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 LIN28A 79727 broad.mit.edu 37 1 26752814 26752814 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:26752814G>C uc001bmj.2 + 4 609 c.495G>C c.(493-495)CAG>CAC p.Q165H LIN28A_uc001bmi.1_RNA NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN lin-28 homolog 165 CCHC-type 2. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1) 1 ACTTCTGCCAGAGCATCAGCC 0.532 NA 9 54 0 0 0 0 COL9A2 1298 broad.mit.edu 37 1 40771397 40771397 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:40771397G>A uc001cfh.1 - 21 1167 c.1097C>T c.(1096-1098)CCT>CTT p.P366L COL9A2_uc001cfi.1_Missense_Mutation_p.P185L NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 366 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CTCTTTCCCAGGGGGACCAGA 0.557 NA 11 43 0 0 0 0 IL12RB2 3595 broad.mit.edu 37 1 67861599 67861599 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:67861599G>A uc001ddu.2 + 16 3056 c.2416G>A c.(2416-2418)GAT>AAT p.D806N IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.D720N|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 806 Cytoplasmic (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 CTCCAACATAGATGACCTCCC 0.577 NA 62 175 0 0 0 0 ZNF644 84146 broad.mit.edu 37 1 91403926 91403926 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:91403926G>A uc001dnw.2 - 3 3127 c.2985C>T c.(2983-2985)GCC>GCT p.A995A ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.A995A NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 995 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CAACATGACGGGCTTCATAGC 0.428 NA 17 56 0 0 0 0 ZNF644 84146 broad.mit.edu 37 1 91405606 91405606 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:91405606C>T uc001dnw.2 - 3 1447 c.1305G>A c.(1303-1305)GGG>GGA p.G435G ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.G435G NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AGTGACTATTCCCATCTAAAT 0.413 NA 20 56 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 97770874 97770874 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:97770874T>A uc001drv.2 - 18 2377 c.2240A>T c.(2239-2241)GAT>GTT p.D747V NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 747 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGGTGTGCCATCAGATTTTAA 0.478 NA 23 66 0 0 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294748 110294748 + Nonsense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:110294748G>A uc001dyr.1 - 15 1448 c.1303C>T c.(1303-1305)CAG>TAG p.Q435* EPS8L3_uc001dys.1_Intron|EPS8L3_uc001dyq.1_Nonsense_Mutation_p.Q436*|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 435 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TCCCCAGGCTGAGGGTCATGG 0.562 NA 36 133 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120539638 120539638 + Nonsense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:120539638C>A uc001eik.2 - 4 989 c.733G>T c.(733-735)GAG>TAG p.E245* NOTCH2_uc001eil.2_Nonsense_Mutation_p.E245*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.E162* NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 245 EGF-like 6.|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTTGCACTCAAAAGTGAAG 0.547 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 7 31 0.000157383 0.000267598 1 0 ACP6 51205 broad.mit.edu 37 1 147131783 147131783 + Silent SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:147131783T>C uc001epr.2 - 2 791 c.327A>G c.(325-327)CAA>CAG p.Q109Q ACP6_uc009wjj.1_Intron NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 109 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) TCTCATGGTATTGAGAGTCGT 0.517 NA 12 89 0 0 0 0 ANP32E 81611 broad.mit.edu 37 1 150199019 150199019 + Missense_Mutation SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:150199019T>C uc001etw.2 - 5 972 c.602A>G c.(601-603)GAT>GGT p.D201G ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.D153G|ANP32E_uc010pbv.1_Missense_Mutation_p.D160G|ANP32E_uc001etv.3_Missense_Mutation_p.D201G|ANP32E_uc010pbw.1_Missense_Mutation_p.M146V NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 201 Asp/Glu-rich (highly acidic). cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ttcatcttcatcttcatcctc 0.308 NA 29 65 0 0 0 0 OR10J1 26476 broad.mit.edu 37 1 159410091 159410091 + Silent SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:159410091T>C uc010piv.1 + 1 543 c.543T>C c.(541-543)GCT>GCC p.A181A uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 181 Extracellular (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) CCTTCTGTGCTAGAAAGGTGC 0.493 NA 64 154 0 0 0 0 PVRL4 81607 broad.mit.edu 37 1 161047483 161047483 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:161047483C>A uc001fxo.2 - 3 789 c.490G>T c.(490-492)GGC>TGC p.G164C PVRL4_uc010pjz.1_5'Flank NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 164 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGGGTCAGGCCCTGGCCCTCT 0.627 NA 12 57 6.4e-05 0.000109821 1 0 KLHDC9 126823 broad.mit.edu 37 1 161069390 161069390 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:161069390G>A uc001fxr.2 + 3 862 c.690G>A c.(688-690)GAG>GAA p.E230E KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.G237R NM_152366 NP_689579 Q8NEP7 KLDC9_HUMAN kelch/ankyrin repeat containing cyclin A1 230 0 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TCCCCAAGGAGGAACCACCTG 0.512 NA 293 246 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197070918 197070918 + Missense_Mutation SNP T T G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:197070918T>G uc001gtu.2 - 18 7720 c.7463A>C c.(7462-7464)CAG>CCG p.Q2488P ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q336P NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2488 IQ 26. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GAAAGTAGCCTGAATGAGAAC 0.363 NA 15 112 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200944027 200944027 + Silent SNP C C T rs140999969 TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:200944027C>T uc001gvs.1 - 34 4946 c.4629G>A c.(4627-4629)GCG>GCA p.A1543A KIF21B_uc001gvr.1_Silent_p.A1530A|KIF21B_uc009wzl.1_Silent_p.A1543A|KIF21B_uc010ppn.1_Silent_p.A1530A NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1543 WD 6. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 AGTCCTTGTGCGCATTGGGGA 0.642 NA 16 131 0 0 0 0 CNTN2 6900 broad.mit.edu 37 1 205034931 205034931 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:205034931G>A uc001hbr.2 + 14 1979 c.1710G>A c.(1708-1710)GGG>GGA p.G570G CNTN2_uc001hbq.1_Silent_p.G461G|CNTN2_uc001hbs.2_Silent_p.G358G NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 570 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGACCATTGGGGATCTGACCA 0.642 NA 9 71 0 0 0 0 DSTYK 25778 broad.mit.edu 37 1 205130494 205130494 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:205130494G>A uc001hbw.2 - 7 1904 c.1840C>T c.(1840-1842)CGG>TGG p.R614W DSTYK_uc001hbx.2_Missense_Mutation_p.R614W|DSTYK_uc001hby.1_Missense_Mutation_p.R75W NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 614 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 TTCTCTAACCGGCCTGAGTGG 0.383 NA 26 76 0 0 0 0 DISP1 84976 broad.mit.edu 37 1 223177961 223177961 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:223177961C>T uc001hnu.1 + 8 3369 c.3222C>T c.(3220-3222)TTC>TTT p.F1074F NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1074 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AAGTGATCTTCTCTCTGAGTC 0.587 NA 24 78 0 0 0 0 WNT3A 89780 broad.mit.edu 37 1 228210572 228210572 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:228210572C>T uc001hrq.1 + 2 354 c.276C>T c.