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 H6PD 9563 broad.mit.edu 37 1 9324741 9324741 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:9324741G>T uc001apt.2 + 5 2462 c.2189G>T c.(2188-2190)AGC>ATC p.S730I NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 730 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CGCCGCATGAGCCTTAGCCTG 0.652 NaN 1 0 3.27435e-08 0.00245 3.62959e-08 8 27 DDI2 84301 broad.mit.edu 37 1 15978267 15978267 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:15978267C>G uc001awx.1 + 8 1156 c.1060C>G c.(1060-1062)CCT>GCT p.P354A DDI2_uc009voj.1_Missense_Mutation_p.P95A NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 354 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CACCTTTCTTCCTGAGGGAGA 0.502 NaN 0 0 0 0.010729 0 9 50 GRHL3 57822 broad.mit.edu 37 1 24668758 24668758 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:24668758G>T uc001biy.2 + 9 1262 c.1216G>T c.(1216-1218)GAC>TAC p.D406Y GRHL3_uc001bix.2_Missense_Mutation_p.D401Y|GRHL3_uc001biz.2_Missense_Mutation_p.D308Y NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 401 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GATCTTCTGTGACAAGGTGGC 0.577 NaN 1 0 2.43468e-25 0.01441 3.16105e-25 41 30 EXTL1 2134 broad.mit.edu 37 1 26349272 26349272 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:26349272C>T uc001blf.2 + 1 1002 c.135C>T c.(133-135)GGC>GGT p.G45G NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 45 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCCAAGGCTGGCCCCGCT 0.652 NaN 0 0 0 0.004482 0 7 9 UBXN11 91544 broad.mit.edu 37 1 26610895 26610895 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:26610895G>A uc001blw.2 - 12 1204 c.931C>T c.(931-933)CAG>TAG p.Q311* UBXN11_uc001blz.1_Nonsense_Mutation_p.Q278*|UBXN11_uc001blv.2_Nonsense_Mutation_p.Q273*|UBXN11_uc001bly.2_Nonsense_Mutation_p.Q191*|UBXN11_uc001blx.2_Nonsense_Mutation_p.Q69*|UBXN11_uc001bma.2_Nonsense_Mutation_p.Q278*|UBXN11_uc001bmb.1_Nonsense_Mutation_p.Q311*|UBXN11_uc010ofb.1_3'UTR|UBXN11_uc010ofc.1_3'UTR NM_183008 NP_892120 Q5T124 UBX11_HUMAN socius isoform 2 311 cytoplasm|cytoskeleton ovary(1) 1 TGCATCAGCTGCCTGCCCACC 0.627 NaN 0 0 0 0.00499 0 14 33 GRIK3 2899 broad.mit.edu 37 1 37270762 37270762 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:37270762C>T uc001caz.2 - 15 2526 c.2391G>A c.(2389-2391)GAG>GAA p.E797E GRIK3_uc001cba.1_Silent_p.E797E NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 797 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCCACCACTTCTCCTTCATGA 0.602 NaN 0 0 0 0.014323 0 20 62 MACF1 23499 broad.mit.edu 37 1 39802313 39802313 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:39802313C>A uc010oiu.1 + 1 5504 c.5373C>A c.(5371-5373)TTC>TTA p.F1791L MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3356 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAGCCCTTCAGAGCAACTC 0.418 NaN 1 0 9.31168e-06 0.001855 9.90156e-06 12 10 PTPRF 5792 broad.mit.edu 37 1 44086245 44086245 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:44086245G>T uc001cjr.2 + 31 5699 c.5359G>T c.(5359-5361)GCC>TCC p.A1787S PTPRF_uc001cjs.2_Missense_Mutation_p.A1778S|PTPRF_uc001cju.2_Missense_Mutation_p.A1176S|PTPRF_uc009vwt.2_Missense_Mutation_p.A1347S|PTPRF_uc001cjv.2_Missense_Mutation_p.A1258S|PTPRF_uc001cjw.2_Missense_Mutation_p.A1013S NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1787 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGTCACGGATGCCCGGGTGAG 0.552 NaN 1 0 3.07415e-52 0.01441 4.17588e-52 113 126 PODN 127435 broad.mit.edu 37 1 53540317 53540317 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:53540317A>G uc001cuv.2 + 4 597 c.590A>G c.(589-591)AAT>AGT p.N197S PODN_uc001cuw.2_Missense_Mutation_p.N178S|PODN_uc010onr.1_Missense_Mutation_p.N178S|PODN_uc010ons.1_Intron NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 149 LRR 3. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 ACCAACCTCAATTACCTGTAC 0.562 NaN 0 0 0 0.01441 0 50 192 USP24 23358 broad.mit.edu 37 1 55562240 55562240 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:55562240C>A uc001cyg.3 - 47 5512 c.5512G>T c.