Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut HSPG2 3339 broad.mit.edu 37 1 22157584 22157584 + Splice_Site SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:22157584C>G uc001bfj.2 - 85 11603 c.11563_splice c.e85-1 p.N3855_splice HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Splice_Site_p.N3856_splice NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GACCGCCATTCTGCAAAGCAG 0.637 NA 3 18 0 0 0 0 FNDC5 252995 broad.mit.edu 37 1 33330273 33330273 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:33330273G>T uc001bwg.2 - 5 615 c.400C>A c.(400-402)CGC>AGC p.R134S FNDC5_uc001bwe.2_RNA|FNDC5_uc001bwf.1_Missense_Mutation_p.R134S NM_153756 NP_715637 Q8NAU1 FNDC5_HUMAN fibronectin type III domain containing 5 193 Cytoplasmic (Potential). integral to membrane|peroxisomal membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCTTGCTGCGGAGAAGCCCC 0.577 NA 11 38 3.07e-06 5.41e-06 1 0 CSMD2 114784 broad.mit.edu 37 1 34092182 34092182 + Splice_Site SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:34092182C>T uc001bxn.1 - 33 5110 c.5081_splice c.e33-1 p.G1694_splice CSMD2_uc001bxm.1_Splice_Site_p.G1734_splice|CSMD2_uc001bxo.1_Splice_Site_p.G607_splice NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGTGATTCTCCTGCCGAGATA 0.557 NA 5 11 0 0 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580175 35580175 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:35580175G>C uc001bym.2 + 11 2892 c.2744G>C c.(2743-2745)GGA>GCA p.G915A ZMYM1_uc001byn.2_Missense_Mutation_p.G915A|ZMYM1_uc010ohu.1_Missense_Mutation_p.G896A|ZMYM1_uc001byo.2_Missense_Mutation_p.G555A|ZMYM1_uc009vut.2_Missense_Mutation_p.G840A NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 915 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCTGGGATGGAACAGAGGAA 0.294 NA 4 19 0 0 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45516821 45516821 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:45516821G>C uc001cnd.2 - 5 1585 c.1357C>G c.(1357-1359)CTG>GTG p.L453V NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 453 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) CCATCCTCCAGGGGACAGACA 0.517 NA 35 56 0 0 0 0 ACOT11 26027 broad.mit.edu 37 1 55059688 55059688 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:55059688C>T uc001cxm.1 + 5 529 c.447C>T c.(445-447)TTC>TTT p.F149F ACOT11_uc001cxj.1_Silent_p.F27F|ACOT11_uc001cxk.2_Silent_p.F115F|ACOT11_uc001cxl.1_Silent_p.F149F NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 149 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 TGGCCACCTTCGTGGCCCGCC 0.632 NA 8 49 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 98015229 98015229 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:98015229T>A uc001drv.2 - 12 1548 c.1411A>T c.(1411-1413)ACT>TCT p.T471S NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 471 FAD (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCTTCACTAGTTTGCATAGTT 0.403 NA 10 21 0 0 0 0 SYPL2 284612 broad.mit.edu 37 1 110020605 110020605 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:110020605T>A uc001dxp.2 + 5 988 c.622T>A c.(622-624)TCT>ACT p.S208T SYPL2_uc001dxo.2_Missense_Mutation_p.S208T|SYPL2_uc010ovk.1_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.S116T NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 208 Vesicular (Potential).|MARVEL. integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GGCCACGCCCTCTATGGGCCT 0.637 NA 9 29 0 0 0 0 TRIM45 80263 broad.mit.edu 37 1 117656090 117656090 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:117656090C>G uc001egz.2 - 5 2073 c.1485G>C c.(1483-1485)GTG>GTC p.V495V TRIM45_uc009whe.2_Silent_p.V477V|TRIM45_uc001eha.2_Silent_p.V391V NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 495 Filamin. cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TCCTCACCATCACAGTGAATG 0.552 NA 8 14 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152277553 152277553 + Missense_Mutation SNP C C T rs147429418 byFrequency TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:152277553C>T uc001ezu.1 - 3 9845 c.9809G>A c.(9808-9810)CGC>CAC p.R3270H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3270 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) TTGTCTGGAGCGGTCTGCAGA 0.577 NA Ichthyosis 93 380 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152279054 152279054 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:152279054C>T uc001ezu.1 - 3 8344 c.8308G>A c.(8308-8310)GCA>ACA p.A2770T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2770 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) CTGTCTTGTGCCTGCTCATGG 0.587 NA Ichthyosis 17 587 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283044 152283044 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:152283044A>G uc001ezu.1 - 3 4354 c.4318T>C c.(4318-4320)TCT>CCT p.S1440P uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1440 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) TAGAGGAAAGACCTTGAACGT 0.587 NA Ichthyosis 15 273 0 0 0 0 CLK2 1196 broad.mit.edu 37 1 155240769 155240769 + Splice_Site SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:155240769C>G uc001fjy.2 - 2 291 c.1_splice c.e2-1 p.M1_splice RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Splice_Site_p.M1_splice|CLK2_uc001fjx.2_Splice_Site|CLK2_uc009wqm.2_Splice_Site_p.M1_splice NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GATGCGGCATCTGGAAGGCAA 0.527 NA Other_conserved_DNA_damage_response_genes 16 144 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156621474 156621474 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:156621474G>A uc001fpp.2 + 7 1626 c.1290G>A c.(1288-1290)ACG>ACA p.T430T BCAN_uc001fpo.2_Silent_p.T430T NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 430 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCTAGGACGCTCCTAGGTA 0.557 NA 16 80 0 0 0 0 NTRK1 4914 broad.mit.edu 37 1 156849868 156849868 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:156849868C>T uc001fqh.1 + 16 2180 c.2124C>T c.(2122-2124)AGC>AGT p.S708S NTRK1_uc001fqf.1_Silent_p.S672S|NTRK1_uc009wsi.1_Silent_p.S407S|NTRK1_uc001fqi.1_Silent_p.S702S|NTRK1_uc009wsk.1_Silent_p.S705S NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 708 Cytoplasmic (Potential).|Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCACCGAGAGCGACGTGTGGA 0.647 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 5 82 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157667698 157667698 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:157667698G>T uc001frb.2 - 5 602 c.310C>A c.(310-312)CTG>ATG p.L104M FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.L104M|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Translation_Start_Site|FCRL3_uc001frc.1_Missense_Mutation_p.L104M NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 104 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) AAAGCCTGCAGGATCAGCCAG 0.468 NA 7 27 8.13e-05 0.000138603 1 0 SPTA1 6708 broad.mit.edu 37 1 158595971 158595971 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:158595971C>A uc001fst.1 - 42 6074 c.5875G>T c.(5875-5877)GAC>TAC p.D1959Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1959 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCACCAAGGTCTGCACCATTG 0.423 NA 8 34 1.13e-05 1.97e-05 1 0 OR6K6 128371 broad.mit.edu 37 1 158724934 158724934 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:158724934T>G uc001fsw.1 + 1 329 c.329T>G c.(328-330)CTG>CGG p.L110R NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 110 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) CCCAAGATGCTGTCCTGCCTA 0.512 NA 35 113 0 0 0 0 IFI16 3428 broad.mit.edu 37 1 159021690 159021690 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:159021690C>G uc001ftg.2 + 9 2009 c.1719C>G c.(1717-1719)ATC>ATG p.I573M IFI16_uc010pis.1_Missense_Mutation_p.I573M|IFI16_uc001fth.2_Missense_Mutation_p.I116M|IFI16_uc010pit.1_Missense_Mutation_p.I172M NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 629 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) CAAAGAAGATCATTGCCATAG 0.423 NA 13 59 0 0 0 0 CASQ1 844 broad.mit.edu 37 1 160160609 160160609 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:160160609T>A uc010pja.1 + 1 325 c.68T>A c.(67-69)CTG>CAG p.L23Q NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 23 Poly-Leu. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGTTGCTGCTGGTGCTAGGG 0.592 NA 9 38 0 0 0 0 DCAF8 50717 broad.mit.edu 37 1 160209906 160209906 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:160209906C>G uc001fvo.2 - 4 616 c.304G>C c.(304-306)GAG>CAG p.E102Q DCAF8_uc001fvn.2_Missense_Mutation_p.E102Q|DCAF8_uc009wth.2_Missense_Mutation_p.E102Q|DCAF8_uc010pjb.1_Missense_Mutation_p.E102Q|DCAF8_uc010pjc.1_Missense_Mutation_p.E256Q|DCAF8_uc001fvq.3_Missense_Mutation_p.E102Q|DCAF8_uc001fvp.3_Missense_Mutation_p.E102Q|uc010pjd.1_3'UTR NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 102 CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 tcctcttcctcttcctctGAG 0.438 NA 3 28 0 0 0 0 F5 2153 broad.mit.edu 37 1 169511663 169511664 + Nonsense_Mutation DNP TA TA AT TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:169511663_169511664TA>AT uc001ggg.1 - 13 2809_2810 c.2664_2665TA>AT c.(2662-2667)CATAAA>CAATAA p.888_889HK>Q* NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 888_889 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) CTCCCAACTTTATGTGCTAGTA 0.475 NA 32 133 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175086104 175086104 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:175086104G>T uc001gkl.1 + 10 2262 c.2149G>T c.(2149-2151)GAC>TAC p.D717Y NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 717 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGGTGACCGACCGGGTGAC 0.512 NA 25 119 2.45e-14 4.86e-14 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525600 176525600 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:176525600G>C uc001gkz.2 + 2 1306 c.142G>C c.(142-144)GAA>CAA p.E48Q PAPPA2_uc001gky.1_Missense_Mutation_p.E48Q|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 48 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GTTGGAAGGAGAACGTTGTTG 0.572 NA 17 98 0 0 0 0 IER5 51278 broad.mit.edu 37 1 181058479 181058479 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:181058479G>C uc001got.3 + 1 842 c.441G>C c.(439-441)CCG>CCC p.P147P NM_016545 NP_057629 Q5VY09 IER5_HUMAN immediate early response 5 147 pancreas(1) 1 TGGAGGGGCCGCGCCAGGCGG 0.746 NA 3 9 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196920114 196920114 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:196920114G>T uc001gtq.1 + 3 463 c.386G>T c.(385-387)TGT>TTT p.C129F CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 129 Sushi 2. extracellular region skin(2)|ovary(1) 3 AACATTTCATGTGTAGAACGG 0.383 NA 7 51 0.00448238 0.00736304 1 0 CRB1 23418 broad.mit.edu 37 1 197403914 197403914 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:197403914C>A uc001gtz.2 + 9 3056 c.2921C>A c.(2920-2922)ACC>AAC p.T974N CRB1_uc010poz.1_Missense_Mutation_p.T950N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T862N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.T455N|CRB1_uc001gub.1_Missense_Mutation_p.T623N NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 974 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGAGAACTCACCAATATCACA 0.333 NA 8 42 0.00307968 0.00507958 1 0 PROX1 5629 broad.mit.edu 37 1 214170122 214170122 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:214170122G>C uc001hkh.2 + 2 516 c.244G>C c.(244-246)GAT>CAT p.D82H PROX1_uc001hkg.1_Missense_Mutation_p.D82H NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 82 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTCGTATGAAGATGCCATGAT 0.483 NA 4 83 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215821936 215821936 + Missense_Mutation SNP G G A rs139065588 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:215821936G>A uc001hku.1 - 66 14903 c.14516C>T c.(14515-14517)ACG>ATG p.T4839M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4839 Extracellular (Potential).|Fibronectin type-III 34. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAGGCCAGCGTCCCGATTTG 0.572 NA HNSCC(13;0.011) 23 65 0 0 0 0 TTC13 79573 broad.mit.edu 37 1 231076226 231076226 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:231076226C>A uc001huf.3 - 7 780 c.749G>T c.(748-750)CGG>CTG p.R250L TTC13_uc009xfi.2_Missense_Mutation_p.R197L|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R197L|TTC13_uc009xfk.1_Missense_Mutation_p.R140L NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 250 TPR 3. binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCTGTACAGCCGTGCTGAGGG 0.423 NA 7 35 0.00198382 0.00329456 1 0 ACTN2 88 broad.mit.edu 37 1 236900470 236900470 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:236900470G>C uc001hyf.2 + 9 1036 c.832G>C c.(832-834)GAG>CAG p.E278Q ACTN2_uc001hyg.2_Missense_Mutation_p.E70Q|ACTN2_uc009xgi.1_Missense_Mutation_p.E278Q|ACTN2_uc010pxu.1_Missense_Mutation_p.E63Q|ACTN2_uc001hyh.2_5'Flank NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 278 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGTGAATCAAGAGAATGAGAG 0.512 NA 7 45 0 0 0 0 MTR 4548 broad.mit.edu 37 1 236979822 236979822 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:236979822T>A uc001hyi.3 + 8 1166 c.743T>A c.(742-744)GTG>GAG p.V248E MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.V248E|MTR_uc010pxy.1_Missense_Mutation_p.V248E|MTR_uc009xgj.1_Missense_Mutation_p.C79S NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 248 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GTCATCAGCGTGTCTCATGGA 0.458 NA 26 101 0 0 0 0 WDR64 128025 broad.mit.edu 37 1 241953918 241953918 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:241953918C>G uc001hzf.1 + 14 1699 c.1546C>G c.(1546-1548)CTA>GTA p.L516V WDR64_uc001hzg.1_Missense_Mutation_p.L429V NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 963 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTCAGTGTCTCTACTTTTCAA 0.353 NA 26 84 0 0 0 0 C10orf18 54906 broad.mit.edu 37 10 5799599 5799599 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:5799599G>A uc001iij.2 + 17 7474 c.6849G>A c.(6847-6849)GTG>GTA p.V2283V C10orf18_uc001iik.2_Silent_p.V1127V NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2283 ovary(1)|central_nervous_system(1) 2 GAGGCTTTGTGATATCAGATG 0.428 NA 6 155 0 0 0 0 CELF2 10659 broad.mit.edu 37 10 11047378 11047378 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:11047378A>G uc001iki.3 + 1 120 c.28A>G c.(28-30)ATG>GTG p.M10V CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.M10V NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 10 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 CGCTGTTACTATGAGAAATGA 0.413 NA 6 182 0 0 0 0 ITGA8 8516 broad.mit.edu 37 10 15655677 15655677 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:15655677G>C uc001ioc.1 - 15 1535 c.1535C>G c.(1534-1536)TCT>TGT p.S512C ITGA8_uc010qcb.1_Missense_Mutation_p.S497C NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 512 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AGATGTCATAGAGTCTGGAAC 0.313 NA 17 112 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26414348 26414348 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:26414348G>A uc001isn.2 + 19 2285 c.1925G>A c.(1924-1926)CGG>CAG p.R642Q MYO3A_uc009xko.1_Missense_Mutation_p.R642Q|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 642 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CTTTGCATTCGGGCAGATGAG 0.418 NA 66 40 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34420402 34420402 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:34420402C>G uc010qej.1 - 23 3538 c.3538G>C c.(3538-3540)GAG>CAG p.E1180Q PARD3_uc010qek.1_Missense_Mutation_p.E1177Q|PARD3_uc010qel.1_Missense_Mutation_p.E1143Q|PARD3_uc010qem.1_Missense_Mutation_p.E1164Q|PARD3_uc010qen.1_Missense_Mutation_p.E1134Q|PARD3_uc010qeo.1_Missense_Mutation_p.E1097Q|PARD3_uc010qep.1_Missense_Mutation_p.E1090Q|PARD3_uc010qeq.1_Missense_Mutation_p.E1068Q NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1180 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CAGGGTTGCTCAAAACTATAG 0.458 NA 4 47 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34420469 34420469 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:34420469C>G uc010qej.1 - 23 3471 c.3471G>C c.(3469-3471)CTG>CTC p.L1157L PARD3_uc010qek.1_Silent_p.L1154L|PARD3_uc010qel.1_Silent_p.L1120L|PARD3_uc010qem.1_Silent_p.L1141L|PARD3_uc010qen.1_Silent_p.L1111L|PARD3_uc010qeo.1_Silent_p.L1074L|PARD3_uc010qep.1_Silent_p.L1067L|PARD3_uc010qeq.1_Silent_p.L1045L NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1157 Potential. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) ATTCTTGCCTCAGACGCTGTA 0.433 NA 9 62 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37440991 37440991 + Missense_Mutation SNP C C T rs45515098 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:37440991C>T uc001iza.1 + 12 1580 c.1481C>T c.(1480-1482)CCG>CTG p.P494L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 550 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TTTATAGATCCGATGTTCCCA 0.294 NA 9 43 0 0 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344884 38344884 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:38344884G>A uc001izh.2 + 5 2007 c.1829G>A c.(1828-1830)TGT>TAT p.C610Y ZNF33A_uc001izg.2_Missense_Mutation_p.C611Y|ZNF33A_uc010qev.1_Missense_Mutation_p.C617Y|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 610 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CCCTATGAATGTAATGAATGT 0.363 NA 11 58 0 0 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43654256 43654256 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:43654256G>T uc001jan.2 + 3 1090 c.755G>T c.