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 LRRIQ3 127255 broad.mit.edu 37 1 74507272 74507272 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:74507272A>C uc001dfy.3 - 7 1535 c.1343T>G c.(1342-1344)GTT>GGT p.V448G LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 448 ovary(2) 2 TTCTCGAGCAACTTGTGCCAT 0.318000 LPAR3 23566 broad.mit.edu 37 1 85331706 85331706 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:85331706A>C uc001dkl.2 - 1 137 c.98T>G c.(97-99)GTT>GGT p.V33G LPAR3_uc009wcj.1_Missense_Mutation_p.V33G NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 33 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 AACACACAAAACAATCACAAG 0.378000 AMIGO1 57463 broad.mit.edu 37 1 110051073 110051073 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:110051073G>A uc001dxx.3 - 2 844 c.462C>T c.(460-462)TTC>TTT p.F154F NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN AMIGO protein precursor 154 LRR 4.|Extracellular (Potential). axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane ovary(1)|breast(1) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CCATGTCATCGAAGGCGCACC 0.537000 C1orf161 126868 broad.mit.edu 37 1 116670948 116670948 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:116670948C>T uc001egc.1 + 6 1108 c.843C>T c.(841-843)TCC>TCT p.S281S NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 281 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTATCACGTCCCACCATCTGC 0.587000 MTMR11 10903 broad.mit.edu 37 1 149903153 149903153 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:149903153T>A uc001etl.3 - 13 1540 c.1289A>T c.(1288-1290)GAG>GTG p.E430V SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.E358V|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 430 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CATTCTCACCTCTTCACTGGC 0.498000 ARNT 405 broad.mit.edu 37 1 150786667 150786667 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:150786667C>T uc001evr.1 - 20 2142 c.1999G>A c.(1999-2001)GTG>ATG p.V667M ARNT_uc010pck.1_Missense_Mutation_p.V155M|ARNT_uc001evs.1_Missense_Mutation_p.V652M|ARNT_uc009wmb.1_Missense_Mutation_p.V653M|ARNT_uc009wmc.1_Missense_Mutation_p.V665M|ARNT_uc009wmd.1_Missense_Mutation_p.V651M NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 667 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) AAGCTGCCCACACCAAACTGG 0.527000 T ETV6 AML FLG2 388698 broad.mit.edu 37 1 152327266 152327266 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:152327266T>C uc001ezw.3 - 3 3069 c.2996A>G c.(2995-2997)TAT>TGT p.Y999C uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 999 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTTGGCCATAATTAGACTG 0.488000 IVL 3713 broad.mit.edu 37 1 152882716 152882716 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:152882716A>C uc001fau.2 + 2 489 c.443A>C c.(442-444)AAG>ACG p.K148T NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 148 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGGGAATGAAGAAAGAGCAA 0.299000 NPR1 4881 broad.mit.edu 37 1 153661760 153661760 + Silent SNP G G A rs141781853 TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:153661760G>A uc001fcs.3 + 17 3082 c.2661G>A c.(2659-2661)GCG>GCA p.A887A NPR1_uc010pdz.1_Silent_p.A633A|NPR1_uc010pea.1_Silent_p.A365A NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 887 Guanylate cyclase.|Cytoplasmic (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GTTTCACAGCGCTGTCGGCGG 0.582000 SPTA1 6708 broad.mit.edu 37 1 158654936 158654936 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:158654936A>C uc001fst.1 - 2 425 c.226T>G c.(226-228)TTA>GTA p.L76V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 76 Spectrin 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTATCGGTTAAGATATTGACT 0.284000 IFI16 3428 broad.mit.edu 37 1 159015246 159015246 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:159015246T>G uc010pis.1 + 7 1500 c.1321T>G c.(1321-1323)TTA>GTA p.L441V IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Missense_Mutation_p.L96V NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 497 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) CAGCAGTTTCTTAACCACGGT 0.493000 OR10J5 127385 broad.mit.edu 37 1 159505764 159505764 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:159505764A>C uc010piw.1 - 1 34 c.34T>G c.(34-36)TTC>GTC p.F12V NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) AAGAAAATGAATTCTGACACT 0.368000 VANGL2 57216 broad.mit.edu 37 1 160389129 160389129 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:160389129G>A uc001fwb.1 + 5 829 c.530G>A c.(529-531)CGC>CAC p.R177H VANGL2_uc001fwc.1_Missense_Mutation_p.R177H NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 177 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCGCTGCCCCGCGTCTTTGTG 0.627000 SELP 6403 broad.mit.edu 37 1 169582271 169582271 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:169582271G>A uc001ggi.3 - 5 736 c.671C>T c.(670-672)TCG>TTG p.S224L SELP_uc001ggh.2_Missense_Mutation_p.S59L|SELP_uc009wvr.2_Missense_Mutation_p.S224L NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 224 Extracellular (Potential).|Sushi 1. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GCTGCACTGCGAGTTAAAAGA 0.507000 PTPRC 5788 broad.mit.edu 37 1 198685876 198685876 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:198685876A>C uc001gur.1 + 13 1531 c.1351A>C c.(1351-1353)ACG>CCG p.T451P PTPRC_uc001gus.1_Missense_Mutation_p.T403P|PTPRC_uc001gut.1_Missense_Mutation_p.T290P|PTPRC_uc009wzf.1_Missense_Mutation_p.T339P|PTPRC_uc010ppg.1_Missense_Mutation_p.T387P NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 451 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AAAACCTTATACGAAATATGT 0.313000 NAV1 89796 broad.mit.edu 37 1 201751367 201751367 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:201751367G>A uc001gwu.2 + 6 2074 c.1727G>A c.(1726-1728)CGC>CAC p.R576H NAV1_uc001gwv.1_Missense_Mutation_p.R84H|NAV1_uc001gww.1_Missense_Mutation_p.R185H|NAV1_uc001gwx.2_Missense_Mutation_p.R185H|NAV1_uc001gwy.1_5'UTR NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 576 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GGGCTCCAACGCTCCTCCTCT 0.552000 PPP1R12B 4660 broad.mit.edu 37 1 202407143 202407143 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:202407143C>A uc001gya.1 + 10 1593 c.1449C>A c.(1447-1449)AAC>AAA p.N483K PPP1R12B_uc001gxy.2_Missense_Mutation_p.N483K|PPP1R12B_uc009xad.1_Missense_Mutation_p.N289K|PPP1R12B_uc009xae.1_3'UTR|PPP1R12B_uc001gxz.1_Missense_Mutation_p.N483K NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 483 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) TACTGGACAACAAAGATAAGG 0.438000 PLXNA2 5362 broad.mit.edu 37 1 208257739 208257739 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:208257739A>G uc001hgz.2 - 10 3042 c.2284T>C c.(2284-2286)TGT>CGT p.C762R NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 762 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CTGTTCTGACACTGAACGCTG 0.627000 USH2A 7399 broad.mit.edu 37 1 215914777 215914777 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:215914777T>C uc001hku.1 - 60 12038 c.11651A>G c.(11650-11652)GAG>GGG p.E3884G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3884 Fibronectin type-III 24.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCACTTAATCTCTATGCAAGC 0.378000 HNSCC(13;0.011) ESRRG 2104 broad.mit.edu 37 1 216850642 216850642 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:216850642G>A uc001hkw.1 - 2 414 c.248C>T c.(247-249)CCT>CTT p.P83L ESRRG_uc001hky.1_Missense_Mutation_p.P60L|ESRRG_uc009xdp.1_Missense_Mutation_p.P60L|ESRRG_uc001hkz.1_Missense_Mutation_p.P60L|ESRRG_uc010puc.1_Missense_Mutation_p.P60L|ESRRG_uc001hla.1_Missense_Mutation_p.P60L|ESRRG_uc001hlb.1_Missense_Mutation_p.P60L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.P60L|ESRRG_uc001hld.1_Missense_Mutation_p.P60L|ESRRG_uc001hkx.1_Missense_Mutation_p.P88L|ESRRG_uc009xdo.1_Missense_Mutation_p.P60L|ESRRG_uc001hle.1_Missense_Mutation_p.P60L NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 83 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AGGGTAGAGAGGTGGCGAGTC 0.552000 OR2G3 81469 broad.mit.edu 37 1 247769014 247769014 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:247769014T>G uc010pyz.1 + 1 127 c.127T>G c.(127-129)TTC>GTC p.F43V NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTGGGAAACTTCACCATAAT 0.443000 OR1C1 26188 broad.mit.edu 37 1 247920983 247920983 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:247920983G>A uc010pza.1 - 1 726 c.726C>T c.(724-726)AGC>AGT p.S242S NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACAGGTGGCAGCTGCAGGTGG 0.527000 OR2T6 254879 broad.mit.edu 37 1 248551653 248551653 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:248551653G>A uc001iei.1 + 1 744 c.744G>A c.(742-744)GTG>GTA p.V248V NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGATGGTGGTGACATTGTTCT 0.483000 PDSS1 23590 broad.mit.edu 37 10 26993640 26993640 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:26993640C>A uc001isv.2 + 3 243 c.197C>A c.(196-198)TCT>TAT p.S66Y PDSS1_uc001isw.2_Missense_Mutation_p.S66Y NM_014317 NP_055132 Q5T2R2 DPS1_HUMAN prenyl diphosphate synthase, subunit 1 66 S -> P (in Ref. 1; AAD28559). isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity 0 CATTTAACATCTGCCTGTCCA 0.259000 OR13A1 79290 broad.mit.edu 37 10 45799582 45799582 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:45799582G>A uc001jcc.1 - 4 598 c.289C>T c.(289-291)CCC>TCC p.P97S OR13A1_uc001jcd.1_Missense_Mutation_p.P93S NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCGCCTTGGGCATGATGGAA 0.552000 RBP3 5949 broad.mit.edu 37 10 48390461 48390461 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:48390461C>T uc001jez.2 - 1 531 c.417G>A c.(415-417)CCG>CCA p.P139P NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 139 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CCTCCTGGCCCGGGACGCTGT 0.637000 SLC18A3 6572 broad.mit.edu 37 10 50819325 50819325 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:50819325C>T uc001jhw.2 + 1 979 c.539C>T c.