(5512-5514)GAC>TAC p.D1838Y NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1998 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 TCATTTAGGTCAAATTCTTCT 0.323 NaN 1 0 1.36615e-20 0.013726 1.69865e-20 28 11 PRKAA2 5563 broad.mit.edu 37 1 57169954 57169954 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:57169954C>A uc001cyk.3 + 7 1170 c.1099C>A c.(1099-1101)CCA>ACA p.P367T NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 367 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 GAAACCTCATCCAGAAAGGAT 0.468 NaN 1 0 1.96642e-18 0.006999 2.39434e-18 36 20 GPSM2 29899 broad.mit.edu 37 1 109439511 109439511 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:109439511G>T uc010ovc.1 + 3 578 c.82G>T c.(82-84)GCC>TCC p.A28S AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.A28S|GPSM2_uc010ove.1_Missense_Mutation_p.A28S NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 28 TPR 1. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) CCTAGAGCTGGCCTTGGAAGG 0.418 NaN 1 0 2.79147e-13 0.01441 3.27997e-13 40 135 OR10T2 128360 broad.mit.edu 37 1 158369175 158369175 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:158369175G>A uc010pih.1 - 1 82 c.82C>T c.(82-84)CTT>TTT p.L28F NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) ATGACAAAAAGCAGCAGCTGG 0.488 NaN 0 0 0 0.00308 0 6 27 ATP1A2 477 broad.mit.edu 37 1 160109741 160109741 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:160109741G>A uc001fvc.2 + 22 3133 c.3001G>A c.(3001-3003)GTC>ATC p.V1001I ATP1A2_uc001fvd.2_Missense_Mutation_p.V720I NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 1001 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTATGATGAGGTCCGAAAGCT 0.582 NaN 0 0 0 0.011902 0 33 68 LMX1A 4009 broad.mit.edu 37 1 165175152 165175152 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:165175152G>A uc001gcy.1 - 7 1158 c.937C>T c.(937-939)CGA>TGA p.R313* LMX1A_uc001gcz.1_Nonsense_Mutation_p.R313*|LMX1A_uc001gcw.1_Nonsense_Mutation_p.R31*|LMX1A_uc001gcx.1_Nonsense_Mutation_p.R64* NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 313 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) AGACCCTGTCGGAAGGGATCT 0.582 NaN 0 0 0 0.010504 0 18 56 LRRC52 440699 broad.mit.edu 37 1 165532872 165532872 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:165532872C>T uc001gde.2 + 2 809 c.753C>T c.(751-753)ATC>ATT p.I251I LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 251 Helical; (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TGCTGCTCATCGGCTTCTGCA 0.587 NaN 0 0 0 0.003163 0 13 35 FMO3 2328 broad.mit.edu 37 1 171073019 171073019 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:171073019G>A uc001ghi.2 + 3 337 c.226G>A c.(226-228)GAT>AAT p.D76N FMO3_uc001ghh.2_Missense_Mutation_p.D76N|FMO3_uc010pmb.1_Missense_Mutation_p.D56N|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 76 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCCATTTCCCGATGACTTCCC 0.423 NaN 0 0 0 0.012213 0 31 20 FMO2 2327 broad.mit.edu 37 1 171162520 171162520 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:171162520C>T uc001ghk.1 + 3 296 c.179C>T c.(178-180)ACC>ATC p.T60I FMO2_uc010pmd.1_5'UTR NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 60 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTGTCGTTACCAACACCAGC 0.348 NaN 0 0 0 0.01441 0 75 62 KDM5B 10765 broad.mit.edu 37 1 202709880 202709880 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:202709880T>C uc001gyf.2 - 20 3122 c.3006A>G c.(3004-3006)GCA>GCG p.A1002A KDM5B_uc009xag.2_Silent_p.A1038A|KDM5B_uc001gyg.1_Silent_p.A844A NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1002 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 TGGGCAGATATGCAGGGATCT 0.443 NaN 0 0 0 0.001855 0 11 47 MDM4 4194 broad.mit.edu 37 1 204511994 204511994 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:204511994G>A uc001hba.2 + 8 756 c.594G>A c.(592-594)CTG>CTA p.L198L MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Silent_p.L71L|MDM4_uc001hay.1_Silent_p.L198L|MDM4_uc001hbb.2_Silent_p.L71L|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 198 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TAGCTGGCCTGCCTTGGTGGT 0.388 NaN A GBM|bladder|retinoblastoma 0 0 0 0.00278 0 19 39 SRGAP2 23380 broad.mit.edu 37 1 206626557 206626557 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:206626557A>G uc001hdy.2 + 17 2263 c.1930A>G c.