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 PLCH2 9651 broad.mit.edu 37 1 2409941 2409941 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:2409941G>A uc001aji.1 + 2 425 c.151G>A c.(151-153)GAG>AAG p.E51K PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 51 PH.|Necessary for plasma membrane localization (By similarity). intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TGCCATGCAAGAGGGGATGCA 0.662 NaN 0 0 0 0.000308642 0 14 46 CNR2 1269 broad.mit.edu 37 1 24201432 24201432 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:24201432G>A uc001bif.2 - 2 803 c.676C>T c.(676-678)CAC>TAC p.H226Y NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 226 Cytoplasmic (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) CTGTCCTGGTGGCCAGACAAG 0.567 NaN 0 0 0 0.000422831 0 15 31 MAP7D1 55700 broad.mit.edu 37 1 36636771 36636771 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:36636771G>A uc001bzz.2 + 2 462 c.246G>A c.(244-246)CCG>CCA p.P82P MAP7D1_uc001caa.2_Silent_p.P82P|MAP7D1_uc001cab.2_Silent_p.P82P|MAP7D1_uc001cac.2_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 82 Pro-rich. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) CAGCCCCCCCGCAGGAAGAGT 0.647 NaN 0 0 0 0.000339439 0 33 55 HFM1 164045 broad.mit.edu 37 1 91778984 91778984 + Missense_Mutation SNP T T C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:91778984T>C uc001doa.3 - 30 3413 c.3313A>G c.(3313-3315)ACT>GCT p.T1105A HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T784A|HFM1_uc001dob.3_Missense_Mutation_p.T293A|HFM1_uc010osv.1_Missense_Mutation_p.T789A NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1105 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTTTGCATAGTGATTTGATTT 0.323 NaN 0 0 0 0.00111076 0 37 51 LCE1E 353135 broad.mit.edu 37 1 152760035 152760035 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:152760035G>A uc001fan.2 + 2 313 c.260G>A c.(259-261)CGT>CAT p.R87H NM_178353 NP_848130 Q5T753 LCE1E_HUMAN late cornified envelope 1E 87 Cys-rich. keratinization 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGGTCCCACCGTCACAGACCC 0.687 NaN 0 0 0 0.000442599 0 7 112 FCER1A 2205 broad.mit.edu 37 1 159275915 159275915 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:159275915G>A uc001ftq.2 + 5 568 c.469G>A c.(469-471)GAG>AAG p.E157K NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 157 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GTACTGGTATGAGAACCACAA 0.502 NaN 0 0 0 0.000274275 0 8 39 RC3H1 149041 broad.mit.edu 37 1 173907942 173907942 + Missense_Mutation SNP G G C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:173907942G>C uc001gju.3 - 19 3406 c.3319C>G c.(3319-3321)CTG>GTG p.L1107V RC3H1_uc010pms.1_Missense_Mutation_p.L1098V|RC3H1_uc001gjv.2_Missense_Mutation_p.L1099V|RC3H1_uc010pmt.1_Missense_Mutation_p.L1108V NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 1107 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GACAGGTTCAGAGAGCTGGTC 0.443 NaN 0 0 0 0.000279167 0 31 65 NUAK2 81788 broad.mit.edu 37 1 205273537 205273537 + Nonsense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:205273537G>A uc001hce.2 - 7 1055 c.928C>T c.(928-930)CGA>TGA p.R310* NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 310 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TCTCCCACTCGGGTGGCGTAG 0.692 NaN 0 0 0 0.000602214 0 5 18 CABC1 56997 broad.mit.edu 37 1 227153387 227153388 + Missense_Mutation DNP CG CG AT rs145350362 TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:227153387_227153388CG>AT uc001hqm.1 + 9 4023_4024 c.604_605CG>AT c.(604-606)CGG>ATG p.R202M CABC1_uc001hqn.1_Missense_Mutation_p.R202M|CABC1_uc009xeq.1_Missense_Mutation_p.R150M|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_Translation_Start_Site NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 202 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) CGAGCATGCCCGGGAGCGGAAG 0.639 NaN 0 0 0 6.4e-05 0 6 65 OBSCN 84033 broad.mit.edu 37 1 228433250 228433250 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:228433250G>A uc009xez.1 + 12 3662 c.3618G>A c.(3616-3618)CTG>CTA p.L1206L OBSCN_uc001hsn.2_Silent_p.L1206L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1206 Ig-like 12. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGAAGAAGCTGAGCTCCAGCT 0.602 NaN 0 0 0 0.000953801 0 36 77 PGBD5 79605 broad.mit.edu 37 1 230492669 230492669 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:230492669C>T uc010pwb.1 - 2 523 c.523G>A c.(523-525)GAC>AAC p.D175N PGBD5_uc001htv.2_Missense_Mutation_p.D274N NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 175 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) AAGGCAGAGTCGAAGCTGTTC 0.612 NaN 0 0 0 0.000157383 0 6 102 KIAA1217 56243 broad.mit.edu 37 10 24762637 24762637 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr10:24762637G>A uc001iru.3 + 6 1730 c.1327G>A c.(1327-1329)GAA>AAA p.E443K KIAA1217_uc001irs.2_Missense_Mutation_p.E363K|KIAA1217_uc001irt.3_Missense_Mutation_p.E443K|KIAA1217_uc010qcy.1_Missense_Mutation_p.E443K|KIAA1217_uc010qcz.1_Missense_Mutation_p.E443K|KIAA1217_uc001irv.1_Missense_Mutation_p.E293K|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.E161K|KIAA1217_uc001irz.2_Missense_Mutation_p.E161K|KIAA1217_uc001irx.2_Missense_Mutation_p.E161K|KIAA1217_uc001iry.2_Missense_Mutation_p.E161K NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 443 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AATGCAAGCGGAAATGCATAT 0.517 NaN 0 0 0 0.00106085 0 28 40 PARD3 56288 broad.mit.edu 37 10 34648183 34648183 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr10:34648183C>G uc010qej.1 - 14 1959 c.1959G>C c.(1957-1959)AAG>AAC p.K653N PARD3_uc010qek.1_Missense_Mutation_p.K653N|PARD3_uc010qel.1_Missense_Mutation_p.K653N|PARD3_uc010qem.1_Missense_Mutation_p.K640N|PARD3_uc010qen.1_Missense_Mutation_p.K640N|PARD3_uc010qeo.1_Missense_Mutation_p.K640N|PARD3_uc010qep.1_Missense_Mutation_p.K596N|PARD3_uc010qeq.1_Missense_Mutation_p.K596N|PARD3_uc001ixo.1_Missense_Mutation_p.K370N|PARD3_uc001ixp.1_Missense_Mutation_p.K518N|PARD3_uc001ixq.1_Missense_Mutation_p.K640N|PARD3_uc001ixr.1_Missense_Mutation_p.K653N|PARD3_uc001ixt.1_Missense_Mutation_p.K474N|PARD3_uc001ixu.1_Missense_Mutation_p.K596N|PARD3_uc001ixs.1_Missense_Mutation_p.K306N NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 653 PDZ 3. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CTTGGTTTGTCTTGCCCAACA 0.413 NaN 0 0 0 0.000781405 0 43 85 HIF1AN 55662 broad.mit.edu 37 10 102296389 102296389 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr10:102296389G>A uc001krj.3 + 2 474 c.399G>A c.(397-399)CAG>CAA p.Q133Q NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 133 Interaction with HIF1A.|Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) AGAAACTGCAGGATATACAGC 0.398 NaN 0 0 0 0.000374591 0 39 119 PSTK 118672 broad.mit.edu 37 10 124740004 124740004 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr10:124740004C>T uc001lgy.1 + 1 449 c.9C>T c.(7-9)ACC>ACT p.T3T NM_153336 NP_699167 Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 3 ATP binding|kinase activity liver(1) 1 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GCATGAAGACCGCCGAGAACA 0.701 NaN OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000978159 0 10 13 FAM175B 23172 broad.mit.edu 37 10 126523363 126523363 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr10:126523363C>T uc001lib.3 + 9 1116 c.1071C>T c.(1069-1071)GAC>GAT p.D357D NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 357 BRISC complex polyubiquitin binding 0 GTGGGGCTGACCTTCCTCCTC 0.493 NaN 0 0 0 0.000157383 0 8 23 FJX1 24147 broad.mit.edu 37 11 35640997 35640997 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:35640997C>T uc001mwh.2 + 1 1263 c.813C>T c.(811-813)GCC>GCT p.A271A NM_014344 NP_055159 Q86VR8 FJX1_HUMAN four jointed box 1 precursor 271 extracellular space 0 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) TCCGGGATGCCGGGGGTGAGC 0.677 NaN 0 0 0 0.00024832 0 4 33 OR5R1 219479 broad.mit.edu 37 11 56185064 56185064 + Silent SNP G G T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:56185064G>T uc010rji.1 - 1 645 c.645C>A c.(643-645)CTC>CTA p.L215L NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TGTAGGAGGTGAGGACAATGG 0.468 NaN 1 0 2.70639e-06 0.000295444 2.5161e-05 22 40 TNKS1BP1 85456 broad.mit.edu 37 11 57077076 57077076 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:57077076C>G uc001njr.2 - 5 3421 c.3109G>C c.(3109-3111)GAT>CAT p.D1037H TNKS1BP1_uc001njs.2_Missense_Mutation_p.D1037H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.D488H NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1037 Gly-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) AGTGCCCCATCCGGCACGTGG 0.637 NaN 0 0 0 0.000781405 0 45 106 SPTBN2 6712 broad.mit.edu 37 11 66468734 66468734 + Missense_Mutation SNP G G T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:66468734G>T uc001ojd.2 - 16 2908 c.2836C>A c.(2836-2838)CTG>ATG p.L946M NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 946 Spectrin 6. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCGTCTGCCAGACGCCGAAAC 0.582 NaN 1 0 5.35267e-07 0.000958276 5.09574e-06 19 43 MOGAT2 80168 broad.mit.edu 37 11 75438555 75438555 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:75438555G>A uc010rru.1 + 3 346 c.346G>A c.(346-348)GGA>AGA p.G116R MOGAT2_uc001oww.1_Missense_Mutation_p.G116R|MOGAT2_uc010rrv.1_Missense_Mutation_p.G34R NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 116 Helical; (Potential). glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CCTGGCAGTCGGAGCCTTTGC 0.602 NaN 0 0 0 0.000566183 0 16 176 INTS4 92105 broad.mit.edu 37 11 77605369 77605369 + Missense_Mutation SNP T T G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:77605369T>G uc001oys.2 - 19 2283 c.2255A>C c.(2254-2256)GAA>GCA p.E752A C11orf67_uc001oyp.2_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.2_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 752 snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) TAAAAATTTTTCACACATCCC 0.353 NaN 0 0 0 0.000958276 0 19 25 C11orf53 341032 broad.mit.edu 37 11 111156561 111156561 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr11:111156561C>T uc001plc.2 + 4 640 c.493C>T c.(493-495)CAT>TAT p.H165Y NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 165 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) ATACTCGCTGCATGCTCTGGA 0.617 NaN 0 0 0 0.000409698 0 33 66 GYS2 2998 broad.mit.edu 37 12 21757466 21757466 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr12:21757466C>G uc001rfb.2 - 1 316 c.61G>C c.(61-63)GAA>CAA p.E21Q NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 21 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GGAAGTTCTTCGACTTCCCAC 0.493 NaN 0 0 0 0.000184323 0 29 54 ADAMTS20 80070 broad.mit.edu 37 12 43771260 43771260 + Missense_Mutation SNP G G C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr12:43771260G>C uc010skx.1 - 32 4903 c.4903C>G c.(4903-4905)CAA>GAA p.Q1635E NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1635 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGGCATTCTTGATAAACTATA 0.428 NaN 0 0 0 0.000978159 0 12 23 ADAMTS20 80070 broad.mit.edu 37 12 43886428 43886428 + Missense_Mutation SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr12:43886428C>A uc010skx.1 - 6 956 c.956G>T c.(955-957)GGA>GTA p.G319V NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 319 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AATGACTGGTCCTTCCTATGC 0.363 NaN 1 0 4.68919e-08 0.000673444 4.50011e-07 9 42 PPFIA2 8499 broad.mit.edu 37 12 81688723 81688723 + Missense_Mutation SNP A A G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr12:81688723A>G uc001szo.1 - 24 2977 c.2816T>C c.(2815-2817)ATC>ACC p.I939T PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 865 ovary(3)|lung(2)|pancreas(1) 6 TTCTCTCTGGATCTCAGTGTC 0.488 NaN 0 0 0 0.00024832 0 4 22 PLEKHG7 440107 broad.mit.edu 37 12 93149620 93149620 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr12:93149620G>A uc001tcj.2 + 7 740 c.510G>A c.(508-510)GTG>GTA p.V170V NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 170 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 AAGGAAAAGTGAAGTGGCTGG 0.383 NaN 0 0 0 0.00106085 0 27 65 CCDC63 160762 broad.mit.edu 37 12 111319049 111319049 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr12:111319049G>A uc001trv.1 + 7 997 c.802G>A c.(802-804)GTC>ATC p.V268I CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.V228I|CCDC63_uc001trw.1_Missense_Mutation_p.V183I NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 268 Potential. skin(6)|ovary(1)|pancreas(1) 8 CTTCCTGCTCGTCAAGCTGAA 0.498 NaN 0 0 0 0.000978159 0 12 28 SNX6 58533 broad.mit.edu 37 14 35036931 35036931 + Missense_Mutation SNP A A T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr14:35036931A>T uc001wsf.1 - 13 1172 c.1164T>A c.