(538-540)GCG>GTG p.A180V CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 180 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 ACGCTGTTCGCGGCGCGCAGC 0.662000 PCDH15 65217 broad.mit.edu 37 10 55569106 55569106 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:55569106T>A uc010qhs.1 - 37 5114 c.4719A>T c.(4717-4719)GAA>GAT p.E1573D PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.E1566D|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCTGCCACTCTTCACCCTCAA 0.413000 HNSCC(58;0.16) CDH23 64072 broad.mit.edu 37 10 73574963 73574963 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:73574963C>T uc001jrx.3 + 68 10370 c.9993C>T c.(9991-9993)TCC>TCT p.S3331S CDH23_uc001jsg.3_Silent_p.S1091S|CDH23_uc001jsh.3_Silent_p.S1056S|CDH23_uc001jsi.3_Silent_p.S1056S|CDH23_uc001jsj.3_Silent_p.S228S|CDH23_uc010qjr.1_Silent_p.S193S NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3331 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GCACAGAATCCGCCAAATCCA 0.632000 SEMA4G 57715 broad.mit.edu 37 10 102737435 102737435 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:102737435C>T uc010qpt.1 + 5 826 c.383C>T c.(382-384)ACC>ATC p.T128I SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.T128I|SEMA4G_uc001krx.2_Missense_Mutation_p.T128I NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 128 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CTCAATTCTACCCACCTCTAT 0.478000 PPRC1 23082 broad.mit.edu 37 10 103898676 103898676 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:103898676G>A uc001kum.2 + 4 569 c.530G>A c.(529-531)CGT>CAT p.R177H PPRC1_uc001kun.2_Missense_Mutation_p.R57H|PPRC1_uc010qqj.1_Missense_Mutation_p.R177H|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCCCCAGAACGTGACCTCATC 0.542000 CCDC147 159686 broad.mit.edu 37 10 106125738 106125738 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:106125738A>G uc001kyh.2 + 5 898 c.764A>G c.(763-765)AAG>AGG p.K255R NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 255 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAGCTTCAGAAGCTGGAGCAG 0.498000 CCDC147 159686 broad.mit.edu 37 10 106209856 106209856 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:106209856G>A uc001kyh.2 + 17 2538 c.2404G>A c.(2404-2406)GAA>AAA p.E802K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 802 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAATATGTATGAAGTACAGAG 0.323000 PDZD8 118987 broad.mit.edu 37 10 119078468 119078468 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr10:119078468G>A uc001lde.1 - 3 1212 c.1013C>T c.(1012-1014)TCC>TTC p.S338F NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 338 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TCTGTCATAGGATCCAAAAAT 0.323000 PHRF1 57661 broad.mit.edu 37 11 608145 608145 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:608145G>A uc001lqe.2 + 14 2820 c.2689G>A c.(2689-2691)GGA>AGA p.G897R PHRF1_uc010qwc.1_Missense_Mutation_p.G896R|PHRF1_uc010qwd.1_Missense_Mutation_p.G895R|PHRF1_uc010qwe.1_Missense_Mutation_p.G893R|PHRF1_uc009ybz.1_Missense_Mutation_p.G687R|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 897 RNA polymerase binding|zinc ion binding 0 ACCCCCTCTCGGACCGTCCTC 0.672000 OR51L1 119682 broad.mit.edu 37 11 5020717 5020717 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:5020717C>T uc010qyu.1 + 1 505 c.505C>T c.(505-507)CAC>TAC p.H169Y NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGACACTATCACTACTGCCA 0.473000 OR2D2 120776 broad.mit.edu 37 11 6913570 6913570 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:6913570T>G uc010rau.1 - 1 162 c.162A>C c.(160-162)CAA>CAC p.Q54H NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGTGTGAAGTTGGGAGTCAA 0.458000 C11orf16 56673 broad.mit.edu 37 11 8951047 8951047 + Silent SNP G G A rs142369137 TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:8951047G>A uc001mhb.3 - 3 325 c.201C>T c.(199-201)GCC>GCT p.A67A C11orf16_uc001mhc.3_Silent_p.A67A NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 67 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) ATGCTGGGTCGGCAACGTGGA 0.522000 WEE1 7465 broad.mit.edu 37 11 9608313 9608313 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:9608313A>G uc001mhs.2 + 10 1950 c.1697A>G c.(1696-1698)CAT>CGT p.H566R WEE1_uc001mht.2_Missense_Mutation_p.H352R NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 566 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CTGGTAAAGCATTCAGTATTG 0.348000 AMBRA1 55626 broad.mit.edu 37 11 46564896 46564896 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:46564896C>T uc010rgu.1 - 7 1031 c.671G>A c.(670-672)CGT>CAT p.R224H AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.R224H|AMBRA1_uc001ncu.1_Missense_Mutation_p.R224H|AMBRA1_uc001ncv.2_Missense_Mutation_p.R224H|AMBRA1_uc001ncw.2_Missense_Mutation_p.R224H|AMBRA1_uc001ncx.2_Missense_Mutation_p.R224H NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 224 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GGCACGCTGACGGTAGTGGGA 0.582000 ZNF408 79797 broad.mit.edu 37 11 46724788 46724788 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:46724788G>C uc001nde.1 + 4 877 c.647G>C c.(646-648)TGC>TCC p.C216S ARHGAP1_uc001ndd.2_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.1_Missense_Mutation_p.C208S NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 GCAGAACCTTGCATAGGTATG 0.383000 FOLH1 2346 broad.mit.edu 37 11 49221943 49221943 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:49221943A>G uc001ngy.2 - 3 536 c.275T>C c.(274-276)CTT>CCT p.L92P FOLH1_uc001ngz.2_Missense_Mutation_p.L92P|FOLH1_uc009yly.2_Missense_Mutation_p.L77P|FOLH1_uc009ylz.2_Missense_Mutation_p.L77P|FOLH1_uc009yma.2_Intron|FOLH1_uc001nha.2_Missense_Mutation_p.L77P NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 92 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTGCTTTGCAAGCTGAAAGTT 0.363000 OR4P4 81300 broad.mit.edu 37 11 55406147 55406147 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:55406147T>G uc010rij.1 + 1 314 c.314T>G c.(313-315)TTT>TGT p.F105C NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ACCCATTTTTTTGGAGGCATA 0.428000 OR5L1 219437 broad.mit.edu 37 11 55579654 55579654 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:55579654T>G uc001nhw.1 + 1 712 c.712T>G c.(712-714)TTC>GTC p.F238V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GCACAAAGCCTTCTCCACCTG 0.498000 DRAP1 10589 broad.mit.edu 37 11 65688402 65688402 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:65688402A>T uc001ogj.1 + 6 716 c.471A>T c.(469-471)CAA>CAT p.Q157H C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank NM_006442 NP_006433 Q14919 NC2A_HUMAN DR1-associated protein 1 157 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 READ - Rectum adenocarcinoma(159;0.166) AGACATCACAACCCCCACCCC 0.577000 ODZ4 26011 broad.mit.edu 37 11 78383337 78383337 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:78383337C>T uc001ozl.3 - 31 5997 c.5534G>A c.(5533-5535)CGC>CAC p.R1845H ODZ4_uc001ozk.3_Missense_Mutation_p.R70H|ODZ4_uc009yvb.1_Missense_Mutation_p.R429H NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1845 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GCGTGTTACGCGATCAAAGTC 0.517000 DYNC2H1 79659 broad.mit.edu 37 11 103027345 103027345 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:103027345G>A uc001pho.2 + 26 4117 c.3973G>A c.(3973-3975)GTA>ATA p.V1325I DYNC2H1_uc001phn.1_Missense_Mutation_p.V1325I|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1325 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGAAGATAAAGTATCAATTTG 0.343000 FAM55D 54827 broad.mit.edu 37 11 114453678 114453678 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:114453678G>A uc001ppc.2 - 3 343 c.162C>T c.(160-162)TTC>TTT p.F54F FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 54 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) GTGTTTTAGGGAATAAGGACT 0.403000 TRAPPC4 51399 broad.mit.edu 37 11 118889853 118889853 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:118889853T>A uc010ryo.1 + 2 441 c.176T>A c.(175-177)GTG>GAG p.V59E RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.V59E|TRAPPC4_uc010ryp.1_Missense_Mutation_p.V59E|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.V59E NM_016146 NP_057230 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 59 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) ACCTCTGCAGTGGGTCATGCA 0.602000 OR8G2 26492 broad.mit.edu 37 11 124096172 124096172 + Silent SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:124096172T>C uc010saf.1 + 1 775 c.775T>C c.(775-777)TTG>CTG p.L259L NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 259 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTCCCACATCTTGGCTGTTGC 0.502000 SLC37A2 219855 broad.mit.edu 37 11 124949031 124949031 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr11:124949031C>T uc001qbn.2 + 5 589 c.338C>T c.(337-339)CCG>CTG p.P113L SLC37A2_uc010sau.1_Missense_Mutation_p.P113L NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 113 carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) GAGCGGCTTCCGCTCCGTTAC 0.468000 TAS2R7 50837 broad.mit.edu 37 12 10954798 10954798 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:10954798C>G uc001qyv.2 - 1 429 c.372G>C c.(370-372)TGG>TGC p.W124C NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 124 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 TGTCAATTCTCCACTTCATCC 0.418000 TAS2R14 50840 broad.mit.edu 37 12 11091473 11091473 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:11091473C>T uc010shi.1 - 1 334 c.334G>A c.(334-336)GCC>ACC p.A112T PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 112 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity 0 GAAAAATTGGCTATCTTGAGA 0.348000 SOX5 6660 broad.mit.edu 37 12 23908589 23908589 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:23908589T>G uc001rfw.2 - 4 653 c.551A>C c.