(274-276)CAC>CAT p.H92H WNT3A_uc001hrp.1_Silent_p.H92H NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 92 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) CCACCGTCCACGACAGCCTGG 0.652 NA 14 77 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240555811 240555811 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr1:240555811C>A uc010pyd.1 + 15 5084 c.4859C>A c.(4858-4860)GCC>GAC p.A1620D FMN2_uc010pye.1_Missense_Mutation_p.A1624D|FMN2_uc010pyf.1_Missense_Mutation_p.A235D|FMN2_uc010pyg.1_Missense_Mutation_p.A216D NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1620 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCACTTTCAGCCAAAATTGAC 0.328 NA 29 100 1.16e-09 2.05e-09 1 0 GPR158 57512 broad.mit.edu 37 10 25887168 25887168 + Missense_Mutation SNP G G T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr10:25887168G>T uc001isj.2 + 11 2673 c.2613G>T c.(2611-2613)GAG>GAT p.E871D GPR158_uc001isk.2_Missense_Mutation_p.E246D NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 871 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AGTCCACGGAGTCGGTGCCGT 0.498 NA 28 78 5.62e-17 1.01e-16 1 0 DNA2 1763 broad.mit.edu 37 10 70225525 70225525 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr10:70225525G>A uc001jof.2 - 4 744 c.744C>T c.(742-744)CTC>CTT p.L248L DNA2_uc001jog.1_Silent_p.L162L|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 162 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 ACACCTCATGGAGAACCGTAC 0.358 NA 6 25 0 0 0 0 PKD2L1 9033 broad.mit.edu 37 10 102048805 102048805 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr10:102048805T>A uc001kqx.1 - 15 2642 c.2259A>T c.(2257-2259)CAA>CAT p.Q753H BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.Q706H NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 753 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCAAATAGCTTGTTCCTTCT 0.502 NA 27 31 0 0 0 0 TDRD1 56165 broad.mit.edu 37 10 115985910 115985910 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr10:115985910G>A uc001lbg.1 + 22 3263 c.3110G>A c.(3109-3111)AGA>AAA p.R1037K TDRD1_uc001lbf.2_Missense_Mutation_p.R914K|TDRD1_uc001lbh.1_Missense_Mutation_p.R1024K|TDRD1_uc001lbi.1_Missense_Mutation_p.R1028K|TDRD1_uc010qsc.1_Missense_Mutation_p.R641K|TDRD1_uc001lbj.2_Missense_Mutation_p.R746K NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1037 Tudor 4. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CCTCTTTGCAGAGTGCAACCA 0.438 NA 13 44 0 0 0 0 OR51A4 401666 broad.mit.edu 37 11 4967807 4967807 + Missense_Mutation SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:4967807T>C uc010qys.1 - 1 524 c.524A>G c.(523-525)CAA>CGA p.Q175R NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGGATAATTGGTTTTTCTT 0.413 NA 48 73 0 0 0 0 NRIP3 56675 broad.mit.edu 37 11 9009124 9009124 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:9009124G>A uc001mhg.2 - 3 507 c.393C>T c.(391-393)CTC>CTT p.L131L NRIP3_uc010rbu.1_Silent_p.L131L NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 131 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) CCAAAGAGATGAGATTATATA 0.453 NA 18 82 0 0 0 0 TRMT112 51504 broad.mit.edu 37 11 64084793 64084793 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:64084793G>A uc001nzt.2 - 2 158 c.123C>T c.(121-123)TTC>TTT p.F41F PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank NM_016404 NP_057488 Q9UI30 TR112_HUMAN tRNA methyltransferase 11-2 homolog 41 TRM112. peptidyl-glutamine methylation protein complex protein binding|protein methyltransferase activity 0 TACGCGCCACGAAGTTGGGGT 0.632 NA 35 44 0 0 0 0 P2RY2 5029 broad.mit.edu 37 11 72946234 72946234 + Missense_Mutation SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:72946234A>G uc001otj.2 + 3 1363 c.1030A>G c.(1030-1032)ACT>GCT p.T344A P2RY2_uc001otk.2_Missense_Mutation_p.T344A|P2RY2_uc001otl.2_Missense_Mutation_p.T344A NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 344 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) ATCCGACAGAACTGACATGCA 0.632 NA 18 153 0 0 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035195 110035195 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:110035195G>A uc009yxw.2 + 6 1436 c.1385G>A c.(1384-1386)GGA>GAA p.G462E ZC3H12C_uc010rwc.1_Missense_Mutation_p.G463E|ZC3H12C_uc010rwd.1_Missense_Mutation_p.G463E|ZC3H12C_uc001pkr.3_Missense_Mutation_p.G431E NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 462 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GCAAACGAAGGAGGACTGGTG 0.493 NA 25 30 0 0 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781799 128781799 + Missense_Mutation SNP C C T rs143790141 TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:128781799C>T uc001qet.2 + 2 945 c.631C>T c.(631-633)CGG>TGG p.R211W KCNJ5_uc009zck.2_Missense_Mutation_p.R211W|KCNJ5_uc001qew.2_Missense_Mutation_p.R211W NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 211 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CATCTCCATGCGGGACGAGAA 0.587 NA 18 65 0 0 0 0 APLP2 334 broad.mit.edu 37 11 129979472 129979472 + Missense_Mutation SNP A A T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr11:129979472A>T uc010sby.1 + 2 411 c.254A>T c.(253-255)GAA>GTA p.E85V APLP2_uc001qfp.2_Missense_Mutation_p.E85V|APLP2_uc001qfq.2_Missense_Mutation_p.E85V|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Missense_Mutation_p.E85V|APLP2_uc001qfv.2_Missense_Mutation_p.E32V NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 85 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) GAAACAAAAGAAGAAGTTCTT 0.403 NA 14 21 0 0 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027520 2027520 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr12:2027520C>A uc001qjp.2 - 1 351 c.120G>T c.(118-120)ATG>ATT p.M40I CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.M40I NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 40 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AGGCCACGGGCATTGGCTGGA 0.657 NA 8 14 5.18e-06 8.94e-06 1 0 LRRK2 120892 broad.mit.edu 37 12 40646775 40646775 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr12:40646775C>T uc001rmg.3 + 11 1366 c.1245C>T c.(1243-1245)TTC>TTT p.F415F LRRK2_uc001rmh.1_Silent_p.F37F NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 415 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGGAAGTTTTCCAGGCATCTG 0.363 NA 13 28 0 0 0 0 APAF1 317 broad.mit.edu 37 12 99060002 99060002 + Missense_Mutation SNP A A T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr12:99060002A>T uc001tfz.2 + 9 1806 c.1229A>T c.(1228-1230)GAA>GTA p.E410V APAF1_uc001tfy.2_Missense_Mutation_p.E399V|APAF1_uc001tga.2_Missense_Mutation_p.E399V|APAF1_uc001tgb.2_Missense_Mutation_p.E410V|APAF1_uc001tgc.2_Intron NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 410 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) GAAACTGAAGAAGTTGAAGAC 0.348 NA 19 68 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28959102 28959102 + Missense_Mutation SNP G G T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr13:28959102G>T uc001usb.3 - 14 2321 c.2036C>A c.(2035-2037)ACT>AAT p.T679N FLT1_uc010aar.1_Missense_Mutation_p.T679N NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 679 Ig-like C2-type 7.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACAGTCTAAAGTGGTGGAACT 0.448 NA 21 82 2.28e-05 3.92e-05 1 0 SLITRK5 26050 broad.mit.edu 37 13 88327768 88327768 + Missense_Mutation SNP A A T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr13:88327768A>T uc001vln.2 + 2 344 c.125A>T c.