Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PLEKHN1 84069 broad.mit.edu 37 1 906212 906212 + Silent SNP G G T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:906212G>T uc001ace.2 + 5 593 c.558G>T c.(556-558)CTG>CTT p.L186L PLEKHN1_uc001acd.2_Intron|PLEKHN1_uc001acf.2_Intron NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 186 PH 1. 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCCTGTGGCTGCGGAGCACGT 0.692 NA 13 23 9.31e-06 1.04e-05 1 0 CHD5 26038 broad.mit.edu 37 1 6209356 6209356 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:6209356C>G uc001amb.1 - 8 1211 c.1111G>C c.(1111-1113)GAC>CAC p.D371H CHD5_uc001amc.1_5'Flank NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 371 PHD-type 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGCTCTGGGTCCAGGCATACG 0.657 NA 3 21 0 0 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724545 7724545 + Silent SNP G G C rs142993717 TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:7724545G>C uc001aoi.2 + 9 2145 c.1938G>C c.(1936-1938)ACG>ACC p.T646T NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGATGCCCACGGTGAAAACGG 0.637 NA 54 167 0 0 0 0 KIF1B 23095 broad.mit.edu 37 1 10318626 10318626 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:10318626G>C uc001aqx.3 + 4 461 c.259G>C c.(259-261)GAG>CAG p.E87Q KIF1B_uc001aqv.3_Missense_Mutation_p.E87Q|KIF1B_uc001aqw.3_Missense_Mutation_p.E87Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E87Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E87Q|KIF1B_uc001ara.2_Missense_Mutation_p.E87Q|KIF1B_uc001arb.2_Missense_Mutation_p.E87Q|KIF1B_uc009vmt.2_RNA NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 87 Kinesin-motor. E -> G (in Ref. 7; BAA25517). anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ACACGCCTTTGAGGGATATAA 0.418 NA 21 47 0 0 0 0 VPS13D 55187 broad.mit.edu 37 1 12443180 12443180 + Missense_Mutation SNP G G C rs140461198 TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:12443180G>C uc001atv.2 + 58 11477 c.11336G>C c.(11335-11337)AGA>ACA p.R3779T VPS13D_uc001atw.2_Missense_Mutation_p.R3754T|VPS13D_uc001atx.2_Missense_Mutation_p.R2966T|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3778 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTATCCATCAGAGTCATCCCA 0.433 NA 9 45 0 0 0 0 HTR6 3362 broad.mit.edu 37 1 19992252 19992252 + Silent SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:19992252C>A uc001bcl.2 + 1 473 c.6C>A c.(4-6)GTC>GTA p.V2V NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 2 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TCCTCATGGTCCCAGAGCCGG 0.468 NA 4 13 0.00024832 0.00026653 1 0 C1orf201 90529 broad.mit.edu 37 1 24706250 24706250 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:24706250C>G uc001bjc.2 - 5 490 c.355G>C c.(355-357)GAT>CAT p.D119H C1orf201_uc001bja.2_Missense_Mutation_p.D72H|C1orf201_uc001bjb.2_Missense_Mutation_p.D27H|C1orf201_uc001bjd.2_Missense_Mutation_p.D119H|C1orf201_uc001bje.1_Missense_Mutation_p.D72H|C1orf201_uc001bjf.2_5'UTR Q5TH74 CA201_HUMAN RecName: Full=UPF0490 protein C1orf201; 119 ovary(1)|breast(1) 2 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) GAAATAAAATCCGATGGGATA 0.428 NA 6 35 0 0 0 0 GRIK3 2899 broad.mit.edu 37 1 37291332 37291332 + Silent SNP G G T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:37291332G>T uc001caz.2 - 11 1761 c.1626C>A c.(1624-1626)ATC>ATA p.I542I GRIK3_uc001cba.1_Silent_p.I542I NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 542 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TTCGATACAGGATGCTCACAC 0.572 NA 22 34 1.28e-07 1.47e-07 1 0 MTF1 4520 broad.mit.edu 37 1 38280845 38280845 + Missense_Mutation SNP T T C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:38280845T>C uc001cce.1 - 11 2366 c.2225A>G c.(2224-2226)GAG>GGG p.E742G NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 742 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CATCTCCTCCTCCCCCTGCAG 0.547 NA 7 77 0 0 0 0 KIAA0494 9813 broad.mit.edu 37 1 47183657 47183657 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:47183657C>G uc001cqk.3 - 1 1080 c.103G>C c.(103-105)GAG>CAG p.E35Q KIAA0494_uc010omh.1_Missense_Mutation_p.E35Q|KIAA0494_uc001cql.1_Missense_Mutation_p.E35Q NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 35 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) TCGGGAGGCTCAGTGCGAAGC 0.542 NA 20 49 0 0 0 0 GBP7 388646 broad.mit.edu 37 1 89616257 89616257 + Silent SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:89616257G>A uc001dna.2 - 6 766 c.627C>T c.(625-627)GGC>GGT p.G209G GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 209 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GGGGATTCTTGCCTGCAGAAT 0.403 NA 11 67 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109810498 109810498 + Nonsense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:109810498C>G uc001dxa.3 + 17 6195 c.6134C>G c.(6133-6135)TCA>TGA p.S2045* NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2045 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGGAATGAGTCAGGCCTAGAC 0.632 NA 3 31 0 0 0 0 SORT1 6272 broad.mit.edu 37 1 109897086 109897086 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:109897086G>A uc001dxm.1 - 5 660 c.611C>T c.(610-612)GCG>GTG p.A204V SORT1_uc010ovi.1_Missense_Mutation_p.A68V|SORT1_uc009wfb.2_Missense_Mutation_p.A68V NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 204 Extracellular (Potential).|BNR 2. endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) AAAATTCTTCGCAAAATCTGA 0.418 NA 30 77 0 0 0 0 ATP8B2 57198 broad.mit.edu 37 1 154306629 154306629 + Silent SNP C C T rs142408071 by1000genomes TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:154306629C>T uc001fey.1 + 9 882 c.693C>T c.(691-693)AGC>AGT p.S231S ATP8B2_uc001few.2_Silent_p.S212S|ATP8B2_uc001fex.2_Silent_p.S245S NM_001005855 NP_001005855 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform b 231 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACAAATTCAGCGGAACCCTCT 0.517 NA 104 167 0 0 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204413526 204413526 + Missense_Mutation SNP A A T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:204413526A>T uc001haw.2 - 18 3184 c.2705T>A c.(2704-2706)ATG>AAG p.M902K PIK3C2B_uc010pqv.1_Missense_Mutation_p.M874K NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 902 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTGCACAGCCATACGACGCAC 0.587 NA 4 15 0 0 0 0 NLRP3 114548 broad.mit.edu 37 1 247587937 247587937 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr1:247587937C>G uc001icr.2 + 5 1330 c.1192C>G c.(1192-1194)CTG>GTG p.L398V NLRP3_uc001ics.2_Missense_Mutation_p.L398V|NLRP3_uc001icu.2_Missense_Mutation_p.L398V|NLRP3_uc001icw.2_Missense_Mutation_p.L398V|NLRP3_uc001icv.2_Missense_Mutation_p.L398V|NLRP3_uc010pyw.1_Missense_Mutation_p.L396V|NLRP3_uc001ict.1_Missense_Mutation_p.L396V NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 398 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGCCTTCAGTCTGATTCAGGA 0.537 NA 23 42 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16873286 16873286 + Missense_Mutation SNP C C T rs143300012 byFrequency TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr10:16873286C>T uc001ioo.2 - 65 10545 c.10493G>A c.