Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample VPS13D 55187 broad.mit.edu 37 1 12422812 12422812 + Missense_Mutation SNP A A T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:12422812A>T uc001atv.2 + 51 10319 c.10178A>T c.(10177-10179)GAT>GTT p.D3393V VPS13D_uc001atw.2_Missense_Mutation_p.D3368V|VPS13D_uc001atx.2_Missense_Mutation_p.D2580V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3392 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGATACATTGATACCTGCATG 0.428 NaN 0 0 0 0.048971 0 68 142 C1orf144 26099 broad.mit.edu 37 1 16721628 16721628 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:16721628G>A uc001aym.3 + 4 622 c.452G>A c.(451-453)CGC>CAC p.R151H C1orf144_uc010ocb.1_Silent_p.A114A|C1orf144_uc001ayi.3_Missense_Mutation_p.R132H|C1orf144_uc001ayk.3_Missense_Mutation_p.R131H NM_001114600 NP_001108072 Q7Z422 CA144_HUMAN putative MAPK activating protein PM20,PM21 151 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TTCAAACAGCGCAGATAAATG 0.582 NaN 0 0 0 0.021553 0 5 16 NBPF1 55672 broad.mit.edu 37 1 16918403 16918403 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:16918403G>C uc009vos.1 - 7 1002 c.114C>G c.(112-114)CTC>CTG p.L38L NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 38 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ATTTCTCTTTGAGGTTTCTGA 0.468 NaN 0 0 0 0.048971 0 49 809 UBR4 23352 broad.mit.edu 37 1 19441918 19441918 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:19441918C>T uc001bbi.2 - 74 11041 c.11037G>A c.(11035-11037)GAG>GAA p.E3679E UBR4_uc001bbj.1_Silent_p.E94E NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3679 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTACACATTCTCTCCACAGT 0.517 NaN 0 0 0 0.038395 0 17 35 PPIE 10450 broad.mit.edu 37 1 40214727 40214727 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:40214727G>A uc001cds.1 + 8 704 c.661G>A c.(661-663)GAT>AAT p.D221N PPIE_uc001cdt.1_Missense_Mutation_p.D155N|PPIE_uc010oiy.1_Missense_Mutation_p.D142N|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.D221N|PPIE_uc001cdw.2_Missense_Mutation_p.D221N|PPIE_uc001cdx.1_Missense_Mutation_p.D137N NM_006112 NP_006103 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E isoform 1 221 PPIase cyclophilin-type. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding 0 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAAGTTCGATGATGAAAACTT 0.557 NaN 0 0 0 0.050027 0 31 32 CDC14A 8556 broad.mit.edu 37 1 100920981 100920981 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:100920981C>T uc001dtg.3 + 8 1028 c.540C>T c.(538-540)TTC>TTT p.F180F CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Silent_p.F122F|CDC14A_uc001dte.3_Silent_p.F180F|CDC14A_uc001dtf.2_Silent_p.F180F|CDC14A_uc009wed.1_Intron|CDC14A_uc009wee.2_Silent_p.F180F NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 180 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) ATGGTGACTTCAACTGGATTG 0.303 NaN 0 0 0 0.108266 0 27 38 C1orf161 126868 broad.mit.edu 37 1 116670903 116670903 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:116670903G>A uc001egc.1 + 6 1063 c.798G>A c.(796-798)CTG>CTA p.L266L NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 266 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) TGAGGCACCTGAAGGAGGACA 0.587 NaN 0 0 0 0.009096 0 4 23 NBPF9 400818 broad.mit.edu 37 1 144619399 144619399 + Silent SNP G G A rs4067645 by1000genomes TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:144619399G>A uc009wig.1 + 7 622 c.546G>A c.(544-546)GTG>GTA p.V182V NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Silent_p.V182V|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Silent_p.V113V|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Silent_p.V113V|NBPF9_uc010oyg.1_Silent_p.V147V|NBPF9_uc009wii.1_Intron NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 182 NBPF 1. cytoplasm 0 ATGAGAAAGTGCAGAAATCAT 0.413 NaN 0 0 0 0.024245 0 5 230 PDE4DIP 9659 broad.mit.edu 37 1 144923818 144923818 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:144923818T>C uc001elw.3 - 6 931 c.640A>G c.(640-642)ATG>GTG p.M214V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280V|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 214 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTTCAGTCATGGGCTAGGAA 0.403 NaN T PDGFRB MPD 0 0 0 0.043863 0 19 103 FAM63A 55793 broad.mit.edu 37 1 150974829 150974829 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:150974829C>G uc001ewf.2 - 3 1949 c.265G>C c.(265-267)GAG>CAG p.E89Q FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_5'UTR|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.E137Q|FAM63A_uc001ewg.2_Missense_Mutation_p.E89Q NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 89 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTATTGTCTCTACTTCAGGC 0.582 NaN 0 0 0 0.069288 0 23 39 IQGAP3 128239 broad.mit.edu 37 1 156503868 156503868 + Nonsense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:156503868G>C uc001fpf.2 - 30 3881 c.3806C>G c.(3805-3807)TCA>TGA p.S1269* NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1269 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CACCATGTCTGAGTACTCGTC 0.607 NaN 0 0 0 0.030593 0 26 47 OLFML2B 25903 broad.mit.edu 37 1 161968053 161968053 + Missense_Mutation SNP T T A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:161968053T>A uc001gbu.2 - 6 1460 c.1036A>T c.(1036-1038)ACC>TCC p.T346S OLFML2B_uc010pkq.1_Missense_Mutation_p.T347S NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 346 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGCCTCCGGGTGACACTGGTC 0.567 NaN 0 0 0 0.083992 0 26 70 TNFSF4 7292 broad.mit.edu 37 1 173176222 173176222 + Nonsense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:173176222G>A uc001giw.2 - 1 250 c.94C>T c.(94-96)CAG>TAG p.Q32* TNFSF4_uc001giv.2_5'Flank NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 32 Helical; Signal-anchor for type II membrane protein; (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 CCCAGTCCCTGAATTACAGAG 0.537 NaN 0 0 0 0.020292 0 15 35 HMCN1 83872 broad.mit.edu 37 1 186113383 186113383 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:186113383G>A uc001grq.1 + 90 14232 c.14003G>A c.(14002-14004)AGA>AAA p.R4668K HMCN1_uc001grs.1_Missense_Mutation_p.R237K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4668 TSP type-1 3. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACAAGAGCAAGACTTTGTAAT 0.478 NaN 0 0 0 0.080422 0 37 106 TPR 7175 broad.mit.edu 37 1 186324850 186324850 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:186324850T>C uc001grv.2 - 16 2236 c.1939A>G c.(1939-1941)ACA>GCA p.T647A NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 647 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GTCTGTGATGTACTTGGACGT 0.398 NaN T NTRK1 papillary thyroid 0 0 0 0.041601 0 31 53 CACNA1S 779 broad.mit.edu 37 1 201060841 201060841 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:201060841G>C uc001gvv.2 - 5 848 c.621C>G c.