(124-126)GAT>GTT p.D42V SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 42 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAAACCATCGATTATTATGGG 0.453 NA 23 133 0 0 0 0 OR4M1 441670 broad.mit.edu 37 14 20248700 20248700 + Nonsense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr14:20248700C>G uc010tku.1 + 1 219 c.219C>G c.(217-219)TAC>TAG p.Y73* NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATTTGGTACTCTTCCATTA 0.423 NA 111 356 0 0 0 0 DHRS4 10901 broad.mit.edu 37 14 24438079 24438079 + Nonstop_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr14:24438079G>C uc001wla.2 + 8 869 c.836G>C c.(835-837)TGA>TCA p.*279S DHRS4_uc001wlb.2_Nonstop_Mutation_p.*245S|DHRS4_uc010akz.2_Nonstop_Mutation_p.*200S|DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|uc001wlf.2_5'Flank|DHRS4L2_uc001wlg.3_5'Flank|DHRS4L2_uc001wlh.3_5'Flank NM_021004 NP_066284 Q9BTZ2 DHRS4_HUMAN peroxisomal short-chain alcohol dehydrogenase 279 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TCCCGCCTCTGAGGACCGGGA 0.597 NA 8 19 0 0 0 0 C14orf106 55320 broad.mit.edu 37 14 45679706 45679706 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr14:45679706T>A uc001wwf.2 - 14 3488 c.3029A>T c.(3028-3030)GAT>GTT p.D1010V NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 1010 Poly-Asp. cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 ATCATCATCATCTTCACTGTC 0.363 NA 29 62 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72191487 72191487 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr14:72191487G>A uc001xms.2 + 17 4960 c.4612G>A c.(4612-4614)GAA>AAA p.E1538K SIPA1L1_uc001xmt.2_Missense_Mutation_p.E1517K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E1517K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E1538K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E992K|SIPA1L1_uc001xmw.2_Missense_Mutation_p.E303K NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1538 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GTCCACCATTGAAGAAGATCT 0.478 NA 13 57 0 0 0 0 ESRRB 2103 broad.mit.edu 37 14 76948418 76948418 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr14:76948418G>A uc001xsq.1 + 4 641 c.574G>A c.(574-576)GAG>AAG p.E192K ESRRB_uc001xsr.2_Missense_Mutation_p.E192K|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 192 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) GCTGGACTCAGAGAGCAGCCC 0.527 NA 5 59 0 0 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40268785 40268785 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:40268785G>A uc001zkm.1 + 12 2039 c.1989G>A c.(1987-1989)GCG>GCA p.A663A EIF2AK4_uc010bbj.1_Silent_p.A392A NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 663 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGCGGCCGGCGGGACCGGGGA 0.692 NA 8 29 0 0 0 0 PLCB2 5330 broad.mit.edu 37 15 40581116 40581116 + Nonsense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:40581116G>A uc001zld.2 - 32 3659 c.3358C>T c.(3358-3360)CAG>TAG p.Q1120* PLCB2_uc001zlc.2_Nonsense_Mutation_p.Q104*|PLCB2_uc010bbo.2_Nonsense_Mutation_p.Q1116*|PLCB2_uc010ucm.1_Nonsense_Mutation_p.Q1105* NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1120 Potential. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GCCTCCTTCTGGAACTGTGGA 0.632 NA 5 58 0 0 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500135 48500135 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:48500135C>A uc001zwn.3 + 2 435 c.219C>A c.(217-219)TTC>TTA p.F73L SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.F73L|SLC12A1_uc010uex.1_Missense_Mutation_p.F73L NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 73 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATGACAATTTCCTCCAAAGTG 0.428 NA 13 58 2.62e-11 4.66e-11 1 0 PRTG 283659 broad.mit.edu 37 15 55931883 55931883 + Missense_Mutation SNP G G T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:55931883G>T uc002adg.2 - 13 2329 c.2281C>A c.(2281-2283)CCT>ACT p.P761T NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 761 Fibronectin type-III 4. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGGCCAACAGGATTACAGCGG 0.478 NA 16 82 3.33e-07 5.8e-07 1 0 SLTM 79811 broad.mit.edu 37 15 59185178 59185178 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:59185178G>A uc002afp.2 - 14 1904 c.1816C>T c.(1816-1818)CCT>TCT p.P606S SLTM_uc002afn.2_Missense_Mutation_p.P148S|SLTM_uc002afo.2_Missense_Mutation_p.P588S|SLTM_uc002afq.2_Missense_Mutation_p.P175S|SLTM_uc010bgd.2_Missense_Mutation_p.P175S NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 606 Arg/Glu-rich. P -> S (in Ref. 3; AAH14944). apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTTTCAAAAGGCAAGATCTCT 0.368 NA 12 38 0 0 0 0 LARP6 55323 broad.mit.edu 37 15 71124564 71124564 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:71124564T>A uc002ass.2 - 3 1374 c.1303A>T c.(1303-1305)AGG>TGG p.R435W NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 435 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 TGGCGACGCCTCCGGACCCAG 0.612 NA 44 80 0 0 0 0 ISLR 3671 broad.mit.edu 37 15 74467616 74467616 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:74467616C>T uc002axg.1 + 2 699 c.417C>T c.(415-417)CGC>CGT p.R139R ISLR_uc002axh.1_Silent_p.R139R NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 139 LRR 4. cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TCATCCCCCGCGACGCCTTCC 0.612 NA 18 63 0 0 0 0 SPATA8 145946 broad.mit.edu 37 15 97327425 97327425 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr15:97327425C>T uc002bue.2 + 2 342 c.132C>T c.(130-132)TGC>TGT p.C44C uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 44 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CATGTCCCTGCGGCTGGAGGC 0.587 NA 17 96 0 0 0 0 SOX8 30812 broad.mit.edu 37 16 1033825 1033825 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr16:1033825C>T uc002ckn.2 + 2 635 c.520C>T c.(520-522)CGG>TGG p.R174W LMF1_uc002ckk.2_5'Flank|uc002ckm.1_5'Flank NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 174 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) GTACCAGCCACGGCGCAGGAA 0.677 NA 11 40 0 0 0 0 ERN2 10595 broad.mit.edu 37 16 23706682 23706682 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr16:23706682C>T uc002dma.3 - 15 1952 c.1783G>A c.(1783-1785)GTC>ATC p.V595I ERN2_uc010bxp.2_Missense_Mutation_p.V543I NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 547 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGCCGCTTGACAGCCACTGCC 0.582 NA 4 15 0 0 0 0 TOX3 27324 broad.mit.edu 37 16 52473856 52473857 + Missense_Mutation DNP GG GG CT TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr16:52473856_52473857GG>CT uc002egw.2 - 7 1182_1183 c.1011_1012CC>AG c.(1009-1014)GCCCAG>GCAGAG p.Q338E TOX3_uc010vgt.1_Missense_Mutation_p.Q333E|TOX3_uc010vgu.1_Missense_Mutation_p.Q338E NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 338 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 CGGATGGTCTGGGCTTCTGCTG 0.436 NA 13 56 0 0 0 0 MON1B 22879 broad.mit.edu 37 16 77229484 77229484 + Missense_Mutation SNP G G T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr16:77229484G>T uc002fez.2 + 5 1678 c.1348G>T c.(1348-1350)GAC>TAC p.D450Y MON1B_uc010vnf.1_Missense_Mutation_p.D341Y|MON1B_uc010vng.1_Missense_Mutation_p.D304Y|MON1B_uc002ffa.2_Missense_Mutation_p.D330Y NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 450 protein binding 0 GCGGCTGTCGGACCTGTACCA 0.627 NA 7 40 5.49e-09 9.62e-09 1 0 WWOX 51741 broad.mit.edu 37 16 78198111 78198111 + Missense_Mutation SNP T T G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr16:78198111T>G uc002ffk.2 + 5 566 c.441T>G c.