(10492-10494)CGT>CAT p.R3498H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3498 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCATATCCACGATCAGAAGT 0.393 NA 20 24 0 0 0 0 ARMC4 55130 broad.mit.edu 37 10 28272787 28272787 + Silent SNP T T A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr10:28272787T>A uc009xky.2 - 6 902 c.804A>T c.(802-804)GGA>GGT p.G268G ARMC4_uc010qds.1_5'Flank|ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Silent_p.G268G|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 268 binding ovary(4)|skin(2) 6 TTAAAAATACTCCTCCTGCAC 0.433 NA 12 26 0 0 0 0 OR13A1 79290 broad.mit.edu 37 10 45799323 45799323 + Missense_Mutation SNP C C G rs116633831 byFrequency TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr10:45799323C>G uc001jcc.1 - 4 857 c.548G>C c.(547-549)CGC>CCC p.R183P OR13A1_uc001jcd.1_Missense_Mutation_p.R179P NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAAATCCAAGCGCAGCATCAG 0.592 NA 20 48 0 0 0 0 MYPN 84665 broad.mit.edu 37 10 69881386 69881386 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr10:69881386C>T uc001jnm.3 + 3 376 c.191C>T c.(190-192)TCA>TTA p.S64L MYPN_uc001jnl.1_Missense_Mutation_p.S64L|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.S64L|MYPN_uc001jnp.1_Missense_Mutation_p.S64L|MYPN_uc009xps.2_Missense_Mutation_p.S64L|MYPN_uc009xpt.2_Missense_Mutation_p.S64L|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 64 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CCAGATCTTTCAGCCTTTCTG 0.527 NA 19 53 0 0 0 0 CALHM2 51063 broad.mit.edu 37 10 105207026 105207026 + Nonsense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr10:105207026G>C uc001kwz.2 - 3 1241 c.855C>G c.(853-855)TAC>TAG p.Y285* CALHM2_uc001kxa.2_Nonsense_Mutation_p.Y285*|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Nonsense_Mutation_p.Y285* NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 285 integral to membrane skin(1) 1 CACGGTACAAGTAGACGCCGG 0.617 NA 19 43 0 0 0 0 FXC1 26515 broad.mit.edu 37 11 6503307 6503307 + Silent SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:6503307G>C uc001mdn.3 + 3 238 c.168G>C c.(166-168)CTG>CTC p.L56L ARFIP2_uc001mdk.2_5'Flank|ARFIP2_uc001mdl.2_5'Flank|ARFIP2_uc010ral.1_5'Flank|ARFIP2_uc010ram.1_5'Flank|ARFIP2_uc010ran.1_5'Flank|ARFIP2_uc001mdm.2_5'Flank|ARFIP2_uc009yfe.1_5'Flank|FXC1_uc001mdo.3_RNA NM_012192 NP_036324 Q9Y5J6 TIM9B_HUMAN mitochondrial import inner membrane translocase 56 cell-matrix adhesion|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex metal ion binding 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.26e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGGGAAGCTGATCCATTCCA 0.602 NA 21 58 0 0 0 0 FIBIN 387758 broad.mit.edu 37 11 27016191 27016191 + Missense_Mutation SNP G G C rs144159497 TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:27016191G>C uc001mrd.2 + 1 564 c.118G>C c.(118-120)GAT>CAT p.D40H NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 40 extracellular region|Golgi apparatus 0 CTTCGTGCCCGATGGGGACTA 0.592 NA 18 17 0 0 0 0 PDHX 8050 broad.mit.edu 37 11 34978997 34978997 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:34978997G>C uc001mvt.2 + 4 935 c.409G>C c.(409-411)GAT>CAT p.D137H PDHX_uc010rep.1_Missense_Mutation_p.D122H|PDHX_uc010req.1_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 137 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) AGAAGGAGAAGATTGGAAACA 0.403 NA 20 55 0 0 0 0 RAG1 5896 broad.mit.edu 37 11 36595094 36595094 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:36595094G>C uc001mwu.3 + 2 364 c.240G>C c.(238-240)TTG>TTC p.L80F RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 80 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) CTCAGCCATTGTTAAAAGCCC 0.488 NA Familial_Hemophagocytic_Lymphohistiocytosis 17 108 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62291028 62291028 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62291028C>T uc001ntl.2 - 5 11161 c.10861G>A c.(10861-10863)GAA>AAA p.E3621K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3621 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACATCGACTTCAGGGCCTTCT 0.483 NA 78 81 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62291184 62291184 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62291184C>T uc001ntl.2 - 5 11005 c.10705G>A c.(10705-10707)GAA>AAA p.E3569K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3569 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AGATCCCCTTCAAGTTTGGGA 0.458 NA 83 55 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62292529 62292529 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62292529C>T uc001ntl.2 - 5 9660 c.9360G>A c.(9358-9360)ATG>ATA p.M3120I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3120 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CAGGAACTTTCATGTCACCTT 0.468 NA 92 99 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62292958 62292958 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62292958C>T uc001ntl.2 - 5 9231 c.8931G>A c.(8929-8931)GTG>GTA p.V2977V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2977 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CATCGCCCTTCACCTTGGGAC 0.507 NA 66 67 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62294979 62294979 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62294979C>G uc001ntl.2 - 5 7210 c.6910G>C c.(6910-6912)GAG>CAG p.E2304Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2304 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAGTGCATCTCAGGCATCTTA 0.478 NA 80 87 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62295736 62295736 + Missense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62295736C>A uc001ntl.2 - 5 6453 c.6153G>T c.(6151-6153)ATG>ATT p.M2051I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2051 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGCATTTTCATCTTGGGCA 0.512 NA 137 127 7.45e-56 8.85e-56 1 0 AHNAK 79026 broad.mit.edu 37 11 62296638 62296638 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62296638C>T uc001ntl.2 - 5 5551 c.5251G>A c.(5251-5253)GAT>AAT p.D1751N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1751 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCAGGAGCATCAGTGTCCACA 0.483 NA 76 62 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92523229 92523229 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:92523229G>C uc001pdj.3 + 7 4473 c.4456G>C c.(4456-4458)GAT>CAT p.D1486H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1486 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGAAGCCACAGATAGAGATGA 0.468 NA TCGA Ovarian(4;0.039) 41 44 0 0 0 0 SLC6A13 6540 broad.mit.edu 37 12 332337 332337 + Missense_Mutation SNP C C A rs145396701 by1000genomes TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:332337C>A uc001qic.1 - 12 1428 c.1375G>T c.(1375-1377)GTG>TTG p.V459L SLC6A13_uc009zdj.1_Missense_Mutation_p.V449L|SLC6A13_uc010sdl.1_Missense_Mutation_p.V367L NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 459 Helical; Name=10; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AAGATGGCCACGAACAGGAGG 0.522 NA 7 22 7.48e-07 8.39e-07 1 0 NINJ2 4815 broad.mit.edu 37 12 675268 675268 + Missense_Mutation SNP A A G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:675268A>G uc001qil.2 - 2 339 c.248T>C c.