(619-621)GTC>GTG p.V207V NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 207 Helical; Name=S5 of repeat I; (Potential).|I. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CATAGATGATGACCATAAAGA 0.562 NaN 0 0 0 0.105934 0 14 45 PTPN7 5778 broad.mit.edu 37 1 202124738 202124738 + Splice_Site SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:202124738C>T uc001gxm.1 - 5 523 c.392_splice c.e5-1 p.N131_splice PTPN7_uc001gxl.1_Splice_Site_p.N170_splice|PTPN7_uc001gxn.1_Splice_Site_p.N131_splice|PTPN7_uc010ppv.1_Splice_Site|PTPN7_uc010ppw.1_Splice_Site_p.N79_splice|PTPN7_uc010ppx.1_Splice_Site_p.N205_splice|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Splice_Site_p.N83_splice NM_002832 NP_002823 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity skin(1) 1 CTCTGGGGATCTAGGAAATAA 0.527 NaN 0 0 0 0.047766 0 7 20 C4BPA 722 broad.mit.edu 37 1 207300089 207300089 + Missense_Mutation SNP T T A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:207300089T>A uc001hfo.2 + 7 932 c.738T>A c.(736-738)CAT>CAA p.H246Q NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 246 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ATGTTTCACATGGGGAAATGG 0.378 NaN 0 0 0 0.069456 0 30 80 PTPN14 5784 broad.mit.edu 37 1 214557171 214557171 + Missense_Mutation SNP G G A rs139115216 by1000genomes TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:214557171G>A uc001hkk.1 - 13 2298 c.2027C>T c.(2026-2028)CCG>CTG p.P676L PTPN14_uc010pty.1_Missense_Mutation_p.P577L NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 676 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTCCTCGGGCGGTCCCTGCTC 0.632 NaN 0 0 0 0.028581 0 16 27 H3F3A 3020 broad.mit.edu 37 1 226252162 226252162 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:226252162A>G uc001hpw.2 + 2 225 c.110A>G c.(109-111)AAG>AGG p.K37R H3F3A_uc010pvl.1_Missense_Mutation_p.K37R NM_005324 NP_005315 P84243 H33_HUMAN H3 histone, family 3B 37 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding 0 Breast(184;0.179) GBM - Glioblastoma multiforme(131;0.203) GGAGGGGTGAAGAAACCTCAT 0.448 NaN OREG0014293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.047766 0 9 28 PSEN2 5664 broad.mit.edu 37 1 227071519 227071519 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:227071519G>A uc009xeo.1 + 5 682 c.255G>A c.(253-255)GCG>GCA p.A85A PSEN2_uc009xep.1_Silent_p.A85A|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 85 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) AATACGGAGCGAAGCACGTGA 0.582 NaN 0 0 0 0.049695 0 19 50 BMI1 648 broad.mit.edu 37 10 22616891 22616891 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:22616891C>G uc001irh.2 + 6 968 c.329C>G c.(328-330)TCT>TGT p.S110C BMI1_uc009xkg.2_Missense_Mutation_p.S253C NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 110 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 GCCAATGGCTCTAATGAAGAT 0.308 NaN 0 0 0 0.028581 0 15 63 ARMC3 219681 broad.mit.edu 37 10 23321935 23321935 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:23321935C>T uc001irm.3 + 18 2475 c.2392C>T c.(2392-2394)CGA>TGA p.R798* ARMC3_uc010qcv.1_Nonsense_Mutation_p.R791*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.R535* NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 798 binding 0 CTTCTACCATCGAGCTTTGCT 0.363 NaN 0 0 0 0.076483 0 20 43 RASGEF1A 221002 broad.mit.edu 37 10 43701441 43701441 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:43701441C>T uc001jap.1 - 2 205 c.124G>A c.(124-126)GAT>AAT p.D42N RASGEF1A_uc001jao.1_Missense_Mutation_p.D50N NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 42 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AGGTGTCCATCTTGGAAGATG 0.647 NaN 0 0 0 0.058154 0 10 12 ASAH2 56624 broad.mit.edu 37 10 51974561 51974561 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:51974561C>T uc001jjd.2 - 8 1082 c.1082G>A c.(1081-1083)CGT>CAT p.R361H ASAH2_uc009xos.2_Missense_Mutation_p.R361H NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 361 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 GTTGATGCAACGTGGTCCAAG 0.448 NaN 0 0 0 0.069288 0 19 28 DDIT4 54541 broad.mit.edu 37 10 74034918 74034918 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:74034918C>T uc001jsx.1 + 3 873 c.671C>T c.(670-672)TCG>TTG p.S224L NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 224 apoptosis pancreas(1) 1 CTGTACAGCTCGGAACAGCTG 0.567 NaN OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014758 0 5 10 CYP26A1 1592 broad.mit.edu 37 10 94836820 94836820 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:94836820G>A uc001kil.2 + 7 1298 c.1253G>A c.(1252-1254)CGA>CAA p.R418Q CYP26A1_uc001kik.1_Missense_Mutation_p.R349Q|CYP26A1_uc001kim.1_Missense_Mutation_p.R316Q NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 418 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) AATCCTGACCGATTCATGCTG 0.448 NaN 0 0 0 0.0333 0 17 51 CYP2E1 1571 broad.mit.edu 37 10 135350733 135350733 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:135350733C>T uc001lnj.1 + 7 1167 c.1134C>T c.(1132-1134)TTC>TTT p.F378F CYP2E1_uc001lnk.1_Silent_p.F241F|CYP2E1_uc009ybl.1_Silent_p.F179F|CYP2E1_uc009ybm.1_Silent_p.F32F|CYP2E1_uc001lnl.1_Silent_p.F179F NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 378 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) ACACCATTTTCAGAGGATACC 0.542 NaN Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 0 0 0 0.055883 0 19 27 SMPD1 6609 broad.mit.edu 37 11 6413286 6413286 + Missense_Mutation SNP C C T rs142476839 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:6413286C>T uc001mcw.2 + 2 1165 c.991C>T c.(991-993)CCC>TCC p.P331S SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.P331S|SMPD1_uc009yew.2_Missense_Mutation_p.P330S NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 329 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TAGCTTCCCTCCCCCCTTCAT 0.612 NaN 0 0 0 0.024245 0 13 25 OR10A6 390093 broad.mit.edu 37 11 7949563 7949563 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:7949563A>G uc010rbh.1 - 1 647 c.647T>C c.(646-648)TTG>TCG p.L216S NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATGTAAGACAAGAGTATCAA 0.438 NaN 0 0 0 0.043863 0 18 43 BEST1 7439 broad.mit.edu 37 11 61727388 61727388 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:61727388A>G uc001nss.2 + 9 1553 c.973A>G c.(973-975)ATG>GTG p.M325V BEST1_uc010rlq.1_Silent_p.R332R|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nsr.2_Missense_Mutation_p.M265V|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.M265V|BEST1_uc001nst.2_Missense_Mutation_p.M238V|BEST1_uc010rlu.1_Silent_p.R286R|BEST1_uc010rlv.1_Missense_Mutation_p.M219V NM_004183 NP_004174 O76090 BEST1_HUMAN bestrophin 1 isoform 1 325 Cytoplasmic (Potential). M -> T (in ARB). response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity central_nervous_system(1) 1 TGTGGATGAGATGCACCAGGA 0.572 NaN 0 0 0 0.004672 0 2 7 CCDC87 55231 broad.mit.edu 37 11 66359214 66359214 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:66359214G>A uc001oiq.3 - 1 1341 c.1273C>T c.