Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ACAP3 116983 broad.mit.edu 37 1 1235416 1235416 + Missense_Mutation SNP G G T rs147197474 byFrequency TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:1235416G>T uc001aeb.2 - 8 674 c.600C>A c.(598-600)TTC>TTA p.F200L ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.F158L|ACAP3_uc001aec.1_Missense_Mutation_p.F158L NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 200 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 CCTGCTGGAAGAAGCTGGACT 0.657 NaN 1 0 6.17242e-35 0.01441 6.65509e-35 49 64 MEGF6 1953 broad.mit.edu 37 1 3425647 3425647 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:3425647T>C uc001akl.2 - 12 1747 c.1520A>G c.(1519-1521)GAG>GGG p.E507G MEGF6_uc001akk.2_Missense_Mutation_p.E402G NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 507 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) ACCAAACTTCTCTGTGAGCGT 0.672 NaN 0 0 0 0.010729 0 11 29 CASZ1 54897 broad.mit.edu 37 1 10720282 10720282 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:10720282G>A uc001aro.2 - 6 1137 c.817C>T c.(817-819)CTG>TTG p.L273L CASZ1_uc001arp.1_Silent_p.L273L|CASZ1_uc009vmx.2_Silent_p.L297L|CASZ1_uc001arq.1_Silent_p.L132L NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 273 L -> P (in Ref. 2; ABB29845). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGGCCGGGCAGGGTGCCCACC 0.687 NaN 0 0 0 0.01441 0 110 106 ARHGEF19 128272 broad.mit.edu 37 1 16532689 16532689 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:16532689C>G uc001ayc.1 - 7 1421 c.1284G>C c.(1282-1284)AAG>AAC p.K428N ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 428 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CGCTGGTGCTCTTGACCTCGG 0.637 NaN 0 0 0 0.006122 0 17 9 DHDDS 79947 broad.mit.edu 37 1 26772806 26772806 + Splice_Site SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:26772806G>A uc001bml.2 + 5 445 c.324_splice c.e5-1 p.K108_splice DHDDS_uc001bmk.2_Splice_Site_p.K108_splice|DHDDS_uc001bmm.2_Splice_Site_p.K15_splice|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Splice_Site_p.K108_splice NM_205861 NP_995583 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase isoform b protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(3) 3 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) TCCCTGATCAGGGAGAAACTG 0.483 NaN 0 0 0 0.001855 0 13 61 EPB41 2035 broad.mit.edu 37 1 29438879 29438879 + Splice_Site SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:29438879G>C uc001brm.1 + 18 2423 c.2416_splice c.e18-1 p.T806_splice EPB41_uc001brg.1_Splice_Site_p.T583_splice|EPB41_uc001brh.1_Splice_Site_p.T530_splice|EPB41_uc001bri.1_Splice_Site_p.T717_splice|EPB41_uc001brj.1_Splice_Site_p.T543_splice|EPB41_uc001brl.1_Splice_Site_p.T773_splice|EPB41_uc009vtl.1_Splice_Site_p.T500_splice|EPB41_uc009vtm.1_Splice_Site_p.T385_splice|EPB41_uc009vtn.1_Splice_Site NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TTTGGTTCCAGACTGTAAAAG 0.299 NaN 0 0 0 0.005524 0 35 95 SFPQ 6421 broad.mit.edu 37 1 35656103 35656103 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:35656103G>A uc001bys.2 - 4 1504 c.1411C>T c.(1411-1413)CAA>TAA p.Q471* SFPQ_uc001byr.2_RNA NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 471 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TCTTACTTTTGATACATTGGA 0.308 NaN T TFE3 papillary renal cell 0 0 0 0.00245 0 14 12 KIAA0319L 79932 broad.mit.edu 37 1 35915495 35915495 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:35915495C>G uc001byx.2 - 15 2584 c.2326G>C c.(2326-2328)GAC>CAC p.D776H KIAA0319L_uc001byw.2_Missense_Mutation_p.D218H|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D418H NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 776 PKD 5.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGGTCCGGTCTGTGTCACTC 0.483 NaN 0 0 0 0.009535 0 31 49 SLC2A1 6513 broad.mit.edu 37 1 43394663 43394663 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:43394663G>A uc001cik.2 - 8 1539 c.1014C>T c.(1012-1014)CTC>CTT p.L338L NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 338 Helical; Name=9; (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CGAGGCCTATGAGGTGCAGGG 0.622 NaN 0 0 0 0.01441 0 50 120 ELAVL4 1996 broad.mit.edu 37 1 50642818 50642818 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:50642818C>T uc001csb.2 + 3 576 c.308C>T c.(307-309)GCC>GTC p.A103V ELAVL4_uc001cry.3_Missense_Mutation_p.A106V|ELAVL4_uc001crz.3_Missense_Mutation_p.A103V|ELAVL4_uc001csa.3_Missense_Mutation_p.A120V|ELAVL4_uc001csc.3_Missense_Mutation_p.A103V|ELAVL4_uc009vyu.2_Missense_Mutation_p.A108V|ELAVL4_uc010omz.1_Missense_Mutation_p.A108V NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 103 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GCAGAGAAAGCCATCAACACT 0.343 NaN 0 0 0 0.010504 0 19 47 C1orf177 163747 broad.mit.edu 37 1 55277826 55277826 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:55277826G>C uc001cyb.3 + 6 780 c.726G>C c.(724-726)CGG>CGC p.R242R C1orf177_uc001cya.3_Silent_p.R242R NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 242 0 CTGGTGATCGGAGCAAGCCAC 0.577 NaN 0 0 0 0.004656 0 24 49 TYW3 127253 broad.mit.edu 37 1 75229767 75229767 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:75229767C>G uc001dgn.2 + 6 839 c.750C>G c.(748-750)ATC>ATG p.I250M TYW3_uc010oqw.1_Missense_Mutation_p.I217M|TYW3_uc010oqx.1_Missense_Mutation_p.I166M|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 250 tRNA processing methyltransferase activity ovary(2) 2 ATCTAGGAATCAATGTTACCA 0.348 NaN 0 0 0 0.007413 0 16 178 AGL 178 broad.mit.edu 37 1 100349714 100349714 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:100349714G>C uc001dsi.1 + 18 2747 c.2347G>C c.(2347-2349)GAG>CAG p.E783Q AGL_uc001dsj.1_Missense_Mutation_p.E783Q|AGL_uc001dsk.1_Missense_Mutation_p.E783Q|AGL_uc001dsl.1_Missense_Mutation_p.E783Q|AGL_uc001dsm.1_Missense_Mutation_p.E767Q|AGL_uc001dsn.1_Missense_Mutation_p.E766Q NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 783 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TAGAACTATTGAGAGAAACAC 0.328 NaN 0 0 0 0.007835 0 41 36 CCDC76 54482 broad.mit.edu 37 1 100613733 100613733 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:100613733G>C uc001dsv.2 + 10 1120 c.1101G>C c.(1099-1101)ATG>ATC p.M367I CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 367 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) TCCAGCGAATGAGTAGTTGGG 0.433 NaN 0 0 0 0.011902 0 44 48 AMY2A 279 broad.mit.edu 37 1 104160108 104160108 + Nonsense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:104160108C>T uc001dut.2 + 1 110 c.46C>T c.(46-48)CAG>TAG p.Q16* AMY2A_uc010ouq.1_Nonsense_Mutation_p.Q16* NM_000699 NP_000690 P04746 AMYP_HUMAN pancreatic amylase alpha 2A precursor 16 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding ovary(1)|skin(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) CTGCTGGGCTCAGTATTCCCC 0.398 NaN 0 0 0 0.01441 0 40 160 OVGP1 5016 broad.mit.edu 37 1 111966266 111966266 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:111966266G>A uc001eba.2 - 5 438 c.382C>T c.(382-384)CTG>TTG p.L128L OVGP1_uc001eaz.2_Silent_p.L90L|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Silent_p.L118L NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 128 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TGTGTCCTCAGAAGGGATATA 0.433 NaN 0 0 0 0.013114 0 47 48 ADAM30 11085 broad.mit.edu 37 1 120437228 120437228 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:120437228G>C uc001eij.2 - 1 1886 c.1732C>G c.(1732-1734)CAT>GAT p.H578D NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 578 Cys-rich.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCTGTAAATGAGTAGAAATT 0.408 NaN 0 0 0 0.01441 0 76 79 GPR89A 653519 broad.mit.edu 37 1 145771670 145771670 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:145771670C>T uc001eot.2 - 11 1144 c.970G>A c.(970-972)GAG>AAG p.E324K NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.E22K|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.E248K|GPR89A_uc010ozb.1_Missense_Mutation_p.E299K|GPR89A_uc001eos.2_Missense_Mutation_p.E204K|GPR89A_uc010ozc.1_Missense_Mutation_p.E299K|GPR89A_uc010ozd.1_Missense_Mutation_p.E271K|GPR89A_uc010oze.1_Missense_Mutation_p.E324K NM_001097612 NP_001091081 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A isoform 1 324 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ACAGTGATCTCAATGCCTCTT 0.363 NaN 0 0 0 0.003755 0 24 72 GPR89A 653519 broad.mit.edu 37 1 145771715 145771715 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:145771715C>G uc001eot.2 - 11 1099 c.925G>C c.(925-927)GTT>CTT p.V309L NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.V7L|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.V233L|GPR89A_uc010ozb.1_Missense_Mutation_p.V284L|GPR89A_uc001eos.2_Missense_Mutation_p.V189L|GPR89A_uc010ozc.1_Missense_Mutation_p.V284L|GPR89A_uc010ozd.1_Missense_Mutation_p.V256L|GPR89A_uc010oze.1_Missense_Mutation_p.V309L NM_001097612 NP_001091081 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A isoform 1 309 Helical; (Potential). intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) CGATCAAAAACAATATTGATG 0.353 NaN 0 0 0 0.005443 0 21 60 ARNT 405 broad.mit.edu 37 1 150795814 150795814 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:150795814T>C uc001evr.1 - 14 1393 c.1250A>G c.(1249-1251)AAA>AGA p.K417R ARNT_uc001evs.1_Missense_Mutation_p.K402R|ARNT_uc009wmb.1_Missense_Mutation_p.K403R|ARNT_uc009wmc.1_Missense_Mutation_p.K417R|ARNT_uc009wmd.1_Missense_Mutation_p.K402R|ARNT_uc009wme.1_Intron|ARNT_uc010pcl.1_Missense_Mutation_p.K401R NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 417 PAS 2. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GCCTTTTAATTTCACTACCTG 0.368 NaN T ETV6 AML 0 0 0 0.01441 0 69 61 C1orf56 54964 broad.mit.edu 37 1 151022921 151022921 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:151022921G>A uc001ewn.2 + 2 1078 c.1013G>A c.(1012-1014)AGA>AAA p.R338K NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 338 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGATAGACAGAAACCAGAGG 0.413 NaN 0 0 0 0.004878 0 34 133 FLG 2312 broad.mit.edu 37 1 152276031 152276031 + Silent SNP C C T rs147295587 by1000genomes TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:152276031C>T uc001ezu.1 - 3 11367 c.11331G>A c.(11329-11331)TCG>TCA p.S3777S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3777 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTATCTACCGATTGCTCGT 0.587 NaN Ichthyosis 0 0 0 0.01441 0 140 467 FLG 2312 broad.mit.edu 37 1 152277865 152277865 + Missense_Mutation SNP C C T rs145566935 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:152277865C>T uc001ezu.1 - 3 9533 c.9497G>A c.(9496-9498)CGT>CAT p.R3166H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3166 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCATTACGTGTTGTTCT 0.552 NaN Ichthyosis 0 0 0 0.01441 0 103 360 CRTC2 200186 broad.mit.edu 37 1 153920995 153920995 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:153920995G>A uc010ped.1 - 13 1870 c.1800C>T c.(1798-1800)TTC>TTT p.F600F DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Silent_p.F136F NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 600 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCTGGTGGTTGAAGGTGTGGG 0.592 NaN 0 0 0 0.01441 0 116 109 INSRR 3645 broad.mit.edu 37 1 156823546 156823546 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:156823546C>G uc010pht.1 - 2 889 c.635G>C c.(634-636)AGA>ACA p.R212T NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R212T NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 212 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGCCCACCTCTCTGGCAGTG 0.607 NaN 0 0 0 0.00874 0 35 132 CRP 1401 broad.mit.edu 37 1 159683510 159683510 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:159683510G>A uc001ftw.2 - 2 584 c.480C>T c.(478-480)TTC>TTT p.F160F CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 160 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AGTTCCCACCGAAGGAATCCT 0.517 NaN 0 0 0 0.01441 0 116 250 C1orf114 57821 broad.mit.edu 37 1 169394120 169394120 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:169394120C>T uc001gga.1 - 2 214 c.46G>A c.(46-48)GAA>AAA p.E16K C1orf114_uc001gfz.1_Missense_Mutation_p.E16K|C1orf114_uc009wvq.1_Missense_Mutation_p.E16K|C1orf114_uc001ggb.2_Missense_Mutation_p.E16K|C1orf114_uc001ggc.1_Missense_Mutation_p.E16K NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 16 0 all_hematologic(923;0.208) AAGTCATCTTCGTATTCTTCA 0.289 NaN 0 0 0 0.008871 0 17 43 F5 2153 broad.mit.edu 37 1 169511937 169511937 + Silent SNP G G C rs139113111 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:169511937G>C uc001ggg.1 - 13 2536 c.2391C>G c.(2389-2391)GCC>GCG p.A797A NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 797 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGTGAGAAGGGGCTTTCTGAG 0.433 NaN 0 0 0 0.00874 0 41 114 LAMC1 3915 broad.mit.edu 37 1 183096378 183096378 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:183096378G>A uc001gpy.3 + 17 3219 c.2962G>A c.(2962-2964)GAG>AAG p.E988K NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 988 Laminin EGF-like 11. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTCATCCTGAGGGATCTCT 0.378 NaN 0 0 0 0.001855 0 13 36 CNTN2 6900 broad.mit.edu 37 1 205042279 205042279 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:205042279C>T uc001hbr.2 + 22 3197 c.2928C>T c.(2926-2928)GAC>GAT p.D976D CNTN2_uc001hbs.2_Silent_p.D764D NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 976 Fibronectin type-III 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGCCTGAAGACATTGGCCATG 0.567 NaN 0 0 0 0.008361 0 30 40 RAB3GAP2 25782 broad.mit.edu 37 1 220364531 220364531 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:220364531G>A uc010puk.1 - 14 1530 c.1366C>T c.(1366-1368)CAG>TAG p.Q456* RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Nonsense_Mutation_p.Q36* NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 456 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CTTGGACCCTGAGAATTTCCA 0.478 NaN 0 0 0 0.00632 0 28 51 KIAA1804 84451 broad.mit.edu 37 1 233489599 233489599 + Missense_Mutation SNP C C T rs145103476 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:233489599C>T uc001hvt.3 + 3 1294 c.1033C>T c.(1033-1035)CGG>TGG p.R345W KIAA1804_uc001hvs.1_Missense_Mutation_p.R345W NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 345 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) AGTCCCCTATCGGGGCATTGA 0.507 NaN 0 0 0 0.006122 0 19 77 RYR2 6262 broad.mit.edu 37 1 237813229 237813229 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:237813229C>T uc001hyl.1 + 50 7685 c.7565C>T c.(7564-7566)ACA>ATA p.T2522I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2522 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TACCTTTGCACAGCCGTCTTG 0.463 NaN 0 0 0 0.010771 0 43 133 ZP4 57829 broad.mit.edu 37 1 238053778 238053778 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:238053778G>A uc001hym.2 - 1 158 c.158C>T c.(157-159)CCT>CTT p.P53L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 53 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) TATTAGTACAGGAGGAGACGT 0.488 NaN 0 0 0 0.013537 0 10 48 ADSS 159 broad.mit.edu 37 1 244582145 244582145 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:244582145G>C uc001iaj.2 - 9 1156 c.862C>G c.(862-864)CAA>GAA p.Q288E NM_001126 NP_001117 P30520 PURA2_HUMAN adenylosuccinate synthase 288 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(2)|kidney(1) 3 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CCAACATTTTGAGGTGGCATA 0.378 NaN 0 0 0 0.006214 0 9 31 TUBB8 347688 broad.mit.edu 37 10 93965 93965 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:93965C>G uc001ifi.2 - 4 367 c.367G>C c.(367-369)GAG>CAG p.E123Q TUBB8_uc009xhe.2_Missense_Mutation_p.E86Q|TUBB8_uc010pzs.1_Missense_Mutation_p.E51Q NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 123 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CTCTCAGCCTCCTTTCTGACA 0.597 NaN 0 0 0 0.004007 0 12 167 FRMD4A 55691 broad.mit.edu 37 10 13698803 13698803 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:13698803C>T uc001ims.2 - 22 3138 c.2786G>A c.(2785-2787)CGC>CAC p.R929H FRMD4A_uc009xjf.1_Missense_Mutation_p.R929H NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 929 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GTACCACTGGCGCAGCTCGTC 0.711 NaN 0 0 0 0.010729 0 10 72 ZNF33B 7582 broad.mit.edu 37 10 43088106 43088106 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:43088106G>A uc001jaf.1 - 5 2407 c.2292C>T c.(2290-2292)CTC>CTT p.L764L ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L652L|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 764 C2H2-type 16. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GATGTACAATGAGATTTGACT 0.393 NaN 0 0 0 0.009535 0 30 229 MYPN 84665 broad.mit.edu 37 10 69925571 69925571 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:69925571G>C uc001jnm.3 + 10 1781 c.1596G>C c.(1594-1596)GTG>GTC p.V532V MYPN_uc001jnl.1_Silent_p.V532V|MYPN_uc001jnn.3_Silent_p.V257V|MYPN_uc001jno.3_Silent_p.V532V|MYPN_uc009xps.2_Silent_p.V532V|MYPN_uc009xpt.2_Silent_p.V532V|MYPN_uc010qit.1_Silent_p.V238V|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 532 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AGCTGCACGTGAGAGGTAAGG 0.428 NaN 0 0 0 0.014323 0 18 117 DDX21 9188 broad.mit.edu 37 10 70738718 70738718 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:70738718C>G uc001jov.1 + 13 2113 c.2023C>G c.(2023-2025)CTC>GTC p.L675V DDX21_uc001jow.1_Missense_Mutation_p.L607V NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 675 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 AATGGTTTTTCTCAAAGGAAA 0.458 NaN 0 0 0 0.003755 0 32 150 USP54 159195 broad.mit.edu 37 10 75279710 75279710 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:75279710C>A uc001juo.2 - 17 2540 c.2523G>T c.(2521-2523)ACG>ACT p.T841T USP54_uc010qkk.1_Silent_p.T23T|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.T841T NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 841 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CTCTGCTGTGCGTGCTACAGC 0.378 NaN 1 0 2.56e-06 0.009096 2.61753e-06 4 45 KIAA0913 23053 broad.mit.edu 37 10 75548903 75548903 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:75548903G>A uc009xrl.2 + 3 444 c.412G>A c.(412-414)GAT>AAT p.D138N KIAA0913_uc001jve.2_Missense_Mutation_p.D138N|KIAA0913_uc001jvf.2_Missense_Mutation_p.D138N|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 138 zinc ion binding breast(1) 1 Prostate(51;0.0112) TCAGCGAGGGGATCAGCTCTT 0.567 NaN 0 0 0 0.01441 0 65 67 LRIT1 26103 broad.mit.edu 37 10 85992365 85992365 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:85992365G>C uc001kcz.1 - 4 1212 c.1190C>G c.(1189-1191)TCT>TGT p.S397C NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 397 Lumenal (Potential). integral to endoplasmic reticulum membrane 0 GCTGGGCACAGAGGGTCCAGT 0.617 NaN 0 0 0 0.004878 0 36 109 GRID1 2894 broad.mit.edu 37 10 87373287 87373287 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:87373287G>C uc001kdl.1 - 15 2579 c.2478C>G c.(2476-2478)CTC>CTG p.L826L GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.L397L NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 826 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGTGCAGCTTGAGGGATTTGC 0.647 NaN Multiple Myeloma(13;0.14) 0 0 0 0.010504 0 19 100 CH25H 9023 broad.mit.edu 37 10 90966884 90966884 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:90966884C>T uc001kfz.2 - 1 188 c.166G>A c.(166-168)GTG>ATG p.V56M NM_003956 NP_003947 O95992 CH25H_HUMAN cholesterol 25-hydroxylase 56 Helical; (Potential). bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process cytosol|endoplasmic reticulum membrane|integral to membrane cholesterol 25-hydroxylase activity|iron ion binding 0 Colorectal(252;0.0161) GBM - Glioblastoma multiforme(2;0.000133) TCCAGGACCACGAAGGGCAGG 0.632 NaN 0 0 0 0.004007 0 15 53 SLIT1 6585 broad.mit.edu 37 10 98762697 98762697 + Silent SNP G G A rs148583876 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:98762697G>A uc001kmw.2 - 35 4170 c.3918C>T c.