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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut SDF4 51150 broad.mit.edu 37 1 1159282 1159282 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:1159282C>A uc001adh.3 - 3 722 c.393G>T c.(391-393)ACG>ACT p.T131T SDF4_uc001adg.2_5'Flank|SDF4_uc001adi.3_Silent_p.T131T|SDF4_uc009vjv.2_Silent_p.T9T|SDF4_uc009vjw.2_RNA|SDF4_uc001adj.1_Silent_p.T9T NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 131 EF-hand 1. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AGTGCTCGGCCGTCTTCTCCA 0.632 NA 11 19 6.40141e-05 7.00937e-05 0.010729 1 0 CHD5 26038 broad.mit.edu 37 1 6194240 6194240 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:6194240T>A uc001amb.1 - 20 3192 c.3092A>T c.(3091-3093)AAG>ATG p.K1031M CHD5_uc001alz.1_5'Flank|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1031 Helicase C-terminal. 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) CTTCAGCATCTTCTGTAGCAG 0.622 NA 23 47 0 0 0.014323 0 0 CROCC 9696 broad.mit.edu 37 1 17280755 17280755 + Nonsense_Mutation SNP C C G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:17280755C>G uc001azt.2 + 22 3293 c.3224C>G c.(3223-3225)TCA>TGA p.S1075* CROCC_uc009voz.1_Nonsense_Mutation_p.S674*|CROCC_uc001azu.2_Nonsense_Mutation_p.S378* NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1075 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACGGCGCTGTCAGAGAAGTTG 0.632 NA 13 97 0 0 0.00499 0 0 EPS15 2060 broad.mit.edu 37 1 51829698 51829698 + Silent SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:51829698G>C uc001csq.1 - 23 2291 c.2199C>G c.(2197-2199)GTC>GTG p.V733V EPS15_uc009vyz.1_Silent_p.V599V|EPS15_uc001csp.3_Silent_p.V419V NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 733 15 X 3 AA repeats of D-P-F. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 CTTCATTGTTGACCTTTGTTT 0.343 NA T MLL ALL 3 40 0 0 0.004672 0 0 SGIP1 84251 broad.mit.edu 37 1 67147734 67147734 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:67147734G>T uc001dcr.2 + 15 1214 c.997G>T c.(997-999)GTG>TTG p.V333L SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.V100L NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 333 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AAGGGAAAAAGTGGTGTCCCC 0.592 NA 48 108 7.88023e-25 1.24558e-24 0.01441 1 0 DPYD 1806 broad.mit.edu 37 1 97839179 97839179 + Nonsense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:97839179C>A uc001drv.2 - 16 2133 c.1996G>T c.(1996-1998)GAG>TAG p.E666* NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 666 Uracil binding (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAATTTAACTCCAGGGCATCT 0.428 NA 10 33 1.08611e-07 1.27471e-07 0.010729 1 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999135 112999135 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:112999135C>A uc001ebx.2 + 6 1249 c.1021C>A c.(1021-1023)CCT>ACT p.P341T CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 341 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTGCCACTCCTGCTTACTC 0.488 NA 32 89 6.70999e-13 9.32736e-13 0.019004 1 0 CSDE1 7812 broad.mit.edu 37 1 115273024 115273024 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:115273024C>A uc001efk.2 - 12 1677 c.1211G>T c.(1210-1212)AGA>ATA p.R404I CSDE1_uc001efi.2_Missense_Mutation_p.R450I|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.R373I|CSDE1_uc001efm.2_Missense_Mutation_p.R419I|CSDE1_uc009wgv.2_Missense_Mutation_p.R404I|CSDE1_uc001efn.2_Missense_Mutation_p.R373I NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 404 CSD 5. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCATGATTTCTTTGAGCAGA 0.363 NA 12 40 0.000978159 0.00104765 0.010729 1 0 TCHHL1 126637 broad.mit.edu 37 1 152059800 152059800 + Nonsense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:152059800G>A uc001ezo.1 - 3 423 c.358C>T c.(358-360)CAG>TAG p.Q120* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 120 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACTGTCCACTGACCATCTCCG 0.453 NA 18 107 0 0 0.006122 0 0 SMG5 23381 broad.mit.edu 37 1 156222815 156222815 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:156222815T>A uc001foc.3 - 18 2706 c.2557A>T c.(2557-2559)ATG>TTG p.M853L SMG5_uc009wrv.2_Missense_Mutation_p.M338L NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 853 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TAGGGAGACATGGCTGACTGG 0.632 NA 6 13 0 0 0.00308 0 0 VHLL 391104 broad.mit.edu 37 1 156268936 156268936 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:156268936C>A uc001fok.2 - 1 493 c.45G>T c.(43-45)GCG>GCT p.A15A NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 15 protein ubiquitination nucleus ovary(1) 1 Hepatocellular(266;0.158) CCTGGGTGCCCGCCTGGGCCT 0.617 NA 15 102 4.14922e-12 5.68704e-12 0.004007 1 0 FCRL5 83416 broad.mit.edu 37 1 157514257 157514257 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:157514257G>T uc001fqu.2 - 5 797 c.639C>A c.(637-639)ACC>ACA p.T213T FCRL5_uc009wsm.2_Silent_p.T213T|FCRL5_uc010phv.1_Silent_p.T213T|FCRL5_uc010phw.1_Silent_p.T128T|FCRL5_uc001fqv.1_Silent_p.T213T|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 213 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAGAGAGCTGGGTCTCACAGG 0.557 NA 30 109 3.1745e-13 4.50871e-13 0.008361 1 0 OR10J3 441911 broad.mit.edu 37 1 159284274 159284274 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:159284274G>C uc010piu.1 - 1 176 c.176C>G c.(175-177)CCC>CGC p.P59R NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GAAGTACATGGGGGTGTGAAG 0.468 NA 54 57 0 0 0.01441 0 0 ADCY10 55811 broad.mit.edu 37 1 167798572 167798572 + Missense_Mutation SNP T T C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:167798572T>C uc001ger.2 - 26 3981 c.3683A>G c.(3682-3684)AAG>AGG p.K1228R ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.K1136R|ADCY10_uc010plj.1_Missense_Mutation_p.K1075R NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1228 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 GGCATAATACTTGCAGTGAAA 0.423 NA 20 67 0 0 0.007413 0 0 XCL2 6846 broad.mit.edu 37 1 168510283 168510283 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:168510283C>A uc001gfn.3 - 3 285 c.252G>T c.(250-252)ATG>ATT p.M84I NM_003175 NP_003166 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 precursor 84 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity ovary(1) 1 all_hematologic(923;0.215) ATTTCCTGTCCATGCTCCTGA 0.488 NA 25 27 7.26314e-15 1.06237e-14 0.007291 1 0 CACNA1E 777 broad.mit.edu 37 1 181706779 181706779 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:181706779G>C uc001gow.2 + 23 3706 c.3541G>C c.(3541-3543)GAG>CAG p.E1181Q CACNA1E_uc009wxs.2_Missense_Mutation_p.E1069Q|CACNA1E_uc001gox.1_Missense_Mutation_p.E407Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.E407Q NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1181 Extracellular (Potential).|III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GACCAACTCGGAGCGCAACAA 0.597 NA 45 65 0 0 0.013114 0 0 IARS2 55699 broad.mit.edu 37 1 220307776 220307776 + Nonsense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:220307776G>T uc001hmc.2 + 15 1974 c.1870G>T c.(1870-1872)GGA>TGA p.G624* IARS2_uc001hmd.2_5'Flank NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 624 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GTACTTGGAAGGAAAAGACCA 0.333 NA 27 29 7.38237e-10 9.15787e-10 0.00632 1 0 TP53BP2 7159 broad.mit.edu 37 1 223990466 223990466 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:223990466C>T uc010pvb.1 - 8 1255 c.963G>A c.(961-963)AAG>AAA p.K321K TP53BP2_uc001hod.2_Silent_p.K192K|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'Flank NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 315 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GAGCTGCCTTCTTCTTCCACA 0.468 NA 42 274 0 0 0.01441 0 0 URB2 9816 broad.mit.edu 37 1 229781606 229781606 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:229781606G>T uc001hts.1 + 6 3932 c.3796G>T c.(3796-3798)GCT>TCT p.A1266S URB2_uc009xfd.1_Missense_Mutation_p.A1266S NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1266 nucleolus central_nervous_system(2)|ovary(1) 3 CTTGCCCCAGGCTGTTGTGTC 0.547 NA 91 111 1.55023e-36 2.55332e-36 0.01441 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232650286 232650286 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:232650286G>A uc001hvg.2 - 1 958 c.800C>T c.(799-801)GCC>GTC p.A267V NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 267 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CATCAGGAGGGCACTGTCCAC 0.493 NA 33 50 0 0 0.019004 0 0 ZP4 57829 broad.mit.edu 37 1 238048740 238048740 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:238048740G>T uc001hym.2 - 8 1111 c.1111C>A c.(1111-1113)CCC>ACC p.P371T LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 371 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCAGTGCTGGGTGTTGCCCAA 0.537 NSCLC(166;160 2029 11600 18754 19936) NA 42 31 9.9998e-32 1.60652e-31 0.011902 1 0 KIF26B 55083 broad.mit.edu 37 1 245861603 245861603 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:245861603C>T uc001ibf.1 + 13 6460 c.6020C>T c.(6019-6021)GCC>GTC p.A2007V NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 2007 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGAGGGGGTGCCAGCAAGGTG 0.642 NA 14 14 0 0 0.003163 0 0 OR2T12 127064 broad.mit.edu 37 1 248458842 248458842 + Silent SNP T T C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:248458842T>C uc010pzj.1 - 1 39 c.39A>G c.(37-39)CTA>CTG p.L13L NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TAAAGAGTCCTAGGAGAATAA 0.448 NA 4 125 0 0 0.014758 0 0 OR2T4 127074 broad.mit.edu 37 1 248525370 248525370 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:248525370G>A uc001ieh.1 + 1 488 c.488G>A c.