(754-756)CGC>CTC p.R252L CSGALNACT2_uc001jam.1_Missense_Mutation_p.R252L NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 252 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 ACCCTCTTCCGCCCTTTTGGA 0.393 NA 11 50 3.07e-06 5.41e-06 1 0 ANK3 288 broad.mit.edu 37 10 61815535 61815535 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:61815535C>G uc001jky.2 - 42 13138 c.12946G>C c.(12946-12948)GAA>CAA p.E4316Q ANK3_uc001jkw.2_Missense_Mutation_p.E940Q|ANK3_uc009xpa.2_Missense_Mutation_p.E940Q|ANK3_uc001jkx.2_Missense_Mutation_p.E984Q|ANK3_uc010qih.1_Missense_Mutation_p.E1807Q|ANK3_uc001jkz.3_Missense_Mutation_p.E1800Q|ANK3_uc001jkv.2_Missense_Mutation_p.E339Q NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 4316 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTAGTCTCTTCTATTATAAGC 0.438 NA 6 218 0 0 0 0 AGAP5 729092 broad.mit.edu 37 10 75457410 75457410 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:75457410C>T uc009xri.2 - 1 145 c.104G>A c.(103-105)GGA>GAA p.G35E AGAP5_uc001juu.3_5'UTR NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 35 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GTCCCCAGCTCCTGCCTCATA 0.582 NA 21 152 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88232004 88232004 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:88232004C>G uc001kdo.2 - 7 2433 c.1991G>C c.(1990-1992)GGC>GCC p.G664A WAPAL_uc009xsv.2_5'Flank|WAPAL_uc001kdn.2_Missense_Mutation_p.G701A|WAPAL_uc009xsw.2_Missense_Mutation_p.G658A NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 664 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 GCTCTTTAAGCCACTTAACAA 0.343 NA 4 41 0 0 0 0 ABLIM1 3983 broad.mit.edu 37 10 116444079 116444079 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:116444079C>A uc010qsh.1 - 1 336 c.34G>T c.(34-36)GAC>TAC p.D12Y ABLIM1_uc010qsi.1_Missense_Mutation_p.D12Y|ABLIM1_uc009xyp.2_Missense_Mutation_p.D6Y|ABLIM1_uc001lbz.1_Intron NM_001003408 NP_001003408 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform c Error:Variant_position_missing_in_O14639_after_alignment axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TGATGAGGGTCCGTGAGCTCA 0.468 NA 12 62 3.27e-08 6.09e-08 1 0 KCNK18 338567 broad.mit.edu 37 10 118969465 118969465 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:118969465T>C uc010qsr.1 + 3 810 c.810T>C c.(808-810)GAT>GAC p.D270D NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 270 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) GCAACCTGGATGAAGTTGGAC 0.527 NA 18 93 0 0 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119768713 119768713 + Silent SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:119768713A>T uc001ldj.1 - 5 1775 c.1335T>A c.(1333-1335)ACT>ACA p.T445T RAB11FIP2_uc009xyz.1_Silent_p.T465T NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 445 FIP-RBD. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) GATACCCTGCAGTGGCATCAA 0.458 NA 25 73 0 0 0 0 WDR11 55717 broad.mit.edu 37 10 122618278 122618278 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:122618278G>A uc010qtf.1 + 3 560 c.322G>A c.(322-324)GAG>AAG p.E108K WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 108 WD 1. integral to membrane 0 AGCTCAGTGTGAGATCCAAGA 0.458 NA 6 41 0 0 0 0 OR51G1 79324 broad.mit.edu 37 11 4945474 4945474 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:4945474G>T uc010qyr.1 - 1 96 c.96C>A c.(94-96)CCC>CCA p.P32P NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 32 Helical; Name=1; (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;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAAGCAGAAGGGAATAGAGA 0.468 NA 11 50 1.34e-11 2.59e-11 1 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653889 5653889 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:5653889G>T uc001mbf.2 + 8 1634 c.1390G>T c.(1390-1392)GAG>TAG p.E464* HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Nonsense_Mutation_p.E110*|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Nonsense_Mutation_p.E110*|TRIM34_uc001mbj.2_Nonsense_Mutation_p.E110* NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 464 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CTTCTGTAAGGAGGATAGGAA 0.493 NA 4 23 0.00024832 0.000421656 1 0 OR52E6 390078 broad.mit.edu 37 11 5862952 5862952 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:5862952T>A uc010qzq.1 - 1 176 c.176A>T c.(175-177)GAG>GTG p.E59V TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTACATGGGCTCATGGAGACT 0.463 NA 17 98 0 0 0 0 OR2D2 120776 broad.mit.edu 37 11 6913477 6913477 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:6913477C>A uc010rau.1 - 1 255 c.255G>T c.(253-255)CTG>CTT p.L85L NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTCTGGAAAGCAGGTGGACTA 0.468 NA 9 52 0.000274275 0.000464424 1 0 NLRP14 338323 broad.mit.edu 37 11 7064307 7064307 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:7064307G>A uc001mfb.1 + 4 1373 c.1050G>A c.(1048-1050)ATG>ATA p.M350I NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 350 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGTGGGCCATGAAAGTATTCA 0.428 NA 15 87 0 0 0 0 OR10A3 26496 broad.mit.edu 37 11 7960962 7960962 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:7960962C>T uc010rbi.1 - 1 106 c.106G>A c.(106-108)GTG>ATG p.V36M NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGGTCACCACATAAATAACT 0.458 NA 16 43 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17482165 17482165 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:17482165G>T uc001mnc.2 - 6 1007 c.881C>A c.(880-882)GCC>GAC p.A294D ABCC8_uc010rcy.1_Missense_Mutation_p.A293D NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 294 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTCCCGAAGGCATGGCTGAG 0.642 NA 14 73 3.46e-05 5.99e-05 1 0 IGSF22 283284 broad.mit.edu 37 11 18741305 18741305 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:18741305C>A uc009yht.2 - 7 844 c.654G>T c.(652-654)CTG>CTT p.L218L IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 218 Lys-rich. ovary(4)|large_intestine(2)|kidney(1) 7 GCTTCCTGAGCAGCCCCCGAA 0.517 NA 19 158 1.02e-10 1.94e-10 1 0 SLC6A5 9152 broad.mit.edu 37 11 20639323 20639323 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:20639323G>T uc001mqd.2 + 7 1426 c.1153G>T c.(1153-1155)GGG>TGG p.G385W SLC6A5_uc009yic.2_Missense_Mutation_p.G150W NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 385 Extracellular (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) GATTTCTGCAGGGATTGAATA 0.368 NA 10 89 0.000978159 0.00164478 1 0 FBXO3 26273 broad.mit.edu 37 11 33768856 33768856 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:33768856T>C uc001muz.2 - 10 1087 c.1059A>G c.(1057-1059)CCA>CCG p.P353P FBXO3_uc010rej.1_Silent_p.P40P|FBXO3_uc001muy.2_Silent_p.P240P|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.P353P|FBXO3_uc001mvb.1_Silent_p.P348P|FBXO3_uc010rek.1_RNA NM_012175 NP_036307 Q9UK99 FBX3_HUMAN F-box only protein 3 isoform 1 353 ApaG. proteolysis nucleus ubiquitin-protein ligase activity pancreas(1) 1 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) GGCTGATGATTGGAAATTCAC 0.343 NA 14 35 0 0 0 0 HARBI1 283254 broad.mit.edu 37 11 46637351 46637351 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:46637351C>G uc001ncy.2 - 2 685 c.437G>C c.(436-438)GGG>GCG p.G146A 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 1 146 cytoplasm|nucleus metal ion binding|nuclease activity 0 GTCAACCACCCCCATCACCCC 0.512 NA 46 195 0 0 0 0 OR4C15 81309 broad.mit.edu 37 11 55322242 55322242 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:55322242C>A uc010rig.1 + 1 460 c.460C>A c.(460-462)CTC>ATC p.L154I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CATGATGCAGCTCTTTGCTGA 0.478 NA HNSCC(20;0.049) 29 110 1.25e-16 2.5e-16 1 0 OR4C15 81309 broad.mit.edu 37 11 55322833 55322833 + Missense_Mutation SNP A A T rs112163324 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:55322833A>T uc010rig.1 + 1 1051 c.1051A>T c.(1051-1053)ATG>TTG p.M351L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAAACAGGCCATGAGGAGAAT 0.333 NA HNSCC(20;0.049) 9 55 0 0 0 0 OR8K3 219473 broad.mit.edu 37 11 56086330 56086330 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:56086330C>A uc010rjf.1 + 1 548 c.548C>A c.(547-549)CCT>CAT p.P183H NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GACAGTCTCCCTTTGTTACCT 0.328 NA 18 77 5.35e-07 9.63e-07 1 0 P2RX3 5024 broad.mit.edu 37 11 57118259 57118259 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:57118259C>T uc001nju.2 + 8 805 c.729C>T c.(727-729)ATC>ATT p.I243I NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 243 Extracellular (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 GCATTAAGATCGGCTGGGTGT 0.622 NA 4 26 0 0 0 0 OR4D11 219986 broad.mit.edu 37 11 59271774 59271774 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:59271774C>T uc001noa.1 + 1 726 c.726C>T c.(724-726)TCC>TCT p.S242S NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTGCACCTCCCACATCACTG 0.547 NA 28 160 0 0 0 0 MS4A5 64232 broad.mit.edu 37 11 60215208 60215208 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:60215208T>C uc001npo.2 + 5 665 c.579T>C c.(577-579)GAT>GAC p.D193D NM_023945 NP_076434 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 193 Cytoplasmic (Potential). integral to membrane receptor activity large_intestine(1)|ovary(1) 2 ACTCAGAGGATTGTGATTGTG 0.353 NA 16 88 0 0 0 0 SART1 9092 broad.mit.edu 37 11 65744017 65744017 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:65744017G>A uc001ogl.2 + 13 1816 c.1724G>A c.(1723-1725)CGC>CAC p.R575H NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 575 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 GCTGGCAATCGCGAGGAGCAG 0.687 NA 8 39 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454925 66454925 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:66454925T>C uc001ojd.2 - 34 6767 c.6695A>G c.(6694-6696)GAG>GGG p.E2232G SPTBN2_uc001ojc.1_Missense_Mutation_p.R93G NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2232 PH. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCCGAAGGCCTCCATCTCCTG 0.642 NA 3 93 0 0 0 0 UVRAG 7405 broad.mit.edu 37 11 75851885 75851885 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:75851885G>A uc001oxc.2 + 15 1769 c.1528G>A c.(1528-1530)GAG>AAG p.E510K UVRAG_uc010rrw.1_Missense_Mutation_p.E409K|UVRAG_uc001oxd.2_Missense_Mutation_p.E138K|UVRAG_uc010rrx.1_Missense_Mutation_p.E138K|UVRAG_uc010rry.1_Missense_Mutation_p.E66K NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 510 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 GGCCAGCTCTGAGAATGAGAG 0.527 NA 7 104 0 0 0 0 AQP11 282679 broad.mit.edu 37 11 77301379 77301379 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:77301379C>A uc001oyj.2 + 1 700 c.342C>A c.(340-342)CCC>CCA p.P114P AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 114 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GCATGTCCCCCGAGACGGGTG 0.607 NA 15 83 1.45e-14 2.89e-14 1 0 DLG2 1740 broad.mit.edu 37 11 83673932 83673932 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:83673932T>G uc001paj.2 - 9 1324 c.1021A>C c.(1021-1023)ACC>CCC p.T341P DLG2_uc001pai.2_Missense_Mutation_p.T290P|DLG2_uc010rsy.1_Missense_Mutation_p.T308P|DLG2_uc010rsz.1_Missense_Mutation_p.T341P|DLG2_uc010rta.1_Missense_Mutation_p.T341P|DLG2_uc001pak.2_Missense_Mutation_p.T446P|DLG2_uc010rtb.1_Missense_Mutation_p.T308P|DLG2_uc001pal.1_Missense_Mutation_p.T341P|DLG2_uc001pam.1_Missense_Mutation_p.T380P NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 341 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTGACCTGGTGTAGTCGTCG 0.418 NA 4 218 0 0 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924580 105924580 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:105924580T>G uc001pja.2 - 4 1476 c.836A>C c.(835-837)CAA>CCA p.Q279P KBTBD3_uc001pjb.2_Missense_Mutation_p.Q279P|KBTBD3_uc009yxm.2_Missense_Mutation_p.Q200P NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 275 ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ACCAGAACCTTGCACACACTT 0.378 NA 4 54 0 0 0 0 HSPA8 3312 broad.mit.edu 37 11 122930370 122930370 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:122930370G>A uc001pyo.2 - 5 1009 c.931C>T c.(931-933)CGT>TGT p.R311C HSPA8_uc009zbc.2_Missense_Mutation_p.R75C|HSPA8_uc001pyp.2_Missense_Mutation_p.R311C|HSPA8_uc010rzu.1_Missense_Mutation_p.R234C|HSPA8_uc009zbd.1_Missense_Mutation_p.R311C NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 311 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGGGTGCCACGGAACAGGTCA 0.488 NA 17 39 0 0 0 0 OR8B2 26595 broad.mit.edu 37 11 124252330 124252330 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:124252330G>A uc010sai.1 - 1 910 c.910C>T c.(910-912)CTG>TTG p.L304L NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATTTTAATCAGAGCTTTCCTC 0.338 NA 16 37 0 0 0 0 STT3A 3703 broad.mit.edu 37 11 125484217 125484217 + Splice_Site SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:125484217A>G uc001qcd.2 + 15 1782 c.1672_splice c.e15-2 p.A558_splice STT3A_uc001qce.2_Splice_Site_p.A558_splice|STT3A_uc010sbg.1_Splice_Site_p.A466_splice|STT3A_uc009zbn.2_Splice_Site_p.A280_splice NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTGTTTTTCCAGGCAATGGCG 0.453 NA 19 222 0 0 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130318901 130318901 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:130318901C>T uc010scd.1 + 1 33 c.33C>T c.(31-33)TTC>TTT p.F11F NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 11 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCCTGGCTTTCGCCGGGCGAA 0.711 NA 4 29 0 0 0 0 CLEC4E 26253 broad.mit.edu 37 12 8691819 8691819 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:8691819C>A uc001quo.1 - 3 379 c.214G>T c.(214-216)GGA>TGA p.G72* NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 72 Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) ATACCTGATCCATAATTGTAG 0.383 NA 16 108 2.23e-06 3.97e-06 1 0 KLRF1 51348 broad.mit.edu 37 12 9984956 9984956 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:9984956T>C uc010sgw.1 + 2 194 c.130T>C c.(130-132)TCT>CCT p.S44P KLRF1_uc009zgw.2_Missense_Mutation_p.S44P|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Missense_Mutation_p.S44P|KLRF1_uc009zha.2_RNA NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 44 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 ACTGGGAATATCTGGAACCGT 0.323 NA 9 28 0 0 0 0 ETV6 2120 broad.mit.edu 37 12 12022820 12022820 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:12022820G>T uc001qzz.2 + 5 1200 c.926G>T c.(925-927)CGG>CTG p.R309L ETV6_uc001raa.1_Missense_Mutation_p.R102L NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 309 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) CTCTCTCATCGGGAAGACCTG 0.577 NA 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 23 98 1.55e-16 3.11e-16 1 0 GRIN2B 2904 broad.mit.edu 37 12 14018815 14018815 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:14018815G>T uc001rbt.2 - 2 507 c.328C>A c.(328-330)CAG>AAG p.Q110K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 110 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCGAGGATCTGGGCGATGGCT 0.542 NA 23 86 5.26e-13 1.04e-12 1 0 C12orf40 283461 broad.mit.edu 37 12 40076630 40076630 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:40076630C>A uc001rmc.2 + 8 1071 c.904C>A c.(904-906)CAA>AAA p.Q302K C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 302 ovary(6) 6 TTTTGTTAGTCAAAATATGAT 0.323 NA 18 53 2e-07 3.64e-07 1 0 LMBR1L 55716 broad.mit.edu 37 12 49495950 49495950 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:49495950G>A uc001rth.3 - 11 1225 c.883C>T c.(883-885)CGG>TGG p.R295W LMBR1L_uc001rtg.3_Missense_Mutation_p.R290W|LMBR1L_uc001rti.3_Missense_Mutation_p.R295W|LMBR1L_uc001rtj.1_Missense_Mutation_p.R139W|LMBR1L_uc009zld.1_Missense_Mutation_p.R168W NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 295 Cytoplasmic (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 CCCAGGTTCCGTTGCCAGGCT 0.597 NA 11 63 0 0 0 0 DGKA 1606 broad.mit.edu 37 12 56332340 56332340 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:56332340G>C uc001sij.2 + 6 659 c.395G>C c.(394-396)AGC>ACC p.S132T DGKA_uc009zoc.1_Missense_Mutation_p.S132T|DGKA_uc001sih.1_Intron|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Missense_Mutation_p.S51T|DGKA_uc009zoe.1_Missense_Mutation_p.S132T|DGKA_uc001sik.2_Missense_Mutation_p.S132T|DGKA_uc001sil.2_Missense_Mutation_p.S132T|DGKA_uc001sim.2_Missense_Mutation_p.S132T|DGKA_uc001sin.2_Missense_Mutation_p.S132T|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 132 1 (Probable).|EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) ATCCTGGACAGCTCAGTGAGT 0.507 NA 29 122 0 0 0 0 OS9 10956 broad.mit.edu 37 12 58090152 58090152 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:58090152T>G uc001spj.2 + 5 634 c.575T>G c.(574-576)GTT>GGT p.V192G OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.V192G|OS9_uc001spl.2_Missense_Mutation_p.V192G|OS9_uc001spm.2_Missense_Mutation_p.V192G|OS9_uc001spn.2_Missense_Mutation_p.V192G|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Missense_Mutation_p.V133G NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 192 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GAGGCCGAGGTTCGGGTGAGT 0.592 NA 12 52 0 0 0 0 EEA1 8411 broad.mit.edu 37 12 93196189 93196189 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:93196189T>C uc001tck.2 - 19 2926 c.2661A>G c.