(1930-1932)ATC>GTC p.I644V SRGAP2_uc010prt.1_Missense_Mutation_p.I567V|SRGAP2_uc001hdx.2_Missense_Mutation_p.I644V|SRGAP2_uc010pru.1_Missense_Mutation_p.I567V|SRGAP2_uc010prv.1_Missense_Mutation_p.I568V NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 731 SH3. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) ATGTGAGCCCATCGAGGCCAT 0.522 NaN 0 0 0 0.004672 0 2 2 MYO3A 53904 broad.mit.edu 37 10 26463335 26463335 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:26463335C>T uc001isn.2 + 30 4502 c.4142C>T c.(4141-4143)ACA>ATA p.T1381I MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1381 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGGATTGTCACAACACCAACA 0.398 NaN 0 0 0 0.01441 0 44 66 ZNF25 219749 broad.mit.edu 37 10 38241661 38241661 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:38241661C>T uc001ize.1 - 6 870 c.765G>A c.(763-765)GAG>GAA p.E255E ZNF25_uc001izf.1_Silent_p.E219E NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) CATAGGGTTTCTCCCCTGTGT 0.443 NaN 0 0 0 0.006999 0 36 96 LRIT1 26103 broad.mit.edu 37 10 85997383 85997383 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:85997383G>A uc001kcz.1 - 2 204 c.182C>T c.(181-183)ACC>ATC p.T61I NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 61 LRR 1.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 CAGTCTGGAGGTGTCCGGGGG 0.662 NaN 0 0 0 0.01441 0 44 9 GRK5 2869 broad.mit.edu 37 10 121189924 121189924 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:121189924G>A uc001led.2 + 7 804 c.571G>A c.(571-573)GTG>ATG p.V191M GRK5_uc009xzh.2_Missense_Mutation_p.V86M|GRK5_uc010qta.1_Missense_Mutation_p.V86M NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 191 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GCAGTATCGAGTGCTAGGAAA 0.458 NaN 0 0 0 0.01441 0 46 54 C10orf88 80007 broad.mit.edu 37 10 124692098 124692098 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:124692098C>A uc001lgw.2 - 6 1408 c.1183G>T c.(1183-1185)GAT>TAT p.D395Y C10orf88_uc001lgx.2_Missense_Mutation_p.D297Y NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 395 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TCAATGTAATCCATAAGTTTC 0.353 NaN 1 0 2.0095e-06 0.001984 2.18626e-06 6 24 LRDD 55367 broad.mit.edu 37 11 800221 800221 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:800221C>T uc001lro.1 - 14 2326 c.2184G>A c.(2182-2184)GTG>GTA p.V728V SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.V711V|LRDD_uc001lrl.1_Silent_p.V571V|LRDD_uc001lrm.1_Silent_p.V415V|LRDD_uc001lrn.1_Silent_p.V571V|LRDD_uc001lrp.1_Silent_p.V373V NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 728 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGCACAGGCACCGCGCCAC 0.687 NaN 0 0 0 0.008291 0 8 18 ABCC8 6833 broad.mit.edu 37 11 17414623 17414623 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:17414623C>A uc001mnc.2 - 39 4787 c.4661G>T c.(4660-4662)GGT>GTT p.G1554V NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1554 Cytoplasmic (By similarity).|ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AAGGATGGCACCCCGCTTCAG 0.617 NaN 1 0 7.48243e-07 0.006214 8.25526e-07 9 25 NELL1 4745 broad.mit.edu 37 11 20940871 20940871 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:20940871G>C uc001mqe.2 + 7 903 c.750G>C c.(748-750)ATG>ATC p.M250I NELL1_uc001mqf.2_Missense_Mutation_p.M250I|NELL1_uc009yid.2_Missense_Mutation_p.M278I|NELL1_uc010rdo.1_Missense_Mutation_p.M193I|NELL1_uc010rdp.1_Missense_Mutation_p.M10I NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 250 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TGGCCAAGATGACTGCAAAAG 0.323 NaN 0 0 0 0.003755 0 28 40 MAPK8IP1 9479 broad.mit.edu 37 11 45924441 45924441 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:45924441T>C uc001nbr.2 + 5 1293 c.1123T>C c.(1123-1125)TCC>CCC p.S375P NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 375 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) CAGCGCCCTGTCCTATGACTC 0.672 NaN 0 0 0 0.001984 0 5 3 OR4C15 81309 broad.mit.edu 37 11 55322269 55322269 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:55322269G>T uc010rig.1 + 1 487 c.487G>T c.(487-489)GTG>TTG p.V163L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTTGCTGGGGTGGAGGTGAT 0.473 NaN HNSCC(20;0.049) 1 0 6.21321e-17 0.00278 7.48772e-17 19 124 STX5 6811 broad.mit.edu 37 11 62592798 62592798 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:62592798G>C uc001nvh.2 - 7 708 c.554C>G c.