(487-489)CGT>CAT p.R163H NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 163 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATCCTCTCCGTTACCCTGTC 0.527 NA 116 154 0 0 0.01441 0 0 OR2G6 391211 broad.mit.edu 37 1 248684959 248684959 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr1:248684959C>A uc001ien.1 + 1 12 c.12C>A c.(10-12)ACC>ACA p.T4T NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGAGGAAACCAACAACAGCT 0.398 NA 14 109 4.36969e-10 5.52554e-10 0.016723 1 0 SPAG6 9576 broad.mit.edu 37 10 22680767 22680767 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:22680767G>T uc001iri.2 + 8 1257 c.1115G>T c.(1114-1116)CGG>CTG p.R372L SPAG6_uc001irj.2_Missense_Mutation_p.R372L|SPAG6_uc010qct.1_Missense_Mutation_p.R342L|SPAG6_uc009xkh.2_Missense_Mutation_p.R350L NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 372 ARM 8. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 GAACACGCACGGGCTGTTGCA 0.448 NA 15 18 6.31663e-08 7.50339e-08 0.003163 1 0 ARHGAP12 94134 broad.mit.edu 37 10 32098161 32098161 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:32098161G>A uc001ivz.1 - 17 2395 c.2125C>T c.(2125-2127)CAT>TAT p.H709Y ARHGAP12_uc001ivy.1_Missense_Mutation_p.H655Y|ARHGAP12_uc009xls.2_Missense_Mutation_p.H660Y|ARHGAP12_uc001iwb.1_Missense_Mutation_p.H702Y|ARHGAP12_uc001iwc.1_Missense_Mutation_p.H677Y|ARHGAP12_uc009xlq.1_Missense_Mutation_p.H630Y|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 709 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) ATCTTACCATGATTGACTGCA 0.333 NA 12 40 0 0 0.010729 0 0 OR13A1 79290 broad.mit.edu 37 10 45799763 45799763 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:45799763C>A uc001jcc.1 - 4 417 c.108G>T c.(106-108)TCG>TCT p.S36S OR13A1_uc001jcd.1_Silent_p.S32S NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 36 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGGGTGCTCCGAAAAGCCCT 0.527 NA 23 15 3.10358e-05 3.43673e-05 0.014323 1 0 SYT15 83849 broad.mit.edu 37 10 46968638 46968638 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:46968638G>C uc001jea.2 - 3 451 c.298C>G c.(298-300)CCA>GCA p.P100A SYT15_uc001jdz.2_Missense_Mutation_p.P100A|SYT15_uc001jeb.2_5'UTR|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 100 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 GGGTCCCATGGGGCATCGGCC 0.667 Ovarian(57;1152 1428 19651 37745) NA 12 12 0 0 0.013537 0 0 LDB3 11155 broad.mit.edu 37 10 88476273 88476273 + Nonsense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:88476273C>A uc001kdv.2 + 9 1444 c.1421C>A c.(1420-1422)TCG>TAG p.S474* LDB3_uc010qml.1_Nonsense_Mutation_p.S411*|LDB3_uc010qmm.1_Nonsense_Mutation_p.S479*|LDB3_uc001kdu.2_Nonsense_Mutation_p.S364*|LDB3_uc009xsz.2_Nonsense_Mutation_p.S103*|LDB3_uc009xta.1_5'Flank NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 474 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 CCTGCACCCTCGGTGGCCTAC 0.383 NA 46 25 2.24722e-20 3.49568e-20 0.01441 1 0 TLL2 7093 broad.mit.edu 37 10 98129870 98129870 + Silent SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:98129870G>A uc001kml.1 - 20 3091 c.2865C>T c.(2863-2865)GAC>GAT p.D955D NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 955 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGTCGTAGCCGTCGTAGGCTT 0.587 NA 21 16 0 0 0.008871 0 0 C10orf137 26098 broad.mit.edu 37 10 127426555 127426555 + Silent SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr10:127426555A>T uc001liq.1 + 14 2120 c.1827A>T c.(1825-1827)CTA>CTT p.L609L C10orf137_uc001lin.2_Silent_p.L575L|C10orf137_uc001lio.1_Silent_p.L575L|C10orf137_uc001lip.1_Silent_p.L313L|C10orf137_uc001lir.2_Silent_p.L103L|C10orf137_uc001lis.1_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCTATGTTCTAGAGGTAAGTT 0.338 NA 37 32 0 0 0.006999 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718520 1718520 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:1718520G>T uc001lua.2 + 1 96 c.45G>T c.(43-45)GGG>GGT p.G15G NM_001012416 NP_001012416 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 15 keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCGGCTGTGGGGGCTGTGGCT 0.652 NA 33 120 6.50621e-10 8.1224e-10 0.013726 1 0 CCDC73 493860 broad.mit.edu 37 11 32674751 32674751 + Missense_Mutation SNP T T C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:32674751T>C uc001mtv.2 - 12 901 c.857A>G c.(856-858)CAT>CGT p.H286R CCDC73_uc001mtw.1_Intron NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 286 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) CTGCTGCATATGTTGGAAAGA 0.279 NA 29 42 0 0 0.007291 0 0 MADD 8567 broad.mit.edu 37 11 47345883 47345883 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:47345883A>T uc001ner.1 + 32 4801 c.4610A>T c.(4609-4611)AAA>ATA p.K1537I MADD_uc001neq.2_Missense_Mutation_p.K1478I|MADD_uc001nev.1_Missense_Mutation_p.K1435I|MADD_uc001nes.1_Missense_Mutation_p.K1455I|MADD_uc001net.1_Missense_Mutation_p.K1498I|MADD_uc009yln.1_Missense_Mutation_p.K1431I|MADD_uc001neu.1_Missense_Mutation_p.K1435I|MADD_uc001nex.2_Missense_Mutation_p.K1537I|MADD_uc001nez.2_Missense_Mutation_p.K1434I|MADD_uc001new.2_Missense_Mutation_p.K1477I|MADD_uc009ylo.2_Missense_Mutation_p.K451I NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1537 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CAAAGCATCAAACCCGGTGAG 0.582 NA 4 22 0 0 0.009096 0 0 MYBPC3 4607 broad.mit.edu 37 11 47374196 47374196 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:47374196C>T uc001nfa.3 - 1 58 c.3G>A c.(1-3)ATG>ATA p.M1I SLC39A13_uc001nfd.2_5'Flank NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CCGGCTCAGGCATCCTGAGAG 0.602 NA 20 34 0 0 0.012319 0 0 OR4C13 283092 broad.mit.edu 37 11 49974040 49974040 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:49974040G>T uc010rhz.1 + 1 66 c.66G>T c.(64-66)CAG>CAT p.Q22H NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CAAAAATGCAGAAAATCATAT 0.383 NA 22 111 3.83957e-06 4.35003e-06 0.016522 1 0 OR4C11 219429 broad.mit.edu 37 11 55371129 55371129 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:55371129G>A uc010rii.1 - 1 721 c.721C>T c.(721-723)CAC>TAC p.H241Y NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACAATTATGTGAGACGTGCAA 0.403 NA 36 38 0 0 0.007835 0 0 OR4S2 219431 broad.mit.edu 37 11 55418437 55418437 + Nonsense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:55418437G>T uc001nhs.1 + 1 58 c.58G>T c.(58-60)GAG>TAG p.E20* NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TCAGAGCCCAGAGATTGAGAA 0.373 NA 29 50 7.01153e-11 9.22323e-11 0.007291 1 0 OR8J1 219477 broad.mit.edu 37 11 56127726 56127726 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:56127726G>A uc010rjh.1 + 1 4 c.4G>A c.(4-6)GCT>ACT p.A2T NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CTCTGACATGGCTCCTGAAAA 0.428 NA 26 27 0 0 0.004656 0 0 MAP3K11 4296 broad.mit.edu 37 11 65375749 65375749 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:65375749C>T uc001oew.2 - 2 1403 c.910G>A c.(910-912)GAC>AAC p.D304N MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.D47N|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 304 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 CTCCAGACGTCACTGCCCTTA 0.637 NA 7 31 0 0 0.001984 0 0 XRRA1 143570 broad.mit.edu 37 11 74617397 74617397 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:74617397C>A uc009yub.2 - 10 1198 c.866G>T c.(865-867)AGT>ATT p.S289I XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_5'UTR|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.S289I|XRRA1_uc001ovp.3_Missense_Mutation_p.S56I|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_Missense_Mutation_p.S56I NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 289 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 TTTATGGGGACTTCCCCTGCC 0.463 NA 11 45 0.00829132 0.00855315 0.008291 1 0 FAT3 120114 broad.mit.edu 37 11 92086077 92086077 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:92086077C>A uc001pdj.3 + 1 816 c.799C>A c.(799-801)CAT>AAT p.H267N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 267 Cadherin 3.|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) CCCAACAATCCATGTAGTCAC 0.443 NA TCGA Ovarian(4;0.039) 43 68 1.76056e-25 2.80544e-25 0.011902 1 0 MMP3 4314 broad.mit.edu 37 11 102709964 102709964 + Missense_Mutation SNP G G A rs147533686 by1000genomes TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:102709964G>A uc001phj.1 - 7 1011 c.946C>T c.(946-948)CGC>TGC p.R316C NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 316 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R316C(1) lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AGGGATTTGCGCCAAAAGTGC 0.403 NA 28 32 0 0 0.009535 0 0 POU2AF1 5450 broad.mit.edu 37 11 111225164 111225164 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr11:111225164G>T uc001plg.3 - 5 848 c.593C>A c.(592-594)CCA>CAA p.P198Q NM_006235 NP_006226 Q16633 OBF1_HUMAN POU class 2 associating factor 1 198 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity kidney(1) 1 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) AGGTAGGGCTGGGGCCGGAGG 0.642 NA T BCL6 NHL 14 37 4.3838e-07 5.08417e-07 0.016723 1 0 NDUFA9 4704 broad.mit.edu 37 12 4768321 4768321 + Missense_Mutation SNP C C G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:4768321C>G uc001qnc.2 + 5 540 c.530C>G c.