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 PRDM16 63976 broad.mit.edu 37 1 3342265 3342265 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:3342265G>A uc001akf.2 + 13 3140 c.3060G>A c.(3058-3060)CAG>CAA p.Q1020Q PRDM16_uc001akc.2_Silent_p.Q1019Q|PRDM16_uc001akd.2_Silent_p.Q1019Q|PRDM16_uc001ake.2_Silent_p.Q1020Q|PRDM16_uc009vlh.2_Silent_p.Q720Q NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 1020 Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 10.|Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCGGGCAGCAGACCAACCTGG 0.647 NA T EVI1 MDS|AML 24 104 0 0 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16046258 16046258 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:16046258C>T uc010obo.1 + 6 722 c.495C>T c.(493-495)TAC>TAT p.Y165Y NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 165 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TGGCCCCCTACATGCCCGACT 0.587 NA 14 83 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19487411 19487411 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:19487411C>T uc001bbi.2 - 38 5410 c.5406G>A c.(5404-5406)CAG>CAA p.Q1802Q UBR4_uc001bbm.1_Silent_p.Q1013Q NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1802 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCAGCCCCACCTGGTTCTGTA 0.512 NA 12 36 0 0 0 0 ALPL 249 broad.mit.edu 37 1 21903944 21903944 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:21903944G>T uc001bet.2 + 12 1635 c.1378G>T c.(1378-1380)GCC>TCC p.A460S ALPL_uc010odn.1_Missense_Mutation_p.A408S|ALPL_uc010odo.1_Missense_Mutation_p.A405S|ALPL_uc010odp.1_Missense_Mutation_p.A383S|ALPL_uc001beu.3_Missense_Mutation_p.A460S NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 460 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GGAGGACGTGGCCGTCTTCTC 0.667 NA 7 66 2.77e-08 2.99e-08 1 0 NRD1 4898 broad.mit.edu 37 1 52280475 52280475 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:52280475G>C uc001ctc.3 - 14 1976 c.1654C>G c.(1654-1656)CTT>GTT p.L552V NRD1_uc009vzb.2_Missense_Mutation_p.L247V|NRD1_uc001ctd.3_Missense_Mutation_p.L484V|NRD1_uc001cte.2_Missense_Mutation_p.L420V|NRD1_uc001ctf.2_Missense_Mutation_p.L484V|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.L352V NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 483 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 AACAGTGCAAGAGCCCAGCAT 0.378 NA 11 54 0 0 0 0 C1orf168 199920 broad.mit.edu 37 1 57254662 57254662 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:57254662G>A uc001cym.3 - 3 1309 c.903C>T c.(901-903)CCC>CCT p.P301P C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.P301P NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 301 ovary(3)|skin(2) 5 CCTGAGTCTTGGGAACAGCAG 0.602 NA 38 158 0 0 0 0 WLS 79971 broad.mit.edu 37 1 68659750 68659750 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:68659750G>A uc001def.1 - 2 538 c.267C>T c.(265-267)GAC>GAT p.D89D uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.D87D|WLS_uc001deg.1_Intron|WLS_uc001deh.1_Silent_p.D89D|WLS_uc009wbf.1_Silent_p.D44D NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 89 Lumenal (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 AAAACACGATGTCATTGGCTT 0.463 NA 18 86 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NA 7 236 0 0 0 0 MTMR11 10903 broad.mit.edu 37 1 149905309 149905309 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:149905309G>A uc001etl.3 - 10 1226 c.975C>T c.(973-975)CTC>CTT p.L325L MTMR11_uc001etm.1_Silent_p.L253L|MTMR11_uc010pbm.1_Silent_p.L297L|MTMR11_uc010pbn.1_Silent_p.L167L NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 325 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAGGCAGGCAGAGGGCCCTCA 0.557 NA 57 188 0 0 0 0 ARNT 405 broad.mit.edu 37 1 150808789 150808789 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:150808789C>T uc001evr.1 - 7 810 c.667G>A c.(667-669)GAG>AAG p.E223K ARNT_uc001evs.1_Missense_Mutation_p.E208K|ARNT_uc009wmb.1_Missense_Mutation_p.E214K|ARNT_uc009wmc.1_Missense_Mutation_p.E223K|ARNT_uc009wmd.1_Missense_Mutation_p.E208K|ARNT_uc009wme.1_Missense_Mutation_p.E223K|ARNT_uc010pcl.1_Missense_Mutation_p.E207K NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 223 PAS 1. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GAAAGCTGCTCACGAAGTTTA 0.448 NA T ETV6 AML 28 84 0 0 0 0 MRPL9 65005 broad.mit.edu 37 1 151732598 151732598 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:151732598C>A uc001eyv.2 - 7 817 c.732G>T c.(730-732)AAG>AAT p.K244N MRPL9_uc009wmz.2_RNA NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 244 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ATCTTTTGGTCTTGGGCTTCT 0.493 NA 25 70 1.64e-13 1.82e-13 1 0 ATP8B2 57198 broad.mit.edu 37 1 154309988 154309988 + Silent SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:154309988C>A uc001fey.1 + 11 1248 c.1059C>A c.(1057-1059)CTC>CTA p.L353L ATP8B2_uc001few.2_Silent_p.L334L|ATP8B2_uc001fex.2_Silent_p.L367L NM_001005855 NP_001005855 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform b 353 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCATCATCCTCAACACCGTTG 0.532 NA 117 403 1.39e-60 1.57e-60 1 0 PBXIP1 57326 broad.mit.edu 37 1 154926182 154926182 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:154926182C>T uc001ffr.2 - 2 75 c.16G>A c.(16-18)GAC>AAC p.D6N PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 6 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTATCAGAGTCTGGGCAGGAG 0.607 NA 10 24 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216369938 216369938 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:216369938G>A uc001hku.1 - 19 4595 c.4208C>T c.(4207-4209)TCT>TTT p.S1403F USH2A_uc001hkv.2_Missense_Mutation_p.S1403F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1403 Extracellular (Potential).|Fibronectin type-III 4. 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) TGATTGTTCAGAAAGCATATT 0.408 NA HNSCC(13;0.011) 39 129 0 0 0 0 CHML 1122 broad.mit.edu 37 1 241798757 241798757 + Silent SNP G G A rs113330678 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:241798757G>A uc001hzd.2 - 1 476 c.312C>T c.(310-312)TAC>TAT p.Y104Y OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 104 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CCTGACTGGCGTAGCAAAAAG 0.438 NA 116 342 0 0 0 0 OR2W3 343171 broad.mit.edu 37 1 248059077 248059077 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:248059077C>T uc001idp.1 + 3 458 c.189C>T c.(187-189)CTC>CTT p.L63L OR2W3_uc010pzb.1_Silent_p.L63L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACTTCTTCCTCGCCCACCTTT 0.572 NA 49 261 0 0 0 0 CAMK1D 57118 broad.mit.edu 37 10 12866500 12866500 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:12866500C>T uc001ilo.2 + 9 1105 c.870C>T c.(868-870)CAC>CAT p.H290H CAMK1D_uc001iln.2_Silent_p.H290H NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 290 Autoinhibitory domain (By similarity). calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) AAAACATCCACGAGTCCGTCA 0.517 NA 7 42 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62670718 62670718 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:62670718C>T uc001jli.2 - 5 661 c.223G>A c.(223-225)GAA>AAA p.E75K RHOBTB1_uc001jlh.2_Missense_Mutation_p.E75K|RHOBTB1_uc001jlj.2_Missense_Mutation_p.E75K|RHOBTB1_uc001jlk.2_Missense_Mutation_p.E75K|RHOBTB1_uc009xpe.1_Missense_Mutation_p.E75K|RHOBTB1_uc001jlm.2_Missense_Mutation_p.E75K NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 75 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) ACACTCACTTCATCAACAACA 0.488 NA 17 75 0 0 0 0 CCAR1 55749 broad.mit.edu 37 10 70520875 70520875 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:70520875G>C uc001joo.2 + 16 2151 c.2032G>C c.(2032-2034)GAA>CAA p.E678Q CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.E483Q|CCAR1_uc009xpx.1_Missense_Mutation_p.E652Q|CCAR1_uc001jon.1_Missense_Mutation_p.E624Q|CCAR1_uc010qiz.1_Missense_Mutation_p.E663Q|CCAR1_uc010qja.1_Missense_Mutation_p.E663Q|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 678 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 ACAAAAAGAAGAACAGAAGGA 0.348 NA 33 99 0 0 0 0 USP54 159195 broad.mit.edu 37 10 75331188 75331188 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:75331188G>A uc001juo.2 - 2 248 c.231C>T c.(229-231)TGC>TGT p.C77C USP54_uc001jup.2_Silent_p.C77C|USP54_uc010qkl.1_Silent_p.C77C NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 77 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CCTTGAGAGCGCAAAAGATGC 0.433 NA 4 134 0 0 0 0 TM9SF3 56889 broad.mit.edu 37 10 98311125 98311125 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:98311125C>G uc001kmm.3 - 7 1053 c.836G>C c.(835-837)GGA>GCA p.G279A TM9SF3_uc010qot.1_Missense_Mutation_p.G279A|TM9SF3_uc001kmn.1_Missense_Mutation_p.G48A NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 279 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) AAATACATCTCCATGCACCTG 0.353 NA 34 157 0 0 0 0 POLL 27343 broad.mit.edu 37 10 103344392 103344392 + Silent SNP G G A rs41540413 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:103344392G>A uc001ktg.1 - 4 1624 c.858C>T c.(856-858)CTC>CTT p.L286L DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.L286L|POLL_uc001ktj.1_Silent_p.L286L|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.L286L|POLL_uc001ktl.2_Silent_p.L198L|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.S144L NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 286 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGAAGCTCTTGAGGGCATTGA 0.562 NA DNA_polymerases_(catalytic_subunits) 42 107 0 0 0 0 POLL 27343 broad.mit.edu 37 10 103344516 103344516 + Nonsense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:103344516G>C uc001ktg.1 - 4 1500 c.734C>G c.