(247-249)ATG>ACG p.M83T NINJ2_uc010sdr.1_Missense_Mutation_p.M1T|NINJ2_uc010sds.1_Missense_Mutation_p.M83T NM_016533 NP_057617 Q9NZG7 NINJ2_HUMAN ninjurin 2 37 Extracellular (Potential). nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane ovary(2) 2 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CACGTCCAGCATGCTCTCCGC 0.602 NA 11 34 0 0 0 0 LALBA 3906 broad.mit.edu 37 12 48962875 48962875 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:48962875G>C uc001rrt.2 - 2 308 c.282C>G c.(280-282)ATC>ATG p.I94M NM_002289 NP_002280 P00709 LALBA_HUMAN lactalbumin, alpha- precursor 94 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity 0 TGTCACAGGAGATGTCACAGA 0.468 NA 19 76 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49443703 49443703 + Nonsense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:49443703G>C uc001rta.3 - 11 3668 c.3668C>G c.(3667-3669)TCA>TGA p.S1223* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1223 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 GAGGGGCTCTGAGCCAGGAAA 0.612 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 29 42 0 0 0 0 OAS2 4939 broad.mit.edu 37 12 113442855 113442855 + Silent SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:113442855C>A uc001tuj.2 + 7 1436 c.1296C>A c.(1294-1296)GTC>GTA p.V432V OAS2_uc001tui.1_Silent_p.V432V NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 432 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 ACAAAATCGTCAAGGAAATCC 0.507 NA 4 27 0.00024832 0.00026653 1 0 BRCA2 675 broad.mit.edu 37 13 32903578 32903578 + Splice_Site SNP A A C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr13:32903578A>C uc001uub.1 + 8 859 c.632_splice c.e8-2 p.V211_splice BRCA2_uc001uua.1_Splice_Site_p.V88_splice NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 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 p.?(1) 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) TTTATCTTACAGTCAGAAATG 0.284 NA 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) 5 2 0 0 0 0 C13orf23 80209 broad.mit.edu 37 13 39587551 39587551 + Missense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr13:39587551C>A uc001uwy.2 - 11 2711 c.1838G>T c.(1837-1839)AGT>ATT p.S613I C13orf23_uc001uwz.2_Missense_Mutation_p.S591I NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 613 Ser-rich. ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GGGAGTAGGACTTGTGGGCTC 0.502 NA 37 50 1.31e-17 1.55e-17 1 0 PCDH8 5100 broad.mit.edu 37 13 53419750 53419750 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr13:53419750C>T uc001vhi.2 - 2 2852 c.2649G>A c.(2647-2649)CCG>CCA p.P883P PCDH8_uc001vhj.2_Silent_p.P786P NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 883 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTCCAAAACCCGGGGAGGCAC 0.557 NA 4 32 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 92051386 92051386 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr13:92051386C>T uc010tif.1 + 1 452 c.86C>T c.(85-87)ACC>ATC p.T29I NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 29 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GGCGTGCAGACCTGCGAAGAA 0.672 NA 14 5 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44862786 44862786 + Silent SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:44862786G>A uc001ztx.2 - 34 6445 c.6414C>T c.(6412-6414)GTC>GTT p.V2138V SPG11_uc010bdw.2_Silent_p.V268V|SPG11_uc010ueh.1_Silent_p.V2025V|SPG11_uc010uei.1_Silent_p.V2138V NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 2138 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CGGCCTGTAGGACTCGGATGA 0.592 NA 4 20 0 0 0 0 SEMA6D 80031 broad.mit.edu 37 15 48060877 48060877 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:48060877G>A uc010bek.2 + 18 2225 c.1865G>A c.(1864-1866)CGG>CAG p.R622Q SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.R622Q|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 622 Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACAAGCTCTCGGAAATTTGTA 0.428 NA 13 60 0 0 0 0 TEX9 374618 broad.mit.edu 37 15 56719843 56719843 + Missense_Mutation SNP A A T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:56719843A>T uc002adp.2 + 11 1009 c.1004A>T c.(1003-1005)AAA>ATA p.K335I TEX9_uc010ugl.1_Missense_Mutation_p.K260I NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 335 Potential. 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) GAAGTGTTAAAATCAGAAAAC 0.279 NA 10 42 0 0 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306120 58306120 + Nonsense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:58306120G>C uc002aex.2 - 3 357 c.299C>G c.(298-300)TCA>TGA p.S100* ALDH1A2_uc002aey.2_Nonsense_Mutation_p.S100*|ALDH1A2_uc010ugv.1_Nonsense_Mutation_p.S79*|ALDH1A2_uc010ugw.1_Nonsense_Mutation_p.S71*|ALDH1A2_uc002aew.2_Nonsense_Mutation_p.S4* NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 100 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCCCCTTTCTGAAGCATCCAT 0.488 NA 47 149 0 0 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64495283 64495283 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:64495283G>C uc002anf.2 - 10 1585 c.1105C>G c.(1105-1107)CAG>GAG p.Q369E CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.Q369E|CSNK1G1_uc002anh.1_Missense_Mutation_p.Q369E|CSNK1G1_uc002anj.2_Missense_Mutation_p.Q351E NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 369 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 ACACATACCTGATTTCGAAGA 0.443 NA 6 10 0 0 0 0 AEN 64782 broad.mit.edu 37 15 89169569 89169569 + Silent SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:89169569G>A uc002bmt.2 + 2 280 c.129G>A c.(127-129)CGG>CGA p.R43R AEN_uc010bnl.2_Silent_p.R43R|AEN_uc010bnm.1_Silent_p.R43R NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 43 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 TCATGGCCCGGAAGGCCTTGC 0.627 NA 22 5 0 0 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771754 90771754 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr15:90771754G>C uc002boy.2 + 15 2676 c.2393G>C c.(2392-2394)CGA>CCA p.R798P SEMA4B_uc002boz.2_Missense_Mutation_p.R798P|SEMA4B_uc010uqd.1_Missense_Mutation_p.R636P|SEMA4B_uc002bpa.2_Missense_Mutation_p.R636P|SEMA4B_uc010bnv.1_Intron NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CCGGGGTCCCGAGTCTTCACT 0.677 NA 10 12 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2333284 2333284 + Nonsense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:2333284G>C uc002cpy.1 - 26 4650 c.3938C>G c.(3937-3939)TCA>TGA p.S1313* ABCA3_uc010bsk.1_Nonsense_Mutation_p.S1255* NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1313 Helical; (Potential). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GGCGCACCCTGAGGCGGCCAT 0.647 NA 12 27 0 0 0 0 ACSM1 116285 broad.mit.edu 37 16 20673130 20673130 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:20673130C>T uc002dhm.1 - 6 1046 c.978G>A c.(976-978)CAG>CAA p.Q326Q ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.Q326Q NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 326 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 TGAAATCCTGCTGCAGAATCA 0.368 NA 18 26 0 0 0 0 ITGAX 3687 broad.mit.edu 37 16 31374532 31374532 + Missense_Mutation SNP A A T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:31374532A>T uc002ebu.1 + 14 1614 c.1547A>T c.(1546-1548)CAC>CTC p.H516L ITGAX_uc002ebt.2_Missense_Mutation_p.H516L|ITGAX_uc010vfk.1_Missense_Mutation_p.H166L NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 516 Extracellular (Potential).