(1273-1275)CAC>TAC p.H425Y CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 425 ovary(1)|skin(1) 2 GGCTGTGGGTGAAGTGGAAAG 0.552 NaN 0 0 0 0.038395 0 18 39 KIAA1826 84437 broad.mit.edu 37 11 105880796 105880796 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:105880796T>C uc001piy.2 - 3 677 c.504A>G c.(502-504)ATA>ATG p.I168M KIAA1826_uc001piz.2_Missense_Mutation_p.I168M NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 168 nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) TGGAATCTGGTATGACGGATG 0.393 NaN 0 0 0 0.064281 0 35 57 MLL 4297 broad.mit.edu 37 11 118374132 118374132 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:118374132G>A uc001pta.2 + 27 7539 c.7516G>A c.(7516-7518)GAA>AAA p.E2506K MLL_uc001ptb.2_Missense_Mutation_p.E2509K NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2506 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CATGCAAGTAGAAGGATCTGC 0.448 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.105934 0 13 31 MLL 4297 broad.mit.edu 37 11 118374590 118374590 + Missense_Mutation SNP G G C rs142807735 byFrequency TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:118374590G>C uc001pta.2 + 27 7997 c.7974G>C c.(7972-7974)AAG>AAC p.K2658N MLL_uc001ptb.2_Missense_Mutation_p.K2661N NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2658 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGCGAGGCAAGAGATCAGCTG 0.443 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.069234 0 9 31 MLL 4297 broad.mit.edu 37 11 118375131 118375131 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:118375131G>A uc001pta.2 + 27 8538 c.8515G>A c.(8515-8517)GAT>AAT p.D2839N MLL_uc001ptb.2_Missense_Mutation_p.D2842N NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2839 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TAACAACAGTGATGACTGTGG 0.448 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.069456 0 37 93 PUS7L 83448 broad.mit.edu 37 12 44124323 44124323 + Silent SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr12:44124323T>C uc001rnq.3 - 9 2451 c.1962A>G c.(1960-1962)CAA>CAG p.Q654Q PUS7L_uc001rnr.3_Silent_p.Q654Q|PUS7L_uc001rns.3_Silent_p.Q654Q|PUS7L_uc009zkb.2_Silent_p.Q341Q NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 654 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CTTCCATTAGTTGGTATGAGA 0.368 NaN 0 0 0 0.074837 0 34 92 SLC4A8 9498 broad.mit.edu 37 12 51868160 51868160 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr12:51868160C>T uc001rys.1 + 15 2117 c.1939C>T c.(1939-1941)CAC>TAC p.H647Y SLC4A8_uc010sni.1_Missense_Mutation_p.H594Y|SLC4A8_uc001rym.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryn.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryo.2_Missense_Mutation_p.H594Y|SLC4A8_uc010snj.1_Missense_Mutation_p.H674Y|SLC4A8_uc001ryq.3_Missense_Mutation_p.H647Y|SLC4A8_uc001ryr.2_Missense_Mutation_p.H647Y|SLC4A8_uc010snk.1_Missense_Mutation_p.H594Y NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 647 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TCCAAACAATCACACCCTCCA 0.458 NaN 0 0 0 0.047766 0 9 30 MYCBP2 23077 broad.mit.edu 37 13 77743819 77743819 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr13:77743819G>A uc001vkf.2 - 40 5802 c.5711C>T c.(5710-5712)TCC>TTC p.S1904F MYCBP2_uc010aev.2_Missense_Mutation_p.S1308F NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1904 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAACAGACTGGAAGAACTCAG 0.383 NaN 0 0 0 0.043863 0 18 66 RTN1 6252 broad.mit.edu 37 14 60212834 60212834 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr14:60212834C>T uc001xen.1 - 2 816 c.607G>A c.(607-609)GAG>AAG p.E203K NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 203 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TTCACCTCCTCGGGTCTGGTT 0.453 NaN 0 0 0 0.048971 0 70 138 SNX22 79856 broad.mit.edu 37 15 64446590 64446590 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr15:64446590G>C uc002anc.1 + 7 524 c.465G>C c.(463-465)TCG>TCC p.S155S SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA NM_024798 NP_079074 Q96L94 SNX22_HUMAN sorting nexin 22 155 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 CCACAGAGTCGCTGCCCAACG 0.602 NaN OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.049695 0 19 111 SNX33 257364 broad.mit.edu 37 15 75941596 75941596 + Missense_Mutation SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr15:75941596T>G uc002bau.2 + 1 249 c.153T>G c.(151-153)TTT>TTG p.F51L IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 51 SH3. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 CAGGGCTCTTTCCTGCCTCTT 0.587 NaN 0 0 0 0.076483 0 23 61 IFT140 9742 broad.mit.edu 37 16 1616196 1616196 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:1616196C>G uc002cmb.2 - 16 2229 c.1867G>C c.(1867-1869)GAG>CAG p.E623Q IFT140_uc002clz.2_Missense_Mutation_p.E274Q NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 623 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GACAGCGTCTCTCTCCGATCA 0.428 NaN 0 0 0 0.048971 0 57 135 C16orf59 80178 broad.mit.edu 37 16 2510687 2510687 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:2510687C>T uc002cqh.2 + 3 220 c.189C>T c.(187-189)CCC>CCT p.P63P C16orf59_uc002cqf.1_Silent_p.P63P|C16orf59_uc002cqg.1_5'UTR|C16orf59_uc002cqi.2_5'UTR|C16orf59_uc010uwb.1_5'Flank NM_025108 NP_079384 Q7L2K0 CP059_HUMAN hypothetical protein LOC80178 63 0 Ovarian(90;0.17) GAGAGGACCCCCTTCCAGGTA 0.637 NaN 0 0 0 0.09319 0 12 16 CPPED1 55313 broad.mit.edu 37 16 12758794 12758794 + Silent SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:12758794C>G uc002dca.3 - 4 1005 c.894G>C c.(892-894)CTG>CTC p.L298L CPPED1_uc002dcb.3_Silent_p.L156L|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 298 hydrolase activity|metal ion binding 0 CTTTCTCACTCAGCTCATCTA 0.478 NaN 0 0 0 0.034045 0 26 43 C16orf88 400506 broad.mit.edu 37 16 19726111 19726111 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:19726111C>G uc002dgq.2 - 2 262 c.247G>C c.(247-249)GAA>CAA p.E83Q IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 83 Lys-rich. nucleolus 0 GTCTCAGGTTCTACATGCTCC 0.488 NaN 0 0 0 0.038395 0 16 37 CHD9 80205 broad.mit.edu 37 16 53272307 53272307 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:53272307A>G uc002ehb.2 + 11 2850 c.2686A>G c.(2686-2688)ATT>GTT p.I896V CHD9_uc002egy.2_Missense_Mutation_p.I896V|CHD9_uc002eha.1_Missense_Mutation_p.I896V|CHD9_uc002ehc.2_Missense_Mutation_p.I896V|CHD9_uc002ehf.2_Missense_Mutation_p.I10V|CHD9_uc002ehd.2_Missense_Mutation_p.I422V|CHD9_uc002ehe.1_Missense_Mutation_p.I10V NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 896 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TATTCAATCAATTACATTCCT 0.358 NaN 0 0 0 0.049695 0 18 32 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:70693984C>T uc002ezh.1 + 6 1006 c.623C>T c.