(733-735)TCA>TGA p.S245* DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Nonsense_Mutation_p.S245*|POLL_uc001ktj.1_Nonsense_Mutation_p.S245*|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Nonsense_Mutation_p.S245*|POLL_uc001ktl.2_Nonsense_Mutation_p.S157*|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.Q103E NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 245 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CTTCTGGCTTGAGGGCTGTGC 0.582 NA DNA_polymerases_(catalytic_subunits) 26 66 0 0 0 0 ACADSB 36 broad.mit.edu 37 10 124803982 124803982 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:124803982G>C uc001lhb.2 + 7 998 c.881G>C c.(880-882)AGA>ACA p.R294T ACADSB_uc010qub.1_Missense_Mutation_p.R192T NM_001609 NP_001600 P45954 ACDSB_HUMAN acyl-Coenzyme A dehydrogenase, short/branched 294 Substrate binding. branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) AATGAAGGTAGAATAGGAATT 0.358 NA 20 72 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127414362 127414362 + Silent SNP C C T rs150180630 byFrequency TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:127414362C>T uc001liq.1 + 6 1040 c.747C>T c.(745-747)TTC>TTT p.F249F C10orf137_uc001lin.2_Silent_p.F249F|C10orf137_uc001lio.1_Silent_p.F249F|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTGCTCCCTTCGAAATGCCTT 0.463 NA 21 76 0 0 0 0 OR52J3 119679 broad.mit.edu 37 11 5068023 5068023 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:5068023G>C uc010qyv.1 + 1 268 c.268G>C c.(268-270)GAT>CAT p.D90H NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTCTGGTTTGATGCTCACGA 0.498 NA 19 112 0 0 0 0 KIF18A 81930 broad.mit.edu 37 11 28104463 28104463 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:28104463G>C uc001msc.2 - 9 1384 c.1202C>G c.(1201-1203)ACT>AGT p.T401S NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 401 Potential. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 ATTTTCATTAGTGAAGGCTTT 0.279 NA 23 75 0 0 0 0 APLNR 187 broad.mit.edu 37 11 57004030 57004030 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:57004030G>A uc001njo.2 - 1 898 c.449C>T c.(448-450)ACG>ATG p.T150M APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 150 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 AAGAACTGCCGTGGCCACGGC 0.647 NA 5 33 0 0 0 0 VWCE 220001 broad.mit.edu 37 11 61039224 61039224 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:61039224G>C uc001nra.2 - 14 1987 c.1708C>G c.(1708-1710)CTT>GTT p.L570V VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 570 VWFC 4. extracellular region calcium ion binding ovary(1) 1 TTGTCGTCAAGAGAGCAGCCT 0.498 NA 2 16 0 0 0 0 LGALS12 85329 broad.mit.edu 37 11 63283757 63283757 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:63283757G>A uc001nxa.2 + 9 1244 c.903G>A c.(901-903)GCG>GCA p.A301A LGALS12_uc001nxb.2_Silent_p.A292A|LGALS12_uc001nxc.2_Silent_p.A302A|LGALS12_uc001nxd.2_Silent_p.A240A|LGALS12_uc001nxe.2_Silent_p.A231A|LGALS12_uc009yot.2_Silent_p.A261A NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform 301 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 TGAAGCTGGCGCTCAATGGGC 0.632 NA 19 50 0 0 0 0 PYGM 5837 broad.mit.edu 37 11 64519416 64519416 + Missense_Mutation SNP T T A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:64519416T>A uc001oax.3 - 14 2565 c.1748A>T c.(1747-1749)CAT>CTT p.H583L PYGM_uc001oay.3_Missense_Mutation_p.H495L NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 583 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) GGTGATGACATGGAGGCAGTT 0.502 NA 20 95 0 0 0 0 CCDC67 159989 broad.mit.edu 37 11 93148192 93148192 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:93148192G>A uc001pdq.2 + 13 1650 c.1550G>A c.(1549-1551)AGA>AAA p.R517K CCDC67_uc001pdo.1_Missense_Mutation_p.R517K NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 517 ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GAGCCAAACAGAAGTACAATG 0.398 NA 91 113 0 0 0 0 C11orf88 399949 broad.mit.edu 37 11 111385713 111385713 + Silent SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:111385713G>C uc001pln.3 + 1 204 c.204G>C c.(202-204)CGG>CGC p.R68R BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Silent_p.R68R|C11orf88_uc001plo.1_Silent_p.R68R NM_001100388 NP_001093858 Q6PI97 CK088_HUMAN hypothetical protein LOC399949 isoform 2 68 0 CGGTGGCGCGGCCCAGGAGGA 0.602 NA OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 70 0 0 0 0 SLC6A13 6540 broad.mit.edu 37 12 333247 333247 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:333247G>A uc001qic.1 - 11 1275 c.1222C>T c.(1222-1224)CAC>TAC p.H408Y SLC6A13_uc009zdj.1_Missense_Mutation_p.H398Y|SLC6A13_uc010sdl.1_Missense_Mutation_p.H316Y NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 408 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CGGAACACGTGAGGGTACATG 0.562 NA 25 61 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6691446 6691446 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:6691446C>T uc001qpo.2 - 30 4536 c.4372G>A c.(4372-4374)GCA>ACA p.A1458T CHD4_uc001qpn.2_Missense_Mutation_p.A1451T|CHD4_uc001qpp.2_Missense_Mutation_p.A1483T|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1458 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GAGACATATGCCCTGTGTAAA 0.488 NA 21 70 0 0 0 0 ATN1 1822 broad.mit.edu 37 12 7045557 7045557 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:7045557C>T uc001qrw.1 + 5 1364 c.1127C>T c.(1126-1128)TCA>TTA p.S376L ATN1_uc001qrx.1_Missense_Mutation_p.S376L|ATN1_uc001qry.1_Missense_Mutation_p.S375L NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 376 Poly-Ser. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TTTCCTTATTCATCCTCTAGT 0.463 NA 44 134 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49434325 49434325 + Nonsense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:49434325G>A uc001rta.3 - 31 7228 c.7228C>T c.(7228-7230)CGA>TGA p.R2410* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2410 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCAGGCACTCGGGAGAAAGGG 0.647 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 41 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53680494 53680494 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:53680494C>T uc001sck.2 + 18 4065 c.3974C>T c.(3973-3975)TCT>TTT p.S1325F ESPL1_uc001scj.2_Missense_Mutation_p.S1000F|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1325 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 AAGTTAGCCTCTGCTCCCCTG 0.562 NA 16 49 0 0 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57872434 57872434 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:57872434C>G uc001sod.2 - 6 829 c.636G>C c.(634-636)AGG>AGC p.R212S ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R141S|ARHGAP9_uc001soc.2_Missense_Mutation_p.R141S|ARHGAP9_uc001soe.1_Missense_Mutation_p.R220S|ARHGAP9_uc010sro.1_Missense_Mutation_p.R141S NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 141 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) TGCTGACGCTCCTACACATTT 0.577 NA 38 158 0 0 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261196 62261196 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:62261196C>G uc001sqw.2 - 2 1524 c.11G>C c.(10-12)AGA>ACA p.R4T FAM19A2_uc001sqx.2_Missense_Mutation_p.R4T|FAM19A2_uc001sqy.2_RNA NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine 4 cytoplasm ovary(1) 1 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CTGTAAGTATCTCTTACTCAT 0.313 NA 23 113 0 0 0 0 CPM 1368 broad.mit.edu 37 12 69250400 69250400 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:69250400C>T uc001sup.2 - 9 1210 c.1149G>A c.(1147-1149)CAG>CAA p.Q383Q CPM_uc001sur.2_Silent_p.Q383Q|CPM_uc001suq.2_Silent_p.Q383Q NM_198320 NP_938079 P14384 CBPM_HUMAN carboxypeptidase M precursor 383 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding 0 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CACTGAAGTTCTGGGATTTCT 0.393 NA 32 124 0 0 0 0 CDK17 5128 broad.mit.edu 37 12 96691104 96691104 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:96691104C>G uc001tep.1 - 9 1306 c.817G>C c.(817-819)GAC>CAC p.D273H CDK17_uc009ztk.2_Missense_Mutation_p.D273H|CDK17_uc010svb.1_Missense_Mutation_p.D220H NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 273 Protein kinase. ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 TGTTTCAGGTCTTTATCCTGG 0.338 NA 9 67 0 0 0 0 MYBPC1 4604 broad.mit.edu 37 12 102046500 102046500 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:102046500G>C uc001tii.2 + 15 1598 c.1496G>C c.(1495-1497)GGT>GCT p.G499A MYBPC1_uc001tig.2_Missense_Mutation_p.G524A|MYBPC1_uc010svq.1_Missense_Mutation_p.G486A|MYBPC1_uc001tih.2_Missense_Mutation_p.G524A|MYBPC1_uc001tij.2_Missense_Mutation_p.G499A|MYBPC1_uc010svr.1_Missense_Mutation_p.G499A|MYBPC1_uc010svs.1_Missense_Mutation_p.G499A|MYBPC1_uc010svt.1_Missense_Mutation_p.G487A|MYBPC1_uc010svu.1_Missense_Mutation_p.G480A|MYBPC1_uc001tik.2_Missense_Mutation_p.G473A NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 499 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GAAGATGAAGGTGATTATGTA 0.358 NA 54 199 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104064480 104064480 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:104064480G>C uc001tjw.2 + 22 2452 c.2266G>C c.(2266-2268)GAT>CAT p.D756H NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 756 Extracellular (Potential).|EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCAGTGTGCAGATAGCCTCGG 0.502 NA 11 28 0 0 0 0 CKAP4 10970 broad.mit.edu 37 12 106633144 106633144 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:106633144C>T uc001tlk.2 - 2 1551 c.1467G>A c.(1465-1467)CTG>CTA p.L489L NM_006825 NP_006816 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 489 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction 0 CACTCCTCTTCAGCTCCTCCA 0.662 NA 32 89 0 0 0 0 SFRS8 6433 broad.mit.edu 37 12 132195869 132195869 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:132195869G>A uc001uja.1 + 1 235 c.95G>A c.