(1162-1164)AAT>AAA p.N388K SNX6_uc001wse.1_Missense_Mutation_p.N260K|SNX6_uc010tpm.1_Missense_Mutation_p.N264K NM_152233 NP_689419 Q9UNH7 SNX6_HUMAN sorting nexin 6 isoform b 376 cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity 0 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) GTTCCACTAAATTTTTTCTGA 0.269 NaN 0 0 0 0.000295444 0 21 46 MTHFD1 4522 broad.mit.edu 37 14 64921557 64921557 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr14:64921557C>T uc001xhb.2 + 26 3069 c.2682C>T c.(2680-2682)AGC>AGT p.S894S MTHFD1_uc010aqf.2_Silent_p.S950S|ZBTB25_uc001xhc.2_Intron NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 894 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCCGCGCCAGCGTTGGGGCTG 0.532 NaN 0 0 0 0.000319135 0 37 93 KIF26A 26153 broad.mit.edu 37 14 104641739 104641739 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr14:104641739G>A uc001yos.3 + 12 2614 c.2614G>A c.(2614-2616)GCC>ACC p.A872T NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 872 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGCCAGCCCCGCCCGAGGGGG 0.711 NaN 0 0 0 0.000978159 0 10 16 LRRC49 54839 broad.mit.edu 37 15 71302329 71302329 + Missense_Mutation SNP G G C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr15:71302329G>C uc002asw.2 + 13 1838 c.1591G>C c.(1591-1593)GAG>CAG p.E531Q LRRC49_uc002asu.2_Missense_Mutation_p.E521Q|LRRC49_uc002asx.2_Missense_Mutation_p.E487Q|LRRC49_uc010ukf.1_Missense_Mutation_p.E536Q|LRRC49_uc002asy.2_Missense_Mutation_p.E237Q|LRRC49_uc002asz.2_Missense_Mutation_p.E503Q NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 531 cytoplasm|microtubule ovary(1) 1 AAATGGAACAGAGGTAAGCTA 0.299 NaN 0 0 0 0.000132079 0 19 39 MAN2C1 4123 broad.mit.edu 37 15 75651976 75651976 + Missense_Mutation SNP C C A rs147452674 TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr15:75651976C>A uc002baf.2 - 16 1950 c.1933G>T c.(1933-1935)GGG>TGG p.G645W MAN2C1_uc002bag.2_Missense_Mutation_p.G645W|MAN2C1_uc002bah.2_Missense_Mutation_p.G645W|MAN2C1_uc010bkk.2_Missense_Mutation_p.G546W|MAN2C1_uc010umi.1_Missense_Mutation_p.G427W NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 645 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CTGTGGGCCCCGCCCGGTTTG 0.647 NaN 1 0 2.94398e-08 0.000958276 2.84824e-07 16 36 MYLK3 91807 broad.mit.edu 37 16 46766260 46766260 + Missense_Mutation SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr16:46766260C>A uc002eei.3 - 4 1438 c.1322G>T c.(1321-1323)GGG>GTG p.G441V MYLK3_uc010vge.1_Missense_Mutation_p.G100V|MYLK3_uc002eej.1_Missense_Mutation_p.G100V NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 441 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCCCAGGGCCCCAACCTCGTG 0.662 NaN 1 0 1.67305e-13 0.000228196 1.68723e-12 38 102 BANP 54971 broad.mit.edu 37 16 88098939 88098939 + Splice_Site SNP G G T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr16:88098939G>T uc002fkr.2 + 12 1565 c.1341_splice c.e12+1 p.Q447_splice BANP_uc002fkp.2_Splice_Site_p.Q420_splice|BANP_uc002fkq.2_Intron|BANP_uc010vow.1_Intron|BANP_uc002fks.3_Intron NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) cagtggccaggtgagtccttt 0 NaN 1 0 2.23348e-06 0.000422831 2.09279e-05 15 35 SNAI3 333929 broad.mit.edu 37 16 88745035 88745035 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr16:88745035C>T uc002flj.2 - 3 768 c.700G>A c.(700-702)GAG>AAG p.E234K MGC23284_uc002fli.3_Intron NM_178310 NP_840101 Q3KNW1 SNAI3_HUMAN snail homolog 3 234 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.048) TAGGGCTTCTCCCCTGTGGGA 0.612 NaN 0 0 0 0.000219431 0 15 23 GALNS 2588 broad.mit.edu 37 16 88893122 88893122 + Missense_Mutation SNP C C T rs150734270 byFrequency TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr16:88893122C>T uc002fly.3 - 10 1216 c.1127G>A c.(1126-1128)CGG>CAG p.R376Q GALNS_uc010cid.2_Missense_Mutation_p.R382Q|GALNS_uc002flz.3_Missense_Mutation_p.R59Q NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 376 R -> Q (in MPS4A; severe form). lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GTCCATCAGCCGGCCCTGCAG 0.662 NaN 0 0 0 0.000586117 0 21 20 MYBBP1A 10514 broad.mit.edu 37 17 4445105 4445105 + Missense_Mutation SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr17:4445105C>A uc002fyb.3 - 23 3231 c.3169G>T c.(3169-3171)GGC>TGC p.G1057C MYBBP1A_uc002fxz.3_Missense_Mutation_p.G1057C|MYBBP1A_uc002fya.3_Missense_Mutation_p.G2C|MYBBP1A_uc010vsa.1_Missense_Mutation_p.G99C NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 1057 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 AGGACCTGGCCCATCAGCTGC 0.627 NaN 1 0 1.99505e-19 0.000409698 2.02916e-18 30 96 NCOR1 9611 broad.mit.edu 37 17 16029478 16029478 + Nonsense_Mutation SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr17:16029478C>A uc002gpo.2 - 15 1792 c.1552G>T c.(1552-1554)GAA>TAA p.E518* NCOR1_uc002gpn.2_Nonsense_Mutation_p.E518*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.E409*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.E409*|NCOR1_uc002gps.1_Nonsense_Mutation_p.E527*|NCOR1_uc010coz.1_Nonsense_Mutation_p.E334*|NCOR1_uc010cpb.1_Nonsense_Mutation_p.E528*|NCOR1_uc010cpa.1_Nonsense_Mutation_p.E519* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 518 Potential. 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) ttatcctcttctttttcttct 0.179 NaN 1 0 6.49762e-13 0.00074312 6.49762e-12 19 28 SLC13A2 9058 broad.mit.edu 37 17 26821083 26821083 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr17:26821083C>T uc002hbh.2 + 8 1213 c.1146C>T c.(1144-1146)TTC>TTT p.F382F SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.1_Silent_p.F338F|SLC13A2_uc010wan.1_Silent_p.F431F|SLC13A2_uc010wao.1_Silent_p.F339F|SLC13A2_uc002hbi.2_Silent_p.F311F NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 382 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TAATTATGTTCATCATACCCT 0.607 NaN 0 0 0 0.000175454 0 17 91 SRCIN1 80725 broad.mit.edu 37 17 36705305 36705305 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr17:36705305G>A uc002hqd.2 - 16 3329 c.3104C>T c.(3103-3105)TCG>TTG p.S1035L SRCIN1_uc002hqf.1_Missense_Mutation_p.S907L|SRCIN1_uc002hqe.2_Missense_Mutation_p.S889L NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 907 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 GATGAAGGCCGAGTCCTTCTT 0.632 NaN 0 0 0 0.000319135 0 35 62 C17orf57 124989 broad.mit.edu 37 17 45447812 45447812 + Missense_Mutation SNP T T C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr17:45447812T>C uc002iln.2 + 11 1226 c.815T>C c.