(622-624)GCG>GTG p.A208V IL34_uc002ezi.1_Missense_Mutation_p.A207V NM_152456 NP_689669 Q6ZMJ4 IL34_HUMAN interleukin 34 precursor 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding central_nervous_system(1)|skin(1) 2 TTGCAGTATGCGGCCACCCAG 0.647 NaN 0 0 0 0.009096 0 4 123 HPR 3250 broad.mit.edu 37 16 72110371 72110371 + Silent SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:72110371C>G uc002fby.2 + 5 468 c.438C>G c.(436-438)CTC>CTG p.L146L TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 146 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) CTAAAAATCTCTTCCTGAACC 0.478 NaN 0 0 0 0.09319 0 13 24 C17orf81 23587 broad.mit.edu 37 17 7162148 7162148 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:7162148G>A uc002gfg.1 + 8 846 c.739G>A c.(739-741)GAT>AAT p.D247N C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.D247N|C17orf81_uc002gfi.1_Missense_Mutation_p.D247N|C17orf81_uc002gfl.1_Intron NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 CCTACAGGTGGATCCCACAAC 0.502 NaN 0 0 0 0.0333 0 18 20 C17orf81 23587 broad.mit.edu 37 17 7162193 7162193 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:7162193G>C uc002gfg.1 + 8 891 c.784G>C c.(784-786)GAG>CAG p.E262Q C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfi.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfl.1_Intron NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 GTCCAAGAAAGAGAGAGAAGC 0.512 NaN 0 0 0 0.028581 0 17 21 NCOR1 9611 broad.mit.edu 37 17 16022773 16022773 + Nonsense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:16022773G>A uc002gpo.2 - 17 2119 c.1879C>T c.(1879-1881)CGA>TGA p.R627* NCOR1_uc002gpn.2_Nonsense_Mutation_p.R627*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R518*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.R518* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 627 SANT 2. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCTGTCCATCGAGAGGTCTCC 0.333 NaN 0 0 0 0.086207 0 31 38 EPN2 22905 broad.mit.edu 37 17 19216560 19216560 + Missense_Mutation SNP C C A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:19216560C>A uc002gvd.3 + 7 1563 c.1115C>A c.(1114-1116)CCT>CAT p.P372H EPN2_uc010cql.1_Missense_Mutation_p.P81H|EPN2_uc002gve.3_Missense_Mutation_p.P315H|EPN2_uc002gvf.3_Missense_Mutation_p.P87H|EPN2_uc010vyo.1_Missense_Mutation_p.P80H|EPN2_uc002gvg.1_Missense_Mutation_p.P315H|EPN2_uc010vyp.1_Missense_Mutation_p.P308H|EPN2_uc010vyq.1_Missense_Mutation_p.P309H|EPN2_uc002gvh.1_Missense_Mutation_p.P372H|EPN2_uc002gvj.3_Missense_Mutation_p.P35H NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 372 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CCAGCGGCTCCTGCGAGTACT 0.657 NaN 1 0 2.0701e-58 0.048971 2.21903e-58 141 277 RNF112 7732 broad.mit.edu 37 17 19319463 19319463 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:19319463G>A uc010vyw.1 + 14 2070 c.1871G>A c.(1870-1872)CGA>CAA p.R624Q RNF112_uc010vyv.1_Missense_Mutation_p.R625Q NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 624 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 GAAGGGGACCGAGAGCCCCTT 0.627 NaN 0 0 0 0.069234 0 10 25 UBTF 7343 broad.mit.edu 37 17 42289089 42289089 + Missense_Mutation SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:42289089T>G uc002igb.2 - 9 999 c.932A>C c.(931-933)GAG>GCG p.E311A UBTF_uc002igc.2_Missense_Mutation_p.E274A|UBTF_uc010czs.2_Missense_Mutation_p.E311A|UBTF_uc002igd.2_Missense_Mutation_p.E274A|UBTF_uc010czt.2_Missense_Mutation_p.E311A|UBTF_uc002ige.2_Missense_Mutation_p.E274A NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 311 HMG box 3. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GGCCATGAGCTCTGCGCAGTA 0.617 NaN 0 0 0 0.080935 0 12 51 KIAA1267 284058 broad.mit.edu 37 17 44109507 44109507 + Nonsense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:44109507G>C uc002ikb.2 - 13 3081 c.2996C>G c.(2995-2997)TCA>TGA p.S999* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.S999*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.S999*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.S998*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.S330*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.S267* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 999 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) GAGGGGTGCTGAGTGCAGTTC 0.602 NaN 0 0 0 0.069234 0 11 55 COL1A1 1277 broad.mit.edu 37 17 48275121 48275121 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:48275121G>C uc002iqm.2 - 9 794 c.668C>G c.(667-669)CCA>CGA p.P223R NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 223 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) AGGGGGACCTGGGGGACCTCG 0.507 NaN T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 0 0 0 0.086207 0 36 126 PDE6G 5148 broad.mit.edu 37 17 79620333 79620333 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:79620333C>T uc002kay.3 - 2 147 c.3G>A c.(1-3)ATG>ATA p.M1I PDE6G_uc002kaz.3_Intron NM_002602 NP_002593 P18545 CNRG_HUMAN phosphodiesterase 6G 1 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity 0 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GTTCCAGGTTCATGGTGAGGC 0.662 NaN 0 0 0 0.0918 0 26 32 POLI 11201 broad.mit.edu 37 18 51818253 51818253 + Nonsense_Mutation SNP C C T rs56152401 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr18:51818253C>T uc002lfj.3 + 9 1317 c.1249C>T c.(1249-1251)CGA>TGA p.R417* POLI_uc010xds.1_Nonsense_Mutation_p.R338*|POLI_uc002lfk.3_Nonsense_Mutation_p.R314*|POLI_uc010dpg.2_Nonsense_Mutation_p.R13* NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 417 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) GAAACTTTTTCGAAATATGGT 0.308 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.069234 0 10 41 ZNF516 9658 broad.mit.edu 37 18 74091604 74091604 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr18:74091604G>A uc010dqx.1 - 3 2701 c.2466C>T c.(2464-2466)CTC>CTT p.L822L ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 822 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTTTGCCACCGAGGGCAGGCG 0.622 NaN 0 0 0 0.041601 0 31 72 ELAVL1 1994 broad.mit.edu 37 19 8046039 8046039 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:8046039G>A uc002mjb.2 - 3 371 c.204C>T c.(202-204)TAC>TAT p.Y68Y NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 68 RRM 1. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 TCGCGGTCACGTAGTTCACAA 0.532 NaN 0 0 0 0.020292 0 14 46 LPAR2 9170 broad.mit.edu 37 19 19737749 19737749 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:19737749G>A uc002nnb.3 - 2 484 c.345C>T c.(343-345)CTC>CTT p.L115L LPAR2_uc002nna.3_Silent_p.L115L|LPAR2_uc002nnc.3_Silent_p.L115L NM_004720 NP_004711 Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 115 Helical; Name=3; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding ovary(1)|breast(1) 2 CCGACGCAGTGAGGCTTGTGT 0.672 NaN 0 0 0 0.021553 0 6 6 ZNF573 126231 broad.mit.edu 37 19 38229523 38229523 + Nonsense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:38229523G>C uc002ohe.2 - 4 1890 c.1868C>G c.