(94-96)CGA>CAA p.R32Q SFRS8_uc010tbn.1_Missense_Mutation_p.R32Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_5'UTR NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 32 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) GGGGGCAGCCGAGTGGAGCTC 0.697 NA 8 32 0 0 0 0 SLC7A1 6541 broad.mit.edu 37 13 30096553 30096553 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:30096553C>G uc001uso.2 - 8 1477 c.1090G>C c.(1090-1092)GCC>CCC p.A364P NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 364 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCAGCCATGGCATAGATAACC 0.498 NA 30 150 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67800883 67800883 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:67800883C>A uc001vik.2 - 2 2382 c.1690G>T c.(1690-1692)GAT>TAT p.D564Y PCDH9_uc001vil.2_Missense_Mutation_p.D564Y|PCDH9_uc010thl.1_Missense_Mutation_p.D564Y|PCDH9_uc001vin.3_Missense_Mutation_p.D564Y NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 564 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCATTCTCATCCAGAACAGTA 0.428 NA 33 155 1.75e-11 1.92e-11 1 0 RBM26 64062 broad.mit.edu 37 13 79933752 79933752 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:79933752G>A uc001vkz.2 - 10 1516 c.1502C>T c.(1501-1503)TCT>TTT p.S501F RBM26_uc001vky.2_Missense_Mutation_p.S496F|RBM26_uc001vla.2_Missense_Mutation_p.S496F|RBM26_uc001vkx.2_Missense_Mutation_p.S208F NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 496 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) AGGCTCTCCAGAACCAATGGT 0.363 NA 70 202 0 0 0 0 TGDS 23483 broad.mit.edu 37 13 95233394 95233394 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:95233394G>C uc001vlw.2 - 6 627 c.506C>G c.(505-507)TCT>TGT p.S169C TGDS_uc001vlx.2_RNA NM_014305 NP_055120 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 169 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AGCTGCTTTAGATGATGCATA 0.299 NA 16 77 0 0 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745733 23745733 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:23745733C>T uc001wja.2 - 2 852 c.704G>A c.(703-705)AGG>AAG p.R235K HOMEZ_uc001wjb.2_Missense_Mutation_p.R237K NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 235 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GTTGGGACCCCTGCCTGCCTG 0.542 NA 37 105 0 0 0 0 SLC22A17 51310 broad.mit.edu 37 14 23816792 23816792 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:23816792G>A uc001wjl.2 - 7 1149 c.1093C>T c.(1093-1095)CGG>TGG p.R365W SLC22A17_uc010akk.2_Missense_Mutation_p.R147W|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.R365W NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 isoform a 365 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity 0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) AGGATGCCCCGGCGGCCAAAT 0.632 NA 24 62 0 0 0 0 CLMN 79789 broad.mit.edu 37 14 95670229 95670229 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:95670229G>A uc001yef.2 - 9 1573 c.1457C>T c.(1456-1458)TCT>TTT p.S486F NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 486 integral to membrane actin binding 0 Epithelial(152;0.193) GACCTTGTCAGAGGAGGATTC 0.468 NA 25 50 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95906119 95906119 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:95906119C>A uc001yei.3 - 12 2091 c.2076G>T c.(2074-2076)AGG>AGT p.R692S C14orf49_uc010avi.2_Missense_Mutation_p.R692S NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 692 Spectrin 2.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTGCCACCAGCCTCTAAAGGA 0.607 NA 24 63 3.01e-09 3.28e-09 1 0 PACS2 23241 broad.mit.edu 37 14 105850745 105850745 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:105850745C>G uc001yqt.2 + 17 1999 c.1824C>G c.(1822-1824)TTC>TTG p.F608L PACS2_uc001yqs.2_Missense_Mutation_p.F533L|PACS2_uc001yqv.2_Missense_Mutation_p.F612L|PACS2_uc001yqu.2_Missense_Mutation_p.F612L NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 608 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) ACAACAACTTCTTCCAGGACC 0.677 NA 12 35 0 0 0 0 RASL12 51285 broad.mit.edu 37 15 65357567 65357567 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:65357567C>T uc002aoi.1 - 2 363 c.148G>A c.(148-150)GAC>AAC p.D50N RASL12_uc002aoj.1_Intron|RASL12_uc010uir.1_Missense_Mutation_p.D39N NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN RAS-like, family 12 protein 50 small GTPase mediated signal transduction membrane GTP binding|GTPase activity skin(1) 1 AAGTTGGGGTCATATTCACTG 0.572 NA 8 20 0 0 0 0 WHAMM 123720 broad.mit.edu 37 15 83495204 83495204 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:83495204G>A uc002bje.2 + 7 2007 c.1501G>A c.(1501-1503)GAA>AAA p.E501K NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 501 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 GCAACAGGCTGAAGAAAGCAT 0.408 NA 37 133 0 0 0 0 ZNF592 9640 broad.mit.edu 37 15 85341666 85341666 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:85341666C>G uc002bld.2 + 7 3033 c.2697C>G c.(2695-2697)CTC>CTG p.L899L ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 899 C2H2-type 8. cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGTGCCCACTCTTGTTCGTGC 0.567 NA 29 60 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 87097594 87097594 + Silent SNP T T C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:87097594T>C uc002blz.1 + 20 2762 c.2682T>C c.(2680-2682)ACT>ACC p.T894T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 894 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TACTGTAGACTCTTCCCAAAA 0.398 NA 4 7 0 0 0 0 WDR90 197335 broad.mit.edu 37 16 711778 711778 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:711778C>T uc002cii.1 + 31 3909 c.3855C>T c.(3853-3855)ATC>ATT p.I1285I WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.I812I|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.I459I|WDR90_uc002cin.1_5'UTR NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1285 WD 14. ovary(1) 1 Hepatocellular(780;0.0218) GGGCAGACATCAGCCTTCAGG 0.647 NA 32 101 0 0 0 0 WDR90 197335 broad.mit.edu 37 16 716485 716485 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:716485C>T uc002cii.1 + 38 4825 c.4771C>T c.(4771-4773)CTA>TTA p.L1591L WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.L206L|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Silent_p.L190L|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1591 WD 20. ovary(1) 1 Hepatocellular(780;0.0218) GGGCACAGACCTATGGCTGGC 0.632 NA 13 36 0 0 0 0 GLYR1 84656 broad.mit.edu 37 16 4863755 4863755 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:4863755C>T uc002cxx.3 - 12 1139 c.1102G>A c.(1102-1104)GTC>ATC p.V368I GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.V282I|GLYR1_uc002cya.2_Missense_Mutation_p.V362I|GLYR1_uc010uxv.1_Missense_Mutation_p.V287I NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 368 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 AGCTCAGTGACGGTGTCAGCG 0.592 NA 6 29 0 0 0 0 TMC7 79905 broad.mit.edu 37 16 19063127 19063127 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:19063127C>G uc002dfq.2 + 13 1990 c.1860C>G c.(1858-1860)ATC>ATG p.I620M TMC7_uc002dfp.2_Missense_Mutation_p.I620M|TMC7_uc010vap.1_Missense_Mutation_p.I510M NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 620 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 CTCTGACAATCAGCATATCAC 0.413 NA 70 316 0 0 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456439 30456439 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:30456439C>T uc010ves.1 - 2 786 c.610G>A c.(610-612)GAG>AAG p.E204K SEPHS2_uc002dyh.1_Missense_Mutation_p.E147K|SEPHS2_uc010vet.1_Missense_Mutation_p.E86K NM_012248 NP_036380 Q99611 SPS2_HUMAN selenophosphate synthetase 2 204 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(2) 2 CCTCCTTCCTCAGCCGCATCC 0.517 NA 34 106 0 0 0 0 SETD1A 9739 broad.mit.edu 37 16 30976423 30976423 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:30976423G>A uc002ead.1 + 7 2046 c.1360G>A c.(1360-1362)GAA>AAA p.E454K NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 454 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCCTGAGAGAGAAGAAGTTCG 0.697 NA 11 41 0 0 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730193 53730193 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:53730193G>A uc002ehp.2 - 3 164 c.100C>T c.(100-102)CGG>TGG p.R34W RPGRIP1L_uc002eho.3_Missense_Mutation_p.R34W|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R34W|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R34W|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R34W|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R34W|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R34W NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 34 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) TTCATTGTCCGTGTTGTTGAA 0.373 NA 65 230 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58608533 58608533 + Silent SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:58608533G>C uc002env.2 - 16 2252 c.1959C>G c.(1957-1959)GCC>GCG p.A653A CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.A653A|CNOT1_uc002enx.2_Silent_p.A653A|CNOT1_uc002enz.1_Silent_p.A82A NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 653 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTTGCAGACAGGCCAACATTG 0.423 NA 32 105 0 0 0 0 FUK 197258 broad.mit.edu 37 16 70513582 70513582 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:70513582G>A uc002eyy.2 + 24 3312 c.3254G>A c.(3253-3255)TGA>TAA p.*1085* FUK_uc010cft.2_Silent_p.*1091*|FUK_uc002eyz.2_Silent_p.*576* NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 1085 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) CCTTTCCCATGAAGCTGGCTT 0.592 NA 13 45 0 0 0 0 AMAC1L3 643664 broad.mit.edu 37 17 7386198 7386198 + Missense_Mutation SNP T T A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7386198T>A uc010cmj.1 + 2 1010 c.895T>A c.