(529-531)TCT>TGT p.S177C NDUFA9_uc009zei.1_Missense_Mutation_p.S177C|NDUFA9_uc010ses.1_5'UTR NM_005002 NP_004993 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 177 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) ATTAAAAGCTCTTCTAGATAT 0.373 Colon(75;996 1244 23946 25294 29232) NA 9 35 0 0 0.006214 0 0 CCDC91 55297 broad.mit.edu 37 12 28702079 28702079 + Silent SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:28702079A>T uc001riq.2 + 12 1315 c.1299A>T c.(1297-1299)ATA>ATT p.I433I CCDC91_uc001rio.2_Silent_p.I403I|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rir.2_Silent_p.I271I|CCDC91_uc009zjl.2_Silent_p.I235I NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN GGA binding partner 433 protein transport Golgi apparatus|membrane central_nervous_system(1) 1 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GTGCTTTAATAGCTACGGAAC 0.373 NA 54 31 0 0 0.01441 0 0 CYP27B1 1594 broad.mit.edu 37 12 58158993 58158993 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:58158993G>T uc001spz.1 - 4 743 c.591C>A c.(589-591)GGC>GGA p.G197G CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Missense_Mutation_p.H78N|CYP27B1_uc001sqc.1_Missense_Mutation_p.H78N NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 197 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCGCGGCGATGCCTTGTCGGG 0.687 NA OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 5.9392e-07 6.8075e-07 0.001168 1 0 E2F7 144455 broad.mit.edu 37 12 77438543 77438543 + Nonsense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:77438543T>A uc001sym.3 - 6 1098 c.862A>T c.(862-864)AGA>TGA p.R288* NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 288 Potential. cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CTCATAATTCTCAGAGACTTG 0.388 NA 37 21 0 0 0.007835 0 0 Unknown 0 broad.mit.edu 37 12 80762088 80762088 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:80762088C>T uc009zsg.1 + 9 828 c.227C>T c.(226-228)GCG>GTG p.A76V uc001szd.2_Missense_Mutation_p.A215V RecName: Full=Uncharacterized protein C12orf64; NA GTTGTATACGCGGTATGTTTC 0.428 NA 4 5 0 0 0.009096 0 0 UTP20 27340 broad.mit.edu 37 12 101757487 101757487 + Missense_Mutation SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:101757487A>G uc001tia.1 + 45 6080 c.5924A>G c.(5923-5925)GAT>GGT p.D1975G NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1975 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GTAGGAAAAGATCAGGTTACA 0.398 NA 20 21 0 0 0.014323 0 0 PRKAB1 5564 broad.mit.edu 37 12 120106160 120106160 + Silent SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr12:120106160G>A uc009zwu.2 + 2 214 c.111G>A c.(109-111)CTG>CTA p.L37L PRKAB1_uc001txg.2_Silent_p.L37L NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 37 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) CCAAGATCCTGATGGACAGCC 0.647 NA 3 13 0 0 0.004672 0 0 FLT3 2322 broad.mit.edu 37 13 28602427 28602427 + Splice_Site SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr13:28602427T>A uc001urw.2 - 16 2025 c.1943_splice c.e16-1 p.E648_splice FLT3_uc010aao.2_Splice_Site|FLT3_uc010tdn.1_Splice_Site_p.E648_splice NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTGCTTTTTCTGTCAAAGAAA 0.383 NA Mis|O AML|ALL 6 13 0 0 0.001168 0 0 MLNR 2862 broad.mit.edu 37 13 49794774 49794774 + Missense_Mutation SNP T T C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr13:49794774T>C uc010tgj.1 + 1 301 c.301T>C c.(301-303)TCG>CCG p.S101P NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 101 Extracellular (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) CCTCTGGCGCTCGCGGCCCTG 0.682 NA 7 2 0 0 0.001984 0 0 LMO7 4008 broad.mit.edu 37 13 76397902 76397902 + Nonsense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr13:76397902C>T uc001vjv.2 + 12 2903 c.2143C>T c.(2143-2145)CAG>TAG p.Q715* LMO7_uc010thv.1_Nonsense_Mutation_p.Q666*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q614*|LMO7_uc010thw.1_Nonsense_Mutation_p.Q565*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q621* NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1000 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTCCCAAGACCAGGCTGCCAC 0.478 NA 8 24 0 0 0.004482 0 0 SOS2 6655 broad.mit.edu 37 14 50667801 50667801 + Missense_Mutation SNP T T C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr14:50667801T>C uc001wxs.3 - 3 313 c.215A>G c.(214-216)GAG>GGG p.E72G SOS2_uc010tql.1_Missense_Mutation_p.E72G NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 72 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) CTGAACTCGCTCCTGCTCAAT 0.358 NA 16 42 0 0 0.003163 0 0 SLC10A1 6554 broad.mit.edu 37 14 70245197 70245197 + Missense_Mutation SNP A A C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr14:70245197A>C uc001xlr.2 - 4 930 c.796T>G c.(796-798)TGT>GGT p.C266G NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 266 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) ATGGTGGAACAGAGTTGGACA 0.512 NA 13 43 0 0 0.013537 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91356980 91356980 + Missense_Mutation SNP T T C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr14:91356980T>C uc001xys.2 - 14 1902 c.1687A>G c.(1687-1689)ATA>GTA p.I563V RPS6KA5_uc010twi.1_Missense_Mutation_p.I484V NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 563 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) AAATCAATTATTTTAATTTCC 0.408 NA 20 23 0 0 0.012319 0 0 TECPR2 9895 broad.mit.edu 37 14 102906821 102906821 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr14:102906821G>T uc001ylw.1 + 11 2775 c.2627G>T c.(2626-2628)TGT>TTT p.C876F TECPR2_uc010awl.2_Missense_Mutation_p.C876F|TECPR2_uc010txx.1_Missense_Mutation_p.C39F NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 876 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 GCTTTTGCTTGTGGGAAAGTC 0.478 NA 19 69 1.15919e-05 1.29829e-05 0.008871 1 0 AHNAK2 113146 broad.mit.edu 37 14 105408258 105408258 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr14:105408258G>T uc010axc.1 - 7 13650 c.13530C>A c.(13528-13530)GAC>GAA p.D4510E AHNAK2_uc001ypx.2_Missense_Mutation_p.D4410E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4510 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAATGCGGAGGTCAGTGGTCT 0.622 NA 35 84 4.11147e-13 5.79747e-13 0.017118 1 0 PLCB2 5330 broad.mit.edu 37 15 40581051 40581051 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr15:40581051C>T uc001zld.2 - 32 3724 c.3423G>A c.(3421-3423)TCG>TCA p.S1141S PLCB2_uc001zlc.2_Silent_p.S125S|PLCB2_uc010bbo.2_Silent_p.S1137S|PLCB2_uc010ucm.1_Silent_p.S1126S NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1141 Potential. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGCCCTCACCGACTCCTTCA 0.642 NA 7 38 0 0 0.00308 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44789291 44789291 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr15:44789291G>T uc001ztr.2 + 7 1253 c.837G>T c.(835-837)CCG>CCT p.P279P CTDSPL2_uc001zts.2_Silent_p.P279P|CTDSPL2_uc001ztt.2_Silent_p.P279P|CTDSPL2_uc010bdv.2_Silent_p.P207P NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 279 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) CTGCTCTTCCGTTGAAAACAA 0.343 NA 21 20 1.96895e-08 2.38218e-08 0.016522 1 0 IGF1R 3480 broad.mit.edu 37 15 99465655 99465655 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr15:99465655C>A uc002bul.2 + 11 2530 c.2480C>A c.(2479-2481)CCC>CAC p.P827H IGF1R_uc010urq.1_Missense_Mutation_p.P827H|IGF1R_uc010bon.2_Missense_Mutation_p.P827H|IGF1R_uc010boo.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 827 Extracellular (Potential). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AGGACTATGCCCGCAGGTATG 0.552 NA 26 22 4.22769e-11 5.59884e-11 0.00632 1 0 CACNA1H 8912 broad.mit.edu 37 16 1261168 1261168 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:1261168G>T uc002cks.2 + 22 4472 c.4224G>T c.(4222-4224)AGG>AGT p.R1408S CACNA1H_uc002ckt.2_Missense_Mutation_p.R1408S|CACNA1H_uc002cku.2_Missense_Mutation_p.R114S|CACNA1H_uc010brj.2_Missense_Mutation_p.R114S|CACNA1H_uc002ckv.2_Missense_Mutation_p.R114S NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1408 III.|Helical; Name=S4 of repeat III; (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCCCCTCCAGGGTCATCAGCC 0.627 NA 16 38 0.00152264 0.00161318 0.010504 1 0 OR1F1 4992 broad.mit.edu 37 16 3255025 3255025 + Missense_Mutation SNP T T G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:3255025T>G uc010uwu.1 + 1 779 c.779T>G c.(778-780)TTT>TGT p.F260C NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTGTGTATTTTAACCCTCTG 0.493 NA 65 111 0 0 0.01441 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916122 9916122 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:9916122C>A uc002czo.3 - 10 2715 c.2167G>T c.(2167-2169)GGG>TGG p.G723W GRIN2A_uc010uym.1_Missense_Mutation_p.G723W|GRIN2A_uc010uyn.1_Missense_Mutation_p.G566W|GRIN2A_uc002czr.3_Missense_Mutation_p.G723W NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 723 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CATCCTTACCCCGTTTTCAGG 0.463 NA 49 61 1.95508e-11 2.62462e-11 0.01441 1 0 EEF2K 29904 broad.mit.edu 37 16 22237269 22237269 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:22237269G>T uc002dki.2 + 2 704 c.219G>T c.(217-219)GGG>GGT p.G73G EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 73 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) GCTCCAGCGGGTCCCCGGCAA 0.532 NSCLC(195;1411 2157 20319 27471 51856) NA 20 36 1.64113e-05 1.82763e-05 0.010504 1 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258612 25258612 + Missense_Mutation SNP C C A rs138595438 by1000genomes TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:25258612C>A uc002dod.3 - 5 1312 c.905G>T c.