(439-441)CAT>CAG p.H147Q WWOX_uc010vnk.1_Missense_Mutation_p.H34Q|WWOX_uc002ffl.2_Missense_Mutation_p.H147Q|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.H147Q NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 147 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TTGCCCTCCATGGTGCACATG 0.443 NA 15 34 0 0 0 0 TUBB3 10381 broad.mit.edu 37 16 89986186 89986186 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr16:89986186G>A uc002fpf.2 + 1 928 c.520G>A c.(520-522)GTC>ATC p.V174I MC1R_uc002fpe.3_Missense_Mutation_p.V174I|TUBB3_uc010ciz.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 Error:Variant_position_missing_in_Q13509_after_alignment 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGCCAGTGTCGTCTTCAGCAC 0.632 NA 12 58 0 0 0 0 CYB5D2 124936 broad.mit.edu 37 17 4053285 4053285 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:4053285C>T uc002fxm.3 + 2 939 c.351C>T c.(349-351)CAC>CAT p.H117H CYB5D2_uc010cko.2_Silent_p.H5H|CYB5D2_uc002fxl.3_Silent_p.H5H NM_144611 NP_653212 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 117 Cytochrome b5 heme-binding. nervous system development extracellular region heme binding large_intestine(2)|ovary(1) 3 TGACACTTCACAATTGGCTTT 0.493 NA 32 36 0 0 0 0 NLGN2 57555 broad.mit.edu 37 17 7318427 7318427 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:7318427C>G uc002ggt.1 + 5 1070 c.997C>G c.(997-999)CCC>GCC p.P333A NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 333 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) GCGCCGGAAGCCCTCCCGGGA 0.652 NA 26 36 0 0 0 0 SMCR8 140775 broad.mit.edu 37 17 18219330 18219330 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:18219330C>A uc002gsy.3 + 1 737 c.227C>A c.(226-228)CCC>CAC p.P76H NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 76 central_nervous_system(1) 1 CTGACCATCCCCAATGACACC 0.502 NA 6 166 8.13e-05 0.000139028 1 0 PRPSAP2 5636 broad.mit.edu 37 17 18781170 18781170 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:18781170G>C uc002gup.1 + 6 610 c.399G>C c.(397-399)ATG>ATC p.M133I PRPSAP2_uc002guo.1_Missense_Mutation_p.M47I|PRPSAP2_uc010vyi.1_Missense_Mutation_p.M81I|PRPSAP2_uc010vyj.1_Missense_Mutation_p.M47I|PRPSAP2_uc010vyk.1_Missense_Mutation_p.M121I NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 133 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 TGGCTTCCATGATGTGCAAAG 0.363 NA 21 64 0 0 0 0 SRCIN1 80725 broad.mit.edu 37 17 36734745 36734745 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:36734745G>C uc002hqd.2 - 2 547 c.322C>G c.(322-324)CAG>GAG p.Q108E SRCIN1_uc002hqh.1_Missense_Mutation_p.Q142E NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 CCACTCACCTGCTCTCGCATC 0.701 NA 6 21 0 0 0 0 TNFSF9 8744 broad.mit.edu 37 19 6532808 6532808 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:6532808G>A uc002mfh.2 + 2 317 c.279G>A c.(277-279)GCG>GCA p.A93A NM_003811 NP_003802 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, 93 Extracellular (Potential). apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1) 1 GCATGTTTGCGCAGCTGGTGG 0.577 NA 56 71 0 0 0 0 AP1M1 8907 broad.mit.edu 37 19 16319879 16319879 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:16319879C>T uc002ndu.2 + 5 610 c.437C>T c.(436-438)GCC>GTC p.A146V AP1M1_uc002ndv.2_Missense_Mutation_p.A146V|AP1M1_uc010xpd.1_Missense_Mutation_p.A146V NM_032493 NP_115882 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 146 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(3)|breast(1) 4 GAAACAGGGGCCCCGCGGCCA 0.612 NA 27 49 0 0 0 0 NCAN 1463 broad.mit.edu 37 19 19330033 19330033 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:19330033G>A uc002nlz.2 + 3 482 c.383G>A c.(382-384)GGG>GAG p.G128E NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 128 Ig-like V-type. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CTACTTCTGGGGCCACTGAGG 0.642 NA 9 12 0 0 0 0 ZNF100 163227 broad.mit.edu 37 19 21910770 21910770 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:21910770T>A uc002nqi.2 - 5 543 c.344A>T c.(343-345)CAA>CTA p.Q115L ZNF100_uc002nqh.2_Missense_Mutation_p.Q51L NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCAAAGGTCTTGGGGAAAATG 0.303 NA 7 29 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 5 9 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54401269 54401269 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:54401269C>T uc002qcq.1 + 10 1278 c.996C>T c.(994-996)ACC>ACT p.T332T PRKCG_uc010yef.1_Missense_Mutation_p.P303L|PRKCG_uc010yeg.1_Silent_p.T332T|PRKCG_uc010yeh.1_Silent_p.T219T NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 332 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) cTAGTCCCACCGACCCCAAGC 0.473 NA 11 81 0 0 0 0 NLRP2 55655 broad.mit.edu 37 19 55495011 55495011 + Missense_Mutation SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:55495011A>G uc002qij.2 + 6 2031 c.1945A>G c.(1945-1947)AAC>GAC p.N649D NLRP2_uc010yfp.1_Missense_Mutation_p.N626D|NLRP2_uc010esn.2_Missense_Mutation_p.N625D|NLRP2_uc010eso.2_Missense_Mutation_p.N646D|NLRP2_uc010esp.2_Missense_Mutation_p.N627D NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 649 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCACTGTCGAAACCTGCAGAA 0.483 NA 10 46 0 0 0 0 FIZ1 84922 broad.mit.edu 37 19 56104200 56104200 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:56104200C>T uc002qli.3 - 3 1197 c.1107G>A c.(1105-1107)GCG>GCA p.A369A FIZ1_uc002qlj.3_Silent_p.A369A NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 369 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) AGGCGGCCAGCGCCGCGTACA 0.766 NA 4 7 0 0 0 0 ZNF304 57343 broad.mit.edu 37 19 57868268 57868268 + Missense_Mutation SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr19:57868268A>G uc010ygw.1 + 3 1419 c.1031A>G c.(1030-1032)TAC>TGC p.Y344C ZNF304_uc010etw.2_Missense_Mutation_p.Y391C|ZNF304_uc010etx.2_Missense_Mutation_p.Y302C NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 344 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GGAAAAGCCTACAGCAGAAGC 0.473 NA 16 37 0 0 0 0 CAD 790 broad.mit.edu 37 2 27457394 27457394 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:27457394G>A uc002rji.2 + 23 3789 c.3627G>A c.(3625-3627)CAG>CAA p.Q1209Q CAD_uc010eyw.2_Silent_p.Q1146Q NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1209 CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGGATGACCAGCTGAAAGTTA 0.383 NA 35 158 0 0 0 0 SPRED2 200734 broad.mit.edu 37 2 65541019 65541019 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:65541019C>T uc002sdr.3 - 6 1408 c.873G>A c.(871-873)CAG>CAA p.Q291Q SPRED2_uc010fcw.2_Silent_p.Q288Q NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 291 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 CCCGGGAGGGCTGCGTCTTGA 0.662 NA 21 96 0 0 0 0 AUP1 550 broad.mit.edu 37 2 74755571 74755571 + Silent SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:74755571C>A uc010yrx.1 - 4 867 c.741G>T c.(739-741)CTG>CTT p.L247L DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Silent_p.L190L|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.L99L|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 256 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 TCTGAACTTGCAGGGTAAGAG 0.527 NA 17 44 9.77e-05 0.000166535 1 0 ADRA2B 151 broad.mit.edu 37 2 96780623 96780623 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:96780623G>C uc002svi.2 - 3 1275 c.1275C>G c.(1273-1275)ATC>ATG p.I425M NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 425 Helical; Name=7; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) AGATGGTGTAGATAACAGGGT 0.627 NA 5 30 0 0 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257536 114257536 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:114257536C>G uc002tjw.3 + 1 876 c.703C>G c.