(2659-2661)ATA>ATG p.I887M NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 887 Potential. 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 CCAAGTCTAATATAGCGGCTT 0.289 NA 4 37 0 0 0 0 EEA1 8411 broad.mit.edu 37 12 93219970 93219970 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:93219970C>A uc001tck.2 - 13 1761 c.1496G>T c.(1495-1497)AGC>ATC p.S499I NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 499 Gln/Glu/Lys-rich.|Potential. 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 TGCCGTGGTGCTTTGCTGAAG 0.328 NA 5 27 0.00116845 0.00195658 1 0 NR1H4 9971 broad.mit.edu 37 12 100955661 100955661 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:100955661A>T uc001tht.1 + 8 1137 c.1109_splice c.e8-2 p.G370_splice NR1H4_uc001thp.1_Splice_Site_p.G356_splice|NR1H4_uc001thq.1_Splice_Site_p.G360_splice|NR1H4_uc010svj.1_Splice_Site|NR1H4_uc001thr.1_Splice_Site_p.G360_splice|NR1H4_uc010svk.1_Splice_Site_p.G309_splice|NR1H4_uc001ths.1_Splice_Site_p.G366_splice NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TTTCCCCCACAGGTATCTCTG 0.318 NA 11 17 0 0 0 0 WSCD2 9671 broad.mit.edu 37 12 108589738 108589738 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:108589738C>T uc001tms.2 + 2 873 c.129C>T c.(127-129)CCC>CCT p.P43P WSCD2_uc001tmt.2_Silent_p.P43P NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 43 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 TGGGCCAGCCCGCTGTCTCGG 0.612 NA 30 135 0 0 0 0 C12orf34 84915 broad.mit.edu 37 12 110205834 110205834 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:110205834G>T uc001tpd.1 + 3 659 c.100G>T c.(100-102)GCC>TCC p.A34S MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A34S NM_032829 NP_116218 Q5U5X8 CL034_HUMAN hypothetical protein LOC84915 34 ovary(1) 1 GGTGGCCAGCGCCATGCATTC 0.652 NA 7 52 0.00307968 0.00507958 1 0 ATP2A2 488 broad.mit.edu 37 12 110784230 110784230 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:110784230G>T uc001tqk.3 + 20 3647 c.3084G>T c.(3082-3084)TGG>TGT p.W1028C ATP2A2_uc001tql.3_Intron|ATP2A2_uc010sxy.1_Missense_Mutation_p.W1001C|ATP2A2_uc001tqn.3_Missense_Mutation_p.W105C|ATP2A2_uc009zvn.2_Intron NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 1028 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 TGGTGATCTGGGTCTATAGCA 0.433 NA 6 31 0.00198382 0.00329456 1 0 RILPL1 353116 broad.mit.edu 37 12 124008157 124008157 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:124008157C>T uc001ufe.2 - 2 581 c.345G>A c.(343-345)GAG>GAA p.E115E RILPL1_uc010tas.1_Silent_p.E115E NM_178314 NP_847884 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 115 Potential. neuroprotection cytosol 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) GGTCCTGCGCCTCCCCTCGCC 0.627 NA 10 31 0 0 0 0 SFRS8 6433 broad.mit.edu 37 12 132281832 132281832 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:132281832C>G uc001uja.1 + 16 2784 c.2644C>G c.(2644-2646)CCC>GCC p.P882A SFRS8_uc010tbn.1_Missense_Mutation_p.P934A NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 882 Arg/Ser-rich (RS domain). 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) gcccgcggcccccgcggcccA 0.557 NA 15 60 0 0 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748110 19748110 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:19748110C>A uc009zzj.2 - 5 1295 c.1246G>T c.(1246-1248)GGG>TGG p.G416W NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 416 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAGAACTCCCCCTCCTCCATG 0.602 NA 31 113 3.87e-22 7.82e-22 1 0 ATP8A2 51761 broad.mit.edu 37 13 26154054 26154054 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:26154054G>T uc001uqk.2 + 22 2118 c.1976G>T c.(1975-1977)CGG>CTG p.R659L ATP8A2_uc010tdi.1_Missense_Mutation_p.R619L|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R169L NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 619 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGAGCTCAACGGTTGGAAGAG 0.438 NA 13 28 2.62e-11 5.05e-11 1 0 FLT3 2322 broad.mit.edu 37 13 28589793 28589793 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:28589793C>A uc001urw.2 - 21 2669 c.2587G>T c.(2587-2589)GGC>TGC p.G863C FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.G822C NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 863 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GTGTAGATGCCTTCAAACAGG 0.483 NA Mis|O AML|ALL 18 50 1.02e-10 1.94e-10 1 0 FREM2 341640 broad.mit.edu 37 13 39425083 39425083 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:39425083G>C uc001uwv.2 + 10 6889 c.6580G>C c.(6580-6582)GAG>CAG p.E2194Q FREM2_uc001uww.2_Missense_Mutation_p.E280Q NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2194 Extracellular (Potential).|Calx-beta 4. 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) TGTTCCAGGTGAGACAGAAAA 0.378 NA 11 49 0 0 0 0 LHFP 10186 broad.mit.edu 37 13 39952599 39952599 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:39952599C>G uc001uxf.2 - 3 961 c.450G>C c.(448-450)CAG>CAC p.Q150H NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 150 integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) AGCCACAAGTCTGCCGGACTT 0.493 NA T HMGA2 lipoma 16 51 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101747987 101747987 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:101747987C>G uc001vox.1 - 28 3396 c.3207G>C c.(3205-3207)AAG>AAC p.K1069N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1069 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATTTAAGTTCTTTGACACAC 0.358 NA 9 47 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20849805 20849805 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:20849805G>A uc001vxe.2 - 31 4505 c.4465C>T c.(4465-4467)CTG>TTG p.L1489L TEP1_uc010ahk.2_Silent_p.L832L|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Silent_p.L1381L|TEP1_uc010tlh.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1489 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGGAGGCACAGCCGGGCACCA 0.602 NA 17 92 0 0 0 0 OR4E2 26686 broad.mit.edu 37 14 22133982 22133982 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:22133982C>G uc010tmd.1 + 1 686 c.686C>G c.(685-687)TCA>TGA p.S229* NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CGAAAACACTCAGCTGAAGGG 0.517 NA 11 64 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30066700 30066700 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:30066700C>G uc001wqh.2 - 16 2612 c.2431G>C c.(2431-2433)GAA>CAA p.E811Q NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 811 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ATATTACCTTCATGAGATATT 0.274 NA 12 66 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 33684490 33684490 + Silent SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:33684490T>A uc001wru.2 + 3 307 c.243T>A c.(241-243)CCT>CCA p.P81P NPAS3_uc001wrs.2_Silent_p.P51P|NPAS3_uc001wrt.2_Silent_p.P51P|NPAS3_uc001wrv.2_Silent_p.P51P|NPAS3_uc001wrw.2_5'UTR NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 81 Helix-loop-helix motif. PLP -> LS (in Ref. 4; CAB45154). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGCCTCTTCCTGCAGCCATTA 0.493 NA 17 103 0 0 0 0 MIPOL1 145282 broad.mit.edu 37 14 37754564 37754564 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:37754564G>T uc001wuc.2 + 8 1038 c.535G>T c.(535-537)GAA>TAA p.E179* MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Nonsense_Mutation_p.E148*|MIPOL1_uc001wud.2_Nonsense_Mutation_p.E179*|MIPOL1_uc010ams.2_Nonsense_Mutation_p.E179*|MIPOL1_uc001wue.2_Nonsense_Mutation_p.E148*|MIPOL1_uc010amt.2_5'UTR NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 179 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) GGAACGTGATGAAGCTGTTAT 0.378 NA 14 79 1.03e-11 1.99e-11 1 0 SSTR1 6751 broad.mit.edu 37 14 38679680 38679680 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:38679680C>A uc001wul.1 + 3 1703 c.1086C>A c.(1084-1086)GCC>GCA p.A362A SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 362 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) AGAGCCGTGCCTACAGTGTGG 0.612 NA 18 75 3.52e-12 6.88e-12 1 0 LRFN5 145581 broad.mit.edu 37 14 42356976 42356976 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:42356976G>T uc001wvm.2 + 3 2346 c.1148G>T c.(1147-1149)AGT>ATT p.S383I LRFN5_uc010ana.2_Missense_Mutation_p.S383I NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 383 Extracellular (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) TTACTAAATAGTACAAACCAT 0.393 NA HNSCC(30;0.082) 10 56 1.59e-06 2.84e-06 1 0 FSCB 84075 broad.mit.edu 37 14 44975712 44975712 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:44975712C>A uc001wvn.2 - 1 788 c.479G>T c.(478-480)AGT>ATT p.S160I NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 160 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTCTGATTCACTAAAGTATGT 0.418 NA 29 157 1.14e-10 2.16e-10 1 0 FSCB 84075 broad.mit.edu 37 14 44975773 44975773 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:44975773A>T uc001wvn.2 - 1 727 c.418T>A c.(418-420)TGG>AGG p.W140R NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 140 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) ATCATGGTCCAGTATCCTGTA 0.423 NA 39 164 0 0 0 0 FKBP3 2287 broad.mit.edu 37 14 45590112 45590112 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:45590112C>G uc010tqf.1 - 5 573 c.500G>C c.(499-501)GGA>GCA p.G167A NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 167 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 TTTGCCTACTCCGACCTTAAA 0.333 NA 3 61 0 0 0 0 FRMD6 122786 broad.mit.edu 37 14 52194577 52194577 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:52194577C>G uc001wzd.2 + 14 1984 c.1699C>G c.(1699-1701)CAG>GAG p.Q567E FRMD6_uc001wzb.2_Missense_Mutation_p.Q559E|FRMD6_uc001wzc.2_Missense_Mutation_p.Q559E|FRMD6_uc001wze.2_Missense_Mutation_p.Q490E|FRMD6_uc001wzf.2_Missense_Mutation_p.Q260E|FRMD6_uc001wzg.2_Missense_Mutation_p.Q209E NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 567 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGACACTGCTCAGAGTTACAC 0.502 NA 11 45 0 0 0 0 ABCD4 5826 broad.mit.edu 37 14 74761852 74761852 + Nonsense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:74761852T>A uc001xpr.2 - 7 870 c.718A>T c.(718-720)AGA>TGA p.R240* ABCD4_uc001xps.2_Nonsense_Mutation_p.R81*|ABCD4_uc001xpt.2_Nonsense_Mutation_p.R81*|ABCD4_uc010tur.1_Intron|ABCD4_uc001xpu.2_Silent_p.T8T|ABCD4_uc001xpv.2_RNA NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 240 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) CAGACTCACCTGTAGAAAGCA 0.562 NA 17 54 0 0 0 0 TMEM90A 646658 broad.mit.edu 37 14 74874270 74874270 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:74874270C>T uc001xpx.2 - 4 933 c.685G>A c.(685-687)GCA>ACA p.A229T NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 229 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) ATGTAAGCTGCCAGAGCCACC 0.652 NA 17 68 0 0 0 0 KCNK10 54207 broad.mit.edu 37 14 88707107 88707107 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:88707107T>A uc001xwo.2 - 3 902 c.445A>T c.(445-447)AGC>TGC p.S149C KCNK10_uc001xwm.2_Missense_Mutation_p.S154C|KCNK10_uc001xwn.2_Missense_Mutation_p.S154C NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 149 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 CAGTGGCTGCTGTTGTTGGAA 0.458 NA 27 105 0 0 0 0 SPATA7 55812 broad.mit.edu 37 14 88904701 88904701 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:88904701G>C uc001xwq.2 + 12 1886 c.1735G>C c.(1735-1737)GAC>CAC p.D579H SPATA7_uc001xwr.2_Missense_Mutation_p.D547H|SPATA7_uc001xws.2_Missense_Mutation_p.D515H|SPATA7_uc001xwt.2_Missense_Mutation_p.D473H|SPATA7_uc001xwu.2_Missense_Mutation_p.D94H NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 579 response to stimulus|visual perception ovary(1) 1 CAATAATCATGACATGGAGTT 0.383 NA 7 28 0 0 0 0 TTC8 123016 broad.mit.edu 37 14 89305909 89305909 + Silent SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:89305909A>G uc010ath.2 + 2 362 c.228A>G c.(226-228)CAA>CAG p.Q76Q TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Silent_p.Q76Q|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Silent_p.Q86Q|TTC8_uc001xxj.2_Silent_p.Q76Q|TTC8_uc001xxk.2_Silent_p.Q76Q NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 86 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 CTATAGCTCAAGTTCCACGTA 0.328 NA Bardet-Biedl_syndrome 6 45 0 0 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780146 91780146 + Nonsense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:91780146G>A uc010aty.2 - 15 2113 c.2014C>T c.(2014-2016)CAG>TAG p.Q672* NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 672 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) TTCTCCAGCTGCAGGCCCTGG 0.627 NA 6 15 0 0 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022574 97022574 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:97022574C>T uc001yfq.2 + 19 2038 c.1828C>T c.(1828-1830)CCT>TCT p.P610S PAPOLA_uc001yfr.2_Missense_Mutation_p.P609S|PAPOLA_uc010twv.1_Missense_Mutation_p.P610S|PAPOLA_uc010avp.2_Missense_Mutation_p.P360S NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 610 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ACCACCAAAGCCTACGGTCTC 0.418 NA 22 86 0 0 0 0 DIO3 1735 broad.mit.edu 37 14 102028010 102028010 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:102028010C>G uc010txq.1 + 1 323 c.99C>G c.(97-99)CTC>CTG p.L33L DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 33 Helical; Signal-anchor for type II membrane protein; (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) CCTTCATGCTCTGGCTTCTCG 0.657 NA 10 77 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890179 23890179 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:23890179G>A uc001ywj.3 - 1 997 c.902C>T c.(901-903)GCC>GTC p.A301V NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GTCATGAAAGGCTAGCGTGTG 0.627 NA 18 46 0 0 0 0 TTBK2 146057 broad.mit.edu 37 15 43067454 43067454 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:43067454G>A uc001zqo.2 - 13 2316 c.1877C>T c.(1876-1878)CCT>CTT p.P626L TTBK2_uc010bcy.2_Missense_Mutation_p.P557L NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 626 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) AGCAGCAGTAGGAGGACCCTC 0.488 NA 63 67 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50786338 50786338 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:50786338G>A uc001zym.3 + 17 3019 c.2519G>A c.(2518-2520)GGA>GAA p.G840E USP8_uc001zyl.3_Missense_Mutation_p.G840E|USP8_uc001zyn.3_Missense_Mutation_p.G840E|USP8_uc010ufh.1_Missense_Mutation_p.G734E|uc001zyo.1_RNA|USP8_uc001zyp.3_Missense_Mutation_p.G7E NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 840 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTGTGGACAGGACAGTATAGA 0.383 NA 19 87 0 0 0 0 NOX5 79400 broad.mit.edu 37 15 69335123 69335123 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:69335123G>C uc002ars.1 + 10 1645 c.1625G>C c.(1624-1626)AGA>ACA p.R542T NOX5_uc002arp.1_Missense_Mutation_p.R524T|NOX5_uc002arq.1_Missense_Mutation_p.R496T|NOX5_uc010bid.1_Missense_Mutation_p.R507T|NOX5_uc002arr.1_Missense_Mutation_p.R514T|NOX5_uc010bie.1_Missense_Mutation_p.R342T|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 542 FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GTGACAATGAGAAAGAGTCAA 0.552 NA 19 17 0 0 0 0 LINGO1 84894 broad.mit.edu 37 15 77906424 77906424 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:77906424C>A uc002bct.1 - 2 1877 c.1825G>T c.(1825-1827)GCC>TCC p.A609S LINGO1_uc002bcu.1_Missense_Mutation_p.A603S NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 609 Cytoplasmic (Potential). negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GGCGCGTCGGCGGAGCTGATG 0.493 NA 10 15 2.18e-05 3.78e-05 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100672232 100672232 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:100672232C>G uc002bvv.1 - 12 1780 c.1701G>C c.(1699-1701)CAG>CAC p.Q567H ADAMTS17_uc002bvx.1_Missense_Mutation_p.Q324H NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 567 TSP type-1 1. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CACATTTCCTCTGCCTGAAGC 0.627 NA OREG0023513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 79 0 0 0 0 RPL3L 6123 broad.mit.edu 37 16 1996719 1996719 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:1996719G>C uc002cnh.2 - 7 905 c.858C>G c.(856-858)CGC>CGG p.R286R NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 286 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 CCCTGCCGATGCGGAAGATCT 0.632 NA 8 28 0 0 0 0 CLEC16A 23274 broad.mit.edu 37 16 11071128 11071128 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:11071128G>C uc002dao.2 + 8 1005 c.775G>C c.(775-777)GAC>CAC p.D259H CLEC16A_uc002dan.3_Missense_Mutation_p.D257H NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 259 ovary(1)|central_nervous_system(1) 2 AGAGCACCTAGACCACCTGCA 0.537 NA 11 69 0 0 0 0 ITGAL 3683 broad.mit.edu 37 16 30518132 30518132 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:30518132G>C uc002dyi.3 + 21 2639 c.2463G>C c.(2461-2463)CTG>CTC p.L821L ITGAL_uc002dyj.3_Silent_p.L737L|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 821 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) AGCTGGACCTGCACTTCCCCC 0.602 NA 33 180 0 0 0 0 ZNF668 79759 broad.mit.edu 37 16 31073227 31073227 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:31073227C>T uc010caf.2 - 3 1379 c.1022G>A c.(1021-1023)TGT>TAT p.C341Y ZNF668_uc002eao.2_Missense_Mutation_p.C341Y NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 341 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 CGTCTTGTCACATTGCAGGCA 0.677 NA 13 59 0 0 0 0 C16orf58 64755 broad.mit.edu 37 16 31502206 31502206 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:31502206C>T uc002eci.1 - 13 1369 c.1357G>A c.