(814-816)ATG>ACG p.M272T C17orf57_uc002ilm.2_Missense_Mutation_p.M176T|C17orf57_uc002ill.1_Missense_Mutation_p.M28T|C17orf57_uc010daz.1_Missense_Mutation_p.M224T NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 272 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 GGTAACCACATGGTGGATATT 0.318 NaN 0 0 0 0.000375601 0 23 54 ANKRD30B 374860 broad.mit.edu 37 18 14779986 14779986 + Missense_Mutation SNP G G A rs76927023 byFrequency TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr18:14779986G>A uc010dlo.2 + 11 1628 c.1448G>A c.(1447-1449)CGA>CAA p.R483Q ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 483 ovary(1)|skin(1) 2 GAATCCAAACGAGAGGAAGAT 0.284 NaN 0 0 0 0.000673444 0 7 29 CCDC102B 79839 broad.mit.edu 37 18 66678339 66678339 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr18:66678339G>A uc002lkk.2 + 9 1655 c.1432G>A c.(1432-1434)GAG>AAG p.E478K CCDC102B_uc002lki.2_Missense_Mutation_p.E478K NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 478 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAAAGAAGATGAGGTACTACT 0.368 NaN 0 0 0 3.59834e-05 0 6 33 MUC16 94025 broad.mit.edu 37 19 9014673 9014673 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:9014673C>G uc002mkp.2 - 31 38506 c.38302G>C c.(38302-38304)GAT>CAT p.D12768H MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12770 SEA 5.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGATGGCATCCACTCCAGTG 0.547 NaN 0 0 0 0.000227799 0 20 28 MUC16 94025 broad.mit.edu 37 19 9017487 9017487 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:9017487C>G uc002mkp.2 - 26 38041 c.37837G>C c.(37837-37839)GAT>CAT p.D12613H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12615 SEA 4.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGATGGCATCCACTCCAGTG 0.547 NaN 0 0 0 0.00010058 0 8 75 COL5A3 50509 broad.mit.edu 37 19 10116237 10116237 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:10116237G>A uc002mmq.1 - 4 677 c.591C>T c.(589-591)TTC>TTT p.F197F NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 197 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CTCCTACCTCGAAAGTCTTTT 0.532 NaN 0 0 0 0.000151284 0 11 96 ICAM3 3385 broad.mit.edu 37 19 10445810 10445811 + Missense_Mutation DNP CG CG AT TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:10445810_10445811CG>AT uc002mob.2 - 4 923_924 c.868_869CG>AT c.(868-870)CGG>ATG p.R290M RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.R213M|ICAM3_uc010xlf.1_3'UTR NM_002162 NP_002153 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 precursor 290 Extracellular (Potential).|Ig-like C2-type 3. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) GACGATCTCCCGGGCACCCTCC 0.668 NaN 0 0 0 6.4e-05 0 13 274 CYP4F12 66002 broad.mit.edu 37 19 15791063 15791063 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:15791063C>T uc002nbl.2 + 4 414 c.353C>T c.(352-354)GCA>GTA p.A118V CYP4F12_uc010xoo.1_Missense_Mutation_p.A118V|CYP4F12_uc010xop.1_Missense_Mutation_p.A118V NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) GCTGCCATTGCACCCAAGGAT 0.567 NaN 0 0 0 0.000781405 0 67 174 MAST3 23031 broad.mit.edu 37 19 18245741 18245741 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:18245741G>A uc002nhz.3 + 16 1732 c.1732G>A c.(1732-1734)GTG>ATG p.V578M NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 578 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GGTGGGCTGCGTGCCTTTCTT 0.617 NaN 0 0 0 0.000781405 0 45 91 ZNF569 148266 broad.mit.edu 37 19 37903795 37903795 + Nonsense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:37903795G>A uc002ogi.2 - 6 2323 c.1765C>T c.(1765-1767)CAA>TAA p.Q589* ZNF569_uc002ogh.2_Nonsense_Mutation_p.Q430*|ZNF569_uc002ogj.2_Nonsense_Mutation_p.Q613* NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 589 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGTTCTTTGAGAGAAGGCT 0.418 NaN 0 0 0 0.000339439 0 32 72 SIPA1L3 23094 broad.mit.edu 37 19 38682830 38682830 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:38682830G>A uc002ohk.2 + 17 4985 c.4476G>A c.(4474-4476)TTG>TTA p.L1492L NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1492 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AACCGAGGTTGAGGGCATCCC 0.552 NaN 0 0 0 0.000295444 0 21 44 NUMBL 9253 broad.mit.edu 37 19 41188699 41188699 + Silent SNP T T C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:41188699T>C uc002oon.2 - 5 501 c.333A>G c.(331-333)CGA>CGG p.R111R NUMBL_uc010xvq.1_Silent_p.R70R|NUMBL_uc002ooo.2_Silent_p.R111R|NUMBL_uc010xvr.1_Silent_p.R70R NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 111 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding lung(3)|ovary(1)|breast(1) 5 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TCACGGACTTTCGGCCCATCT 0.657 NaN 0 0 0 0.000308642 0 15 55 ERCC2 2068 broad.mit.edu 37 19 45867337 45867337 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:45867337G>A uc002pbj.2 - 10 903 c.856C>T c.(856-858)CGG>TGG p.R286W ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.R208W|ERCC2_uc002pbk.2_Missense_Mutation_p.R262W|ERCC2_uc002pbl.3_Missense_Mutation_p.R262W|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 286 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ACCAGACGCCGGTACTCGTCC 0.701 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.000274275 0 9 16 PLA2G4C 8605 broad.mit.edu 37 19 48609779 48609779 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr19:48609779C>T uc002phx.2 - 2 406 c.8G>A c.(7-9)AGC>AAC p.S3N PLA2G4C_uc002phw.2_5'Flank|PLA2G4C_uc010elr.2_Missense_Mutation_p.S3N|PLA2G4C_uc010xzd.1_Silent_p.K23K|PLA2G4C_uc002phy.3_Missense_Mutation_p.S3N NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 3 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) GAGGACTTACCTTCCCATGGT 0.502 NaN 0 0 0 0.000319135 0 38 82 NBAS 51594 broad.mit.edu 37 2 15676631 15676631 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:15676631C>G uc002rcc.1 - 8 584 c.558G>C c.(556-558)TTG>TTC p.L186F NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 186 ovary(2)|liver(1)|skin(1) 4 CTAAAAATATCAACCCAGCAA 0.348 NaN 0 0 0 0.000781405 0 64 179 MATN3 4148 broad.mit.edu 37 2 20202935 20202935 + Silent SNP C C T rs139419822 by1000genomes TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:20202935C>T uc002rdl.2 - 3 966 c.903G>A c.