(553-555)TCT>TGT p.S185C STX5_uc010rmi.1_Missense_Mutation_p.S89C|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.S131C|STX5_uc010rmj.1_Missense_Mutation_p.S185C|STX5_uc001nvj.2_5'UTR NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 185 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 ATTGGACATAGAAGCCAGTTT 0.493 NaN 0 0 0 0.01441 0 234 155 NRXN2 9379 broad.mit.edu 37 11 64374714 64374714 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:64374714G>A uc001oap.2 - 8 2466 c.1955C>T c.(1954-1956)ACG>ATG p.T652M NRXN2_uc001oar.2_Missense_Mutation_p.T1698M|NRXN2_uc001oas.2_Missense_Mutation_p.T1628M|NRXN2_uc001oao.2_Missense_Mutation_p.T338M|NRXN2_uc001oaq.2_Missense_Mutation_p.T1365M NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 652 Cytoplasmic (Potential). cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CTTGCTGGGCGTCTTGGGGGC 0.637 NaN 0 0 0 0.008291 0 9 31 NRXN2 9379 broad.mit.edu 37 11 64428312 64428312 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:64428312G>A uc001oar.2 - 11 2537 c.2098C>T c.(2098-2100)CGC>TGC p.R700C NRXN2_uc001oas.2_Missense_Mutation_p.R669C|NRXN2_uc001oaq.2_Missense_Mutation_p.R367C NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCCCCATTGCGACAGGGGGCA 0.647 NaN 0 0 0 0.01441 0 41 29 SAC3D1 29901 broad.mit.edu 37 11 64811717 64811717 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:64811717G>A uc001ocm.2 + 2 984 c.595G>A c.(595-597)GAG>AAG p.E199K SAC3D1_uc010rnv.1_Missense_Mutation_p.E186K NM_013299 NP_037431 SAC3 domain containing 1 0 AGCCCTGCATGAGGTTCTACA 0.642 NaN 0 0 0 0.003163 0 14 56 SNX32 254122 broad.mit.edu 37 11 65617466 65617466 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:65617466G>T uc001ofr.2 + 3 344 c.217G>T c.(217-219)GCC>TCC p.A73S SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.A73S NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 73 PX. cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) GCTGCATGATGCCTACGTGGA 0.632 NaN 1 0 1.56738e-10 0.004289 1.78803e-10 31 22 RBM14 10432 broad.mit.edu 37 11 66384255 66384255 + Missense_Mutation SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:66384255T>A uc001oit.2 + 1 203 c.64T>A c.(64-66)TTT>ATT p.F22I RBM14_uc009yrh.2_Missense_Mutation_p.F22I|RBM14_uc009yri.2_Missense_Mutation_p.F22I|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.F22I NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 22 RRM 1. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GGCAGCCCTCTTTGCGCCCTA 0.647 NaN 0 0 0 0.000602 0 4 17 DNAJB13 374407 broad.mit.edu 37 11 73670624 73670624 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:73670624G>C uc001ouo.2 + 3 1009 c.258G>C c.(256-258)TGG>TGC p.W86C NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein 86 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) AGACCCCATGGACAACTGGTT 0.522 NaN 0 0 0 0.01441 0 73 23 C2CD3 26005 broad.mit.edu 37 11 73817441 73817441 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:73817441C>A uc001ouu.2 - 13 2287 c.2060G>T c.(2059-2061)GGT>GTT p.G687V NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 687 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TGGAGACTGACCATTTTCTTG 0.383 NaN 1 0 2.32173e-10 0.004878 2.63579e-10 30 87 CAPN5 726 broad.mit.edu 37 11 76796098 76796098 + Splice_Site SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:76796098G>T uc001oxx.2 + 2 350 c.165_splice c.e2+1 p.K55_splice CAPN5_uc009yup.2_Splice_Site_p.K55_splice|CAPN5_uc009yuq.2_Splice_Site_p.K91_splice|CAPN5_uc001oxy.2_Splice_Site_p.K95_splice NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 GCGACCCAAGGTCAGTGTCTG 0.677 NaN 1 0 8.12818e-05 0.001984 8.48944e-05 6 28 ACAT1 38 broad.mit.edu 37 11 108009666 108009666 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:108009666T>C uc001pjy.2 + 6 553 c.477T>C c.(475-477)GTT>GTC p.V159V ACAT1_uc001pjx.2_Silent_p.V33V NM_000019 NP_000010 P24752 THIL_HUMAN acetyl-Coenzyme A acetyltransferase 1 precursor 159 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding ovary(3) 3 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) TGTCCAATGTTCCATATGTAA 0.398 NaN 0 0 0 0.01441 0 54 171 HINFP 25988 broad.mit.edu 37 11 118997680 118997680 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:118997680G>A uc001pvp.2 + 3 215 c.26G>A c.