(1357-1359)GGT>AGT p.G453S C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.D191N NM_022744 NP_073581 Q96GQ5 CP058_HUMAN hypothetical protein LOC64755 453 D -> G (in Ref. 1; BAB14730). integral to membrane ovary(1)|breast(1) 2 CTCCACTCATCCACCTCTAGC 0.612 NA 20 71 0 0 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58198043 58198043 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:58198043C>A uc002enc.2 - 11 1127 c.985G>T c.(985-987)GTG>TTG p.V329L NM_001896 NP_001887 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 329 axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TGCTCCTTCACCACAGGGTCT 0.547 NA 13 58 1.62e-10 3.06e-10 1 0 CALB2 794 broad.mit.edu 37 16 71406097 71406097 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:71406097C>T uc002faa.3 + 2 206 c.136C>T c.(136-138)CAA>TAA p.Q46* CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Nonsense_Mutation_p.Q46* NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 46 EF-hand 1. calcium ion binding 0 Ovarian(137;0.125) AAACTTTTTCCAAGAGCTGGA 0.458 NA 13 58 0 0 0 0 USP10 9100 broad.mit.edu 37 16 84808830 84808830 + Silent SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:84808830A>T uc002fii.2 + 13 2350 c.2208A>T c.(2206-2208)GCA>GCT p.A736A USP10_uc010voe.1_Silent_p.A740A|USP10_uc010vof.1_Silent_p.A298A|USP10_uc002fij.2_Silent_p.A262A NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 736 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 GGCTCTTTGCAGGTGAGTAAA 0.403 NA 19 58 0 0 0 0 USP6 9098 broad.mit.edu 37 17 5036229 5036229 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:5036229A>G uc002gau.1 + 13 2450 c.220A>G c.(220-222)ACG>GCG p.T74A USP6_uc002gav.1_Missense_Mutation_p.T74A|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.T135A|uc002gay.1_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 74 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 GATGACACGAACGAGCAAGTG 0.532 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 3 153 0 0 0 0 BCL6B 255877 broad.mit.edu 37 17 6930932 6930932 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:6930932G>T uc002geg.2 + 9 1491 c.1434G>T c.(1432-1434)GGG>GGT p.G478G BCL6B_uc010clt.1_Silent_p.G479G NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 478 nucleus zinc ion binding skin(1) 1 TTCTCGGGGGGCCCTAGCTGA 0.622 NA 11 48 1.62e-10 3.06e-10 1 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> 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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 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) 13 36 0 0 0 0 NTN1 9423 broad.mit.edu 37 17 9143248 9143248 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:9143248A>G uc002glw.3 + 7 1885 c.1778A>G c.(1777-1779)CAG>CGG p.Q593R NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 593 NTR. apoptosis|axon guidance protein binding 0 CGCAAGTTCCAGCAGCGTGAG 0.607 NA 3 13 0 0 0 0 MYH13 8735 broad.mit.edu 37 17 10213055 10213055 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:10213055C>A uc002gmk.1 - 34 4839 c.4749G>T c.(4747-4749)AAG>AAT p.K1583N NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1583 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TTTCTTCATCCTTCTCAATGA 0.562 NA 3 7 6.4e-05 0.00011009 1 0 NOS2 4843 broad.mit.edu 37 17 26107912 26107912 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:26107912C>T uc002gzu.2 - 9 1149 c.885G>A c.(883-885)TGG>TGA p.W295* NOS2_uc010crh.1_Nonsense_Mutation_p.W295*|NOS2_uc010wab.1_Nonsense_Mutation_p.W295* NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 295 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ACTTGGGCTTCCAGCCCAGGT 0.627 NA 11 39 0 0 0 0 LRRC46 90506 broad.mit.edu 37 17 45914142 45914142 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:45914142C>A uc002ima.2 + 8 878 c.622C>A c.(622-624)CTG>ATG p.L208M LRRC46_uc002imb.2_Missense_Mutation_p.L161M NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 208 Potential. ovary(1) 1 GGAGCAGGAGCTGAGCAGGCA 0.687 NA 5 41 0.00116845 0.00195658 1 0 NFE2L1 4779 broad.mit.edu 37 17 46135825 46135825 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:46135825G>T uc002imz.3 + 6 1792 c.1141G>T c.(1141-1143)GAG>TAG p.E381* NFE2L1_uc002ina.3_Nonsense_Mutation_p.E351*|NFE2L1_uc002inb.3_Nonsense_Mutation_p.E351*|NFE2L1_uc010wle.1_Nonsense_Mutation_p.E193*|NFE2L1_uc010wlf.1_Nonsense_Mutation_p.E225* NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 381 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 CTTCAGCCCCGAGGTGGAAAG 0.607 NA 32 85 9.78e-22 1.97e-21 1 0 TTLL6 284076 broad.mit.edu 37 17 46867429 46867429 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:46867429C>T uc010wlo.1 - 11 1299 c.1264G>A c.(1264-1266)GAT>AAT p.D422N TTLL6_uc002iob.2_Missense_Mutation_p.D115N|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.D175N|TTLL6_uc002iod.2_Missense_Mutation_p.D269N NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 374 TTL. cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 ACCTCTTTATCCAACCGAGAG 0.512 NA 19 68 0 0 0 0 C17orf47 284083 broad.mit.edu 37 17 56620420 56620420 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:56620420G>C uc002iwq.1 - 1 1264 c.1128C>G c.(1126-1128)ACC>ACG p.T376T SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 376 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGGTTTTTGGGTTTGCTGTT 0.493 NA 13 61 0 0 0 0 ERN1 2081 broad.mit.edu 37 17 62122729 62122729 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:62122729G>A uc002jdz.2 - 20 2756 c.2643C>T c.(2641-2643)CCC>CCT p.P881P NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 881 Cytoplasmic (Potential).|KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 CTGTCTGGAGGGGGACAGTGA 0.562 NA 6 37 0 0 0 0 CCDC46 201134 broad.mit.edu 37 17 64059084 64059084 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:64059084T>A uc002jfl.2 - 11 1290 c.1071A>T c.(1069-1071)AAA>AAT p.K357N CCDC46_uc010deo.2_Missense_Mutation_p.K99N|CCDC46_uc002jfm.2_Missense_Mutation_p.K357N|CCDC46_uc010dep.2_Missense_Mutation_p.K315N NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 357 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) AGCTTACCTTTTTTTCCCAGT 0.299 NA 7 35 0 0 0 0 GPR142 350383 broad.mit.edu 37 17 72368159 72368159 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:72368159C>T uc010wqy.1 + 4 809 c.809C>T c.(808-810)TCG>TTG p.S270L GPR142_uc010wqx.1_Missense_Mutation_p.S182L NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 270 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CGGGCCGCCTCGTCCCCAGGC 0.657 NA 5 24 0 0 0 0 GPRC5C 55890 broad.mit.edu 37 17 72443133 72443133 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:72443133C>G uc002jks.2 + 3 1331 c.1292C>G c.(1291-1293)TCT>TGT p.S431C GPRC5C_uc002jkp.2_Missense_Mutation_p.S476C|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.S443C|GPRC5C_uc002jkt.2_Missense_Mutation_p.S431C|GPRC5C_uc002jku.2_Missense_Mutation_p.S186C NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 431 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GGCAAGAACTCTCAGGTCTTT 0.652 NA 16 91 0 0 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498200 73498200 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:73498200C>A uc002joc.2 - 18 3505 c.2955G>T c.(2953-2955)ACG>ACT p.T985T CASKIN2_uc010wsc.1_Silent_p.T903T NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 985 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGTCTGATTCCGTGAGGTTGA 0.667 NA 17 71 4.97e-08 9.2e-08 1 0 EPB41L3 23136 broad.mit.edu 37 18 5397146 5397146 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:5397146C>G uc002kmt.1 - 18 2838 c.2752G>C c.(2752-2754)GAG>CAG p.E918Q EPB41L3_uc010wzh.1_Missense_Mutation_p.E749Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.E696Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.E587Q|EPB41L3_uc002kms.1_Missense_Mutation_p.E153Q|EPB41L3_uc010wze.1_Missense_Mutation_p.E223Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.E215Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.E190Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.E310Q NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 918 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GCGGCTGTCTCTTCCTGTTCC 0.522 NA 6 136 0 0 0 0 C18orf45 85019 broad.mit.edu 37 18 20979546 20979546 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:20979546C>G uc002kuf.2 - 4 372 c.263G>C c.(262-264)AGA>ACA p.R88T C18orf45_uc010xaq.1_Intron|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA NM_032933 NP_116322 Q24JQ0 CR045_HUMAN hypothetical protein LOC85019 88 integral to membrane 0 all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127) GGACAATGCTCTGGACCCAGC 0.443 NA 8 69 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22806305 22806305 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:22806305G>C uc002kvk.2 - 4 1824 c.1577C>G c.(1576-1578)TCT>TGT p.S526C ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S526C|ZNF521_uc002kvl.2_Missense_Mutation_p.S306C NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 526 C2H2-type 12. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTCCAGGGAAGAGTCAGTGAG 0.468 NA T PAX5 ALL 7 70 0 0 0 0 MOCOS 55034 broad.mit.edu 37 18 33828964 33828964 + Splice_Site SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:33828964G>T uc002kzq.3 + 10 2062 c.2039_splice c.e10+1 p.R680_splice NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) GTGCTGACAGGTGAGACTCTG 0.413 NA 7 21 8.13e-05 0.000138603 1 0 FAM69C 125704 broad.mit.edu 37 18 72103843 72103843 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:72103843G>C uc002llk.2 - 4 1162 c.1153C>G c.(1153-1155)CCT>GCT p.P385A NM_001044369 NP_001037834 Q0P6D2 FA69C_HUMAN hypothetical protein LOC125704 385 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 GGGACCCCAGGGTCTGCACAT 0.587 NA 6 21 0 0 0 0 POLRMT 5442 broad.mit.edu 37 19 619032 619032 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:619032C>T uc002lpf.1 - 15 3288 c.3232G>A c.(3232-3234)GTC>ATC p.V1078I NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1078 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GGCTGGATGACGGGGACGCCC 0.632 NA 4 19 0 0 0 0 ABCA7 10347 broad.mit.edu 37 19 1043352 1043352 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:1043352G>C uc002lqw.3 + 9 1041 c.810G>C c.(808-810)CTG>CTC p.L270L ABCA7_uc010dsb.1_Silent_p.L132L NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 270 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity p.L270L(1) pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GCTCGGAGCTGATTGGAGCCC 0.627 NA 12 79 0 0 0 0 FZR1 51343 broad.mit.edu 37 19 3527705 3527705 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:3527705G>A uc010dtk.2 + 6 581 c.547G>A c.(547-549)GAG>AAG p.E183K FZR1_uc002lxt.2_Missense_Mutation_p.E183K|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 183 WD 1. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGACGCGCCCGAGCTGCAGGA 0.632 NA 6 42 0 0 0 0 SEMA6B 10501 broad.mit.edu 37 19 4548323 4548323 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:4548323G>C uc010duc.1 - 12 1444 c.1406C>G c.(1405-1407)TCT>TGT p.S469C SEMA6B_uc010dud.2_Missense_Mutation_p.S469C|SEMA6B_uc010xih.1_Missense_Mutation_p.S469C NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 469 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGAGCCCAGACGTCCCTGA 0.647 NA 8 61 0 0 0 0 FEM1A 55527 broad.mit.edu 37 19 4792971 4792971 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:4792971G>A uc002mbf.2 + 1 1244 c.1105G>A c.(1105-1107)GAG>AAG p.E369K uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 369 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CGACCCGGATGAGATGCGCAT 0.632 NA 16 61 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9056573 9056573 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:9056573G>A uc002mkp.2 - 3 31077 c.30873C>T c.(30871-30873)ACC>ACT p.T10291T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10293 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAACTCCAGTGGTGGCAAATG 0.517 NA 10 92 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9068476 9068476 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:9068476C>T uc002mkp.2 - 3 19174 c.18970G>A c.(18970-18972)GAC>AAC p.D6324N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6326 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTATATGGGTCTGAGTCAGGT 0.443 NA 9 79 0 0 0 0 ZNF136 7695 broad.mit.edu 37 19 12297490 12297490 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:12297490G>A uc002mti.2 + 4 397 c.297G>A c.(295-297)GTG>GTA p.V99V ZNF136_uc010xmh.1_Silent_p.V33V NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 99 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 TCCCTGGAGTGAAACTCTGTG 0.398 NA 5 33 0 0 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:14262129A>C uc010xnn.1 - 24 4277 c.3981T>G c.(3979-3981)GGT>GGG p.G1327G LPHN1_uc010xno.1_Silent_p.G1322G|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 1327 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CCCGGTCAGCACCCCCGGGCC 0.716 NA 6 8 0 0 0 0 ZNF85 7639 broad.mit.edu 37 19 21132951 21132951 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:21132951G>A uc002npg.3 + 4 1758 c.1631G>A c.(1630-1632)GGC>GAC p.G544D ZNF85_uc010ecn.2_Missense_Mutation_p.G479D|ZNF85_uc010eco.2_Missense_Mutation_p.G492D|ZNF85_uc002npi.2_Missense_Mutation_p.G485D NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 544 C2H2-type 15. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 GAAGAATGTGGCAAAGCCTTT 0.348 NA 5 41 0 0 0 0 ZNF98 148198 broad.mit.edu 37 19 22575547 22575547 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:22575547G>A uc002nqt.2 - 4 612 c.490C>T c.(490-492)CAT>TAT p.H164Y NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GAAAATTTATGAAAGACTTTC 0.313 NA 3 7 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31039948 31039948 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:31039948C>G uc002nsu.1 + 4 3560 c.3422C>G c.(3421-3423)TCT>TGT p.S1141C ZNF536_uc010edd.1_Missense_Mutation_p.S1141C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AAGGCCCACTCTGAAGAGGAT 0.542 NA 6 38 0 0 0 0 CHST8 64377 broad.mit.edu 37 19 34263714 34263714 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:34263714G>A uc002nus.3 + 5 1526 c.1021G>A c.(1021-1023)GAC>AAC p.D341N CHST8_uc002nut.3_Missense_Mutation_p.D341N|CHST8_uc002nuu.2_Missense_Mutation_p.D341N NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 341 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CTGCCTCATCGACTACGATTT 0.607 NA 13 34 0 0 0 0 ZNF565 147929 broad.mit.edu 37 19 36673999 36673999 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:36673999C>T uc002odn.2 - 5 977 c.869G>A c.(868-870)CGT>CAT p.R290H ZNF565_uc010ees.2_Missense_Mutation_p.R225H|ZNF565_uc002odo.2_Missense_Mutation_p.R290H NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 290 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TTGGGAGCCACGAATGAAAGC 0.502 NA 14 81 0 0 0 0 ZNF345 25850 broad.mit.edu 37 19 37367985 37367985 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:37367985A>G uc002oex.2 + 3 631 c.253A>G c.(253-255)ACT>GCT p.T85A ZNF345_uc002oey.3_Missense_Mutation_p.T85A|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 85 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCGAATTCATACTGGTGAGAA 0.403 NA 6 38 0 0 0 0 ZNF45 7596 broad.mit.edu 37 19 44417888 44417888 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:44417888C>A uc002oxu.1 - 4 1799 c.1700G>T c.(1699-1701)CGG>CTG p.R567L ZNF45_uc002oxw.1_Missense_Mutation_p.R567L|ZNF45_uc002oxv.1_Missense_Mutation_p.R567L NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 567 C2H2-type 15. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ATTGGAGGCCCGACAGAAGCC 0.517 NA 17 85 3.41e-10 6.43e-10 1 0 MYADM 91663 broad.mit.edu 37 19 54377171 54377171 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:54377171C>A uc002qcl.2 + 3 536 c.388C>A c.(388-390)CAC>AAC p.H130N MYADM_uc002qcm.2_Missense_Mutation_p.H130N|MYADM_uc002qcn.2_Missense_Mutation_p.H130N|MYADM_uc002qco.2_Missense_Mutation_p.H130N|MYADM_uc002qcp.2_Missense_Mutation_p.H130N NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 130 MARVEL 1. integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GTTCCTGTCCCACGGCCGTTC 0.662 NA 20 98 7.45e-12 1.46e-11 1 0 LILRB5 10990 broad.mit.edu 37 19 54756392 54756392 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:54756392C>T uc002qex.2 - 10 1603 c.1492G>A c.(1492-1494)GGG>AGG p.G498R LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.G490R|LILRB5_uc002qey.2_Missense_Mutation_p.G499R|LILRB5_uc002qez.2_Missense_Mutation_p.G399R|LILRB5_uc002qfa.1_3'UTR NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 498 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCCGCAGCCCCTGCAGGACGG 0.607 NA 8 76 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55106219 55106219 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:55106219G>A uc002qgh.1 + 4 342 c.160G>A c.(160-162)GAG>AAG p.E54K LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.E54K NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 54 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) GGGGATCCTGGAGACCCAGGA 0.577 NA 19 91 0 0 0 0 LILRB1 10859 broad.mit.edu 37 19 55148286 55148286 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:55148286C>T uc002qgj.2 + 16 2250 c.1910C>T c.