(550-552)AAC>ACC p.N184T SOX5_uc001rfx.2_Missense_Mutation_p.N171T|SOX5_uc001rfy.2_Missense_Mutation_p.N171T|SOX5_uc010siv.1_Missense_Mutation_p.N171T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.N136T NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 184 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TTCGCCAAAGTTCCCCGATCC 0.338000 TSPAN11 441631 broad.mit.edu 37 12 31132552 31132552 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:31132552G>A uc010sju.1 + 5 783 c.403G>A c.(403-405)GGG>AGG p.G135R TSPAN11_uc001rjp.2_Missense_Mutation_p.G135R|TSPAN11_uc010sjv.1_Missense_Mutation_p.G125R NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 135 integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TGAGAACTACGGGCAGCCCGG 0.527000 LRRK2 120892 broad.mit.edu 37 12 40668689 40668689 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:40668689A>G uc001rmg.3 + 16 1956 c.1835A>G c.(1834-1836)TAC>TGC p.Y612C LRRK2_uc001rmh.1_Missense_Mutation_p.Y234C NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 612 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) CTTATAGGATACTTGATTACA 0.313000 EIF4B 1975 broad.mit.edu 37 12 53433975 53433975 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:53433975G>C uc001sbh.3 + 15 2010 c.1804G>C c.(1804-1806)GAT>CAT p.D602H EIF4B_uc010snu.1_Missense_Mutation_p.D607H|EIF4B_uc010snv.1_Missense_Mutation_p.D563H|EIF4B_uc001sbi.2_Missense_Mutation_p.D355H|uc001sbj.1_RNA NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 602 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 TGATGGTGAAGATGAAAATGA 0.433000 NEUROD4 58158 broad.mit.edu 37 12 55420235 55420235 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:55420235T>G uc001sgp.3 + 2 390 c.12T>G c.(10-12)ACT>ACG p.T4T NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 4 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 TGTCAAAAACTTTTGTAAAAT 0.378000 CEP290 80184 broad.mit.edu 37 12 88473003 88473003 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:88473003G>C uc001tar.2 - 39 5574 c.5230C>G c.(5230-5232)CTT>GTT p.L1744V CEP290_uc001taq.2_Missense_Mutation_p.L804V NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1744 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 GCCCGACTAAGTGCCTAAAAA 0.318000 STAB2 55576 broad.mit.edu 37 12 104049325 104049325 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:104049325A>C uc001tjw.2 + 15 1886 c.1700A>C c.(1699-1701)AAG>ACG p.K567T NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 567 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AATAACATGAAGGACGGCACT 0.458000 DDX54 79039 broad.mit.edu 37 12 113603492 113603492 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:113603492C>T uc001tup.2 - 14 1704 c.1676G>A c.(1675-1677)CGG>CAG p.R559Q DDX54_uc001tuq.3_Missense_Mutation_p.R559Q NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 559 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 CAGCCTCAGCCGCTGCAGCTC 0.607000 KSR2 283455 broad.mit.edu 37 12 118298219 118298219 + Nonsense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr12:118298219G>C uc001two.2 - 2 166 c.111C>G c.(109-111)TAC>TAG p.Y37* NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 66 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCGGCTGAAGTACTTCACCA 0.592000 TRPC4 7223 broad.mit.edu 37 13 38320315 38320315 + Missense_Mutation SNP G G A rs79170793 TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr13:38320315G>A uc001uws.2 - 3 891 c.656C>T c.(655-657)ACA>ATA p.T219I TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.T219I|TRPC4_uc010tey.1_Missense_Mutation_p.T219I|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.T219I|TRPC4_uc010aby.2_Missense_Mutation_p.T219I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 219 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTGAAAGGCTGTGAGAAAAGG 0.488000 DHRS4L1 728635 broad.mit.edu 37 14 24505773 24505773 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr14:24505773T>C uc010alc.2 + 1 64 c.64T>C c.(64-66)TCC>CCC p.S22P DHRS4L1_uc010tnu.1_RNA NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 22 binding|oxidoreductase activity 0 GTTGGCCAGCTCCGGGATGAC 0.647000 PNN 5411 broad.mit.edu 37 14 39646862 39646862 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr14:39646862T>A uc001wuw.3 + 5 490 c.393T>A c.(391-393)GAT>GAA p.D131E NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 131 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) TTATCCAGGATCAAAATATGG 0.398000 SYNE2 23224 broad.mit.edu 37 14 64518714 64518714 + Nonsense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr14:64518714G>T uc001xgm.2 + 48 8313 c.8083G>T c.(8083-8085)GGA>TGA p.G2695* SYNE2_uc001xgl.2_Nonsense_Mutation_p.G2695* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2695 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAGGATTTGGGGAGAAAAAGA 0.393000 ADAM21 8747 broad.mit.edu 37 14 70925106 70925106 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr14:70925106T>C uc001xmd.2 + 1 890 c.890T>C c.(889-891)ATG>ACG p.M297T NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 297 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCTGCACATATGTTCATAAAA 0.383000 GABRA5 2558 broad.mit.edu 37 15 27114465 27114465 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:27114465T>G uc001zbd.1 + 4 409 c.70T>G c.(70-72)TTA>GTA p.L24V GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 24 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCCATGAACTTATCCAGTCA 0.393000 OCA2 4948 broad.mit.edu 37 15 28196946 28196946 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:28196946G>A uc001zbh.3 - 18 2045 c.1935C>T c.(1933-1935)GGC>GGT p.G645G OCA2_uc010ayv.2_Silent_p.G621G NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 645 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CAAGATGAATGCCAGGGACAA 0.433000 Oculocutaneous_Albinism RYR3 6263 broad.mit.edu 37 15 33925224 33925224 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:33925224T>G uc001zhi.2 + 24 3012 c.2942T>G c.(2941-2943)ATT>AGT p.I981S RYR3_uc010bar.2_Missense_Mutation_p.I981S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 981 2.|4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCAAGAAATTTTAGTGGAT 0.393000 RYR3 6263 broad.mit.edu 37 15 33954664 33954664 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:33954664G>T uc001zhi.2 + 35 5003 c.4933G>T c.(4933-4935)GAC>TAC p.D1645Y RYR3_uc010bar.2_Missense_Mutation_p.D1645Y NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1645 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCTTCCCGGACGAGTCCAA 0.572000 TMEM87A 25963 broad.mit.edu 37 15 42560228 42560228 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:42560228C>G uc010udd.1 - 3 367 c.208G>C c.(208-210)GAT>CAT p.D70H TMEM87A_uc001zpf.3_Missense_Mutation_p.D9H|TMEM87A_uc010bcu.1_Missense_Mutation_p.D9H|TMEM87A_uc001zpg.2_Missense_Mutation_p.D70H NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 70 integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) GGTTCTCCATCAACTACAAAA 0.313000 CEP152 22995 broad.mit.edu 37 15 49083523 49083523 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:49083523G>C uc001zwy.2 - 8 917 c.883C>G c.(883-885)CAG>GAG p.Q295E CEP152_uc001zwz.2_Missense_Mutation_p.Q295E|CEP152_uc001zxa.1_Missense_Mutation_p.Q202E NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 295 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTTCCATTCTGAAAGAGTTTC 0.363000 CILP 8483 broad.mit.edu 37 15 65489129 65489129 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:65489129C>T uc002aon.2 - 9 3676 c.3495G>A c.(3493-3495)CAG>CAA p.Q1165Q NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1165 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CCACTCCACCCTGGCGCTGGC 0.587000 C15orf58 390637 broad.mit.edu 37 15 90784534 90784534 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr15:90784534G>A uc002bpc.2 + 4 573 c.394G>A c.(394-396)GGA>AGA p.G132R NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN hypothetical protein LOC390637 132 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity 0 GATCCGGCCCGGAGAAGTCCT 0.587000 GLYR1 84656 broad.mit.edu 37 16 4882044 4882044 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr16:4882044G>T uc002cxx.3 - 5 510 c.473C>A c.(472-474)TCC>TAC p.S158Y GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.S89Y|GLYR1_uc002cya.2_Missense_Mutation_p.S158Y|GLYR1_uc010uxv.1_Intron NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 158 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 TTTCAGAGGGGATTTGGAGCC 0.522000 ABR 29 broad.mit.edu 37 17 910419 910419 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:910419C>T uc002fsd.2 - 22 2586 c.2476G>A c.(2476-2478)GAC>AAC p.D826N ABR_uc002fse.2_Missense_Mutation_p.D780N|ABR_uc010vqf.1_Missense_Mutation_p.D277N|ABR_uc010vqg.1_Missense_Mutation_p.D608N|ABR_uc002fsg.2_Missense_Mutation_p.D789N|ABR_uc002fsf.2_Missense_Mutation_p.D363N NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 826 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GCCATGACGTCATGGGACCAG 0.652000 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) DNAH9 1770 broad.mit.edu 37 17 11671866 11671866 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:11671866G>T uc002gne.2 + 37 7335 c.7267G>T c.(7267-7269)GAC>TAC p.D2423Y DNAH9_uc010coo.2_Missense_Mutation_p.D1717Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2423 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTATTACATCGACCCAGAGAC 0.527000 SREBF1 6720 broad.mit.edu 37 17 17718001 17718001 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:17718001C>T uc002gru.1 - 15 2857 c.2663G>A c.(2662-2664)CGG>CAG p.R888Q SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.R507Q|SREBF1_uc002grq.1_Missense_Mutation_p.R407Q|SREBF1_uc002grr.1_Missense_Mutation_p.R634Q|SREBF1_uc002grs.1_Missense_Mutation_p.R864Q|SREBF1_uc002grt.1_Missense_Mutation_p.R918Q|MIR33B_hsa-mir-33b|MI0003646_5'Flank NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 888 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CTCATCCCGCCGCAGCCAGTG 0.672000 ATAD5 79915 broad.mit.edu 37 17 29220647 29220647 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:29220647G>A uc002hfs.1 + 21 5122 c.4776G>A c.