(703-705)CTG>GTG p.L235V NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 235 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CCCAGGCCCTCTGCTTGGGGC 0.726 NA 28 113 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179427268 179427268 + Missense_Mutation SNP G G T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:179427268G>T uc010zfg.1 - 275 76111 c.75887C>A c.(75886-75888)CCC>CAC p.P25296H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18991H|TTN_uc010zfi.1_Missense_Mutation_p.P18924H|TTN_uc010zfj.1_Missense_Mutation_p.P18799H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26223 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGTGGGAGGGGTGGTTCAGA 0.448 NA 12 55 3.07e-06 5.32e-06 1 0 TTN 7273 broad.mit.edu 37 2 179638736 179638736 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:179638736C>T uc010zfg.1 - 31 7383 c.7159G>A c.(7159-7161)GTC>ATC p.V2387I TTN_uc010zfh.1_Missense_Mutation_p.V2341I|TTN_uc010zfi.1_Missense_Mutation_p.V2341I|TTN_uc010zfj.1_Missense_Mutation_p.V2341I|TTN_uc002unb.2_Missense_Mutation_p.V2387I|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2387 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCATCCAGACGCCTTCCACA 0.463 NA 21 107 0 0 0 0 SF3B1 23451 broad.mit.edu 37 2 198272767 198272767 + Silent SNP T T C rs71422649 byFrequency TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:198272767T>C uc002uue.2 - 9 1242 c.1194A>G c.(1192-1194)CCA>CCG p.P398P NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 398 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CATCAGAAAGTGGGCGATTTC 0.358 NA 12 32 0 0 0 0 TUBA4A 7277 broad.mit.edu 37 2 220116737 220116737 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:220116737C>T uc002vkt.1 - 2 277 c.219G>A c.(217-219)ACG>ACA p.T73T TUBA4A_uc010zkz.1_Silent_p.T58T|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN tubulin, alpha 4a 73 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3) 3 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCAATGACCGTAGGCTCCA 0.527 NA 9 29 0 0 0 0 INHA 3623 broad.mit.edu 37 2 220439871 220439871 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:220439871T>A uc002vmk.1 + 2 868 c.724T>A c.(724-726)TCT>ACT p.S242T NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 242 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity ovary(1) 1 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CTGGCCTTGGTCTCCCTCTGC 0.657 NA 9 38 0 0 0 0 CHRNG 1146 broad.mit.edu 37 2 233406237 233406237 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr2:233406237C>A uc002vsx.1 + 5 525 c.504C>A c.(502-504)TTC>TTA p.F168L CHRNG_uc010fyd.2_Missense_Mutation_p.F168L|CHRNG_uc010fye.1_Intron NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 168 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCCTTATCTTCCAGTGAGGCC 0.582 NA 35 102 6.06e-23 1.1e-22 1 0 TRIB3 57761 broad.mit.edu 37 20 368670 368670 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:368670C>T uc002wdm.2 + 2 522 c.16C>T c.(16-18)CTG>TTG p.L6L TRIB3_uc002wdn.2_Silent_p.L33L NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 6 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) AGCCACCCCTCTGGCTGCTCC 0.498 NA 19 76 0 0 0 0 SNPH 9751 broad.mit.edu 37 20 1285638 1285638 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:1285638T>A uc002wes.2 + 6 661 c.425T>A c.(424-426)ATC>AAC p.I142N SNPH_uc002wet.2_Missense_Mutation_p.I186N NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 142 Potential. synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 CGAAAGGAGATCAAGCAGCTC 0.562 NA 34 94 0 0 0 0 ProSAPiP1 9762 broad.mit.edu 37 20 3146664 3146664 + Missense_Mutation SNP A A C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:3146664A>C uc002wia.1 - 2 2200 c.802T>G c.(802-804)TCG>GCG p.S268A ProSAPiP1_uc002wib.1_Missense_Mutation_p.S268A NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 268 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 TGGTAGCCCGACCCCCCACCG 0.662 NA 7 45 0 0 0 0 CDS2 8760 broad.mit.edu 37 20 5169722 5169722 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:5169722C>T uc002wls.2 + 11 1248 c.991C>T c.(991-993)CGG>TGG p.R331W CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.S282S|CDS2_uc010zqu.1_Missense_Mutation_p.R211W|CDS2_uc002wlv.2_Missense_Mutation_p.R233W|CDS2_uc010zqv.1_Missense_Mutation_p.R101W NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 331 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 GAAAACGGTCCGGATGTACCC 0.383 NA 29 109 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8608996 8608996 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:8608996G>A uc002wnb.2 + 4 305 c.302G>A c.(301-303)CGC>CAC p.R101H PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.R101H|PLCB1_uc002wmz.1_Missense_Mutation_p.R101H|PLCB1_uc002wna.2_Missense_Mutation_p.R101H|PLCB1_uc002wnc.1_5'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 101 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CTGGAGCAGCGCATGATCACA 0.453 NA 31 75 0 0 0 0 FLRT3 23767 broad.mit.edu 37 20 14307545 14307545 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:14307545C>T uc002wov.1 - 3 1075 c.608G>A c.(607-609)CGC>CAC p.R203H MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R203H NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 203 Extracellular (Potential).|LRR 7. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TAGAACCAGGCGTTTTAGACT 0.438 NA 33 64 0 0 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797434 34797434 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr20:34797434G>A uc002xfb.2 + 15 1864 c.1693G>A c.(1693-1695)GAG>AAG p.E565K EPB41L1_uc002xeu.2_Missense_Mutation_p.E491K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E565K|EPB41L1_uc002xev.2_Missense_Mutation_p.E565K|EPB41L1_uc002xew.2_Missense_Mutation_p.E456K|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.E491K|EPB41L1_uc010gfq.2_Missense_Mutation_p.E664K NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 565 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) GGAGGGCTCCGAGGAGAAAGT 0.552 NA 6 32 0 0 0 0 TPST2 8459 broad.mit.edu 37 22 26937214 26937214 + Missense_Mutation SNP A A C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr22:26937214A>C uc003acv.2 - 2 551 c.383T>G c.(382-384)GTG>GGG p.V128G TPST2_uc003acw.2_Missense_Mutation_p.V128G|TPST2_uc003acx.2_Missense_Mutation_p.V128G|TPST2_uc011akf.1_Missense_Mutation_p.V128G NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 128 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 CTCATCCGTCACCCCCGCCTC 0.672 NA 10 10 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41489079 41489079 + Nonsense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr22:41489079C>A uc003azl.3 + 1 466 c.71C>A c.(70-72)TCG>TAG p.S24* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 24 Interaction with ALX1. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CCGGCCCTCTCGGCGTCCGCC 0.542 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 19 105 1.68e-08 2.93e-08 1 0 SHANK3 85358 broad.mit.edu 37 22 51143288 51143288 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr22:51143288G>A uc003bne.1 + 16 1942 c.1942G>A c.(1942-1944)GAG>AAG p.E648K SHANK3_uc003bnf.1_Missense_Mutation_p.E103K NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 648 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CTTCCTCATCGAGGTGAGGTC 0.692 NA 9 47 0 0 0 0 ATP2B2 491 broad.mit.edu 37 3 10417306 10417306 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr3:10417306C>T uc003bvt.2 - 11 1663 c.1224G>A c.