(3916-3918)AAC>AAT p.N1306N NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1306 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGCCGGTGCCGTTGAGGATCT 0.607 NaN 0 0 0 0.01441 0 69 331 SLIT1 6585 broad.mit.edu 37 10 98823297 98823297 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:98823297G>A uc001kmw.2 - 8 960 c.708C>T c.(706-708)ATC>ATT p.I236I SLIT1_uc009xvh.1_Silent_p.I236I NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 236 LRRCT 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGAAGAGCCCGATGGTTGGCC 0.647 NaN 0 0 0 0.009535 0 28 21 PNLIPRP3 119548 broad.mit.edu 37 10 118236220 118236220 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:118236220T>C uc001lcl.3 + 11 1330 c.1229T>C c.(1228-1230)GTT>GCT p.V410A NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 410 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) GATGTTAACGTTGGAAACATT 0.358 NaN 0 0 0 0.01441 0 59 60 PNLIPRP3 119548 broad.mit.edu 37 10 118236306 118236306 + Missense_Mutation SNP A A C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:118236306A>C uc001lcl.3 + 11 1416 c.1315A>C c.(1315-1317)AAT>CAT p.N439H NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 439 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AATGGTGATAAATACATCTGG 0.308 NaN 0 0 0 0.010771 0 41 46 C11orf35 256329 broad.mit.edu 37 11 558000 558000 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:558000G>A uc001lpx.2 - 5 502 c.439C>T c.(439-441)CGC>TGC p.R147C uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 147 Potential. pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGAGCGTGCGGGTGGTCTGC 0.672 NaN 0 0 0 0.01441 0 60 63 OR52N4 390072 broad.mit.edu 37 11 5776753 5776753 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:5776753C>G uc001mbu.2 + 1 831 c.783C>G c.(781-783)TTC>TTG p.F261L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TCTTCTCCTTCTTTTCCCACC 0.478 NaN 0 0 0 0.007291 0 29 72 STK33 65975 broad.mit.edu 37 11 8457652 8457652 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:8457652C>T uc001mgi.1 - 9 1901 c.982G>A c.(982-984)GAA>AAA p.E328K STK33_uc001mgj.1_Missense_Mutation_p.E328K|STK33_uc001mgk.1_Missense_Mutation_p.E328K|STK33_uc010rbn.1_Missense_Mutation_p.E287K|STK33_uc001mgl.3_Missense_Mutation_p.E141K|STK33_uc009yfp.2_Missense_Mutation_p.E50K NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 328 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) AGCTTCTCTTCTGAGCTTGCC 0.308 NaN 0 0 0 0.008871 0 19 31 STK33 65975 broad.mit.edu 37 11 8496434 8496434 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:8496434C>G uc001mgi.1 - 1 938 c.19G>C c.(19-21)GAT>CAT p.D7H STK33_uc001mgj.1_Missense_Mutation_p.D7H|STK33_uc001mgk.1_Missense_Mutation_p.D7H|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 7 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GATTTTTTATCTAAGCCACTA 0.393 NaN 0 0 0 0.003954 0 24 57 KCNJ11 3767 broad.mit.edu 37 11 17409306 17409306 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:17409306G>A uc001mna.2 - 1 901 c.333C>T c.(331-333)GTC>GTT p.V111V KCNJ11_uc001mnb.3_Silent_p.V24V NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 111 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) GGATGCTGGTGACACAGGGCT 0.622 NaN 0 0 0 0.013726 0 32 51 QSER1 79832 broad.mit.edu 37 11 32997931 32997931 + Nonsense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:32997931C>T uc001mty.2 + 13 5386 c.5119C>T c.(5119-5121)CAA>TAA p.Q1707* QSER1_uc001mtz.1_Nonsense_Mutation_p.Q1468* NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1707 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) GGAAATTGTTCAACTTTGTAT 0.318 NaN 0 0 0 0.007413 0 19 32 ACCS 84680 broad.mit.edu 37 11 44089398 44089398 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:44089398G>A uc009yks.1 + 2 365 c.221G>A c.(220-222)TGG>TAG p.W74* ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Nonsense_Mutation_p.W74*|ACCS_uc001mxx.2_Nonsense_Mutation_p.W74* NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 74 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 AAATGGTTCTGGGATTCAGCT 0.537 NaN 0 0 0 0.004656 0 28 37 MAPK8IP1 9479 broad.mit.edu 37 11 45924153 45924153 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:45924153G>A uc001nbr.2 + 5 1005 c.835G>A c.(835-837)GAG>AAG p.E279K NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 279 JNK-binding domain (JBD). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) AGAGGCCACTGAGGAGATCTA 0.682 NaN 0 0 0 0.004289 0 37 70 HARBI1 283254 broad.mit.edu 37 11 46637415 46637415 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:46637415C>T uc001ncy.2 - 2 621 c.373G>A c.(373-375)GAA>AAA p.E125K KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank NM_173811 NP_776172 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 125 cytoplasm|nucleus metal ion binding|nuclease activity 0 ATGGAGGCTTCATCAGCTGGA 0.522 NaN 0 0 0 0.01441 0 134 230 P2RX3 5024 broad.mit.edu 37 11 57106039 57106039 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:57106039C>T uc001nju.2 + 1 91 c.15C>T c.(13-15)TCC>TCT p.S5S SSRP1_uc001njt.2_5'Flank NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 5 Cytoplasmic (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 ACTGCATATCCGACTTCTTCA 0.542 NaN 0 0 0 0.01441 0 129 273 DAGLA 747 broad.mit.edu 37 11 61487650 61487650 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:61487650G>A uc001nsa.2 + 2 134 c.23G>A c.(22-24)CGG>CAG p.R8Q NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 8 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GTGGTGTTCCGGCGGCGCTGG 0.632 NaN 0 0 0 0.01441 0 52 96 SLC22A12 116085 broad.mit.edu 37 11 64360266 64360266 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:64360266G>C uc001oam.1 + 2 1165 c.418G>C c.(418-420)GAC>CAC p.D140H SLC22A12_uc009ypr.1_Missense_Mutation_p.D140H|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D140H|SLC22A12_uc001oan.1_Missense_Mutation_p.D140H|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 140 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CCTCGTGTGTGACTCTCATGC 0.642 NaN 0 0 0 0.01441 0 96 397 CD248 57124 broad.mit.edu 37 11 66083610 66083610 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:66083610G>A uc001ohm.1 - 1 906 c.889C>T c.(889-891)CGC>TGC p.R297C NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 297 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) AAACCCAGGCGACAGTGGCAG 0.647 NaN 0 0 0 0.01441 0 61 62 RBM14 10432 broad.mit.edu 37 11 66392969 66392969 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:66392969G>A uc001oit.2 + 2 1761 c.1622G>A c.(1621-1623)CGC>CAC p.R541H RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 541 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GCCTCCTACCGCGGCCAGCCA 0.657 NaN 0 0 0 0.006122 0 14 110 RBM4 5936 broad.mit.edu 37 11 66407491 66407491 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:66407491G>A uc009yrj.2 + 2 797 c.309G>A c.(307-309)CCG>CCA p.P103P RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Silent_p.P103P|RBM4_uc001oiw.1_Silent_p.P103P|RBM4_uc001oix.1_Silent_p.P103P|RBM4_uc010rpj.1_Silent_p.P103P|RBM4_uc001oiy.1_Silent_p.P103P|RBM4_uc001oiz.1_Silent_p.P103P NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 103 RRM 2. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) AGTATGGTCCGGTCATCGAAT 0.498 NaN 0 0 0 0.01441 0 187 118 SUV420H1 51111 broad.mit.edu 37 11 67934619 67934619 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:67934619C>G uc001onm.1 - 10 1260 c.1004G>C c.(1003-1005)AGA>ACA p.R335T SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.R163T|SUV420H1_uc009ysf.2_Missense_Mutation_p.R95T|SUV420H1_uc001ono.1_Missense_Mutation_p.R335T|SUV420H1_uc001onp.2_Missense_Mutation_p.R335T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R312T|SUV420H1_uc001onq.2_Missense_Mutation_p.R335T NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CAGTCCCACTCTGGATTTAAA 0.408 NaN 0 0 0 0.006214 0 9 76 FGF3 2248 broad.mit.edu 37 11 69631101 69631101 + Missense_Mutation SNP C C T rs150581924 by1000genomes TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:69631101C>T uc001oph.2 - 2 802 c.311G>A c.(310-312)CGA>CAA p.R104Q NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 104 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) AGCATAGAGTCGTCCCCTCTT 0.597 NaN 0 0 0 0.01441 0 62 888 USP35 57558 broad.mit.edu 37 11 77907438 77907438 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:77907438C>T uc009yva.1 + 2 393 c.147C>T c.(145-147)TAC>TAT p.Y49Y USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Translation_Start_Site|USP35_uc001ozf.2_5'Flank NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 49 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CGCGCCTCTACGTGGGCGGCG 0.766 NaN 0 0 0 0.006214 0 8 57 MRE11A 4361 broad.mit.edu 37 11 94194101 94194101 + Splice_Site SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:94194101C>G uc001peu.2 - 12 1515 c.1326_splice c.e12+1 p.K442_splice MRE11A_uc001pev.2_Splice_Site_p.K442_splice|MRE11A_uc009ywj.2_Splice_Site_p.K445_splice NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TAAGAAATTACCTTCTCTGCG 0.318 NaN Homologous_recombination Ataxia-Telangiectasia-Like_Disorder 0 0 0 0.001984 0 7 15 EXPH5 23086 broad.mit.edu 37 11 108384189 108384189 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:108384189G>A uc001pkk.2 - 6 2156 c.2045C>T c.(2044-2046)TCT>TTT p.S682F EXPH5_uc010rvy.1_Missense_Mutation_p.S494F|EXPH5_uc010rvz.1_Missense_Mutation_p.S526F|EXPH5_uc010rwa.1_Missense_Mutation_p.S606F NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 682 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AAGAGGCAGAGAGTCAACTGA 0.413 NaN 0 0 0 0.013726 0 32 45 TECTA 7007 broad.mit.edu 37 11 121008294 121008294 + Missense_Mutation SNP T T G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:121008294T>G uc010rzo.1 + 10 3106 c.3106T>G c.(3106-3108)TGT>GGT p.C1036G NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1036 TIL 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCGGAGTGAGTGTGGCTGCAA 0.572 NaN 0 0 0 0.008871 0 17 32 EFCAB4B 84766 broad.mit.edu 37 12 3806003 3806003 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:3806003C>A uc001qmj.2 - 4 735 c.163G>T c.(163-165)GCA>TCA p.A55S EFCAB4B_uc010sen.1_Missense_Mutation_p.A55S|EFCAB4B_uc010seo.1_Missense_Mutation_p.A55S NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 55 EF-hand 1. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) AACTCCTGTGCCTTCCTCAGC 0.597 NaN 1 0 0.000175454 0.010504 0.000177404 18 82 ANO2 57101 broad.mit.edu 37 12 5848494 5848494 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:5848494C>T uc001qnm.2 - 13 1483 c.1411G>A c.(1411-1413)GAA>AAA p.E471K NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 476 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 TCTTCCTCTTCTATGCCAGTC 0.433 NaN 0 0 0 0.004672 0 3 13 A2ML1 144568 broad.mit.edu 37 12 9004565 9004565 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:9004565G>A uc001quz.3 + 19 2518 c.2420G>A c.(2419-2421)CGT>CAT p.R807H A2ML1_uc001qva.1_Missense_Mutation_p.R387H|A2ML1_uc010sgm.1_Missense_Mutation_p.R307H NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 651 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GAATCCTTTCGTCTTACTGCC 0.507 NaN 0 0 0 0.007835 0 41 173 ETV6 2120 broad.mit.edu 37 12 12022825 12022825 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:12022825G>A uc001qzz.2 + 5 1205 c.931G>A c.(931-933)GAC>AAC p.D311N ETV6_uc001raa.1_Missense_Mutation_p.D104N NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 311 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TCATCGGGAAGACCTGGCTTA 0.582 NaN T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 0 0 0 0.01441 0 81 116 ETV6 2120 broad.mit.edu 37 12 12022873 12022873 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:12022873G>C uc001qzz.2 + 5 1253 c.979G>C c.(979-981)GAG>CAG p.E327Q ETV6_uc001raa.1_Missense_Mutation_p.E120Q NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 327 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCCGCCTGAAGAGCACGCCAT 0.582 NaN T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 0 0 0 0.01441 0 68 86 LOH12CR1 118426 broad.mit.edu 37 12 12514236 12514236 + Missense_Mutation SNP A A T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:12514236A>T uc001ral.2 + 2 521 c.155A>T c.(154-156)GAT>GTT p.D52V LOH12CR1_uc009zhu.2_Intron NM_058169 NP_477517 Q969J3 L12R1_HUMAN LOH1CR12 52 ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) AACGATCCCGATGTCATCAAG 0.488 NaN 0 0 0 0.012213 0 35 230 GALNT6 11226 broad.mit.edu 37 12 51757940 51757940 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:51757940C>T uc001ryk.2 - 5 1239 c.1014G>A c.(1012-1014)GAG>GAA p.E338E GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.E338E NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 338 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GCCTCTGCTTCTCATGTGGAG 0.587 NaN 0 0 0 0.01441 0 64 105 OR6C6 283365 broad.mit.edu 37 12 55688992 55688992 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:55688992C>G uc010sph.1 - 1 25 c.25G>C c.(25-27)GAG>CAG p.E9Q NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 AGAATGAACTCTATTTCCATT 0.318 NaN 0 0 0 0.014323 0 19 46 MBD6 114785 broad.mit.edu 37 12 57921371 57921371 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:57921371C>G uc001soj.1 + 8 2388 c.2164C>G c.(2164-2166)CTG>GTG p.L722V MBD6_uc001sok.1_Missense_Mutation_p.L589V|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 722 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 GGCCTCCTCTCTGGGCAAGGC 0.597 NaN 0 0 0 0.01441 0 218 346 MON2 23041 broad.mit.edu 37 12 62929388 62929388 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:62929388C>T uc001sre.2 + 14 2190 c.1799C>T c.(1798-1800)TCA>TTA p.S600L MON2_uc009zqj.2_Missense_Mutation_p.S600L|MON2_uc010ssl.1_Missense_Mutation_p.S528L|MON2_uc010ssm.1_Missense_Mutation_p.S600L|MON2_uc010ssn.1_Missense_Mutation_p.S600L|MON2_uc001srf.2_Missense_Mutation_p.S363L NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 600 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CTTGTAACTTCAAGAGATGCC 0.413 NaN 0 0 0 0.01441 0 55 63 EEA1 8411 broad.mit.edu 37 12 93258690 93258690 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:93258690T>C uc001tck.2 - 3 456 c.191A>G c.(190-192)CAT>CGT p.H64R NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 64 C2H2-type. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 ACCAGCATCATGAACAGCTTC 0.378 NaN 0 0 0 0.010818 0 33 61 C12orf63 374467 broad.mit.edu 37 12 97051735 97051735 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:97051735C>G uc001tet.1 + 4 529 c.451C>G c.(451-453)CTT>GTT p.L151V NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 151 skin(6)|ovary(1) 7 TGGTTCTAGTCTTACCTTTGA 0.353 NaN 0 0 0 0.007835 0 38 145 C12orf63 374467 broad.mit.edu 37 12 97051869 97051869 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:97051869C>T uc001tet.1 + 4 663 c.585C>T c.(583-585)TTC>TTT p.F195F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 195 skin(6)|ovary(1) 7 CCATTCAGTTCAATACAGTTT 0.303 NaN 0 0 0 0.010729 0 10 50 PAH 5053 broad.mit.edu 37 12 103288533 103288533 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:103288533C>T uc001tjq.1 - 4 804 c.332G>A c.(331-333)CGA>CAA p.R111Q PAH_uc010swc.1_Missense_Mutation_p.R111Q NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 111 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CTTCTTATCTCGTGAAAGCTC 0.383 NaN 0 0 0 0.006122 0 18 67 PRDM4 11108 broad.mit.edu 37 12 108147715 108147715 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:108147715C>G uc001tmp.2 - 4 754 c.317G>C c.(316-318)AGA>ACA p.R106T PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 106 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TAGAATGGTTCTGAAATAACT 0.433 NaN 0 0 0 0.011902 0 42 68 ACAD10 80724 broad.mit.edu 37 12 112182844 112182844 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:112182844C>T uc001tsq.2 + 13 2312 c.2112C>T c.(2110-2112)CTC>CTT p.L704L ACAD10_uc001tsp.2_Silent_p.L704L|ACAD10_uc009zvx.2_Silent_p.L735L|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 704 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TCGAAGACCTCAAGGTAAAGC 0.592 NaN 0 0 0 0.00632 0 29 84 C12orf51 283450 broad.mit.edu 37 12 112681690 112681690 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:112681690C>T uc009zwc.2 - 23 3389 c.3371G>A c.(3370-3372)AGA>AAA p.R1124K NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CTGATTTGCTCTAGTAAATTC 0.458 NaN 0 0 0 0.01441 0 47 171 C12orf51 283450 broad.mit.edu 37 12 112685315 112685315 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:112685315C>T uc009zwc.2 - 21 3040 c.3022G>A c.(3022-3024)GAA>AAA p.E1008K NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AAGGAGACTTCCTTCATTGAA 0.318 NaN 0 0 0 0.001168 0 4 7 TPCN1 53373 broad.mit.edu 37 12 113705698 113705698 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:113705698C>T uc001tuw.2 + 5 762 c.465C>T c.(463-465)CTC>CTT p.L155L TPCN1_uc001tux.2_Silent_p.L227L|TPCN1_uc010syt.1_Silent_p.L87L NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 155 Helical; Name=S2 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TGTTTGAACTCTGCATGAAGT 0.607 NaN 0 0 0 0.016522 0 23 37 UBC 7316 broad.mit.edu 37 12 125396365 125396365 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:125396365C>T uc001ugs.3 - 2 2401 c.1953G>A c.(1951-1953)TTG>TTA p.L651L UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Silent_p.L575L|UBC_uc001ugt.2_Silent_p.L499L|UBC_uc001ugv.2_Silent_p.L119L NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 651 Ubiquitin-like 9. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CAGCAAAGATCAACCTCTGCT 0.537 NaN 0 0 0 0.01441 0 123 477 DHX37 57647 broad.mit.edu 37 12 125461982 125461982 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:125461982C>T uc001ugy.2 - 5 892 c.793G>A c.(793-795)GTG>ATG p.V265M NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 265 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGCTCGGCCACAGCCTCCATG 0.552 NaN 0 0 0 0.01441 0 148 144 SFRS8 6433 broad.mit.edu 37 12 132203998 132203998 + Splice_Site SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:132203998G>C uc001uja.1 + 4 661 c.521_splice c.e4-1 p.E174_splice SFRS8_uc010tbn.1_Splice_Site_p.E174_splice|SFRS8_uc001ujb.1_Splice_Site|SFRS8_uc001uiz.1_Splice_Site_p.E48_splice NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) TTTTTATGCAGAAAAAAATGA 0.468 NaN 0 0 0 0.01441 0 52 81 EP400 57634 broad.mit.edu 37 12 132502160 132502160 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:132502160C>T uc001ujn.2 + 19 4039 c.4004C>T c.(4003-4005)CCT>CTT p.P1335L EP400_uc001ujl.2_Missense_Mutation_p.P1334L|EP400_uc001ujm.2_Missense_Mutation_p.P1335L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1371 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGCAACCACCCTGGGCTCGTC 0.607 NaN 0 0 0 0.01441 0 95 141 POLE 5426 broad.mit.edu 37 12 133218793 133218793 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:133218793C>T uc001uks.1 - 38 5187 c.5143G>A c.(5143-5145)GAG>AAG p.E1715K POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519K|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1715 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTGTTGATCTCAACAGTGGCT 0.557 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 96 113 POLE 5426 broad.mit.edu 37 12 133219161 133219161 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:133219161C>G uc001uks.1 - 37 4927 c.4883G>C c.(4882-4884)GGA>GCA p.G1628A POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.G432A|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1628 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCGCCGGGCTCCATGGCGCTG 0.582 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 69 86 FLT1 2321 broad.mit.edu 37 13 29008208 29008208 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:29008208G>C uc001usb.3 - 5 948 c.663C>G c.(661-663)CTC>CTG p.L221L FLT1_uc010aar.1_Silent_p.L221L|FLT1_uc001usc.3_Silent_p.L221L|FLT1_uc010tdp.1_Silent_p.L221L NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 221 Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTCGATGTGTGAGATAGTTTG 0.353 NaN 0 0 0 0.006122 0 18 66 FREM2 341640 broad.mit.edu 37 13 39425843 39425843 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:39425843G>A uc001uwv.2 + 11 7072 c.6763G>A c.