(4774-4776)CTG>CTA p.L1592L NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1592 Poly-Ser. response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CTATTAGCCTGTCCTCTGTAT 0.368000 AP2B1 163 broad.mit.edu 37 17 33966626 33966626 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:33966626C>G uc002hjr.2 + 11 1473 c.1284C>G c.(1282-1284)ATC>ATG p.I428M AP2B1_uc002hjq.2_Missense_Mutation_p.I428M|AP2B1_uc010wci.1_Missense_Mutation_p.I390M|AP2B1_uc002hjs.2_Missense_Mutation_p.I371M|AP2B1_uc002hjt.2_Missense_Mutation_p.I428M|AP2B1_uc010ctv.2_Missense_Mutation_p.I428M|AP2B1_uc010wcj.1_Missense_Mutation_p.I165M NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 428 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ATGAAAGTATCATCGCCACTC 0.398000 TAF15 8148 broad.mit.edu 37 17 34171905 34171905 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:34171905C>T uc002hkd.2 + 15 1688 c.1602C>T c.(1600-1602)GAC>GAT p.D534D TAF15_uc002hkc.2_Silent_p.D531D NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 534 Arg/Gly-rich.|17.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) ATGGAGGAGACCGTGGTGGTG 0.418000 T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL CASC3 22794 broad.mit.edu 37 17 38319064 38319064 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:38319064C>T uc010cwt.1 + 6 990 c.695C>T c.(694-696)TCC>TTC p.S232F CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 232 Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 GCCCCAAAGTCCCGACAGGAG 0.512000 CASC3 22794 broad.mit.edu 37 17 38324513 38324513 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:38324513C>T uc010cwt.1 + 11 2103 c.1808C>T c.(1807-1809)CCA>CTA p.P603L CASC3_uc002hue.2_Missense_Mutation_p.P603L NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 603 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 TATCCCCCACCAGTGTCCATG 0.488000 OREG0024392 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CASC3 22794 broad.mit.edu 37 17 38324586 38324586 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:38324586C>T uc010cwt.1 + 11 2176 c.1881C>T c.(1879-1881)GTC>GTT p.V627V CASC3_uc002hue.2_Silent_p.V627V NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 627 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 CTCCAGGCGTCATGAACTTTG 0.542000 OREG0024392 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CASC3 22794 broad.mit.edu 37 17 38324639 38324639 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:38324639C>T uc010cwt.1 + 11 2229 c.1934C>T c.(1933-1935)CCA>CTA p.P645L CASC3_uc002hue.2_Missense_Mutation_p.P645L NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 645 Necessary for localization in cytoplasmic stress granules.|Poly-Pro. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 CTGCCTCCCCCACCACCGCCT 0.478000 OREG0024392 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CASC3 22794 broad.mit.edu 37 17 38325584 38325584 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:38325584C>T uc010cwt.1 + 12 2268 c.1973C>T c.(1972-1974)TCA>TTA p.S658L CASC3_uc002hue.2_Missense_Mutation_p.S658L NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 658 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 CAGGCCCCATCACAGGTATAT 0.517000 CASC3 22794 broad.mit.edu 37 17 38325681 38325681 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:38325681C>T uc010cwt.1 + 12 2365 c.2070C>T c.(2068-2070)ATC>ATT p.I690I CASC3_uc002hue.2_Silent_p.I690I NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 690 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 CAGTCACCATCAAGCCCCCTC 0.557000 HAP1 9001 broad.mit.edu 37 17 39890671 39890671 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:39890671C>T uc002hxm.1 - 1 228 c.216G>A c.(214-216)TCG>TCA p.S72S JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 72 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CTCCAGCCTCCGAGGCCGGGC 0.697000 EPN3 55040 broad.mit.edu 37 17 48619031 48619031 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:48619031A>G uc002ira.3 + 9 1996 c.1561A>G c.(1561-1563)AAG>GAG p.K521E SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.K549E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.K494E NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 521 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCAGGTTGCAAAGACCCGGAA 0.607000 LPO 4025 broad.mit.edu 37 17 56326946 56326946 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:56326946G>A uc002ivt.2 + 6 779 c.463G>A c.(463-465)GCC>ACC p.A155T LPO_uc010dco.2_Missense_Mutation_p.A155T|LPO_uc010wnr.1_Missense_Mutation_p.A72T|LPO_uc010wns.1_Missense_Mutation_p.A96T|LPO_uc010dcp.2_Missense_Mutation_p.A72T|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 155 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 TGCGCTGGGCGCCGCCAACAG 0.716000 CYGB 114757 broad.mit.edu 37 17 74527570 74527570 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:74527570T>G uc002jru.1 - 2 505 c.347A>C c.(346-348)AAG>ACG p.K116T CYGB_uc002jrv.1_Missense_Mutation_p.K51T|PRCD_uc002jrw.1_Intron NM_134268 NP_599030 Q8WWM9 CYGB_HUMAN cytoglobin 116 Globin. response to oxidative stress cytoplasm heme binding|oxygen binding|oxygen transporter activity|peroxidase activity 0 CACCTTGTGCTTGAGGGCGTG 0.637000 CD7 924 broad.mit.edu 37 17 80274791 80274791 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr17:80274791G>T uc002kel.1 - 2 258 c.149C>A c.(148-150)ACC>AAC p.T50N CD7_uc010din.2_Missense_Mutation_p.T50N|CD7_uc002kem.2_Missense_Mutation_p.H31Q|CD7_uc010wvk.1_Missense_Mutation_p.T50N NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 50 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) GCCCCCGCTGGTGGAGCAGGT 0.647000 FAM38B 63895 broad.mit.edu 37 18 10689765 10689765 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr18:10689765G>A uc002kor.3 - 7 1057 c.917C>T c.(916-918)GCA>GTA p.A306V FAM38B_uc002koq.2_Missense_Mutation_p.A204V NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2349 integral to membrane ion channel activity ovary(1) 1 GTCCATCACTGCCCTCAGCTC 0.562000 CEP76 79959 broad.mit.edu 37 18 12678251 12678251 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr18:12678251C>T uc002kri.2 - 10 1636 c.1480G>A c.(1480-1482)GAA>AAA p.E494K PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.E316K|CEP76_uc010wzz.1_Missense_Mutation_p.E419K NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 494 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 TTAATTGCTTCCTCACTCATG 0.443000 CELF4 56853 broad.mit.edu 37 18 34850769 34850769 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr18:34850769G>A uc002lae.2 - 8 1457 c.1061C>T c.(1060-1062)GCG>GTG p.A354V CELF4_uc010dnd.1_Missense_Mutation_p.A352V|CELF4_uc002lag.2_Missense_Mutation_p.A344V|CELF4_uc002laf.2_Missense_Mutation_p.A349V|CELF4_uc002lai.2_Missense_Mutation_p.A339V|CELF4_uc002lah.1_Missense_Mutation_p.A79V NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 354 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CACAGCTTCCGCAGCAGGTTG 0.587000 DSEL 92126 broad.mit.edu 37 18 65178783 65178783 + Silent SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr18:65178783T>C uc002lke.1 - 2 4317 c.3093A>G c.(3091-3093)GGA>GGG p.G1031G NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1021 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TCATCGAAGCTCCTAAAACTT 0.408000 SALL3 27164 broad.mit.edu 37 18 76754298 76754298 + Silent SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr18:76754298G>T uc002lmt.2 + 2 2307 c.2307G>T c.(2305-2307)ACG>ACT p.T769T SALL3_uc010dra.2_Silent_p.T376T NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 769 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCCCCAACACGCCGCTGCCGG 0.632000 SH3GL1 6455 broad.mit.edu 37 19 4361603 4361603 + Silent SNP C C T rs146571406 byFrequency TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:4361603C>T uc002maj.2 - 10 1207 c.1101G>A c.(1099-1101)CCG>CCA p.P367P SH3GL1_uc002mak.2_Silent_p.P303P|SH3GL1_uc010xig.1_Silent_p.P319P NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 367 central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TGAGTCACTGCGGCAGGGGCA 0.687000 T MLL AL RANBP3 8498 broad.mit.edu 37 19 5917643 5917643 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:5917643C>T uc002mdw.2 - 17 1909 c.1682G>A c.(1681-1683)GGG>GAG p.G561E RANBP3_uc002mdv.2_Missense_Mutation_p.G280E|RANBP3_uc002mdx.2_Missense_Mutation_p.G556E|RANBP3_uc002mdy.2_Missense_Mutation_p.G493E|RANBP3_uc002mdz.2_Missense_Mutation_p.G488E|RANBP3_uc010duq.2_Missense_Mutation_p.G466E|RANBP3_uc002mea.2_Missense_Mutation_p.G428E|RANBP3_uc010xix.1_Missense_Mutation_p.G433E NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 561 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 GGTCGTCTGCCCGTCCCCTTC 0.706000 DCAF15 90379 broad.mit.edu 37 19 14069937 14069937 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:14069937C>T uc002mxt.2 + 7 871 c.865C>T c.(865-867)CCA>TCA p.P289S DCAF15_uc002mxu.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 289 central_nervous_system(1) 1 GCCCCAGAGCCCAGAGCTGCC 0.662000 ZNF208 7757 broad.mit.edu 37 19 22156505 22156505 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:22156505T>G uc002nqp.2 - 4 1480 c.1331A>C c.(1330-1332)AAG>ACG p.K444T ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GTGAATTTTCTTATGTTCCAT 0.373000 CCNE1 898 broad.mit.edu 37 19 30308420 30308420 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:30308420G>A uc002nsn.2 + 6 617 c.434G>A c.(433-435)CGA>CAA p.R145Q CCNE1_uc002nso.2_Missense_Mutation_p.R130Q NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 145 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CCAAAAATGCGAGCAATTCTT 0.418000 CHST8 64377 broad.mit.edu 37 19 34263938 34263938 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:34263938C>T uc002nus.3 + 5 1750 c.1245C>T c.