(895-897)TAT>AAT p.Y299N ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank NM_001102614 NP_001096084 P0C7Q6 AMCL3_HUMAN acyl-malonyl condensing enzyme 1-like 3 299 DUF6 2.|Helical; (Potential). integral to membrane 0 Prostate(122;0.173) ACTGCAGTATTATATGCTCCA 0.577 NA 55 170 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) TCTGTGCGCCGGTCTCTCCCA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 53 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 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) 25 71 0 0 0 0 ALOX12B 242 broad.mit.edu 37 17 7983140 7983140 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7983140C>T uc002gjy.1 - 7 1135 c.874G>A c.(874-876)GAC>AAC p.D292N uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 292 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 GCCACCATGTCGTCTGTGACG 0.572 NA Multiple Myeloma(8;0.094) 13 35 0 0 0 0 ALOX12B 242 broad.mit.edu 37 17 7983186 7983186 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7983186C>G uc002gjy.1 - 7 1089 c.828G>C c.(826-828)CTG>CTC p.L276L uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 276 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 AGCGGCGGATCAGGCCGGGGT 0.652 NA Multiple Myeloma(8;0.094) 7 35 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11738200 11738200 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:11738200C>G uc002gne.2 + 49 9560 c.9492C>G c.(9490-9492)CTC>CTG p.L3164L DNAH9_uc010coo.2_Silent_p.L2458L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3164 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGCAGCTCTCAACACCCTGA 0.572 NA 4 31 0 0 0 0 CCDC55 84081 broad.mit.edu 37 17 28512309 28512309 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:28512309G>A uc002heu.2 + 7 1322 c.1294G>A c.(1294-1296)GAT>AAT p.D432N CCDC55_uc002hev.2_Missense_Mutation_p.D378N|CCDC55_uc010wbl.1_Missense_Mutation_p.D378N|CCDC55_uc010wbm.1_Missense_Mutation_p.D378N|CCDC55_uc002hex.2_Missense_Mutation_p.D378N NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 432 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 tgaaaataatgataaatacag 0.164 NA 10 34 0 0 0 0 NAGLU 4669 broad.mit.edu 37 17 40689478 40689478 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:40689478G>A uc002hzv.2 + 2 786 c.446G>A c.(445-447)CGC>CAC p.R149H NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 149 lysosome alpha-N-acetylglucosaminidase activity 0 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) GACTGGGCCCGCTGGGAGCGA 0.627 NA 4 133 0 0 0 0 C17orf57 124989 broad.mit.edu 37 17 45422422 45422422 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:45422422G>A uc002iln.2 + 8 886 c.475G>A c.(475-477)GAT>AAT p.D159N C17orf57_uc002ilm.2_Missense_Mutation_p.D159N|C17orf57_uc002ill.1_Missense_Mutation_p.D11N|C17orf57_uc010daz.1_Missense_Mutation_p.D159N NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 159 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 GACATTATATGATGAAGTAAC 0.313 NA 48 175 0 0 0 0 COX11 1353 broad.mit.edu 37 17 53040725 53040725 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:53040725C>G uc010wng.1 - 3 647 c.590G>C c.(589-591)GGA>GCA p.G197A COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.G197A NM_004375 NP_004366 Q9Y6N1 COX11_HUMAN COX11 homolog, cytochrome c oxidase assembly 197 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential). respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity ovary(1) 1 TGTAGAAATTCCAATTACTGG 0.323 NA 26 94 0 0 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171901 68171901 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:68171901G>A uc010dfg.2 + 2 1122 c.721G>A c.(721-723)GAG>AAG p.E241K KCNJ2_uc002jir.2_Missense_Mutation_p.E241K NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 241 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) TTCTGAAGGGGAGTATATCCC 0.448 NA 33 87 0 0 0 0 EXOC7 23265 broad.mit.edu 37 17 74085376 74085376 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:74085376C>T uc002jqs.2 - 9 1175 c.1080G>A c.(1078-1080)GAG>GAA p.E360E EXOC7_uc010dgv.1_Silent_p.E256E|EXOC7_uc002jqq.2_Silent_p.E309E|EXOC7_uc010wsw.1_Silent_p.E332E|EXOC7_uc010wsx.1_Silent_p.E301E|EXOC7_uc002jqr.2_Silent_p.E278E|EXOC7_uc010wsv.1_Silent_p.E268E NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 360 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) AGGCATCGGTCTCCACGTCCA 0.637 NA 18 45 0 0 0 0 RPTOR 57521 broad.mit.edu 37 17 78681774 78681774 + Missense_Mutation SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:78681774A>G uc002jyt.1 + 4 1287 c.482A>G c.(481-483)AAC>AGC p.N161S RPTOR_uc002jys.2_Missense_Mutation_p.N161S|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.N161S NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 161 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CCCACAGTCAACGGGGAGGTC 0.592 NA 11 28 0 0 0 0 FAM59A 64762 broad.mit.edu 37 18 29867529 29867529 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr18:29867529C>A uc002kxl.2 - 4 1087 c.1031G>T c.(1030-1032)CGT>CTT p.R344L FAM59A_uc002kxk.1_Missense_Mutation_p.R344L NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 344 ovary(1)|skin(1) 2 TTTCACATCACGGACAGCCCG 0.562 NA 33 67 4.34e-12 4.79e-12 1 0 MYO5B 4645 broad.mit.edu 37 18 47563335 47563335 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr18:47563335C>T uc002leb.2 - 4 628 c.340G>A c.(340-342)GAA>AAA p.E114K MYO5B_uc002lec.1_Missense_Mutation_p.E113K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 114 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GGCAACTGTTCATAAGGATTA 0.468 NA 17 40 0 0 0 0 POLRMT 5442 broad.mit.edu 37 19 618526 618526 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:618526G>T uc002lpf.1 - 17 3440 c.3384C>A c.(3382-3384)GAC>GAA p.D1128E NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1128 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) TGTGGGAGGAGTCCAGCGAGT 0.662 NA 11 30 6.4e-05 6.78e-05 1 0 TUBB4 10382 broad.mit.edu 37 19 6501305 6501305 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:6501305G>C uc002mfg.1 - 3 377 c.270C>G c.(268-270)TTC>TTG p.F90L TUBB4_uc002mff.1_Missense_Mutation_p.F18L NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 90 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) CACCAAACACGAAGTTGTCCG 0.592 NA 11 57 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9056712 9056712 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:9056712G>A uc002mkp.2 - 3 30938 c.30734C>T c.(30733-30735)TCC>TTC p.S10245F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10247 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 TTCTGGGAAGGAGGTTATCCC 0.463 NA 24 62 0 0 0 0 CCDC151 115948 broad.mit.edu 37 19 11545748 11545748 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:11545748C>T uc002mrs.2 - 1 233 c.90G>A c.(88-90)AGG>AGA p.R30R CCDC151_uc010dxz.2_Silent_p.R30R|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 30 ovary(1) 1 CCGAAGCCTCCCTGCCCTTGA 0.667 NA OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 97 0 0 0 0 SFRS16 11129 broad.mit.edu 37 19 45561076 45561076 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:45561076C>T uc002pak.2 + 7 631 c.533C>T c.(532-534)GCG>GTG p.A178V SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.A116V|SFRS16_uc002pam.2_Missense_Mutation_p.A178V|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 178 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GTAGAGAAGGCGGCAGAAAAG 0.612 NA 27 131 0 0 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935484 47935484 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:47935484C>T uc002pgx.2 - 9 2607 c.2329G>A c.(2329-2331)GTT>ATT p.V777I SLC8A2_uc010xyq.1_Missense_Mutation_p.V533I|SLC8A2_uc010xyr.1_Missense_Mutation_p.V240I|SLC8A2_uc010ele.2_Missense_Mutation_p.V777I NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 777 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TTGAGGCCAACGGTGCAGCCG 0.607 NA 14 89 0 0 0 0 CCDC114 93233 broad.mit.edu 37 19 48801464 48801464 + Silent SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:48801464G>T uc002pir.2 - 11 1946 c.1263C>A c.(1261-1263)CTC>CTA p.L421L CCDC114_uc002piq.2_Silent_p.L230L|CCDC114_uc002pio.2_Silent_p.L458L|CCDC114_uc002pis.1_Silent_p.L101L|CCDC114_uc002pit.1_Silent_p.L458L NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 421 ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GCACTGTCAGGAGCTCCACCA 0.652 NA 13 63 5.51e-06 5.84e-06 1 0 HAS1 3036 broad.mit.edu 37 19 52216936 52216936 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:52216936C>T uc002pxo.1 - 5 1516 c.1481G>A c.(1480-1482)CGG>CAG p.R494Q HAS1_uc010epc.1_Missense_Mutation_p.R94Q|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R501Q|HAS1_uc002pxp.1_Missense_Mutation_p.R493Q NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 494 Extracellular (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GGCCAGCTTCCGCCGGCCCGA 0.687 NA 5 4 0 0 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52709301 52709301 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:52709301C>T uc002pyp.2 + 3 414 c.255C>T c.(253-255)TAC>TAT p.Y85Y PPP2R1A_uc010ydk.1_Intron|PPP2R1A_uc010epm.1_Silent_p.Y125Y|PPP2R1A_uc002pyq.2_Translation_Start_Site NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 85 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 3.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GCCCAGAGTACGTGCACTGCC 0.612 NA Mis clear cell ovarian carcinoma 26 118 0 0 0 0 ZNF160 90338 broad.mit.edu 37 19 53578367 53578367 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:53578367G>C uc010eqk.2 - 5 501 c.85C>G c.(85-87)CAG>GAG p.Q29E ZNF160_uc002qaq.3_Missense_Mutation_p.Q29E|ZNF160_uc002qar.3_Missense_Mutation_p.Q29E|ZNF160_uc002qas.3_Missense_Mutation_p.Q29E NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 29 KRAB. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) AAGATCCTCTGAGCAGGGTCC 0.453 NA 68 134 0 0 0 0 FCAR 2204 broad.mit.edu 37 19 55401040 55401040 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:55401040G>A uc002qhr.1 + 5 872 c.675G>A c.(673-675)ACG>ACA p.T225T FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T176T|FCAR_uc010esi.1_Silent_p.T102T|FCAR_uc002qhu.1_Silent_p.T129T|FCAR_uc002qhv.1_Silent_p.T203T|FCAR_uc002qhw.1_Silent_p.T213T|FCAR_uc002qhx.1_Silent_p.T117T|FCAR_uc002qhy.1_Silent_p.T191T|FCAR_uc002qhz.1_Missense_Mutation_p.A189T|FCAR_uc002qia.1_Silent_p.T116T NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 225 Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) ATTACACGACGCAGAACTTGA 0.527 NA 123 537 0 0 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824413 55824413 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:55824413G>A uc010esw.1 - 8 689 c.516C>T c.(514-516)CTC>CTT p.L172L TMEM150B_uc010yfu.1_Silent_p.L172L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 172 Helical; (Potential). integral to membrane 0 AGCAGGCGTGGAGGACGATCA 0.687 NA 5 15 0 0 0 0 ZIM3 114026 broad.mit.edu 37 19 57646830 57646830 + Nonsense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:57646830G>C uc002qnz.1 - 5 1261 c.875C>G c.(874-876)TCA>TGA p.S292* NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 292 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AATGAGGGTTGAGTTCTGCCT 0.378 NA 118 195 0 0 0 0 VN1R1 57191 broad.mit.edu 37 19 57966870 57966870 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:57966870C>T uc002qos.1 - 1 985 c.985G>A c.(985-987)GAT>AAT p.D329N ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 329 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) ATATGAGTATCACTCATGATG 0.463 NA 30 99 0 0 0 0 NT5C1B 93034 broad.mit.edu 37 2 18745214 18745214 + Missense_Mutation SNP C C T rs140939592 byFrequency TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:18745214C>T uc002rcz.2 - 10 1785 c.1681G>A c.(1681-1683)GAA>AAA p.E561K NT5C1B_uc002rcy.2_Missense_Mutation_p.E561K|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Missense_Mutation_p.E501K|NT5C1B_uc002rda.2_Missense_Mutation_p.E501K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E578K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E544K|NT5C1B_uc010exs.2_Missense_Mutation_p.E563K NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 561 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AAAAGAGCTTCGTCTATCTCT 0.537 NA 38 118 0 0 0 0 XDH 7498 broad.mit.edu 37 2 31621533 31621533 + Silent SNP G G A rs118042822 by1000genomes TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:31621533G>A uc002rnv.1 - 5 418 c.339C>T c.(337-339)TGC>TGT p.C113C NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 113 Iron-sulfur (2Fe-2S) 2. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGCAGAACCCGCACTGGGAGC 0.552 NA 55 176 0 0 0 0 FAM98A 25940 broad.mit.edu 37 2 33813507 33813507 + Silent SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:33813507A>G uc002rpa.1 - 4 491 c.417T>C c.(415-417)GGT>GGC p.G139G FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.G16G NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 139 ovary(1) 1 all_hematologic(175;0.115) AGACCTCACTACCGCCTCCTT 0.413 NA 41 180 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61447483 61447483 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:61447483C>T uc002sbe.2 - 67 8031 c.8009G>A c.(8008-8010)CGG>CAG p.R2670Q NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2670 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CAAAAGAAACCGCTCGACCCA 0.378 NA 103 383 0 0 0 0 C2orf3 6936 broad.mit.edu 37 2 75921517 75921517 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:75921517C>T uc002sno.2 - 6 1000 c.870G>A c.(868-870)CTG>CTA p.L290L C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.L121L|C2orf3_uc010fft.2_5'UTR NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 290 Potential. negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CATACTCCCTCAGGTGTGAGC 0.294 NA 51 178 0 0 0 0 RFTN2 130132 broad.mit.edu 37 2 198498526 198498526 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:198498526C>G uc002uuo.3 - 4 1036 c.634G>C c.(634-636)GAG>CAG p.E212Q NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 212 plasma membrane 0 AGTTCTTCCTCAATTCCGCTT 0.403 NA 65 155 0 0 0 0 STK36 27148 broad.mit.edu 37 2 219562684 219562684 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:219562684C>T uc002viu.2 + 25 3283 c.3017C>T c.(3016-3018)GCC>GTC p.A1006V STK36_uc002viv.2_Missense_Mutation_p.A985V|STK36_uc002viw.2_Missense_Mutation_p.A184V|STK36_uc002vix.2_Missense_Mutation_p.A51V NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1006 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGTGTCTTGGCCGACCTCAGG 0.547 NA 4 172 0 0 0 0 FARP2 9855 broad.mit.edu 37 2 242312558 242312558 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:242312558G>A uc002wbi.1 + 2 153 c.36G>A c.(34-36)CAG>CAA p.Q12Q FARP2_uc010zoq.1_Silent_p.Q12Q|FARP2_uc010zor.1_Silent_p.Q12Q NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 12 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GAGTCCTGCAGACTGCAGGGA 0.488 NA 36 79 0 0 0 0 SIRPG 55423 broad.mit.edu 37 20 1629897 1629897 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:1629897G>A uc002wfm.1 - 2 296 c.231C>T c.(229-231)ATC>ATT p.I77I SIRPG_uc002wfn.1_Silent_p.I77I|SIRPG_uc002wfo.1_Silent_p.I77I NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 77 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 TTTGATTGTAGATTAATTCCC 0.517 NA 44 146 0 0 0 0 EPB41L1 2036 broad.mit.edu 37 20 34806864 34806864 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:34806864G>A uc002xfb.2 + 18 2506 c.2335G>A c.(2335-2337)GAA>AAA p.E779K EPB41L1_uc002xeu.2_Missense_Mutation_p.E677K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E751K|EPB41L1_uc002xev.2_Missense_Mutation_p.E778K|EPB41L1_uc002xew.2_Missense_Mutation_p.E670K|EPB41L1_uc002xex.2_Missense_Mutation_p.E599K|EPB41L1_uc002xey.2_Missense_Mutation_p.E529K|EPB41L1_uc002xez.2_Missense_Mutation_p.E677K|EPB41L1_uc010gfq.2_Missense_Mutation_p.E877K NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 779 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) GGTGGCCACGGAAATCCGTTC 0.582 NA 10 38 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40979290 40979290 + Nonsense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:40979290G>A uc002xkg.2 - 11 2027 c.1843C>T c.(1843-1845)CAG>TAG p.Q615* PTPRT_uc010ggj.2_Nonsense_Mutation_p.Q615* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 615 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCCGGGACTGAGCGGGTTTC 0.527 NA 30 139 0 0 0 0 C20orf111 51526 broad.mit.edu 37 20 42825779 42825779 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:42825779C>T uc002xlk.2 - 4 929 c.792G>A c.(790-792)GTG>GTA p.V264V NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 264 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCTCAATGGTCACATCATCCA 0.488 NA 30 159 0 0 0 0 STAU1 6780 broad.mit.edu 37 20 47734390 47734390 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:47734390G>A uc002xud.2 - 11 1844 c.1433C>T c.(1432-1434)TCA>TTA p.S478L STAU1_uc002xua.2_Missense_Mutation_p.S397L|STAU1_uc002xub.2_Missense_Mutation_p.S403L|STAU1_uc002xuc.2_Missense_Mutation_p.S397L|STAU1_uc002xue.2_Missense_Mutation_p.S397L|STAU1_uc002xuf.2_Missense_Mutation_p.S403L|STAU1_uc002xug.2_Missense_Mutation_p.S478L NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 478 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TACGTGGCCTGAAGAGATGTT 0.537 NA 24 93 0 0 0 0 PI4KA 5297 broad.mit.edu 37 22 21115663 21115663 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr22:21115663G>A uc002zsz.3 - 23 2777 c.2546C>T c.(2545-2547)TCA>TTA p.S849L NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 849 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) AGGATCTGTTGAACGCAGTAC 0.393 NA 23 46 0 0 0 0 CHDH 55349 broad.mit.edu 37 3 53852082 53852082 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:53852082G>A uc003dgz.2 - 9 1947 c.1507C>T c.(1507-1509)CGG>TGG p.R503W NM_018397 NP_060867 Q8NE62 CHDH_HUMAN choline dehydrogenase precursor 503 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding ovary(1)|central_nervous_system(1) 2 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GCTTTTGCCCGCACAAAGGCA 0.582 NA 4 141 0 0 0 0 TFG 10342 broad.mit.edu 37 3 100463729 100463729 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:100463729G>A uc003due.2 + 7 1223 c.774G>A c.(772-774)CCG>CCA p.P258P TFG_uc003duf.2_Silent_p.P258P|TFG_uc003dug.2_Silent_p.P254P|TFG_uc003duh.2_Silent_p.P254P|TFG_uc003dui.2_Silent_p.P258P NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 258 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 CACAGCAGCCGCAGGCTCCAC 0.468 NA T NTRK1|ALK papillary thyroid|ALCL|NSCLC 19 103 0 0 0 0 C3orf1 51300 broad.mit.edu 37 3 119236073 119236073 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:119236073G>A uc003ecn.2 + 6 831 c.618G>A c.(616-618)CTG>CTA p.L206L C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 206 Helical; (Potential). integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) GAGGCCTGCTGATGGCATTTC 0.453 NA 29 144 0 0 0 0 CD80 941 broad.mit.edu 37 3 119248743 119248743 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:119248743C>T uc003ecq.2 - 5 1137 c.742G>A c.(742-744)GCC>ACC p.A248T CD80_uc010hqt.1_Intron|CD80_uc010hqu.1_Intron NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 248 Helical; (Potential). interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) AAGGTAATGGCCCAGGATGGG 0.403 NA 20 114 0 0 0 0 CCDC48 79825 broad.mit.edu 37 3 128755858 128755858 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:128755858G>A uc011bkt.1 + 6 1488 c.1488G>A c.(1486-1488)CTG>CTA p.L496L NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 496 Potential. 