(6763-6765)GAA>AAA p.E2255K FREM2_uc001uww.2_Missense_Mutation_p.E341K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2255 Extracellular (Potential).|Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TAAATTTGGAGAAACCAAATT 0.284 NaN 0 0 0 0.007291 0 30 31 FREM2 341640 broad.mit.edu 37 13 39425946 39425946 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:39425946G>C uc001uwv.2 + 11 7175 c.6866G>C c.(6865-6867)AGA>ACA p.R2289T FREM2_uc001uww.2_Missense_Mutation_p.R375T NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2289 Extracellular (Potential).|Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCCATTGTGAGAGTCCACACC 0.512 NaN 0 0 0 0.005524 0 36 39 MTRF1 9617 broad.mit.edu 37 13 41791298 41791298 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:41791298C>G uc001uxx.2 - 12 1761 c.1291G>C c.(1291-1293)GAA>CAA p.E431Q MTRF1_uc001uxy.2_Missense_Mutation_p.E431Q|MTRF1_uc001uxz.2_Missense_Mutation_p.E267Q|MTRF1_uc010tff.1_3'UTR|uc001uxv.1_Intron|uc001uya.1_5'Flank|uc001uyb.2_5'Flank NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 431 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) GCAATGGCTTCTTCATCTGCT 0.338 NaN 0 0 0 0.015359 0 26 71 OLFM4 10562 broad.mit.edu 37 13 53624505 53624505 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:53624505G>A uc001vhl.2 + 5 1132 c.1132G>A c.(1132-1134)GTT>ATT p.V378I OLFM4_uc001vhk.1_3'UTR NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 378 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ATATGCTAATGTTGCTTGGCA 0.418 NaN 0 0 0 0.01441 0 48 170 IRS2 8660 broad.mit.edu 37 13 110435067 110435067 + Nonsense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:110435067C>A uc001vqv.2 - 1 3848 c.3334G>T c.(3334-3336)GAG>TAG p.E1112* NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1112 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) GACACCTGCTCCATGAGGCTC 0.751 NaN 1 0 0.00198382 0.001984 0.00200141 5 26 LRFN5 145581 broad.mit.edu 37 14 42368155 42368155 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:42368155G>A uc001wvm.2 + 5 3332 c.2134G>A c.(2134-2136)GAA>AAA p.E712K LRFN5_uc010ana.2_3'UTR NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 712 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATTGTCCAGGAAACACAGGT 0.279 NaN HNSCC(30;0.082) 0 0 0 0.01441 0 46 36 PTGDR 5729 broad.mit.edu 37 14 52735275 52735275 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:52735275C>T uc001wzq.2 + 1 845 c.743C>T c.(742-744)GCG>GTG p.A248V NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 248 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GAGCCGCGCGCGGACGGGAGG 0.677 NaN 0 0 0 0.01441 0 75 180 FERMT2 10979 broad.mit.edu 37 14 53342019 53342019 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:53342019G>C uc001xad.2 - 8 1075 c.1020C>G c.(1018-1020)GAC>GAG p.D340E FERMT2_uc001xac.2_Missense_Mutation_p.D340E|FERMT2_uc001xae.2_Missense_Mutation_p.D340E|FERMT2_uc001xaf.2_Missense_Mutation_p.D340E NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 340 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) CAACTTCTTTGTCACTGTTGT 0.333 NaN 0 0 0 0.01441 0 50 57 FERMT2 10979 broad.mit.edu 37 14 53342072 53342072 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:53342072G>C uc001xad.2 - 8 1022 c.967C>G c.(967-969)CAT>GAT p.H323D FERMT2_uc001xac.2_Missense_Mutation_p.H323D|FERMT2_uc001xae.2_Missense_Mutation_p.H323D|FERMT2_uc001xaf.2_Missense_Mutation_p.H323D NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 323 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) TTATTGATATGATACTGAAAC 0.308 NaN 0 0 0 0.009535 0 32 52 WDHD1 11169 broad.mit.edu 37 14 55457948 55457948 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:55457948G>C uc001xbm.1 - 12 1402 c.1324C>G c.(1324-1326)CTC>GTC p.L442V WDHD1_uc010aom.1_Missense_Mutation_p.I20M|WDHD1_uc001xbn.1_Missense_Mutation_p.L319V NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 442 cytoplasm|nucleoplasm DNA binding skin(1) 1 CTGTGAGTGAGATGCAACGGT 0.388 NaN 0 0 0 0.014323 0 20 24 COQ6 51004 broad.mit.edu 37 14 74428598 74428598 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:74428598C>G uc001xph.2 + 11 1449 c.1369C>G c.(1369-1371)CCA>GCA p.P457A ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.P382A|COQ6_uc001xpf.2_Missense_Mutation_p.P382A|COQ6_uc010tuk.1_Missense_Mutation_p.P432A|COQ6_uc001xpg.2_Intron NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 457 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) TGCAGTGTCTCCACTCAAAGT 0.373 NaN 0 0 0 0.01441 0 108 107 LTBP2 4053 broad.mit.edu 37 14 75017934 75017934 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:75017934C>T uc001xqa.2 - 7 1906 c.1519G>A c.(1519-1521)GTG>ATG p.V507M NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 507 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTGGTCTCCACGCTGTTCTCC 0.682 NaN 0 0 0 0.013537 0 13 16 C14orf4 64207 broad.mit.edu 37 14 77492772 77492772 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:77492772G>A uc001xsy.2 - 1 2263 c.1364C>T c.(1363-1365)TCG>TTG p.S455L NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 455 nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) CTTGAAACCCGAGGATAGGCC 0.612 NaN 0 0 0 0.01441 0 57 61 PTPN21 11099 broad.mit.edu 37 14 88938710 88938710 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:88938710G>A uc001xwv.3 - 15 3080 c.2749C>T c.(2749-2751)CGA>TGA p.R917* PTPN21_uc010twc.1_Nonsense_Mutation_p.R713* NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 917 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TCAGGGAGTCGTGCTGTTGAG 0.393 NaN 0 0 0 0.001855 0 12 39 BTBD7 55727 broad.mit.edu 37 14 93760396 93760396 + Missense_Mutation SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr14:93760396A>G uc001ybo.2 - 3 1296 c.970T>C c.(970-972)TAT>CAT p.Y324H BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.Y239H|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.Y239H|BTBD7_uc001ybr.2_Missense_Mutation_p.Y324H NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 324 BTB 2. pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACTGTTGCATATTTTTTTGGT 0.418 NaN 0 0 0 0.004007 0 17 44 OR4N4 283694 broad.mit.edu 37 15 22383192 22383192 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:22383192C>T uc001yuc.1 + 7 1701 c.720C>T c.(718-720)TGC>TGT p.C240C LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.C240C NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTCCACGTGCACCACTCGTG 0.493 NaN 0 0 0 0.00632 0 26 189 IVD 3712 broad.mit.edu 37 15 40703469 40703469 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:40703469G>A uc001zls.3 + 5 810 c.476G>A c.(475-477)GGT>GAT p.G159D IVD_uc001zlq.2_Missense_Mutation_p.G129D NM_002225 NP_002216 P26440 IVD_HUMAN isovaleryl Coenzyme A dehydrogenase isoform 1 156 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) CTGATCAGTGGTGAGTACATC 0.517 NaN 0 0 0 0.01441 0 278 328 TTBK2 146057 broad.mit.edu 37 15 43044889 43044889 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:43044889G>A uc001zqo.2 - 14 2994 c.2555C>T c.(2554-2556)TCA>TTA p.S852L TTBK2_uc010bcy.2_Missense_Mutation_p.S783L NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 852 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGAAATTTCTGAAGTTCCAAC 0.373 NaN 0 0 0 0.01441 0 56 64 MYO5A 4644 broad.mit.edu 37 15 52672022 52672022 + Nonsense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:52672022G>C uc002aby.2 - 17 2340 c.2096C>G c.(2095-2097)TCA>TGA p.S699* MYO5A_uc002abx.3_Nonsense_Mutation_p.S699*|MYO5A_uc010uge.1_Nonsense_Mutation_p.S568* NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 699 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GGCTCACCGTGAGGGGAAACC 0.448 NaN 0 0 0 0.005443 0 25 122 LIPC 3990 broad.mit.edu 37 15 58834842 58834842 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:58834842G>A uc010bga.1 + 6 1174 c.566G>A c.(565-567)AGA>AAA p.R189K LIPC_uc010bfz.1_Missense_Mutation_p.R189K|LIPC_uc002afa.1_Missense_Mutation_p.R189K|LIPC_uc010bgb.1_Missense_Mutation_p.R87K|LIPC_uc010ugy.1_Missense_Mutation_p.R128K NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 189 Heparin-binding (Potential). cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AAGATTGGGAGAATCACAGGT 0.498 NaN 0 0 0 0.004289 0 37 111 ADAMTSL3 57188 broad.mit.edu 37 15 84611709 84611709 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:84611709C>T uc002bjz.3 + 19 2589 c.2365C>T c.(2365-2367)CTG>TTG p.L789L ADAMTSL3_uc010bmt.1_Silent_p.L789L|ADAMTSL3_uc010bmu.1_Silent_p.L789L NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 789 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGTCGGCAGCTGCTAACGGA 0.547 NaN 0 0 0 0.004482 0 9 43 AGBL1 123624 broad.mit.edu 37 15 86940646 86940646 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:86940646C>A uc002blz.1 + 17 2366 c.2286C>A c.(2284-2286)AGC>AGA p.S762R NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 762 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 CAGGAGAGAGCAATGCCAGTT 0.453 NaN 1 0 4.93089e-13 0.00245 5.18142e-13 14 39 NTRK3 4916 broad.mit.edu 37 15 88678348 88678348 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:88678348G>A uc002bme.1 - 9 1350 c.1188C>T c.(1186-1188)CTC>CTT p.L396L NTRK3_uc002bmh.2_Silent_p.L396L|NTRK3_uc002bmf.1_Silent_p.L396L|NTRK3_uc010upl.1_Silent_p.L298L|NTRK3_uc010bnh.1_Silent_p.L396L|NTRK3_uc002bmg.2_Silent_p.L396L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 396 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) AGGGCTCCTTGAGGAAGTGGC 0.527 NaN T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 0 0 0 0.010818 0 30 101 MEF2A 4205 broad.mit.edu 37 15 100230446 100230446 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr15:100230446G>A uc010urw.1 + 7 1036 c.677G>A c.(676-678)GGG>GAG p.G226E MEF2A_uc010urv.1_Missense_Mutation_p.G156E|MEF2A_uc010bos.2_Missense_Mutation_p.G224E|MEF2A_uc002bvf.2_Missense_Mutation_p.G226E|MEF2A_uc002bve.2_Missense_Mutation_p.G224E|MEF2A_uc002bvg.2_Missense_Mutation_p.G224E|MEF2A_uc002bvi.2_Missense_Mutation_p.G224E|MEF2A_uc010bot.2_Missense_Mutation_p.G156E NM_005587 NP_005578 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A isoform 1 226 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|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|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding ovary(1) 1 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TTCCCCCCAGGGAATGGATTT 0.383 NaN 0 0 0 0.009096 0 4 22 HCFC1R1 54985 broad.mit.edu 37 16 3073334 3073334 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:3073334C>G uc002csx.1 - 4 314 c.181G>C c.(181-183)GAG>CAG p.E61Q HCFC1R1_uc002csy.1_Missense_Mutation_p.E61Q|HCFC1R1_uc002csz.1_Missense_Mutation_p.E42Q|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank NM_001002018 NP_001002018 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependant) 61 cytoplasm|nucleus 0 ATGTTCTCCTCAGACAGAAAC 0.617 NaN 0 0 0 0.01441 0 94 267 ZNF75A 7627 broad.mit.edu 37 16 3367835 3367835 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:3367835C>T uc002cut.3 + 6 1383 c.857C>T c.(856-858)TCA>TTA p.S286L ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 286 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 AGCAGGCGGTCAAGCCTTCTT 0.453 NaN 0 0 0 0.01441 0 59 42 ZNF500 26048 broad.mit.edu 37 16 4802759 4802759 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:4802759T>C uc002cxp.1 - 6 1308 c.1061A>G c.(1060-1062)AAG>AGG p.K354R ZNF500_uc002cxo.1_Missense_Mutation_p.K146R|ZNF500_uc010uxt.1_Missense_Mutation_p.K354R NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 354 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GACTAGGCACTTGTAAGGCCG 0.622 NaN 0 0 0 0.01441 0 111 117 ITPRIPL2 162073 broad.mit.edu 37 16 19125972 19125972 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:19125972C>A uc002dfu.3 + 1 719 c.189C>A c.(187-189)CTC>CTA p.L63L ITPRIPL2_uc002dft.2_5'UTR NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 63 Helical; (Potential). integral to membrane skin(2) 2 GCTATGTCCTCCTGCGCTGTC 0.721 NaN 1 0 0.00448238 0.004482 0.00451213 8 55 RABEP2 79874 broad.mit.edu 37 16 28925598 28925598 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:28925598G>A uc002drq.2 - 5 901 c.853C>T c.(853-855)CAG>TAG p.Q285* uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q214*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q285*|RABEP2_uc002drr.2_Nonsense_Mutation_p.Q285* NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 285 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 GGGACGAGCTGGTAGCCAGGA 0.652 NaN 0 0 0 0.004656 0 26 82 HIRIP3 8479 broad.mit.edu 37 16 30004529 30004529 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:30004529C>T uc002dve.2 - 7 2131 c.1670G>A c.(1669-1671)TGA>TAA p.*557* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|HIRIP3_uc002dvf.2_3'UTR NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 557 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 TGGCAGAGCTCAGTTACTCTC 0.567 NaN 0 0 0 0.01441 0 69 58 MT1H 4496 broad.mit.edu 37 16 56703818 56703818 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:56703818G>A uc002ejw.2 + 1 93 c.22G>A c.(22-24)GAG>AAG p.E8K MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank NM_005951 NP_005942 P80294 MT1H_HUMAN metallothionein 1H 8 Beta. metal ion binding|protein binding 0 CTGCTCCTGCGAGGCTGGTAA 0.567 NaN 0 0 0 0.01441 0 69 277 NDRG4 65009 broad.mit.edu 37 16 58538305 58538305 + Silent SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:58538305C>G uc002eno.2 + 4 397 c.291C>G c.(289-291)CCC>CCG p.P97P NDRG4_uc002enk.2_Silent_p.P129P|NDRG4_uc002enm.2_Silent_p.P149P|NDRG4_uc010vif.1_Silent_p.P129P|NDRG4_uc010cdk.2_Silent_p.P115P|NDRG4_uc010vig.1_Silent_p.P127P|NDRG4_uc010vih.1_Silent_p.P42P|NDRG4_uc010vii.1_Silent_p.P115P|NDRG4_uc002enp.2_Silent_p.P97P|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 97 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 CCATGCTCCCCAGCGTGGTGC 0.677 NaN 0 0 0 0.01441 0 216 214 FAM65A 79567 broad.mit.edu 37 16 67574554 67574554 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:67574554G>C uc010vjp.1 + 10 904 c.808G>C c.(808-810)GAC>CAC p.D270H FAM65A_uc010cei.1_Missense_Mutation_p.D92H|FAM65A_uc002eth.2_Missense_Mutation_p.D250H|FAM65A_uc010cej.2_Missense_Mutation_p.D253H|FAM65A_uc002eti.1_Missense_Mutation_p.D213H|FAM65A_uc010vjq.1_Missense_Mutation_p.D264H|FAM65A_uc002etj.1_Missense_Mutation_p.D249H|FAM65A_uc002etk.2_Missense_Mutation_p.D249H NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 254 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GCAGGTGTGGGACAGTGAAGA 0.547 NaN 0 0 0 0.01441 0 193 174 ESRP2 80004 broad.mit.edu 37 16 68266170 68266170 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:68266170C>G uc010cfa.1 - 9 1194 c.1006G>C c.(1006-1008)GAG>CAG p.E336Q ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.E326Q NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 336 RRM 1. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 TTTACAAACTCCTCCCCTGTC 0.582 NaN 0 0 0 0.01441 0 56 70 SLC7A6OS 84138 broad.mit.edu 37 16 68335260 68335260 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:68335260C>G uc002evw.1 - 5 867 c.848G>C c.(847-849)AGA>ACA p.R283T SLC7A6_uc002evt.1_3'UTR|SLC7A6_uc002evu.1_3'UTR|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 283 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) CATCCGCTGTCTGCTGCTGCC 0.522 NaN 0 0 0 0.01441 0 73 79 PKD1L2 114780 broad.mit.edu 37 16 81241228 81241228 + Missense_Mutation SNP A A T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:81241228A>T uc002fgh.1 - 5 773 c.773T>A c.(772-774)ATG>AAG p.M258K PKD1L2_uc002fgj.2_Missense_Mutation_p.M258K NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 258 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACTGGACACCATCAGCTGCAG 0.443 NaN 0 0 0 0.01441 0 65 85 TSR1 55720 broad.mit.edu 37 17 2237950 2237950 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:2237950T>C uc002fuj.2 - 5 1754 c.797A>G c.(796-798)AAT>AGT p.N266S SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 266 ribosome assembly nucleolus protein binding ovary(1) 1 CACCAAGTTATTCTCTTCACT 0.458 NaN 0 0 0 0.01441 0 104 311 ZNF624 57547 broad.mit.edu 37 17 16526354 16526354 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526354C>T uc010cpi.1 - 6 1929 c.1846G>A c.(1846-1848)GAC>AAC p.D616N NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 616 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CTCTCGCAGTCAGTACATTTA 0.383 NaN 0 0 0 0.01441 0 161 197 ZNF624 57547 broad.mit.edu 37 17 16526391 16526391 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526391C>G uc010cpi.1 - 6 1892 c.1809G>C c.(1807-1809)CAG>CAC p.Q603H NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 603 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGTGAATTCTCTGATGTACAG 0.378 NaN 0 0 0 0.01441 0 149 164 ZNF624 57547 broad.mit.edu 37 17 16526600 16526600 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526600C>T uc010cpi.1 - 6 1683 c.1600G>A c.(1600-1602)GGG>AGG p.G534R NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 534 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AATGCTTTCCCACATTCATTA 0.383 NaN 0 0 0 0.01441 0 92 87 ZNF624 57547 broad.mit.edu 37 17 16526725 16526725 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526725C>T uc010cpi.1 - 6 1558 c.1475G>A c.(1474-1476)AGA>AAA p.R492K NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 492 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGTGTGAGTTCTTATATGTAC 0.383 NaN 0 0 0 0.01441 0 81 92 ZNF624 57547 broad.mit.edu 37 17 16526782 16526782 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526782C>G uc010cpi.1 - 6 1501 c.1418G>C c.(1417-1419)AGA>ACA p.R473T NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 473 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTCGTTACATCTAAAAGGTTT 0.373 NaN 0 0 0 0.01441 0 68 69 ZNF624 57547 broad.mit.edu 37 17 16526838 16526838 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526838C>G uc010cpi.1 - 6 1445 c.1362G>C c.(1360-1362)AAG>AAC p.K454N NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 454 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTGTGGTATTCTTAAAAGACT 0.383 NaN 0 0 0 0.01441 0 56 67 ZNF624 57547 broad.mit.edu 37 17 16526858 16526858 + Missense_Mutation SNP C C T rs138787716 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526858C>T uc010cpi.1 - 6 1425 c.1342G>A c.(1342-1344)GAG>AAG p.E448K NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 448 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTCCCACACTCGTTGCACTGA 0.388 NaN 0 0 0 0.01441 0 55 71 ZNF624 57547 broad.mit.edu 37 17 16526922 16526922 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526922C>T uc010cpi.1 - 6 1361 c.1278G>A c.(1276-1278)AGG>AGA p.R426R NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 426 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATGACTTGTTCCTAAAGGCTT 0.388 NaN 0 0 0 0.01441 0 61 66 ZNF624 57547 broad.mit.edu 37 17 16526945 16526945 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526945C>G uc010cpi.1 - 6 1338 c.1255G>C c.(1255-1257)GAT>CAT p.D419H NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 419 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCACAATCATCACATTTGTAG 0.403 NaN 0 0 0 0.01441 0 59 69 ZNF624 57547 broad.mit.edu 37 17 16526963 16526963 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16526963C>T uc010cpi.1 - 6 1320 c.1237G>A c.(1237-1239)GAG>AAG p.E413K NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TAGGGTTTCTCACCATTGTGA 0.388 NaN 0 0 0 0.01441 0 58 71 ZNF624 57547 broad.mit.edu 37 17 16527313 16527313 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527313C>G uc010cpi.1 - 6 970 c.887G>C c.(886-888)AGA>ACA p.R296T NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 296 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGTATGAGTTCTTTGATGTTG 0.348 NaN 0 0 0 0.01441 0 90 65 ZNF624 57547 broad.mit.edu 37 17 16527465 16527465 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527465C>G uc010cpi.1 - 6 818 c.735G>C c.(733-735)AAG>AAC p.K245N NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGCAAATTATCTTCCCCAAAT 0.383 NaN 0 0 0 0.01441 0 100 101 ZNF624 57547 broad.mit.edu 37 17 16527501 16527501 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527501C>G uc010cpi.1 - 6 782 c.699G>C c.