(1243-1245)AAC>AAT p.N415N CHST8_uc002nut.3_Silent_p.N415N|CHST8_uc002nuu.2_Silent_p.N415N NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 415 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) TGATGTTCAACTATTCCAAGC 0.622000 BCKDHA 593 broad.mit.edu 37 19 41903737 41903737 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:41903737C>T uc002oqq.2 + 1 34 c.5C>T c.(4-6)GCG>GTG p.A2V CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|EXOSC5_uc002oqo.2_5'Flank|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Missense_Mutation_p.A2V|BCKDHA_uc010xvz.1_Missense_Mutation_p.A2V NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 2 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 GCCAAGATGGCGGTAGCGATC 0.622000 EML2 24139 broad.mit.edu 37 19 46124767 46124767 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:46124767C>T uc002pcn.2 - 10 1005 c.970G>A c.(970-972)GAC>AAC p.D324N EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.D208N|EML2_uc010xxl.1_Missense_Mutation_p.D471N|EML2_uc010xxm.1_Missense_Mutation_p.D525N|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.D324N|EML2_uc010ekj.2_Silent_p.L290L NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 324 WD 5. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TTGCTGTAGTCAGAACCCCAG 0.697000 ZNF677 342926 broad.mit.edu 37 19 53741699 53741699 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr19:53741699A>C uc002qbf.1 - 5 466 c.281T>G c.(280-282)TTT>TGT p.F94C ZNF677_uc002qbg.1_Missense_Mutation_p.F94C NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) CTTGAGGTCAAAATTGTTGAT 0.358000 CLIP4 79745 broad.mit.edu 37 2 29404701 29404701 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:29404701C>T uc002rmv.2 + 16 2299 c.2060C>T c.(2059-2061)CCG>CTG p.P687L CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 687 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TTAGTTCGACCGAGCAGAGTG 0.423000 RASGRP3 25780 broad.mit.edu 37 2 33783389 33783389 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:33783389C>A uc002rox.2 + 17 2318 c.1691C>A c.(1690-1692)CCC>CAC p.P564H RASGRP3_uc010ync.1_Missense_Mutation_p.P564H|RASGRP3_uc002roy.2_Missense_Mutation_p.P563H NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 564 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) CCTGGAAGCCCCTCGCTGCCC 0.557000 FSHR 2492 broad.mit.edu 37 2 49195912 49195912 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:49195912T>G uc002rww.2 - 9 853 c.779A>C c.(778-780)AAG>ACG p.K260T FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.K234T NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 260 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GGCGACAAGCTTTTCCAGAGT 0.493000 Gonadal_Dysgenesis_46_XX KDM3A 55818 broad.mit.edu 37 2 86712978 86712978 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:86712978T>G uc002sri.3 + 21 3636 c.3309T>G c.(3307-3309)GCT>GCG p.A1103A KDM3A_uc010ytj.1_Silent_p.A1103A|KDM3A_uc010ytk.1_Silent_p.A1051A NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1103 JmjC. androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 TGTATAATGCTTATGGTAAGG 0.413000 SCN3A 6328 broad.mit.edu 37 2 166032868 166032868 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:166032868T>C uc002ucx.2 - 3 529 c.37A>G c.(37-39)AGC>GGC p.S13G SCN3A_uc002ucy.2_Missense_Mutation_p.S13G|SCN3A_uc002ucz.2_Missense_Mutation_p.S13G NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 13 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AGGCGGAAGCTTTCAGGTCCT 0.423000 XIRP2 129446 broad.mit.edu 37 2 168100923 168100923 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:168100923A>C uc002udx.2 + 8 3039 c.3021A>C c.(3019-3021)GAA>GAC p.E1007D XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E832D|XIRP2_uc010fpq.2_Missense_Mutation_p.E785D|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 832 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCCAGCAAGAAGAAATCGTAA 0.378000 TTN 7273 broad.mit.edu 37 2 179449516 179449516 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:179449516A>G uc010zfg.1 - 259 57372 c.57148T>C c.(57148-57150)TCC>CCC p.S19050P uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S12745P|TTN_uc010zfi.1_Missense_Mutation_p.S12678P|TTN_uc010zfj.1_Missense_Mutation_p.S12553P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19977 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) ACCCTGCAGGAAGTTTTTGTG 0.502000 TTN 7273 broad.mit.edu 37 2 179477622 179477622 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:179477622T>C uc010zfg.1 - 214 42346 c.42122A>G c.(42121-42123)CAG>CGG p.Q14041R uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q7736R|TTN_uc010zfi.1_Missense_Mutation_p.Q7669R|TTN_uc010zfj.1_Missense_Mutation_p.Q7544R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14968 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) GAGCAAGTGCTGAGTGGTGGG 0.507000 TTN 7273 broad.mit.edu 37 2 179640750 179640750 + Silent SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:179640750A>G uc010zfg.1 - 28 6065 c.5841T>C c.(5839-5841)CCT>CCC p.P1947P TTN_uc010zfh.1_Silent_p.P1901P|TTN_uc010zfi.1_Silent_p.P1901P|TTN_uc010zfj.1_Silent_p.P1901P|TTN_uc002unb.2_Silent_p.P1947P|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1947 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) CGTGAAACTCAGGCCTTGGTT 0.423000 ZNF804A 91752 broad.mit.edu 37 2 185802566 185802566 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:185802566A>C uc002uph.2 + 4 3037 c.2443A>C c.(2443-2445)AAA>CAA p.K815Q NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 815 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ACGGAGGCGAAAAAGAGGCAG 0.393000 SPAG16 79582 broad.mit.edu 37 2 215013944 215013944 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr2:215013944C>T uc002veq.2 + 15 1766 c.1674C>T c.(1672-1674)ATC>ATT p.I558I SPAG16_uc010fuz.1_Silent_p.I409I|SPAG16_uc002ver.2_Silent_p.I504I|SPAG16_uc010zjk.1_Silent_p.I464I NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 558 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTGTGTCCATCGATATAGGTC 0.388000 ADAM33 80332 broad.mit.edu 37 20 3653524 3653524 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:3653524G>A uc002wit.2 - 12 1242 c.1155C>T c.(1153-1155)TTC>TTT p.F385F ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.F385F|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Silent_p.F385F|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 385 Extracellular (Potential).|Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 TGCAGGCGCTGAACACGCGCG 0.736000 SPTLC3 55304 broad.mit.edu 37 20 13098334 13098334 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:13098334A>C uc002wod.1 + 8 1403 c.1114A>C c.(1114-1116)AGT>CGT p.S372R NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 372 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) ATTCACCAAAAGTTTTGGAGC 0.542000 BPIL3 128859 broad.mit.edu 37 20 31625387 31625387 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:31625387A>G uc010zuc.1 + 8 689 c.689A>G c.(688-690)AAG>AGG p.K230R BPIL3_uc010zud.1_Missense_Mutation_p.K169R NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 230 extracellular region lipid binding ovary(1)|pancreas(1) 2 CAGCAGCAAAAGGGCAAAACC 0.602000 MMP24 10893 broad.mit.edu 37 20 33842556 33842556 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:33842556C>T uc002xbu.2 + 4 819 c.816C>T c.(814-816)GAC>GAT p.D272D EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 272 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCAACCATGACGGTAAGGCCA 0.557000 CSE1L 1434 broad.mit.edu 37 20 47679792 47679792 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:47679792T>A uc002xty.2 + 3 273 c.139T>A c.(139-141)TTG>ATG p.L47M CSE1L_uc010zyg.1_Translation_Start_Site|CSE1L_uc010ghx.2_Missense_Mutation_p.L47M NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 47 Importin N-terminal. apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) ACTGTTGCTTTTGACATTACT 0.299000 CTCFL 140690 broad.mit.edu 37 20 56078626 56078626 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:56078626C>T uc010gix.1 - 9 2368 c.1706G>A c.(1705-1707)GGA>GAA p.G569E CTCFL_uc010giw.1_Missense_Mutation_p.G569E|CTCFL_uc002xym.2_Missense_Mutation_p.G569E|CTCFL_uc010giz.1_Missense_Mutation_p.G157E|CTCFL_uc010giy.1_Missense_Mutation_p.G239E|CTCFL_uc010gja.1_Missense_Mutation_p.G519E|CTCFL_uc010gjb.1_Missense_Mutation_p.G569E|CTCFL_uc010gjc.1_Missense_Mutation_p.G569E|CTCFL_uc010gjd.1_Missense_Mutation_p.G569E|CTCFL_uc010gje.2_Missense_Mutation_p.G569E|CTCFL_uc010gjf.2_Missense_Mutation_p.G364E|CTCFL_uc010gjg.2_Missense_Mutation_p.G301E|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 569 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTCCCCTGATCCACACTTCTC 0.413000 OSBPL2 9885 broad.mit.edu 37 20 60859112 60859112 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:60859112C>T uc002yck.1 + 10 1085 c.883C>T c.(883-885)CTC>TTC p.L295F OSBPL2_uc002ycl.1_Missense_Mutation_p.L283F|OSBPL2_uc011aah.1_Missense_Mutation_p.L203F|OSBPL2_uc002ycm.1_Missense_Mutation_p.L107F NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 295 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CAAAAAGAAGCTCTTTATGAT 0.408000 COL20A1 57642 broad.mit.edu 37 20 61942989 61942989 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:61942989C>T uc011aau.1 + 13 1652 c.1552C>T c.(1552-1554)CGG>TGG p.R518W COL20A1_uc011aav.1_Missense_Mutation_p.R339W NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 518 Fibronectin type-III 3. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GCAGGTCGGGCGGCCCGAGGT 0.721000 MYT1 4661 broad.mit.edu 37 20 62848470 62848470 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:62848470G>A uc002yii.2 + 11 2046 c.1682G>A c.