(904-906)CGA>CTA p.R302L ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R98L|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R302L NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 302 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) GTAGTTGCTTCGTAGGATACT 0.468 NA 48 56 4.21674e-32 6.83042e-32 0.01441 1 0 SHCBP1 79801 broad.mit.edu 37 16 46633812 46633812 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:46633812A>T uc002eec.3 - 9 1316 c.1276T>A c.(1276-1278)TGC>AGC p.C426S NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 426 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) GCACCAGTGCAGTCCACAAAA 0.408 NA 14 30 0 0 0.020292 0 0 MYLK3 91807 broad.mit.edu 37 16 46781866 46781866 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:46781866C>A uc002eei.3 - 1 356 c.240G>T c.(238-240)GGG>GGT p.G80G MYLK3_uc010vge.1_Intron NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 80 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGTGGGGAACCCCATCAGCCC 0.711 NA 7 23 0.00198382 0.0020793 0.001984 1 0 SALL1 6299 broad.mit.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:51173150G>A uc010vgs.1 - 2 3014 c.2983C>T c.(2983-2985)CGG>TGG p.R995W SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 995 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AATTTACCCCGGTCTCTAAAA 0.433 GBM(103;1352 1446 1855 4775 8890) NA 9 47 0 0 0.004482 0 0 SALL1 6299 broad.mit.edu 37 16 51174200 51174200 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:51174200G>A uc010vgs.1 - 2 1964 c.1933C>T c.(1933-1935)CCA>TCA p.P645S SALL1_uc010vgr.1_Missense_Mutation_p.P548S|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 645 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTGCCGCTGGGGAGCTCAGG 0.627 GBM(103;1352 1446 1855 4775 8890) NA 10 44 0 0 0.008291 0 0 SALL1 6299 broad.mit.edu 37 16 51175394 51175394 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:51175394T>A uc010vgs.1 - 2 770 c.739A>T c.(739-741)ATC>TTC p.I247F SALL1_uc010vgr.1_Missense_Mutation_p.I150F|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 247 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATCTGTTCGATCAATTGCAGC 0.537 GBM(103;1352 1446 1855 4775 8890) NA 11 71 0 0 0.020292 0 0 CHD9 80205 broad.mit.edu 37 16 53272307 53272307 + Missense_Mutation SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:53272307A>G uc002ehb.2 + 11 2850 c.2686A>G c.(2686-2688)ATT>GTT p.I896V CHD9_uc002egy.2_Missense_Mutation_p.I896V|CHD9_uc002eha.1_Missense_Mutation_p.I896V|CHD9_uc002ehc.2_Missense_Mutation_p.I896V|CHD9_uc002ehf.2_Missense_Mutation_p.I10V|CHD9_uc002ehd.2_Missense_Mutation_p.I422V|CHD9_uc002ehe.1_Missense_Mutation_p.I10V NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 896 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TATTCAATCAATTACATTCCT 0.358 NA 17 58 0 0 0.00499 0 0 RLTPR 146206 broad.mit.edu 37 16 67686373 67686373 + Splice_Site SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:67686373A>G uc002etn.2 + 28 2938 c.2818_splice c.e28-2 p.D940_splice RLTPR_uc010cel.1_Splice_Site_p.D933_splice|RLTPR_uc010vjr.1_Splice_Site_p.D904_splice|RLTPR_uc010vjs.1_5'Flank NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCTCCCCACCAGGATGACAGT 0.572 NA 8 4 0 0 0.00308 0 0 CYB5B 80777 broad.mit.edu 37 16 69458735 69458735 + Missense_Mutation SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:69458735A>G uc002exg.1 + 1 238 c.149A>G c.(148-150)TAC>TGC p.Y50C CYB5B_uc002exf.2_Missense_Mutation_p.Y50C|CYB5B_uc010cfl.1_Missense_Mutation_p.Y50C NM_030579 NP_085056 O43169 CYB5B_HUMAN cytochrome b5 outer mitochondrial membrane 46 Cytochrome b5 heme-binding. electron transport chain|transport integral to membrane|mitochondrial outer membrane heme binding 0 Ovarian(137;0.101) GGGCGAGTCTACGATGTCACC 0.597 NA 12 15 0 0 0.020292 0 0 CDH13 1012 broad.mit.edu 37 16 83520147 83520147 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:83520147C>T uc002fgx.2 + 7 967 c.847C>T c.(847-849)CGG>TGG p.R283W CDH13_uc010vns.1_Missense_Mutation_p.R330W|CDH13_uc010vnt.1_Missense_Mutation_p.R29W|CDH13_uc010vnu.1_Missense_Mutation_p.R244W NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 283 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGCCCTCCTGCGGTATAATAT 0.527 NA 13 51 0 0 0.003163 0 0 Unknown 0 broad.mit.edu 37 16 88620260 88620260 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr16:88620260T>A uc010vox.1 - 2 370 c.370A>T c.(370-372)ACA>TCA p.T124S RecName: Full=Putative uncharacterized protein C16orf85; NA TCCACTGCTGTTTTGTGGGAT 0.552 NA 9 34 0 0 0.008291 0 0 TP53 7157 broad.mit.edu 37 17 7577535 7577535 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:7577535C>A uc002gim.2 - 7 940 c.746G>T c.(745-747)AGG>ATG p.R249M TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(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) GAGGATGGGCCTCCGGTTCAT 0.567 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 11 9 6.40141e-05 7.00937e-05 0.010729 1 0 TP53 7157 broad.mit.edu 37 17 7578264 7578264 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:7578264G>C uc002gim.2 - 6 779 c.585C>G c.(583-585)ATC>ATG p.I195M TP53_uc002gig.1_Missense_Mutation_p.I195M|TP53_uc002gih.2_Missense_Mutation_p.I195M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63M|TP53_uc010cng.1_Missense_Mutation_p.I63M|TP53_uc002gii.1_Missense_Mutation_p.I63M|TP53_uc010cnh.1_Missense_Mutation_p.I195M|TP53_uc010cni.1_Missense_Mutation_p.I195M|TP53_uc002gij.2_Missense_Mutation_p.I195M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102M|TP53_uc002gio.2_Missense_Mutation_p.I63M|TP53_uc010vug.1_Missense_Mutation_p.I156M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 195 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (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.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.R196*(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.H193_I195>AP(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.I195fs*12(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) CTTCCACTCGGATAAGATGCT 0.547 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 14 12 0 0 0.020292 0 0 DNAH2 146754 broad.mit.edu 37 17 7708677 7708677 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:7708677C>T uc002giu.1 + 60 9422 c.9408C>T c.(9406-9408)AAC>AAT p.N3136N DNAH2_uc010cnm.1_Silent_p.N74N NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3136 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTCGAGGCAACGAGCCCACAT 0.403 NA 10 34 0 0 0.008291 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29855757 29855757 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:29855757C>A uc002hgn.1 + 13 1843 c.1614C>A c.(1612-1614)CGC>CGA p.R538R RAB11FIP4_uc002hgo.2_Silent_p.R436R NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 538 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) CCAGGGCCCGCGAGGTGGAGC 0.667 NA 8 7 0.000157383 0.000171373 0.00308 1 0 STAT5A 6776 broad.mit.edu 37 17 40453374 40453374 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:40453374C>T uc002hzj.1 + 10 1713 c.1071C>T c.(1069-1071)GGC>GGT p.G357G STAT5A_uc010cya.1_Silent_p.G357G|STAT5A_uc010cyb.1_Silent_p.G357G|STAT5A_uc010cyc.1_Silent_p.G327G NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 357 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGCTGGTGGGCGGGAAGCTGA 0.562 NA 33 23 0 0 0.009535 0 0 TEX14 56155 broad.mit.edu 37 17 56679786 56679786 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:56679786C>T uc010dcz.1 - 12 1638 c.1520G>A c.(1519-1521)CGG>CAG p.R507Q TEX14_uc002iwr.1_Missense_Mutation_p.R501Q|TEX14_uc002iws.1_Missense_Mutation_p.R501Q|TEX14_uc010dda.1_Missense_Mutation_p.R281Q NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 507 Protein kinase. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGAATATACCGGATATCTTG 0.408 NA 9 64 0 0 0.006214 0 0 ABCA9 10350 broad.mit.edu 37 17 67003946 67003946 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:67003946C>T uc002jhu.2 - 25 3532 c.3389G>A c.(3388-3390)CGC>CAC p.R1130H ABCA9_uc010dez.2_Intron NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1130 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCTCCCATTGCGAAAAATGAA 0.313 NA 12 36 0 0 0.016723 0 0 KIAA0195 9772 broad.mit.edu 37 17 73484840 73484840 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr17:73484840G>A uc002jnz.3 + 7 888 c.613G>A c.(613-615)GAT>AAT p.D205N KIAA0195_uc010wsa.1_Missense_Mutation_p.D215N|KIAA0195_uc010wsb.1_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 205 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGCCGGCAGGATGACGAGCA 0.612 NA 19 75 0 0 0.012319 0 0 SETBP1 26040 broad.mit.edu 37 18 42643114 42643114 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr18:42643114G>T uc010dni.2 + 6 4538 c.4242G>T c.(4240-4242)ATG>ATT p.M1414I NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1414 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGCGGAAGATGTGCAACTACA 0.532 NA Schinzel-Giedion_syndrome 17 20 4.7546e-09 5.82439e-09 0.004007 1 0 KIAA1632 57724 broad.mit.edu 37 18 43462448 43462448 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr18:43462448T>A uc002lbm.2 - 31 5409 c.5309A>T c.(5308-5310)GAT>GTT p.D1770V KIAA1632_uc010xcq.1_Missense_Mutation_p.D324V|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.D645V NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1770 autophagy 0 TTGTTTAAGATCGAACTAAAA 0.393 NA 6 22 0 0 0.00308 0 0 SERPINB5 5268 broad.mit.edu 37 18 61160254 61160254 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr18:61160254G>A uc002liz.3 + 5 635 c.493G>A c.(493-495)GCC>ACC p.A165T SERPINB5_uc002liy.2_Missense_Mutation_p.A165T NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 165 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 GGTTAATGCTGCCTACTTTGT 0.408 NA 32 53 0 0 0.012213 0 0 KCNG2 26251 broad.mit.edu 37 18 77659344 77659344 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr18:77659344C>T uc010xfl.1 + 2 929 c.929C>T c.