(1909-1911)TCT>TTT p.S637F LILRB1_uc002qgl.2_Missense_Mutation_p.S638F|LILRB1_uc002qgk.2_Missense_Mutation_p.S638F|LILRB1_uc002qgm.2_Missense_Mutation_p.S639F|LILRB1_uc010erq.2_Missense_Mutation_p.S621F|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 637 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) GAAGGGCCCTCTCCAGCTGTG 0.642 NA HNSCC(37;0.09) 17 47 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1664703 1664703 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:1664703G>C uc002qxa.2 - 14 1851 c.1787C>G c.(1786-1788)GCC>GGC p.A596G PXDN_uc002qxb.1_Missense_Mutation_p.A596G NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 596 Ig-like C2-type 4. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGTGTTCCGGGCCACACACTC 0.522 NA 5 57 0 0 0 0 ADCY3 109 broad.mit.edu 37 2 25050956 25050956 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:25050956C>T uc002rfs.3 - 13 2446 c.2247G>A c.(2245-2247)GAG>GAA p.E749E ADCY3_uc002rfr.3_Intron|ADCY3_uc010ykm.1_Silent_p.E749E NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 749 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ACTTGGGGTTCTCCAGGCAGC 0.607 NA OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 36 0 0 0 0 MAPRE3 22924 broad.mit.edu 37 2 27247054 27247054 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:27247054G>C uc002rhw.2 + 4 511 c.358G>C c.(358-360)GAT>CAT p.D120H MAPRE3_uc002rhx.2_Missense_Mutation_p.D120H NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, 120 cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCAAACTATGATGGAAAGGA 0.413 NA 7 34 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32667279 32667279 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:32667279C>T uc010ezu.2 + 18 4225 c.4091C>T c.(4090-4092)TCA>TTA p.S1364L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1364 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGAGTTCATTCAAATGGACCC 0.388 NA 6 43 0 0 0 0 HEATR5B 54497 broad.mit.edu 37 2 37217854 37217854 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:37217854G>C uc002rpp.1 - 34 5730 c.5634C>G c.(5632-5634)GTC>GTG p.V1878V HEATR5B_uc002rpo.1_Silent_p.V190V|HEATR5B_uc010ezy.1_Silent_p.V373V NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1878 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GTAATGACTGGACTCCTATTA 0.373 NA 10 47 0 0 0 0 C2orf78 388960 broad.mit.edu 37 2 74041177 74041177 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:74041177C>G uc002sjr.1 + 2 792 c.671C>G c.(670-672)TCC>TGC p.S224C NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 224 ovary(2) 2 CCTCAACTATCCTGCCTGCAA 0.483 NA 18 74 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80097015 80097016 + Missense_Mutation DNP GG GG TT TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:80097015_80097016GG>TT uc010ysh.1 + 4 544_545 c.539_540GG>TT c.(538-540)GGG>GTT p.G180V CTNNA2_uc010yse.1_Missense_Mutation_p.G180V|CTNNA2_uc010ysf.1_Missense_Mutation_p.G180V|CTNNA2_uc010ysg.1_Missense_Mutation_p.G180V NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 180 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AAAGAGTTTGGGAAAGAGATGG 0.401 NA 8 52 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530635 80530635 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:80530635C>G uc002sok.1 - 2 580 c.310G>C c.(310-312)GTG>CTG p.V104L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 104 LRR 1.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TCCCCCTGCACGGAGCAGATG 0.597 NA HNSCC(69;0.2) 22 110 0 0 0 0 GPAT2 150763 broad.mit.edu 37 2 96689186 96689186 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:96689186G>A uc002svf.2 - 18 2122 c.1899C>T c.(1897-1899)ACC>ACT p.T633T GPAT2_uc002svd.2_Silent_p.T452T|GPAT2_uc002sve.2_Silent_p.T435T|GPAT2_uc002svg.2_Silent_p.T512T|GPAT2_uc010yuh.1_Silent_p.T562T|GPAT2_uc002svh.2_Intron NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 633 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 GGGAGCCTGGGGTCTAGGGGC 0.567 NA 10 41 0 0 0 0 KYNU 8942 broad.mit.edu 37 2 143712377 143712377 + Splice_Site SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:143712377A>G uc002tvl.2 + 5 504 c.374_splice c.e5-2 p.G125_splice KYNU_uc002tvk.2_Splice_Site_p.G125_splice|KYNU_uc010fnm.2_Splice_Site_p.G125_splice NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTATTTTACAGGAGCCAATG 0.303 NA 11 27 0 0 0 0 ATP5G3 518 broad.mit.edu 37 2 176043799 176043799 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:176043799G>C uc002ujz.3 - 3 570 c.300C>G c.(298-300)ATC>ATG p.I100M ATP5G3_uc002uka.3_Missense_Mutation_p.I100M|ATP5G3_uc002ukb.1_Missense_Mutation_p.I100M NM_001002258 NP_001002258 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial F0 100 Helical; (Potential). ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.147) CATAACCAATGATAAGGCTGC 0.388 NA 11 42 0 0 0 0 OSBPL6 114880 broad.mit.edu 37 2 179259094 179259094 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:179259094G>A uc002ulx.2 + 24 3006 c.2628G>A c.(2626-2628)GAG>GAA p.E876E OSBPL6_uc002uly.2_Silent_p.E901E|OSBPL6_uc010zfe.1_Silent_p.E845E|OSBPL6_uc002ulz.2_Silent_p.E840E|OSBPL6_uc002uma.2_Silent_p.E880E NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 876 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AAAGAGTAGAGGAACTCCAGA 0.348 NA 22 66 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179579978 179579978 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:179579978G>A uc010zfg.1 - 87 22427 c.22203C>T c.(22201-22203)TTC>TTT p.F7401F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4062F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8328 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) GCTTTTTGCGGAAAATGGGTG 0.388 NA 19 43 0 0 0 0 FRZB 2487 broad.mit.edu 37 2 183731215 183731215 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:183731215G>A uc002upa.1 - 1 284 c.66C>T c.(64-66)CTC>CTT p.L22L NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 22 brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GGAGCAGGCAGAGAGCAGCCA 0.706 NA 4 5 0 0 0 0 CFLAR 8837 broad.mit.edu 37 2 202005138 202005138 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:202005138C>T uc002uxb.3 + 5 1034 c.582C>T c.(580-582)CTC>CTT p.L194L CFLAR_uc002uwz.2_Silent_p.L194L|CFLAR_uc002uxa.3_Silent_p.L194L|CFLAR_uc010zhk.1_Silent_p.L98L|CFLAR_uc002uxc.3_Silent_p.L194L|CFLAR_uc010zhl.1_Silent_p.L98L|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.L194L|CFLAR_uc002uxe.2_Silent_p.L194L|CFLAR_uc002uxf.2_Silent_p.L194L|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Silent_p.L194L|CFLAR_uc010zhm.1_Silent_p.L98L|CFLAR_uc010fsz.2_5'UTR|CFLAR_uc002uxg.2_5'UTR|uc002uxh.1_RNA NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 194 Interaction with caspase-8 propeptide.|Interaction with FADD.|Interaction with caspase-3.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-8. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 AAAAGAGTCTCAAGGATCCTT 0.388 NA 13 38 0 0 0 0 ING5 84289 broad.mit.edu 37 2 242662623 242662623 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:242662623A>T uc002wcd.2 + 7 644 c.619_splice c.e7-2 p.C207_splice NM_032329 NP_115705 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTTACTTTGCAGTGTCCAATT 0.522 NA 57 191 0 0 0 0 CPXM1 56265 broad.mit.edu 37 20 2775946 2775946 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:2775946C>A uc002wgu.2 - 12 1901 c.1837G>T c.(1837-1839)GCC>TCC p.A613S CPXM1_uc010gas.2_Missense_Mutation_p.A539S NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 613 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GTGAGGAGGGCGTCTTTGTTG 0.517 NA 6 43 8.13e-05 0.000138603 1 0 ADAM33 80332 broad.mit.edu 37 20 3655732 3655732 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:3655732T>A uc002wit.2 - 4 362 c.275A>T c.(274-276)TAC>TTC p.Y92F ADAM33_uc002wir.1_Missense_Mutation_p.Y92F|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.Y92F|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.Y91F|ADAM33_uc010zqg.1_Missense_Mutation_p.Y91F|ADAM33_uc010zqh.1_Missense_Mutation_p.Y92F NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 92 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GGTTTCTATGTATCCTGGGGC 0.602 NA 21 52 0 0 0 0 C20orf12 55184 broad.mit.edu 37 20 18393348 18393348 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:18393348C>G uc010zsa.1 - 13 1640 c.1431G>C c.(1429-1431)CAG>CAC p.Q477H C20orf12_uc010zrz.1_5'UTR|C20orf12_uc002wqp.3_Missense_Mutation_p.Q168H|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.Q344H|C20orf12_uc002wqq.3_Missense_Mutation_p.Q458H NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 285 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) TCTCCTGCCTCTGCTTTTGAG 0.517 NA 19 174 0 0 0 0 BPIL3 128859 broad.mit.edu 37 20 31620830 31620830 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:31620830G>A uc010zuc.1 + 2 138 c.138G>A c.(136-138)AAG>AAA p.K46K BPIL3_uc010zud.1_5'UTR NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 46 extracellular region lipid binding ovary(1)|pancreas(1) 2 TCCTGGAGAAGATGGCAGCCG 0.557 NA 16 87 0 0 0 0 ZNF831 128611 broad.mit.edu 37 20 57767508 57767508 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:57767508C>G uc002yan.2 + 1 1434 c.1434C>G c.(1432-1434)GAC>GAG p.D478E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 478 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CGCCCCCAGACAAGTCTCGGC 0.662 NA 13 47 0 0 0 0 OGFR 11054 broad.mit.edu 37 20 61444725 61444725 + Silent SNP G G A rs74520364 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:61444725G>A uc002ydj.2 + 7 1793 c.1758G>A c.(1756-1758)CCG>CCA p.P586P OGFR_uc002ydk.2_Silent_p.P569P|OGFR_uc002ydl.2_Silent_p.P534P|uc011aam.1_Intron NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 586 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].|4. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity 0 Breast(26;3.65e-08) GCCCCAGCCCGGCAGGACCTA 0.741 NA 3 7 0 0 0 0 KRTAP20-1 337975 broad.mit.edu 37 21 31988891 31988891 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr21:31988891G>T uc011ade.1 + 1 118 c.118G>T c.(118-120)GGC>TGC p.G40C KRTAP6-1_uc002yop.2_5'Flank NM_181615 NP_853646 Q3LI63 KR201_HUMAN keratin associated protein 20-1 40 intermediate filament breast(1) 1 CTATGGAAATGGCTACTACTG 0.463 NA 11 42 1.09e-07 1.99e-07 1 0 ADARB1 104 broad.mit.edu 37 21 46596174 46596174 + Silent SNP G G A rs146135960 byFrequency TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr21:46596174G>A uc002zgy.2 + 4 993 c.558G>A c.(556-558)GCG>GCA p.A186A ADARB1_uc002zgr.2_Silent_p.A186A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.A186A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.A186A|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.A235A NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 186 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) CTGACAAGGCGGAGCCTCCCT 0.592 NA 6 26 0 0 0 0 PI4KA 5297 broad.mit.edu 37 22 21064999 21064999 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:21064999T>C uc002zsz.3 - 52 6128 c.5897A>G c.(5896-5898)TAC>TGC p.Y1966C PI4KA_uc010gsp.2_Missense_Mutation_p.Y357C|PI4KA_uc002zsy.3_Missense_Mutation_p.Y776C NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1966 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CACAGCCAGGTAGCCTCGGAC 0.587 NA 40 171 0 0 0 0 HIC2 23119 broad.mit.edu 37 22 21799710 21799710 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:21799710C>T uc002zur.3 + 3 756 c.526C>T c.(526-528)CAG>TAG p.Q176* HIC2_uc002zus.3_Nonsense_Mutation_p.Q176* NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 176 Q -> R (in Ref. 3; BAA82972). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) AGCTCGGTATCAGGGGCTCGT 0.677 NA 14 12 0 0 0 0 ZNRF3 84133 broad.mit.edu 37 22 29442723 29442723 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:29442723C>A uc003aeg.2 + 6 629 c.464C>A c.(463-465)GCT>GAT p.A155D ZNRF3_uc003aeh.1_Missense_Mutation_p.A155D NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 255 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 AACAGGCTGGCTGTGCAGGCT 0.562 NA 50 131 4.86e-25 9.9e-25 1 0 MTMR3 8897 broad.mit.edu 37 22 30412531 30412531 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:30412531G>A uc003agv.3 + 15 1846 c.1518G>A c.(1516-1518)CAG>CAA p.Q506Q MTMR3_uc003agu.3_Silent_p.Q506Q|MTMR3_uc003agw.3_Silent_p.Q506Q NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 506 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AACTGGTGCAGCATACCTATT 0.478 NA 39 120 0 0 0 0 PES1 23481 broad.mit.edu 37 22 30977575 30977575 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:30977575C>T uc003aij.1 - 7 761 c.687G>A c.(685-687)ACG>ACA p.T229T PES1_uc003aik.1_Silent_p.T229T|PES1_uc003ail.1_Silent_p.T212T|PES1_uc003aim.1_Silent_p.T229T|PES1_uc003ain.1_Silent_p.T90T|PES1_uc003aio.1_Silent_p.T90T NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 229 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 AGCCCAGCAGCGTGGTGTAGA 0.597 NA 5 34 0 0 0 0 DEPDC5 9681 broad.mit.edu 37 22 32217595 32217595 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:32217595G>A uc003als.2 + 23 2120 c.1978G>A c.(1978-1980)GAG>AAG p.E660K DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.E660K|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.E660K|DEPDC5_uc003alu.2_Missense_Mutation_p.E100K|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.1_Intron NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 660 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 AGAGCTGCTGGAGTTAGCATA 0.557 NA 24 217 0 0 0 0 MPPED1 758 broad.mit.edu 37 22 43821067 43821067 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:43821067G>C uc011apv.1 + 2 299 c.76G>C c.(76-78)GCA>CCA p.A26P MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.A26P|MPPED1_uc011apz.1_Missense_Mutation_p.A59P NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 26 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) CCTGGGCATGGCATTCTCCCA 0.697 NA 12 22 0 0 0 0 PARVG 64098 broad.mit.edu 37 22 44585010 44585010 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:44585010C>T uc011aqe.1 + 6 688 c.264C>T c.(262-264)CTC>CTT p.L88L PARVG_uc003bep.2_Silent_p.L88L|PARVG_uc011aqf.1_Silent_p.L88L|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 88 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) TGGCGGCGCTCAAGCTGGAAG 0.652 NA 5 61 0 0 0 0 GRAMD4 23151 broad.mit.edu 37 22 47033858 47033858 + Splice_Site SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:47033858G>T uc003bhx.2 + 2 322 c.283_splice c.e2+1 p.Q95_splice GRAMD4_uc010had.2_Splice_Site_p.Q34_splice NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CATTTCTTACGTGAGTACCAG 0.522 NA 31 94 9.04e-19 1.82e-18 1 0 CERK 64781 broad.mit.edu 37 22 47095335 47095335 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:47095335G>T uc003bia.2 - 8 925 c.818C>A c.(817-819)TCA>TAA p.S273* CERK_uc010hae.2_Nonsense_Mutation_p.S75* NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 273 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTGGTGGACTGAGGACACATC 0.612 NA 16 113 1.15e-07 2.11e-07 1 0 SMARCC1 6599 broad.mit.edu 37 3 47712147 47712147 + Splice_Site SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:47712147C>A uc003crq.2 - 19 2017 c.1899_splice c.e19+1 p.E633_splice SMARCC1_uc011bbc.1_Splice_Site|SMARCC1_uc011bbd.1_Splice_Site_p.E524_splice NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) AATCTGCTTACCTCCAGGAGT 0.289 NA 5 20 0.00198382 0.00329456 1 0 CNTN3 5067 broad.mit.edu 37 3 74350693 74350693 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:74350693C>A uc003dpm.1 - 15 2031 c.1951G>T c.(1951-1953)GAG>TAG p.E651* NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 651 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCGATGACCTCAGGCACTACA 0.448 NA 25 48 1.66e-10 3.14e-10 1 0 CNTN3 5067 broad.mit.edu 37 3 74411068 74411068 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:74411068C>T uc003dpm.1 - 10 1417 c.1337G>A c.(1336-1338)GGG>GAG p.G446E NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 446 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GCTCACATCCCCCTTCTTCCA 0.473 NA 12 35 0 0 0 0 POU1F1 5449 broad.mit.edu 37 3 87325510 87325510 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:87325510G>A uc003dqq.1 - 1 228 c.103C>T c.(103-105)CTA>TTA p.L35L POU1F1_uc010hoj.1_Silent_p.L35L NM_000306 NP_000297 P28069 PIT1_HUMAN pituitary specific transcription factor 1 35 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|skin(1) 2 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) GAGACTGGTAGACACTCGGCA 0.453 NA 14 64 0 0 0 0 LNP1 348801 broad.mit.edu 37 3 100170695 100170695 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:100170695C>A uc003dtx.3 + 3 1569 c.289C>A c.(289-291)CCA>ACA p.P97T LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA NM_001085451 NP_001078920 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 97 0 ATTCAAGGAGCCACTGGAATC 0.453 NA 15 59 3.46e-05 5.99e-05 1 0 ADCY5 111 broad.mit.edu 37 3 123019032 123019032 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:123019032G>A uc003egh.1 - 15 2835 c.2835C>T c.(2833-2835)CTC>CTT p.L945L ADCY5_uc003egg.1_Silent_p.L578L|ADCY5_uc003egi.1_Silent_p.L504L NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 945 Helical; (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CCTCCACGATGAGCACGTAGA 0.632 NA 5 58 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463595 130463595 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:130463595G>A uc003enj.2 - 2 1049 c.468C>T c.