(901-903)AAG>AAA p.K301K MATN3_uc010exu.1_Intron NM_002381 NP_002372 O15232 MATN3_HUMAN matrilin 3 precursor 301 EGF-like 1. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACACGTTTTCTTGTCGGCAT 0.527 NaN 0 0 0 0.000295444 0 20 45 TMEM214 54867 broad.mit.edu 37 2 27259978 27259978 + Missense_Mutation SNP G G T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:27259978G>T uc002ria.3 + 8 1052 c.942G>T c.(940-942)ATG>ATT p.M314I TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.M269I NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 314 integral to membrane protein binding 0 GCTTCGGCATGATTGGCCCCA 0.567 NaN 1 0 3.8128e-34 0.000781405 3.91141e-33 65 163 C2orf53 339779 broad.mit.edu 37 2 27361074 27361074 + Nonsense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:27361074G>A uc002rjb.2 - 3 704 c.124C>T c.(124-126)CAG>TAG p.Q42* NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 42 Pro-rich. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGGCCCTGATGGGGAGAG 0.627 NaN 0 0 0 0.00074312 0 19 30 ACYP2 98 broad.mit.edu 37 2 54531938 54531938 + Silent SNP A A G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:54531938A>G uc002rxq.3 + 4 725 c.299A>G c.(298-300)TAA>TGA p.*100* NM_138448 NP_612457 P14621 ACYP2_HUMAN acylphosphatase 2 100 phosphate metabolic process acylphosphatase activity 0 ATTAGATACTAATAGAAGAGA 0.333 NaN 0 0 0 0.000151284 0 14 16 PAPOLG 64895 broad.mit.edu 37 2 60996024 60996024 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:60996024G>A uc002sai.2 + 5 668 c.437G>A c.(436-438)AGA>AAA p.R146K PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 146 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1)|central_nervous_system(1) 2 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AGAAACTTAAGAGTAAGTATC 0.284 NaN 0 0 0 0.00010058 0 12 15 EIF2AK3 9451 broad.mit.edu 37 2 88894996 88894996 + Silent SNP A A G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:88894996A>G uc002stc.3 - 3 826 c.624T>C c.(622-624)TAT>TAC p.Y208Y NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 208 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CCTTTCCACTATATGCACTGA 0.318 NaN 0 0 0 0.000566183 0 16 37 BOLL 66037 broad.mit.edu 37 2 198621229 198621229 + Missense_Mutation SNP A A T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:198621229A>T uc002uus.2 - 9 962 c.652T>A c.(652-654)TAT>AAT p.Y218N uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.Y224N|BOLL_uc002uut.2_Missense_Mutation_p.Y230N|BOLL_uc010zha.1_Missense_Mutation_p.Y109N|BOLL_uc002uuu.1_Missense_Mutation_p.Y246N NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 218 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 ACTGGTTGATAAATAACCTCA 0.373 NaN 0 0 0 0.000274275 0 8 28 PIKFYVE 200576 broad.mit.edu 37 2 209189658 209189658 + Silent SNP A A T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:209189658A>T uc002vcz.2 + 19 2513 c.2355A>T c.(2353-2355)CGA>CGT p.R785R PIKFYVE_uc010fun.1_Silent_p.R466R|PIKFYVE_uc002vcy.1_Silent_p.R729R NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 785 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 GAATCAGTCGAATGACCCAAG 0.343 NaN 0 0 0 0.00106085 0 25 58 CXCR2 3579 broad.mit.edu 37 2 219000386 219000386 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:219000386C>T uc002vgz.1 + 4 1087 c.862C>T c.(862-864)CGC>TGC p.R288C CXCR2_uc002vha.1_Missense_Mutation_p.R288C|CXCR2_uc002vhb.1_Missense_Mutation_p.R288C NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 288 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 GACCTGTGAGCGCCGCAATCA 0.592 NaN 0 0 0 8.12818e-05 0 7 95 FAM134A 79137 broad.mit.edu 37 2 220047272 220047272 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:220047272C>T uc002vjw.3 + 9 1689 c.1553C>T c.(1552-1554)CCT>CTT p.P518L FAM134A_uc010fwc.2_Missense_Mutation_p.P311L|FAM134A_uc002vjx.2_Missense_Mutation_p.P276L NM_024293 NP_077269 Q8NC44 F134A_HUMAN hypothetical protein LOC79137 518 endoplasmic reticulum|integral to membrane ovary(1)|central_nervous_system(1) 2 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAAAACCCCCTGATGCTCCA 0.607 NaN 0 0 0 0.000720815 0 27 66 TMEM198 130612 broad.mit.edu 37 2 220412380 220412380 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:220412380G>A uc002vme.2 + 4 904 c.319G>A c.(319-321)GGG>AGG p.G107R TMEM198_uc002vmf.2_Missense_Mutation_p.G107R NM_001005209 NP_001005209 Q66K66 TM198_HUMAN transmembrane protein 198 107 Helical; (Potential).|Leu-rich. integral to membrane ovary(1) 1 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCTGCTCTGCGGGCTGGTGGC 0.687 NaN 0 0 0 0.000151284 0 14 125 MTERFD2 130916 broad.mit.edu 37 2 242039054 242039054 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:242039054C>G uc002wan.1 - 1 857 c.364G>C c.(364-366)GAG>CAG p.E122Q MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.E93Q NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 93 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) ATGACCCTCTCTAGCTCCAAG 0.507 NaN 0 0 0 0.000781405 0 44 82 ZNF343 79175 broad.mit.edu 37 20 2464291 2464291 + Missense_Mutation SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr20:2464291C>A uc002wge.1 - 6 1804 c.1316G>T c.(1315-1317)TGC>TTC p.C439F ZNF343_uc010gao.1_Missense_Mutation_p.C439F|ZNF343_uc002wgd.1_Missense_Mutation_p.C349F NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 439 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACACTCCCTGCAAACATAAGG 0.522 NaN 1 0 6.72482e-11 0.000308642 6.61367e-10 16 41 DLGAP4 22839 broad.mit.edu 37 20 35064675 35064675 + Nonsense_Mutation SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr20:35064675C>A uc002xff.2 + 4 1598 c.1163C>A c.(1162-1164)TCA>TAA p.S388* DLGAP4_uc010zvp.1_Nonsense_Mutation_p.S388* NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 388 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCAAGCCCTCACCCAAGACC 0.711 NaN 1 0 1.3612e-06 0.000308642 1.28558e-05 14 29 MAFB 9935 broad.mit.edu 37 20 39316580 39316580 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr20:39316580G>A uc002xji.2 - 1 1297 c.911C>T c.(910-912)TCC>TTC p.S304F NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 304 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) CCTGAAGCCGGAGTTGGCGAG 0.527 NaN T IGH@ MM 0 0 0 0.000958276 0 19 105 EDN3 1908 broad.mit.edu 37 20 57875894 57875894 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr20:57875894C>T uc002yap.2 + 1 396 c.27C>T c.