(25-27)CGA>CAA p.R9Q HINFP_uc010rzb.1_Missense_Mutation_p.R9Q|HINFP_uc001pvq.2_Missense_Mutation_p.R9Q NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 9 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AAAGTTCCCCGAAAGGAGAAT 0.537 NaN 0 0 0 0.01441 0 80 46 KCNH3 23416 broad.mit.edu 37 12 49944089 49944089 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:49944089G>T uc001ruh.1 + 10 2155 c.1895G>T c.(1894-1896)GGT>GTT p.G632V KCNH3_uc010smj.1_Missense_Mutation_p.G572V NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 632 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 GTGCTCAAGGGTGGCACCGTG 0.632 NaN 1 0 6.12954e-19 0.004656 7.5023e-19 18 78 GTSF1 121355 broad.mit.edu 37 12 54854248 54854248 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:54854248T>C uc001sgb.2 - 7 486 c.400A>G c.(400-402)AGC>GGC p.S134G NM_144594 NP_653195 Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 134 metal ion binding 0 Myeloproliferative disorder(1001;0.00452) ACTATGTTGCTCGCAGGGCTG 0.413 NaN 0 0 0 0.008871 0 18 27 SILV 6490 broad.mit.edu 37 12 56355112 56355112 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:56355112G>T uc001sip.2 - 3 354 c.323C>A c.(322-324)ACC>AAC p.T108N SILV_uc001siq.2_Missense_Mutation_p.T108N|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Missense_Mutation_p.T108N NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 108 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 ATTGATGATGGTATTGTTGAC 0.488 NaN 1 0 9.8876e-21 0.004878 1.23595e-20 32 19 ERBB3 2065 broad.mit.edu 37 12 56481649 56481649 + Missense_Mutation SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 T A T T Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:56481649T>A uc001sjh.2 + 6 877 c.684T>A c.(682-684)CAT>CAA p.H228Q ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169Q|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 228 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGTGCTGCCATGATGAGTGTG 0.537 NaN 0 0 0 0.01441 0 52 121 CEP290 80184 broad.mit.edu 37 12 88486515 88486515 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:88486515C>A uc001tar.2 - 29 3748 c.3404G>T c.(3403-3405)AGG>ATG p.R1135M CEP290_uc001taq.2_Missense_Mutation_p.R195M NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1135 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 AATCCGTTGCCTATCAGCATC 0.368 NaN 1 0 1.16021e-09 0.007291 1.30454e-09 28 59 SRRM4 84530 broad.mit.edu 37 12 119568521 119568521 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:119568521G>A uc001txa.1 + 8 945 c.653G>A c.(652-654)CGC>CAC p.R218H NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 218 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CAGAAGTCCCGCCGAAGGCAC 0.652 NaN 0 0 0 0.008291 0 11 10 TCTN2 79867 broad.mit.edu 37 12 124158196 124158196 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:124158196G>T uc001ufp.2 + 4 430 c.302G>T c.(301-303)GGT>GTT p.G101V TCTN2_uc009zya.2_Missense_Mutation_p.G100V NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 101 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGGAAGAGAGGTCTGGACTGG 0.433 NaN 1 0 2.48779e-11 0.005443 2.86584e-11 21 71 TMEM132B 114795 broad.mit.edu 37 12 126135372 126135372 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:126135372G>T uc001uhe.1 + 7 1780 c.1772G>T c.(1771-1773)GGC>GTC p.G591V TMEM132B_uc001uhf.1_Missense_Mutation_p.G103V NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 591 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TACATGCTGGGCCCCGACTGG 0.597 NaN 1 0 2.21704e-12 0.00278 2.57922e-12 18 53 CDK8 1024 broad.mit.edu 37 13 26828866 26828866 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:26828866G>T uc001uqr.1 + 1 114 c.88G>T c.(88-90)GGC>TGC p.G30C CDK8_uc001uqs.1_Missense_Mutation_p.G30C|CDK8_uc001uqt.1_Translation_Start_Site NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 30 Protein kinase.|ATP (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGTTGGCCGAGGCACTTATGG 0.592 NaN 1 0 5.3912e-06 0.006122 5.81162e-06 16 21 N4BP2L2 10443 broad.mit.edu 37 13 33096357 33096357 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:33096357T>C uc001uuk.3 - 4 1613 c.1435A>G c.