(1681-1683)CGG>CAG p.R561Q MYT1_uc002yih.2_Missense_Mutation_p.R263Q|MYT1_uc002yij.2_Missense_Mutation_p.R193Q NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 561 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGGAGCTACCGGCCCAACGTG 0.602000 TMPRSS15 5651 broad.mit.edu 37 21 19666630 19666630 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr21:19666630C>T uc002ykw.2 - 21 2474 c.2443G>A c.(2443-2445)GTC>ATC p.V815I NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 815 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TCACTGCTGACGAGAGATGCG 0.577000 KRTAP13-3 337960 broad.mit.edu 37 21 31797958 31797958 + Silent SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr21:31797958A>T uc002yob.1 - 1 273 c.273T>A c.(271-273)TCT>TCA p.S91S NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 91 5 X 10 AA approximate repeats. intermediate filament ovary(1)|lung(1) 2 TAGTCAGGCAAGAATTGCAGA 0.567000 TTC3 7267 broad.mit.edu 37 21 38529049 38529049 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr21:38529049T>C uc002yvz.2 + 28 2938 c.2833T>C c.(2833-2835)TAT>CAT p.Y945H TTC3_uc011aee.1_Missense_Mutation_p.Y635H|TTC3_uc002ywa.2_Missense_Mutation_p.Y945H|TTC3_uc002ywb.2_Missense_Mutation_p.Y945H|TTC3_uc010gnf.2_Missense_Mutation_p.Y710H|TTC3_uc002ywc.2_Missense_Mutation_p.Y635H|TTC3_uc002ywd.1_Missense_Mutation_p.Y9H NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 945 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) GAATGAGAAATATGGTCACAA 0.383000 COL18A1 80781 broad.mit.edu 37 21 46914475 46914475 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr21:46914475G>A uc011afs.1 + 26 3635 c.3614G>A c.(3613-3615)CGA>CAA p.R1205Q COL18A1_uc002zhg.2_Missense_Mutation_p.R790Q|COL18A1_uc002zhi.2_Missense_Mutation_p.R970Q NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1205 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCGGGCTTCCGAGGACCCCCG 0.647000 MYO18B 84700 broad.mit.edu 37 22 26423267 26423267 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr22:26423267G>A uc003abz.1 + 43 7577 c.7327G>A c.(7327-7329)GAC>AAC p.D2443N MYO18B_uc003aca.1_Missense_Mutation_p.D2324N|MYO18B_uc010guy.1_Missense_Mutation_p.D2325N|MYO18B_uc010guz.1_Missense_Mutation_p.D2323N|MYO18B_uc011aka.1_Missense_Mutation_p.D1597N|MYO18B_uc011akb.1_Missense_Mutation_p.D1956N|MYO18B_uc010gva.1_Missense_Mutation_p.D426N|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2443 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGACTTCGATGACTTCCTCCC 0.552000 CRYBA4 1413 broad.mit.edu 37 22 27019290 27019290 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr22:27019290G>A uc003acz.3 + 3 167 c.132G>A c.(130-132)GTG>GTA p.V44V NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 44 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 TCGAGACTGTGCGATCTTTGA 0.607000 NEFH 4744 broad.mit.edu 37 22 29885531 29885531 + Silent SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr22:29885531C>A uc003afo.2 + 4 1973 c.1902C>A c.(1900-1902)TCC>TCA p.S634S NEFH_uc003afp.2_Intron NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 634 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|12.|Tail. cell death|nervous system development neurofilament 0 AGGTCAAGTCCCCGGAAAAGG 0.458000 TMPRSS6 164656 broad.mit.edu 37 22 37462911 37462911 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr22:37462911G>A uc003aqs.1 - 17 2346 c.2232C>T c.(2230-2232)CGC>CGT p.R744R TMPRSS6_uc003aqt.1_Silent_p.R757R NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 744 Peptidase S1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 CACACAGCATGCGTGGCGTCA 0.612000 SUN2 25777 broad.mit.edu 37 22 39148610 39148610 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr22:39148610G>A uc003awh.1 - 3 308 c.24C>T c.(22-24)CTC>CTT p.L8L SUN2_uc011anz.1_Silent_p.L43L|SUN2_uc011aoa.1_Silent_p.L43L|SUN2_uc003awi.1_Silent_p.L8L|SUN2_uc010gxq.1_Silent_p.L8L|SUN2_uc010gxr.1_Silent_p.L8L|SUN2_uc010gxs.1_Silent_p.L8L NM_015374 NP_056189 Q9UH99 SUN2_HUMAN unc-84 homolog B 8 Nuclear.|Ser-rich.|LMNA-binding (By similarity). centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding large_intestine(1)|skin(1) 2 AGTAGCGCGTGAGGCGCTGGC 0.597000 MPPED1 758 broad.mit.edu 37 22 43898608 43898608 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr22:43898608G>A uc011apv.1 + 6 1056 c.833G>A c.(832-834)CGG>CAG p.R278Q MPPED1_uc011apw.1_Missense_Mutation_p.R172Q|MPPED1_uc011apx.1_Missense_Mutation_p.R120Q|MPPED1_uc011apy.1_Missense_Mutation_p.R278Q|MPPED1_uc011apz.1_Missense_Mutation_p.R311Q NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 278 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) GTCCAGCCGCGGTTACATGTC 0.632000 ZNF385D 79750 broad.mit.edu 37 3 21552434 21552434 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:21552434A>G uc003cce.2 - 4 766 c.358T>C c.(358-360)TCT>CCT p.S120P ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 120 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GCAGTTACAGATTTCTGCTTA 0.448000 ZNF197 10168 broad.mit.edu 37 3 44684845 44684845 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:44684845G>A uc003cnm.2 + 6 2429 c.2223G>A c.(2221-2223)AAG>AAA p.K741K ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 741 C2H2-type 14. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ATTGTGGGAAGGCTTTCAGTT 0.423000 FYCO1 79443 broad.mit.edu 37 3 46016798 46016798 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:46016798A>G uc003cpb.3 - 5 534 c.328T>C c.(328-330)TAC>CAC p.Y110H FYCO1_uc011bal.1_Missense_Mutation_p.Y110H NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 110 RUN. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) ACCAAGGAGTAGCGAATAAAT 0.488000 TLR9 54106 broad.mit.edu 37 3 52255257 52255257 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:52255257G>A uc003dda.1 - 2 3709 c.3075C>T c.(3073-3075)TTC>TTT p.F1025F TLR9_uc003ddb.2_Silent_p.F1122F NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 1025 Cytoplasmic (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GTCCCTGGCAGAAGTTCCGGT 0.602000 CNTN3 5067 broad.mit.edu 37 3 74349082 74349082 + Silent SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:74349082T>C uc003dpm.1 - 16 2183 c.2103A>G c.(2101-2103)GAA>GAG p.E701E NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 701 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AAGGAGGCACTTCTGGAACTA 0.388000 TRIM42 287015 broad.mit.edu 37 3 140401645 140401645 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:140401645G>A uc003eto.1 + 2 874 c.683G>A c.(682-684)CGC>CAC p.R228H NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 228 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CTCAAGTGGCGCTTTGACCGC 0.617000 BCHE 590 broad.mit.edu 37 3 165548524 165548524 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:165548524T>G uc003fem.3 - 2 458 c.298A>C c.(298-300)AGT>CGT p.S100R BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 100 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CCTGGAAAACTTTGATCTATG 0.403000 RTP2 344892 broad.mit.edu 37 3 187416376 187416376 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr3:187416376G>T uc003fro.1 - 2 1017 c.588C>A c.(586-588)TTC>TTA p.F196L NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 196 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) GAAGAGACAAGAAGTTGTAGC 0.582000 PPARGC1A 10891 broad.mit.edu 37 4 23816032 23816032 + Silent SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:23816032G>C uc003gqs.2 - 8 1194 c.1074C>G c.(1072-1074)CTC>CTG p.L358L PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 358 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AGGACTTGCTGAGTTGTGCAT 0.512000 KCTD8 386617 broad.mit.edu 37 4 44449793 44449793 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:44449793C>T uc003gwu.2 - 1 1032 c.748G>A c.(748-750)GAC>AAC p.D250N NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 250 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TTGAGCGTGTCCCCGAAGACC 0.647000 HNSCC(17;0.042) GABRA4 2557 broad.mit.edu 37 4 46979472 46979472 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:46979472T>G uc003gxg.2 - 4 588 c.449A>C c.(448-450)AAG>ACG p.K150T NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 150 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTAAAAAGCTTATTTGGAGC 0.254000 CSN3 1448 broad.mit.edu 37 4 71115170 71115170 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:71115170G>A uc003hfe.3 + 4 601 c.543G>A c.(541-543)ACG>ACA p.T181T NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 181 TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence). extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CTCCACCTACGGCATAAAAAC 0.413000 PPBP 5473 broad.mit.edu 37 4 74853743 74853743 + Silent SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:74853743C>G uc003hhj.2 - 1 158 c.78G>C c.(76-78)CTG>CTC p.L26L NM_002704 NP_002695 P02775 CXCL7_HUMAN pro-platelet basic protein precursor 26 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) GCAGCAATGACAGAAGCAGCA 0.527000 THAP9 79725 broad.mit.edu 37 4 83840057 83840057 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:83840057G>A uc003hnt.2 + 5 2811 c.2692G>A c.(2692-2694)GAT>AAT p.D898N THAP9_uc003hns.1_Missense_Mutation_p.D754N|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.D615N NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 898 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) GCTAAGTAACGATGGATATCC 0.269000 C4orf37 285555 broad.mit.edu 37 4 98761987 98761987 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:98761987T>G uc003htt.1 - 9 1231 c.1141A>C c.(1141-1143)AGA>CGA p.R381R NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 381 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) GCATGTTTTCTTTTAGCCACT 0.413000 KIAA1109 84162 broad.mit.edu 37 4 123170768 123170768 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:123170768A>G uc003ieh.2 + 34 5686 c.5641A>G c.(5641-5643)ATA>GTA p.I1881V KIAA1109_uc003iek.2_Missense_Mutation_p.I500V NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1881 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGTAACTCGAATAGGTCCCAG 0.353000 ZFP42 132625 broad.mit.edu 37 4 188924770 188924770 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:188924770C>T uc003izg.1 + 3 1054 c.809C>T c.