|FG-GAP 6. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAGCAGGGCCACCCCTGGGGT 0.632 NA 19 80 0 0 0 0 ZNF319 57567 broad.mit.edu 37 16 58031375 58031375 + Missense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:58031375C>A uc002emx.1 - 2 1418 c.795G>T c.(793-795)AAG>AAT p.K265N NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 265 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTTGAAGGTCTTCTCGCAGA 0.612 NA 9 37 3.1e-07 3.53e-07 1 0 HYDIN 54768 broad.mit.edu 37 16 70843707 70843707 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:70843707C>G uc002ezr.2 - 85 14987 c.14859G>C c.(14857-14859)CAG>CAC p.Q4953H HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4954 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATTCTGTCCTCTGCCGTGTGT 0.517 NA 58 94 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T rs121912657 TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:7577124C>T uc002gim.2 - 8 1008 c.814G>A c.(814-816)GTG>ATG p.V272M TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140M|TP53_uc010cng.1_Missense_Mutation_p.V140M|TP53_uc002gii.1_Missense_Mutation_p.V140M|TP53_uc010cnh.1_Missense_Mutation_p.V272M|TP53_uc010cni.1_Missense_Mutation_p.V272M|TP53_uc002gij.2_Missense_Mutation_p.V272M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 272 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V272M(67)|p.V272L(24)|p.V272E(8)|p.0?(7)|p.V272A(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAACACGCACCTCAAAGCTG 0.527 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 8 0 0 0 0 ALOXE3 59344 broad.mit.edu 37 17 8017844 8017844 + Nonsense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:8017844G>C uc010cnr.2 - 6 1008 c.638C>G c.(637-639)TCA>TGA p.S213* ALOXE3_uc002gka.2_Nonsense_Mutation_p.S369*|ALOXE3_uc010vuo.1_Nonsense_Mutation_p.S345*|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 213 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 CTTGGTGGCTGAGTATCGAAC 0.502 NA 21 44 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12655998 12655998 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:12655998C>T uc002gnn.2 + 10 1692 c.1393C>T c.(1393-1395)CTG>TTG p.L465L MYOCD_uc002gno.2_Silent_p.L465L|MYOCD_uc002gnp.1_Silent_p.L369L|MYOCD_uc002gnq.2_Silent_p.L184L NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 465 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTCCTCTGACCTGTCAGTCGC 0.612 NA 18 79 0 0 0 0 ULK2 9706 broad.mit.edu 37 17 19698941 19698941 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:19698941C>G uc002gwm.3 - 20 2604 c.2095G>C c.(2095-2097)GAT>CAT p.D699H ULK2_uc002gwn.2_Missense_Mutation_p.D699H NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 699 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TTACCTATATCCATTGGTCGT 0.294 NA 43 65 0 0 0 0 ULK2 9706 broad.mit.edu 37 17 19699443 19699443 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:19699443C>T uc002gwm.3 - 19 2471 c.1962G>A c.(1960-1962)CAG>CAA p.Q654Q ULK2_uc002gwn.2_Silent_p.Q654Q NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 654 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) GCTCGGCCCGCTGCCTCTCAC 0.473 NA 37 47 0 0 0 0 DHRS13 147015 broad.mit.edu 37 17 27228113 27228113 + Nonsense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:27228113C>A uc002hde.3 - 4 704 c.577G>T c.(577-579)GAG>TAG p.E193* DHRS13_uc002hdd.3_Nonsense_Mutation_p.E143*|DHRS13_uc010wba.1_Nonsense_Mutation_p.E112* NM_144683 NP_653284 Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 193 extracellular region binding|oxidoreductase activity 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GCCCGCAGCTCCTGCCGCCAG 0.632 NA 18 39 4.35e-09 5.06e-09 1 0 MMP28 79148 broad.mit.edu 37 17 34093598 34093598 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:34093598G>C uc002hjy.1 - 10 1743 c.1484C>G c.(1483-1485)GCA>GGA p.A495G MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 495 Hemopexin-like 4. proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CGAGGTGGTTGCCTGCAGTTT 0.662 NA 3 12 0 0 0 0 DDX52 11056 broad.mit.edu 37 17 35986901 35986901 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:35986901G>C uc002hoi.1 - 7 903 c.865C>G c.(865-867)CTT>GTT p.L289V DDX52_uc002hoh.1_Missense_Mutation_p.L181V NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 289 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) GTAGTCACAAGAATATCTATA 0.358 NA 9 34 0 0 0 0 ZPBP2 124626 broad.mit.edu 37 17 38032946 38032946 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:38032946C>G uc002hte.2 + 8 1054 c.901C>G c.(901-903)CCT>GCT p.P301A ZPBP2_uc002htf.2_Missense_Mutation_p.P279A NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 isoform 2 301 binding of sperm to zona pellucida extracellular region ovary(1) 1 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GGTTTGTAGTCCTGCGACTTT 0.373 NA 24 89 0 0 0 0 KRT10 3858 broad.mit.edu 37 17 38976763 38976763 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:38976763C>G uc002hvi.2 - 3 893 c.867G>C c.(865-867)GAG>GAC p.E289D KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 289 Coil 1B.|Rod.|Gly-rich. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) TTTGTGTCACCTCCTCGTGGT 0.468 NA 9 67 0 0 0 0 FZD2 2535 broad.mit.edu 37 17 42636331 42636331 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:42636331C>G uc002igx.1 + 1 1407 c.1275C>G c.(1273-1275)TTC>TTG p.F425L NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 425 Helical; Name=5; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGTACCTGTTCATCGGCACGT 0.637 NA 12 51 0 0 0 0 INTS2 57508 broad.mit.edu 37 17 59962319 59962319 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:59962319G>C uc002izn.2 - 16 2132 c.2056C>G c.(2056-2058)CAG>GAG p.Q686E INTS2_uc002izm.2_Missense_Mutation_p.Q678E NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 686 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 ATAGGAATCTGATCCATTAAA 0.333 NA 7 7 0 0 0 0 SGSH 6448 broad.mit.edu 37 17 78184560 78184560 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr17:78184560C>T uc002jxz.3 - 8 1287 c.1200G>A c.(1198-1200)CAG>CAA p.Q400Q SGSH_uc002jya.3_Silent_p.Q197Q|SGSH_uc002jxy.2_3'UTR NM_000199 NP_000190 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase precursor 400 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGTAGAAGTCCTGGTCGATGG 0.602 NA 25 46 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8154783 8154783 + Missense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr19:8154783C>A uc002mjf.2 - 49 6266 c.6245G>T c.(6244-6246)CGA>CTA p.R2082L FBN3_uc002mje.2_5'UTR NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2082 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CTCACCTTCTCGGGAGTCATC 0.647 NA 5 3 1.24e-05 1.37e-05 1 0 CACNA1A 773 broad.mit.edu 37 19 13409899 13409899 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr19:13409899C>T uc010dze.2 - 19 2787 c.2551G>A c.