(1867-1869)TCA>TGA p.S623* ZNF573_uc010efs.2_Nonsense_Mutation_p.S536*|ZNF573_uc002ohd.2_Nonsense_Mutation_p.S621*|ZNF573_uc002ohf.2_Nonsense_Mutation_p.S565*|ZNF573_uc002ohg.2_Nonsense_Mutation_p.S535* NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 603 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AACAAGGTTTGAAGCACGACT 0.413 NaN 0 0 0 0.042209 0 46 77 TRPM4 54795 broad.mit.edu 37 19 49713574 49713574 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:49713574C>T uc002pmw.2 + 21 3312 c.3240C>T c.(3238-3240)ATC>ATT p.I1080I TRPM4_uc010emu.2_Silent_p.I935I|TRPM4_uc010yak.1_Silent_p.I544I|TRPM4_uc002pmx.2_Silent_p.I906I|TRPM4_uc010emv.2_Silent_p.I965I|TRPM4_uc010yal.1_Silent_p.I726I|TRPM4_uc002pmy.2_Silent_p.I422I NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 1080 Cytoplasmic (Potential).|Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGCCCTTTATCGTCATCTCCC 0.637 NaN 0 0 0 0.062417 0 20 30 LENG8 114823 broad.mit.edu 37 19 54967251 54967251 + Silent SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:54967251T>G uc002qfv.1 + 8 1164 c.1020T>G c.(1018-1020)GGT>GGG p.G340G LENG8_uc002qfw.2_Silent_p.G377G Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 340 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGGGCGGGGGTGCCCCGTCCC 0.687 NaN 0 0 0 0.058154 0 6 24 KIR3DL1 3811 broad.mit.edu 37 19 55329821 55329821 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:55329821G>A uc002qhk.3 + 3 185 c.122G>A c.(121-123)CGA>CAA p.R41Q KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.R41Q NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 41 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) GTGGTGCCTCGAGGAGGACAC 0.542 NaN 0 0 0 0.09836 0 37 54 NLRP8 126205 broad.mit.edu 37 19 56466176 56466176 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:56466176C>T uc002qmh.2 + 3 823 c.752C>T c.(751-753)ACG>ATG p.T251M NLRP8_uc010etg.2_Missense_Mutation_p.T251M NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 251 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTGAACCAGACGACAGACCAG 0.512 NaN 0 0 0 0.080422 0 38 75 GGCX 2677 broad.mit.edu 37 2 85785670 85785670 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:85785670C>T uc002sps.2 - 4 538 c.432G>A c.(430-432)CTG>CTA p.L144L GGCX_uc010yss.1_Silent_p.L16L|GGCX_uc010yst.1_Silent_p.L87L NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 144 Helical; (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) ACCAGTATGGCAGCAGGAATA 0.493 NaN 0 0 0 0.076483 0 24 44 GPR39 2863 broad.mit.edu 37 2 133174772 133174772 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:133174772C>T uc002ttl.2 + 1 626 c.157C>T c.(157-159)CGG>TGG p.R53W NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 53 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 CGCCACCATTCGGGTCACCCA 0.537 NaN 0 0 0 0.049695 0 19 32 LRP1B 53353 broad.mit.edu 37 2 141272335 141272335 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:141272335G>T uc002tvj.1 - 51 9128 c.8156C>A c.(8155-8157)TCT>TAT p.S2719Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2719 Extracellular (Potential).|LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAAGAGCAAGAAGAATCTAG 0.284 NaN TSP Lung(27;0.18) 1 0 7.03913e-09 0.09319 7.33447e-09 13 26 SP3 6670 broad.mit.edu 37 2 174783487 174783487 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:174783487C>T uc002uig.2 - 5 1830 c.1666G>A c.(1666-1668)GAT>AAT p.D556N SP3_uc002uie.2_Missense_Mutation_p.D488N|SP3_uc002uif.2_Missense_Mutation_p.D503N|SP3_uc010zel.1_Missense_Mutation_p.D553N NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 556 Repressor domain. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) TCTTCAGGATCAGGTTCTTCT 0.403 NaN 0 0 0 0.0333 0 17 39 TTN 7273 broad.mit.edu 37 2 179638034 179638034 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:179638034C>G uc010zfg.1 - 33 7881 c.7657G>C c.(7657-7659)GAG>CAG p.E2553Q TTN_uc010zfh.1_Missense_Mutation_p.E2507Q|TTN_uc010zfi.1_Missense_Mutation_p.E2507Q|TTN_uc010zfj.1_Missense_Mutation_p.E2507Q|TTN_uc002unb.2_Missense_Mutation_p.E2553Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2553 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) AGCTCAACCTCAAACACCACA 0.353 NaN 0 0 0 0.049695 0 18 33 COL5A2 1290 broad.mit.edu 37 2 189953486 189953486 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:189953486G>C uc002uqk.2 - 8 855 c.580C>G c.(580-582)CAA>GAA p.Q194E COL5A2_uc010frx.2_5'Flank NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 194 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGCCATTTGAGCTGAAAAC 0.378 NaN 0 0 0 0.108266 0 25 75 ANKAR 150709 broad.mit.edu 37 2 190593544 190593544 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:190593544A>G uc002uqw.1 + 14 2977 c.2977A>G c.(2977-2979)ATT>GTT p.I993V ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.I160V NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1064 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATCCATTTGTATTGGTTTGTA 0.393 NaN 0 0 0 0.037714 0 31 48 GTF3C3 9330 broad.mit.edu 37 2 197639909 197639909 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:197639909G>C uc002uts.2 - 13 1852 c.1762C>G c.(1762-1764)CTT>GTT p.L588V GTF3C3_uc010zgu.1_Missense_Mutation_p.L559V NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 588 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 ACTTTAATAAGATAAAGATGC 0.333 NaN 0 0 0 0.024245 0 14 37 SNRPB2 6629 broad.mit.edu 37 20 16719531 16719531 + Nonsense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:16719531C>G uc002wph.1 + 5 629 c.413C>G c.(412-414)TCA>TGA p.S138* SNRPB2_uc002wpi.1_Nonsense_Mutation_p.S138* NM_003092 NP_003083 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B'' 138 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(1) 1 CAAGGAAATTCAACACCAAAT 0.338 NaN 0 0 0 0.069234 0 8 22 CEP250 11190 broad.mit.edu 37 20 34051427 34051427 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:34051427G>C uc002xcm.2 + 6 885 c.214G>C c.(214-216)GAG>CAG p.E72Q CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 72 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGGTGCCAAGAGCTGGAGAA 0.547 NaN OREG0025891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.021553 0 5 25 BRWD1 54014 broad.mit.edu 37 21 40604198 40604198 + Nonsense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr21:40604198G>A uc002yxk.1 - 25 3044 c.2905C>T c.(2905-2907)CGA>TGA p.R969* BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Nonsense_Mutation_p.R969*|BRWD1_uc010god.1_5'Flank NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 969 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TGACCCTGTCGAAAATATATT 0.308 NaN 0 0 0 0.02938 0 6 33 GNAZ 2781 broad.mit.edu 37 22 23465561 23465561 + Silent SNP C C T rs139659965 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr22:23465561C>T uc002zwu.1 + 3 1548 c.1011C>T c.