241C>T c.(241-243)CTC>TTC p.L81F NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGATCAGGAGCTGGGGCACG 0.587 SNRNP48 154007 broad.mit.edu 37 6 7602909 7602909 + Missense_Mutation SNP G T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr6:7602909G>T uc003mxr.2 + 6 708 c.649G>T c.(649-651)GAT>TAT p.D217Y SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 217 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 AGAAGTACGAGATTATAAAAG 0.308 LGSN 51557 broad.mit.edu 37 6 63990671 63990671 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr6:63990671C>T uc003peh.2 - 4 819 c.785G>A c.(784-786)AGG>AAG p.R262K LGSN_uc003pei.2_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 262 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) CTGACCAGGCCTGGTAGAGGA 0.433 C6orf97 80129 broad.mit.edu 37 6 151914390 151914390 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr6:151914390C>T uc003qol.2 + 8 1531 c.1442C>T c.(1441-1443)ACC>ATC p.T481I NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 481 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GAGAACAAGACCATTGCCCAC 0.423 KLHL7 55975 broad.mit.edu 37 7 23163411 23163411 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr7:23163411G>A uc003svs.3 + 2 429 c.136G>A c.(136-138)GTG>ATG p.V46M KLHL7_uc003svr.3_Missense_Mutation_p.V24M|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Translation_Start_Site|KLHL7_uc003svp.2_Missense_Mutation_p.V24M|KLHL7_uc003svq.2_Missense_Mutation_p.V46M|KLHL7_uc011jyu.1_Missense_Mutation_p.V24M NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 46 BTB. Golgi apparatus|nucleolus|plasma membrane 0 GTTGTGTGACGTGATCCTCAT 0.373 MRPL32 64983 broad.mit.edu 37 7 42977165 42977165 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr7:42977165C>T uc003tia.2 + 3 604 c.557C>T c.(556-558)ACC>ATC p.T186I MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.T133I NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 186 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 TCCTGGTTCACCCAGAATTGA 0.418 WBSCR17 64409 broad.mit.edu 37 7 70886068 70886068 + Silent SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr7:70886068C>T uc003tvy.2 + 5 939 c.939C>T c.(937-939)GCC>GCT p.A313A WBSCR17_uc003tvz.2_Silent_p.A12A NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 313 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGTGGGACGCCGGAGACCCTT 0.597 GRM3 2913 broad.mit.edu 37 7 86468552 86468552 + Silent SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr7:86468552C>T uc003uid.2 + 4 2821 c.1722C>T c.(1720-1722)GAC>GAT p.D574D GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.D446D|GRM3_uc010leh.2_Silent_p.D166D NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 574 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGTGGGAAGACGCCTGGGCCA 0.498 COL1A2 1278 broad.mit.edu 37 7 94054953 94054953 + Missense_Mutation SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr7:94054953G>A uc003ung.1 + 43 3284 c.2813G>A c.(2812-2814)CGC>CAC p.R938H COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 938 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.R938H(1) COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCCCCAGGTCGCGATGGTCAA 0.488 HNSCC(75;0.22) FZD6 8323 broad.mit.edu 37 8 104342147 104342147 + Silent SNP G A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr8:104342147G>A uc003ylh.2 + 6 2090 c.1806G>A c.(1804-1806)GCG>GCA p.A602A FZD6_uc003ylj.2_Silent_p.A602A|FZD6_uc011lhn.1_Silent_p.A568A|FZD6_uc011lho.1_Silent_p.A297A|FZD6_uc011lhp.1_Silent_p.A547A NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 602 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) AGGTGAAAGCGGACGGAGCTA 0.512 C8orf76 84933 broad.mit.edu 37 8 124243741 124243743 + In_Frame_Del DEL AAG - - TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr8:124243741_124243743delAAG uc003yqc.1 - 4 643_645 c.612_614delCTT c.(610-615)TTCTTT>TTT p.204_205FF>F C8orf76_uc003yqd.2_In_Frame_Del_p.172_173FF>F NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 204_205 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGAGTGTGGAAAGAAGGATTTGA 0.433 EPPK1 83481 broad.mit.edu 37 8 144940328 144940328 + Missense_Mutation SNP C T T TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr8:144940328C>T uc003zaa.1 - 2 15117 c.15104G>A c.(15103-15105)CGC>CAC p.R5035H NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5035 Plectin 64. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAAGTAGCCGCGCCGGTAGGC 0.692 TEK 7010 broad.mit.edu 37 9 27158007 27158007 + Missense_Mutation SNP T A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr9:27158007T>A uc003zqi.3 + 2 673 c.231T>A c.(229-231)GAT>GAA p.D77E TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc011lno.1_Missense_Mutation_p.D77E|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 77 Extracellular (Potential).|Ig-like C2-type 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.D77E(1) ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTACTCAAGATGTGACCAGAG 0.493 TGFBR1 7046 broad.mit.edu 37 9 101908855 101908855 + Missense_Mutation SNP G A A rs146549837 TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr9:101908855G>A uc004azc.2 + 7 1295 c.1219G>A c.(1219-1221)GTA>ATA p.V407I TGFBR1_uc004azd.2_Missense_Mutation_p.V330I|TGFBR1_uc011lvc.1_Missense_Mutation_p.V338I NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 407 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) AATGGGCTTAGTATTCTGGGA 0.398 ORM2 5005 broad.mit.edu 37 9 117092750 117092750 + Silent SNP C A A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c3c3059d-e2fb-45ea-80b5-99fb040cba29 3f736ddc-4f66-45eb-98dc-0c8b68b790a0 g.chr9:117092750C>A uc004bil.2 + 2 267 c.151C>A c.(151-153)CGA>AGA p.R51R ORM1_uc011lxo.1_Intron NM_000608 NP_000599 P19652 A1AG2_HUMAN orosomucoid 2 precursor 51 acute-phase response|regulation of immune system process|transport extracellular space binding 0 Myeloproliferative disorder(63;0.163) ATCGGCCTTTCGAAACGAGGA 0.438