(25-27)TTC>TTT p.F9F EDN3_uc002yao.1_Silent_p.F9F|EDN3_uc002yaq.2_Silent_p.F9F|EDN3_uc002yar.2_Silent_p.F9F|EDN3_uc002yas.2_Silent_p.F9F NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 9 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) GGCTCCTTTTCGGGCTCACAG 0.721 NaN 0 0 0 0.000308642 0 12 22 POTEH 23784 broad.mit.edu 37 22 16287731 16287731 + Missense_Mutation SNP G G T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr22:16287731G>T uc010gqp.2 - 1 207 c.155C>A c.(154-156)TCT>TAT p.S52Y POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 52 skin(1) 1 CTTCATAGCAGAATCGTCGTG 0.612 NaN 1 0 5.96743e-59 0.000781405 6.17499e-58 87 442 TOB2 10766 broad.mit.edu 37 22 41833080 41833080 + Silent SNP C C T rs61756254 TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr22:41833080C>T uc003azz.1 - 2 977 c.270G>A c.(268-270)CTG>CTA p.L90L NM_016272 NP_057356 Q14106 TOB2_HUMAN transducer of ERBB2, 2 90 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus ovary(1) 1 TCCAGACACTCAGCTCCTCAG 0.597 NaN 0 0 0 0.000589545 0 40 88 SRGAP3 9901 broad.mit.edu 37 3 9032407 9032407 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr3:9032407C>T uc003brf.1 - 21 3351 c.2675G>A c.(2674-2676)TGC>TAC p.C892Y SRGAP3_uc003brg.1_Missense_Mutation_p.C868Y NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 892 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GCTGCTGGGGCAGGCAGCAGC 0.697 NaN T RAF1 pilocytic astrocytoma 0 0 0 0.00010058 0 12 18 ZNF167 55888 broad.mit.edu 37 3 44598778 44598778 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr3:44598778G>A uc010hin.2 + 2 627 c.239G>A c.(238-240)CGC>CAC p.R80H ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R80H|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R80H|ZNF167_uc003cnk.2_Missense_Mutation_p.R80H NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 80 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GAGCTCTGCCGCTGGTGGCTC 0.607 NaN 0 0 0 0.000151284 0 14 38 CACNA2D2 9254 broad.mit.edu 37 3 50414954 50414954 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr3:50414954C>T uc003daq.2 - 17 1608 c.1570G>A c.(1570-1572)GTG>ATG p.V524M CACNA2D2_uc003dap.2_Missense_Mutation_p.V524M NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 524 Cache.|Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ATGCCCATCACGCCCAGGATC 0.602 NaN 0 0 0 0.000673444 0 11 24 BOC 91653 broad.mit.edu 37 3 112998756 112998756 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr3:112998756G>A uc003dzx.2 + 13 2727 c.2106G>A c.(2104-2106)TCG>TCA p.S702S BOC_uc003dzy.2_Silent_p.S702S|BOC_uc003dzz.2_Silent_p.S703S|BOC_uc003eab.2_Silent_p.S403S|BOC_uc003eac.2_Silent_p.S17S NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 702 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) ACGTGGTGTCGGGCTACAGCG 0.607 NaN 0 0 0 0.000589545 0 46 81 KIAA1407 57577 broad.mit.edu 37 3 113753924 113753924 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr3:113753924C>T uc003eax.2 - 6 813 c.666G>A c.(664-666)TCG>TCA p.S222S KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.S200S|KIAA1407_uc011bip.1_Silent_p.S209S NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 222 Potential. ovary(2) 2 CCAAGAAGGCCGATTTTTTCA 0.423 NaN 0 0 0 0.000586117 0 26 69 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.000422831 0 16 42 KLHL8 57563 broad.mit.edu 37 4 88099702 88099702 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr4:88099702G>A uc011cdb.1 - 5 1408 c.1023C>T c.(1021-1023)ATC>ATT p.I341I KLHL8_uc003hql.1_Silent_p.I341I|KLHL8_uc003hqm.1_Silent_p.I265I|KLHL8_uc003hqn.1_Silent_p.I158I|KLHL8_uc010ikj.1_5'UTR NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 341 Kelch 1. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TGTTTTTGTTGATAGAATAGC 0.428 NaN 0 0 0 0.000442599 0 8 64 FGA 2243 broad.mit.edu 37 4 155506820 155506820 + Silent SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr4:155506820C>G uc003iod.1 - 5 1819 c.1761G>C c.(1759-1761)ACG>ACC p.T587T FGA_uc003ioe.1_Silent_p.T587T|FGA_uc003iof.1_3'UTR NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 587 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TGTTGTAACTCGTGCTACTAG 0.433 NaN 0 0 0 0.000878237 0 27 49 TLL1 7092 broad.mit.edu 37 4 166795194 166795194 + Missense_Mutation SNP G G C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr4:166795194G>C uc003irh.1 + 1 785 c.138G>C c.(136-138)GAG>GAC p.E46D TLL1_uc011cjn.1_Missense_Mutation_p.E46D|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 46 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATAAAACAGAGACTATAGATT 0.577 NaN 0 0 0 0.000781405 0 94 177 DNAH5 1767 broad.mit.edu 37 5 13814929 13814929 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr5:13814929C>T uc003jfd.2 - 43 7057 c.7015G>A c.(7015-7017)GGT>AGT p.G2339S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2339 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCTACTGGACCATCAAGAATT 0.383 NaN Kartagener_syndrome 0 0 0 0.000151284 0 13 24 SKIV2L2 23517 broad.mit.edu 37 5 54674240 54674240 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr5:54674240G>A uc003jpy.3 + 17 2175 c.1909G>A c.(1909-1911)GGT>AGT p.G637S SKIV2L2_uc011cqi.1_Missense_Mutation_p.G536S NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 637 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TGCCAAATTGGGTAAAGAAAT 0.308 NaN 0 0 0 0.000375601 0 23 69 PCDHA7 56141 broad.mit.edu 37 5 140215322 140215322 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr5:140215322G>A uc003lhq.2 + 1 1354 c.1354G>A c.(1354-1356)GCC>ACC p.A452T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A452T NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 452 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCCCCGGCGTT 0.677 NaN 0 0 0 0.000781405 0 50 99 PCDHA7 56141 broad.mit.edu 37 5 140215822 140215822 + Silent SNP G G C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr5:140215822G>C uc003lhq.2 + 1 1854 c.1854G>C c.(1852-1854)GCG>GCC p.A618A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A618A NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 618 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCCGGTGCGAGCATCCCGT 0.637 NaN 0 0 0 0.000589545 0 41 92 PCDHGB6 56100 broad.mit.edu 37 5 140787909 140787909 + Missense_Mutation SNP T T A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr5:140787909T>A uc003lkj.1 + 1 140 c.140T>A c.