(1009-1011)TTC>TTT p.F337F RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 337 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGTTTGTCTTCGACGCGGTGA 0.562 NaN 0 0 0 0.024245 0 13 16 CCDC36 339834 broad.mit.edu 37 3 49249260 49249260 + Nonsense_Mutation SNP C C A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:49249260C>A uc003cwk.2 + 4 434 c.47C>A c.(46-48)TCA>TAA p.S16* CCDC36_uc003cwl.3_Nonsense_Mutation_p.S16*|CCDC36_uc011bck.1_Nonsense_Mutation_p.S16*|CCDC36_uc010hkt.2_RNA NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 16 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AGTATTCCTTCAGGCTCTGGG 0.239 NaN 1 0 3.7963e-18 0.083992 4.0117e-18 22 63 CCDC36 339834 broad.mit.edu 37 3 49249266 49249266 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:49249266C>T uc003cwk.2 + 4 440 c.53C>T c.(52-54)TCT>TTT p.S18F CCDC36_uc003cwl.3_Missense_Mutation_p.S18F|CCDC36_uc011bck.1_Missense_Mutation_p.S18F|CCDC36_uc010hkt.2_RNA NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 18 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCTTCAGGCTCTGGGTAAGTT 0.229 NaN 0 0 0 0.069288 0 21 61 DOCK3 1795 broad.mit.edu 37 3 51393912 51393912 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:51393912G>C uc011bds.1 + 43 4514 c.4491G>C c.(4489-4491)GAG>GAC p.E1497D NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1497 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGAAGTGGAGAGGAGGGAAC 0.542 NaN 0 0 0 0.028581 0 16 47 ARHGEF3 50650 broad.mit.edu 37 3 56787589 56787589 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:56787589G>C uc003dig.2 - 4 550 c.381C>G c.(379-381)ATC>ATG p.I127M ARHGEF3_uc011bew.1_Missense_Mutation_p.I127M|ARHGEF3_uc003dih.2_Missense_Mutation_p.I159M|ARHGEF3_uc011bev.1_Missense_Mutation_p.I98M|ARHGEF3_uc003dif.2_Missense_Mutation_p.I133M|ARHGEF3_uc010hmy.1_Translation_Start_Site|ARHGEF3_uc003dii.2_Missense_Mutation_p.I127M NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 127 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) AAAGCTCAAAGATCGCCTGCA 0.368 NaN 0 0 0 0.041601 0 27 83 ARL13B 200894 broad.mit.edu 37 3 93761858 93761858 + Splice_Site SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:93761858G>C uc003drc.2 + 7 1085 c.799_splice c.e7-1 p.N267_splice ARL13B_uc010hop.2_Splice_Site_p.N118_splice|ARL13B_uc003drd.2_Splice_Site_p.N160_splice|ARL13B_uc003dre.2_Splice_Site_p.N252_splice|ARL13B_uc003drf.2_Splice_Site_p.N267_splice|ARL13B_uc003drg.2_Splice_Site_p.N164_splice NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 GTP binding 0 TTTTTTGTTAGAATGAAGGAA 0.313 NaN 0 0 0 0.004672 0 2 6 ARL13B 200894 broad.mit.edu 37 3 93761880 93761880 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:93761880G>C uc003drc.2 + 7 1106 c.820G>C c.(820-822)GAG>CAG p.E274Q ARL13B_uc010hop.2_Missense_Mutation_p.E125Q|ARL13B_uc003drd.2_Missense_Mutation_p.E167Q|ARL13B_uc003dre.2_Missense_Mutation_p.E259Q|ARL13B_uc003drf.2_Missense_Mutation_p.E274Q|ARL13B_uc003drg.2_Missense_Mutation_p.E171Q NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 274 GTP binding 0 ACTTGAAAGAGAGAAAAAAAA 0.328 NaN 0 0 0 0.009096 0 4 10 SGEF 26084 broad.mit.edu 37 3 153840100 153840100 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:153840100C>G uc011bog.1 + 2 530 c.319C>G c.(319-321)CGA>GGA p.R107G uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R107G NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 107 Pro-rich. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGCCTCTCCTCGACTTCGACG 0.687 NaN 0 0 0 0.021553 0 5 17 VPS8 23355 broad.mit.edu 37 3 184557485 184557485 + Splice_Site SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:184557485G>A uc003fpb.1 + 7 652 c.481_splice c.e7-1 p.A161_splice VPS8_uc010hyd.1_Splice_Site_p.A161_splice|VPS8_uc003fpc.1_3'UTR NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TTTGTTTTCAGGCAGTATCCA 0.358 NaN 0 0 0 0.038147 0 7 12 TFRC 7037 broad.mit.edu 37 3 195794923 195794923 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:195794923C>T uc003fvz.3 - 8 1163 c.880G>A c.(880-882)GAA>AAA p.E294K TFRC_uc003fwa.3_Missense_Mutation_p.E294K|TFRC_uc010hzy.2_Missense_Mutation_p.E213K|TFRC_uc011btr.1_Missense_Mutation_p.E12K NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 294 Extracellular (Potential).|PA. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AATGAAAGTTCTGCGTTAACA 0.353 NaN T BCL6 NHL 0 0 0 0.02938 0 7 33 HTRA3 94031 broad.mit.edu 37 4 8288305 8288305 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:8288305G>A uc003gla.2 + 3 707 c.503G>A c.(502-504)CGC>CAC p.R168H HTRA3_uc003gkz.2_Missense_Mutation_p.R168H NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 168 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 CTGTTTGGCCGCAACGTGCCC 0.657 NaN 0 0 0 0.043863 0 16 64 METAP1 23173 broad.mit.edu 37 4 99982412 99982412 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:99982412G>C uc003huf.3 + 11 1222 c.1105G>C c.(1105-1107)GAA>CAA p.E369Q METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA NM_015143 NP_055958 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 369 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) CACTGGCTGTGAAATCCTAAC 0.512 NaN 0 0 0 0.076483 0 25 59 TET2 54790 broad.mit.edu 37 4 106156496 106156496 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:106156496C>G uc003hxk.2 + 3 1783 c.1397C>G c.(1396-1398)TCT>TGT p.S466C TET2_uc011cez.1_Missense_Mutation_p.S487C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S466C|TET2_uc003hxi.1_Missense_Mutation_p.S466C NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 466 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CCTAATCCATCTACACATGTA 0.458 NaN Mis N|F MDS 0 0 0 0.09319 0 13 35 TET2 54790 broad.mit.edu 37 4 106156625 106156625 + Nonsense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:106156625C>G uc003hxk.2 + 3 1912 c.1526C>G c.(1525-1527)TCA>TGA p.S509* TET2_uc011cez.1_Nonsense_Mutation_p.S530*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.S509*|TET2_uc003hxi.1_Nonsense_Mutation_p.S509* NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 509 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S509*(3) haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AGACCAATGTCAGAACACCTC 0.433 NaN Mis N|F MDS 0 0 0 0.069234 0 11 37 RAPGEF2 9693 broad.mit.edu 37 4 160253617 160253617 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:160253617C>T uc003iqg.3 + 11 1730 c.1420C>T c.(1420-1422)CTA>TTA p.L474L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 474 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TAAAGAACTTCTAACAAGATT 0.358 NaN 0 0 0 0.049695 0 18 43 CPE 1363 broad.mit.edu 37 4 166414359 166414359 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:166414359C>T uc003irg.3 + 7 1427 c.1150C>T c.