(928-930)TCG>TTG p.S310L NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 310 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GGGCTGCGTTCGCTGGGCCTG 0.726 NA 2 2 0 0 0.004672 0 0 AP3D1 8943 broad.mit.edu 37 19 2138643 2138643 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:2138643G>A uc002luz.2 - 2 390 c.167C>T c.(166-168)GCG>GTG p.A56V AP3D1_uc002luy.2_Missense_Mutation_p.A56V|AP3D1_uc002lva.2_Missense_Mutation_p.A56V NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 56 HEAT 1. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACCGCGTTCGCCTTCACCGC 0.517 NA 23 47 0 0 0.016522 0 0 PTPRS 5802 broad.mit.edu 37 19 5245847 5245847 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:5245847T>A uc002mbv.2 - 10 1162 c.928A>T c.(928-930)ACC>TCC p.T310S PTPRS_uc002mbu.1_Missense_Mutation_p.T297S|PTPRS_uc010xin.1_Missense_Mutation_p.T297S|PTPRS_uc002mbw.2_Missense_Mutation_p.T297S|PTPRS_uc002mbx.2_Missense_Mutation_p.T301S|PTPRS_uc002mby.2_Missense_Mutation_p.T297S NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 310 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCCACGCAGGTGTAGTTGGCC 0.632 NA 15 7 0 0 0.004007 0 0 ZNF559 84527 broad.mit.edu 37 19 9452452 9452452 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:9452452C>T uc002mlg.2 + 7 972 c.325C>T c.(325-327)CAC>TAC p.H109Y ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.H101Y|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.H173Y|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 109 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTTAAGACTCACAGGAGAAC 0.358 NA 29 20 0 0 0.007291 0 0 PLVAP 83483 broad.mit.edu 37 19 17487843 17487843 + Silent SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:17487843G>A uc002ngk.1 - 1 305 c.255C>T c.(253-255)ACC>ACT p.T85T NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 85 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 TGAGCTCCTTGGTCAAGTTGG 0.622 NA 19 11 0 0 0.010504 0 0 SF4 57794 broad.mit.edu 37 19 19408000 19408000 + Missense_Mutation SNP T T G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:19408000T>G uc002nmh.2 - 8 1043 c.1041A>C c.(1039-1041)TTA>TTC p.L347F SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.L137F|SF4_uc002nmj.2_Missense_Mutation_p.L137F|SF4_uc010xqr.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 347 Pro-rich. nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 TGGCTGGGGGTAAGGACCCTG 0.672 NA 6 39 0 0 0.006214 0 0 C19orf55 148137 broad.mit.edu 37 19 36253234 36253234 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:36253234G>C uc002obq.1 + 5 593 c.520G>C c.(520-522)GCT>CCT p.A174P C19orf55_uc002obp.2_Missense_Mutation_p.A173P|C19orf55_uc002obo.1_Missense_Mutation_p.A174P NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN hypothetical protein LOC148137 174 ovary(1) 1 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCATGCTGTGGCTCCCCTTCA 0.532 NA 4 1 0 0 0.014758 0 0 DPF1 8193 broad.mit.edu 37 19 38709662 38709662 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:38709662G>T uc002ohl.2 - 4 443 c.416C>A c.(415-417)CCG>CAG p.P139Q DPF1_uc002ohm.2_Missense_Mutation_p.P139Q|DPF1_uc002ohn.2_Missense_Mutation_p.P57Q|DPF1_uc010xtu.1_Missense_Mutation_p.P113Q|DPF1_uc010xtv.1_Missense_Mutation_p.P113Q|DPF1_uc010xtw.1_Missense_Mutation_p.P113Q NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 139 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGCCCTTCCGGGAGGCCACC 0.607 NA 54 57 2.82306e-37 4.68916e-37 0.01441 1 0 EGLN2 112398 broad.mit.edu 37 19 41306994 41306994 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:41306994G>T uc010ehd.2 + 8 1518 c.517G>T c.(517-519)GCG>TCG p.A173S EGLN2_uc002opg.3_Missense_Mutation_p.A173S|EGLN2_uc002oph.2_Missense_Mutation_p.A173S|EGLN2_uc002opi.2_Missense_Mutation_p.A173S NM_080732 NP_542770 Q96KS0 EGLN2_HUMAN EGL nine (C.elegans) homolog 2 173 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) GCTGCCCTCTGCGCCCGAGCG 0.667 NA 41 31 2.40579e-17 3.62719e-17 0.00623 1 0 ATP5SL 55101 broad.mit.edu 37 19 41944255 41944255 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:41944255G>A uc002oqw.1 - 2 89 c.83C>T c.(82-84)GCA>GTA p.A28V CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Missense_Mutation_p.A34V|ATP5SL_uc010xwa.1_Missense_Mutation_p.A34V|ATP5SL_uc002oqx.1_Missense_Mutation_p.A28V|ATP5SL_uc002oqy.1_Missense_Mutation_p.A28V|ATP5SL_uc002oqz.1_Missense_Mutation_p.A28V|ATP5SL_uc002ora.1_Missense_Mutation_p.A15V|ATP5SL_uc010xwb.1_Missense_Mutation_p.A34V NM_018035 NP_060505 Q9NW81 AT5SL_HUMAN ATP5S-like 28 large_intestine(1)|breast(1) 2 TGGGGCCACTGCCGCACCCAG 0.582 NA 15 33 0 0 0.003163 0 0 PSG8 440533 broad.mit.edu 37 19 43258594 43258594 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:43258594C>A uc002ouo.2 - 5 1232 c.1134G>T c.(1132-1134)AAG>AAT p.K378N PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.K217N|PSG8_uc002ouh.2_Missense_Mutation_p.K378N|PSG8_uc010ein.2_Missense_Mutation_p.K256N|PSG8_uc002ouj.3_Missense_Mutation_p.K160N|PSG8_uc002ouk.3_Missense_Mutation_p.K217N|PSG8_uc002oul.3_Missense_Mutation_p.K378N|PSG8_uc002oum.3_Missense_Mutation_p.K285N|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.K285N NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 378 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) GGATAAAGAGCTTTTGTCCTG 0.463 NA 46 171 4.18559e-23 6.563e-23 0.01441 1 0 ZNF416 55659 broad.mit.edu 37 19 58083957 58083957 + Nonsense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr19:58083957C>A uc002qpf.2 - 4 1486 c.1315G>T c.(1315-1317)GAG>TAG p.E439* ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 439 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TCATCACACTCAAAGGGCCTA 0.468 NA 34 30 8.4185e-14 1.2044e-13 0.012213 1 0 C2orf16 84226 broad.mit.edu 37 2 27805334 27805334 + Silent SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:27805334C>A uc002rkz.3 + 1 5946 c.5895C>A c.(5893-5895)CTC>CTA p.L1965L 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 1965 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CAACTCTCCTCGGGACCACAC 0.507 NA 41 32 1.34996e-11 1.82478e-11 0.009718 1 0 NEURL3 93082 broad.mit.edu 37 2 97166170 97166170 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:97166170C>A uc010yuo.1 - 2 591 c.520G>T c.(520-522)GCG>TCG p.A174S NEURL3_uc010fhx.2_Intron|NEURL3_uc002swc.2_Intron SubName: Full=cDNA FLJ54814; 0 CCCATGGTCGCCTCACCCAGC 0.662 NA 13 2 3.27435e-08 3.93726e-08 0.020292 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107423368 107423368 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:107423368G>T uc002tdq.2 - 6 1475 c.1356C>A c.(1354-1356)CAC>CAA p.H452Q ST6GAL2_uc002tdr.2_Missense_Mutation_p.H452Q NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 452 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 ATTCATACACGTGCACCTCTC 0.498 NA 14 5 0.000308642 0.000332384 0.003163 1 0 COL5A2 1290 broad.mit.edu 37 2 189906364 189906364 + Missense_Mutation SNP C C G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:189906364C>G uc002uqk.2 - 50 3856 c.3581G>C c.(3580-3582)GGG>GCG p.G1194A COL5A2_uc010frx.2_Missense_Mutation_p.G770A NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1194 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCAATTGGCCCAAGTGGCCC 0.458 NA 35 27 0 0 0.005524 0 0 GPR55 9290 broad.mit.edu 37 2 231774828 231774829 + Missense_Mutation DNP CC CC AA TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:231774828_231774829CC>AA uc002vrg.2 - 2 1042_1043 c.849_850GG>TT c.(847-852)CTGGAT>CTTTAT p.D284Y GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.D284Y NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 284 Helical; Name=7; (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) CAGAAAACATCCAGGCAGCAGT 0.51 NA 54 38 0 0 0.004672 0 0 MLPH 79083 broad.mit.edu 37 2 238462217 238462217 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:238462217G>T uc002vwt.2 + 16 2012 c.1785G>T c.(1783-1785)GTG>GTT p.V595V MLPH_uc002vws.2_Silent_p.V452V|MLPH_uc002vwu.2_Silent_p.V567V|MLPH_uc002vwv.2_Silent_p.V475V|MLPH_uc002vww.2_Silent_p.V491V|MLPH_uc002vwx.2_Silent_p.V451V|MLPH_uc010fyu.2_Silent_p.V347V NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 595 metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) AGAAACCTGTGGTGGCCCACC 0.328 NA 20 13 4.35082e-09 5.36327e-09 0.010504 1 0 ADNP 23394 broad.mit.edu 37 20 49510018 49510018 + Silent SNP G G A rs146061441 TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr20:49510018G>A uc002xvt.1 - 5 1578 c.1233C>T c.(1231-1233)TCC>TCT p.S411S ADNP_uc002xvu.1_Silent_p.S411S NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 411 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ACTGAGAGAGGGAAGGAGACT 0.552 NA 9 102 0 0 0.006214 0 0 ADNP 23394 broad.mit.edu 37 20 49510304 49510304 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr20:49510304G>A uc002xvt.1 - 5 1292 c.947C>T c.(946-948)TCT>TTT p.S316F ADNP_uc002xvu.1_Missense_Mutation_p.S316F NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 316 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GACTCCTGTAGAATTTAAGTT 0.463 NA 5 79 0 0 0.014758 0 0 LIPI 149998 broad.mit.edu 37 21 15538748 15538748 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr21:15538748C>T uc002yjm.2 - 5 741 c.731G>A c.(730-732)GGA>GAA p.G244E LIPI_uc010gkw.1_Intron NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 223 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATCTATATGTCCCAAGGGCTC 0.348 NA 39 51 0 0 0.006999 0 0 USP25 29761 broad.mit.edu 37 21 17199412 17199412 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr21:17199412C>T uc002yjy.1 + 14 1800 c.1583C>T c.