(466-468)GTC>GTT p.V156V NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 156 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TCCAACTGGTGACCATCACAT 0.443 NA 14 84 0 0 0 0 NEK11 79858 broad.mit.edu 37 3 130828653 130828653 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:130828653G>A uc003eny.2 + 5 669 c.343G>A c.(343-345)GAT>AAT p.D115N NEK11_uc003enx.2_Missense_Mutation_p.D115N|NEK11_uc003eoa.2_Missense_Mutation_p.D115N|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.D115N|NEK11_uc003enw.1_Missense_Mutation_p.D115N|NEK11_uc011blm.1_Missense_Mutation_p.D115N|NEK11_uc010hto.1_5'UTR NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 115 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 TCAGGGCCGAGATCTGGACGA 0.333 NA 8 101 0 0 0 0 ATP1B3 483 broad.mit.edu 37 3 141622516 141622516 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:141622516C>G uc003eug.1 + 2 338 c.164C>G c.(163-165)TCA>TGA p.S55* ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Nonsense_Mutation_p.S41* NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 55 Helical; Signal-anchor for type II membrane protein; (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 GCACTCTTCTCATTCACGATG 0.408 NA 16 81 0 0 0 0 CPB1 1360 broad.mit.edu 37 3 148562481 148562481 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:148562481G>T uc003ewl.2 + 8 728 c.705G>T c.(703-705)AAG>AAT p.K235N NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 235 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTGGAGAAAGACTCGCTCCA 0.438 NA 14 101 9.05e-12 1.76e-11 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) 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) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 9 56 0 0 0 0 ZNF639 51193 broad.mit.edu 37 3 179051458 179051458 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:179051458C>T uc003fjq.1 + 6 1049 c.706C>T c.(706-708)CGA>TGA p.R236* ZNF639_uc003fjr.1_Nonsense_Mutation_p.R236* NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 236 C2H2-type 2. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AAATGTGTGTCGAGTATGCAA 0.353 NA 18 71 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180324283 180324283 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:180324283G>T uc003fkk.2 + 9 1196 c.1064G>T c.(1063-1065)GGA>GTA p.G355V TTC14_uc003fkl.2_Missense_Mutation_p.G355V|TTC14_uc003fkm.2_Missense_Mutation_p.G355V NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 355 TPR 3. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GCGACAAAAGGAAGTTTGAAC 0.373 NA 11 135 5.51e-06 9.69e-06 1 0 C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 NA 3 73 0 0 0 0 ATP13A3 79572 broad.mit.edu 37 3 194169313 194169313 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:194169313C>T uc003fty.3 - 11 1425 c.1023G>A c.(1021-1023)GTG>GTA p.V341V ATP13A3_uc003ftz.1_Silent_p.V47V NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 341 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTATTCCTTTCACATCCACTG 0.333 NA 11 53 0 0 0 0 MUC20 200958 broad.mit.edu 37 3 195451995 195451995 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:195451995C>G uc010hzo.2 + 2 647 c.521C>G c.(520-522)TCA>TGA p.S174* MUC20_uc010hzp.2_Nonsense_Mutation_p.S139*|MUC20_uc011bte.1_5'Flank NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 345 10.|12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing.|Missing.|Missing.|Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GGCCTGTCCTCAGAGAGCAGC 0.587 NA 19 133 0 0 0 0 LDB2 9079 broad.mit.edu 37 4 16760821 16760821 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:16760821T>A uc003goz.2 - 2 511 c.195A>T c.(193-195)TTA>TTT p.L65F LDB2_uc003gpa.2_Missense_Mutation_p.L65F|LDB2_uc003gpb.2_Missense_Mutation_p.L65F|LDB2_uc011bxh.1_Missense_Mutation_p.L65F|LDB2_uc010iee.2_Missense_Mutation_p.L65F NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 65 LIM domain binding|transcription cofactor activity 0 ATGAAAGGGTTAATGTGGCGT 0.388 NA 11 47 0 0 0 0 SOD3 6649 broad.mit.edu 37 4 24801160 24801160 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:24801160G>T uc003gqz.2 + 2 222 c.17G>T c.(16-18)TGT>TTT p.C6F SOD3_uc003gqy.1_RNA NM_003102 NP_003093 P08294 SODE_HUMAN superoxide dismutase 3, extracellular precursor 6 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding 0 Breast(46;0.0503) GCGCTACTGTGTTCCTGCCTG 0.662 NA 3 13 0.004672 0.00764337 1 0 ATP8A1 10396 broad.mit.edu 37 4 42602537 42602538 + Splice_Site DNP TG TG AT TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:42602537_42602538TG>AT uc003gwr.2 - 6 642 c.410_splice c.e6-1 p.V137_splice ATP8A1_uc003gws.2_Splice_Site_p.V137_splice|ATP8A1_uc011byz.1_Splice_Site_p.V137_splice NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TTCTCAAAACTGGAAAGAGAAA 0.332 NA 5 27 0 0 0 0 ATP10D 57205 broad.mit.edu 37 4 47559897 47559897 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:47559897G>C uc003gxk.1 + 12 2205 c.2041G>C c.(2041-2043)GAG>CAG p.E681Q ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 681 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CCAGGTGTGTGAGAGCCCCCA 0.552 NA 6 44 0 0 0 0 AASDH 132949 broad.mit.edu 37 4 57221514 57221514 + Nonsense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:57221514G>A uc003hbn.2 - 6 1090 c.937C>T c.(937-939)CGA>TGA p.R313* AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Nonsense_Mutation_p.R160*|AASDH_uc003hbo.2_Nonsense_Mutation_p.R213*|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.R313*|AASDH_uc003hbp.2_Nonsense_Mutation_p.R313* NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 313 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GCTAATACTCGAAGAGAAGTA 0.368 NA 10 59 0 0 0 0 PPM1K 152926 broad.mit.edu 37 4 89189447 89189447 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:89189447C>A uc003hrm.3 - 5 1137 c.747G>T c.(745-747)TTG>TTT p.L249F NM_152542 NP_689755 Q8N3J5 PPM1K_HUMAN protein phosphatase 1K (PP2C domain containing) 249 PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) GAGGCTGCCCCAAACTATTCC 0.373 NA 12 37 6.43e-13 1.27e-12 1 0 FAM13A 10144 broad.mit.edu 37 4 89668809 89668809 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:89668809C>A uc003hse.1 - 18 2563 c.2355G>T c.(2353-2355)GCG>GCT p.A785A FAM13A_uc003hsa.1_Silent_p.A256A|FAM13A_uc003hsb.1_Silent_p.A459A|FAM13A_uc003hsd.1_Silent_p.A459A|FAM13A_uc003hsc.1_Silent_p.A445A|FAM13A_uc011cdq.1_Silent_p.A431A|FAM13A_uc003hsf.1_Silent_p.A371A|FAM13A_uc003hsg.1_Silent_p.A256A NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 785 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GGCTGCTTTCCGCTCGCTTCT 0.498 NA 25 141 3.74e-18 7.5e-18 1 0 GRID2 2895 broad.mit.edu 37 4 94693335 94693335 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:94693335C>G uc011cdt.1 + 16 2968 c.2710C>G c.(2710-2712)CCT>GCT p.P904A GRID2_uc011cdu.1_Missense_Mutation_p.P809A NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 904 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGATTTGACCCCTCTGGACAT 0.458 NA 5 80 0 0 0 0 CENPE 1062 broad.mit.edu 37 4 104035710 104035710 + Splice_Site SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:104035710C>T uc003hxb.1 - 46 7533 c.7443_splice c.e46-1 p.E2481_splice CENPE_uc003hxc.1_Splice_Site_p.E2360_splice NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AGCACTGATTCTAACAAAAAC 0.348 NA 5 25 0 0 0 0 COL25A1 84570 broad.mit.edu 37 4 109769944 109769944 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:109769944G>C uc003hze.1 - 26 1936 c.1405C>G c.(1405-1407)CCA>GCA p.P469A COL25A1_uc003hzg.2_Missense_Mutation_p.P469A|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P227A NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 469 Extracellular (Potential).|Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGGATTCCTGGAGATCCCTGC 0.348 NA 9 36 0 0 0 0 CAMK2D 817 broad.mit.edu 37 4 114376956 114376956 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:114376956C>T uc003ibi.2 - 18 2314 c.1455G>A c.(1453-1455)GGG>GGA p.G485G CAMK2D_uc003ibj.2_Intron|CAMK2D_uc003ibk.2_Intron|CAMK2D_uc003ibo.3_Silent_p.G519G NM_001221 NP_001212 Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II 485 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) AGTTTTCTTTCCCATTTGGAA 0.423 NA 6 36 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134084409 134084409 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:134084409G>T uc003iha.2 + 4 3901 c.3075G>T c.(3073-3075)ACG>ACT p.T1025T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 1025 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGACTAATACGCGAGCGCCTT 0.483 NA 14 134 6.72e-11 1.29e-10 1 0 ELF2 1998 broad.mit.edu 37 4 139980635 139980635 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:139980635C>T uc003ihp.1 - 9 1454 c.1248G>A c.(1246-1248)GCG>GCA p.A416A ELF2_uc003ihm.1_Silent_p.A368A|ELF2_uc003ihn.1_Silent_p.A356A|ELF2_uc003iho.1_Silent_p.A339A|ELF2_uc011chc.1_Silent_p.A231A NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 428 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) TTGGAGAGGTCGCTGTTGTTG 0.428 NA 12 34 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247311 153247311 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:153247311C>T uc003ims.2 - 10 1640 c.1491G>A c.(1489-1491)TTG>TTA p.L497L FBXW7_uc011cii.1_Silent_p.L497L|FBXW7_uc003imt.2_Silent_p.L497L|FBXW7_uc011cih.1_Silent_p.L321L|FBXW7_uc003imq.2_Silent_p.L417L|FBXW7_uc003imr.2_Silent_p.L379L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 497 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CATGACCCATCAAAACATGTA 0.453 NA Mis|N|D|F colorectal|endometrial|T-ALL 5 74 0 0 0 0 MARCH1 55016 broad.mit.edu 37 4 164466767 164466767 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:164466767G>C uc003iqs.1 - 7 1529 c.552C>G c.(550-552)ATC>ATG p.I184M MARCH1_uc003iqr.1_Missense_Mutation_p.I167M NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 184 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGCCTTGCTTGATTTCCTCCG 0.438 NA 3 39 0 0 0 0 TLL1 7092 broad.mit.edu 37 4 166795090 166795090 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:166795090G>A uc003irh.1 + 1 681 c.34G>A c.(34-36)GTG>ATG p.V12M TLL1_uc011cjn.1_Missense_Mutation_p.V12M|TLL1_uc011cjo.1_Translation_Start_Site NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 12 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GAGGATGCTCGTGTGGCTGGT 0.592 NA 8 120 0 0 0 0 GPM6A 2823 broad.mit.edu 37 4 176573010 176573010 + Silent SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:176573010A>G uc003iuf.2 - 4 1320 c.516T>C c.(514-516)AAT>AAC p.N172N GPM6A_uc011ckj.1_Silent_p.N165N|GPM6A_uc003iug.2_Silent_p.N172N|GPM6A_uc003iuh.2_Silent_p.N161N NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 172 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CCAAGCAGAGATTTGCTCCCT 0.463 NA 10 74 0 0 0 0 SDHA 6389 broad.mit.edu 37 5 228381 228381 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:228381A>T uc003jao.3 + 6 818 c.703A>T c.(703-705)ATC>TTC p.I235F SDHA_uc003jan.2_Missense_Mutation_p.I235F|SDHA_uc011clv.1_Missense_Mutation_p.I235F|SDHA_uc011clw.1_Missense_Mutation_p.I187F|SDHA_uc003jap.3_Missense_Mutation_p.I235F|SDHA_uc003jaq.3_Missense_Mutation_p.I10F|SDHA_uc003jar.3_5'Flank NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 235 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCGTGGTGTCATCGCACTGTG 0.428 NA Familial_Paragangliomas 3 38 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7717278 7717278 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:7717278C>A uc003jdz.1 + 12 1698 c.1631C>A c.(1630-1632)TCA>TAA p.S544* ADCY2_uc011cmo.1_Nonsense_Mutation_p.S364* NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 544 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AGAACCAAGTCACAAAAGAAG 0.239 NA 5 50 8.13e-05 0.000138603 1 0 CTNND2 1501 broad.mit.edu 37 5 11236806 11236806 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:11236806G>T uc003jfa.1 - 10 1903 c.1758C>A c.(1756-1758)GCC>GCA p.A586A CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A153A NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 586 ARM 3. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CACTGACCTCGGCTTTAATTT 0.443 NA 27 115 2.8e-10 5.28e-10 1 0 PARP8 79668 broad.mit.edu 37 5 50092850 50092850 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:50092850G>A uc003jon.3 + 14 1645 c.1463G>A c.(1462-1464)CGT>CAT p.R488H PARP8_uc011cpz.1_Missense_Mutation_p.R380H|PARP8_uc003joo.2_Missense_Mutation_p.R488H|PARP8_uc003jop.2_Missense_Mutation_p.R488H NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 488 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) GTACGAGACCGTGGCTTCCTG 0.294 NA 8 20 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256365 63256365 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:63256365C>A uc011cqt.1 - 1 1182 c.1182G>T c.(1180-1182)CTG>CTT p.L394L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 394 Helical; Name=7; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CGGGGTTAAGCAGAGAGTTGG 0.498 NA 47 159 4.01e-20 8.09e-20 1 0 HTR1A 3350 broad.mit.edu 37 5 63256923 63256923 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:63256923C>A uc011cqt.1 - 1 624 c.624G>T c.(622-624)CTG>CTT p.L208L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 208 Helical; Name=5; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCATGAGCAGCAGCGGGATGT 0.592 NA 37 122 2.66e-13 5.26e-13 1 0 MSH3 4437 broad.mit.edu 37 5 79966002 79966002 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:79966002C>G uc003kgz.2 + 4 919 c.666C>G c.(664-666)AAC>AAG p.N222K NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 222 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) AATCAGCTAACAAACGGTCCA 0.378 NA MMR 8 22 0 0 0 0 SRFBP1 153443 broad.mit.edu 37 5 121355833 121355833 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:121355833T>A uc003kst.1 + 6 475 c.403T>A c.(403-405)TCA>ACA p.S135T NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 135 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TGAAGTTGAGTCATCAAAGAA 0.368 NA 12 31 0 0 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562680 140562680 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:140562680C>T uc003liv.2 + 1 1701 c.546C>T c.(544-546)ATC>ATT p.I182I PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 182 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGTTCTAATCCATGAATTCA 0.458 NA 12 33 0 0 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563947 140563947 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:140563947C>A uc003liv.2 + 1 2968 c.1813C>A c.(1813-1815)CAG>AAG p.Q605K PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 605 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGTCGTACCAGCTGCTCAA 0.706 NA 35 101 2.87e-16 5.73e-16 1 0 ARAP3 64411 broad.mit.edu 37 5 141033762 141033762 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:141033762C>G uc003llm.2 - 33 4468 c.4390G>C c.(4390-4392)GAG>CAG p.E1464Q ARAP3_uc003lll.2_Missense_Mutation_p.E415Q|ARAP3_uc011dbe.1_Missense_Mutation_p.E1113Q|ARAP3_uc003lln.2_Missense_Mutation_p.E1295Q NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1464 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GGAGGGGGCTCAGGTGGCCTC 0.612 NA 15 48 0 0 0 0 PCDH1 5097 broad.mit.edu 37 5 141233941 141233941 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:141233941A>T uc003llp.2 - 5 3497 c.3380T>A c.(3379-3381)TTT>TAT p.F1127Y 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) AGAGTGGCCAAACTCACTGCA 0.587 NA 8 21 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169484632 169484632 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:169484632G>C uc003maf.2 + 44 4509 c.4429G>C c.(4429-4431)GGG>CGG p.G1477R DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.G969R|DOCK2_uc003mah.2_Missense_Mutation_p.G33R NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1477 DHR-2. 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) CAAGCTGCCGGGGATCCTGCG 0.582 NA 12 43 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180057697 180057697 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:180057697G>A uc003mma.3 - 3 337 c.258C>T c.(256-258)GGC>GGT p.G86G FLT4_uc003mlz.3_Silent_p.G86G|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.G86G|FLT4_uc011dgz.1_Silent_p.G86G|FLT4_uc011dha.1_Silent_p.G86G NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 86 Ig-like C2-type 1.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGCGTCTGTGCCCTCGCAGT 0.632 NA Congenital_Hereditary_Lymphedema 16 51 0 0 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216847 26216847 + Missense_Mutation SNP G G C rs149681157 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:26216847G>C uc003ngz.2 - 1 26 c.25C>G c.(25-27)CCT>GCT p.P9A HIST1H2AE_uc003nha.1_5'Flank NM_003518 NP_003509 P62807 H2B1C_HUMAN histone cluster 1, H2bg 9 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) TTCGGAGCAGGAGCTGACTTA 0.483 NA 11 67 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32036752 32036752 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:32036752C>G uc003nzl.2 - 16 5951 c.5749G>C c.(5749-5751)GAT>CAT p.D1917H NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1999 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCGTCTCTATCTGTGTACTGG 0.552 NA 17 61 0 0 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029282 41029282 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:41029282G>A uc003opl.2 + 2 494 c.347G>A c.(346-348)CGG>CAG p.R116Q UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 116 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) CCAGCCCTGCGGTACAATGTC 0.562 NA 13 155 0 0 0 0 BAI3 577 broad.mit.edu 37 6 70040462 70040462 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:70040462C>T uc003pev.3 + 23 3548 c.3100C>T c.