(2551-2553)GGC>AGC p.G851S CACNA1A_uc010dzc.2_Missense_Mutation_p.G376S|CACNA1A_uc002mwy.3_Missense_Mutation_p.G850S|CACNA1A_uc010xne.1_Missense_Mutation_p.G379S NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 851 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGCTGCTGGCCGAGGCGCTGG 0.721 NA 10 10 0 0 0 0 BRD4 23476 broad.mit.edu 37 19 15355574 15355574 + Splice_Site SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr19:15355574C>T uc002nar.2 - 12 2381 c.2159_splice c.e12-1 p.E720_splice NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGAGCCATCTCTGCAGAGGAA 0.547 NA T NUT|C15orf55 lethal midline carcinoma of young people 37 75 0 0 0 0 ZNF382 84911 broad.mit.edu 37 19 37117054 37117054 + Silent SNP T T C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr19:37117054T>C uc002oek.2 + 5 368 c.255T>C c.(253-255)GAT>GAC p.D85D ZNF382_uc010efa.2_Silent_p.D36D|ZNF382_uc010efb.2_Silent_p.D84D|ZNF382_uc002oel.2_Silent_p.D84D NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 85 Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAACTGAAGATGTCTTAGTGA 0.343 NA 16 36 0 0 0 0 EPN1 29924 broad.mit.edu 37 19 56203256 56203256 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr19:56203256C>T uc002qlw.2 + 7 1241 c.899C>T c.(898-900)CCT>CTT p.P300L EPN1_uc002qlv.2_Missense_Mutation_p.P275L|EPN1_uc010etd.2_Missense_Mutation_p.P300L|EPN1_uc002qlx.2_Missense_Mutation_p.P386L NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 300 Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GGCGGCCCCCCTGTCCCTCCA 0.751 NA 12 37 0 0 0 0 ZNF324B 388569 broad.mit.edu 37 19 58965127 58965127 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr19:58965127C>G uc002qsv.1 + 2 166 c.59C>G c.(58-60)ACA>AGA p.T20R ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.T20R NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTCCTGGACACAGCGCAGAGG 0.572 NA 21 49 0 0 0 0 ADAM17 6868 broad.mit.edu 37 2 9642395 9642395 + Missense_Mutation SNP T T A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:9642395T>A uc002qzu.2 - 13 1738 c.1555A>T c.(1555-1557)AGT>TGT p.S519C ADAM17_uc010ewy.2_Missense_Mutation_p.S519C|ADAM17_uc010ewz.2_Intron NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 519 Disintegrin.|Extracellular (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CAGCAAGGACTGTTCCTGTCA 0.468 NA 43 40 0 0 0 0 YWHAQ 10971 broad.mit.edu 37 2 9728378 9728378 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:9728378G>C uc002qzw.2 - 3 662 c.498C>G c.(496-498)ATC>ATG p.I166M YWHAQ_uc002qzx.2_Missense_Mutation_p.I166M NM_006826 NP_006817 P27348 1433T_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 166 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) GCCCCAGGCGGATTGGGTGTG 0.428 NA 26 21 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27803934 27803934 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:27803934G>C uc002rkz.3 + 1 4546 c.4495G>C c.(4495-4497)GAG>CAG p.E1499Q ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1499 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CTCCAGCCAGGAGTCTAAGAA 0.478 NA 34 71 0 0 0 0 ALK 238 broad.mit.edu 37 2 30143411 30143411 + Nonsense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:30143411G>A uc002rmy.2 - 1 1022 c.115C>T c.(115-117)CAG>TAG p.Q39* NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 39 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TCCCGGGGCTGCAGCGGCGGC 0.706 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 4 12 0 0 0 0 HEATR5B 54497 broad.mit.edu 37 2 37310507 37310507 + Silent SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:37310507G>A uc002rpp.1 - 2 147 c.51C>T c.(49-51)ATC>ATT p.I17I CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 17 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TTGCTTCGGTGATTTGAGCCA 0.363 NA 14 38 0 0 0 0 GPR39 2863 broad.mit.edu 37 2 133402786 133402786 + Missense_Mutation SNP G G T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:133402786G>T uc002ttl.2 + 2 1438 c.969G>T c.(967-969)ATG>ATT p.M323I LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 323 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 GGGCGTACATGATCCTCCTCC 0.587 NA 21 45 1.98e-07 2.26e-07 1 0 SCRN3 79634 broad.mit.edu 37 2 175263019 175263019 + Missense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:175263019C>A uc002uiq.2 + 2 96 c.8C>A c.(7-9)CCT>CAT p.P3H CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 3 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) AAAATGGAACCTTTTTCCTGT 0.289 NA 6 55 0.00116845 0.00123763 1 0 GPR155 151556 broad.mit.edu 37 2 175330545 175330545 + Missense_Mutation SNP T T C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:175330545T>C uc002uit.2 - 8 1743 c.1352A>G c.(1351-1353)TAC>TGC p.Y451C GPR155_uc002uiu.2_Missense_Mutation_p.Y451C|GPR155_uc002uiv.2_Missense_Mutation_p.Y451C|GPR155_uc010fqs.2_Missense_Mutation_p.Y423C NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 451 Helical; (Potential). intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 GAGGGAGCTGTACAATAGAAC 0.388 NA 5 15 0 0 0 0 MSTN 2660 broad.mit.edu 37 2 190927237 190927237 + Missense_Mutation SNP T T C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:190927237T>C uc002urp.2 - 1 219 c.86A>G c.(85-87)CAA>CGA p.Q29R NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 29 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ATTTTCTTTTTGCTCACTGTT 0.348 NA 35 74 0 0 0 0 CLK1 1195 broad.mit.edu 37 2 201726085 201726085 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:201726085C>G uc002uwe.2 - 3 447 c.266G>C c.(265-267)CGC>CCC p.R89P CLK1_uc010zhi.1_Missense_Mutation_p.R131P|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 89 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 GTCTCTTTGGCGATGTCCAGG 0.403 NA 50 101 0 0 0 0 USP37 57695 broad.mit.edu 37 2 219362475 219362475 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:219362475G>C uc002vie.2 - 13 1716 c.1263C>G c.(1261-1263)TTC>TTG p.F421L USP37_uc010fvs.1_Missense_Mutation_p.F421L|USP37_uc010zkf.1_Missense_Mutation_p.F421L|USP37_uc002vif.2_Missense_Mutation_p.F421L|USP37_uc002vig.2_Missense_Mutation_p.F349L NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 421 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TATAACCAGAGAATCTCTCTG 0.244 NA 21 38 0 0 0 0 C2orf83 56918 broad.mit.edu 37 2 228476316 228476316 + Missense_Mutation SNP C C T rs111332429 byFrequency TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:228476316C>T uc002vph.2 - 3 482 c.247G>A c.(247-249)GTA>ATA p.V83I C2orf83_uc010zlu.1_3'UTR NM_020161 NP_064546 Q53S99 CB083_HUMAN hypothetical protein LOC56918 isoform 1 83 membrane folic acid binding|reduced folate carrier activity 0 CATGTCTGTACGGTAAGTTTC 0.468 NA 22 38 0 0 0 0 DNER 92737 broad.mit.edu 37 2 230272008 230272008 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:230272008C>G uc002vpv.2 - 10 1810 c.1663G>C c.(1663-1665)GGA>CGA p.G555R NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 555 Extracellular (Potential).|Follistatin-like.|EGF-like 9. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAGGTGGCTCCGTTCAGACAG 0.512 NA 18 79 0 0 0 0 STK25 10494 broad.mit.edu 37 2 242441064 242441064 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr2:242441064C>T uc002wbm.2 - 2 361 c.90G>A c.(88-90)TCG>TCA p.S30S STK25_uc002wbk.2_5'Flank|STK25_uc002wbl.2_5'Flank|STK25_uc002wbn.2_Silent_p.S30S|STK25_uc002wbo.2_Intron|STK25_uc010zos.1_5'UTR|STK25_uc010zot.1_5'UTR|STK25_uc002wbp.2_Silent_p.S30S|STK25_uc010fzo.2_Intron|STK25_uc010zou.1_5'UTR|STK25_uc010zov.1_5'UTR|STK25_uc010zow.1_Silent_p.S30S NM_006374 NP_006365 O00506 STK25_HUMAN serine/threonine kinase 25 30 ATP (By similarity).|Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CCTCCCCAAACGAGCCCTTGC 0.612 NA 5 73 0 0 0 0 C20orf117 140710 broad.mit.edu 37 20 35444329 35444329 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr20:35444329C>G uc002xgd.1 - 5 1129 c.802G>C c.(802-804)GGG>CGG p.G268R C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 268 0 Myeloproliferative disorder(115;0.00874) AAGCTCTCCCCGCACTCTCCG 0.662 NA 4 5 0 0 0 0 PRDM15 63977 broad.mit.edu 37 21 43258051 43258051 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr21:43258051C>T uc002yzq.1 - 15 2202 c.2091G>A c.(2089-2091)TCG>TCA p.S697S PRDM15_uc002yzo.2_Silent_p.S368S|PRDM15_uc002yzp.2_Silent_p.S368S|PRDM15_uc002yzr.1_Silent_p.S368S NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 697 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTTTGGAACCGAGCTGGTGT 0.627 NA 23 52 0 0 0 0 POTEH 23784 broad.mit.edu 37 22 16279217 16279217 + Missense_Mutation SNP T T A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr22:16279217T>A uc010gqp.2 - 4 1058 c.1006A>T c.(1006-1008)AAT>TAT p.N336Y POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.N55Y|POTEH_uc002zlj.1_Missense_Mutation_p.N171Y NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 336 ANK 5. skin(1) 1 TCCAGTGCATTTAAATTTGCT 0.313 NA 29 221 0 0 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20130547 20130547 + Missense_Mutation SNP T T C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr22:20130547T>C uc002zrq.2 + 10 1500 c.1394T>C c.(1393-1395)TTT>TCT p.F465S ZDHHC8_uc002zrr.1_Missense_Mutation_p.F465S|ZDHHC8_uc010gsa.2_Missense_Mutation_p.F271S NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 465 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CGTAGCATTTTTGCCCCCCAT 0.701 NA 6 62 0 0 0 0 LIF 3976 broad.mit.edu 37 22 30639706 30639706 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr22:30639706C>G uc003agz.2 - 3 655 c.543G>C c.(541-543)AAG>AAC p.K181N LIF_uc011aks.1_3'UTR|uc003aha.2_5'Flank NM_002309 NP_002300 P15018 LIF_HUMAN leukemia inhibitory factor (cholinergic 181 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding 0 Epithelial(10;0.171) AGCCCAGCTTCTTCTTCTGGA 0.572 NA 30 87 0 0 0 0 GGA1 26088 broad.mit.edu 37 22 38016337 38016337 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr22:38016337C>G uc003atc.2 + 5 761 c.396C>G c.(394-396)ATC>ATG p.I132M GGA1_uc003atd.2_Missense_Mutation_p.I132M|GGA1_uc003ate.2_Missense_Mutation_p.I132M|GGA1_uc003atf.2_Missense_Mutation_p.I59M NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 132 Interaction with ARF3.|VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|ovary(1) 3 Melanoma(58;0.0574) AGGTGAAAATCGCAGAGGCCT 0.612 NA 24 84 0 0 0 0 CSNK1E 1454 broad.mit.edu 37 22 38694865 38694865 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr22:38694865G>C uc003avj.2 - 7 1072 c.811C>G c.(811-813)CAG>GAG p.Q271E CSNK1E_uc003avk.2_Missense_Mutation_p.Q271E|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.Q271E|CSNK1E_uc003avo.2_Missense_Mutation_p.Q271E|CSNK1E_uc003avp.1_Missense_Mutation_p.Q271E|CSNK1E_uc003avq.1_Missense_Mutation_p.Q271E NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 271 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) CGGAAGAGCTGACGTAGGTAA 0.547 NA OREG0026559 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 122 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180328289 180328289 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr3:180328289G>A uc003fkk.2 + 12 2404 c.2272G>A c.(2272-2274)GCT>ACT p.A758T TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 758 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAATCAGATAGCTGAATTTGA 0.313 NA 8 86 0 0 0 0 MCF2L2 23101 broad.mit.edu 37 3 183006931 183006931 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr3:183006931C>T uc003fli.1 - 14 1843 c.1753G>A c.(1753-1755)GAT>AAT p.D585N MCF2L2_uc003flj.1_Missense_Mutation_p.D585N|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 585 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTAGTCTCATCATCTTCCTTT 0.403 NA 21 33 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195516484 195516484 + Missense_Mutation SNP G G C rs3749330 by1000genomes TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr3:195516484G>C uc011bto.1 - 2 2427 c.1967C>G c.(1966-1968)TCC>TGC p.S656C MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S538C NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 661 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGTCATGGGGGAGACGGACCT 0.562 NA 12 172 0 0 0 0 FAM193A 8603 broad.mit.edu 37 4 2717749 2717749 + Splice_Site SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr4:2717749G>C uc010icl.2 + 19 3974 c.3623_splice c.e19-1 p.D1208_splice FAM193A_uc010ick.2_Splice_Site_p.D1367_splice|FAM193A_uc003gfd.2_Splice_Site_p.D1167_splice|FAM193A_uc011bvm.1_Splice_Site_p.D1189_splice|FAM193A_uc011bvn.1_Splice_Site_p.D1167_splice|FAM193A_uc011bvo.1_Splice_Site|FAM193A_uc010icm.2_Splice_Site NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 ovary(3) 3 TTGTTTTACAGATGATGTCTT 0.378 NA 28 52 0 0 0 0 RBPJ 3516 broad.mit.edu 37 4 26432465 26432465 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr4:26432465G>C uc003grx.1 + 12 1575 c.1339G>C c.(1339-1341)GAA>CAA p.E447Q RBPJ_uc003gry.1_Missense_Mutation_p.E432Q|RBPJ_uc003grz.1_Missense_Mutation_p.E447Q|RBPJ_uc003gsa.1_Missense_Mutation_p.E433Q|RBPJ_uc003gsb.1_Missense_Mutation_p.E434Q|RBPJ_uc003gsc.1_3'UTR|uc003gsd.2_5'Flank NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 447 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) CTACACACCAGAACCAGGGCC 0.527 NA 17 41 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62849282 62849282 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr4:62849282C>T uc010ihh.2 + 16 3166 c.2993C>T c.(2992-2994)TCA>TTA p.S998L LPHN3_uc003hcq.3_Missense_Mutation_p.S998L|LPHN3_uc003hct.2_Missense_Mutation_p.S391L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 985 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GTGGCTGTGTCAGCTGCAGTA 0.383 NA 36 90 0 0 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360953 70360953 + Silent SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr4:70360953C>T uc003hek.3 - 1 674 c.627G>A c.(625-627)GAG>GAA p.E209E UGT2B4_uc011cap.1_Silent_p.E73E|UGT2B4_uc003hel.3_Silent_p.E209E NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 209 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TTTTTACCCTCTCTATGAAAG 0.378 NA 11 29 0 0 0 0 ENAM 10117 broad.mit.edu 37 4 71509483 71509483 + Silent SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr4:71509483G>A uc011caw.1 + 9 2621 c.2340G>A c.(2338-2340)CCG>CCA p.P780P NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 780 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AAAGAAGGCCGTATTTTAACA 0.473 NA 20 35 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247255 153247255 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr4:153247255C>T uc003ims.2 - 10 1696 c.1547G>A c.(1546-1548)AGT>AAT p.S516N FBXW7_uc011cii.1_Missense_Mutation_p.S516N|FBXW7_uc003imt.2_Missense_Mutation_p.S516N|FBXW7_uc011cih.1_Missense_Mutation_p.S340N|FBXW7_uc003imq.2_Missense_Mutation_p.S436N|FBXW7_uc003imr.2_Missense_Mutation_p.S398N NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 516 WD 4. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATATGCTCCACTAACAACCCT 0.443 NA Mis|N|D|F colorectal|endometrial|T-ALL 22 122 0 0 0 0 HSPA4 3308 broad.mit.edu 37 5 132427046 132427046 + Nonsense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr5:132427046C>T uc003kyj.2 + 12 1821 c.1540C>T c.(1540-1542)CAG>TAG p.Q514* NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 514 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAAACAGATCAGAATGCAAA 0.438 NA 11 13 0 0 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234945 26234945 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:26234945C>T uc003nhd.2 - 1 272 c.217G>A c.(217-219)GAT>AAT p.D73N NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 73 H15. nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TTTTCTACATCGTAGCCAGCA 0.542 NA 34 80 0 0 0 0 SH3BGRL2 83699 broad.mit.edu 37 6 80383466 80383466 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:80383466C>G uc003piz.1 + 2 360 c.181C>G c.(181-183)CAG>GAG p.Q61E NM_031469 NP_113657 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein 61 SH3-binding (Potential). nucleus SH3 domain binding 0 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) GAAACCCACTCAGGGCAACCC 0.458 NA 27 60 0 0 0 0 MAP3K7 6885 broad.mit.edu 37 6 91246083 91246083 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:91246083C>G uc003pnz.1 - 13 1491 c.1329G>C c.(1327-1329)TTG>TTC p.L443F MAP3K7_uc003pny.1_5'UTR|MAP3K7_uc003poa.1_Missense_Mutation_p.L443F|MAP3K7_uc003pob.1_Missense_Mutation_p.L416F|MAP3K7_uc003poc.1_Missense_Mutation_p.L416F NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 443 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CAGTTACAGTCAAGTCTTGGA 0.343 NA 13 28 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111680071 111680071 + Silent SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:111680071G>A uc003puy.3 - 17 7349 c.7026C>T c.(7024-7026)CTC>CTT p.L2342L REV3L_uc003pux.3_Silent_p.L2264L|REV3L_uc003puz.3_Silent_p.L2264L|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2342 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTACACCTGTGAGTTCTGTTT 0.398 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 26 58 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117708099 117708099 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:117708099C>T uc003pxp.1 - 14 2277 c.2078G>A c.(2077-2079)AGC>AAC p.S693N ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 693 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGGGCCAAAGCTATTTAATGG 0.383 NA T GOPC|ROS1 glioblastoma|NSCLC 29 50 0 0 0 0 SNX9 51429 broad.mit.edu 37 6 158330947 158330947 + Missense_Mutation SNP A A G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:158330947A>G uc003qqv.1 + 9 1012 c.839A>G c.(838-840)AAT>AGT p.N280S NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 280 PX. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TAGAACACTAATCGATCTGTA 0.393 NA 32 56 0 0 0 0 WTAP 9589 broad.mit.edu 37 6 160176488 160176488 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:160176488G>A uc003qsl.2 + 8 1258 c.1036G>A c.(1036-1038)GAA>AAA p.E346K WTAP_uc003qso.2_Missense_Mutation_p.E227K NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 346 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) CACGGGCAGTGAAAACTCTCT 0.507 NA 24 41 0 0 0 0 MSRA 4482 broad.mit.edu 37 8 10285683 10285683 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:10285683C>T uc003wsx.2 + 6 766 c.569C>T c.(568-570)CCC>CTC p.P190L MSRA_uc011kwx.1_Missense_Mutation_p.P150L|MSRA_uc003wsz.2_Missense_Mutation_p.P147L|MSRA_uc003wsy.2_Missense_Mutation_p.P124L NM_012331 NP_036463 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A isoform a 190 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity 0 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) GGCTTCGGCCCCATCACTACC 0.597 NA 14 26 0 0 0 0 FAM160B2 64760 broad.mit.edu 37 8 21958395 21958395 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:21958395G>A uc011kyx.1 + 12 1579 c.1528G>A c.(1528-1530)GAT>AAT p.D510N FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 510 0 CAGCTTCCTGGATTCCGGCTT 0.572 NA 34 78 0 0 0 0 ADAM7 8756 broad.mit.edu 37 8 24326281 24326281 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:24326281G>A uc003xeb.2 + 7 694 c.581G>A c.(580-582)GGC>GAC p.G194D NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 194 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACTTTACAGGGCATCCATGAT 0.308 NA 3 41 0 0 0 0 IKBKB 3551 broad.mit.edu 37 8 42176820 42176820 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:42176820C>G uc003xow.1 + 14 1574 c.1397C>G c.(1396-1398)TCC>TGC p.S466C IKBKB_uc010lxh.1_Missense_Mutation_p.S361C|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.S243C|IKBKB_uc003xox.1_Missense_Mutation_p.S187C|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.S464C|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.S407C NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 466 Leucine-zipper. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGCTGCCTCTCCAAAATGAAG 0.473 NA OREG0018747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 93 0 0 0 0 PAG1 55824 broad.mit.edu 37 8 81897257 81897257 + Silent SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:81897257C>G uc003ybz.2 - 7 1341 c.630G>C c.(628-630)TCG>TCC p.S210S NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 210 Cytoplasmic (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GGAGCTCTTTCGAGGCAGAAG 0.488 NA 23 49 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103301699 103301699 + Silent SNP A A T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:103301699A>T uc003ykr.1 - 35 4728 c.4695T>A c.(4693-4695)GTT>GTA p.V1565V UBR5_uc003yks.1_Silent_p.V1565V NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1565 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CATCTGCTGAAACAATATCAT 0.403 NA 16 61 0 0 0 0 EIF3E 3646 broad.mit.edu 37 8 109254111 109254111 + Missense_Mutation SNP T T G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:109254111T>G uc003ymu.2 - 2 150 c.122A>C c.(121-123)AAA>ACA p.K41T EIF3E_uc003ymt.2_5'UTR|EIF3E_uc003ymv.2_Intron|EIF3E_uc010mci.1_Missense_Mutation_p.K41T|EIF3E_uc010mcj.1_Missense_Mutation_p.K41T NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 41 Sufficient for interaction with TRIM27.|Sufficient for interaction with EPAS1. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) AAGGTCCAATTTACCTTGTAA 0.284 NA 10 41 0 0 0 0 OPLAH 26873 broad.mit.edu 37 8 145107094 145107094 + Missense_Mutation SNP C C A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr8:145107094C>A uc003zar.3 - 24 3521 c.3439G>T c.(3439-3441)GAC>TAC p.D1147Y NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1147 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) ATCTCAGGGTCGGTGATGCGT 0.622 NA 6 6 3.6e-05 3.95e-05 1 0 ABCA2 20 broad.mit.edu 37 9 139907546 139907546 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr9:139907546G>C uc011mem.1 - 29 4920 c.4772C>G c.(4771-4773)CCC>CGC p.P1591R ABCA2_uc011mel.1_Missense_Mutation_p.P1592R|ABCA2_uc004ckl.1_Missense_Mutation_p.P1522R|ABCA2_uc004ckm.1_Missense_Mutation_p.P1622R|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1591 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGAGGGTGGGGGTGGCACGAA 0.677 NA 13 1 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63412439 63412439 + Missense_Mutation SNP G G A TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chrX:63412439G>A uc004dvo.2 - 2 1001 c.728C>T c.