(1582-1584)CCT>CTT p.P528L USP25_uc011aby.1_Missense_Mutation_p.P528L|USP25_uc002yjz.1_Missense_Mutation_p.P528L|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 528 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TCCCGGATACCTCCAGATTTG 0.463 NA 20 36 0 0 0.016522 0 0 POLR3H 171568 broad.mit.edu 37 22 41936719 41936719 + Silent SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr22:41936719G>A uc003baf.2 - 3 252 c.192C>T c.(190-192)GGC>GGT p.G64G POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.G64G|POLR3H_uc003bai.2_Silent_p.G64G|POLR3H_uc003baj.1_Silent_p.G64G NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 64 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 TGTGTGATGCGCCATCCCCAG 0.473 NA 3 58 0 0 0.004672 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555597 50555597 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr22:50555597G>A uc003bjj.2 + 9 1354 c.1271G>A c.(1270-1272)CGC>CAC p.R424H MOV10L1_uc003bjk.3_Missense_Mutation_p.R424H|MOV10L1_uc011arp.1_Missense_Mutation_p.R404H|MOV10L1_uc011arq.1_Missense_Mutation_p.R185H|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 424 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AATCCTGGCCGCTGCAAGGAG 0.388 NA 59 40 0 0 0.01441 0 0 SRGAP3 9901 broad.mit.edu 37 3 9034680 9034680 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr3:9034680G>T uc003brf.1 - 20 3144 c.2468C>A c.(2467-2469)CCA>CAA p.P823Q SRGAP3_uc003brg.1_Missense_Mutation_p.P799Q NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 823 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) ATCCAGCAATGGCCCACTGCT 0.592 NA T RAF1 pilocytic astrocytoma 7 30 0.00198382 0.0020793 0.001984 1 0 PLSCR5 389158 broad.mit.edu 37 3 146311746 146311746 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr3:146311746C>T uc003ewb.2 - 4 1418 c.414G>A c.(412-414)TTG>TTA p.L138L PLSCR5_uc010hvb.2_Silent_p.L126L|PLSCR5_uc010hvc.2_Silent_p.L138L NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 138 0 TGTTACATCTCAAGGGCCTGT 0.438 NA 15 49 0 0 0.003163 0 0 TM4SF4 7104 broad.mit.edu 37 3 149205451 149205451 + Nonsense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr3:149205451G>T uc003exd.1 + 3 541 c.310G>T c.(310-312)GGA>TGA p.G104* NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 104 Helical; (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTTGGGAGCTGGATACTCGTT 0.488 NA 28 13 8.24728e-16 1.21539e-15 0.004656 1 0 TNIK 23043 broad.mit.edu 37 3 170929013 170929013 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr3:170929013G>C uc003fhh.2 - 4 543 c.198C>G c.(196-198)ATC>ATG p.I66M TNIK_uc003fhi.2_Missense_Mutation_p.I66M|TNIK_uc003fhj.2_Missense_Mutation_p.I66M|TNIK_uc003fhk.2_Missense_Mutation_p.I66M|TNIK_uc003fhl.2_Missense_Mutation_p.I66M|TNIK_uc003fhm.2_Missense_Mutation_p.I66M|TNIK_uc003fhn.2_Missense_Mutation_p.I66M|TNIK_uc003fho.2_Missense_Mutation_p.I66M NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 66 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTTCTTGTTTGATTTCTTCCT 0.333 NA 9 48 0 0 0.006214 0 0 NOP14 8602 broad.mit.edu 37 4 2958508 2958508 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:2958508G>C uc003ggj.1 - 3 433 c.361C>G c.(361-363)CTA>GTA p.L121V C4orf10_uc003ggi.1_Intron|NOP14_uc003ggk.3_Missense_Mutation_p.L121V|NOP14_uc003ggl.2_Missense_Mutation_p.L121V|NOP14_uc010icq.1_RNA NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 121 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 TCTTCATTTAGATTGTAGATG 0.378 NA 9 53 0 0 0.004482 0 0 SLIT2 9353 broad.mit.edu 37 4 20618729 20618729 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:20618729C>T uc003gpr.1 + 35 4248 c.4044C>T c.(4042-4044)CCC>CCT p.P1348P SLIT2_uc003gps.1_Silent_p.P1340P NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1348 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CATGCCAGCCCAGCAGCCAGG 0.577 NA 21 25 0 0 0.012319 0 0 LRRC66 339977 broad.mit.edu 37 4 52861716 52861716 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:52861716C>A uc003gzi.2 - 4 1485 c.1472G>T c.(1471-1473)TGC>TTC p.C491F NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 491 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTTGTCCCCGCACTGTCCTGG 0.552 NA 19 62 3.32936e-07 3.88425e-07 0.006122 1 0 LPHN3 23284 broad.mit.edu 37 4 62845485 62845485 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:62845485C>A uc010ihh.2 + 15 2979 c.2806C>A c.(2806-2808)CAA>AAA p.Q936K LPHN3_uc003hcq.3_Missense_Mutation_p.Q936K|LPHN3_uc003hct.2_Missense_Mutation_p.Q329K NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 923 Extracellular (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 CCGAACTGACCAACCAGTAAG 0.443 NA 14 75 9.31168e-06 1.0489e-05 0.016723 1 0 UBA6 55236 broad.mit.edu 37 4 68490853 68490853 + Silent SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:68490853T>A uc003hdg.3 - 29 2623 c.2571A>T c.(2569-2571)GGA>GGT p.G857G NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 857 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 AATCTATGTGTCCATTATGAT 0.388 NA 22 57 0 0 0.016522 0 0 ANKRD56 345079 broad.mit.edu 37 4 77817883 77817883 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:77817883C>A uc003hki.2 - 1 1120 c.1120G>T c.(1120-1122)GCG>TCG p.A374S NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 374 0 GGGTTCCCCGCCCAGGATTCC 0.562 NA 14 60 7.93312e-07 9.04007e-07 0.020292 1 0 UNC5C 8633 broad.mit.edu 37 4 96256587 96256587 + Missense_Mutation SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:96256587A>G uc003htp.1 - 2 474 c.320T>C c.(319-321)GTA>GCA p.V107A UNC5C_uc010ilc.1_Missense_Mutation_p.V107A|UNC5C_uc003htq.2_Missense_Mutation_p.V107A NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 107 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCTTTCATCTACTATGTGGTC 0.418 NA 7 29 0 0 0.001984 0 0 NPY5R 4889 broad.mit.edu 37 4 164271827 164271827 + Silent SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr4:164271827A>T uc003iqn.2 + 4 584 c.402A>T c.(400-402)TCA>TCT p.S134S NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 134 Helical; Name=3; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) TTTTAATATCAATTGCCATTG 0.358 Melanoma(139;1287 1774 9781 19750 25599) NA 38 103 0 0 0.019004 0 0 FASTKD3 79072 broad.mit.edu 37 5 7866983 7866983 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:7866983G>C uc003jeb.2 - 2 1351 c.1214C>G c.(1213-1215)CCT>CGT p.P405R FASTKD3_uc011cmp.1_Missense_Mutation_p.P107R|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 405 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 AATCTGACGAGGTGAAAATTT 0.403 NA 20 57 0 0 0.010504 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629408 9629408 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:9629408A>T uc003jem.1 - 1 1056 c.737T>A c.(736-738)TTT>TAT p.F246Y NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 246 Extracellular (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 AGAAGAGAGAAAAACTTTTAT 0.458 NA 32 37 0 0 0.013726 0 0 CDH9 1007 broad.mit.edu 37 5 26906151 26906151 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:26906151C>T uc003jgs.1 - 5 897 c.728G>A c.(727-729)GGC>GAC p.G243D CDH9_uc010iug.2_Missense_Mutation_p.G243D NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 243 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCCCATCTGGCCACCCATGTC 0.453 Melanoma(8;187 585 15745 40864 52829) NA 35 88 0 0 0.019004 0 0 DMXL1 1657 broad.mit.edu 37 5 118484728 118484728 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:118484728G>T uc003ksd.2 + 18 3387 c.3206G>T c.(3205-3207)AGA>ATA p.R1069I DMXL1_uc010jcl.1_Missense_Mutation_p.R1069I NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1069 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TCTAATAGTAGATCTTCCCAG 0.398 NA 32 125 9.65021e-13 1.332e-12 0.010818 1 0 SEC24A 10802 broad.mit.edu 37 5 134056703 134056703 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:134056703G>C uc003kzs.2 + 21 3274 c.2986G>C c.(2986-2988)GTT>CTT p.V996L SEC24A_uc011cxu.1_Missense_Mutation_p.V760L NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 996 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GATGCTTTGGGTTGGAAAAAA 0.333 NA 7 46 0 0 0.006214 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139907856 139907856 + Silent SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:139907856T>A uc003lfs.1 + 29 5449 c.5325T>A c.(5323-5325)CCT>CCA p.P1775P ANKHD1_uc003lfr.2_Silent_p.P1775P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P514P|ANKHD1_uc003lfw.2_Silent_p.P413P|ANKHD1_uc010jfl.2_Silent_p.P210P|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1775 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTGATTCCTAAAAATCATA 0.403 NA 3 78 0 0 0.004672 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724004 140724004 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:140724004C>A uc003ljm.1 + 1 404 c.404C>A c.(403-405)ACA>AAA p.T135K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc011dap.1_Missense_Mutation_p.T135K NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 135 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTTCCCAACAGAGGAATTG 0.333 NA 8 22 0.000274275 0.000297005 0.004482 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140753772 140753772 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:140753772A>T uc003ljy.1 + 1 122 c.122A>T c.