(139-141)GTG>GAG p.V47E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.V47E NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 47 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGGTGGTGGGGAACCTC 0.592 NaN 0 0 0 0.000132079 0 20 55 DBN1 1627 broad.mit.edu 37 5 176885084 176885084 + Missense_Mutation SNP T T C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr5:176885084T>C uc003mgy.2 - 12 1923 c.1751A>G c.(1750-1752)GAG>GGG p.E584G DBN1_uc011dga.1_Missense_Mutation_p.E316G|DBN1_uc003mgx.2_Missense_Mutation_p.E586G|DBN1_uc010jkn.1_Missense_Mutation_p.E534G|DBN1_uc003mgz.1_Missense_Mutation_p.E567G NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 584 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGTGGTCTCGCCATTGGT 0.682 NaN 0 0 0 0.000339439 0 31 88 HIVEP1 3096 broad.mit.edu 37 6 12124529 12124529 + Missense_Mutation SNP A A C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:12124529A>C uc003nac.2 + 4 4680 c.4501A>C c.(4501-4503)ACC>CCC p.T1501P HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1501 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTCCAGCTCTACCAACGTTTT 0.438 NaN 0 0 0 0.00106085 0 27 40 HIST1H2BG 8339 broad.mit.edu 37 6 26216573 26216573 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:26216573C>T uc003ngz.2 - 1 300 c.299G>A c.(298-300)CGT>CAT p.R100H HIST1H2AE_uc003nha.1_5'Flank NM_003518 NP_003509 P62807 H2B1C_HUMAN histone cluster 1, H2bg 100 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) AAGCAGCAGACGCACGGCGGT 0.567 NaN 0 0 0 0.000878237 0 26 148 HLA-F 3134 broad.mit.edu 37 6 29694776 29694776 + Silent SNP C C A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:29694776C>A uc003nno.3 + 7 1277 c.1153C>A c.(1153-1155)CGG>AGG p.R385R HLA-F_uc011dlx.1_Silent_p.R385R|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA NM_001098479 NP_001091949 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 CTTGGGCCGCCGGAAGGTGGG 0.512 NaN 1 0 1.50039e-11 0.000229342 1.48789e-10 21 244 HLA-C 3107 broad.mit.edu 37 6 31239532 31239532 + Missense_Mutation SNP C C T rs41543115 TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:31239532C>T uc003nsy.2 - 2 194 c.187G>A c.(187-189)GAC>AAC p.D63N HLA-C_uc011dnj.1_Missense_Mutation_p.D35N|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.D63N|HLA-C_uc010jsl.2_Missense_Mutation_p.D63N|HLA-C_uc003nta.2_Missense_Mutation_p.D63N|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 63 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 CTCGCGGCGTCGCTGTCGAAC 0.687 NaN 0 0 0 0.000781405 0 63 50 HSPA1A 3303 broad.mit.edu 37 6 31785219 31785219 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:31785219C>T uc003nxj.2 + 1 1929 c.1686C>T c.(1684-1686)ATC>ATT p.I562I HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.I325I|HSPA1A_uc003nxi.1_Silent_p.I397I|uc011dok.1_RNA NM_005345 NP_005336 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 562 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding ovary(1) 1 AGGGCAAGATCAGCGAGGCGG 0.587 NaN 0 0 0 0.000781405 0 53 64 EPHA7 2045 broad.mit.edu 37 6 93955099 93955099 + Silent SNP T T C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:93955099T>C uc003poe.2 - 16 3040 c.2799A>G c.(2797-2799)CAA>CAG p.Q933Q EPHA7_uc003pof.2_Silent_p.Q928Q|EPHA7_uc011eac.1_Silent_p.Q929Q NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 933 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TCTTAATAGCTTGTAGCCATT 0.378 NaN 0 0 0 0.000227799 0 29 78 HACE1 57531 broad.mit.edu 37 6 105225170 105225170 + Nonsense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr6:105225170C>T uc003pqu.1 - 15 1866 c.1589G>A c.(1588-1590)TGG>TAG p.W530* HACE1_uc010kcy.1_Nonsense_Mutation_p.W12*|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Nonsense_Mutation_p.W183* NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 530 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TTCATAGAACCATTCACAGCG 0.373 NaN 0 0 0 0.000781405 0 48 99 CREB5 9586 broad.mit.edu 37 7 28843821 28843821 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr7:28843821G>A uc003szq.2 + 8 1098 c.708G>A c.(706-708)TTG>TTA p.L236L CREB5_uc003szo.2_Silent_p.L203L|CREB5_uc003szr.2_Silent_p.L229L|CREB5_uc003szs.2_Silent_p.L97L NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 236 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TTCAGAGGTTGAAGGCTGCAT 0.453 NaN 0 0 0 0.00058488 0 33 43 ASB4 51666 broad.mit.edu 37 7 95157438 95157438 + Silent SNP C C T rs142833028 TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr7:95157438C>T uc011kij.1 + 3 801 c.801C>T c.(799-801)CTC>CTT p.L267L ASB4_uc003unx.2_Silent_p.L267L NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 267 ANK 6. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) ACCACGTGCTCATGCACATGA 0.562 NaN OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000175454 0 22 42 DOCK4 9732 broad.mit.edu 37 7 111422965 111422965 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr7:111422965C>T uc003vfx.2 - 34 3782 c.3513G>A c.(3511-3513)ATG>ATA p.M1171I DOCK4_uc011kml.1_Missense_Mutation_p.M52I|DOCK4_uc011kmm.1_Missense_Mutation_p.M78I|DOCK4_uc003vfw.2_Missense_Mutation_p.M621I|DOCK4_uc003vfy.2_Missense_Mutation_p.M1216I NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1171 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTACCTCTCCCATTTTCATGC 0.373 NaN 0 0 0 0.000509022 0 41 108 TGS1 96764 broad.mit.edu 37 8 56711557 56711557 + Missense_Mutation SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr8:56711557G>A uc003xsj.3 + 8 2014 c.1627G>A c.(1627-1629)GCT>ACT p.A543T TGS1_uc010lyh.2_Missense_Mutation_p.A447T NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 543 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TGTGCACGACGCTTCCACAAG 0.388 NaN 0 0 0 0.00047179 0 23 48 C8orf45 157777 broad.mit.edu 37 8 67786681 67786681 + Missense_Mutation SNP T T C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr8:67786681T>C uc003xwz.3 + 3 386 c.215T>C c.(214-216)GTC>GCC p.V72A C8orf45_uc003xwv.2_Missense_Mutation_p.V72A|C8orf45_uc011lev.1_Missense_Mutation_p.V72A|C8orf45_uc011lew.1_Intron|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.V72A NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 72 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCTGCTGAAGTCTTTCAATCA 0.303 NaN 0 0 0 0.000279167 0 28 61 CDKN2B 1030 broad.mit.edu 37 9 22008871 22008871 + Missense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr9:22008871C>G uc003zpo.2 - 1 442 c.82G>C c.