0 ATGAGCACCTGAGGCTGGAGC 0.627 NA 20 65 0 0 0 0 AMOTL2 51421 broad.mit.edu 37 3 134086483 134086483 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:134086483G>A uc003eqf.2 - 3 1188 c.1071C>T c.(1069-1071)GCC>GCT p.A357A AMOTL2_uc003eqg.1_Silent_p.A299A|AMOTL2_uc003eqh.1_Silent_p.A299A|AMOTL2_uc003eqe.1_5'Flank NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 299 large_intestine(1) 1 AGGAGGCCTGGGCACTCACTG 0.667 NA 27 88 0 0 0 0 GRK7 131890 broad.mit.edu 37 3 141497261 141497261 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:141497261C>T uc011bnd.1 + 1 219 c.135C>T c.(133-135)TGC>TGT p.C45C NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 45 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TGCAGGGCTGCGCGGAGCTCC 0.687 NA 12 33 0 0 0 0 RAP2B 5912 broad.mit.edu 37 3 152880843 152880843 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:152880843G>C uc003ezr.2 + 1 815 c.361G>C c.(361-363)GAG>CAG p.E121Q NM_002886 NP_002877 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family precursor 121 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity lung(2) 2 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GGTGGACCTGGAGGGTGAGCG 0.627 NA 43 75 0 0 0 0 SLC7A14 57709 broad.mit.edu 37 3 170184960 170184960 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:170184960C>G uc003fgz.2 - 8 2515 c.2199G>C c.(2197-2199)CAG>CAC p.Q733H CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 733 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CATCTGACATCTGTTGGTAAT 0.532 NA 48 208 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043113 184043113 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:184043113G>A uc003fnp.2 + 19 3111 c.2913G>A c.(2911-2913)ACG>ACA p.T971T EIF4G1_uc003fno.1_Silent_p.T912T|EIF4G1_uc010hxw.1_Silent_p.T807T|EIF4G1_uc003fnt.2_Silent_p.T682T|EIF4G1_uc003fnq.2_Silent_p.T884T|EIF4G1_uc003fnr.2_Silent_p.T807T|EIF4G1_uc010hxx.2_Silent_p.T978T|EIF4G1_uc003fns.2_Silent_p.T931T|EIF4G1_uc010hxy.2_Silent_p.T978T|EIF4G1_uc003fnv.3_Silent_p.T972T|EIF4G1_uc003fnu.3_Silent_p.T971T|EIF4G1_uc003fnw.2_Silent_p.T978T|EIF4G1_uc003fnx.2_Silent_p.T776T|EIF4G1_uc003fny.3_Silent_p.T775T|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 971 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AAAAGAAGACGTCATCCCGCA 0.522 NA 32 162 0 0 0 0 WHSC1 7468 broad.mit.edu 37 4 1976646 1976646 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:1976646C>A uc003gdz.3 + 19 3605 c.3429C>A c.(3427-3429)AGC>AGA p.S1143R WHSC1_uc003geb.3_Missense_Mutation_p.S1143R|WHSC1_uc003gec.3_Missense_Mutation_p.S1143R|WHSC1_uc003ged.3_Missense_Mutation_p.S1143R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S362R|WHSC1_uc011bvh.1_Missense_Mutation_p.S204R|WHSC1_uc010icf.2_Missense_Mutation_p.S491R NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1143 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGAATCACAGCTGCCAGCCCA 0.507 NA T IGH@ MM 53 109 1.77e-36 1.99e-36 1 0 HGFAC 3083 broad.mit.edu 37 4 3444828 3444828 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:3444828G>A uc003ghc.2 + 3 353 c.350G>A c.(349-351)CGC>CAC p.R117H HGFAC_uc010icw.2_Missense_Mutation_p.R117H NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 117 Fibronectin type-II. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TACGGGGGCCGCATGCTGCAT 0.721 NA 3 16 0 0 0 0 TBC1D19 55296 broad.mit.edu 37 4 26719590 26719590 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:26719590G>A uc003gsf.3 + 14 1260 c.990G>A c.(988-990)TTG>TTA p.L330L TBC1D19_uc010iew.2_Silent_p.L330L|TBC1D19_uc011bxu.1_Silent_p.L265L NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 330 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) CATCTGTGTTGAGTCACTTTG 0.303 NA 34 105 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73990774 73990774 + Silent SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:73990774A>G uc003hgp.2 - 18 3465 c.3348T>C c.(3346-3348)GGT>GGC p.G1116G ANKRD17_uc003hgo.2_Silent_p.G1003G|ANKRD17_uc003hgq.2_Silent_p.G865G|ANKRD17_uc003hgr.2_Silent_p.G1115G|ANKRD17_uc011cbd.1_Silent_p.G681G NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1116 ANK 17. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTGGAGTAAAACCTGGAGAAA 0.378 NA 28 84 0 0 0 0 MAPKSP1 8649 broad.mit.edu 37 4 100808471 100808471 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:100808471C>T uc003hvg.2 - 4 334 c.85G>A c.(85-87)GGA>AGA p.G29R MAPKSP1_uc003hvi.2_RNA|MAPKSP1_uc003hvh.2_Missense_Mutation_p.G29R NM_021970 NP_068805 Q9UHA4 LTOR3_HUMAN MAPK scaffold protein 1 29 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade Ragulator complex protein binding 0 ACAGGTACTCCATCTCTATCT 0.269 NA 7 35 0 0 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552816 108552816 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:108552816C>G uc003hyk.2 - 11 1791 c.1707G>C c.(1705-1707)AAG>AAC p.K569N NM_005443 NP_005434 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 569 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CCATACGCTTCTTTTTCTTGT 0.423 NA 45 174 0 0 0 0 CASP6 839 broad.mit.edu 37 4 110612108 110612108 + Nonsense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:110612108G>A uc003hzn.1 - 6 619 c.541C>T c.(541-543)CAG>TAG p.Q181* CASP6_uc003hzo.1_Nonsense_Mutation_p.Q92* NM_001226 NP_001217 P55212 CASP6_HUMAN caspase 6 isoform alpha preproprotein 181 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1)|breast(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) TTCTCTGTCTGATTATCTACT 0.488 NA 24 84 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155256201 155256201 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:155256201C>T uc003inw.2 - 8 1035 c.1035G>A c.(1033-1035)TTG>TTA p.L345L DCHS2_uc003inx.2_Silent_p.L844L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 345 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAGAGACCATCAACGAAAGTG 0.408 NA 25 90 0 0 0 0 SNX25 83891 broad.mit.edu 37 4 186185722 186185722 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:186185722C>T uc003ixh.2 + 4 559 c.370C>T c.(370-372)CTC>TTC p.L124F NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 124 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGTGCAGTCTCTCAGCTTACG 0.403 NA 43 93 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23526395 23526395 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:23526395C>G uc003jgo.2 + 11 1380 c.1198C>G c.(1198-1200)CAG>GAG p.Q400E NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 400 C2H2-type 1. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CTTTTCAAGTCAGAAATTTCT 0.473 NA HNSCC(3;0.000094) 34 203 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33649669 33649669 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:33649669G>A uc003jia.1 - 8 1487 c.1324C>T c.(1324-1326)CGC>TGC p.R442C ADAMTS12_uc010iuq.1_Missense_Mutation_p.R442C NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 442 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCCAAGAAGCGGGTGATGTAC 0.532 NA HNSCC(64;0.19) 9 132 0 0 0 0 NIPBL 25836 broad.mit.edu 37 5 36985741 36985741 + Missense_Mutation SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:36985741A>G uc003jkl.3 + 10 2958 c.2459A>G c.(2458-2460)AAT>AGT p.N820S NIPBL_uc003jkk.3_Missense_Mutation_p.N820S|NIPBL_uc003jkm.1_Missense_Mutation_p.N699S NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 820 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GACCATGATAATAAACAAAAA 0.438 NA 6 129 0 0 0 0 DAB2 1601 broad.mit.edu 37 5 39392478 39392478 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:39392478C>T uc003jlx.2 - 4 850 c.319G>A c.(319-321)GAG>AAG p.E107K DAB2_uc003jlw.2_Missense_Mutation_p.E107K NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 107 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) CCAGTTTTCTCATCAATTATT 0.463 NA 21 118 0 0 0 0 PDE4D 5144 broad.mit.edu 37 5 58285677 58285677 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:58285677C>T uc003jsa.2 - 10 1529 c.1357G>A c.(1357-1359)GAC>AAC p.D453N PDE4D_uc003jrx.2_Missense_Mutation_p.D317N|PDE4D_uc003jry.2_Missense_Mutation_p.D151N|PDE4D_uc003jrz.2_Missense_Mutation_p.D389N|PDE4D_uc003jsb.2_Missense_Mutation_p.D392N|PDE4D_uc003jrt.2_Missense_Mutation_p.D151N|PDE4D_uc003jru.2_Missense_Mutation_p.D229N|PDE4D_uc003jrv.2_Missense_Mutation_p.D323N|PDE4D_uc003jrw.2_Missense_Mutation_p.D331N|PDE4D_uc003jrs.2_Missense_Mutation_p.D162N NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 453 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TGGTAATGGTCTTCGAGAGTC 0.343 NA 17 72 0 0 0 0 MEF2C 4208 broad.mit.edu 37 5 88018491 88018491 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:88018491C>T uc003kjj.2 - 11 2025 c.1352G>A c.(1351-1353)AGA>AAA p.R451K MEF2C_uc003kji.2_Missense_Mutation_p.R443K|MEF2C_uc003kjk.2_Missense_Mutation_p.R451K|MEF2C_uc003kjm.2_Missense_Mutation_p.R441K|MEF2C_uc003kjl.2_Missense_Mutation_p.R461K NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 451 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CGGCGAAGGTCTGGTGAGTCC 0.498 NA HNSCC(66;0.2) 66 251 0 0 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783452 115783452 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:115783452G>A uc010jck.2 - 19 2659 c.1950C>T c.(1948-1950)CTC>CTT p.L650L SEMA6A_uc003krx.3_Silent_p.L667L|SEMA6A_uc011cwe.1_Silent_p.L29L|SEMA6A_uc003krv.3_Silent_p.L77L|SEMA6A_uc003krw.3_Silent_p.L127L|SEMA6A_uc010jcj.2_Silent_p.L194L NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 650 Helical; (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CAATGGCCAAGAGGGTGACGG 0.552 NA 5 29 0 0 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862009 128862009 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:128862009G>A uc003kvb.1 + 4 928 c.928G>A c.