(727-729)CCA>CTA p.P243L NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 243 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 AGAAGGTTCTGGTGTTGGAGA 0.542 NA 47 30 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70338616 70338616 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chrX:70338616C>G uc004dyy.2 + 1 211 c.12C>G c.(10-12)TTC>TTG p.F4L MED12_uc011mpq.1_Missense_Mutation_p.F4L|MED12_uc004dyz.2_Missense_Mutation_p.F4L|MED12_uc004dza.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 4 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TGGCGGCCTTCGGGATCTTGA 0.672 NA 8 4 0 0 0 0 MID2 11043 broad.mit.edu 37 X 107084609 107084609 + Silent SNP A A G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chrX:107084609A>G uc004enl.2 + 2 1287 c.714A>G c.(712-714)AAA>AAG p.K238K MID2_uc004enk.2_Silent_p.K238K NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 238 Potential. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 GATTTGAGAAACTCAAGGTAA 0.433 NA 13 14 0 0 0 0 FRMD7 90167 broad.mit.edu 37 X 131212868 131212868 + Missense_Mutation SNP G G C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chrX:131212868G>C uc004ewn.2 - 12 1355 c.1177C>G c.(1177-1179)CTG>GTG p.L393V FRMD7_uc011muy.1_Missense_Mutation_p.L378V NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 393 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) GAatgctccagctcagttgca 0.284 NA 71 38 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62299831 62299831 + Frame_Shift_Del DEL C C - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr11:62299831delC uc001ntl.2 - 5 2358 c.2058delG c.(2056-2058)AAGfs p.K686fs AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 686 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TATCAGGCAGCTTAACATCGG 0.473 NA 18 78 --- --- --- --- NA NA NA NA METTL1 4234 broad.mit.edu 37 12 58162860 58162879 + Frame_Shift_Del DEL CTTCCCTCCATTACGTAGAA CTTCCCTCCATTACGTAGAA - rs140194153 byFrequency TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:58162860_58162879delCTTCCCTCCATTACGTAGAA uc010ssd.1 - 6 779_798 c.731_750delTTCTACGTAATGGAGGGAAG c.(730-750)GTTCTACGTAATGGAGGGAAGfs p.V244fs CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR NM_005371 NP_005362 Q9UBP6 TRMB_HUMAN methyltransferase-like protein 1 isoform a 244_250 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding 0 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) CTGGGAAATTCTTCCCTCCATTACGTAGAACTTTCTTCCC 0.527 NA 11 39 --- --- --- --- NA NA NA NA NOS1 4842 broad.mit.edu 37 12 117703229 117703230 + Frame_Shift_Ins INS - - C TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr12:117703229_117703230insC uc001twm.1 - 12 2713_2714 c.2027_2028insG c.(2026-2028)GGCfs p.G676fs NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 676 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CGGCAGGGCAGCCCCCCCGGCA 0.604 NA 10 9 --- --- --- --- NA NA NA NA UTP14C 9724 broad.mit.edu 37 13 52603224 52603229 + In_Frame_Del DEL CTTCAT CTTCAT - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr13:52603224_52603229delCTTCAT uc001vgb.2 + 2 819_824 c.284_289delCTTCAT c.(283-291)ACTTCATCT>ACT p.SS96del UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 96_97 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) CCCGTTAAAACTTCATCTTCTTTGGC 0.427 NA 9 112 --- --- --- --- NA NA NA NA SLC22A17 51310 broad.mit.edu 37 14 23821365 23821365 + Frame_Shift_Del DEL A A - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr14:23821365delA uc001wjl.2 - 1 115 c.59delT c.(58-60)TTCfs p.F20fs SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Frame_Shift_Del_p.F20fs|SLC22A17_uc010akl.1_Frame_Shift_Del_p.F20fs NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 isoform a 20 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity 0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) ATTAGGGGGGAAGGCCCCGTA 0.711 NA 2 4 --- --- --- --- NA NA NA NA DNAH3 55567 broad.mit.edu 37 16 21086866 21086878 + Frame_Shift_Del DEL CACCAATGGGCTC CACCAATGGGCTC - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:21086866_21086878delCACCAATGGGCTC uc010vbe.1 - 21 2974_2986 c.2974_2986delGAGCCCATTGGTG c.(2974-2988)GAGCCCATTGGTGCAfs p.E992fs NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 992_996 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTGGCAGCTGCACCAATGGGCTCCAATCTAAAG 0.399 NA 8 28 --- --- --- --- NA NA NA NA TERF2 7014 broad.mit.edu 37 16 69400835 69400843 + In_Frame_Del DEL GACCAATCT GACCAATCT - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr16:69400835_69400843delGACCAATCT uc002exd.2 - 7 1206_1214 c.1081_1089delAGATTGGTC c.(1081-1089)AGATTGGTCdel p.RLV361del NM_005652 NP_005643 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 361_363 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity lung(1) 1 Ovarian(137;0.101) CCTCCTCCAAGACCAATCTGCTTATTGTC 0.569 NA 11 27 --- --- --- --- NA NA NA NA HTR3D 200909 broad.mit.edu 37 3 183756319 183756329 + Frame_Shift_Del DEL CTGCTGCTGCA CTGCTGCTGCA - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr3:183756319_183756329delCTGCTGCTGCA uc011bqv.1 + 7 1042_1052 c.1042_1052delCTGCTGCTGCA c.(1042-1053)CTGCTGCTGCACfs p.L348fs HTR3D_uc003fmj.2_Frame_Shift_Del_p.L173fs|HTR3D_uc011bqu.1_Frame_Shift_Del_p.L298fs|HTR3D_uc010hxp.2_Frame_Shift_Del_p.L127fs NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 348_351 Cytoplasmic (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCTCCACTCCCTGCTGCTGCACTGCACCGGC 0.649 NA 14 98 --- --- --- --- NA NA NA NA EHHADH 1962 broad.mit.edu 37 3 184910480 184910493 + Frame_Shift_Del DEL CCTAATTCACAGAG CCTAATTCACAGAG - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr3:184910480_184910493delCCTAATTCACAGAG uc003fpf.2 - 7 1720_1733 c.1693_1706delCTCTGTGAATTAGG c.(1693-1707)CTCTGTGAATTAGGAfs p.L565fs EHHADH_uc011brs.1_Frame_Shift_Del_p.L469fs NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 565_569 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GCCAAATCGTCCTAATTCACAGAGCACATCAGGA 0.472 NA 9 104 --- --- --- --- NA NA NA NA FBXL7 23194 broad.mit.edu 37 5 15937151 15937151 + Frame_Shift_Del DEL G G - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr5:15937151delG uc003jfn.1 + 4 1813 c.1332delG c.(1330-1332)CAGfs p.Q444fs NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 444 LRR 11. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TCACCGGCCAGGGCTTGCAGA 0.612 NA 20 32 --- --- --- --- NA NA NA NA RAB32 10981 broad.mit.edu 37 6 146865145 146865145 + Frame_Shift_Del DEL C C - TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr6:146865145delC uc003qln.1 + 1 318 c.138delC c.(136-138)GTCfs p.V46fs NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 46 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) AGCGCTACGTCCACCAGCTCT 0.562 NA 17 28 --- --- --- --- NA NA NA NA ZNF735 730291 broad.mit.edu 37 7 63667602 63667603 + Frame_Shift_Ins INS - - T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6166f0d-c0b5-44a3-814d-0c94c5bc41b0 393a336d-6a29-4e53-9285-3af63623db50 g.chr7:63667602_63667603insT uc011kdn.1 + 1 22_23 c.22_23insT c.(22-24)CCTfs p.P8fs NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACCGGGACCCCCTGGAAGCCGA 0.564 NA 23 44 --- --- --- --- NA NA NA NA