(1222-1224)ACG>ACA p.T408T ATP2B2_uc003bvv.2_Silent_p.T363T|ATP2B2_uc003bvw.2_Silent_p.T363T|ATP2B2_uc010hdo.2_Silent_p.T113T NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 408 Helical; (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GGATGATCACCGTGATGGCTG 0.557 NA 14 11 0 0 0 0 ZNF621 285268 broad.mit.edu 37 3 40573572 40573572 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr3:40573572C>G uc003ckm.2 + 5 527 c.311C>G c.(310-312)TCT>TGT p.S104C ZNF621_uc003ckn.2_Missense_Mutation_p.S104C|ZNF621_uc003cko.2_Missense_Mutation_p.S69C|ZNF621_uc011aze.1_Missense_Mutation_p.S96C NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) CAGGAAGCCTCTGAAGAAACA 0.423 NA 18 38 0 0 0 0 ALG1L2 644974 broad.mit.edu 37 3 129813348 129813348 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr3:129813348C>T uc011bld.1 + 5 602 c.416C>T c.(415-417)CCG>CTG p.P139L ALG1L2_uc010hth.2_Intron NM_001136152 NP_001129624 C9J202 AG1L2_HUMAN asparagine-linked glycosylation 1-like 2 139 biosynthetic process transferase activity, transferring glycosyl groups 0 GGACTACCCCCGCTTCTAGGT 0.617 NA 6 20 0 0 0 0 ABCC5 10057 broad.mit.edu 37 3 183681281 183681281 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr3:183681281G>A uc003fmg.2 - 15 2292 c.2127C>T c.(2125-2127)GAC>GAT p.D709D ABCC5_uc011bqt.1_Silent_p.D237D|ABCC5_uc010hxl.2_Silent_p.D709D NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 709 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGAGGGGGTCGTCCAGGATGT 0.547 NA 21 119 0 0 0 0 KIAA1530 57654 broad.mit.edu 37 4 1379683 1379683 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr4:1379683C>T uc003gde.3 + 14 2511 c.2064C>T c.(2062-2064)GCC>GCT p.A688A KIAA1530_uc010ibv.2_Silent_p.A239A NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 688 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) TAGTGGCAGCCATGAACCGGA 0.592 NA 45 42 0 0 0 0 MFSD10 10227 broad.mit.edu 37 4 2932838 2932838 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr4:2932838C>T uc003gfw.2 - 11 1516 c.1202G>A c.(1201-1203)CGC>CAC p.R401H MFSD10_uc003gfv.2_Missense_Mutation_p.R91H|MFSD10_uc003gfx.2_Missense_Mutation_p.R225H|MFSD10_uc003gfz.2_Missense_Mutation_p.R401H|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.A365T|MFSD10_uc003ggb.1_Missense_Mutation_p.R401H|MFSD10_uc003ggc.2_Missense_Mutation_p.A355T NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 401 apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ACCTAGGCTGCGCAGTGTACC 0.706 NA 5 5 0 0 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118005444 118005444 + Missense_Mutation SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr4:118005444G>A uc003ibv.3 - 1 1293 c.1106C>T c.(1105-1107)TCA>TTA p.S369L NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 369 Cytoplasmic (Potential). protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 CAAAGATTATGAAGATTTCTC 0.378 NA 48 62 0 0 0 0 KLKB1 3818 broad.mit.edu 37 4 187175918 187175918 + Splice_Site SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr4:187175918G>A uc003iyy.2 + 12 1560 c.1489_splice c.e12+1 p.E497_splice KLKB1_uc011clc.1_Splice_Site_p.E295_splice|KLKB1_uc011cld.1_Splice_Site_p.E459_splice NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) AATTACACTGGTATGTAGCAT 0.383 NA 8 16 0 0 0 0 F11 2160 broad.mit.edu 37 4 187201215 187201215 + Missense_Mutation SNP A A T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr4:187201215A>T uc003iza.1 + 8 1138 c.805A>T c.(805-807)ATT>TTT p.I269F NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 269 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CAGTACACGCATTAAAAAGAG 0.398 NA 14 41 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16682098 16682098 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr5:16682098C>T uc003jft.3 - 31 4539 c.4071G>A c.(4069-4071)ACG>ACA p.T1357T MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Silent_p.T236T|MYO10_uc011cnd.1_Silent_p.T714T|MYO10_uc011cne.1_Silent_p.T714T|MYO10_uc010itx.2_Silent_p.T979T NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1357 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CCCGGTTGGCCGTGATGATCA 0.582 NA 26 183 0 0 0 0 CDH6 1004 broad.mit.edu 37 5 31305351 31305351 + Missense_Mutation SNP G G T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr5:31305351G>T uc003jhe.1 + 7 1396 c.1070G>T c.(1069-1071)CGA>CTA p.R357L CDH6_uc003jhd.1_Missense_Mutation_p.R357L NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 357 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 GTTGAGCCACGATTTCTCTAC 0.468 NA 46 61 8.21e-20 1.49e-19 1 0 SRP19 6728 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr5:112227939T>C uc011cvv.1 + 4 933 c.678T>C c.(676-678)TCT>TCC p.S226S SRP19_uc011cvu.1_Silent_p.S211S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TCCCAACATCTAGTCCTACCC 0.453 NA 3 117 0 0 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140587 178140587 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr5:178140587G>C uc003mjj.2 - 5 490 c.292C>G c.(292-294)CAA>GAA p.Q98E NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 98 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TCTTGTGTTTGCGTTGACTTT 0.368 NA 37 47 0 0 0 0 ZNF184 7738 broad.mit.edu 37 6 27420986 27420986 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr6:27420986C>T uc003njj.2 - 5 1163 c.352G>A c.(352-354)GAA>AAA p.E118K ZNF184_uc010jqv.2_Missense_Mutation_p.E118K|ZNF184_uc003nji.2_Missense_Mutation_p.E118K NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGCTCTTCTTCAGAAATGTCA 0.378 NA 43 43 0 0 0 0 MOG 4340 broad.mit.edu 37 6 29633938 29633938 + Missense_Mutation SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr6:29633938A>G uc003nnf.2 + 3 624 c.446A>G c.(445-447)TAC>TGC p.Y149C MOG_uc003nmy.1_Missense_Mutation_p.Y149C|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.Y79C|MOG_uc003nna.2_Missense_Mutation_p.Y33C|MOG_uc011dlu.1_Missense_Mutation_p.Y33C|MOG_uc011dlv.1_Missense_Mutation_p.Y33C|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.Y149C|MOG_uc003nng.2_Missense_Mutation_p.Y149C|MOG_uc003nnh.2_Missense_Mutation_p.Y149C|MOG_uc003nni.2_Missense_Mutation_p.Y149C|MOG_uc003nnj.2_Missense_Mutation_p.Y149C|MOG_uc003nnk.2_Missense_Mutation_p.Y149C NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 149 Extracellular (Potential). cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 gatcctttctactgggTGAGC 0.303 NA 52 57 0 0 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32410230 32410230 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr6:32410230C>T uc003obh.2 + 2 169 c.88C>T c.(88-90)CAT>TAT p.H30Y HLA-DRA_uc003obi.2_Missense_Mutation_p.H30Y NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 30 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 TTCAGAAGAACATGTGATCAT 0.433 NA T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of 51 161 0 0 0 0 TAP1 6890 broad.mit.edu 37 6 32816769 32816769 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr6:32816769C>T uc003ocg.2 - 6 1710 c.1555G>A c.(1555-1557)GAG>AAG p.E519K TAP1_uc011dqi.1_Missense_Mutation_p.E258K NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 519 Involved in peptide-binding site.|Helical; Name=10; (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 GACCTCACCTCCACAGCCTGG 0.532 NA 12 29 0 0 0 0 C6orf72 116254 broad.mit.edu 37 6 149893688 149893688 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr6:149893688G>C uc003qmq.1 + 3 253 c.226G>C c.