(1150-1152)CAA>TAA p.Q384* NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 384 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGAGACCTTCAAGGTAACCC 0.408 NaN OREG0016391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.028581 0 13 36 UFSP2 55325 broad.mit.edu 37 4 186334999 186334999 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:186334999G>T uc003ixo.2 - 7 829 c.712C>A c.(712-714)CAC>AAC p.H238N UFSP2_uc003ixn.2_Missense_Mutation_p.H128N|UFSP2_uc003ixq.2_Missense_Mutation_p.H128N|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 238 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GGTCTGTCGTGAGGCAGATTG 0.333 NaN 1 0 1.1804e-14 0.0918 1.23858e-14 26 31 NIPBL 25836 broad.mit.edu 37 5 36985880 36985880 + Silent SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:36985880A>G uc003jkl.3 + 10 3097 c.2598A>G c.(2596-2598)CTA>CTG p.L866L NIPBL_uc003jkk.3_Silent_p.L866L|NIPBL_uc003jkm.1_Silent_p.L745L NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 866 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTGATAAACTAGAACGAAAAC 0.413 NaN 0 0 0 0.020292 0 14 20 PCDHA6 56142 broad.mit.edu 37 5 140209470 140209470 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:140209470C>T uc003lho.2 + 1 1821 c.1794C>T c.(1792-1794)GAC>GAT p.D598D 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_uc011dab.1_Silent_p.D598D NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 598 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCAGTTGACGCCGACTCAG 0.667 NaN 0 0 0 0.009096 0 3 54 IL17B 27190 broad.mit.edu 37 5 148754143 148754143 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:148754143C>T uc003lqo.2 - 3 382 c.332G>A c.(331-333)CGT>CAT p.R111H NM_014443 NP_055258 Q9UHF5 IL17B_HUMAN interleukin 17B precursor 111 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGGATACGGCTGGGGTC 0.627 NaN 0 0 0 0.021553 0 6 21 SYNPO 11346 broad.mit.edu 37 5 150028061 150028061 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:150028061C>T uc003lsn.2 + 3 1330 c.956C>T c.(955-957)TCG>TTG p.S319L SYNPO_uc003lso.3_Missense_Mutation_p.S75L|SYNPO_uc003lsp.2_Missense_Mutation_p.S75L NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 319 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACCTTGCCTCGCCCAGTGCC 0.607 NaN 0 0 0 0.11126 0 44 93 KIAA1949 170954 broad.mit.edu 37 6 30653297 30653297 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:30653297G>T uc003nra.2 - 2 730 c.499C>A c.(499-501)CTG>ATG p.L167M KIAA1949_uc003nrb.3_Missense_Mutation_p.L167M NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 167 cytoplasm|cytoskeleton actin binding 0 CGAGCCTCCAGAGGCCTCAGG 0.602 NaN 1 0 1.40369e-38 0.048971 1.49392e-38 65 127 RNF5 6048 broad.mit.edu 37 6 32148014 32148014 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:32148014C>T uc003oaj.3 + 6 581 c.454C>T c.(454-456)CTG>TTG p.L152L AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 152 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 AGGTGTGGATCTGGGACAGGG 0.562 NaN 0 0 0 0.048971 0 83 175 COL19A1 1310 broad.mit.edu 37 6 70875870 70875870 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:70875870G>C uc003pfc.1 + 37 2555 c.2438G>C c.(2437-2439)GGA>GCA p.G813A COL19A1_uc010kam.1_Missense_Mutation_p.G709A NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 813 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GGACCACCTGGACCACCTGTG 0.428 NaN 0 0 0 0.004672 0 3 136 B3GAT2 135152 broad.mit.edu 37 6 71665793 71665793 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:71665793T>C uc003pfv.2 - 1 996 c.340A>G c.(340-342)ATC>GTC p.I114V B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.I114V NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 114 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TCCACCAGGATCCAGTGCAGC 0.721 NaN 0 0 0 0.021553 0 5 10 LAMA2 3908 broad.mit.edu 37 6 129691106 129691106 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:129691106G>A uc003qbn.2 + 34 5035 c.4930G>A c.(4930-4932)GTG>ATG p.V1644M LAMA2_uc003qbo.2_Missense_Mutation_p.V1644M NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1644 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAATACACTCGTGACCGAAAT 0.433 NaN 0 0 0 0.034045 0 29 31 SYNE1 23345 broad.mit.edu 37 6 152668238 152668238 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:152668238C>T uc010kiw.2 - 73 12636 c.12034G>A c.(12034-12036)GGC>AGC p.G4012S SYNE1_uc003qot.3_Missense_Mutation_p.G3941S|SYNE1_uc003qou.3_Missense_Mutation_p.G4012S|SYNE1_uc010kja.1_Missense_Mutation_p.G717S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4012 Spectrin 10.|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) TCCTTTGTGCCCTGCAGATGA 0.493 NaN HNSCC(10;0.0054) 0 0 0 0.020292 0 12 39 LPA 4018 broad.mit.edu 37 6 161007642 161007642 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:161007642C>T uc003qtl.2 - 26 4088 c.3968G>A c.(3967-3969)TGC>TAC p.C1323Y NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3831 Kringle 34. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGATTCCTGCAGTAGTTCCT 0.483 NaN 0 0 0 0.038395 0 19 47 CRHR2 1395 broad.mit.edu 37 7 30721547 30721547 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:30721547G>C uc003tbn.2 - 2 457 c.213C>G c.(211-213)GTC>GTG p.V71V CRHR2_uc010kvw.1_Silent_p.V71V|CRHR2_uc010kvx.1_Silent_p.V71V|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Silent_p.V57V|CRHR2_uc003tbp.2_Silent_p.V98V|CRHR2_uc010kvz.1_RNA|CRHR2_uc003tbq.1_RNA NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 71 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 TGTTGTACTTGACGCCGTTGA 0.647 NaN 0 0 0 0.105934 0 10 17 MRPS17 51373 broad.mit.edu 37 7 56022649 56022649 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:56022649G>A uc003trd.2 + 3 201 c.171G>A c.(169-171)CAG>CAA p.Q57Q MRPS17_uc003trb.2_Silent_p.Q152Q NM_015969 NP_057053 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 precursor 57 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCCTTCAGCAGTGCACAGTTG 0.443 NaN 0 0 0 0.048971 0 88 212 TBXAS1 6916 broad.mit.edu 37 7 139636073 139636073 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:139636073G>A uc011kqv.1 + 5 584 c.420G>A c.(418-420)CTG>CTA p.L140L TBXAS1_uc003vvh.2_Silent_p.L140L|TBXAS1_uc010lne.2_Silent_p.L72L|TBXAS1_uc011kqu.1_Silent_p.L91L|TBXAS1_uc003vvi.2_Silent_p.L140L|TBXAS1_uc003vvj.2_Silent_p.L140L|TBXAS1_uc011kqw.1_Silent_p.L120L NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 139 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) GAGGTGCCCTGATGTCTGCTT 0.473 NaN 0 0 0 0.048971 0 65 134 ZNF777 27153 broad.mit.edu 37 7 149129112 149129112 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:149129112C>T uc003wfv.2 - 6 2414 c.2251G>A c.(2251-2253)GCC>ACC p.A751T NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCGGGGCAGGCGTGCGGCCGC 0.682 NaN 0 0 0 0.030593 0 28 44 CSMD1 64478 broad.mit.edu 37 8 3326258 3326258 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr8:3326258G>A uc011kwk.1 - 12 1930 c.1540C>T c.(1540-1542)CCT>TCT p.P514S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 514 CUB 3.|Extracellular (Potential). 