(1435-1437)AAT>GAT p.N479D N4BP2L2_uc001uuj.2_5'UTR|N4BP2L2_uc010abe.1_Missense_Mutation_p.N50D|N4BP2L2_uc010tdz.1_Missense_Mutation_p.N35D NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 479 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GCTTGTATATTAGTGTTATCT 0.254 NaN 0 0 0 0.01441 0 51 68 RB1 5925 broad.mit.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T rs121913303 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:48955538C>T uc001vcb.2 + 17 1820 c.1654C>T c.(1654-1656)CGA>TGA p.R552* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 552 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7)|p.R552*(5) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACATTTAGAACGATGTGAACA 0.323 R552*(NCIH1048_LUNG) 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.00278 0 17 24 KLHL1 57626 broad.mit.edu 37 13 70314576 70314576 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:70314576G>A uc001vip.2 - 8 2546 c.1752C>T c.(1750-1752)GCC>GCT p.A584A KLHL1_uc010thm.1_Silent_p.A523A NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 584 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGACATACTGGCTACAAATG 0.403 NaN 0 0 0 0.006999 0 31 42 GPC5 2262 broad.mit.edu 37 13 92560246 92560246 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:92560246G>A uc010tif.1 + 6 1702 c.1336G>A c.(1336-1338)GTC>ATC p.V446I NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 446 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AAATCCTGAAGTCAAAGTCAA 0.378 NaN 0 0 0 0.007835 0 36 38 FAM179B 23116 broad.mit.edu 37 14 45431955 45431955 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:45431955G>A uc001wvv.2 + 1 540 c.331G>A c.(331-333)GAG>AAG p.E111K FAM179B_uc001wvw.2_Missense_Mutation_p.E111K|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.E111K|FAM179B_uc001wvu.2_Missense_Mutation_p.E111K NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 111 binding skin(2)|upper_aerodigestive_tract(1) 3 GGATCCTTCTGAGGCCTTCCA 0.622 NaN 0 0 0 0.009535 0 24 71 SYT16 83851 broad.mit.edu 37 14 62547819 62547819 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:62547819G>C uc001xfu.1 + 4 1458 c.1261G>C c.(1261-1263)GCC>CCC p.A421P SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 421 C2 1. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGTCACCTTTGCCAAGCTGGA 0.567 NaN 0 0 0 0.004007 0 12 10 KIAA1409 57578 broad.mit.edu 37 14 94004365 94004365 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:94004365G>C uc001ybv.1 + 9 705 c.622G>C c.(622-624)GTC>CTC p.V208L KIAA1409_uc001ybs.1_Missense_Mutation_p.V208L|KIAA1409_uc001ybu.1_Missense_Mutation_p.V146L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 385 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAGAGCAGTTGTCACCTGCTT 0.468 NaN 0 0 0 0.004656 0 23 22 SHC4 399694 broad.mit.edu 37 15 49118194 49118194 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:49118194G>C uc001zxb.1 - 12 2296 c.1867C>G c.(1867-1869)CCA>GCA p.P623A SHC4_uc010uey.1_Missense_Mutation_p.P380A|SHC4_uc010uez.1_Missense_Mutation_p.P337A NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 623 intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) AAAAGTGCTGGATTATTATCT 0.373 NaN 0 0 0 0.01441 0 47 127 PSTPIP1 9051 broad.mit.edu 37 15 77323595 77323595 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:77323595C>T uc002bcf.2 + 10 1167 c.717C>T c.(715-717)TCC>TCT p.S239S PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_Silent_p.S117S|PSTPIP1_uc010bku.1_Silent_p.S230S|PSTPIP1_uc002bcg.2_Silent_p.S239S|PSTPIP1_uc010bkw.1_Silent_p.S239S|PSTPIP1_uc002bch.1_5'UTR|PSTPIP1_uc002bci.1_5'Flank NM_003978 NP_003969 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting 239 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity ovary(1) 1 ACCAGCTCTCCATGCAGTGTG 0.617 NaN 0 0 0 0.01441 0 65 100 LRRK1 79705 broad.mit.edu 37 15 101595287 101595287 + Silent SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:101595287T>A uc002bwr.2 + 27 4510 c.4191T>A c.(4189-4191)CTT>CTA p.L1397L LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1397 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTGGTCCCTTGACGTCAAGG 0.532 NaN 0 0 0 0.007291 0 22 59 ZNF205 7755 broad.mit.edu 37 16 3168975 3168975 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:3168975G>T uc002cub.2 + 6 689 c.554G>T c.