(808-810)ACG>ATG p.T270M ZFP42_uc003izh.1_Missense_Mutation_p.T270M|ZFP42_uc003izi.1_Missense_Mutation_p.T270M NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 270 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CGCATCCACACGGGGGAGAAA 0.498000 TRIML2 205860 broad.mit.edu 37 4 189022224 189022224 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr4:189022224G>T uc003izl.2 - 3 352 c.316C>A c.(316-318)CAG>AAG p.Q106K TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q156K|TRIML2_uc011clf.1_Missense_Mutation_p.Q156K NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 106 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGCATTTCCTGGAACATCTCC 0.403000 SPEF2 79925 broad.mit.edu 37 5 35753812 35753812 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:35753812G>T uc003jjo.2 + 24 3528 c.3417G>T c.(3415-3417)TGG>TGT p.W1139C SPEF2_uc003jjp.1_Missense_Mutation_p.W625C NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1139 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGAGAGCTGGTTACAGGACA 0.502000 GPR98 84059 broad.mit.edu 37 5 89990008 89990008 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:89990008T>C uc003kju.2 + 33 7531 c.7435T>C c.(7435-7437)TTC>CTC p.F2479L GPR98_uc003kjt.2_Missense_Mutation_p.F185L|GPR98_uc003kjv.2_Missense_Mutation_p.F79L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2479 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAATTCAGACTTCTGGACCTA 0.493000 PCDHA11 56138 broad.mit.edu 37 5 140250309 140250309 + Missense_Mutation SNP G G A rs140203389 by1000genomes TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:140250309G>A uc003lia.2 + 1 2479 c.1621G>A c.(1621-1623)GTG>ATG p.V541M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V541M NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 541 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATGCGGGCGTGCCGCCTCT 0.687000 PCDHB3 56132 broad.mit.edu 37 5 140481632 140481632 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:140481632G>T uc003lio.2 + 1 1399 c.1399G>T c.(1399-1401)GCC>TCC p.A467S uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 467 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACAGCCCCGCCCTGCACAT 0.622000 G3BP1 10146 broad.mit.edu 37 5 151183481 151183481 + Silent SNP C C T rs144577510 byFrequency TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:151183481C>T uc003lun.2 + 12 1401 c.1230C>T c.(1228-1230)GTC>GTT p.V410V G3BP1_uc003lum.2_Silent_p.V410V|G3BP1_uc011dcu.1_Silent_p.V228V|G3BP1_uc010jhz.2_Silent_p.V228V|G3BP1_uc003luq.2_Silent_p.V78V NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 410 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GTCTGAATGTCGAAGAGAAGA 0.527000 GRIA1 2890 broad.mit.edu 37 5 153190744 153190744 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:153190744A>T uc003lva.3 + 16 3045 c.2680A>T c.(2680-2682)AGC>TGC p.S894C GRIA1_uc003luy.3_Missense_Mutation_p.S894C|GRIA1_uc003luz.3_Missense_Mutation_p.S799C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.S814C|GRIA1_uc011dcx.1_Missense_Mutation_p.S825C|GRIA1_uc011dcy.1_Missense_Mutation_p.S904C|GRIA1_uc011dcz.1_Missense_Mutation_p.S904C NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 894 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCCTTGCATGAGCCACAGTTC 0.627000 HK3 3101 broad.mit.edu 37 5 176308331 176308331 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:176308331C>T uc003mfa.2 - 18 2691 c.2599G>A c.(2599-2601)GAT>AAT p.D867N HK3_uc003mez.2_Missense_Mutation_p.D423N NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 867 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGTTCCATCCACCCCCACA 0.687000 ZNF354A 6940 broad.mit.edu 37 5 178154048 178154048 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:178154048A>C uc003mjj.2 - 3 310 c.112T>G c.(112-114)TTG>GTG p.L38V NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 38 KRAB. 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) TCCCGGTACAAGTTTCTCTGA 0.473000 ZNF454 285676 broad.mit.edu 37 5 178392722 178392722 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:178392722T>G uc003mjo.1 + 5 1588 c.1317T>G c.(1315-1317)CCT>CCG p.P439P ZNF454_uc010jkz.1_Silent_p.P439P NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GGGAAAAACCTTATACATGTA 0.403000 HDGFL1 154150 broad.mit.edu 37 6 22569833 22569833 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:22569833A>T uc003nds.2 + 1 156 c.29A>T c.(28-30)AAG>ATG p.K10M NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 10 0 Ovarian(93;0.163) CCCATGTACAAGAGCGGGGAC 0.617000 OR5V1 81696 broad.mit.edu 37 6 29323304 29323304 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:29323304G>A uc011dlo.1 - 1 751 c.669C>T c.(667-669)TCC>TCT p.S223S NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 TCAAGATGGTGGAGATTATGC 0.473000 POLH 5429 broad.mit.edu 37 6 43571749 43571749 + Splice_Site SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:43571749G>C uc003ovq.3 + 7 1188 c.884_splice c.e7+1 p.G295_splice POLH_uc010jyu.2_Splice_Site_p.G171_splice|POLH_uc011dvl.1_Splice_Site|POLH_uc003ovr.3_Splice_Site_p.G196_splice NM_006502 NP_006493 Q9Y253 POLH_HUMAN DNA-directed DNA polymerase eta DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(2) 2 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGAAGAATGGGTAAGTGATTC 0.378000 DNA_polymerases_(catalytic_subunits) Xeroderma_Pigmentosum TBX18 9096 broad.mit.edu 37 6 85448259 85448259 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:85448259A>G uc003pkl.1 - 7 1055 c.1055T>C c.(1054-1056)CTA>CCA p.L352P TBX18_uc010kbq.1_Missense_Mutation_p.L194P NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 352 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CAGAGTCCGTAGTGATGGTCG 0.463000 SYNE1 23345 broad.mit.edu 37 6 152651961 152651961 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:152651961A>C uc010kiw.2 - 78 14461 c.13859T>G c.(13858-13860)CTT>CGT p.L4620R SYNE1_uc003qot.3_Missense_Mutation_p.L4549R|SYNE1_uc003qou.3_Missense_Mutation_p.L4620R|SYNE1_uc010kiz.2_Missense_Mutation_p.L375R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4620 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCAGCGTAAGTAGAAGATT 0.388000 HNSCC(10;0.0054) VIP 7432 broad.mit.edu 37 6 153078245 153078245 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:153078245C>G uc003qpe.2 + 6 654 c.482C>G c.(481-483)TCT>TGT p.S161C VIP_uc003qpf.2_Missense_Mutation_p.S160C|VIP_uc010kjd.2_Missense_Mutation_p.S159C NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 161 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) GAGGGAGAATCTCCCGACTTT 0.408000 RBM16 22828 broad.mit.edu 37 6 155139625 155139625 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr6:155139625C>T uc003qqa.2 + 15 1766 c.1534C>T c.(1534-1536)CGG>TGG p.R512W RBM16_uc011efj.1_Missense_Mutation_p.R578W|RBM16_uc011efk.1_Missense_Mutation_p.R557W|RBM16_uc003qpz.2_Missense_Mutation_p.R512W|RBM16_uc010kji.2_Missense_Mutation_p.R533W NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 512 RRM. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) GATTCCTCCCCGGGGCTGTGC 0.353000 GRM3 2913 broad.mit.edu 37 7 86415890 86415890 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:86415890G>A uc003uid.2 + 3 1881 c.782G>A c.(781-783)CGA>CAA p.R261Q GRM3_uc010lef.2_Missense_Mutation_p.R259Q|GRM3_uc010leg.2_Missense_Mutation_p.R133Q|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 261 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGCGTGATCCGAGAACTGTTG 0.652000 KIAA1324L 222223 broad.mit.edu 37 7 86541447 86541447 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:86541447A>C uc011kha.1 - 15 2295 c.2110T>G c.(2110-2112)TTC>GTC p.F704V KIAA1324L_uc003uif.1_Missense_Mutation_p.F464V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.F590V|KIAA1324L_uc003uie.2_Missense_Mutation_p.F537V NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 704 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TTGGAGGTGAAGCTGGGGCCA 0.413000 ZNF804B 219578 broad.mit.edu 37 7 88963199 88963199 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:88963199A>C uc011khi.1 + 4 1441 c.903A>C c.(901-903)AAA>AAC p.K301N NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 301 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAACTCTAAAATTTTGCAAG 0.343000 HNSCC(36;0.09) ZNF804B 219578 broad.mit.edu 37 7 88963252 88963252 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:88963252G>A uc011khi.1 + 4 1494 c.956G>A c.(955-957)GGC>GAC p.G319D NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 319 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GATTCAATTGGCATTCATGCT 0.338000 HNSCC(36;0.09) COL1A2 1278 broad.mit.edu 37 7 94058685 94058685 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:94058685A>C uc003ung.1 + 51 4368 c.3897A>C c.(3895-3897)GAA>GAC p.E1299D COL1A2_uc011kib.1_Missense_Mutation_p.E151D NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1299 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ATGATGTTGAACTTGTTGCTG 0.443000 HNSCC(75;0.22) DOCK4 9732 broad.mit.edu 37 7 111381267 111381267 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:111381267C>T uc003vfx.2 - 46 5165 c.4896G>A c.(4894-4896)CCG>CCA p.P1632P DOCK4_uc011kml.1_Silent_p.P513P|DOCK4_uc011kmm.1_Silent_p.P539P|DOCK4_uc003vfw.2_Silent_p.P1082P|DOCK4_uc003vfy.2_Silent_p.P1677P|DOCK4_uc003vfv.2_5'Flank NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1632 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GGTAACTTAACGGGCTGTTTC 0.418000 CLEC5A 23601 broad.mit.edu 37 7 141643744 141643744 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr7:141643744T>G uc003vwv.1 - 4 357 c.160A>C c.(160-162)AGT>CGT p.S54R CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Missense_Mutation_p.S54R|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN C-type lectin, superfamily member 5 54 Extracellular (Potential). anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity 0 Melanoma(164;0.0171) CTTGGGGAACTGCTCCCAAAA 0.438000 CSMD1 64478 broad.mit.