(697-699)GAG>GAC p.E233D NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AATTTAAATTCTCTGTGAAAT 0.393 NaN 0 0 0 0.01441 0 82 91 ZNF624 57547 broad.mit.edu 37 17 16527670 16527670 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527670C>G uc010cpi.1 - 6 613 c.530G>C c.(529-531)AGA>ACA p.R177T NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATTTTGTAATCTCAATATCCT 0.358 NaN 0 0 0 0.01441 0 83 72 ZNF624 57547 broad.mit.edu 37 17 16527693 16527693 + Nonsense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527693C>T uc010cpi.1 - 6 590 c.507G>A c.(505-507)TGG>TGA p.W169* NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CATTCCATTTCCATAACCCTT 0.383 NaN 0 0 0 0.01441 0 90 85 ZNF624 57547 broad.mit.edu 37 17 16527709 16527709 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527709C>T uc010cpi.1 - 6 574 c.491G>A c.(490-492)AGA>AAA p.R164K NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCCTTCCATTCTGGAATCCCA 0.393 NaN 0 0 0 0.01441 0 85 97 ZNF624 57547 broad.mit.edu 37 17 16527767 16527767 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:16527767C>T uc010cpi.1 - 6 516 c.433G>A c.(433-435)GAT>AAT p.D145N NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGTGATAAATCTTCAGAAATA 0.408 NaN 0 0 0 0.01441 0 85 88 MYO15A 51168 broad.mit.edu 37 17 18022918 18022918 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:18022918C>A uc010vxh.1 + 2 1142 c.804C>A c.(802-804)AGC>AGA p.S268R NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 268 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCCCCTACAGCCCGGCCTGGC 0.642 NaN 1 0 1.59438e-142 0.01441 1.74806e-142 272 39 ERBB2 2064 broad.mit.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G A rs121913468 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:37880261G>A uc002hso.2 + 19 2543 c.2305G>A c.(2305-2307)GAC>AAC p.D769N ERBB2_uc002hsm.2_Missense_Mutation_p.D739N|ERBB2_uc010cwa.2_Missense_Mutation_p.D754N|ERBB2_uc002hsp.2_Missense_Mutation_p.D572N|ERBB2_uc010cwb.2_Missense_Mutation_p.D769N|ERBB2_uc010wek.1_Missense_Mutation_p.D493N NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 769 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.D769H(3) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGAAATCTTAGACGTAAGCCC 0.532 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.01441 0 256 18 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:39261731G>A uc010wfp.1 + 1 91 c.91G>A c.(91-93)GAG>AAG p.E31K NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 31 2.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament 0 CAGCTGCTGTGAGACCACCTG 0.637 NaN 0 0 0 0.01441 0 52 19 KAT2A 2648 broad.mit.edu 37 17 40265828 40265828 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:40265828G>A uc002hyx.2 - 18 2413 c.2353C>T c.(2353-2355)CGC>TGC p.R785C DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 785 Bromo. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 ACGTAGTAGCGGCTTCGCAGC 0.632 NaN 0 0 0 0.008871 0 20 56 TLK2 11011 broad.mit.edu 37 17 60655841 60655841 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:60655841G>A uc010ddp.2 + 15 1526 c.1258G>A c.(1258-1260)GAA>AAA p.E420K TLK2_uc002izx.3_Missense_Mutation_p.E246K|TLK2_uc002izz.3_Missense_Mutation_p.E398K|TLK2_uc002jaa.3_Missense_Mutation_p.E366K|TLK2_uc010wpd.1_Missense_Mutation_p.E366K NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 420 Potential. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 GCTTTAGGAGGAAGCAGAGAT 0.368 NaN 0 0 0 0.008291 0 11 78 CCDC46 201134 broad.mit.edu 37 17 64049896 64049896 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:64049896C>T uc002jfl.2 - 12 1395 c.1176G>A c.(1174-1176)CTG>CTA p.L392L CCDC46_uc010deo.2_Silent_p.L134L|CCDC46_uc002jfm.2_Silent_p.L392L|CCDC46_uc010dep.2_Silent_p.L350L NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 392 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) CCATTTTATTCAGACGCACAT 0.388 NaN 0 0 0 0.009718 0 41 206 NAT9 26151 broad.mit.edu 37 17 72767986 72767986 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:72767986G>A uc002jlq.2 - 7 575 c.501C>T c.(499-501)AGC>AGT p.S167S NAT9_uc002jlr.2_Silent_p.S166S NM_015654 NP_056469 Q9BTE0 NAT9_HUMAN N-acetyltransferase 9 167 N-acetyltransferase. protein complex N-acetyltransferase activity 0 GAAAAACACTGCTCGTAGCCA 0.557 NaN 0 0 0 0.01441 0 89 137 FADS6 283985 broad.mit.edu 37 17 72888659 72888659 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:72888659G>A uc002jmd.1 - 2 360 c.348C>T c.(346-348)TTC>TTT p.F116F NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 122 Helical; (Potential). fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) CCTCCACAAAGAAAAGCAGCC 0.597 NaN 0 0 0 0.00874 0 39 52 TNRC6C 57690 broad.mit.edu 37 17 76047083 76047083 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:76047083C>T uc002jud.2 + 4 2540 c.1940C>T c.(1939-1941)ACA>ATA p.T647I TNRC6C_uc002juf.2_Missense_Mutation_p.T647I|TNRC6C_uc002jue.2_Missense_Mutation_p.T647I NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 647 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCACAAATACAAAGGCCAAT 0.502 NaN 0 0 0 0.00632 0 29 36 TBC1D16 125058 broad.mit.edu 37 17 77922741 77922741 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:77922741C>T uc002jxj.2 - 8 1587 c.1471G>A c.(1471-1473)GAC>AAC p.D491N TBC1D16_uc002jxh.2_Missense_Mutation_p.D129N|TBC1D16_uc002jxi.2_Missense_Mutation_p.D116N|TBC1D16_uc002jxk.1_Missense_Mutation_p.D129N NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 491 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CGGACCACGTCTTTGTCCACA 0.602 NaN 0 0 0 0.01441 0 208 331 CCDC40 55036 broad.mit.edu 37 17 78058702 78058702 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:78058702C>G uc010dht.2 + 13 2177 c.2150C>G c.(2149-2151)TCC>TGC p.S717C CCDC40_uc002jxm.3_Missense_Mutation_p.S500C|CCDC40_uc002jxn.3_Missense_Mutation_p.S113C NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 717 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCGAGATCTCCCGGCGCACG 0.602 NaN 0 0 0 0.01441 0 63 106 CCDC40 55036 broad.mit.edu 37 17 78059829 78059829 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:78059829G>C uc010dht.2 + 14 2290 c.2263G>C c.(2263-2265)GAA>CAA p.E755Q CCDC40_uc002jxm.3_Missense_Mutation_p.E538Q|CCDC40_uc002jxn.3_Missense_Mutation_p.E151Q NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 755 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCTGGAGCTTGAAATCAAAAG 0.448 NaN 0 0 0 0.01441 0 123 197 EMILIN2 84034 broad.mit.edu 37 18 2892205 2892205 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr18:2892205G>A uc002kln.2 + 4 2239 c.2080G>A c.(2080-2082)GGG>AGG p.G694R NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 694 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) ATGCACGCAGGGGGTCCAGAG 0.562 NaN 0 0 0 0.01441 0 112 141 ROCK1 6093 broad.mit.edu 37 18 18622100 18622100 + Nonsense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr18:18622100G>C uc002kte.2 - 8 1858 c.917C>G c.(916-918)TCA>TGA p.S306* NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 306 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TGCTTCTTTTGATATGTCATT 0.333 NaN 0 0 0 0.016522 0 22 59 OSBPL1A 114876 broad.mit.edu 37 18 21746618 21746618 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr18:21746618C>G uc002kve.2 - 26 2758 c.2584G>C c.(2584-2586)GAC>CAC p.D862H OSBPL1A_uc002kvd.2_Missense_Mutation_p.D349H|OSBPL1A_uc010xbc.1_Missense_Mutation_p.D480H NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 862 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CTCTCCATGTCTTTGTCTACT 0.398 NaN 0 0 0 0.01441 0 74 62 ST8SIA3 51046 broad.mit.edu 37 18 55024415 55024415 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr18:55024415G>A uc002lgn.2 + 3 931 c.574G>A c.(574-576)GCC>ACC p.A192T NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 192 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TTGCAATTTCGCCCCTACGGA 0.403 NaN 0 0 0 0.01441 0 71 56 C18orf22 79863 broad.mit.edu 37 18 77794621 77794621 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr18:77794621G>C uc002lns.2 + 1 264 c.126G>C c.(124-126)AAG>AAC p.K42N TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.K42N|C18orf22_uc010dri.1_RNA NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 42 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) TCTCCTGCAAGAACTGGCTCA 0.657 NaN 0 0 0 0.013537 0 13 198 DOT1L 84444 broad.mit.edu 37 19 2222099 2222099 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:2222099C>T uc002lvb.3 + 24 2967 c.2931C>T c.(2929-2931)ACC>ACT p.T977T DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 977 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) TTTTTGCCACCGTGGGGTCCC 0.701 NaN 0 0 0 0.01441 0 97 113 PLIN3 10226 broad.mit.edu 37 19 4859618 4859618 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:4859618T>C uc002mbj.2 - 4 509 c.332A>G c.(331-333)CAG>CGG p.Q111R PLIN3_uc002mbk.2_Missense_Mutation_p.Q111R|PLIN3_uc002mbl.3_Missense_Mutation_p.Q111R NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 111 ILQ -> MLR (in Ref. 2; AAD11622). vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) CGTGGGCTGCTGCAGGATGGG 0.572 NaN 0 0 0 0.01441 0 76 74 C3 718 broad.mit.edu 37 19 6686860 6686860 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:6686860C>T uc002mfm.2 - 28 3605 c.3543G>A c.(3541-3543)ATG>ATA p.M1181I C3_uc002mfl.2_5'UTR NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1181 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCTGTAGGTTCATGTAGTTGG 0.517 NaN 0 0 0 0.01441 0 114 107 DNASE2 1777 broad.mit.edu 37 19 12991823 12991823 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:12991823C>T uc002mvn.1 - 2 376 c.230G>A c.(229-231)CGA>CAA p.R77Q DNASE2_uc010xmr.1_Missense_Mutation_p.R77Q NM_001375 NP_001366 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal precursor 77 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding 0 CTGCAGGCTTCGGCCCACGGC 0.677 NaN Direct_reversal_of_damage 0 0 0 0.01441 0 72 73 CPAMD8 27151 broad.mit.edu 37 19 17039045 17039045 + Splice_Site SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:17039045C>G uc002nfb.2 - 25 3318 c.3286_splice c.e25-1 p.V1096_splice NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CATGGCCAACCTGGAAAAAGA 0.597 NaN 0 0 0 0.00245 0 15 61 HAUS8 93323 broad.mit.edu 37 19 17166705 17166705 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:17166705G>A uc002nfe.2 - 9 864 c.753C>T c.(751-753)TCC>TCT p.S251S HAUS8_uc002nff.2_Silent_p.S250S|HAUS8_uc002nfg.1_Silent_p.S190S|HAUS8_uc002nfh.1_Silent_p.S251S NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 251 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 CCAGGTGGATGGACCTCACGG 0.642 NaN 0 0 0 0.008361 0 28 88 B3GNT3 10331 broad.mit.edu 37 19 17922410 17922410 + Missense_Mutation SNP T T G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:17922410T>G uc002nhk.1 + 3 683 c.598T>G c.(598-600)TGC>GGC p.C200G B3GNT3_uc002nhl.1_Missense_Mutation_p.C200G|B3GNT3_uc010ebd.1_Missense_Mutation_p.C200G|B3GNT3_uc010ebe.1_Missense_Mutation_p.C200G NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 200 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 GGAGACAAGGTGCGCCAACGC 0.572 NaN 0 0 0 0.00632 0 15 122 JAK3 3718 broad.mit.edu 37 19 17953857 17953857 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:17953857C>T uc002nhn.3 - 5 645 c.545G>A c.(544-546)GGA>GAA p.G182E JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.G182E|JAK3_uc010xpx.1_Missense_Mutation_p.G182E|JAK3_uc010xpy.1_3'UTR NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 182 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CAGCAGCTCTCCCGGCCGCTG 0.687 2 Mis acute megakaryocytic leukemia| 0 0 0 0.01441 0 49 79 ISYNA1 51477 broad.mit.edu 37 19 18546114 18546114 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:18546114C>A uc002njd.1 - 10 1484 c.1434G>T c.(1432-1434)GCG>GCT p.A478A ISYNA1_uc002nja.1_Silent_p.A350A|ISYNA1_uc002njb.1_Silent_p.A396A|ISYNA1_uc002njc.1_Silent_p.A328A|ISYNA1_uc010xqh.1_Silent_p.A276A|ISYNA1_uc002nje.1_Silent_p.A424A|ISYNA1_uc002njf.1_Silent_p.A328A NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 478 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 GGCGGAAAAGCGCATTGACCA 0.662 NaN 1 0 7.01153e-11 0.007291 7.31708e-11 27 387 ZNF90 7643 broad.mit.edu 37 19 20229706 20229706 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:20229706G>A uc002nor.2 + 4 1482 c.1343G>A c.(1342-1344)AGT>AAT p.S448N ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN zinc finger protein 90 448 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 ATAATTCATAGTGGAGAGAAA 0.393 NaN 0 0 0 0.014758 0 5 34 ZNF99 7652 broad.mit.edu 37 19 22940978 22940978 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:22940978G>A uc010xrh.1 - 5 1460 c.1460C>T c.(1459-1461)TCA>TTA p.S487L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGTAAGATGTGAAGATTGCTT 0.358 NaN 0 0 0 0.00245 0 15 74 ZNF99 7652 broad.mit.edu 37 19 22941120 22941120 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:22941120G>A uc010xrh.1 - 5 1318 c.1318C>T c.(1318-1320)CAT>TAT p.H440Y NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCCAGTATGAATTATCTTA 0.343 NaN 0 0 0 0.007835 0 38 44 CATSPERG 57828 broad.mit.edu 37 19 38860868 38860868 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:38860868C>T uc002oih.3 + 28 3270 c.3183C>T c.(3181-3183)CTC>CTT p.L1061L CATSPERG_uc002oig.3_Silent_p.L1021L|CATSPERG_uc002oif.3_Silent_p.L701L|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 1061 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 GGCTGCCACTCAGTCCCAAGC 0.602 NaN 0 0 0 0.013726 0 33 89 PSG1 5669 broad.mit.edu 37 19 43376148 43376148 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:43376148C>T uc002ovb.2 - 3 618 c.480G>A c.(478-480)GAG>GAA p.E160E PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.E160E|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.E160E|PSG1_uc010eio.1_Silent_p.E160E|PSG1_uc002oux.1_Silent_p.E89E|PSG1_uc002ouy.1_Silent_p.E160E|PSG1_uc002ouz.1_Silent_p.E160E|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Silent_p.E160E NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 160 Ig-like C2-type 1. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) CCTCCATGGTCTCCCTGGGAT 0.537 NaN 0 0 0 0.01441 0 61 270 MARK4 57787 broad.mit.edu 37 19 45774817 45774817 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:45774817G>C uc002pbb.1 + 8 642 c.637G>C c.(637-639)GAC>CAC p.D213H MARK4_uc002paz.1_Missense_Mutation_p.W23C|MARK4_uc002pba.1_Missense_Mutation_p.D213H|MARK4_uc002pbc.1_Missense_Mutation_p.D79H Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 213 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) ATCGAAGCTGGACACGTTCTG 0.597 NaN 0 0 0 0.01441 0 68 245 SYMPK 8189 broad.mit.edu 37 19 46338423 46338423 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:46338423G>C uc002pdn.2 - 11 1551 c.1306C>G c.(1306-1308)CCC>GCC p.P436A SYMPK_uc002pdo.1_Missense_Mutation_p.P436A|SYMPK_uc002pdp.1_Missense_Mutation_p.P436A|SYMPK_uc002pdq.1_Missense_Mutation_p.P436A NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 436 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GACTCCACGGGGGTGTAGATG 0.602 NaN 0 0 0 0.01441 0 99 62 MYPOP 339344 broad.mit.edu 37 19 46393930 46393930 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:46393930C>G uc002pdt.2 - 3 1238 c.1151G>C c.(1150-1152)AGA>ACA p.R384T NM_001012643 NP_001012661 Q86VE0 MYPOP_HUMAN Myb protein P42POP 384 Nuclear localization signal (By similarity). nucleus DNA binding 0 GAAACCTTTTCTCCGCTTGTG 0.642 NaN 0 0 0 0.011902 0 43 124 PGLYRP1 8993 broad.mit.edu 37 19 46522875 46522875 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:46522875G>A uc002pdx.1 - 2 362 c.318C>T c.(316-318)TAC>TAT p.Y106Y NM_005091 NP_005082 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 precursor 106 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2) 2 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CACGGCCCTCGTATACGAGCC 0.587 NaN 0 0 0 0.00632 0 24 138 PRKD2 25865 broad.mit.edu 37 19 47178369 47178369 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:47178369T>C uc002pfh.2 - 18 2687 c.2345A>G c.(2344-2346)GAC>GGC p.D782G PRKD2_uc002pfd.2_Missense_Mutation_p.D156G|PRKD2_uc010eks.2_Missense_Mutation_p.D185G|PRKD2_uc010ekt.2_Missense_Mutation_p.D49G|PRKD2_uc002pfe.2_Missense_Mutation_p.D312G|PRKD2_uc002pff.2_Missense_Mutation_p.D302G|PRKD2_uc002pfg.2_Missense_Mutation_p.D625G|PRKD2_uc002pfi.2_Missense_Mutation_p.D782G|PRKD2_uc002pfj.2_Missense_Mutation_p.D782G|PRKD2_uc010xye.1_Missense_Mutation_p.D792G|PRKD2_uc002pfk.2_Missense_Mutation_p.D625G NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 782 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GTTGATGAGGTCAATGGCTGC 0.567 NaN 0 0 0 0.010818 0 31 20 NLRP9 338321 broad.mit.edu 37 19 56244156 56244156 + Silent SNP C C T rs146611098 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:56244156C>T uc002qly.2 - 2 1069 c.1041G>A c.(1039-1041)GTG>GTA p.V347V NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 347 NACHT. cytoplasm ATP binding p.V347V(1) skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCCTCTGTTTCACACAAGTAC 0.418 NaN 0 0 0 0.01441 0 209 35 NLRP9 338321 broad.mit.edu 37 19 56244288 56244288 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:56244288C>G uc002qly.2 - 2 937 c.909G>C c.(907-909)AAG>AAC p.K303N NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 303 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AATACGACTTCTTTTCAGATT 0.388 NaN 0 0 0 0.01441 0 112 25 ZNF274 10782 broad.mit.edu 37 19 58724434 58724434 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:58724434C>A uc002qrq.1 + 10 2346 c.1887C>A c.(1885-1887)ACC>ACA p.T629T ZNF274_uc002qrr.1_Silent_p.T597T|ZNF274_uc002qrs.1_Silent_p.T524T|ZNF274_uc010eum.1_Silent_p.T388T NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 629 C2H2-type 5. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) AGGCCTTCACCCAGAGCTCAC 0.517 NaN 1 0 2.40228e-13 0.013114 2.53018e-13 46 409 MYT1L 23040 broad.mit.edu 37 2 1926269 1926269 + Missense_Mutation SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:1926269G>T uc002qxe.2 - 10 2099 c.1272C>A c.(1270-1272)TTC>TTA p.F424L MYT1L_uc002qxd.2_Missense_Mutation_p.F424L|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 424 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGGTCATGTCGAACACCTCTT 0.567 NaN 1 0 1.85244e-09 0.00333 1.92434e-09 24 121 APOB 338 broad.mit.edu 37 2 21230048 21230048 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:21230048T>C uc002red.2 - 26 9820 c.9692A>G c.(9691-9693)GAT>GGT p.D3231G NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3231 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGTACTTATCAAACTTAAT 0.368 NaN 0 0 0 0.004482 0 9 39 LTBP1 4052 broad.mit.edu 37 2 33568000 33568000 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:33568000C>G uc002ros.2 + 25 3829 c.3829C>G c.(3829-3831)CAA>GAA p.Q1277E LTBP1_uc002rot.2_Missense_Mutation_p.Q951E|LTBP1_uc002rou.2_Missense_Mutation_p.Q950E|LTBP1_uc002rov.2_Missense_Mutation_p.Q897E|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1276 EGF-like 13; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TCAGGGCTTTCAAGCCCCACA 0.458 NaN 0 0 0 0.00499 0 18 59 MTIF2 4528 broad.mit.edu 37 2 55476578 55476578 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:55476578C>T uc002ryn.2 - 10 1671 c.934G>A c.(934-936)GAA>AAA p.E312K MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.E312K NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 312 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 CCATAATCTTCACATACCACA 0.433 NaN 0 0 0 0.008871 0 20 79 SMEK2 57223 broad.mit.edu 37 2 55825620 55825620 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:55825620C>G uc002rzc.2 - 4 1228 c.853G>C c.(853-855)GAG>CAG p.E285Q SMEK2_uc002rzb.2_Missense_Mutation_p.E285Q|SMEK2_uc002rzd.2_Missense_Mutation_p.E285Q|SMEK2_uc002rza.2_Missense_Mutation_p.E161Q NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 285 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AGAAAATTCTCTTCAAAAACA 0.348 NaN 0 0 0 0.01441 0 61 37 GPAT2 150763 broad.mit.edu 37 2 96688908 96688908 + Missense_Mutation SNP T T G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:96688908T>G uc002svf.2 - 19 2318 c.2095A>C c.