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) TTAAACCCAGGTGAGCCAATG 0.478 NaN 0 0 0 0.02938 0 7 9 FAM120A 23196 broad.mit.edu 37 9 96320268 96320268 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:96320268C>T uc004atw.2 + 14 2669 c.2644C>T c.(2644-2646)CAG>TAG p.Q882* FAM120A_uc004aty.2_Nonsense_Mutation_p.Q663*|FAM120A_uc004atz.2_Nonsense_Mutation_p.Q531*|FAM120A_uc010mrg.2_Nonsense_Mutation_p.Q195* NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 882 RNA binding. cytoplasm|plasma membrane RNA binding 0 CCCACCCTCTCAGGGCAGGGG 0.602 NaN 0 0 0 0.069234 0 10 3 KIAA0368 23392 broad.mit.edu 37 9 114152334 114152334 + Missense_Mutation SNP A A C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:114152334A>C uc004bfe.1 - 31 3743 c.3743T>G c.(3742-3744)CTT>CGT p.L1248R NM_001080398 NP_001073867 KIAA0368 protein 0 TGGCTGGCTAAGATCACTTGC 0.398 NaN 0 0 0 0.02938 0 6 6 USP20 10868 broad.mit.edu 37 9 132614875 132614875 + Missense_Mutation SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:132614875T>G uc004bys.2 + 3 252 c.41T>G c.(40-42)ATA>AGA p.I14R USP20_uc004byr.2_Missense_Mutation_p.I14R|USP20_uc004byt.1_Missense_Mutation_p.I14R NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 14 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) CTTGACTCCATAGGAGAGGTG 0.577 NaN 0 0 0 0.004672 0 2 4 IL2RG 3561 broad.mit.edu 37 X 70331308 70331308 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chrX:70331308G>C uc004dyw.1 - 1 96 c.82C>G c.(82-84)CTG>GTG p.L28V IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 28 Extracellular (Potential). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TTGGGCGTCAGAATTGTCGTG 0.562 NaN Severe_Combined_Immunodeficiency_X-linked 0 0 0 0.09319 0 12 9 WBP5 51186 broad.mit.edu 37 X 102612724 102612724 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chrX:102612724G>A uc004ekd.2 + 3 413 c.112G>A c.(112-114)GAG>AAG p.E38K WBP5_uc004eke.2_Missense_Mutation_p.E38K|WBP5_uc004ekf.2_Missense_Mutation_p.E38K|WBP5_uc004ekg.2_Missense_Mutation_p.E38K NM_001006612 NP_001006613 Q9UHQ7 WPB5_HUMAN WW domain binding protein 5 38 Glu-rich. 0 GCTAGAGGAGGAGGCCAAAGC 0.408 NaN 0 0 0 0.055883 0 21 13 SRPK3 26576 broad.mit.edu 37 X 153049816 153049816 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chrX:153049816C>T uc004fil.2 + 11 1247 c.1215C>T c.(1213-1215)ATC>ATT p.I405I SRPK3_uc004fik.2_Silent_p.I471I|SRPK3_uc010nul.2_Silent_p.I329I|SRPK3_uc004fin.2_Silent_p.I404I|SRPK3_uc004fim.2_Silent_p.I371I NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 405 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGATCAAGATCAAGATCGCAG 0.607 NaN 0 0 0 0.038147 0 8 6 ARID1A 8289 broad.mit.edu 37 1 27099094 27099097 + Frame_Shift_Del DEL CAGT CAGT - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 CAGT - CAGT CAGT Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:27099094_27099097delCAGT uc001bmv.1 + 13 3883_3886 c.3510_3513delCAGT c.(3508-3513)CACAGTfs p.H1170fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.H787fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.H17fs|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1170_1171 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCACACCACACAGTCAGATCCCCC 0.564 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 10 36 --- --- ELF3 1999 broad.mit.edu 37 1 201981870 201981871 + Frame_Shift_Ins INS - - T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:201981870_201981871insT uc001gxg.3 + 4 3773_3774 c.581_582insT c.(580-582)TCTfs p.S194fs ELF3_uc001gxi.3_Frame_Shift_Ins_p.S194fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.S194fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 194 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 CCTGGCAGCTCTGACGTCTCCA 0.663 NaN NaN NaN NaN NaN NaN 16 31 --- --- TSNAX 7257 broad.mit.edu 37 1 231696991 231696995 + Frame_Shift_Del DEL AAAAT AAAAT - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:231696991_231696995delAAAAT uc001huw.2 + 5 643_647 c.485_489delAAAAT c.(484-489)GAAAATfs p.E162fs TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_Intron NM_005999 NP_005990 Q99598 TSNAX_HUMAN translin-associated factor X 162_163 Interaction with C1D. cell differentiation|multicellular organismal development|spermatogenesis nucleus|perinuclear region of cytoplasm protein transporter activity|sequence-specific DNA binding 0 all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116) AATGGGAAAGAAAATAAAACTGTGA 0.273 NaN NaN NaN NaN NaN NaN 10 33 --- --- KIAA1704 55425 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr13:45580365_45580367delGAT uc001uzq.2 + 3 353_355 c.250_252delGAT c.(250-252)GATdel p.D88del KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN hypothetical protein LOC55425 88 Poly-Asp. pancreas(1)|skin(1) 2 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.286 NaN NaN NaN NaN NaN NaN 7 329 --- --- DHRS7B 25979 broad.mit.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:21094331_21094333delGAA uc002gyo.2 + 7 870_872 c.843_845delGAA c.(841-846)GGGAAG>GGG p.K285del NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 285 Peroxisomal (Potential). integral to membrane|peroxisomal membrane binding|oxidoreductase activity pancreas(1) 1 CTGCTGTGGGGAAGAAGAAGAAA 0.507 NaN NaN NaN NaN NaN NaN 11 1646 --- --- CASKIN2 57513 broad.mit.edu 37 17 73498817 73498819 + In_Frame_Del DEL AGG AGG - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:73498817_73498819delAGG uc002joc.2 - 18 2886_2888 c.2336_2338delCCT c.(2335-2340)TCCTAC>TAC p.S779del CASKIN2_uc010wsc.1_In_Frame_Del_p.S697del NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 779 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGGCCAAGTAGGAGAAGGCCCA 0.695 NaN NaN NaN NaN NaN NaN 5 9 --- --- IFIH1 64135 broad.mit.edu 37 2 163174805 163174806 + Frame_Shift_Ins INS - - CC TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:163174805_163174806insCC uc002uce.2 - 1 234_235 c.12_13insGG c.(10-15)GGGTATfs p.G4fs IFIH1_uc002ucf.2_Frame_Shift_Ins_p.G4fs NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 4_5 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TCTGTGGAATACCCATTCGACA 0.53 NaN NaN NaN NaN NaN NaN 22 62 --- --- HIST1H4L 8368 broad.mit.edu 37 6 27841112 27841114 + In_Frame_Del DEL AAG AAG - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:27841112_27841114delAAG uc003njz.2 - 1 176_178 c.175_177delCTT c.(175-177)CTTdel p.L59del HIST1H3I_uc003njy.2_5'Flank NM_003546 NP_003537 P62805 H4_HUMAN histone cluster 1, H4l 59 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|breast(1) 2 AAAACACTTTAAGAACTCCGCGT 0.552 NaN NaN NaN NaN NaN NaN 12 41 --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:138715799_138715800insT uc004cgr.3 - 10 1396_1397 c.1396_1397insA c.(1396-1398)ACCfs p.T466fs CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 466 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.337 NaN NaN NaN NaN NaN NaN 2 4 --- ---