(553-555)CGG>CTG p.R185L ZNF205_uc002cua.2_Missense_Mutation_p.R185L NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 185 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GGCTCCAGCCGGCAGGCAGGA 0.667 NaN 1 0 3.09479e-21 0.006999 3.91008e-21 31 62 ANKS3 124401 broad.mit.edu 37 16 4764077 4764077 + Silent SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:4764077C>G uc002cxj.1 - 7 979 c.684G>C c.(682-684)CTG>CTC p.L228L ANKS3_uc002cxi.1_Silent_p.L155L|ANKS3_uc002cxk.2_Silent_p.L99L|ANKS3_uc002cxl.2_Silent_p.L55L|ANKS3_uc010uxs.1_Silent_p.L155L|ANKS3_uc002cxm.2_Silent_p.L22L NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 228 0 GGCTCTTGGGCAGAGAGGGCG 0.607 NaN 0 0 0 0.007413 0 18 36 RBBP6 5930 broad.mit.edu 37 16 24582981 24582981 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:24582981A>G uc002dmh.2 + 18 5634 c.4594A>G c.(4594-4596)AGT>GGT p.S1532G RBBP6_uc002dmi.2_Missense_Mutation_p.S1498G|RBBP6_uc010bxr.2_Missense_Mutation_p.S692G|RBBP6_uc002dmk.2_Missense_Mutation_p.S1365G NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1532 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) TTCCAAAAAAAGTAATTCTAG 0.373 NaN 0 0 0 0.009096 0 3 14 ATXN2L 11273 broad.mit.edu 37 16 28834730 28834730 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:28834730G>T uc002drc.2 + 1 318 c.150G>T c.(148-150)GGG>GGT p.G50G uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.G50G|ATXN2L_uc002drb.2_Silent_p.G50G|ATXN2L_uc002dqy.2_Silent_p.G50G|ATXN2L_uc002dra.2_Silent_p.G50G|ATXN2L_uc002dqz.2_Silent_p.G50G|ATXN2L_uc010vdb.1_Silent_p.G50G|ATXN2L_uc002dre.2_Silent_p.G50G NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 50 Pro-rich. membrane upper_aerodigestive_tract(1)|ovary(1) 2 CTCCTCCCGGGCCTCCAGCGG 0.821 NaN 1 0 0.00909568 0.009096 0.00925318 2 2 CPNE2 221184 broad.mit.edu 37 16 57157339 57157339 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:57157339A>G uc002eks.1 + 10 1110 c.881A>G c.(880-882)TAC>TGC p.Y294C CPNE2_uc010cct.1_Missense_Mutation_p.Y320C|CPNE2_uc010ccu.1_Missense_Mutation_p.Y294C|CPNE2_uc002ekt.1_5'Flank NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 294 central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) AACCGAGACTACTCCTTCCTT 0.498 NaN 0 0 0 0.01441 0 63 72 CES2 8824 broad.mit.edu 37 16 66969416 66969416 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:66969416C>G uc002eqr.2 + 1 1070 c.70C>G c.(70-72)CCC>GCC p.P24A CES2_uc002eqq.2_Missense_Mutation_p.P24A|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 Error:Variant_position_missing_in_O00748_after_alignment catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CCCGCTGACTCCCTGCCCAGT 0.662 NaN 0 0 0 0.01441 0 46 165 ATMIN 23300 broad.mit.edu 37 16 81076953 81076953 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:81076953C>G uc002ffz.1 + 4 868 c.850C>G c.(850-852)CTT>GTT p.L284V ATMIN_uc002fga.2_Missense_Mutation_p.L126V|ATMIN_uc010vnn.1_Missense_Mutation_p.L55V|ATMIN_uc002fgb.1_Missense_Mutation_p.L126V NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 284 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding 0 CAAGCAGACTCTTACAACACC 0.433 NaN 0 0 0 0.003271 0 33 59 CDH13 1012 broad.mit.edu 37 16 82891976 82891976 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:82891976C>T uc002fgx.2 + 2 175 c.55C>T c.(55-57)CTA>TTA p.L19L CDH13_uc010chh.2_Silent_p.L19L|CDH13_uc010vns.1_Silent_p.L66L|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.L19L NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 19 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGTGCTGCTGCTAACATCTGC 0.418 NaN 0 0 0 0.004878 0 35 28 BANP 54971 broad.mit.edu 37 16 88008777 88008777 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:88008777G>C uc002fkr.2 + 2 277 c.53G>C c.(52-54)AGC>ACC p.S18T BANP_uc002fkp.2_Missense_Mutation_p.S19T|BANP_uc002fkq.2_Missense_Mutation_p.S19T|BANP_uc010vow.1_Missense_Mutation_p.S18T|BANP_uc002fks.3_Missense_Mutation_p.S18T|BANP_uc002fko.1_Intron|BANP_uc010vov.1_Missense_Mutation_p.S18T NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 19 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) GAAGACCTGAGCCCTGACCAC 0.473 NaN 0 0 0 0.003271 0 26 50 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.006999 0 34 17 CHD3 1107 broad.mit.edu 37 17 7802505 7802505 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:7802505C>T uc002gje.2 + 14 2478 c.2328C>T c.