(2095-2097)AAG>CAG p.K699Q GPAT2_uc002svd.2_Missense_Mutation_p.K518Q|GPAT2_uc002sve.2_Missense_Mutation_p.K501Q|GPAT2_uc002svg.2_Missense_Mutation_p.K578Q|GPAT2_uc010yuh.1_Missense_Mutation_p.K628Q|GPAT2_uc002svh.2_Intron NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 699 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 GCAAAGGCCTTGAGCAGCGGG 0.642 NaN 0 0 0 0.001855 0 12 53 SLC9A4 389015 broad.mit.edu 37 2 103090411 103090411 + Missense_Mutation SNP G G A rs141209381 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:103090411G>A uc002tbz.3 + 1 650 c.193G>A c.(193-195)GAC>AAC p.D65N NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 65 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 ACTGGATTATGACTATGTGCA 0.423 NaN 0 0 0 0.005443 0 28 216 SULT1C2 6819 broad.mit.edu 37 2 108910720 108910720 + Missense_Mutation SNP G G C rs144954759 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:108910720G>C uc002tdy.2 + 3 640 c.187G>C c.(187-189)GAA>CAA p.E63Q SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc002tdx.2_Missense_Mutation_p.E63Q|SULT1C2_uc010ywq.1_Missense_Mutation_p.E63Q NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 63 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 GGATATGATTGAACAGAATGG 0.517 NaN 0 0 0 0.01441 0 127 76 GCC2 9648 broad.mit.edu 37 2 109088444 109088444 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:109088444C>G uc002tec.2 + 6 2813 c.2659C>G c.(2659-2661)CAA>GAA p.Q887E GCC2_uc002ted.2_Missense_Mutation_p.Q786E NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 887 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AGAAGTATCTCAAACATGTAG 0.308 NaN 0 0 0 0.01441 0 52 38 SCTR 6344 broad.mit.edu 37 2 120204401 120204401 + Silent SNP G G A rs140245245 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:120204401G>A uc002tma.2 - 11 1300 c.1074C>T c.(1072-1074)TTC>TTT p.F358F SCTR_uc002tlz.2_Silent_p.F180F NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 358 Helical; Name=6; (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) GGGAGAAGGCGAAGACGATGT 0.572 NaN 0 0 0 0.004878 0 30 139 CLASP1 23332 broad.mit.edu 37 2 122098465 122098465 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:122098465G>A uc002tnc.2 - 39 4979 c.4589C>T c.(4588-4590)TCC>TTC p.S1530F CLASP1_uc010yyv.1_Missense_Mutation_p.S576F|CLASP1_uc002tmz.2_Missense_Mutation_p.S615F|CLASP1_uc002tna.2_Missense_Mutation_p.S576F|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S1471F|CLASP1_uc010yza.1_Missense_Mutation_p.S1463F|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.S366F NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1530 Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Poly-Ser.|Interaction with CLIP2 (By similarity). axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) ATCGGAGGAGGAGCTGCTGTT 0.488 NaN 0 0 0 0.001855 0 13 25 GRB14 2888 broad.mit.edu 37 2 165365357 165365357 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:165365357C>T uc002ucl.2 - 7 1363 c.822G>A c.(820-822)CCG>CCA p.P274P GRB14_uc010zcv.1_Silent_p.P187P|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 274 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 GCAAATGCCGCGGTTCCTTAA 0.328 NaN 0 0 0 0.010504 0 20 99 XIRP2 129446 broad.mit.edu 37 2 168103464 168103464 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:168103464G>A uc002udx.2 + 8 5580 c.5562G>A c.(5560-5562)CAG>CAA p.Q1854Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q1679Q|XIRP2_uc010fpq.2_Silent_p.Q1632Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1679 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTGTAAATCAGAAAACAGTGA 0.388 NaN 0 0 0 0.007291 0 28 40 TTN 7273 broad.mit.edu 37 2 179433265 179433265 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:179433265C>T uc010zfg.1 - 275 70114 c.69890G>A c.(69889-69891)GGT>GAT p.G23297D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16992D|TTN_uc010zfi.1_Missense_Mutation_p.G16925D|TTN_uc010zfj.1_Missense_Mutation_p.G16800D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24224 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATTGTCCACCATCATCCTT 0.413 NaN 0 0 0 0.00499 0 17 56 TTN 7273 broad.mit.edu 37 2 179445285 179445285 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:179445285C>T uc010zfg.1 - 266 59341 c.59117G>A c.(59116-59118)CGT>CAT p.R19706H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13401H|TTN_uc010zfi.1_Missense_Mutation_p.R13334H|TTN_uc010zfj.1_Missense_Mutation_p.R13209H|uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20633 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACTCCAGCACGTAATATGAG 0.378 NaN 0 0 0 0.001984 0 6 25 TTN 7273 broad.mit.edu 37 2 179578722 179578722 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:179578722T>C uc010zfg.1 - 89 23155 c.22931A>G c.(22930-22932)AAG>AGG p.K7644R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4305R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8571 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K7644R(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGATGATCTTAAGGCCGGA 0.443 NaN 0 0 0 0.004482 0 9 26 ITGA4 3676 broad.mit.edu 37 2 182339776 182339776 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:182339776G>A uc002unu.2 + 3 1172 c.409G>A c.(409-411)GAA>AAA p.E137K ITGA4_uc010zfl.1_Missense_Mutation_p.E137K NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 137 FG-GAP 2.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACAGCCAGGAGAAAATGGATC 0.458 NaN 0 0 0 0.00308 0 6 26 CPS1 1373 broad.mit.edu 37 2 211473145 211473145 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:211473145G>C uc002vee.3 + 19 2385 c.2253G>C c.(2251-2253)AAG>AAC p.K751N CPS1_uc010fur.2_Missense_Mutation_p.K757N|CPS1_uc010fus.2_Missense_Mutation_p.K300N NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 751 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAGAAATTAAGAACGTCGTAT 0.423 NaN 0 0 0 0.005524 0 37 51 SPEG 10290 broad.mit.edu 37 2 220353543 220353543 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:220353543C>T uc010fwg.2 + 34 8070 c.8070C>T c.(8068-8070)TAC>TAT p.Y2690Y NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2690 Fibronectin type-III 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCAGACCTACCAGGACACGG 0.612 NaN 0 0 0 0.00245 0 14 24 CCDC140 151278 broad.mit.edu 37 2 223168711 223168711 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr2:223168711G>A uc002vnb.1 + 2 474 c.90G>A c.(88-90)GCG>GCA p.A30A NM_153038 NP_694583 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 30 0 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGAGGCTGCGAATGAGTCCA 0.547 NaN 0 0 0 0.00874 0 41 66 SIRPG 55423 broad.mit.edu 37 20 1638344 1638344 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:1638344G>A uc002wfm.1 - 1 82 c.17C>T c.(16-18)TCC>TTC p.S6F SIRPG_uc002wfn.1_Missense_Mutation_p.S6F|SIRPG_uc002wfo.1_Missense_Mutation_p.S6F NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 6 blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 ATGGGGCCAGGAGGCTGGGAC 0.557 NaN 0 0 0 0.01441 0 72 48 FASTKD5 60493 broad.mit.edu 37 20 3128585 3128585 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:3128585C>T uc002whz.2 - 2 1443 c.1132G>A c.(1132-1134)GGA>AGA p.G378R uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 378 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 GCTATCTCTCCAATCTGCTTC 0.443 NaN 0 0 0 0.009535 0 32 133 PLCB1 23236 broad.mit.edu 37 20 8678319 8678319 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:8678319G>C uc002wnb.2 + 11 1059 c.1056G>C c.(1054-1056)GTG>GTC p.V352V PLCB1_uc010zrb.1_Silent_p.V251V|PLCB1_uc002wna.2_Silent_p.V352V|PLCB1_uc002wnc.1_Silent_p.V251V NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 352 PI-PLC X-box. V -> A (in Ref. 2; AAF86613). activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ATCGCCAAGTGCTCCTGTCTG 0.512 NaN 0 0 0 0.01441 0 116 39 SLC24A3 57419 broad.mit.edu 37 20 19677543 19677543 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:19677543G>C uc002wrl.2 + 14 1791 c.1594G>C c.(1594-1596)GTG>CTG p.V532L NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 532 Cytoplasmic (Potential).|Alpha-2. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 CAGCCTCATTGTGGCCAGACA 0.383 NaN 0 0 0 0.01441 0 55 15 MYLK2 85366 broad.mit.edu 37 20 30408244 30408244 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:30408244C>T uc002wwq.2 + 3 470 c.368C>T c.(367-369)CCT>CTT p.P123L NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 123 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGCCAGGATCCTGGAAAGCCC 0.657 NaN 0 0 0 0.006999 0 39 112 PLAGL2 5326 broad.mit.edu 37 20 30784258 30784258 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:30784258C>T uc002wxn.2 - 3 1705 c.1488G>A c.(1486-1488)CAG>CAA p.Q496Q NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 496 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTGGGGGCTACTGGAATGCTT 0.577 NaN 0 0 0 0.01441 0 58 202 MYH7B 57644 broad.mit.edu 37 20 33575921 33575921 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:33575921C>G uc002xbi.1 + 17 1661 c.1569C>G c.(1567-1569)ATC>ATG p.I523M MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 481 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity p.I523M(1) ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGCTGTGCATCAACTTCACCA 0.562 NaN 0 0 0 0.01441 0 170 175 C20orf132 140699 broad.mit.edu 37 20 35731106 35731106 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:35731106C>T uc010zvu.1 - 26 3234 c.3143G>A c.(3142-3144)GGC>GAC p.G1048D C20orf132_uc002xgk.2_Missense_Mutation_p.G670D NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 Error:Variant_position_missing_in_Q9H579_after_alignment 0 Myeloproliferative disorder(115;0.00878) AGAGGACCTGCCCATGAGCTT 0.512 NaN 0 0 0 0.01441 0 208 525 PLCG1 5335 broad.mit.edu 37 20 39797452 39797452 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:39797452G>A uc002xjp.1 + 21 2546 c.2425G>A c.(2425-2427)GAG>AAG p.E809K PLCG1_uc002xjo.1_Missense_Mutation_p.E809K|PLCG1_uc010zwe.1_Missense_Mutation_p.E435K|PLCG1_uc010ggf.2_Missense_Mutation_p.E133K NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 809 SH3. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GAGGGAGGACGAGCTGACCTT 0.577 NaN 0 0 0 0.00623 0 37 29 PTPRT 11122 broad.mit.edu 37 20 40790057 40790057 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:40790057C>A uc002xkg.2 - 17 2801 c.2617G>T c.(2617-2619)GAC>TAC p.D873Y PTPRT_uc010ggj.2_Missense_Mutation_p.D892Y|PTPRT_uc010ggi.2_Missense_Mutation_p.D76Y NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 873 Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGCAGCAAGTCAGCCACCCGG 0.597 NaN 1 0 5.25376e-55 0.01441 5.73252e-55 96 79 EYA2 2139 broad.mit.edu 37 20 45633580 45633580 + Splice_Site SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:45633580G>C uc002xsm.2 + 4 530 c.156_splice c.e4-1 p.R52_splice EYA2_uc010ghp.2_Splice_Site_p.R52_splice|EYA2_uc002xsn.2_Splice_Site_p.R57_splice|EYA2_uc002xso.2_Splice_Site_p.R52_splice|EYA2_uc002xsp.2_Splice_Site_p.R52_splice|EYA2_uc002xsq.2_Splice_Site_p.R52_splice NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) TTTCCACACAGATCTTGCCCA 0.552 NaN 0 0 0 0.01441 0 93 71 ARFGEF2 10564 broad.mit.edu 37 20 47592610 47592610 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:47592610G>A uc002xtx.3 + 14 1984 c.1832G>A c.(1831-1833)AGA>AAA p.R611K NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 611 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GACATGGCAAGACGGTGTAGT 0.507 NaN 0 0 0 0.010729 0 12 85 DIDO1 11083 broad.mit.edu 37 20 61511837 61511837 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:61511837C>G uc002ydr.1 - 16 5735 c.5471G>C c.(5470-5472)AGA>ACA p.R1824T DIDO1_uc002yds.1_Missense_Mutation_p.R1824T NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1824 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TGAGGGGCCTCTGCTGTCCCC 0.617 NaN 0 0 0 0.01441 0 482 358 CHRNA4 1137 broad.mit.edu 37 20 61981890 61981890 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:61981890G>C uc002yes.2 - 5 1051 c.873C>G c.(871-873)CTC>CTG p.L291L CHRNA4_uc002yet.1_Silent_p.L115L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.L220L|CHRNA4_uc002yev.1_Silent_p.L115L|CHRNA4_uc010gkf.1_Silent_p.L115L NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 291 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCTCGGTGATGAGCAGCAGGA 0.592 NaN 0 0 0 0.01441 0 76 453 ZBTB46 140685 broad.mit.edu 37 20 62421703 62421703 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr20:62421703G>A uc002ygv.1 - 2 609 c.408C>T c.(406-408)GAC>GAT p.D136D ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CATCTGAGGCGTCCGACTTGA 0.617 NaN 0 0 0 0.016522 0 22 151 TMPRSS15 5651 broad.mit.edu 37 21 19715873 19715873 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr21:19715873C>T uc002ykw.2 - 12 1409 c.1378G>A c.(1378-1380)GAC>AAC p.D460N NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 460 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTCCAATTGTCTCCATAATTT 0.294 NaN 0 0 0 0.01441 0 378 71 SETD4 54093 broad.mit.edu 37 21 37429482 37429482 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr21:37429482C>G uc002yuw.1 - 2 1467 c.94G>C c.(94-96)GAA>CAA p.E32Q SETD4_uc002yux.1_Missense_Mutation_p.E8Q|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.E32Q|SETD4_uc002yuy.2_Missense_Mutation_p.E32Q|SETD4_uc002yuz.2_Missense_Mutation_p.E8Q|SETD4_uc002yva.2_Missense_Mutation_p.E8Q NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN SET domain containing 4 isoform a 32 large_intestine(1)|ovary(1) 2 TCTATAAATTCAGACTTGTGG 0.398 NaN 0 0 0 0.00333 0 25 106 BRWD1 54014 broad.mit.edu 37 21 40578084 40578084 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr21:40578084G>C uc002yxk.1 - 37 4453 c.4314C>G c.(4312-4314)TTC>TTG p.F1438L BRWD1_uc010goc.1_Missense_Mutation_p.F81L|BRWD1_uc002yxl.2_Missense_Mutation_p.F1438L|BRWD1_uc010god.1_Missense_Mutation_p.F356L NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1438 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GCCGTTGCTTGAACCTCTGGC 0.303 NaN 0 0 0 0.01441 0 55 230 COL6A2 1292 broad.mit.edu 37 21 47531978 47531978 + Silent SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr21:47531978C>G uc002zia.1 + 3 283 c.201C>G c.(199-201)CTC>CTG p.L67L COL6A2_uc002zhy.1_Silent_p.L67L|COL6A2_uc002zhz.1_Silent_p.L67L|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 67 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACATCCTGCTCTTCCACATGA 0.617 NaN 0 0 0 0.01441 0 53 179 CCT8L2 150160 broad.mit.edu 37 22 17072001 17072001 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:17072001C>T uc002zlp.1 - 1 1700 c.1440G>A c.(1438-1440)GTG>GTA p.V480V NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 480 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTTCAGTTCCCACACCCATTA 0.512 NaN 0 0 0 0.01441 0 118 225 TXNRD2 10587 broad.mit.edu 37 22 19870908 19870908 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:19870908C>T uc011ahc.1 - 12 1059 c.1026G>A c.(1024-1026)CTG>CTA p.L342L TXNRD2_uc002zql.1_Silent_p.L96L|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.L341L|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_5'Flank NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 342 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) GGGAGTCCACCAGGATCTTCT 0.617 NaN 0 0 0 0.01441 0 148 217 TRMT2A 27037 broad.mit.edu 37 22 20100675 20100675 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:20100675G>A uc002zrk.1 - 11 1730 c.1515C>T c.(1513-1515)CTC>CTT p.L505L TRMT2A_uc002zrl.1_Silent_p.L505L|TRMT2A_uc002zrm.1_Silent_p.L327L|TRMT2A_uc002zrn.1_Silent_p.L523L NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 505 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 GGATGGCCACGAGGTGCTGGG 0.612 NaN 0 0 0 0.01441 0 88 172 LARGE 9215 broad.mit.edu 37 22 33777913 33777913 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:33777913C>A uc003and.3 - 10 1702 c.1123G>T c.(1123-1125)GAT>TAT p.D375Y LARGE_uc011amd.1_Missense_Mutation_p.D174Y|LARGE_uc003ane.3_Missense_Mutation_p.D375Y|LARGE_uc010gwp.2_Missense_Mutation_p.D375Y|LARGE_uc011ame.1_Missense_Mutation_p.D307Y|LARGE_uc011amf.1_Missense_Mutation_p.D375Y|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 375 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) ACCTTTAGATCAGACACGTCT 0.562 NaN 1 0 3.57733e-08 0.009535 3.69928e-08 30 145 LARGE 9215 broad.mit.edu 37 22 33780253 33780253 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:33780253C>A uc003and.3 - 9 1509 c.930G>T c.(928-930)ATG>ATT p.M310I LARGE_uc011amd.1_Missense_Mutation_p.M109I|LARGE_uc003ane.3_Missense_Mutation_p.M310I|LARGE_uc010gwp.2_Missense_Mutation_p.M310I|LARGE_uc011ame.1_Missense_Mutation_p.M242I|LARGE_uc011amf.1_Missense_Mutation_p.M310I|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 310 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GCTCCCATTTCATCTTCCGCA 0.493 NaN 1 0 1.31726e-23 0.01441 1.40364e-23 60 101 NOL12 79159 broad.mit.edu 37 22 38087186 38087186 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:38087186C>G uc003atp.2 + 6 541 c.485C>G c.(484-486)TCC>TGC p.S162C NOL12_uc011anm.1_3'UTR|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR NM_024313 NP_077289 Q9UGY1 NOL12_HUMAN nucleolar protein 12 162 nucleolus rRNA binding 0 Melanoma(58;0.0574) CCTAGGATCTCCTCCCTCACA 0.577 NaN 0 0 0 0.01441 0 67 141 SCO2 9997 broad.mit.edu 37 22 50962178 50962178 + Silent SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:50962178G>T uc003bma.2 - 2 839 c.663C>A c.(661-663)ATC>ATA p.I221I SCO2_uc003blz.3_Silent_p.I221I NM_005138 NP_005129 O43819 SCO2_HUMAN cytochrome oxidase deficient homolog 2 221 Thioredoxin. cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGTGGTCCACGATGTAGTCCT 0.572 NaN 1 0 4.83248e-46 0.01441 5.24769e-46 75 433 SEC13 6396 broad.mit.edu 37 3 10354378 10354378 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:10354378G>A uc003bvn.2 - 4 320 c.201C>T c.(199-201)CAC>CAT p.H67H SEC13_uc003bvl.2_5'UTR|SEC13_uc003bvm.2_Silent_p.H53H|SEC13_uc003bvp.2_Silent_p.H70H|SEC13_uc003bvo.2_Silent_p.H113H|SEC13_uc003bvq.1_Silent_p.H53H|SEC13_uc003bvr.1_Silent_p.H53H|SEC13_uc011aul.1_Silent_p.H67H NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 67 WD 2. COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 CGTACATGGGGTGAGCCCAGG 0.562 NaN 0 0 0 0.010818 0 28 180 LAMB2 3913 broad.mit.edu 37 3 49169709 49169709 + Missense_Mutation SNP C C G rs1131783 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:49169709C>G uc003cwe.2 - 3 678 c.379G>C c.(379-381)GAG>CAG p.E127Q LAMB2_uc003cwf.1_Missense_Mutation_p.E127Q NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 127 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCACCATTCTCTGACTGCCAC 0.602 NaN 0 0 0 0.01441 0 61 35 CCDC71 64925 broad.mit.edu 37 3 49201104 49201104 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:49201104C>G uc003cwg.3 - 2 676 c.538G>C c.(538-540)GAG>CAG p.E180Q NM_022903 NP_075054 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 180 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACCAGGGCCTCAAGGACAACA 0.587 NaN 0 0 0 0.01441 0 118 58 ZPLD1 131368 broad.mit.edu 37 3 102195877 102195877 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:102195877C>T uc003dvs.1 + 17 1946 c.1064C>T c.(1063-1065)TCG>TTG p.S355L ZPLD1_uc003dvt.1_Missense_Mutation_p.S371L|ZPLD1_uc011bhg.1_Missense_Mutation_p.S355L NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 355 Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 ACCAACAATTCGCAACTTGGT 0.308 NaN 0 0 0 0.013114 0 41 93 PLCXD2 257068 broad.mit.edu 37 3 111394145 111394145 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:111394145C>A uc003dya.2 + 1 639 c.53C>A c.(52-54)TCC>TAC p.S18Y PLCXD2_uc003dyb.2_Missense_Mutation_p.S18Y|PLCXD2_uc003dxz.2_Missense_Mutation_p.S18Y NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 18 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 ACCATCTGCTCCCCCAACCCC 0.582 NaN 1 0 3.90053e-15 0.012213 4.1273e-15 30 179 KIAA2018 205717 broad.mit.edu 37 3 113379606 113379606 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:113379606G>A uc003eam.2 - 7 1334 c.923C>T c.