(226-228)GAC>CAC p.D76H C6orf72_uc010kie.1_Intron NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 76 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) GTATGTAAATGACTTACCTGT 0.308 NA 15 39 0 0 0 0 RSPH3 83861 broad.mit.edu 37 6 159401883 159401883 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr6:159401883C>T uc003qrx.2 - 6 1398 c.1208G>A c.(1207-1209)CGT>CAT p.R403H RSPH3_uc010kju.2_Missense_Mutation_p.R307H NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 403 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) AGCCAGGTAACGCTGTGCAAA 0.463 NA 12 40 0 0 0 0 ANLN 54443 broad.mit.edu 37 7 36459871 36459871 + Nonsense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:36459871C>T uc003tff.2 + 11 2167 c.1963C>T c.(1963-1965)CGA>TGA p.R655* ANLN_uc011kaz.1_Nonsense_Mutation_p.R567*|ANLN_uc003tfg.2_Nonsense_Mutation_p.R618*|ANLN_uc010kxe.2_Nonsense_Mutation_p.R617* NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 655 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 TCGTGTCCCTCGAGCTGAATC 0.443 NA 20 156 0 0 0 0 SFRP4 6424 broad.mit.edu 37 7 37956018 37956018 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:37956018C>A uc003tfo.3 - 1 508 c.122G>T c.(121-123)CGG>CTG p.R41L NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 41 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 GTTGGGCATCCGCGTGATGTT 0.692 NA 5 147 0.000602214 0.0010179 1 0 AEBP1 165 broad.mit.edu 37 7 44153489 44153489 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:44153489C>T uc003tkb.2 + 21 3411 c.3106C>T c.(3106-3108)CGG>TGG p.R1036W AEBP1_uc003tkc.3_Missense_Mutation_p.R611W|AEBP1_uc003tkd.2_Missense_Mutation_p.R286W NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 1036 Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GATGCGGCTGCGGCGCCTCAA 0.692 NA 12 38 0 0 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44797689 44797689 + Silent SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:44797689C>G uc003tlr.2 + 6 918 c.795C>G c.(793-795)GTC>GTG p.V265V ZMIZ2_uc003tlq.2_Silent_p.V233V|ZMIZ2_uc003tls.2_Silent_p.V265V|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 265 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 GACAGGGGGTCAAGAGAACCT 0.607 NA 14 72 0 0 0 0 ZNF735 730291 broad.mit.edu 37 7 63680527 63680527 + Silent SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:63680527A>G uc011kdn.1 + 4 1098 c.1098A>G c.(1096-1098)TCA>TCG p.S366S NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 366 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTGCTCCTCAACTGTAAAGG 0.383 NA 4 43 0 0 0 0 AUTS2 26053 broad.mit.edu 37 7 70255917 70255917 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:70255917C>G uc003tvw.3 + 19 4458 c.3715C>G c.(3715-3717)CCT>GCT p.P1239A AUTS2_uc003tvx.3_Missense_Mutation_p.P1215A|AUTS2_uc011keg.1_Missense_Mutation_p.P691A NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1239 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AAGGACGACTCCTCTGTCCGC 0.627 NA 13 36 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100677537 100677537 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:100677537C>G uc003uxp.1 + 3 2893 c.2840C>G c.(2839-2841)ACT>AGT p.T947S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 947 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTTTCAGCAACTCCTGTTGAC 0.507 NA 177 412 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117501264 117501264 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:117501264C>T uc003vjf.2 - 2 280 c.188G>A c.(187-189)CGG>CAG p.R63Q NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 63 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CGTCCTTACCCGCAGGGCCTC 0.483 NA 7 25 0 0 0 0 KCND2 3751 broad.mit.edu 37 7 120386013 120386013 + Silent SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:120386013T>C uc003vjj.1 + 5 2612 c.1647T>C c.(1645-1647)CAT>CAC p.H549H NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 549 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CAGGAAGCCATCAAGGTAGTA 0.448 NA 15 104 0 0 0 0 FEZF1 389549 broad.mit.edu 37 7 121944307 121944307 + Missense_Mutation SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:121944307T>C uc003vkd.2 - 1 259 c.185A>G c.(184-186)AAG>AGG p.K62R FEZF1_uc003vkc.2_Missense_Mutation_p.K62R|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 62 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 CAGAGAGTGCTTGGGTTCCCC 0.627 NA 23 107 0 0 0 0 PRSS1 5644 broad.mit.edu 37 7 142459768 142459768 + Nonsense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr7:142459768C>G uc003wak.2 + 3 361 c.344C>G c.(343-345)TCA>TGA p.S115* uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Nonsense_Mutation_p.S55* NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 115 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AAGCTCTCCTCACGTGCAGTA 0.562 NA Hereditary_Pancreatitis 28 149 0 0 0 0 LYN 4067 broad.mit.edu 37 8 56912010 56912010 + Missense_Mutation SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:56912010A>G uc003xsk.3 + 12 1520 c.1238A>G c.(1237-1239)GAA>GGA p.E413G LYN_uc003xsl.3_Missense_Mutation_p.E392G NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 413 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) ACGGCTCCAGAAGCAATCAAC 0.393 NA 11 88 0 0 0 0 CDH17 1015 broad.mit.edu 37 8 95182707 95182707 + Silent SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:95182707T>C uc003ygh.2 - 9 1109 c.984A>G c.(982-984)GTA>GTG p.V328V CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V328V NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 328 Extracellular (Potential).|Cadherin 3. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTTTAACTTTTACATGAATTT 0.398 NA 22 94 0 0 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936942 119936942 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:119936942C>T uc003yon.3 - 5 1200 c.877G>A c.(877-879)GAG>AAG p.E293K NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 293 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) CGAAGCTGCTCGAAGGTGAGG 0.448 NA 16 111 0 0 0 0 HAS2 3037 broad.mit.edu 37 8 122626402 122626402 + Missense_Mutation SNP T T C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:122626402T>C uc003yph.2 - 4 2144 c.1606A>G c.(1606-1608)AAG>GAG p.K536E NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 536 Extracellular (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) CTGCCACACTTATTGATGAGA 0.423 NA 62 100 0 0 0 0 C8orf76 84933 broad.mit.edu 37 8 124250097 124250097 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:124250097C>T uc003yqc.1 - 3 329 c.298G>A c.(298-300)GCT>ACT p.A100T C8orf76_uc003yqd.2_Missense_Mutation_p.A68T NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 100 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AGACACCGAGCCTGACCTTCC 0.428 NA 40 36 0 0 0 0 ATAD2 29028 broad.mit.edu 37 8 124348766 124348766 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:124348766C>G uc003yqh.3 - 22 3166 c.3058G>C c.(3058-3060)GAT>CAT p.D1020H ATAD2_uc011lii.1_Missense_Mutation_p.D811H|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1020 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTGACATAATCAGGAACCTAA 0.328 NA 16 158 0 0 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145770919 145770919 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr8:145770919C>T uc003zdt.1 - 7 2790 c.2235G>A c.