(3100-3102)CTG>TTG p.L1034L BAI3_uc010kak.2_Silent_p.L1034L|BAI3_uc011dxx.1_Silent_p.L240L|BAI3_uc003pex.1_Silent_p.L164L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1034 Helical; Name=5; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CGCTGTTGTCCTGGTAAACAT 0.353 NA 5 26 0 0 0 0 FUT9 10690 broad.mit.edu 37 6 96651056 96651056 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:96651056C>G uc003pop.3 + 3 366 c.25C>G c.(25-27)CTT>GTT p.L9V NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 9 Cytoplasmic (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CAAAGGAATTCTTCGCCCATT 0.393 NA 15 69 0 0 0 0 FUT9 10690 broad.mit.edu 37 6 96651727 96651727 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:96651727T>C uc003pop.3 + 3 1037 c.696T>C c.(694-696)ATT>ATC p.I232I NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 232 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AAAATTTGATTCCTACCATAT 0.358 NA 5 21 0 0 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762242 130762243 + Missense_Mutation DNP CG CG GT TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:130762242_130762243CG>GT uc003qca.2 + 3 1546_1547 c.675_676CG>GT c.(673-678)TCCGTG>TCGTTG p.V226L TMEM200A_uc010kfh.2_Missense_Mutation_p.V226L|TMEM200A_uc010kfi.2_Missense_Mutation_p.V226L|TMEM200A_uc003qcb.2_Missense_Mutation_p.V226L NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 226 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TGGACAGCTCCGTGGAGGAGGA 0.49 NA 6 44 0 0 0 0 TAAR6 319100 broad.mit.edu 37 6 132891511 132891511 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:132891511C>A uc011eck.1 + 1 51 c.51C>A c.(49-51)AAC>AAA p.N17K NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 17 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GCTACGCGAACGTGAATGGGT 0.493 NA 18 76 2.35e-11 4.54e-11 1 0 TAAR1 134864 broad.mit.edu 37 6 132966284 132966284 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:132966284C>G uc003qdm.1 - 1 859 c.859G>C c.(859-861)GAT>CAT p.D287H NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 287 Extracellular (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) ATCAATACATCATTCAAAGTA 0.373 NA 10 45 0 0 0 0 EYA4 2070 broad.mit.edu 37 6 133802716 133802716 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:133802716G>T uc003qec.3 + 12 1544 c.1086G>T c.(1084-1086)CCG>CCT p.P362P EYA4_uc011ecq.1_Silent_p.P308P|EYA4_uc011ecr.1_Silent_p.P314P|EYA4_uc003qed.3_Silent_p.P362P|EYA4_uc003qee.3_Silent_p.P339P|EYA4_uc011ecs.1_Silent_p.P368P|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 362 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ATCCCTCCCCGCCTCCTGATA 0.448 NA 23 82 7.42e-09 1.38e-08 1 0 SYNE1 23345 broad.mit.edu 37 6 152554980 152554980 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:152554980C>T uc010kiw.2 - 112 21250 c.20648G>A c.(20647-20649)CGC>CAC p.R6883H SYNE1_uc010kiv.2_Missense_Mutation_p.R1407H|SYNE1_uc003qos.3_Missense_Mutation_p.R1407H|SYNE1_uc003qot.3_Missense_Mutation_p.R6812H|SYNE1_uc003qou.3_Missense_Mutation_p.R6883H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6883 Spectrin 21.|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) GCTATCAATGCGCGACAGCTC 0.512 NA HNSCC(10;0.0054) 10 39 0 0 0 0 RSPH3 83861 broad.mit.edu 37 6 159420840 159420840 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:159420840C>G uc003qrx.2 - 1 359 c.169G>C c.(169-171)GAC>CAC p.D57H RSPH3_uc010kju.2_Missense_Mutation_p.D57H|RSPH3_uc003qry.1_Missense_Mutation_p.D57H NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 57 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) AGGGTTCTGTCTGGGGGCGGG 0.682 NA 13 66 0 0 0 0 COL28A1 340267 broad.mit.edu 37 7 7412695 7412695 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:7412695C>G uc003src.1 - 32 2959 c.2842G>C c.(2842-2844)GAA>CAA p.E948Q COL28A1_uc011jxe.1_Missense_Mutation_p.E631Q NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 948 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGATTCATTTCTTTGTGGAAT 0.428 NA 8 39 0 0 0 0 TARP 445347 broad.mit.edu 37 7 38305125 38305125 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:38305125G>T uc003tge.1 - 5 959 c.582C>A c.(580-582)AAC>AAA p.N194K uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 CCAGAATCGTGTTGCTCTTCT 0.418 NA 20 183 6.13e-19 1.23e-18 1 0 PKD1L1 168507 broad.mit.edu 37 7 47913505 47913505 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:47913505G>A uc003tny.1 - 24 3888 c.3888C>T c.(3886-3888)GGC>GGT p.G1296G NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1296 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ACAGGTCCTCGCCCAGACAGT 0.502 NA 6 42 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55221793 55221793 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:55221793G>A uc003tqk.2 + 7 1083 c.837G>A c.(835-837)GTG>GTA p.V279V EGFR_uc003tqh.2_Silent_p.V279V|EGFR_uc003tqi.2_Silent_p.V279V|EGFR_uc003tqj.2_Silent_p.V279V|EGFR_uc010kzg.1_Silent_p.V234V|EGFR_uc011kco.1_Silent_p.V226V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 279 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGATGGATGTGAACCCCGAGG 0.587 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 67 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91730347 91730347 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:91730347G>C uc003ulg.2 + 45 11299 c.11074G>C c.(11074-11076)GAT>CAT p.D3692H AKAP9_uc003ulf.2_Missense_Mutation_p.D3684H|AKAP9_uc003uli.2_Missense_Mutation_p.D3315H|AKAP9_uc003ulj.2_Missense_Mutation_p.D1462H|AKAP9_uc003ull.2_Missense_Mutation_p.D588H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3696 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCTGAGCCCTGATTCTGAACA 0.383 NA T BRAF papillary thyroid 7 29 0 0 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99124010 99124010 + Silent SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:99124010A>G uc003uqv.2 + 6 1471 c.1347A>G c.(1345-1347)CTA>CTG p.L449L ZKSCAN5_uc010lfx.2_Silent_p.L449L|ZKSCAN5_uc003uqw.2_Silent_p.L449L|ZKSCAN5_uc003uqx.2_Silent_p.L376L|ZKSCAN5_uc003uqy.2_Silent_p.L185L NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 449 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCGAACACCTAAAACGCCACT 0.502 NA 54 173 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100679091 100679091 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:100679091C>A uc003uxp.1 + 3 4447 c.4394C>A c.(4393-4395)ACG>AAG p.T1465K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1465 Extracellular (Potential).|Ser-rich.|22.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCAACACGCCGGTGGCC 0.473 NA 80 288 5.42e-27 1.1e-26 1 0 FBXL13 222235 broad.mit.edu 37 7 102665637 102665637 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:102665637C>A uc003vaq.2 - 6 795 c.368G>T c.(367-369)AGG>ATG p.R123M FBXL13_uc010liq.1_Translation_Start_Site|FBXL13_uc010lir.1_Missense_Mutation_p.R123M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R123M|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 123 0 GAGTATTAACCTATTTTTCCA 0.318 NA 8 19 0.000442599 0.00074735 1 0 RELN 5649 broad.mit.edu 37 7 103237037 103237037 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:103237037C>A uc003vca.2 - 25 3565 c.3405G>T c.(3403-3405)CAG>CAT p.Q1135H RELN_uc010liz.2_Missense_Mutation_p.Q1135H NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1135 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCCGCCTATCTGGATGTAGA 0.502 NA 24 102 4.72e-08 8.75e-08 1 0 HYAL4 23553 broad.mit.edu 37 7 123516942 123516942 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:123516942C>T uc003vlc.2 + 5 1817 c.1179C>T c.(1177-1179)AAC>AAT p.N393N HYAL4_uc011knz.1_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 393 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 AGATGTGGAACGCGCCCAGTT 0.507 NA 10 60 0 0 0 0 TRYX3 136541 broad.mit.edu 37 7 141952173 141952173 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:141952173C>T uc003vxb.2 - 5 914 c.594G>A c.(592-594)CCG>CCA p.P198P TRYX3_uc003vxc.3_Silent_p.P198P NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 198 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) TGCAGATTGCCGGGGCAGCAG 0.393 NA 7 31 0 0 0 0 OR2A14 135941 broad.mit.edu 37 7 143826781 143826781 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:143826781G>C uc011kua.1 + 1 576 c.576G>C c.(574-576)TGG>TGC p.W192C NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CTGACACCTGGCTCAACCAGG 0.562 NA 48 240 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149486333 149486333 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:149486333C>A uc010lpk.2 + 30 4309 c.4309C>A c.(4309-4311)CGC>AGC p.R1437S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1437 LDL-receptor class A 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTCTGTGACCGCCAGGATGA 0.687 NA 6 29 0.00198382 0.00329456 1 0 RARRES2 5919 broad.mit.edu 37 7 150036164 150036164 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:150036164G>C uc003wha.2 - 4 403 c.286C>G c.(286-288)CGG>GGG p.R96G RARRES2_uc010lpp.1_Missense_Mutation_p.R96G NM_002889 NP_002880 Q99969 RARR2_HUMAN chemerin preproprotein 96 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) AGGCATTTCCGTTTCCTCTGT 0.617 NA 18 76 0 0 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1876769 1876769 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:1876769G>C uc003wpr.2 + 24 3052 c.2874G>C c.(2872-2874)GTG>GTC p.V958V ARHGEF10_uc003wps.2_Silent_p.V920V|ARHGEF10_uc010lre.2_Silent_p.V609V NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 983 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCCCGGCCGTGAGAGCTTCTG 0.612 NA 6 60 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3256980 3256980 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:3256980C>G uc011kwk.1 - 16 2731 c.2341G>C c.(2341-2343)GAT>CAT p.D781H CSMD1_uc011kwj.1_Missense_Mutation_p.D173H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 781 Extracellular (Potential).|CUB 5. 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) TGTAAAGAATCCTTATAATAT 0.388 NA 12 48 0 0 0 0 PNOC 5368 broad.mit.edu 37 8 28196682 28196682 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:28196682C>T uc010lva.2 + 3 460 c.252C>T c.(250-252)CTC>CTT p.L84L PNOC_uc003xgp.2_Silent_p.L84L|PNOC_uc011lau.1_Silent_p.L20L NM_006228 NP_006219 Q13519 PNOC_HUMAN prepronociceptin precursor 84 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1) 1 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) CGGCTGCTCTCTACCAGCCGA 0.652 NA 12 63 0 0 0 0 TEX15 56154 broad.mit.edu 37 8 30695362 30695362 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:30695362T>A uc003xil.2 - 3 7289 c.7289A>T c.(7288-7290)GAA>GTA p.E2430V NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2430 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTTAAATTTTCCTGTTGTCC 0.358 NA 39 157 0 0 0 0 MYST3 7994 broad.mit.edu 37 8 41791507 41791507 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:41791507C>G uc010lxb.2 - 18 4775 c.4231G>C c.(4231-4233)GAG>CAG p.E1411Q MYST3_uc010lxc.2_Missense_Mutation_p.E1411Q|MYST3_uc003xon.3_Missense_Mutation_p.E1411Q NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1411 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TCTTCCTCCTCTTTTAATTCG 0.507 NA 20 72 0 0 0 0 MYST3 7994 broad.mit.edu 37 8 41798738 41798738 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:41798738G>C uc010lxb.2 - 16 3205 c.2661C>G c.(2659-2661)CTC>CTG p.L887L MYST3_uc010lxc.2_Silent_p.L887L|MYST3_uc003xon.3_Silent_p.L887L NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 887 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TCTCTTCCAAGAGCAGTTTAG 0.483 NA 14 58 0 0 0 0 AP3M2 10947 broad.mit.edu 37 8 42024827 42024827 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:42024827G>A uc003xop.2 + 8 1240 c.949G>A c.(949-951)GGG>AGG p.G317R AP3M2_uc003xoo.2_Missense_Mutation_p.G317R|AP3M2_uc010lxe.2_Intron NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 317 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GATGCCCAAGGGGGTCCTGAA 0.522 NA 11 47 0 0 0 0 HOOK3 84376 broad.mit.edu 37 8 42868217 42868217 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:42868217A>T uc003xpr.2 + 20 2105 c.1863A>T c.(1861-1863)AAA>AAT p.K621N NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 621 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TAGATCCTAAACAGAATCAAG 0.333 NA T RET papillary thyroid 6 22 0 0 0 0 SNTG1 54212 broad.mit.edu 37 8 51617301 51617301 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:51617301G>A uc010lxy.1 + 17 1551 c.1180G>A c.(1180-1182)GAA>AAA p.E394K SNTG1_uc003xqs.1_Missense_Mutation_p.E394K|SNTG1_uc010lxz.1_Missense_Mutation_p.E394K|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 394 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTAGAAGTAGAACGGATACA 0.507 NA 4 31 0 0 0 0 ST18 9705 broad.mit.edu 37 8 53073977 53073977 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:53073977T>A uc003xqz.2 - 9 1708 c.1552A>T c.(1552-1554)ATA>TTA p.I518L ST18_uc011ldq.1_Missense_Mutation_p.I165L|ST18_uc011ldr.1_Missense_Mutation_p.I483L|ST18_uc011lds.1_Missense_Mutation_p.I423L|ST18_uc003xra.2_Missense_Mutation_p.I518L|ST18_uc003xrb.2_Missense_Mutation_p.I518L NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 518 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACTGTTTGTATGAGAGGGCGT 0.428 NA 24 78 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55533682 55533682 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:55533682G>T uc003xsd.1 + 2 304 c.156G>T c.(154-156)AGG>AGT p.R52S RP1_uc011ldy.1_Missense_Mutation_p.R52S NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 52 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCGGGGTCAGGGTGGTGGTCA 0.557 NA 15 65 7.93e-07 1.42e-06 1 0 VPS13B 157680 broad.mit.edu 37 8 100831006 100831006 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:100831006G>A uc003yiv.2 + 47 8697 c.8586G>A c.(8584-8586)GAG>GAA p.E2862E VPS13B_uc003yiw.2_Silent_p.E2837E NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2862 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TACATTTGGAGAAAAGGAGTC 0.373 NA 15 111 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100831079 100831079 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:100831079G>A uc003yiv.2 + 47 8770 c.8659G>A c.(8659-8661)GAA>AAA p.E2887K VPS13B_uc003yiw.2_Missense_Mutation_p.E2862K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2887 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCAAAACATAGAACCTGACCT 0.378 NA 13 67 0 0 0 0 SLC30A8 169026 broad.mit.edu 37 8 118183329 118183329 + Missense_Mutation SNP G G T rs139489847 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:118183329G>T uc003yoh.2 + 7 1116 c.886G>T c.(886-888)GGG>TGG p.G296W SLC30A8_uc010mcz.2_Missense_Mutation_p.G247W|SLC30A8_uc011lia.1_Missense_Mutation_p.G247W|SLC30A8_uc003yog.2_Missense_Mutation_p.G247W NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 296 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGCAGTCGACGGGGTGCTGTC 0.448 NA 14 85 1.5e-05 2.61e-05 1 0 COL14A1 7373 broad.mit.edu 37 8 121296005 121296005 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:121296005G>T uc003yox.2 + 32 4220 c.3955G>T c.(3955-3957)GTT>TTT p.V1319F COL14A1_uc003yoz.2_Missense_Mutation_p.V284F NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1319 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ATTGGTTGGGGTTATTTTAGA 0.358 NA 13 52 0.00136819 0.00228473 1 0 FAM135B 51059 broad.mit.edu 37 8 139155262 139155262 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:139155262G>T uc003yuy.2 - 16 3802 c.3631C>A c.(3631-3633)CGA>AGA p.R1211R FAM135B_uc003yux.2_Silent_p.R1112R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.R773R|FAM135B_uc003yvb.2_3'UTR NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1211 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCTAATTCGGGATATGGAG 0.398 NA HNSCC(54;0.14) 4 32 1.24e-05 2.16e-05 1 0 FAM135B 51059 broad.mit.edu 37 8 139165260 139165260 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:139165260C>T uc003yuy.2 - 13 1629 c.1458G>A c.(1456-1458)GTG>GTA p.V486V FAM135B_uc003yux.2_Silent_p.V387V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.V48V|FAM135B_uc003yvb.2_Silent_p.V48V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 486 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTTGTGTGGCCACATTCTCAC 0.393 NA HNSCC(54;0.14) 10 78 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139614357 139614357 + Splice_Site SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:139614357C>A uc003yvd.2 - 60 4632 c.4185_splice c.e60+1 p.R1395_splice COL22A1_uc011ljo.1_Splice_Site_p.R675_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTCCACTCACCCTTTCTCCT 0.572 NA HNSCC(7;0.00092) 20 61 5.35e-07 9.63e-07 1 0 TSNARE1 203062 broad.mit.edu 37 8 143425409 143425409 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:143425409G>T uc003ywk.2 - 4 781 c.663C>A c.(661-663)CTC>CTA p.L221L TSNARE1_uc011lju.1_Silent_p.L221L|TSNARE1_uc003ywj.2_Silent_p.L221L|TSNARE1_uc003ywl.3_Intron NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 221 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCACGGGCGTGAGAGCCAGGG 0.706 NA 10 41 1.34e-11 2.59e-11 1 0 JRK 8629 broad.mit.edu 37 8 143747266 143747266 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:143747266G>C uc003ywo.2 - 2 726 c.212C>G c.