(922-924)TCA>TTA p.S308L KIAA2018_uc003eal.2_Missense_Mutation_p.S252L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 308 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GGCAGTTGCTGAGGAGCTGTG 0.413 NaN 0 0 0 0.01441 0 50 77 KTELC1 56983 broad.mit.edu 37 3 119209463 119209463 + Nonsense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:119209463C>A uc003ecm.2 + 9 947 c.863C>A c.(862-864)TCA>TAA p.S288* KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Nonsense_Mutation_p.S129* NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 288 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) CTGTGTGGCTCACTTGTTTTC 0.413 NaN 1 0 3.76114e-14 0.004289 3.97057e-14 37 215 EEFSEC 60678 broad.mit.edu 37 3 128126998 128126998 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:128126998G>A uc003eki.2 + 7 1725 c.1687G>A c.(1687-1689)GAG>AAG p.E563K EEFSEC_uc003ekj.2_3'UTR NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 563 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 CACCAGGCAGGAGGAGAGCGC 0.642 NaN 0 0 0 0.01441 0 101 123 PCOLCE2 26577 broad.mit.edu 37 3 142539827 142539827 + Missense_Mutation SNP G G C rs2304735 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:142539827G>C uc003evd.2 - 8 1206 c.1010C>G c.(1009-1011)TCG>TGG p.S337W NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 337 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GTTGATGATCGAGACTGTGGC 0.502 NaN 0 0 0 0.008361 0 29 48 ZIC1 7545 broad.mit.edu 37 3 147130454 147130454 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:147130454C>T uc003ewe.2 + 2 1851 c.1132C>T c.(1132-1134)CGC>TGC p.R378C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 378 C2H2-type 5. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CAGTTCGCTGCGCAAACACAT 0.597 NaN 0 0 0 0.01441 0 61 396 SLC33A1 9197 broad.mit.edu 37 3 155546144 155546144 + Missense_Mutation SNP G G A rs149578822 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:155546144G>A uc003fan.3 - 6 1886 c.1505C>T c.(1504-1506)TCA>TTA p.S502L SLC33A1_uc003fao.1_Missense_Mutation_p.S502L NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 502 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGTAACACATGAGCCACCCAG 0.313 NaN 0 0 0 0.01441 0 51 55 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:178928079G>C uc003fjk.2 + 8 1514 c.1357G>C c.(1357-1359)GAA>CAA p.E453Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.01441 0 82 74 MCCC1 56922 broad.mit.edu 37 3 182759419 182759419 + Silent SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:182759419T>C uc003fle.2 - 11 1340 c.1203A>G c.(1201-1203)CCA>CCG p.P401P MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.P284P|MCCC1_uc003flg.2_Silent_p.P292P|MCCC1_uc011bqp.1_Silent_p.P354P NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 401 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GGTGCACTAATGGGCCTGCCA 0.458 NaN 0 0 0 0.01441 0 71 99 EIF4G1 1981 broad.mit.edu 37 3 184041700 184041700 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:184041700G>C uc003fnp.2 + 16 2605 c.2407G>C c.(2407-2409)GAG>CAG p.E803Q EIF4G1_uc003fno.1_Missense_Mutation_p.E744Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.E639Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.E514Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E716Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E639Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E763Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E804Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E803Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E608Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E607Q|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 803 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTCATTTTTGAGAAGGCCAT 0.517 NaN 0 0 0 0.01441 0 117 297 EPHB3 2049 broad.mit.edu 37 3 184299313 184299313 + Missense_Mutation SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:184299313G>T uc003foz.2 + 16 3337 c.2900G>T c.(2899-2901)CGT>CTT p.R967L NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 967 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GACCTGCTCCGTATTGGGGTC 0.607 NaN 1 0 2.44813e-32 0.01441 2.63334e-32 58 72 MAP3K13 9175 broad.mit.edu 37 3 185146688 185146688 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:185146688G>A uc010hyf.2 + 3 585 c.319G>A c.(319-321)GGA>AGA p.G107R MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.G107R|MAP3K13_uc010hyg.2_5'UTR NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 107 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CACGGTGGACGGAGAGAGCAC 0.517 NaN 0 0 0 0.014323 0 22 60 ZNF721 170960 broad.mit.edu 37 4 437033 437033 + Missense_Mutation SNP T T G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:437033T>G uc003gag.2 - 3 1914 c.1223A>C c.(1222-1224)AAG>ACG p.K408T ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K440T|ZNF721_uc010ibe.2_Missense_Mutation_p.K396T NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 408 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GTGAATTCTCTTATGTGCAGT 0.393 NaN 0 0 0 0.013726 0 34 46 MXD4 10608 broad.mit.edu 37 4 2252408 2252408 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:2252408C>G uc003geu.1 - 6 525 c.493G>C c.(493-495)GAG>CAG p.E165Q NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 165 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 GGGCCAAACTCCATGCCCTCT 0.607 NaN 0 0 0 0.01441 0 47 96 MXD4 10608 broad.mit.edu 37 4 2252892 2252892 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:2252892C>G uc003geu.1 - 5 423 c.391G>C c.(391-393)GAG>CAG p.E131Q NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 131 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 GACAGCTGCTCCAGGCGCCGC 0.677 NaN 0 0 0 0.015359 0 26 45 HTRA3 94031 broad.mit.edu 37 4 8284261 8284261 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:8284261G>A uc003gla.2 + 2 687 c.483G>A c.(481-483)CTG>CTA p.L161L HTRA3_uc003gkz.2_Silent_p.L161L NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 161 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 AGCTCTTCCTGAGGTGGGTGA 0.617 NaN 0 0 0 0.006999 0 38 44 ZCCHC4 29063 broad.mit.edu 37 4 25351119 25351119 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:25351119C>T uc003grl.3 + 7 801 c.765C>T c.(763-765)GCC>GCT p.A255A ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Silent_p.A21A NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 255 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) TCCAGACTGCCCTTGAAGTAT 0.408 NaN 0 0 0 0.01441 0 54 101 SHISA3 152573 broad.mit.edu 37 4 42403228 42403228 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:42403228C>T uc003gwp.2 + 2 695 c.477C>T c.(475-477)TCC>TCT p.S159S NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 159 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 GGGCACCCTCCCGGCAGTCCA 0.672 NaN 0 0 0 0.01441 0 95 267 GABRG1 2565 broad.mit.edu 37 4 46043250 46043250 + Nonsense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:46043250C>A uc003gxb.2 - 9 1305 c.1153G>T c.(1153-1155)GGA>TGA p.G385* NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 385 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGAGTGGATCCAGGATGGAGA 0.388 NaN 1 0 7.16444e-05 0.003954 7.26018e-05 25 21 GABRB1 2560 broad.mit.edu 37 4 47427997 47427997 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:47427997C>T uc003gxh.2 + 9 1761 c.1387C>T c.(1387-1389)CTT>TTT p.L463F GABRB1_uc011bze.1_Missense_Mutation_p.L393F NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 463 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CACCTTTTCTCTTTTTAATGT 0.428 NaN 0 0 0 0.01441 0 70 89 AGXT2L1 64850 broad.mit.edu 37 4 109677623 109677623 + Missense_Mutation SNP G G A rs112469981 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:109677623G>A uc003hzc.2 - 4 542 c.361C>T c.(361-363)CGC>TGC p.R121C AGXT2L1_uc010imc.2_Missense_Mutation_p.R115C|AGXT2L1_uc011cfm.1_Missense_Mutation_p.R81C|AGXT2L1_uc011cfn.1_Missense_Mutation_p.R48C|AGXT2L1_uc011cfo.1_Missense_Mutation_p.R63C NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 121 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) CGAGCCAGGCGTAAGGCTAAG 0.403 NaN 0 0 0 0.008871 0 17 61 ALPK1 80216 broad.mit.edu 37 4 113352240 113352240 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:113352240C>G uc003iap.3 + 11 1816 c.1537C>G c.(1537-1539)CAA>GAA p.Q513E ALPK1_uc003ian.3_Missense_Mutation_p.Q513E|ALPK1_uc011cfx.1_Missense_Mutation_p.Q435E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.Q341E NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 513 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GCCACATTGTCAAAGAGACAC 0.408 NaN 0 0 0 0.008361 0 30 29 USP53 54532 broad.mit.edu 37 4 120181753 120181753 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:120181753C>G uc003ics.3 + 10 1833 c.767C>G c.(766-768)TCT>TGT p.S256C USP53_uc003icr.3_Missense_Mutation_p.S256C|USP53_uc003icu.3_5'UTR NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 256 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 TCCGAGCATTCTGACTTGACC 0.378 NaN 0 0 0 0.01441 0 42 44 OTUD4 54726 broad.mit.edu 37 4 146063358 146063358 + Silent SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:146063358A>G uc003ika.3 - 18 1755 c.1617T>C c.(1615-1617)TTT>TTC p.F539F OTUD4_uc003ijz.3_Silent_p.F538F NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 603 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) CTGTTGGTCCAAAAGTTGTAG 0.468 NaN 0 0 0 0.01441 0 53 170 CCDC110 256309 broad.mit.edu 37 4 186380089 186380089 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:186380089T>C uc003ixu.3 - 6 1728 c.1652A>G c.(1651-1653)CAC>CGC p.H551R CCDC110_uc003ixv.3_Missense_Mutation_p.H514R|CCDC110_uc011ckt.1_Missense_Mutation_p.H551R NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 551 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTGAGTTTTGTGTTCCTTACT 0.303 NaN 0 0 0 0.003163 0 13 35 DNAH5 1767 broad.mit.edu 37 5 13913870 13913870 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:13913870G>A uc003jfd.2 - 11 1560 c.1518C>T c.(1516-1518)GAC>GAT p.D506D DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 506 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TAGTGGCCATGTCTTCCAGCC 0.358 NaN Kartagener_syndrome 0 0 0 0.01441 0 45 35 FBXL7 23194 broad.mit.edu 37 5 15937113 15937113 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:15937113C>G uc003jfn.1 + 4 1775 c.1294C>G c.(1294-1296)CGG>GGG p.R432G NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 432 LRR 10. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CAACCTCAAGCGGCTCAGCCT 0.582 NaN 0 0 0 0.012319 0 23 70 PDZD2 23037 broad.mit.edu 37 5 32074145 32074145 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:32074145G>C uc003jhl.2 + 18 3321 c.2933G>C c.(2932-2934)AGA>ACA p.R978T PDZD2_uc003jhm.2_Missense_Mutation_p.R978T|PDZD2_uc011cnx.1_Missense_Mutation_p.R804T NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 978 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GAGTTTGACAGAGAAGGGGAC 0.607 NaN 0 0 0 0.009535 0 33 53 WDR41 55255 broad.mit.edu 37 5 76736658 76736658 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:76736658G>C uc003kff.1 - 9 1149 c.862C>G c.(862-864)CAT>GAT p.H288D WDR41_uc011csy.1_Missense_Mutation_p.H230D|WDR41_uc011csz.1_Missense_Mutation_p.H233D|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN WD repeat domain 41 288 0 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) CATGTGAAATGATGAATAGAA 0.343 NaN 0 0 0 0.007413 0 20 33 BRD8 10902 broad.mit.edu 37 5 137488324 137488324 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:137488324C>G uc003lcf.1 - 21 2758 c.2703G>C c.(2701-2703)TGG>TGC p.W901C BRD8_uc003lcc.1_Intron NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 901 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAGTTTCCCTCCAGTTGCCCA 0.517 NaN 0 0 0 0.01441 0 111 148 TMCO6 55374 broad.mit.edu 37 5 140024595 140024595 + Nonsense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:140024595C>G uc003lgl.2 + 12 1495 c.1394C>G c.(1393-1395)TCA>TGA p.S465* TMCO6_uc003lgm.2_Nonsense_Mutation_p.S471*|TMCO6_uc010jft.2_Nonsense_Mutation_p.S225*|TMCO6_uc003lgn.2_Nonsense_Mutation_p.S356*|TMCO6_uc003lgo.2_Nonsense_Mutation_p.S225*|IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank NM_018502 NP_060972 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 465 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGCAGTCAGGGCTGCAA 0.537 NaN 0 0 0 0.01441 0 72 104 PCDHGA3 56112 broad.mit.edu 37 5 140725379 140725379 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:140725379G>A uc003ljm.1 + 1 1779 c.1779G>A c.(1777-1779)GCG>GCA p.A593A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A353A|PCDHGA3_uc011dap.1_Silent_p.A593A NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 593 Extracellular (Potential).|Cadherin 6. 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) AGGTGGTGGCGGTGGACAGAG 0.692 NaN 0 0 0 0.01441 0 108 254 PCDH1 5097 broad.mit.edu 37 5 141233792 141233792 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:141233792C>G uc003llp.2 - 5 3646 c.3529G>C c.(3529-3531)GAC>CAC p.D1177H NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTGTTCCGGTCTTCCGGGGGG 0.667 NaN 0 0 0 0.004878 0 33 31 PCDH1 5097 broad.mit.edu 37 5 141233828 141233828 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:141233828C>G uc003llp.2 - 5 3610 c.3493G>C c.(3493-3495)GAG>CAG p.E1165Q NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CCCGCAGGCTCCTGCCCTCCT 0.677 NaN 0 0 0 0.003755 0 28 27 ADAM19 8728 broad.mit.edu 37 5 156946911 156946911 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:156946911G>C uc003lwz.2 - 6 600 c.536C>G c.(535-537)TCC>TGC p.S179C ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.S110C NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 179 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGGGCTTGGAGTGCTCGAA 0.552 NaN 0 0 0 0.009718 0 41 150 DOCK2 1794 broad.mit.edu 37 5 169507184 169507184 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:169507184G>A uc003maf.2 + 50 5264 c.5184G>A c.(5182-5184)GAG>GAA p.E1728E DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.E1220E|DOCK2_uc003mah.2_Silent_p.E284E NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1728 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAAGCATGAGTTCATGAGTG 0.532 NaN 0 0 0 0.00499 0 17 92 RANBP17 64901 broad.mit.edu 37 5 170667947 170667947 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:170667947C>A uc003mba.2 + 23 2454 c.2438C>A c.(2437-2439)TCC>TAC p.S813Y RANBP17_uc003mbb.2_Missense_Mutation_p.S138Y|RANBP17_uc003mbd.2_Missense_Mutation_p.S176Y|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 813 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGATCCTGTCCCTTGGGAGC 0.383 NaN T TRD@ ALL 1 0 2.46105e-21 0.010818 2.61631e-21 30 81 MAPK9 5601 broad.mit.edu 37 5 179666936 179666936 + Nonsense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr5:179666936C>A uc003mls.3 - 10 1319 c.1048G>T c.(1048-1050)GAA>TAA p.E350* MAPK9_uc003mlt.3_Nonsense_Mutation_p.E350*|MAPK9_uc010jlc.2_Nonsense_Mutation_p.E350*|MAPK9_uc003mlv.3_Nonsense_Mutation_p.E350* NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 350 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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 cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCATTCTTCAATTGCATGT 0.348 NaN 1 0 1.2644e-06 0.010504 1.29573e-06 20 58 TFAP2A 7020 broad.mit.edu 37 6 10410427 10410427 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:10410427G>A uc003myr.2 - 2 439 c.187C>T c.(187-189)CAG>TAG p.Q63* TFAP2A_uc003myq.2_Nonsense_Mutation_p.Q57*|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Nonsense_Mutation_p.Q63*|TFAP2A_uc003myt.2_Nonsense_Mutation_p.Q59*|TFAP2A_uc003myu.1_Nonsense_Mutation_p.Q63*|TFAP2A_uc003myv.1_Nonsense_Mutation_p.Q49*|TFAP2A_uc011dii.1_Nonsense_Mutation_p.Q59*|uc003myw.2_5'Flank NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 63 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) TAGATAGGCTGGTAGGGTGGG 0.657 NaN 0 0 0 0.01441 0 82 136 TRIM27 5987 broad.mit.edu 37 6 28891284 28891284 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:28891284G>A uc003nlr.2 - 1 485 c.126C>T c.(124-126)CGC>CGT p.R42R TRIM27_uc003nls.2_Silent_p.R42R|TRIM27_uc003nlt.1_Silent_p.R42R NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 42 RING-type. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 TGCCCCAGCAGCGGGCGAGGC 0.672 NaN T RET papillary thyroid 0 0 0 0.006214 0 10 42 OR10C1 442194 broad.mit.edu 37 6 29408455 29408455 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:29408455C>A uc011dlp.1 + 1 663 c.663C>A c.(661-663)CTC>CTA p.L221L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCGTATCCTCGTTACCATCT 0.592 NaN 1 0 1.43987e-31 0.01441 1.54514e-31 70 265 HLA-DRA 3122 broad.mit.edu 37 6 32407746 32407746 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:32407746C>T uc003obh.2 + 1 100 c.19C>T c.(19-21)CCT>TCT p.P7S HLA-DRA_uc003obi.2_Missense_Mutation_p.P7S NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 7 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 AAGTGGAGTCCCTGTGCTAGG 0.473 NaN T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of 0 0 0 0.008871 0 17 26 PFDN6 10471 broad.mit.edu 37 6 33257970 33257970 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:33257970G>A uc003odt.1 + 3 199 c.84G>A c.(82-84)TCG>TCA p.S28S WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Silent_p.S28S NM_014260 NP_055075 O15212 PFD6_HUMAN HLA class II region expressed gene KE2 28 'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly prefoldin complex chaperone binding|unfolded protein binding 0 AATCCATGTCGGGGAGGCAGA 0.468 NaN 0 0 0 0.00245 0 14 67 ITPR3 3710 broad.mit.edu 37 6 33632979 33632979 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:33632979G>C uc011drk.1 + 13 1617 c.1398G>C c.(1396-1398)CAG>CAC p.Q466H NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 466 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TCATCAGCCAGAATGACCGCA 0.567 NaN 0 0 0 0.01441 0 42 161 HMGA1 3159 broad.mit.edu 37 6 34208621 34208621 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:34208621G>C uc003oit.2 + 3 386 c.64G>C c.(64-66)GAG>CAG p.E22Q HMGA1_uc011dso.1_Missense_Mutation_p.E22Q|HMGA1_uc003oiv.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiw.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiu.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiy.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiz.2_Missense_Mutation_p.E22Q|HMGA1_uc003oja.2_Missense_Mutation_p.E22Q|HMGA1_uc003oix.2_Missense_Mutation_p.E22Q|HMGA1_uc010jvl.2_RNA|HMGA1_uc003ojc.2_Missense_Mutation_p.E22Q|HMGA1_uc011dsp.1_RNA|HMGA1_uc003ojd.2_Missense_Mutation_p.E22Q NM_145899 NP_665906 P17096 HMGA1_HUMAN high mobility group AT-hook 1 isoform a 22 A.T hook 1. DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration chromatin|cytosol|transcription factor complex AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity 0 GGACGGCACTGAGAAGCGGGG 0.622 NaN T NaN microfollicular thyroid adenoma| various benign mesenchymal tumors, 0 0 0 0.01441 0 78 100 FANCE 2178 broad.mit.edu 37 6 35423591 35423591 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:35423591C>T uc003oko.1 + 2 501 c.316C>T c.(316-318)CGG>TGG p.R106W FANCE_uc010jvw.1_Missense_Mutation_p.R106W NM_021922 NP_068741 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 106 DNA repair nucleoplasm protein binding ovary(1)|lung(1)|skin(1) 3 GATGGCCGTTCGGCCATCGCT 0.607 NaN N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.013114 0 43 121 KHDRBS2 202559 broad.mit.edu 37 6 62688006 62688006 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:62688006G>A uc003peg.2 - 4 695 c.448C>T c.(448-450)CAT>TAT p.H150Y NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding p.H150Y(1) skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCCAATGCATGACTCATACGT 0.373 NaN 0 0 0 0.014323 0 19 56 MTO1 25821 broad.mit.edu 37 6 74171644 74171644 + Missense_Mutation SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:74171644G>T uc003pgy.3 + 1 191 c.67G>T c.