(928-930)GAA>AAA p.E310K ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 310 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAAAATAGCAGAAAGTGGAAG 0.358 NA 18 57 0 0 0 0 HSPA4 3308 broad.mit.edu 37 5 132400683 132400683 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:132400683C>G uc003kyj.2 + 2 400 c.119C>G c.(118-120)TCT>TGT p.S40C NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 40 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTTGCATTTCTTTTGGTCCT 0.323 NA 33 161 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140165886 140165886 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:140165886C>A uc003lhb.2 + 1 11 c.11C>A c.(10-12)TCT>TAT p.S4Y PCDHA1_uc003lha.2_Missense_Mutation_p.S4Y|PCDHA1_uc003lgz.2_Missense_Mutation_p.S4Y NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 4 homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGTGTTTTCTAGGAGAGGG 0.502 NA 47 225 2.76e-25 3.1e-25 1 0 PCDH12 51294 broad.mit.edu 37 5 141336011 141336011 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:141336011G>A uc003llx.2 - 1 2617 c.1406C>T c.(1405-1407)ACG>ATG p.T469M NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 469 Extracellular (Potential).|Cadherin 5. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTCCCGCGTGGAGACTTC 0.478 NA 35 143 0 0 0 0 SH3RF2 153769 broad.mit.edu 37 5 145379752 145379752 + Silent SNP C C T rs137960488 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:145379752C>T uc003lnt.2 + 3 748 c.510C>T c.(508-510)ATC>ATT p.I170I SH3RF2_uc011dbl.1_Silent_p.I170I NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 170 SH3 1. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAATGGCATCAGCGGGAACT 0.567 NA 19 81 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161524718 161524718 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:161524718C>T uc003lyz.3 + 4 760 c.402C>T c.(400-402)GTC>GTT p.V134V GABRG2_uc010jjc.2_Silent_p.V134V|GABRG2_uc003lyy.3_Silent_p.V134V|GABRG2_uc011dej.1_Silent_p.V39V NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 134 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCATTAAAGTCCTCCGATTGA 0.378 NA 30 128 0 0 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948610 2948610 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:2948610G>A uc003muk.2 - 6 3048 c.1053C>T c.(1051-1053)GCC>GCT p.A351A SERPINB6_uc003mui.2_Silent_p.A234A|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Silent_p.A351A|SERPINB6_uc003mum.2_Silent_p.A351A|SERPINB6_uc003mun.2_Silent_p.A351A|SERPINB6_uc003muo.2_Silent_p.A351A NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 351 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGGGGTGGTCGGCGCAGAAGC 0.587 NA 13 58 0 0 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114238 27114238 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:27114238C>T uc003nix.1 - 1 382 c.340G>A c.(340-342)GAG>AAG p.E114K HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 114 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 TTGGTGCCCTCGGACACGGCG 0.582 NA 28 125 0 0 0 0 GABBR1 2550 broad.mit.edu 37 6 29591083 29591083 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:29591083G>A uc003nmt.3 - 8 1298 c.962C>T c.(961-963)TCG>TTG p.S321L GABBR1_uc003nmp.3_Missense_Mutation_p.S204L|GABBR1_uc003nms.3_Missense_Mutation_p.S204L|GABBR1_uc003nmu.3_Missense_Mutation_p.S259L|GABBR1_uc011dlr.1_Missense_Mutation_p.S144L|GABBR1_uc011dls.1_Missense_Mutation_p.S321L NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 321 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) CCTCCTCACCGAAGTGAAGAC 0.517 NA 13 50 0 0 0 0 MDFI 4188 broad.mit.edu 37 6 41621181 41621181 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:41621181C>T uc003oqp.3 + 6 938 c.609C>T c.(607-609)TGC>TGT p.C203C MDFI_uc003oqq.3_Silent_p.C203C|MDFI_uc010jxn.2_Silent_p.C203C NM_005586 NP_005577 Q99750 MDFI_HUMAN MyoD family inhibitor 203 Cys-rich. cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus 0 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) GCTGCTGCTGCTGTGGCTCTG 0.657 NA 3 105 0 0 0 0 FRS3 10817 broad.mit.edu 37 6 41738550 41738550 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:41738550C>T uc003orc.1 - 7 1530 c.1286G>A c.(1285-1287)CGC>CAC p.R429H NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 429 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCCCTTAGGGCGGTCTCCACC 0.637 NA 6 74 0 0 0 0 GPR111 222611 broad.mit.edu 37 6 47649665 47649665 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:47649665C>G uc010jzj.1 + 6 1371 c.1370C>G c.(1369-1371)TCT>TGT p.S457C GPR111_uc010jzk.1_Missense_Mutation_p.S389C|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 457 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CTGGGCATTTCTATTTGCAGC 0.428 NA 60 187 0 0 0 0 TBX18 9096 broad.mit.edu 37 6 85469990 85469990 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:85469990C>G uc003pkl.1 - 3 582 c.582G>C c.(580-582)GTG>GTC p.V194V TBX18_uc010kbq.1_Silent_p.V36V NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 194 T-box. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TTTTGTTGTCCACTGGTACAA 0.388 NA 11 69 0 0 0 0 MCM9 254394 broad.mit.edu 37 6 119245170 119245170 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:119245170G>A uc003pyh.2 - 3 690 c.427C>T c.(427-429)CGG>TGG p.R143W NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 143 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) ATGTAATCCCGCTCAAACTCC 0.468 NA 5 350 0 0 0 0 KIAA1244 57221 broad.mit.edu 37 6 138576900 138576900 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:138576900G>A uc003qhu.2 + 10 1098 c.1098G>A c.(1096-1098)ATG>ATA p.M366I NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 366 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCAAAATAATGAAAGAGGTGA 0.572 NA 5 8 0 0 0 0 TTLL2 83887 broad.mit.edu 37 6 167754382 167754382 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:167754382C>T uc003qvs.1 + 3 1082 c.994C>T c.(994-996)CGT>TGT p.R332C TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 332 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTCCTACCTTCGTAGCTGGGA 0.463 NA 81 256 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4169596 4169596 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:4169596G>A uc003smx.2 + 27 4135 c.3996G>A c.(3994-3996)GGG>GGA p.G1332G SDK1_uc010kso.2_Silent_p.G608G|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1332 Fibronectin type-III 7. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCGTGCGAGGGAACCACACGC 0.652 NA 25 72 0 0 0 0 MPP6 51678 broad.mit.edu 37 7 24727123 24727123 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:24727123G>A uc003swx.2 + 13 1812 c.1513G>A c.(1513-1515)GAT>AAT p.D505N MPP6_uc003swy.2_Missense_Mutation_p.D505N|MPP6_uc010kur.2_Missense_Mutation_p.D173N NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 505 Guanylate kinase-like. protein complex assembly protein binding 0 CCACTATTTTGATTTGATCAT 0.378 NA 46 186 0 0 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26232925 26232925 + Missense_Mutation SNP T T C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:26232925T>C uc003sxr.3 - 10 1162 c.946A>G c.(946-948)ATG>GTG p.M316V HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.M304V NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 316 Gly-rich.|Nuclear targeting sequence (By similarity). RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCACTCTTCATTGGACCGTAG 0.343 NA T ETV1 prostate 4 176 0 0 0 0 CBX3 11335 broad.mit.edu 37 7 26251377 26251377 + Splice_Site SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:26251377G>C uc003sxt.2 + 5 536 c.425_splice c.e5+1 p.W142_splice CBX3_uc003sxu.2_Splice_Site_p.W142_splice|CBX3_uc003sxv.2_Splice_Site NM_007276 NP_009207 Q13185 CBX3_HUMAN chromobox homolog 3 chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding ovary(1) 1 TCATGAAATGGTGAGTATGCA 0.368 NA 21 62 0 0 0 0 SFRP4 6424 broad.mit.edu 37 7 37955829 37955829 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:37955829G>T uc003tfo.3 - 1 697 c.311C>A c.(310-312)GCG>GAG p.A104E NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 104 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 GTCGTCGCGCGCGCGTTGGCA 0.627 NA 17 46 6.94e-10 7.61e-10 1 0 ADCY1 107 broad.mit.edu 37 7 45753466 45753466 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:45753466G>T uc003tne.3 + 20 3250 c.3232G>T c.(3232-3234)GGG>TGG p.G1078W NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 1078 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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GTGTCCATTTGGGAGAGCTGG 0.602 NA 30 111 1.75e-11 1.92e-11 1 0 NAA38 51691 broad.mit.edu 37 7 117828389 117828389 + Nonsense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:117828389C>T uc003vjg.2 + 3 322 c.130C>T c.(130-132)CGA>TGA p.R44* NM_016200 NP_057284 O95777 NAA38_HUMAN U6 snRNA-associated Sm-like protein LSm8 44 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding 0 AAGCCATGAACGAGTATTCAG 0.338 NA 41 138 0 0 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216705 134216705 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:134216705G>C uc003vrr.2 + 3 600 c.280G>C c.(280-282)GAG>CAG p.E94Q NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 94 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 GAAAGCCTTTGAGAAGACCCT 0.468 NA 40 150 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141765212 141765212 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:141765212G>C uc003vwy.2 + 38 4616 c.4562G>C c.(4561-4563)GGA>GCA p.G1521A NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1521 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGCTGGGCAGGACATTGGCTG 0.622 NA 4 11 0 0 0 0 C7orf29 113763 broad.mit.edu 37 7 150028028 150028028 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:150028028G>A uc003wgy.2 + 1 1091 c.535G>A c.