(211-213)TCC>TGC p.S71C JRK_uc003ywp.2_Missense_Mutation_p.S71C|JRK_uc010mew.1_Missense_Mutation_p.S71C NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cgccttgttggagtccgagct 0 NA 4 19 0 0 0 0 TSTA3 7264 broad.mit.edu 37 8 144696589 144696589 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:144696589C>T uc003yza.2 - 6 535 c.499G>A c.(499-501)GCT>ACT p.A167T TSTA3_uc003yzb.2_Missense_Mutation_p.A167T NM_003313 NP_003304 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 167 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity pancreas(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) GGGATGACAGCGGTGAAGGTG 0.662 NA 4 38 0 0 0 0 MPDZ 8777 broad.mit.edu 37 9 13168483 13168483 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:13168483C>A uc010mia.1 - 21 3193 c.3136G>T c.(3136-3138)GGC>TGC p.G1046C MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.G1046C|MPDZ_uc010mhz.2_Missense_Mutation_p.G1046C|MPDZ_uc011lmn.1_Missense_Mutation_p.G1046C|MPDZ_uc003zlb.3_Missense_Mutation_p.G1046C NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1046 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GCAATCCGGCCATCTCGACTA 0.453 NA 113 129 1.22e-62 2.5e-62 1 0 LINGO2 158038 broad.mit.edu 37 9 27950478 27950478 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:27950478G>A uc003zqu.1 - 2 386 c.192C>T c.(190-192)CTC>CTT p.L64L LINGO2_uc010mjf.1_Silent_p.L64L|LINGO2_uc003zqv.1_Silent_p.L64L NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 64 LRR 1.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TGTTTTTACTGAGGTCCAAGA 0.458 NA 72 94 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32631662 32631662 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:32631662C>T uc003zrg.1 - 1 4006 c.3916G>A c.(3916-3918)GTG>ATG p.V1306M uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1306 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAAGGTGGCACATTTGTTTGA 0.428 NA 91 134 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32633519 32633519 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:32633519G>A uc003zrg.1 - 1 2149 c.2059C>T c.(2059-2061)CCT>TCT p.P687S uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 687 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGATCCTGAGGTGTGCGCATA 0.433 NA 6 117 0 0 0 0 KIAA1539 80256 broad.mit.edu 37 9 35107755 35107755 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:35107755C>T uc003zwl.2 - 3 842 c.517G>A c.(517-519)GAG>AAG p.E173K KIAA1539_uc003zwm.2_Missense_Mutation_p.E173K|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.E173K|KIAA1539_uc003zwp.1_Missense_Mutation_p.E173K|KIAA1539_uc010mkk.1_Intron NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 173 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCTGGGGACTCCCCCAGGGAC 0.632 NA 15 109 0 0 0 0 SIT1 27240 broad.mit.edu 37 9 35650548 35650548 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:35650548A>T uc003zxe.1 - 2 284 c.187T>A c.(187-189)TTG>ATG p.L63M SIT1_uc003zxf.1_Intron NM_014450 NP_055265 Q9Y3P8 SIT1_HUMAN SHP2-interacting transmembrane adaptor protein 63 Cytoplasmic (Potential). regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CACTGGGACAAGTGTGCAGCC 0.597 NA 58 69 0 0 0 0 PGM5 5239 broad.mit.edu 37 9 71002492 71002492 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:71002492G>C uc004agr.2 + 4 914 c.685G>C c.(685-687)GCA>CCA p.A229P NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 229 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 TCGCATTGACGCAATGCACGG 0.468 NA 7 55 0 0 0 0 C9orf135 138255 broad.mit.edu 37 9 72435949 72435949 + Splice_Site SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:72435949T>A uc004ahl.2 + 1 217 c.152_splice c.e1+2 p.W51_splice C9orf135_uc011lrw.1_Splice_Site|C9orf135_uc010moq.2_Splice_Site|C9orf135_uc011lrx.1_Splice_Site|C9orf135_uc010mop.2_Splice_Site_p.W51_splice|uc004ahk.2_5'Flank NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 integral to membrane ovary(1) 1 GTATTCCTGGTGAGCGAAGTC 0.408 NA 10 39 0 0 0 0 TRPM3 80036 broad.mit.edu 37 9 73167807 73167807 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:73167807C>T uc004aid.2 - 23 3735 c.3491G>A c.(3490-3492)CGA>CAA p.R1164Q TRPM3_uc004ahu.2_Missense_Mutation_p.R1006Q|TRPM3_uc004ahv.2_Missense_Mutation_p.R966Q|TRPM3_uc004ahw.2_Missense_Mutation_p.R1036Q|TRPM3_uc004ahx.2_Missense_Mutation_p.R1023Q|TRPM3_uc004ahy.2_Missense_Mutation_p.R1026Q|TRPM3_uc004ahz.2_Missense_Mutation_p.R1013Q|TRPM3_uc004aia.2_Missense_Mutation_p.R1011Q|TRPM3_uc004aib.2_Missense_Mutation_p.R1001Q|TRPM3_uc004aic.2_Missense_Mutation_p.R1164Q NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1189 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TTTCCTCCATCGGCAGCACAG 0.527 NA 24 222 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320154 79320154 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:79320154C>A uc010mpk.2 - 8 7160 c.7036G>T c.(7036-7038)GAA>TAA p.E2346* PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2346 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CACGAGGCTTCAGATGAGCAG 0.473 NA 32 133 9.65e-13 1.9e-12 1 0 C9orf4 23732 broad.mit.edu 37 9 111903626 111903626 + Nonsense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:111903626G>A uc004bdw.1 - 4 859 c.859C>T c.(859-861)CAG>TAG p.Q287* NM_014334 NP_055149 Q9P0K9 CI004_HUMAN hypothetical protein LOC23732 287 integral to membrane 0 AGCTTACCCTGAATGGCTGGA 0.433 NA 5 34 0 0 0 0 UGCG 7357 broad.mit.edu 37 9 114676936 114676936 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:114676936C>T uc004bft.2 + 2 440 c.150C>T c.(148-150)CTC>CTT p.L50L NM_003358 NP_003349 Q16739 CEGT_HUMAN ceramide glucosyltransferase 50 Cytoplasmic (Potential). epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) ATAGCAAGCTCCCAGGTGTCT 0.368 NA 13 52 0 0 0 0 ALAD 210 broad.mit.edu 37 9 116155760 116155760 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:116155760T>C uc011lxf.1 - 2 282 c.80A>G c.(79-81)AAT>AGT p.N27S ALAD_uc011lxe.1_Missense_Mutation_p.N27S|ALAD_uc004bhl.3_Missense_Mutation_p.M1V NM_000031 NP_000022 P13716 HEM2_HUMAN delta-aminolevulinic acid dehydratase 27 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding 0 Aminolevulinic acid(DB00855) GTTGGAGGCATTGAGGGTGGT 0.547 NA 11 39 0 0 0 0 DENND1A 57706 broad.mit.edu 37 9 126429310 126429310 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:126429310C>G uc004bnz.1 - 8 735 c.502G>C c.(502-504)GAG>CAG p.E168Q DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.E136Q|DENND1A_uc004boa.1_Missense_Mutation_p.E168Q|DENND1A_uc004bob.1_Missense_Mutation_p.E138Q|DENND1A_uc004boc.2_Missense_Mutation_p.E136Q NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 168 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 CTTACATTCTCAGGTATGCTG 0.299 NA 5 31 0 0 0 0 SH2D3C 10044 broad.mit.edu 37 9 130511596 130511596 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:130511596C>A uc004bsc.2 - 5 1175 c.1033G>T c.(1033-1035)GTC>TTC p.V345F SH2D3C_uc010mxo.2_Missense_Mutation_p.V185F|SH2D3C_uc004bry.2_Missense_Mutation_p.V187F|SH2D3C_uc004brz.3_5'UTR|SH2D3C_uc011mak.1_5'UTR|SH2D3C_uc004bsa.2_Missense_Mutation_p.V188F|SH2D3C_uc004bsb.2_Missense_Mutation_p.V277F NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 345 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GAGGGGCTGACGGGGCTAGCA 0.657 NA 12 51 0.000978159 0.00164478 1 0 AIF1L 83543 broad.mit.edu 37 9 133993218 133993218 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:133993218C>G uc004cab.1 + 5 383 c.278C>G c.(277-279)TCA>TGA p.S93* AIF1L_uc004cad.1_Nonsense_Mutation_p.S119*|AIF1L_uc004cae.1_Nonsense_Mutation_p.S93*|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Nonsense_Mutation_p.S98* NM_031426 NP_113614 Q9BQI0 AIF1L_HUMAN ionized calcium binding adapter molecule 2 93 EF-hand 2; degenerate. actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding 0 AAGATGATCTCAGAGGTGACA 0.507 NA 8 69 0 0 0 0 BAT2L1 84726 broad.mit.edu 37 9 134308156 134308156 + Nonsense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:134308156A>T uc004can.3 + 2 323 c.268A>T c.(268-270)AAG>TAG p.K90* BAT2L1_uc004cam.1_Nonsense_Mutation_p.K90* NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 90 protein binding 0 ATGGGCAAACAAGCAGGATCA 0.577 NA 7 50 0 0 0 0 COL5A1 1289 broad.mit.edu 37 9 137716625 137716625 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:137716625A>T uc004cfe.2 + 62 5260 c.4878A>T c.(4876-4878)AAA>AAT p.K1626N uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1626 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCAGATGAAACGGCCCCTGG 0.632 NA 10 31 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139913671 139913671 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:139913671C>T uc011mem.1 - 10 1658 c.1510G>A c.(1510-1512)GAG>AAG p.E504K ABCA2_uc011mel.1_Missense_Mutation_p.E505K|ABCA2_uc004ckl.1_Missense_Mutation_p.E435K|ABCA2_uc004ckm.1_Missense_Mutation_p.E535K|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E281K NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 504 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTGCCCTGCTCCAGGAAGCTG 0.652 NA 6 31 0 0 0 0 WWC3 55841 broad.mit.edu 37 X 10106854 10106854 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:10106854T>A uc004csx.3 + 21 3160 c.2962T>A c.(2962-2964)TGC>AGC p.C988S WWC3_uc010nds.2_Missense_Mutation_p.C652S|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 988 Potential. ovary(4) 4 TGAGGAGCTCTGCGCCCTCCG 0.677 NA 7 28 0 0 0 0 CLCN4 1183 broad.mit.edu 37 X 10176392 10176392 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:10176392C>G uc004csy.3 + 9 1581 c.1151C>G c.(1150-1152)GCC>GGC p.A384G CLCN4_uc011mid.1_Missense_Mutation_p.A290G NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 384 Helical; (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GCCATCATTGCCTACCCCAAT 0.577 NA 47 261 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736348 12736348 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:12736348G>A uc004cuz.1 + 16 3909 c.3403G>A c.(3403-3405)GAT>AAT p.D1135N FRMPD4_uc011mij.1_Missense_Mutation_p.D1127N NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1135 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGAGCTCCTGATGGAGAAAC 0.512 NA 34 273 0 0 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29686564 29686564 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:29686564C>T uc004dby.2 + 6 1229 c.721C>T c.(721-723)CCA>TCA p.P241S NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 241 Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GACTGATAAGCCACCCAAGCT 0.368 NA 4 32 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31496268 31496268 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:31496268G>C uc004dda.1 - 59 9136 c.8892C>G c.(8890-8892)GGC>GGG p.G2964G DMD_uc004dcq.1_Silent_p.G235G|DMD_uc004dcr.1_Silent_p.G504G|DMD_uc004dcs.1_Silent_p.G504G|DMD_uc004dct.1_Silent_p.G504G|DMD_uc004dcu.1_Silent_p.G504G|DMD_uc004dcv.1_Silent_p.G504G|DMD_uc004dcw.2_Silent_p.G1620G|DMD_uc004dcx.2_Silent_p.G1623G|DMD_uc004dcz.2_Silent_p.G2841G|DMD_uc004dcy.1_Silent_p.G2960G|DMD_uc004ddb.1_Silent_p.G2956G NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2964 Spectrin 22. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGAGGAGATCGCCCACGGGCT 0.532 NA 4 28 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31496480 31496480 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:31496480C>G uc004dda.1 - 59 8924 c.8680G>C c.(8680-8682)GAG>CAG p.E2894Q DMD_uc004dcq.1_Missense_Mutation_p.E165Q|DMD_uc004dcr.1_Missense_Mutation_p.E434Q|DMD_uc004dcs.1_Missense_Mutation_p.E434Q|DMD_uc004dct.1_Missense_Mutation_p.E434Q|DMD_uc004dcu.1_Missense_Mutation_p.E434Q|DMD_uc004dcv.1_Missense_Mutation_p.E434Q|DMD_uc004dcw.2_Missense_Mutation_p.E1550Q|DMD_uc004dcx.2_Missense_Mutation_p.E1553Q|DMD_uc004dcz.2_Missense_Mutation_p.E2771Q|DMD_uc004dcy.1_Missense_Mutation_p.E2890Q|DMD_uc004ddb.1_Missense_Mutation_p.E2886Q NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2894 Spectrin 20. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCTCTCTCCTCAGGAGGCAGC 0.443 NA 17 83 0 0 0 0 ITIH5L 347365 broad.mit.edu 37 X 54823474 54823474 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:54823474G>A uc004dtj.2 - 2 188 c.158C>T c.(157-159)ACC>ATC p.T53I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 53 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GGTGACCAAGGTGTGGGCATA 0.473 NA 11 34 0 0 0 0 SLC7A3 84889 broad.mit.edu 37 X 70146774 70146774 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:70146774G>A uc004dyn.2 - 9 1562 c.1404C>T c.(1402-1404)ATC>ATT p.I468I SLC7A3_uc004dyo.2_Silent_p.I468I NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 468 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GTGGAGTGGGGATGGAGTTGA 0.483 NA 6 51 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964112 73964112 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:73964112C>T uc004eby.2 - 3 897 c.280G>A c.(280-282)GCT>ACT p.A94T NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 94 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTCACAGAAGCACTATTAGCA 0.512 NA 21 101 0 0 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104984567 104984567 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:104984567G>C uc004elz.1 + 8 1687 c.931G>C c.(931-933)GAA>CAA p.E311Q NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 311 Ig-like C2-type 3.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TGGAGAAAAAGAAGTTGAATT 0.443 NA 12 61 0 0 0 0 TRPC5 7224 broad.mit.edu 37 X 111097124 111097124 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:111097124T>A uc004epl.1 - 4 2030 c.1111A>T c.(1111-1113)ACA>TCA p.T371S TRPC5_uc004epm.1_Missense_Mutation_p.T371S NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 371 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TAGGATGCTGTGTGGCAGATA 0.498 NA 25 66 0 0 0 0 AMOT 154796 broad.mit.edu 37 X 112033890 112033890 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:112033890G>C uc004epr.2 - 7 2047 c.2047C>G c.(2047-2049)CAG>GAG p.Q683E AMOT_uc004eps.2_Missense_Mutation_p.Q274E NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 683 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 AAATATTTCTGCTCCCACTTT 0.493 NA 39 168 0 0 0 0 GABRQ 55879 broad.mit.edu 37 X 151820062 151820062 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:151820062C>G uc004ffp.1 + 8 995 c.975C>G c.(973-975)ATC>ATG p.I325M NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 325 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGTATCAAGGCCATTG 0.448 NA 33 84 0 0 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900413 151900413 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:151900413A>T uc010ntp.2 - 3 742 c.388T>A c.(388-390)TTC>ATC p.F130I MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.F130I|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 130 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GCCTTTGTGAATGGCTCCCTG 0.498 NA 47 117 0 0 0 0 SSTR1 6751 broad.mit.edu 37 14 38679129 38679130 + Frame_Shift_Ins INS - - T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:38679129_38679130insT uc001wul.1 + 3 1152_1153 c.535_536insT c.(535-537)CTGfs p.L179fs SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 179 Helical; Name=4; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GGTAGTAAACCTGGGCGTGTGG 0.644 NA 10 49 --- --- --- --- NA NA NA NA C17orf63 55731 broad.mit.edu 37 17 27085655 27085655 + Frame_Shift_Del DEL G G - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:27085655delG uc002hct.1 - 3 1589 c.1322delC c.(1321-1323)CCAfs p.P441fs C17orf63_uc010wax.1_Frame_Shift_Del_p.P441fs|C17orf63_uc010way.1_Frame_Shift_Del_p.P441fs|C17orf63_uc002hcw.2_Frame_Shift_Del_p.P313fs NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 441 ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) GTAGGCCAATGGGGCTGCCAT 0.612 NA 11 30 --- --- --- --- NA NA NA NA ZNF431 170959 broad.mit.edu 37 19 21365549 21365549 + Frame_Shift_Del DEL C C - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:21365549delC uc002npp.2 + 5 590 c.443delC c.(442-444)TCCfs p.S148fs ZNF431_uc010ecq.2_Frame_Shift_Del_p.S57fs|ZNF431_uc010ecr.2_Frame_Shift_Del_p.S149fs NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 AGAAAAGGCTCCGCAAGTGTA 0.358 NA 9 55 --- --- --- --- NA NA NA NA XKR3 150165 broad.mit.edu 37 22 17288660 17288660 + Frame_Shift_Del DEL A A - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:17288660delA uc002zlv.2 - 2 402 c.304delT c.(304-306)TGGfs p.W102fs XKR3_uc011agf.1_Frame_Shift_Del_p.W102fs NM_175878 NP_787074 Q5GH77 XKR3_HUMAN X Kell blood group precursor-related family, 102 Helical; (Potential). integral to membrane|plasma membrane large_intestine(1)|ovary(1)|skin(1) 3 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) AGAATGTGCCAAAAAAGTAAT 0.333 NA 18 55 --- --- --- --- NA NA NA NA DNAH8 1769 broad.mit.edu 37 6 38834618 38834618 + Frame_Shift_Del DEL T T - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:38834618delT uc003ooe.1 + 45 6608 c.6008delT c.(6007-6009)CTTfs p.L2003fs NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTTTACGTTCTTTACAAACTC 0.303 NA 10 18 --- --- --- --- NA NA NA NA TLE1 7088 broad.mit.edu 37 9 84199390 84199390 + Frame_Shift_Del DEL C C - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:84199390delC uc004aly.2 - 19 2619 c.2178delG c.(2176-2178)CGGfs p.R726fs TLE1_uc004alz.2_Frame_Shift_Del_p.R736fs|TLE1_uc011lsr.1_Frame_Shift_Del_p.R711fs NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 726 WD 5. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 CATAGGGGGTCCGCCAAGCAT 0.453 NA 15 87 --- --- --- --- NA NA NA NA