(67-69)GCA>TCA p.A23S MTO1_uc010kav.2_Missense_Mutation_p.A23S|MTO1_uc003pgz.3_Missense_Mutation_p.A23S|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Intron|MTO1_uc003phc.1_5'Flank NM_133645 NP_598400 Q9Y2Z2 MTO1_HUMAN mitochondrial translation optimization 1 homolog 23 tRNA processing mitochondrion flavin adenine dinucleotide binding ovary(3)|skin(2)|pancreas(1) 6 ATTTCCGTTGGCACGGTTGAG 0.592 NaN 1 0 1.7489e-18 0.011902 1.8549e-18 42 115 TAAR8 83551 broad.mit.edu 37 6 132874467 132874467 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:132874467G>C uc011ecj.1 + 1 636 c.636G>C c.(634-636)ATG>ATC p.M212I NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 212 Helical; Name=5; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CCCTTGTTATGATAATTCTTT 0.328 NaN 0 0 0 0.004482 0 9 22 SASH1 23328 broad.mit.edu 37 6 148865205 148865205 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:148865205G>C uc003qme.1 + 18 3074 c.2599G>C c.(2599-2601)GAA>CAA p.E867Q SASH1_uc011eeb.1_Missense_Mutation_p.E628Q|SASH1_uc003qmf.1_Missense_Mutation_p.E277Q NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 867 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GATTGTACCTGAAGTGCCACA 0.572 NaN 0 0 0 0.01441 0 196 111 ULBP1 80329 broad.mit.edu 37 6 150289814 150289814 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:150289814C>G uc003qnp.2 + 2 200 c.157C>G c.(157-159)CAA>GAA p.Q53E NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 53 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) GTGTGAAGTTCAAGGCCTGGT 0.463 NaN 0 0 0 0.01441 0 145 73 SYNE1 23345 broad.mit.edu 37 6 152768727 152768727 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:152768727C>T uc010kiw.2 - 29 4137 c.3535G>A c.(3535-3537)GAG>AAG p.E1179K SYNE1_uc003qot.3_Missense_Mutation_p.E1186K|SYNE1_uc003qou.3_Missense_Mutation_p.E1179K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1162K|SYNE1_uc003qow.2_Missense_Mutation_p.E474K|SYNE1_uc003qox.1_Missense_Mutation_p.E695K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1179 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGAGGGTCTCACCCCTTTTG 0.423 NaN HNSCC(10;0.0054) 0 0 0 0.01441 0 69 34 MYCT1 80177 broad.mit.edu 37 6 153043097 153043097 + Silent SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:153043097G>C uc003qpd.3 + 2 425 c.417G>C c.(415-417)CTG>CTC p.L139L MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.L139L NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 139 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) ACCTCAGCCTGGCCAGTCTCA 0.493 NaN 0 0 0 0.01441 0 60 23 PSMB1 5689 broad.mit.edu 37 6 170862293 170862293 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:170862293C>T uc011ehe.1 - 1 125 c.38G>A c.(37-39)AGA>AAA p.R13K PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank NM_002793 NP_002784 P20618 PSB1_HUMAN proteasome beta 1 subunit precursor 13 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) CCCCAAGTCTCTGCCAGGAGC 0.607 NaN 0 0 0 0.004007 0 14 5 SDK1 221935 broad.mit.edu 37 7 4051844 4051844 + Silent SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:4051844G>T uc003smx.2 + 16 2536 c.2397G>T c.(2395-2397)GGG>GGT p.G799G SDK1_uc010kso.2_Silent_p.G75G NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 799 Fibronectin type-III 2. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGCACAACGGGGTGTTGCGTG 0.502 NaN 1 0 3.66986e-57 0.01441 4.01391e-57 89 90 ACTB 60 broad.mit.edu 37 7 5568242 5568242 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:5568242C>T uc003sos.3 - 3 508 c.472G>A c.(472-474)GGG>AGG p.G158R ACTB_uc003sor.3_Missense_Mutation_p.G36R|ACTB_uc003sot.3_Missense_Mutation_p.G158R|ACTB_uc003soq.3_Missense_Mutation_p.G36R|ACTB_uc010ksy.2_Missense_Mutation_p.G36R NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 158 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGGGTGACCCCGTCACCGGAG 0.607 NaN 0 0 0 0.01441 0 84 264 SOSTDC1 25928 broad.mit.edu 37 7 16502559 16502559 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:16502559G>A uc003stg.2 - 2 416 c.235C>T c.(235-237)CGT>TGT p.R79C SOSTDC1_uc003sth.2_Missense_Mutation_p.R103C NM_015464 NP_056279 Q6X4U4 SOSD1_HUMAN sclerostin domain containing 1 precursor 79 CTCK. Wnt receptor signaling pathway ovary(2)|central_nervous_system(1) 3 Lung NSC(10;0.185) UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TTGGTGGAACGCAGTTCCCGG 0.502 NaN 0 0 0 0.006999 0 40 38 BZW2 28969 broad.mit.edu 37 7 16745684 16745684 + Splice_Site SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:16745684G>C uc003stl.2 + 12 1410 c.1232_splice c.e12-1 p.E411_splice BZW2_uc003stm.2_Splice_Site_p.E217_splice|BZW2_uc003stj.2_Splice_Site_p.E411_splice|BZW2_uc003stk.2_Splice_Site_p.E335_splice|BZW2_uc003stp.2_Splice_Site_p.E259_splice|BZW2_uc010kua.2_Splice_Site_p.E370_splice NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) TTCTCTCCTAGAATCCGAATC 0.428 NaN 0 0 0 0.010504 0 20 59 CDCA7L 55536 broad.mit.edu 37 7 21951271 21951271 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:21951271C>G uc010kuk.2 - 3 387 c.267G>C c.(265-267)CAG>CAC p.Q89H CDCA7L_uc003sve.3_Missense_Mutation_p.Q55H|CDCA7L_uc010kul.2_Intron|CDCA7L_uc003svf.3_Missense_Mutation_p.Q88H|CDCA7L_uc011jyk.1_Missense_Mutation_p.Q89H NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 89 PSIP1-binding. positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 TCAGATCACTCTGCGTAAATC 0.388 NaN 0 0 0 0.01441 0 64 66 AVL9 23080 broad.mit.edu 37 7 32623518 32623518 + Nonstop_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:32623518G>C uc003tcv.1 + 16 2092 c.1946G>C c.(1945-1947)TGA>TCA p.*649S AVL9_uc011kai.1_Intron|uc003tcw.2_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.E433Q NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 649 integral to membrane 0 GAGAAGCCTTGAGCAAGGCGT 0.522 NaN 0 0 0 0.00308 0 8 31 PKD1L1 168507 broad.mit.edu 37 7 47894544 47894544 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:47894544G>C uc003tny.1 - 30 4795 c.4795C>G c.(4795-4797)CTA>GTA p.L1599V NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1599 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TCTATCTGTAGAGATTCCTGG 0.398 NaN 0 0 0 0.01441 0 50 43 DDC 1644 broad.mit.edu 37 7 50595941 50595941 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:50595941C>G uc003tpf.3 - 6 694 c.608G>C c.(607-609)GGA>GCA p.G203A DDC_uc010kza.2_Missense_Mutation_p.G118A|DDC_uc003tpg.3_Missense_Mutation_p.G203A NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 203 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TAATTTCACTCCACCAATTAA 0.527 NaN 0 0 0 0.007291 0 29 102 ZNF713 349075 broad.mit.edu 37 7 55991305 55991305 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:55991305C>G uc003trc.1 + 3 219 c.181C>G c.(181-183)CAG>GAG p.Q61E ZNF713_uc003tra.1_Missense_Mutation_p.Q74E|MRPS17_uc003trb.2_Missense_Mutation_p.Q61E NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) aatagggtatcagctttgtaa 0.214 NaN 0 0 0 0.00308 0 8 10 ZNF735 730291 broad.mit.edu 37 7 63673568 63673568 + Silent SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:63673568A>G uc011kdn.1 + 2 138 c.138A>G c.(136-138)TTA>TTG p.L46L NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGTGATGTTAGAGAACTACA 0.393 NaN 0 0 0 0.004007 0 16 36 AUTS2 26053 broad.mit.edu 37 7 70255708 70255708 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:70255708C>G uc003tvw.3 + 19 4249 c.3506C>G c.(3505-3507)TCC>TGC p.S1169C AUTS2_uc003tvx.3_Missense_Mutation_p.S1145C|AUTS2_uc011keg.1_Missense_Mutation_p.S621C NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1169 His-rich. 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) CGGCTCCACTCCGTGCACCCC 0.701 NaN 0 0 0 0.003755 0 32 110 PCLO 27445 broad.mit.edu 37 7 82546033 82546033 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:82546033T>C uc003uhx.2 - 7 11558 c.11269A>G c.(11269-11271)ATG>GTG p.M3757V PCLO_uc003uhv.2_Missense_Mutation_p.M3757V|PCLO_uc010lec.2_Missense_Mutation_p.M722V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3688 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCTCGTGCCATTGTGTTGGTT 0.473 NaN 0 0 0 0.005443 0 26 31 GRM3 2913 broad.mit.edu 37 7 86468800 86468800 + Nonsense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:86468800C>G uc003uid.2 + 4 3069 c.1970C>G c.(1969-1971)TCA>TGA p.S657* GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.S529*|GRM3_uc010leh.2_Nonsense_Mutation_p.S249* NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 657 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATCTGTTACTCAGCCCTGCTG 0.522 NaN 0 0 0 0.005524 0 38 111 DBF4 10926 broad.mit.edu 37 7 87537236 87537236 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:87537236G>A uc003ujf.1 + 12 2287 c.1783G>A c.(1783-1785)GAA>AAA p.E595K DBF4_uc003ujh.1_Missense_Mutation_p.E335K|DBF4_uc003ujg.1_Missense_Mutation_p.E371K|DBF4_uc011khf.1_Missense_Mutation_p.E362K NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 595 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) ACCAAATGCTGAATTTGATAA 0.308 NaN 0 0 0 0.007835 0 39 45 ADAM22 53616 broad.mit.edu 37 7 87778343 87778343 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:87778343C>T uc003ujn.2 + 18 1616 c.1537C>T c.(1537-1539)CGT>TGT p.R513C ADAM22_uc003ujk.1_Missense_Mutation_p.R513C|ADAM22_uc003ujl.1_Missense_Mutation_p.R513C|ADAM22_uc003ujm.2_Missense_Mutation_p.R513C|ADAM22_uc003ujo.2_Missense_Mutation_p.R513C|ADAM22_uc003ujp.1_Missense_Mutation_p.R565C NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 513 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTGTGATATTCGTGAAACGTG 0.383 NaN 0 0 0 0.001984 0 6 29 STEAP4 79689 broad.mit.edu 37 7 87913437 87913437 + Nonsense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:87913437G>A uc003ujs.2 - 2 253 c.148C>T c.(148-150)CGA>TGA p.R50* STEAP4_uc010lek.2_Nonsense_Mutation_p.R50*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.R50* NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 50 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) TGGGGGTTTCGACTTCCAAAA 0.438 NaN 0 0 0 0.01441 0 55 55 SAMD9 54809 broad.mit.edu 37 7 92734156 92734156 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:92734156T>C uc003umf.2 - 3 1511 c.1255A>G c.(1255-1257)AAA>GAA p.K419E SAMD9_uc003umg.2_Missense_Mutation_p.K419E NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 419 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGGTGGCATTTATTTGTTACA 0.328 NaN 0 0 0 0.008871 0 20 16 PTPRZ1 5803 broad.mit.edu 37 7 121652861 121652861 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:121652861C>G uc003vjy.2 + 12 4156 c.3761C>G c.(3760-3762)TCT>TGT p.S1254C PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1254 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CATATGCACTCTGCTTCACTT 0.388 NaN 0 0 0 0.013114 0 46 64 STRA8 346673 broad.mit.edu 37 7 134925346 134925346 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:134925346G>C uc011kpx.1 + 2 136 c.136G>C c.(136-138)GAG>CAG p.E46Q NM_182489 NP_872295 Q7Z7C7 STRA8_HUMAN STRA8 46 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus 0 ACAGCTGCAGGAGCTTGAGCA 0.552 NaN 0 0 0 0.003755 0 26 117 RBM33 155435 broad.mit.edu 37 7 155511101 155511101 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:155511101C>G uc010lqk.1 + 9 1592 c.1224C>G c.(1222-1224)AGC>AGG p.S408R RBM33_uc011kvv.1_Missense_Mutation_p.S217R NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 408 Pro-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CAGTTCCGAGCCAGCCGAGAC 0.458 NaN 0 0 0 0.004007 0 15 65 VIPR2 7434 broad.mit.edu 37 7 158824561 158824561 + Splice_Site SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr7:158824561C>T uc003woh.2 - 12 1288 c.1102_splice c.e12-1 p.G368_splice VIPR2_uc010lqx.2_Splice_Site NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CCACCAGGCCCTGCAATGAGA 0.597 NaN 0 0 0 0.01441 0 92 61 FBXO25 26260 broad.mit.edu 37 8 385664 385664 + Nonsense_Mutation SNP C C G rs140242296 byFrequency TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:385664C>G uc003wox.2 + 5 604 c.338C>G c.(337-339)TCA>TGA p.S113* FBXO25_uc003woy.2_Nonsense_Mutation_p.S113*|FBXO25_uc003woz.2_Nonsense_Mutation_p.S46*|FBXO25_uc003wpa.2_5'UTR NM_183421 NP_904357 Q8TCJ0 FBX25_HUMAN F-box only protein 25 isoform 1 113 nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity lung(1) 1 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) TTAGACTTCTCAAGTGCAATT 0.348 NaN 0 0 0 0.01441 0 49 40 CSMD1 64478 broad.mit.edu 37 8 3141781 3141781 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:3141781C>A uc011kwk.1 - 26 4431 c.4041G>T c.(4039-4041)AAG>AAT p.K1347N CSMD1_uc011kwj.1_Missense_Mutation_p.K739N|CSMD1_uc003wqe.2_Missense_Mutation_p.K503N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1347 Extracellular (Potential).|CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACTCCACTCCTTCAGCAGGA 0.557 NaN OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 6.31663e-08 0.003163 6.50241e-08 15 19 XPO7 23039 broad.mit.edu 37 8 21840321 21840321 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:21840321G>A uc003xaa.3 + 11 1377 c.1275G>A c.(1273-1275)CTG>CTA p.L425L XPO7_uc010lti.2_Silent_p.L434L|XPO7_uc010ltk.2_Silent_p.L426L NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 425 Missing (in Ref. 3; BAA34465). mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) ACATCATACTGAGGTAAGGAA 0.507 NaN 0 0 0 0.00623 0 40 45 HR 55806 broad.mit.edu 37 8 21978464 21978464 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:21978464C>A uc003xas.2 - 11 3040 c.2375G>T c.(2374-2376)CGC>CTC p.R792L HR_uc003xat.2_Missense_Mutation_p.R792L NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 792 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTTGGTGATGCGGTCATCCTG 0.672 NaN 1 0 1.9806e-07 0.014323 2.03425e-07 23 25 BMP1 649 broad.mit.edu 37 8 22035399 22035399 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:22035399G>A uc003xbg.2 + 6 1009 c.765G>A c.(763-765)CAG>CAA p.Q255Q BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Silent_p.Q255Q|BMP1_uc003xbb.2_Silent_p.Q255Q|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.Q4Q|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.Q4Q|BMP1_uc011kzc.1_Silent_p.Q4Q|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 255 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGGAGCCTCAGGAGGTGGAGT 0.592 NaN 0 0 0 0.01441 0 102 369 ADRA1A 148 broad.mit.edu 37 8 26722121 26722121 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:26722121G>C uc003xfh.1 - 1 802 c.366C>G c.(364-366)ATC>ATG p.I122M ADRA1A_uc003xfc.1_Missense_Mutation_p.I122M|ADRA1A_uc010lul.1_Missense_Mutation_p.I122M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.I122M|ADRA1A_uc010lum.1_Missense_Mutation_p.I122M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.I122M NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 122 Helical; Name=3; (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TGTAGCGGTCGATGGAGATGA 0.627 NaN 0 0 0 0.01441 0 102 100 NRG1 3084 broad.mit.edu 37 8 31498210 31498210 + Missense_Mutation SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:31498210A>G uc003xip.2 + 1 943 c.710A>G c.(709-711)AAG>AGG p.K237R NM_013962 NP_039256 Q02297 NRG1_HUMAN neuregulin 1 isoform GGF2 22 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CGGAACCTCAAGAAGGAGGTC 0.701 NaN 0 0 0 0.006214 0 7 37 KCNU1 157855 broad.mit.edu 37 8 36644882 36644882 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:36644882G>A uc010lvw.2 + 2 341 c.254G>A c.(253-255)GGA>GAA p.G85E KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 85 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CACTTCCAGGGACAATTTCGT 0.423 NaN 0 0 0 0.013537 0 13 12 ANK1 286 broad.mit.edu 37 8 41519393 41519393 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:41519393C>G uc003xok.2 - 41 5629 c.5545G>C c.(5545-5547)GTG>CTG p.V1849L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Splice_Site_p.E1002_splice|ANK1_uc003xoi.2_Splice_Site_p.E1848_splice|ANK1_uc003xoj.2_Splice_Site_p.E1848_splice|ANK1_uc003xol.2_Missense_Mutation_p.V1687L|ANK1_uc003xom.2_Splice_Site_p.E1889_splice|ANK1_uc011lcl.1_Splice_Site_p.E123_splice|ANK1_uc003xod.2_Splice_Site_p.E123_splice|ANK1_uc003xoc.2_Missense_Mutation_p.V124L|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1849 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCTACAGTCACCTCCTCGTGC 0.582 NaN 0 0 0 0.011902 0 46 385 KIAA0146 23514 broad.mit.edu 37 8 48626144 48626144 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:48626144C>A uc003xqd.2 + 16 2291 c.2282C>A c.(2281-2283)CCG>CAG p.P761Q KIAA0146_uc011ldc.1_Missense_Mutation_p.P691Q|KIAA0146_uc011ldd.1_Missense_Mutation_p.P701Q|KIAA0146_uc003xqe.2_Missense_Mutation_p.P236Q|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Missense_Mutation_p.P450Q|KIAA0146_uc011ldf.1_Missense_Mutation_p.P266Q|KIAA0146_uc011ldg.1_Missense_Mutation_p.P251Q|KIAA0146_uc003xqg.1_RNA NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 761 0 Lung NSC(58;0.175) CTGCCTGGCCCGGTGATGCTC 0.527 NaN 1 0 4.7796e-09 0.004656 4.9538e-09 24 100 PRKDC 5591 broad.mit.edu 37 8 48719847 48719847 + Missense_Mutation SNP G G C rs150449253 by1000genomes TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:48719847G>C uc003xqi.2 - 70 9655 c.9598C>G c.(9598-9600)CTT>GTT p.L3200V PRKDC_uc003xqj.2_Missense_Mutation_p.L3200V|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3200 KIP-binding.|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) TCTTCTGGAAGAGGGGTAAGC 0.438 NaN NHEJ 0 0 0 0.004656 0 27 130 PRKDC 5591 broad.mit.edu 37 8 48815271 48815271 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:48815271G>C uc003xqi.2 - 27 3184 c.3127C>G c.(3127-3129)CAA>GAA p.Q1043E PRKDC_uc003xqj.2_Missense_Mutation_p.Q1043E|PRKDC_uc011ldh.1_Missense_Mutation_p.Q1043E NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1043 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) GGTGTTATTTGCTTAATGGAC 0.423 NaN NHEJ 0 0 0 0.001984 0 7 54 YTHDF3 253943 broad.mit.edu 37 8 64099876 64099876 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:64099876C>G uc003xuy.2 + 5 1623 c.1307C>G c.(1306-1308)TCT>TGT p.S436C YTHDF3_uc010lys.2_Missense_Mutation_p.S380C|YTHDF3_uc003xuz.2_Missense_Mutation_p.S380C|YTHDF3_uc003xva.2_Missense_Mutation_p.S380C|YTHDF3_uc011len.1_Missense_Mutation_p.S380C NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 436 YTH. 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) ATTAAATACTCTATCTGGTGT 0.398 NaN 0 0 0 0.004656 0 25 88 PREX2 80243 broad.mit.edu 37 8 68931794 68931794 + Nonsense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:68931794C>G uc003xxv.1 + 3 251 c.224C>G c.(223-225)TCA>TGA p.S75* PREX2_uc003xxu.1_Nonsense_Mutation_p.S75*|PREX2_uc011lez.1_Intron NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 75 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ATGTTGTTCTCAAACATTGAA 0.363 NaN 0 0 0 0.016522 0 23 12 TRPA1 8989 broad.mit.edu 37 8 72973899 72973899 + Missense_Mutation SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:72973899A>G uc003xza.2 - 7 1080 c.905T>C c.(904-906)GTT>GCT p.V302A NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 302 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GGTTGTGTTAACAATATCCAC 0.428 NaN 0 0 0 0.015359 0 31 107 ZFHX4 79776 broad.mit.edu 37 8 77616680 77616680 + Missense_Mutation SNP A A C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:77616680A>C uc003yav.2 + 2 744 c.357A>C c.(355-357)TTA>TTC p.L119F ZFHX4_uc003yat.1_Missense_Mutation_p.L119F|ZFHX4_uc003yau.1_Missense_Mutation_p.L119F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L119F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 119 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCAGCGAGTTAGAGGACAGTG 0.483 NaN HNSCC(33;0.089) 0 0 0 0.003954 0 25 177 PKHD1L1 93035 broad.mit.edu 37 8 110477234 110477234 + Missense_Mutation SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:110477234G>T uc003yne.2 + 49 8277 c.8173G>T c.(8173-8175)GCA>TCA p.A2725S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2725 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTGCACAGCAAAAGGCCT 0.468 NaN HNSCC(38;0.096) 1 0 1.57351e-24 0.003755 1.68063e-24 36 149 LRRC6 23639 broad.mit.edu 37 8 133623595 133623595 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:133623595G>C uc003ytk.2 - 9 1063 c.989C>G c.(988-990)TCT>TGT p.S330C LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 330 CS. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ATCGATTAAAGAGGTATCCAT 0.313 NaN 0 0 0 0.003954 0 24 26 PHF20L1 51105 broad.mit.edu 37 8 133844494 133844494 + Nonsense_Mutation SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr8:133844494G>T uc003ytt.2 + 15 2084 c.1759G>T c.(1759-1761)GAA>TAA p.E587* PHF20L1_uc011lja.1_Nonsense_Mutation_p.E561* NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 587 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTCAGACTATGAAGACAGTTC 0.368 NaN 1 0 1.45978e-39 0.01441 1.58143e-39 70 65 PTPRD 5789 broad.mit.edu 37 9 8521491 8521491 + Silent SNP T T A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:8521491T>A uc003zkk.2 - 19 1458 c.747A>T c.(745-747)CCA>CCT p.P249P PTPRD_uc003zkp.2_Silent_p.P249P|PTPRD_uc003zkq.2_Silent_p.P249P|PTPRD_uc003zkr.2_Silent_p.P243P|PTPRD_uc003zks.2_Silent_p.P239P|PTPRD_uc003zkl.2_Silent_p.P249P|PTPRD_uc003zkm.2_Silent_p.P236P|PTPRD_uc003zkn.2_Silent_p.P249P|PTPRD_uc003zko.2_Silent_p.P246P NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 249 Extracellular (Potential).|Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CGCTTCCGCCTGGCATGATTT 0.468 NaN TSP Lung(15;0.13) 0 0 0 0.012319 0 22 61 RPS6 6194 broad.mit.edu 37 9 19376356 19376356 + Missense_Mutation SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:19376356C>A uc003znv.1 - 6 727 c.685G>T c.(685-687)GCG>TCG p.A229S RPS6_uc003znu.1_Missense_Mutation_p.A198S NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 229 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) CGTCTCTTCGCAATTTGTTCC 0.413 NaN 1 0 1.62565e-12 0.012213 1.70039e-12 32 119 TEK 7010 broad.mit.edu 37 9 27169599 27169599 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:27169599C>T uc003zqi.3 + 4 1042 c.600C>T c.(598-600)ACC>ACT p.T200T TEK_uc010mjc.1_Silent_p.T53T|TEK_uc011lnn.1_Silent_p.T200T|TEK_uc011lno.1_Silent_p.T200T|TEK_uc011lnp.1_Silent_p.T96T|TEK_uc003zqj.1_Silent_p.T177T NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 200 Extracellular (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACCTCTTCACCTCGGCCTTCA 0.448 NaN 0 0 0 0.00499 0 18 82 ZBTB5 9925 broad.mit.edu 37 9 37441201 37441201 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:37441201G>C uc003zzx.2 - 2 1548 c.1348C>G c.(1348-1350)CCA>GCA p.P450A NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CCAGCCTCTGGACTCAACAAA 0.517 NaN 0 0 0 0.007291 0 28 52 TRPM6 140803 broad.mit.edu 37 9 77376977 77376977 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:77376977G>A uc004ajl.1 - 26 4848 c.4610C>T c.(4609-4611)GCT>GTT p.A1537V TRPM6_uc004ajk.1_Missense_Mutation_p.A1532V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.A493V NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1537 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ATGACTCCTAGCGAAGGGCCT 0.413 NaN 0 0 0 0.00632 0 28 15 C9orf64 84267 broad.mit.edu 37 9 86571141 86571141 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:86571141C>G uc004anb.2 - 1 523 c.275G>C c.(274-276)AGA>ACA p.R92T C9orf64_uc004anc.2_5'UTR NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 92 0 TGTTTTCCCTCTGTACCTCAC 0.592 NaN 0 0 0 0.01441 0 84 59 FAM22G 441457 broad.mit.edu 37 9 99697725 99697725 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:99697725G>A uc004awq.1 + 3 1544 c.829G>A c.(829-831)GAG>AAG p.E277K HIATL2_uc004awr.1_Intron NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 277 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) GATTTTCTACGAGATGGCGGC 0.652 NaN 0 0 0 0.005524 0 40 73 BAAT 570 broad.mit.edu 37 9 104130470 104130470 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:104130470G>A uc010mtd.2 - 3 710 c.601C>T c.(601-603)CGC>TGC p.R201C BAAT_uc004bbd.3_Missense_Mutation_p.R201C NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 201 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TCTGGTTTGCGGGGCAGGTCT 0.493 NaN 0 0 0 0.008871 0 17 56 OR1J1 347168 broad.mit.edu 37 9 125239256 125239256 + Missense_Mutation SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:125239256A>G uc011lyu.1 - 1 950 c.950T>C c.(949-951)CTC>CCC p.L317P OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 317 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 caaagtgttgagattacaggc 0.124 NaN 0 0 0 0.001984 0 6 50 SPTAN1 6709 broad.mit.edu 37 9 131346653 131346653 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:131346653C>T uc004bvl.3 + 17 2399 c.2286C>T c.(2284-2286)CTC>CTT p.L762L SPTAN1_uc011mbg.1_Silent_p.L762L|SPTAN1_uc011mbh.1_Silent_p.L774L|SPTAN1_uc004bvm.3_Silent_p.L762L|SPTAN1_uc004bvn.3_Silent_p.L762L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 762 Spectrin 8. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGGAAGCCCTCGTGGCTCGCT 0.547 NaN 0 0 0 0.005443 0 25 9 SPTAN1 6709 broad.mit.edu 37 9 131347041 131347041 + Nonsense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:131347041C>T uc004bvl.3 + 18 2592 c.2479C>T c.(2479-2481)CAA>TAA p.Q827* SPTAN1_uc011mbg.1_Nonsense_Mutation_p.Q827*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.Q839*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.Q827*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.Q827* NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 827 Spectrin 9. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AAAGAAACATCAAGCCTTACA 0.448 NaN 0 0 0 0.01441 0 59 25 SEC16A 9919 broad.mit.edu 37 9 139368716 139368716 + Missense_Mutation SNP G G T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr9:139368716G>T uc004chx.2 - 3 3661 c.3352C>A c.(3352-3354)CAG>AAG p.Q1118K SEC16A_uc004chv.3_Missense_Mutation_p.Q508K|SEC16A_uc004chw.2_Missense_Mutation_p.Q1118K|SEC16A_uc010nbn.2_Missense_Mutation_p.Q1118K|SEC16A_uc010nbo.1_Missense_Mutation_p.Q1118K NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 940 Pro-rich.|Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CTAGAGGACTGAGGAGGCCGA 0.667 NaN 1 0 4.31634e-10 0.012213 4.49413e-10 26 20 DDX53 168400 broad.mit.edu 37 X 23019522 23019522 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:23019522G>C uc004daj.2 + 1 1436 c.1348G>C c.(1348-1350)GAA>CAA p.E450Q NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 450 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 TGTTACCACAGAAAAAGAAAA 0.353 NaN 0 0 0 0.001168 0 6 75 FAM47A 158724 broad.mit.edu 37 X 34148659 34148659 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:34148659G>A uc004ddg.2 - 1 1770 c.1737C>T c.(1735-1737)TAC>TAT p.Y579Y NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 579 ovary(4)|central_nervous_system(1) 5 GTTCTTTTATGTAGGATGCTC 0.483 NaN 0 0 0 0.00874 0 43 10 RPGR 6103 broad.mit.edu 37 X 38147249 38147249 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:38147249C>G uc004ded.1 - 14 1786 c.1618G>C c.(1618-1620)GAA>CAA p.E540Q RPGR_uc004deb.2_Missense_Mutation_p.E540Q|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 540 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TCATCGTTTTCAGTAAGAGCT 0.358 NaN 0 0 0 0.01441 0 44 15 MED14 9282 broad.mit.edu 37 X 40540142 40540142 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:40540142C>A uc004dex.3 - 20 2618 c.2478G>T c.(2476-2478)TCG>TCT p.S826S NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 826 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 TTTGATGGATCGAATTCCATT 0.328 NaN 1 0 6.4e-05 0.004672 6.5e-05 3 14 HUWE1 10075 broad.mit.edu 37 X 53578103 53578103 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:53578103C>T uc004dsp.2 - 65 9546 c.9144G>A c.(9142-9144)CAG>CAA p.Q3048Q HUWE1_uc004dsn.2_Silent_p.Q1856Q NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3048 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGCTGGCATTCTGTGCTAGTT 0.562 NaN 0 0 0 0.010771 0 45 15 HUWE1 10075 broad.mit.edu 37 X 53578136 53578136 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:53578136C>G uc004dsp.2 - 65 9513 c.9111G>C c.(9109-9111)CAG>CAC p.Q3037H HUWE1_uc004dsn.2_Missense_Mutation_p.Q1845H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3037 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GCTCAGCTCTCTGCTGTGCCA 0.577 NaN 0 0 0 0.005524 0 39 15 TRO 7216 broad.mit.edu 37 X 54957054 54957054 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:54957054C>T uc004dtq.2 + 12 4004 c.3897C>T c.(3895-3897)TTC>TTT p.F1299F TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.F830F|TRO_uc004dtw.2_Silent_p.F902F|TRO_uc004dtx.2_Silent_p.F682F NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1299 49.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ATGCTAGTTTCGGCAGCACAC 0.582 NaN 0 0 0 0.01441 0 68 18 UBQLN2 29978 broad.mit.edu 37 X 56590882 56590882 + Missense_Mutation SNP G G C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:56590882G>C uc004dus.2 + 1 811 c.576G>C c.(574-576)CAG>CAC p.Q192H UBQLN2_uc011moq.1_Missense_Mutation_p.Q192H NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 192 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 CCTTTGTTCAGAGCATGCTTT 0.478 NaN 0 0 0 0.01441 0 59 22 CSTF2 1478 broad.mit.edu 37 X 100086569 100086569 + Silent SNP C C A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:100086569C>A uc004egh.2 + 9 1013 c.955C>A c.(955-957)CGA>AGA p.R319R CSTF2_uc010nnd.2_Silent_p.R339R|CSTF2_uc004egi.2_Silent_p.R302R NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 319 Gly/Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 CCCAACCCCTCGAGGCTTGTT 0.532 NaN 1 0 9.82936e-54 0.01441 1.06994e-53 95 14 ODZ1 10178 broad.mit.edu 37 X 123516590 123516590 + Missense_Mutation SNP A A G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:123516590A>G uc004euj.2 - 30 7413 c.7349T>C c.(7348-7350)TTA>TCA p.L2450S ODZ1_uc011muj.1_Missense_Mutation_p.L2456S|ODZ1_uc010nqy.2_Missense_Mutation_p.L2457S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2450 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TAAATTTTCTAATTCAGGTTT 0.353 NaN 0 0 0 0.01441 0 100 24 MAGEA4 4103 broad.mit.edu 37 X 151092370 151092370 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:151092370C>T uc004fez.2 + 3 390 c.234C>T c.(232-234)TTC>TTT p.F78F MAGEA4_uc004ffa.2_Silent_p.F78F|MAGEA4_uc004ffb.2_Silent_p.F78F|MAGEA4_uc004ffc.2_Silent_p.F78F|MAGEA4_uc004ffd.2_Silent_p.F78F NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 78 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCATCAGCTTCACTTGCTGGA 0.602 NaN 0 0 0 0.01441 0 90 25 CTAG2 30848 broad.mit.edu 37 X 153880627 153880627 + Missense_Mutation SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:153880627G>A uc004fmi.1 - 2 601 c.548C>T c.(547-549)CCA>CTA p.P183L CTAG2_uc004fmh.1_Intron NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 183 Poly-Pro. centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGCGGGCCTGGTGTACCAGG 0.607 NaN 0 0 0 0.01441 0 117 37 TXNIP 10628 broad.mit.edu 37 1 145440778 145440779 + Frame_Shift_Ins INS - - A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 - A - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr1:145440778_145440779insA uc001enn.3 + 6 1319_1320 c.978_979insA c.(976-981)GATACCfs p.D326fs NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Ins_p.D271fs NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 326_327 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACATCCCTGATACCCCAGAAGG 0.48 NaN NaN NaN NaN NaN NaN 34 140 --- --- PPP1R3C 5507 broad.mit.edu 37 10 93390301 93390311 + Frame_Shift_Del DEL GCAGATCCCAC GCAGATCCCAC - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:93390301_93390311delGCAGATCCCAC uc001kho.2 - 2 459_469 c.327_337delGTGGGATCTGC c.(325-339)GCGTGGGATCTGCAGfs p.A109fs NM_005398 NP_005389 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory (inhibitor) 109_113 protein serine/threonine phosphatase activity breast(1) 1 Colorectal(252;0.235) AGATCAAACTGCAGATCCCACGCTGGTTCTT 0.483 NaN NaN NaN NaN NaN NaN 104 81 --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105372779 105372780 + Frame_Shift_Ins INS - - G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:105372779_105372780insG uc001kxj.1 - 11 1144_1145 c.1004_1005insC c.(1003-1005)CCAfs p.P335fs SH3PXD2A_uc010qqr.1_Frame_Shift_Ins_p.P225fs|SH3PXD2A_uc010qqs.1_Frame_Shift_Ins_p.P170fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Ins_p.P212fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Ins_p.P170fs|SH3PXD2A_uc010qqu.1_Frame_Shift_Ins_p.P278fs NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 363 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CGCCTTCGGCTGGTGGAGTTTC 0.589 NaN NaN NaN NaN NaN NaN 7 463 --- --- MKI67 4288 broad.mit.edu 37 10 129903675 129903676 + Frame_Shift_Ins INS - - T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr10:129903675_129903676insT uc001lke.2 - 13 6623_6624 c.6428_6429insA c.(6427-6429)ACCfs p.T2143fs MKI67_uc001lkf.2_Frame_Shift_Ins_p.T1783fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1718fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T1293fs NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2143 16 X 122 AA approximate repeats.|10. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGTGTGTGTGGTCTGTGTGAG 0.495 NaN NaN NaN NaN NaN NaN 15 478 --- --- MTL5 9633 broad.mit.edu 37 11 68480836 68480836 + Frame_Shift_Del DEL T T - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:68480836delT uc001ooc.2 - 8 1200 c.1060delA c.(1060-1062)ATTfs p.I354fs NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 354 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CCCTTCCCAATTTTTGGCTGG 0.473 NaN NaN NaN NaN NaN NaN 8 2935 --- --- CCND1 595 broad.mit.edu 37 11 69465988 69465990 + In_Frame_Del DEL GAG GAG - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr11:69465988_69465990delGAG uc001opa.2 + 5 1035_1037 c.826_828delGAG c.(826-828)GAGdel p.E280del NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 280 Poly-Glu. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) ggaggaggaagaggaggaggagg 0.606 NaN T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) NaN NaN NaN NaN NaN 8 1559 --- --- LRRIQ1 84125 broad.mit.edu 37 12 85438589 85438590 + Splice_Site DEL TA TA - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr12:85438589_85438590delTA uc001tac.2 + 4 447 c.336_splice c.e4+2 p.K112_splice LRRIQ1_uc001tab.1_Splice_Site_p.K112_splice|LRRIQ1_uc001taa.1_Splice_Site_p.K112_splice|LRRIQ1_uc001tad.2_Splice_Site_p.K20_splice NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TTAATTAAGGTATATATTCAAT 0.272 NaN NaN NaN NaN NaN NaN 29 35 --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr13:25671333delA uc001upy.2 + 1 1058 c.997delA c.(997-999)AAAfs p.K333fs NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 NaN NaN NaN NaN NaN NaN 7 229 --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr16:3119304_3119305insG uc002cto.2 + 6 864_865 c.653_654insG c.(652-654)GACfs p.D218fs IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 218 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 CCACGGGGGGACAAGGAGGAGC 0.574 NaN NaN NaN NaN NaN NaN 9 607 --- --- TP53 7157 broad.mit.edu 37 17 7579315 7579316 + Frame_Shift_Ins INS - - C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 - C - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr17:7579315_7579316insC uc002gim.2 - 4 565_566 c.371_372insG c.(370-372)TGCfs p.C124fs TP53_uc002gig.1_Frame_Shift_Ins_p.C124fs|TP53_uc002gih.2_Frame_Shift_Ins_p.C124fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.C124fs|TP53_uc010cni.1_Frame_Shift_Ins_p.C124fs|TP53_uc002gij.2_Frame_Shift_Ins_p.C124fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.C85fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.C139fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 124 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> R (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> S (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.0?(7)|p.C124R(4)|p.G59fs*23(3)|p.C124fs*46(2)|p.C124G(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.C124fs*0(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124Y(1)|p.C124fs*25(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) AACTGACCGTGCAAGTCACAGA 0.545 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NaN NaN NaN NaN NaN 96 38 --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:38882864_38882866delCCT uc002oim.2 + 3 363_365 c.359_361delCCT c.(358-363)CCCTCC>CCC p.S128del SPRED3_uc002oil.1_In_Frame_Del_p.S128del NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 128 Ser-rich. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.537 NaN NaN NaN NaN NaN NaN 12 169 --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:38899502_38899504delAAG uc002oin.1 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)AAGdel p.K349del FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 349 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 NaN NaN NaN NaN NaN NaN 13 249 --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr19:46299147_46299149delCCT uc002pdm.2 - 6 2275_2277 c.2132_2134delAGG c.(2131-2136)GAGGGC>GGC p.E711del RSPH6A_uc002pdl.2_In_Frame_Del_p.E447del NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 711 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 GTctcctcgccctcctcctcctc 0.409 NaN NaN NaN NaN NaN NaN 22 739 --- --- MED15 51586 broad.mit.edu 37 22 20920813 20920814 + In_Frame_Ins INS - - CAG TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr22:20920813_20920814insCAG uc002zsp.2 + 7 830_831 c.750_751insCAG c.(748-753)insCAG p.262_263insQ MED15_uc002zso.2_In_Frame_Ins_p.191_192insQ|MED15_uc002zsq.2_In_Frame_Ins_p.262_263insQ|MED15_uc010gso.2_In_Frame_Ins_p.262_263insQ|MED15_uc002zsr.2_In_Frame_Ins_p.236_237insQ|MED15_uc011ahs.1_In_Frame_Ins_p.236_237insQ|MED15_uc002zss.2_In_Frame_Ins_p.181_182insQ|MED15_uc011ahu.1_5'UTR NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 262_263 Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) aacaacagcaacagcagcagca 0.312 NaN NaN NaN NaN NaN NaN 13 116 --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:184039744_184039746delGAA uc003fnp.2 + 10 1570_1572 c.1372_1374delGAA c.(1372-1374)GAAdel p.E465del EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.443 NaN NaN NaN NaN NaN NaN 12 668 --- --- TNK2 10188 broad.mit.edu 37 3 195599180 195599181 + Frame_Shift_Ins INS - - G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr3:195599180_195599181insG uc003fvu.1 - 10 1960_1961 c.1417_1418insC c.(1417-1419)CGCfs p.R473fs TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Ins_p.R505fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.R536fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.R303fs NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 473 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCAGCAGTGGCGGGGGTCACTG 0.673 NaN NaN NaN NaN NaN NaN 19 288 --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:89618431_89618433delCCT uc003hrx.2 - 1 591_593 c.473_475delAGG c.(472-477)GAGGCT>GCT p.E158del HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron NM_153757 NP_715638 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.389 NaN NaN NaN NaN NaN NaN 7 304 --- --- PCDH10 57575 broad.mit.edu 37 4 134072435 134072435 + Frame_Shift_Del DEL C C - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr4:134072435delC uc003iha.2 + 1 1966 c.1140delC c.(1138-1140)TTCfs p.F380fs uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Del_p.F380fs NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 380 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGGCCCTTTTCAGCGTGACTG 0.577 NaN NaN NaN NaN NaN NaN 202 192 --- --- HIST1H1A 3024 broad.mit.edu 37 6 26017448 26017448 + Frame_Shift_Del DEL T T - TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chr6:26017448delT uc003nfo.2 - 1 593 c.513delA c.(511-513)AAAfs p.K171fs NM_005325 NP_005316 Q02539 H11_HUMAN histone cluster 1, H1a 171 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding ovary(2) 2 CAGTTTTGGGTTTTTTTGGAT 0.483 NaN NaN NaN NaN NaN NaN 7 1492 --- --- KDM6A 7403 broad.mit.edu 37 X 44950105 44950111 + Splice_Site DEL ATTAAGT ATTAAGT - rs148188315 TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 ATTAAGT - ATTAAGT ATTAAGT Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx df8a913c-5160-4fc5-950d-7c890e24e820 fcdb086f-6e88-49ce-a202-b611584a080c g.chrX:44950105_44950111delATTAAGT uc004dge.3 + 26 4253 c.3878_splice c.e26+1 p.K1293_splice KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TTTTGAAATGATTAAGTAAGTCTTTTC 0.353 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 18 16 --- ---