(535-537)GAG>AAG p.E179K LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN hypothetical protein LOC113763 179 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) GCTGGCCTCTGAGAGAAGCGG 0.627 NA 7 54 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154679393 154679393 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:154679393G>A uc003wlk.2 + 23 2382 c.2253G>A c.(2251-2253)GCG>GCA p.A751A DPP6_uc003wli.2_Silent_p.A687A|DPP6_uc003wlm.2_Silent_p.A689A|DPP6_uc011kvq.1_Silent_p.A644A NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 751 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAGCCTCTGCGTTTTCCGAGA 0.592 NA 69 241 0 0 0 0 TM7SF4 81501 broad.mit.edu 37 8 105367308 105367308 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:105367308C>T uc003ylx.1 + 3 1282 c.1233C>T c.(1231-1233)AGC>AGT p.S411S NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 411 Cytoplasmic. osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCTACCCCAGCGTGGAGAGGA 0.438 NA 36 242 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113599423 113599423 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:113599423G>A uc003ynu.2 - 23 3916 c.3757C>T c.(3757-3759)CTG>TTG p.L1253L CSMD3_uc003yns.2_Silent_p.L525L|CSMD3_uc003ynt.2_Silent_p.L1213L|CSMD3_uc011lhx.1_Silent_p.L1149L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1253 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTGGAGACAGCAAAATTCCT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 222 0 0 0 0 TRPS1 7227 broad.mit.edu 37 8 116599315 116599315 + Silent SNP A A C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:116599315A>C uc003ynz.2 - 4 3033 c.2574T>G c.(2572-2574)GCT>GCG p.A858A TRPS1_uc011lhy.1_Silent_p.A862A|TRPS1_uc003yny.2_Silent_p.A871A|TRPS1_uc010mcy.2_Silent_p.A858A NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 858 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCTCTCCGCCAGCTGGCGCCC 0.577 NA Langer-Giedion_syndrome 4 141 0 0 0 0 HAS2 3037 broad.mit.edu 37 8 122641162 122641162 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:122641162C>T uc003yph.2 - 2 957 c.419G>A c.(418-420)AGA>AAA p.R140K NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 140 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGATTTGTCTCTGCCCATGAC 0.443 NA 86 434 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 124975615 124975615 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:124975615C>T uc003yqw.2 + 3 380 c.174C>T c.(172-174)GTC>GTT p.V58V NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 58 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTTTCCTGTCCCCTCAGCTT 0.368 NA 111 123 0 0 0 0 HSF1 3297 broad.mit.edu 37 8 145533469 145533469 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:145533469G>A uc003zbt.3 + 4 545 c.375G>A c.(373-375)CTG>CTA p.L125L HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 125 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TGTCCACCCTGAAGAGTGAAG 0.597 NA 18 117 0 0 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920675 5920675 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:5920675G>C uc003zjq.3 - 8 5537 c.5321C>G c.(5320-5322)TCT>TGT p.S1774C KIAA2026_uc010mht.2_Missense_Mutation_p.S949C NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1774 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AATAGATACAGAACGTGTGGC 0.423 NA 4 467 0 0 0 0 SH3GL2 6456 broad.mit.edu 37 9 17791298 17791298 + Missense_Mutation SNP A A T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:17791298A>T uc003zna.2 + 7 982 c.694A>T c.(694-696)ATC>TTC p.I232F SH3GL2_uc011lmy.1_Missense_Mutation_p.I185F NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 232 BAR.|Potential. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GGCAGTCCAGATCCTGCAGCA 0.433 NA 34 131 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 12 0 0 0 0 C9orf11 54586 broad.mit.edu 37 9 27286284 27286284 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:27286284G>C uc003zql.2 - 7 642 c.558C>G c.(556-558)ATC>ATG p.I186M C9orf11_uc011lnq.1_Missense_Mutation_p.I157M NM_020641 NP_065692 Q9NQ60 AFAF_HUMAN Acr formation associated factor isoform 1 186 Helical; (Potential). acrosomal membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106) TCATCAACGAGATTCCCAGCA 0.458 NA 7 20 0 0 0 0 LINGO2 158038 broad.mit.edu 37 9 27949543 27949543 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:27949543C>A uc003zqu.1 - 2 1321 c.1127G>T c.(1126-1128)GGT>GTT p.G376V LINGO2_uc010mjf.1_Missense_Mutation_p.G376V|LINGO2_uc003zqv.1_Missense_Mutation_p.G376V NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 376 LRRCT.|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) TTGCTGGCCACCAAACTGCAG 0.527 NA 4 66 0.00024832 0.000261054 1 0 DBC1 1620 broad.mit.edu 37 9 121930223 121930223 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:121930223G>A uc004bkc.2 - 8 1881 c.1425C>T c.(1423-1425)ATC>ATT p.I475I NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 475 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TCTCAAAGCTGATGAACTGCT 0.572 NA 16 53 0 0 0 0 GSN 2934 broad.mit.edu 37 9 124072998 124072998 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:124072998C>T uc004blf.1 + 4 602 c.541C>T c.(541-543)CCC>TCC p.P181S GSN_uc004bld.1_Missense_Mutation_p.P130S|GSN_uc010mvq.1_Missense_Mutation_p.P141S|GSN_uc010mvr.1_Missense_Mutation_p.P141S|GSN_uc010mvu.1_Missense_Mutation_p.P130S|GSN_uc010mvt.1_Missense_Mutation_p.P130S|GSN_uc010mvs.1_Missense_Mutation_p.P130S|GSN_uc004ble.1_Missense_Mutation_p.P130S|GSN_uc010mvv.1_Missense_Mutation_p.P130S|GSN_uc011lyh.1_Missense_Mutation_p.P147S|GSN_uc011lyi.1_Missense_Mutation_p.P130S|GSN_uc011lyj.1_Missense_Mutation_p.P154S|GSN_uc004blg.1_5'Flank NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 181 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 GCACGTGGTACCCAACGAGGT 0.577 NA 18 74 0 0 0 0 GOLGA1 2800 broad.mit.edu 37 9 127684082 127684082 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:127684082C>T uc004bpc.2 - 9 993 c.651G>A c.(649-651)ATG>ATA p.M217I GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.M192I NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 217 Potential. Golgi cisterna membrane ovary(1) 1 GATTGGAGTTCATCAACTCCT 0.438 NA 54 213 0 0 0 0 NUP188 23511 broad.mit.edu 37 9 131745261 131745261 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:131745261G>C uc004bws.1 + 17 1772 c.1750G>C c.(1750-1752)GAC>CAC p.D584H NUP188_uc004bwu.2_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 584 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GTCGATAGCAGACTGTCTCCT 0.522 NA 50 186 0 0 0 0 MED14 9282 broad.mit.edu 37 X 40522377 40522377 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chrX:40522377G>A uc004dex.3 - 26 3624 c.3484C>T c.(3484-3486)CGT>TGT p.R1162C MED14_uc004dey.1_Missense_Mutation_p.R64C NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 1162 Pro-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 GGTAGTTTACGAGGTGGAGGC 0.453 NA 10 10 0 0 0 0 GDPD2 54857 broad.mit.edu 37 X 69649354 69649354 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chrX:69649354C>T uc004dyh.2 + 11 1199 c.948C>T c.(946-948)TTC>TTT p.F316F GDPD2_uc010nkx.1_3'UTR|GDPD2_uc010nky.1_Silent_p.F102F|GDPD2_uc011mpk.1_Silent_p.F316F|GDPD2_uc011mpl.1_Silent_p.F237F|GDPD2_uc011mpm.1_Silent_p.F237F NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 316 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) GGCGACCCTTCTGGGGGGCCA 0.522 NA 12 16 0 0 0 0 DRP2 1821 broad.mit.edu 37 X 100511136 100511136 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chrX:100511136C>G uc004egz.2 + 21 2645 c.2276C>G c.(2275-2277)TCC>TGC p.S759C DRP2_uc011mrh.1_Missense_Mutation_p.S681C NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 759 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 CTGCGGCACTCCAGCCCCATC 0.572 NA 26 58 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215848871 215848872 + Frame_Shift_Del DEL AG AG - TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:215848871_215848872delAG uc001hku.1 - 63 12768_12769 c.12381_12382delCT c.(12379-12384)CTCTACfs p.L4127fs NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4127_4128 Fibronectin type-III 26.|Extracellular (Potential). 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) GTCAGTGTGTAGAGAGTGAAAG 0.559 NA HNSCC(13;0.011) 15 41 --- --- --- --- NA NA NA NA ZNF319 57567 broad.mit.edu 37 16 58031982 58031982 + Frame_Shift_Del DEL G G - TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:58031982delG uc002emx.1 - 2 811 c.188delC c.(187-189)CCAfs p.P63fs NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 63 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCGTGTTGTGGGGGCTGCAG 0.687 NA 20 62 --- --- --- --- NA NA NA NA BIRC6 57448 broad.mit.edu 37 2 32641134 32641153 + Frame_Shift_Del DEL AGTGGAGCCTCCCAAAAAGG AGTGGAGCCTCCCAAAAAGG - TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:32641134_32641153delAGTGGAGCCTCCCAAAAAGG uc010ezu.2 + 10 2909_2928 c.2775_2794delAGTGGAGCCTCCCAAAAAGG c.(2773-2796)AAAGTGGAGCCTCCCAAAAAGGAGfs p.K925fs NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 925_932 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) TTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGA 0.414 NA 18 140 --- --- --- --- NA NA NA NA TCF7 6932 broad.mit.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:133473764_133473765insC uc003kyt.2 + 4 652_653 c.456_457insC c.(454-459)CAGCCCfs p.Q152fs TCF7_uc003kyu.1_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyv.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyw.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyx.2_5'UTR|TCF7_uc003kyy.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyz.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kza.2_Frame_Shift_Ins_p.Q37fs NM_003202 NP_003193 P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, 152_153 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding 0 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACGG 0.574 NA 14 113 --- --- --- --- NA NA NA NA