(121-123)AAA>ATA p.K41I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.K41I NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 41 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGAGAAAGGCTCCTTC 0.647 NA 5 30 0 0 0.014758 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772574 140772574 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:140772574G>T uc003lkd.1 + 1 1092 c.194G>T c.(193-195)CGT>CTT p.R65L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R65L NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 65 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGAGTCCGTATCGTCTCC 0.617 NA 14 46 3.41278e-10 4.37193e-10 0.00499 1 0 ATP10B 23120 broad.mit.edu 37 5 160034041 160034041 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:160034041C>T uc003lym.1 - 19 3738 c.2891G>A c.(2890-2892)CGT>CAT p.R964H ATP10B_uc010jit.1_Missense_Mutation_p.R281H NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 964 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGTAGTTCACGAAATTGCTT 0.438 NA 16 60 0 0 0.003163 0 0 GRM6 2916 broad.mit.edu 37 5 178418906 178418906 + Missense_Mutation SNP C C G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr5:178418906C>G uc003mjr.2 - 2 862 c.683G>C c.(682-684)AGT>ACT p.S228T GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 228 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CTCAACCCCACTTTCGCCATA 0.632 NA 9 25 0 0 0.006214 0 0 CYB5R4 51167 broad.mit.edu 37 6 84603269 84603269 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr6:84603269G>T uc003pkf.2 + 3 390 c.258G>T c.(256-258)ATG>ATT p.M86I NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 86 Cytochrome b5 heme-binding. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) GCCCTTATATGGAGTATCATC 0.338 Esophageal Squamous(86;1289 1332 25971 40349 52675) NA 36 29 9.62906e-15 1.398e-14 0.00623 1 0 PTPRK 5796 broad.mit.edu 37 6 128319937 128319937 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr6:128319937C>A uc003qbk.2 - 16 2971 c.2604G>T c.(2602-2604)AGG>AGT p.R868S PTPRK_uc003qbj.2_Missense_Mutation_p.R869S|PTPRK_uc010kfc.2_Missense_Mutation_p.R869S|PTPRK_uc011ebu.1_Missense_Mutation_p.R885S|PTPRK_uc010kfd.1_Missense_Mutation_p.R94S NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 868 Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AATCAGCTACCCTGATGGCTG 0.473 NA 27 20 2.65835e-16 3.94724e-16 0.007291 1 0 PDE10A 10846 broad.mit.edu 37 6 165806181 165806181 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr6:165806181A>T uc003qun.2 - 17 1821 c.1580T>A c.(1579-1581)ATG>AAG p.M527K PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.M457K|PDE10A_uc003quo.2_Missense_Mutation_p.M537K NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 527 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TATGGCATACATGCAGTGTGC 0.443 Esophageal Squamous(22;308 615 5753 12038 40624) NA 8 29 0 0 0.008291 0 0 MMD2 221938 broad.mit.edu 37 7 4949568 4949568 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:4949568C>T uc003sno.3 - 6 749 c.553G>A c.(553-555)GAG>AAG p.E185K MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.E161K|MMD2_uc010ksq.2_Missense_Mutation_p.E161K NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 185 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CAGAGAAGCTCCACAAGCTTG 0.577 NA 20 20 0 0 0.012319 0 0 HDAC9 9734 broad.mit.edu 37 7 18625111 18625111 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:18625111G>T uc003suh.2 + 2 271 c.230G>T c.(229-231)CGG>CTG p.R77L HDAC9_uc003sue.2_Missense_Mutation_p.R77L|HDAC9_uc011jyd.1_Missense_Mutation_p.R77L|HDAC9_uc003sui.2_Missense_Mutation_p.R77L|HDAC9_uc003suj.2_Missense_Mutation_p.R77L|HDAC9_uc011jya.1_Missense_Mutation_p.R118L|HDAC9_uc003sua.1_Missense_Mutation_p.R96L|HDAC9_uc011jyb.1_Missense_Mutation_p.R77L|HDAC9_uc003sud.1_Missense_Mutation_p.R77L|HDAC9_uc011jyc.1_Missense_Mutation_p.R77L|HDAC9_uc003suf.1_Missense_Mutation_p.R105L|HDAC9_uc010kud.1_Missense_Mutation_p.R77L|HDAC9_uc011jye.1_Missense_Mutation_p.R46L|HDAC9_uc011jyf.1_Missense_Mutation_p.R46L NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 77 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AACTTGACACGGCAGCACCAG 0.483 NA 19 20 5.35267e-07 6.17131e-07 0.007413 1 0 PKD1L1 168507 broad.mit.edu 37 7 47976473 47976473 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:47976473G>T uc003tny.1 - 4 368 c.368C>A c.(367-369)GCG>GAG p.A123E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 123 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ATCCAGAGGCGCCTGTGTTTT 0.348 NA 28 84 1.39806e-14 2.01484e-14 0.008361 1 0 EGFR 1956 broad.mit.edu 37 7 55259441 55259441 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:55259441G>T uc003tqk.2 + 21 2745 c.2499G>T c.(2497-2499)TTG>TTT p.L833F EGFR_uc010kzg.1_Missense_Mutation_p.L788F|EGFR_uc011kco.1_Missense_Mutation_p.L780F|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 833 Cytoplasmic (Potential).|Protein kinase. L -> V (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L833V(18) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACCGTCGCTTGGTGCACCGCG 0.547 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 17 49 1.5739e-10 2.05656e-10 0.004007 1 0 EGFR 1956 broad.mit.edu 37 7 55259524 55259524 + Missense_Mutation SNP T T A rs121913444 TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:55259524T>A uc003tqk.2 + 21 2828 c.2582T>A c.(2581-2583)CTG>CAG p.L861Q EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 861 Cytoplasmic (Potential).|Protein kinase. L -> Q (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGCCAAACTGCTGGGTGCG 0.557 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 16 54 0 0 0.00499 0 0 FKBP9L 360132 broad.mit.edu 37 7 55759185 55759185 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:55759185G>A uc010kzl.2 - 3 197 c.97C>T c.(97-99)CCC>TCC p.P33S FKBP9L_uc003tqt.2_5'Flank|FKBP9L_uc011kcs.1_5'Flank NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 GCCAAGCTGGGGATATTCCCT 0.557 NA 12 25 0 0 0.013537 0 0 AUTS2 26053 broad.mit.edu 37 7 69364318 69364318 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:69364318C>T uc003tvw.3 + 2 1099 c.356C>T c.(355-357)ACG>ATG p.T119M AUTS2_uc003tvv.3_Missense_Mutation_p.T119M|AUTS2_uc003tvx.3_Missense_Mutation_p.T119M NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 119 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AAACGCCAGACGCCCCTGACC 0.478 NA 20 45 0 0 0.007413 0 0 PCLO 27445 broad.mit.edu 37 7 82579138 82579138 + Missense_Mutation SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:82579138T>A uc003uhx.2 - 6 11055 c.10766A>T c.(10765-10767)GAC>GTC p.D3589V PCLO_uc003uhv.2_Missense_Mutation_p.D3589V|PCLO_uc010lec.2_Missense_Mutation_p.D554V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3520 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCGTTTCTTGTCTTTGGGTGG 0.483 NA 33 24 0 0 0.009535 0 0 LAMB4 22798 broad.mit.edu 37 7 107710286 107710286 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:107710286G>C uc010ljo.1 - 18 2253 c.2169C>G c.(2167-2169)AGC>AGG p.S723R LAMB4_uc003vey.2_Missense_Mutation_p.S723R NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 723 Laminin IV type B. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AGTCCTGCTTGCTGCAGAAAT 0.428 NA 44 57 0 0 0.01441 0 0 KEL 3792 broad.mit.edu 37 7 142649603 142649603 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:142649603G>T uc003wcb.2 - 10 1406 c.1196C>A c.(1195-1197)CCA>CAA p.P399Q NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 399 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CACCATGGGTGGTTGCTCTGT 0.542 NA 21 53 4.59853e-10 5.77764e-10 0.005443 1 0 CASP2 835 broad.mit.edu 37 7 143001797 143001797 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:143001797G>T uc003wco.2 + 10 1295 c.1148G>T c.(1147-1149)GGT>GTT p.G383V CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.G267V|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Missense_Mutation_p.G133V NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 383 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) ACCAAACGAGGTTCCTGGTAC 0.547 NA 58 71 2.89935e-36 4.73561e-36 0.01441 1 0 OR2A14 135941 broad.mit.edu 37 7 143826473 143826473 + Missense_Mutation SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:143826473A>G uc011kua.1 + 1 268 c.268A>G c.(268-270)ACC>GCC p.T90A NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CCAGGAAAGCACCATCTCCTT 0.438 NA 54 202 0 0 0.01441 0 0 SSPO 23145 broad.mit.edu 37 7 149482801 149482801 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:149482801G>C uc010lpk.2 + 22 3217 c.3217G>C c.(3217-3219)GAG>CAG p.E1073Q SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1073 VWFD 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGTGCGTCTGGAGGGCACTGT 0.622 NA 5 6 0 0 0.001168 0 0 ABCB8 11194 broad.mit.edu 37 7 150739111 150739111 + Missense_Mutation SNP G G A rs144722322 byFrequency TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:150739111G>A uc003wil.3 + 15 1825 c.1732G>A c.(1732-1734)GAT>AAT p.D578N ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Missense_Mutation_p.D561N|ABCB8_uc011kvd.1_Missense_Mutation_p.D473N|ABCB8_uc003wim.3_Missense_Mutation_p.D356N|ABCB8_uc003wik.3_Missense_Mutation_p.D561N NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 578 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAAGCTTCCGATGAAGAGGT 0.577 NA 4 57 0 0 0.009096 0 0 PDGFRL 5157 broad.mit.edu 37 8 17434764 17434764 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:17434764G>C uc003wxr.2 + 1 64 c.3G>C c.(1-3)ATG>ATC p.M1I NM_006207 NP_006198 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 1 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity 0 Colorectal(111;0.0752) TTCCCGAGATGAAGGTCTGGC 0.711 NA OREG0018579 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 9 0 0 0.009096 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429084 23429084 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:23429084G>T uc003xdo.2 + 4 886 c.733G>T c.