(2233-2235)GAG>GAA p.E745E ARHGAP39_uc011llk.1_Silent_p.E745E|ARHGAP39_uc003zds.1_Silent_p.E745E NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 745 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GCTTGAAGAGCTCGCAGGCCT 0.632 NA 31 51 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37521758 37521758 + Silent SNP G G A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr9:37521758G>A uc004aab.2 - 8 2057 c.2008C>T c.(2008-2010)CTG>TTG p.L670L FBXO10_uc004aac.2_Silent_p.L686L|FBXO10_uc004aad.2_Silent_p.L220L NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 670 PbH1 12. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) ACTCCATACAGGCCATTGTAG 0.572 NA 13 18 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 120176823 120176823 + Missense_Mutation SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr9:120176823C>T uc004bjs.1 - 1 495 c.394G>A c.(394-396)GCG>ACG p.A132T ASTN2_uc004bjr.1_Missense_Mutation_p.A132T|ASTN2_uc004bjt.1_Missense_Mutation_p.A132T NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 132 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TCCTGCACCGCGATGCGCCCC 0.716 NA 13 35 0 0 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595076 129595076 + Silent SNP C C T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr9:129595076C>T uc004bql.2 + 3 561 c.288C>T c.(286-288)CCC>CCT p.P96P ZBTB43_uc010mxf.2_Silent_p.P96P NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 96 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAGTAATGCCCGCTCCAGAAA 0.443 NA 18 44 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135221775 135221775 + Missense_Mutation SNP T T A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr9:135221775T>A uc004cbk.2 - 4 444 c.261A>T c.(259-261)TTA>TTT p.L87F NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 87 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTACTATATATAACTCATCAT 0.338 NA 8 23 0 0 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912862 77912862 + Missense_Mutation SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chrX:77912862C>G uc004edc.1 - 2 1352 c.1056G>C c.(1054-1056)TGG>TGC p.W352C NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 352 nucleic acid binding|zinc ion binding ovary(1) 1 TGCTTTCATCCCAGTTCAGCT 0.478 NA 18 40 0 0 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795518 142795518 + Missense_Mutation SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chrX:142795518C>A uc004fbz.2 - 2 914 c.160G>T c.(160-162)GTG>TTG p.V54L NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 54 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TAGTAATACACTATTATTGTT 0.433 NA 52 88 1.19e-25 2.18e-25 1 0 MLL2 8085 broad.mit.edu 37 12 49423208 49423208 + Frame_Shift_Del DEL G G - TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr12:49423208delG uc001rta.3 - 43 14051 c.14051delC c.(14050-14052)CCTfs p.P4684fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4684 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 CTGATTGTGAGGGGGTGTAGG 0.562 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 2 4 --- --- --- --- NA NA NA NA TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr12:66531936_66531937insA uc001stc.2 - 7 596_597 c.520_521insT c.(520-522)TATfs p.Y174fs LLPH_uc010ssx.1_Intron|TMBIM4_uc001std.2_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc009zqr.2_Frame_Shift_Ins_p.Y221fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.2_Frame_Shift_Ins_p.F158fs NM_016056 NP_057140 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 NA 14 18 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577120 7577137 + In_Frame_Del DEL CGCACCTCAAAGCTGTTC CGCACCTCAAAGCTGTTC - rs28934576 by1000genomes TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC uc002gim.2 - 8 995_1012 c.801_818delGAACAGCTTTGAGGTGCG c.(799-819)CGGAACAGCTTTGAGGTGCGT>CGT p.267_273RNSFEVR>R TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc010cng.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc002gii.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc010cnh.1_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc010cni.1_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc002gij.2_In_Frame_Del_p.267_273RNSFEVR>R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 267_273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(396)|p.R273L(83)|p.V272M(67)|p.R273P(24)|p.V272L(24)|p.F270L(22)|p.E271K(22)|p.R267W(20)|p.F270C(15)|p.E271*(14)|p.R267P(13)|p.R273S(11)|p.R273G(9)|p.F270V(8)|p.V272E(8)|p.F270S(7)|p.R267Q(7)|p.V272A(7)|p.0?(7)|p.E271V(5)|p.R267R(5)|p.F270Y(5)|p.S269C(4)|p.S269N(4)|p.V272G(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.F270I(3)|p.S269G(3)|p.E271Q(3)|p.S269S(3)|p.V272V(3)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.R273fs*33(2)|p.G266_E271delGRNSFE(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.R267L(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.R267G(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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) GGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTA 0.537 R273C(SH10TC_STOMACH)|R273H(NCIH1793_LUNG)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273H(NCIH1975_LUNG)|R273C(SW1710_URINARY_TRACT)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RH30_SOFT_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273C(MFE319_ENDOMETRIUM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273H(HT29_LARGE_INTESTINE)|R273C(SJRH30_SOFT_TISSUE)|R273C(EFO27_OVARY) 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) 7 33 --- --- --- --- NA NA NA NA VAT1 10493 broad.mit.edu 37 17 41174211 41174213 + In_Frame_Del DEL GGC GGC - TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:41174211_41174213delGGC uc002icm.1 - 1 247_249 c.127_129delGCC c.(127-129)GCCdel p.A43del VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_In_Frame_Del_p.A43del NM_006373 NP_006364 Q99536 VAT1_HUMAN vesicle amine transport protein 1 43 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) gtggcggcgaggcggcggcggcg 0.453 NA 2 4 --- --- --- --- NA NA NA NA ERN1 2081 broad.mit.edu 37 17 62207374 62207376 + In_Frame_Del DEL GCC GCC - TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr17:62207374_62207376delGCC uc002jdz.2 - 1 127_129 c.14_16delGGC c.(13-18)CGGCTG>CTG p.R5del NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 5 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 agcagcagcagcCGCCGGGCCGG 0.685 NA 2 4 --- --- --- --- NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21971132 21971133 + Frame_Shift_Ins INS - - G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chr9:21971132_21971133insG uc003zpk.2 - 2 437_438 c.225_226insC c.(223-228)CCCGCCfs p.P75fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Ins_p.R131fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 75_76 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.?(13)|p.P75L(2)|p.A76fs*70(2)|p.P75H(1)|p.E61_L94del(1)|p.A76fs*64(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.P75fs*71(1)|p.A76T(1)|p.P75S(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) GTGAGAGTGGCGGGGTCGGCGC 0.708 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) 13 20 --- --- --- --- NA NA NA NA FRMD7 90167 broad.mit.edu 37 X 131212552 131212553 + Frame_Shift_Ins INS - - A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3f30774f-2b8c-4057-abd1-a9dd1e49ec78 2c4a9e5c-8325-492c-98f2-e9ed96514b8c g.chrX:131212552_131212553insA uc004ewn.2 - 12 1670_1671 c.1492_1493insT c.(1492-1494)TATfs p.Y498fs FRMD7_uc011muy.1_Frame_Shift_Ins_p.Y483fs NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 498 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) CTTGTCCACATAAAAAAAGACC 0.5 NA 32 148 --- --- --- --- NA NA NA NA