(82-84)GAG>CAG p.E28Q MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_Missense_Mutation_p.E28Q NM_004936 NP_004927 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B isoform 1 28 ANK 1; truncated. cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) CGCACCTTCTCCACTAGTCCC 0.716 NaN Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System OREG0019127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000274275 0 9 16 ASPN 54829 broad.mit.edu 37 9 95219645 95219645 + Nonsense_Mutation SNP G G T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr9:95219645G>T uc004ase.1 - 8 1312 c.1068C>A c.(1066-1068)TAC>TAA p.Y356* CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN asporin precursor 356 LRR 10. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding 0 GCATTTCCCAGTATTTCACCG 0.378 NaN 1 0 4.35082e-09 0.000175454 4.24383e-08 20 39 STXBP1 6812 broad.mit.edu 37 9 130438119 130438119 + Missense_Mutation SNP A A T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr9:130438119A>T uc004brl.2 + 14 1344 c.1147A>T c.(1147-1149)ATC>TTC p.I383F STXBP1_uc004brk.2_Missense_Mutation_p.I383F NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 383 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 GGGAGAGAAGATCAAGGACCC 0.488 NaN 0 0 0 0.000151284 0 12 40 CCBL1 883 broad.mit.edu 37 9 131600026 131600026 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr9:131600026C>T uc004bwh.2 - 6 690 c.505G>A c.(505-507)GGC>AGC p.G169S CCBL1_uc004bwf.2_Missense_Mutation_p.G203S|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.G169S|CCBL1_uc004bwj.2_Missense_Mutation_p.G119S|CCBL1_uc011mbl.1_Missense_Mutation_p.G263S|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Intron NM_004059 NP_004050 Q16773 KAT1_HUMAN kynurenine aminotransferase I isoform a 169 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) GTGAATTTGCCGGCCAGCTCC 0.622 NaN 0 0 0 0.000308642 0 13 127 IQSEC2 23096 broad.mit.edu 37 X 53283763 53283763 + Silent SNP A A G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chrX:53283763A>G uc004dsd.2 - 4 1551 c.1350T>C c.(1348-1350)TCT>TCC p.S450S IQSEC2_uc004dsc.2_Silent_p.S245S NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 440 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 AAAACTCTCCAGATGTGGTGA 0.572 NaN 0 0 0 0.000184323 0 27 30 EFNB1 1947 broad.mit.edu 37 X 68060145 68060145 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chrX:68060145C>T uc004dxd.3 + 5 1469 c.689C>T c.(688-690)CCT>CTT p.P230L EFNB1_uc004dxe.2_Missense_Mutation_p.P230L NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 230 Extracellular (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 AGCGGGGACCCTGATGGCTTC 0.582 NaN 0 0 0 8.12818e-05 0 6 31 SLC6A14 11254 broad.mit.edu 37 X 115584268 115584268 + Missense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chrX:115584268C>T uc004eqi.2 + 9 1350 c.1246C>T c.(1246-1248)CTT>TTT p.L416F NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 416 Helical; Name=8; (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) TTTTTTCATGCTTTTAACTTT 0.378 NaN 0 0 0 0.000720815 0 26 11 LONRF3 79836 broad.mit.edu 37 X 118109240 118109240 + Nonsense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chrX:118109240C>G uc004eqw.2 + 1 528 c.497C>G c.(496-498)TCA>TGA p.S166* LONRF3_uc004eqx.2_Nonsense_Mutation_p.S166*|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 166 RING-type 1. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 GGGTTTCTATCAGACCCCGTG 0.672 NaN 0 0 0 0.00047179 0 21 6 ARID1A 8289 broad.mit.edu 37 1 27102153 27102153 + Frame_Shift_Del DEL C C - TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr1:27102153delC uc001bmv.1 + 19 5452 c.5079delC c.(5077-5079)ATCfs p.I1693fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.I1692fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.I1476fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.I539fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.I21fs|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1693 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) CCATCAACATCCTGCTGTATG 0.498 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 27 59 --- --- CNTNAP4 85445 broad.mit.edu 37 16 76481915 76481915 + Frame_Shift_Del DEL A A - TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr16:76481915delA uc002feu.1 + 7 930 c.545delA c.(544-546)GAAfs p.E182fs CNTNAP4_uc002fev.1_Frame_Shift_Del_p.E94fs|CNTNAP4_uc010chb.1_Frame_Shift_Del_p.E157fs|CNTNAP4_uc002fex.1_Frame_Shift_Del_p.E185fs|CNTNAP4_uc002few.2_Frame_Shift_Del_p.E157fs NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 182 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CTAGGATCAGAAGTGGTTGAT 0.308 NaN NaN NaN NaN NaN NaN 21 69 --- --- PTRF 284119 broad.mit.edu 37 17 40556948 40556949 + Frame_Shift_Del DEL GC GC - TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr17:40556948_40556949delGC uc002hzo.2 - 2 1088_1089 c.929_930delGC c.(928-930)CGCfs p.R310fs PTRF_uc010wgi.1_Frame_Shift_Del_p.R292fs NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 310 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CGGTCTTGGAGCGCGCGTACAC 0.649 NaN NaN NaN NaN NaN NaN 26 94 --- --- QPCT 25797 broad.mit.edu 37 2 37596833 37596834 + Frame_Shift_Ins INS - - T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr2:37596833_37596834insT uc002rqg.2 + 5 851_852 c.729_730insT c.(727-732)TTATTGfs p.L243fs QPCT_uc002rqh.2_Frame_Shift_Ins_p.L194fs NM_012413 NP_036545 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase precursor 243_244 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1) 1 Ovarian(717;0.051)|all_hematologic(82;0.21) CTCAGGATTTATTGGTCTTATT 0.366 NaN NaN NaN NaN NaN NaN 31 70 --- --- TLE4 7091 broad.mit.edu 37 9 82267521 82267521 + Frame_Shift_Del DEL C C - TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e327841-eef0-42dd-883e-7d5b5a0d3a93 ca6fa0fa-acad-4b0e-8fa7-33391d18e353 g.chr9:82267521delC uc004ald.2 + 7 1232 c.383delC c.(382-384)GCCfs p.A128fs TLE4_uc004alc.2_Frame_Shift_Del_p.A135fs|TLE4_uc010mpr.2_Frame_Shift_Del_p.A14fs|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Frame_Shift_Del_p.A103fs|TLE4_uc010mps.2_Frame_Shift_Del_p.A128fs|TLE4_uc004alf.2_Frame_Shift_Del_p.A74fs NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CAACTCCAGGCCCAGCATTTA 0.532 NaN NaN NaN NaN NaN NaN 70 174 --- ---