(733-735)GGG>TGG p.G245W SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 245 Solcar 3.|Helical; Name=5; (Potential). ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CGGGCTGGCCGGGGCCCTCGC 0.652 NA 6 8 1.06961e-07 1.26292e-07 0.00308 1 0 NEFM 4741 broad.mit.edu 37 8 24775338 24775338 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:24775338C>T uc003xed.3 + 3 2003 c.1970C>T c.(1969-1971)CCG>CTG p.P657L NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.P281L NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 657 4.|6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TCTCCTGTGCCGAAATCACCA 0.483 NA 20 15 0 0 0.016522 0 0 PRKDC 5591 broad.mit.edu 37 8 48711844 48711844 + Silent SNP C C G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:48711844C>G uc003xqi.2 - 73 10281 c.10224G>C c.(10222-10224)GGG>GGC p.G3408G PRKDC_uc003xqj.2_Silent_p.G3408G|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3408 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CATCAATCACCCCAGCTGCAG 0.552 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 33 23 0 0 0.009535 0 0 STAU2 27067 broad.mit.edu 37 8 74585457 74585458 + Nonsense_Mutation DNP CC CC AA TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:74585457_74585458CC>AA uc003xzm.2 - 6 530_531 c.294_295GG>TT c.(292-297)GTGGAA>GTTTAA p.E99* STAU2_uc011lfg.1_Intron|STAU2_uc003xzn.2_Nonsense_Mutation_p.E67*|STAU2_uc011lfh.1_5'UTR|STAU2_uc003xzo.2_Nonsense_Mutation_p.E99*|STAU2_uc003xzp.2_Nonsense_Mutation_p.E67*|STAU2_uc011lfi.1_Nonsense_Mutation_p.E61*|STAU2_uc003xzq.2_Intron|STAU2_uc010lzk.2_Nonsense_Mutation_p.E67*|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.2_Nonsense_Mutation_p.E67*|STAU2_uc003xzr.2_Nonsense_Mutation_p.E61* NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 99 DRBM 2. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) CCATTCAGTTCCACAGTTGGAG 0.381 NA 46 16 0 0 0.004672 0 0 FAM91A1 157769 broad.mit.edu 37 8 124824817 124824817 + Missense_Mutation SNP A A G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:124824817A>G uc003yqv.2 + 24 2451 c.2390A>G c.(2389-2391)CAG>CGG p.Q797R FAM91A1_uc011lil.1_Missense_Mutation_p.Q555R NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 797 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TTGCTTTCACAGTCATCGTGT 0.383 NA 52 29 0 0 0.01441 0 0 BAI1 575 broad.mit.edu 37 8 143560728 143560728 + Missense_Mutation SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr8:143560728G>C uc003ywm.2 + 7 1789 c.1606G>C c.(1606-1608)GTC>CTC p.V536L NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 536 Extracellular (Potential).|TSP type-1 5. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGTTGCAGCGTCACGTGTGG 0.692 NA 12 3 0 0 0.020292 0 0 TLN1 7094 broad.mit.edu 37 9 35712916 35712916 + Silent SNP C C G TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr9:35712916C>G uc003zxt.2 - 27 3831 c.3477G>C c.(3475-3477)CTG>CTC p.L1159L NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1159 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGCCTTGTCCAGCACATCAC 0.617 NA 4 4 0 0 0.009096 0 0 TLE1 7088 broad.mit.edu 37 9 84228380 84228380 + Silent SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr9:84228380G>A uc004aly.2 - 12 1416 c.975C>T c.(973-975)GAC>GAT p.D325D TLE1_uc004alz.2_Silent_p.D335D|TLE1_uc011lsr.1_Silent_p.D325D|TLE1_uc004ama.1_Silent_p.D325D|TLE1_uc011lss.1_Silent_p.D251D NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 325 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 GCGTTGGCATGTCGCTCCGAG 0.537 NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA 10 36 0 0 0.013537 0 0 TMOD1 7111 broad.mit.edu 37 9 100353718 100353718 + Splice_Site SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr9:100353718G>T uc004axk.1 + 9 1228 c.1015_splice c.e9+1 p.V339_splice TMOD1_uc004axl.1_Splice_Site_p.V339_splice NM_003275 NP_003266 P28289 TMOD1_HUMAN tropomodulin 1 muscle filament sliding cytosol actin binding 0 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) AATGACCTTGGTGAGTAGAAA 0.502 NA 20 46 7.45023e-12 1.01406e-11 0.010504 1 0 COL15A1 1306 broad.mit.edu 37 9 101798476 101798476 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr9:101798476C>T uc004azb.1 + 20 2520 c.2314C>T c.(2314-2316)CGG>TGG p.R772W NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 772 Triple-helical region 3 (COL3). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GAAAGGAGACCGGGGACCCAA 0.478 NA 20 45 0 0 0.010504 0 0 MXRA5 25878 broad.mit.edu 37 X 3229355 3229355 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:3229355G>A uc004crg.3 - 7 7046 c.6889C>T c.(6889-6891)CGC>TGC p.R2297C NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2297 Ig-like C2-type 7. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGCTTGGTGCGTCCACCGCTG 0.557 NA 13 42 0 0 0.013537 0 0 PDK3 5165 broad.mit.edu 37 X 24537108 24537108 + Silent SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:24537108G>T uc004dbg.2 + 6 883 c.654G>T c.(652-654)CTG>CTT p.L218L PDK3_uc004dbh.2_Silent_p.L218L NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 218 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 CTCCAGAGCTGGAAGTTGAAG 0.358 NA 32 9 4.3181e-19 6.66415e-19 0.013726 1 0 CXorf36 79742 broad.mit.edu 37 X 45051168 45051168 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:45051168C>A uc004dgg.2 - 2 401 c.326G>T c.(325-327)CGC>CTC p.R109L CXorf36_uc004dgi.3_Missense_Mutation_p.R109L NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 109 extracellular region lung(1) 1 CTCCACAGGGCGCCAGATTTT 0.488 NA 22 11 3.62473e-10 4.6133e-10 0.012319 1 0 STARD8 9754 broad.mit.edu 37 X 67937333 67937333 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:67937333C>A uc004dxa.2 + 5 709 c.337C>A c.(337-339)CAG>AAG p.Q113K STARD8_uc004dxb.2_Missense_Mutation_p.Q193K|STARD8_uc004dxc.3_Missense_Mutation_p.Q113K NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 113 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CACCCAGGGCCAGGAGGGTCC 0.632 NA 32 5 4.65686e-17 6.96752e-17 0.017118 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912915 77912915 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:77912915C>A uc004edc.1 - 2 1299 c.1003G>T c.(1003-1005)GGG>TGG p.G335W NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 335 nucleic acid binding|zinc ion binding ovary(1) 1 TGACCCTCCCCTTGGCAGAGT 0.463 NA 18 6 2.35188e-11 3.13584e-11 0.006122 1 0 HDX 139324 broad.mit.edu 37 X 83723704 83723704 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:83723704G>A uc004eek.1 - 3 1136 c.1027C>T c.(1027-1029)CCC>TCC p.P343S HDX_uc011mqv.1_Missense_Mutation_p.P343S|HDX_uc004eel.1_Missense_Mutation_p.P285S NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 343 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 CCTGGTCCGGGCAAGGTTGTA 0.423 Pancreas(53;231 1169 36156 43751 51139) NA 3 47 0 0 0.004672 0 0 KLHL4 56062 broad.mit.edu 37 X 86877364 86877364 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:86877364A>T uc004efb.2 + 5 1260 c.1078A>T c.(1078-1080)AGG>TGG p.R360W KLHL4_uc004efa.2_Missense_Mutation_p.R360W NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 360 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGTGCAGAATAGGCAAGGAGA 0.408 NA 40 14 0 0 0.013114 0 0 FAM45B 55855 broad.mit.edu 37 X 129629590 129629590 + Missense_Mutation SNP C C A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:129629590C>A uc010nrh.2 + 1 676 c.458C>A c.(457-459)GCC>GAC p.A153D uc004evu.2_Intron NM_207009 NP_996892 hypothetical protein LOC404636 skin(1) 1 all cancers(201;0.0293) GCCCGAAAGGCCTACCCGGCT 0.413 NA 37 20 6.97489e-18 1.06803e-17 0.021022 1 0 SAGE1 55511 broad.mit.edu 37 X 134988657 134988657 + Missense_Mutation SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chrX:134988657G>A uc004ezh.2 + 7 850 c.683G>A c.(682-684)CGG>CAG p.R228Q SAGE1_uc010nry.1_Missense_Mutation_p.R197Q|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 228 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTTCGACCACGGCGTATTAAT 0.418 NA 73 110 0 0 0.01441 0 0 IRS2 8660 broad.mit.edu 37 13 110435129 110435129 + Frame_Shift_Del DEL G G - TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr13:110435129delG uc001vqv.2 - 1 3786 c.3272delC c.(3271-3273)CCGfs p.P1091fs NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1091 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TTCTGGCTTCGGGGGGGCCGC 0.682 Melanoma(100;613 2409 40847) NA 2 4 --- --- --- --- NA NA NA NA NA BIRC6 57448 broad.mit.edu 37 2 32658718 32658719 + Frame_Shift_Ins INS - - T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr2:32658718_32658719insT uc010ezu.2 + 13 3389_3390 c.3255_3256insT c.(3253-3258)AGCTGGfs p.S1085fs NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1085_1086 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACAGCAACAGCTGGGATGAACA 0.351 Pancreas(94;175 1509 16028 18060 45422) NA 10 11 --- --- --- --- NA NA NA NA NA SPDYE1 285955 broad.mit.edu 37 7 44042208 44042208 + Frame_Shift_Del DEL C C - TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 209d853d-6c50-4223-a572-a90d58aee51e 6452e130-5262-4556-b762-a7c3b4e53f74 g.chr7:44042208delC uc003tjf.2 + 2 415 c.279delC c.(277-279)AGCfs p.S93fs POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron NM_175064 NP_778234 Q8NFV5 SPDE1_HUMAN Williams Beuren syndrome chromosome region 19 93 ovary(1) 1 TAGATCCCAGCCCCCCGCATA 0.572 NA 3 3 --- --- --- --- NA NA NA NA NA