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:3087592A>C uc011kwk.1 - 27 4708 c.4318T>G c.(4318-4320)TTT>GTT p.F1440V CSMD1_uc011kwj.1_Missense_Mutation_p.F832V|CSMD1_uc003wqe.2_Missense_Mutation_p.F596V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1440 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTTGCCAAAAGAACCGGTTA 0.473000 CYP7B1 9420 broad.mit.edu 37 8 65509467 65509467 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:65509467A>C uc003xvj.2 - 6 1457 c.1253T>G c.(1252-1254)TTT>TGT p.F418C NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 418 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) ATCTTCTATAAAACGATCATA 0.358000 PREX2 80243 broad.mit.edu 37 8 69046425 69046425 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:69046425A>C uc003xxv.1 + 32 3925 c.3898A>C c.(3898-3900)ACT>CCT p.T1300P NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1300 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TGAGATGGAAACTTGGGAAGC 0.488000 WWP1 11059 broad.mit.edu 37 8 87473501 87473501 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:87473501G>C uc003ydt.2 + 23 2828 c.2548G>C c.(2548-2550)GTC>CTC p.V850L NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 850 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 ATTGCAGTTCGTCACTGGAAC 0.343000 PKHD1L1 93035 broad.mit.edu 37 8 110451303 110451303 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:110451303G>C uc003yne.2 + 32 4042 c.3938G>C c.(3937-3939)TGG>TCG p.W1313S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1313 Extracellular (Potential).|IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCAGAAACTGGGGTTTTGCA 0.398000 HNSCC(38;0.096) TRPS1 7227 broad.mit.edu 37 8 116632071 116632071 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:116632071T>G uc003ynz.2 - 2 674 c.215A>C c.(214-216)AAG>ACG p.K72T TRPS1_uc011lhy.1_Missense_Mutation_p.K76T|TRPS1_uc003yny.2_Missense_Mutation_p.K85T|TRPS1_uc010mcy.2_Missense_Mutation_p.K72T NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 72 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAAGTCCTTCTTACTGCTAGA 0.448000 Langer-Giedion_syndrome COL14A1 7373 broad.mit.edu 37 8 121222071 121222071 + Silent SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:121222071G>T uc003yox.2 + 12 1663 c.1398G>T c.(1396-1398)GTG>GTT p.V466V COL14A1_uc003yoy.2_Silent_p.V144V|COL14A1_uc010mde.1_Silent_p.V144V NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 466 Fibronectin type-III 3. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGGATGCAGTGCCTGGGGCCT 0.473000 PLEC 5339 broad.mit.edu 37 8 145002133 145002133 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:145002133G>A uc003zaf.1 - 26 3869 c.3699C>T c.(3697-3699)CGC>CGT p.R1233R PLEC_uc003zab.1_Silent_p.R1096R|PLEC_uc003zac.1_Silent_p.R1100R|PLEC_uc003zad.2_Silent_p.R1096R|PLEC_uc003zae.1_Silent_p.R1064R|PLEC_uc003zag.1_Silent_p.R1074R|PLEC_uc003zah.2_Silent_p.R1082R|PLEC_uc003zaj.2_Silent_p.R1123R NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1233 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCTGCGTGCCGCGGATCACCA 0.687000 VPS13A 23230 broad.mit.edu 37 9 79842333 79842333 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr9:79842333G>A uc004akr.2 + 16 1644 c.1384G>A c.(1384-1386)GAA>AAA p.E462K VPS13A_uc004akp.3_Missense_Mutation_p.E462K|VPS13A_uc004akq.3_Missense_Mutation_p.E462K|VPS13A_uc004aks.2_Missense_Mutation_p.E462K NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 462 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GACACCTGAAGAAAAAGCTTT 0.303000 PSAT1 29968 broad.mit.edu 37 9 80919766 80919766 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr9:80919766G>A uc004ala.2 + 4 375 c.307G>A c.(307-309)GTG>ATG p.V103M PSAT1_uc004alb.2_Missense_Mutation_p.V103M NM_058179 NP_478059 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 isoform 1 103 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TGACTATGTGGTGACAGGAGC 0.473000 PTCHD1 139411 broad.mit.edu 37 X 23411256 23411256 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:23411256T>C uc004dal.3 + 3 1629 c.1621T>C c.(1621-1623)TAC>CAC p.Y541H NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 541 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 AACCATTGAGTACACTACTGC 0.408000 CXorf22 170063 broad.mit.edu 37 X 35971836 35971836 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:35971836A>G uc004ddj.2 + 7 1233 c.1174A>G c.(1174-1176)AGT>GGT p.S392G CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 392 large_intestine(1)|lung(1)|ovary(1) 3 AACCATCAAAAGTAAGTGTGA 0.294000 TRO 7216 broad.mit.edu 37 X 54953054 54953054 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:54953054C>A uc004dtq.2 + 9 1803 c.1696C>A c.(1696-1698)CCT>ACT p.P566T TRO_uc004dts.2_Missense_Mutation_p.P566T|TRO_uc004dtr.2_Missense_Mutation_p.P566T|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.P169T|TRO_uc011mok.1_Missense_Mutation_p.P97T|TRO_uc004dtw.2_Missense_Mutation_p.P169T|TRO_uc004dtx.2_5'UTR NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 566 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GGGGCTGCGCCCTGGGTATGA 0.577000 MTMR8 55613 broad.mit.edu 37 X 63569939 63569939 + Silent SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:63569939G>C uc004dvs.2 - 5 548 c.480C>G c.(478-480)ACC>ACG p.T160T MTMR8_uc011mou.1_Silent_p.T160T|MTMR8_uc004dvt.1_Silent_p.T160T NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 160 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CAGGAGGGTAGGTGCTGCATA 0.348000 NAP1L2 4674 broad.mit.edu 37 X 72433060 72433060 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:72433060T>G uc004ebi.2 - 1 1625 c.1269A>C c.(1267-1269)GAA>GAC p.E423D NAP1L2_uc011mqj.1_Missense_Mutation_p.E281D NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 423 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) CATCATTAACTTCTCTAACTA 0.348000 KIAA2022 340533 broad.mit.edu 37 X 73959940 73959940 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:73959940T>G uc004eby.2 - 3 5069 c.4452A>C c.(4450-4452)AAA>AAC p.K1484N NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1484 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 ATTACCTCAGTTTTTCAAAAG 0.478000 KIAA2022 340533 broad.mit.edu 37 X 73962104 73962104 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:73962104A>C uc004eby.2 - 3 2905 c.2288T>G c.(2287-2289)GTT>GGT p.V763G NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 763 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CCCAGGAATAACTTCATTCTT 0.413000 DCAF12L1 139170 broad.mit.edu 37 X 125685428 125685428 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:125685428G>A uc004eul.2 - 1 1415 c.1164C>T c.(1162-1164)TCC>TCT p.S388S NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 388 skin(3)|ovary(1) 4 CCAGGGTGGCGGAGGCTCTTT 0.582000 MAGEC3 139081 broad.mit.edu 37 X 140953339 140953339 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chrX:140953339G>C uc011mwp.1 + 2 206 c.206G>C c.(205-207)GGA>GCA p.G69A NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 69 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGAGGGGTGGAACTTCAGAT 0.493000 LEPROTL1 23484 broad.mit.edu 37 8 29961840 29961841 + Frame_Shift_Ins INS - - T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:29961840_29961841insT uc003xhw.3 + 3 224_225 c.117_118insT c.(115-120)CTATTTfs p.L39fs LEPROTL1_uc003xhx.2_Frame_Shift_Ins_p.L39fs NM_015344 NP_056159 O95214 LERL1_HUMAN leptin receptor overlapping transcript-like 1 39_40 Helical; (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TCTTTGTTCTATTTTTTTACAT 0.322 CDC42BPA 8476 broad.mit.edu 37 1 227222430 227222430 + Frame_Shift_Del DEL T T - TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr1:227222429_227222429GT>G uc001hqr.3 - 24 4241 c.3298_3298AC>C c.(3298-3300)ctcfs p.L1100fs CDC42BPA_uc001hqq.3_Frame_Shift_Del_p.L399fs|CDC42BPA_uc001hqs.3_Frame_Shift_Del_p.L1019fs|CDC42BPA_uc009xes.3_Frame_Shift_Del_p.L1072fs|CDC42BPA_uc010pvs.2_Frame_Shift_Del_p.L1080fs|CDC42BPA_uc001hqp.3_Frame_Shift_Del_p.L256fs|CDC42BPA_uc001hqt.2_5'UTR|CDC42BPA_uc001hqu.1_Frame_Shift_Del_p.L307fs NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 1113 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TACAGAAAGAGTTTGAAGTCA 0.403 C5orf24 134553 broad.mit.edu 37 5 134190974 134190974 + Frame_Shift_Del DEL A A - TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr5:134190973_134190973CA>C uc003kzx.3 + 1 444 c.383_383CA>C c.(382-384)acafs p.T128fs C5orf24_uc003kzy.4_Frame_Shift_Del_p.T128fs|C5orf24_uc003kzz.3_Frame_Shift_Del_p.T128fs|C5orf24_uc021yds.1_Frame_Shift_Del_p.T128fs NM_152409 NP_689622 Q7Z6I8 CE024_HUMAN Homo sapiens chromosome 5 open reading frame 24 (C5orf24), transcript variant 2, mRNA. 128 breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCTTTGGGGACAACTAAAGCT 0.542 LEPROTL1 23484 broad.mit.edu 37 8 29961841 29961842 + Frame_Shift_Ins INS - - T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr8:29961840_29961841A>AT uc003xhx.2 + 2 224_225 c.117_118A>AT c.(115-120)ctatttfs p.L39fs MIR548O2_uc022atm.1_Intron|LEPROTL1_uc003xhw.4_Frame_Shift_Ins_p.L39fs NM_001128208 NP_001121680 O95214 LERL1_HUMAN Homo sapiens leptin receptor overlapping transcript-like 1 (LEPROTL1), transcript variant 2, mRNA. 39 integral to membrane endometrium(1)|kidney(1)|large_intestine(3) 5 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TCTTTGTTCTATTTTTTTACAT 0.322 NSFL1C 55968 broad.mit.edu 37 20 1426465 1426466 + Frame_Shift_Ins INS - - G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa g.chr20:1426464_1426465T>TG uc002wfc.3 - 7 1664_1665 c.796_797A>CA c.(796-798)cagfs p.Q266fs NSFL1C_uc021vzq.1_Frame_Shift_Ins_p.Q152fs|NSFL1C_uc002wfe.3_Frame_Shift_Ins_p.Q235fs NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA. 266 Golgi stack|chromosome|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACTCAACACCTGGGGGGCAGTG 0.510