(2326-2328)TAC>TAT p.Y776Y CHD3_uc002gjd.2_Silent_p.Y835Y|CHD3_uc002gjf.2_Silent_p.Y776Y NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 776 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TCTTCCTCTACTCACTCTACA 0.567 NaN 0 0 0 0.01441 0 58 18 C17orf48 56985 broad.mit.edu 37 17 10608309 10608309 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:10608309C>T uc002gmt.2 + 2 141 c.66C>T c.(64-66)GTC>GTT p.V22V C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.V22V NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 22 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 CCTTTGGCGTCATCGCAGATG 0.423 NaN 0 0 0 0.004482 0 8 48 SSH2 85464 broad.mit.edu 37 17 27959241 27959241 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:27959241G>T uc002heo.1 - 15 2890 c.2890C>A c.(2890-2892)CAC>AAC p.H964N SSH2_uc010wbh.1_Missense_Mutation_p.H991N NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 964 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TCTGGCAAGTGGTCAAACTCC 0.547 NaN 1 0 1.64293e-13 0.00333 1.94015e-13 23 19 LRRC37B 114659 broad.mit.edu 37 17 30348423 30348423 + Silent SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:30348423G>C uc002hgu.2 + 1 269 c.258G>C c.(256-258)CTG>CTC p.L86L LRRC37B_uc010wbx.1_Silent_p.L4L|LRRC37B_uc010csu.2_Silent_p.L86L NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 86 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TGTCAGCCCTGCCTCAGGAAC 0.592 NaN 0 0 0 0.004007 0 16 57 AMAC1 146861 broad.mit.edu 37 17 33520917 33520917 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:33520917G>T uc002hjd.2 - 1 496 c.410C>A c.(409-411)TCT>TAT p.S137Y NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 137 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GACGGTGGAAGAACCTTTGCG 0.587 NaN 1 0 1.48734e-19 0.013114 1.82997e-19 32 136 MAP3K14 9020 broad.mit.edu 37 17 43351496 43351496 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:43351496C>G uc002iiw.1 - 9 1655 c.1546G>C c.(1546-1548)GTC>CTC p.V516L MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.V100L NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 516 Interaction with ZFP91.|Protein kinase. cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 TTACCTTTGACGTCCCCATGC 0.617 NaN 0 0 0 0.009096 0 3 3 ATP5G1 516 broad.mit.edu 37 17 46971758 46971758 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:46971758A>G uc002iog.2 + 3 198 c.64A>G c.(64-66)ATC>GTC p.I22V ATP5G1_uc002ioh.2_Missense_Mutation_p.I22V NM_005175 NP_005166 P05496 AT5G1_HUMAN ATP synthase, H+ transporting, mitochondrial F0 22 ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding 0 CAGGGGTCTAATCAGGCCTGT 0.438 NaN 0 0 0 0.01441 0 50 125 MFSD11 79157 broad.mit.edu 37 17 74740413 74740413 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:74740413G>C uc002jta.2 + 8 1479 c.506G>C c.(505-507)CGA>CCA p.R169P MFSD11_uc002jtb.2_Missense_Mutation_p.R169P|MFSD11_uc010dha.2_Missense_Mutation_p.R117P|MFSD11_uc002jtc.2_Missense_Mutation_p.R169P|MFSD11_uc002jtd.3_Missense_Mutation_p.R169P|MFSD11_uc010dhb.2_Missense_Mutation_p.R117P|MFSD11_uc002jte.2_Missense_Mutation_p.R169P NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 169 integral to membrane ovary(1) 1 GAGAGTGACCGAAGAACAGTG 0.413 NaN 0 0 0 0.004289 0 25 48 TSPAN10 83882 broad.mit.edu 37 17 79612041 79612041 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:79612041C>T uc010die.2 + 2 150 c.60C>T c.(58-60)CTC>CTT p.L20L TSPAN10_uc002kaw.1_Silent_p.L20L|TSPAN10_uc010did.1_RNA NM_031945 NP_114151 Q9H1Z9 TSN10_HUMAN tetraspanin 10 20 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGAAGCCCCTCTCTGTGCACA 0.647 NaN 0 0 0 0.013537 0 10 28 NDC80 10403 broad.mit.edu 37 18 2575029 2575029 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr18:2575029C>T uc002kli.2 + 3 325 c.143C>T c.(142-144)CCG>CTG p.P48L NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 48 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 ATAAACAAACCGACATCTGAA 0.303 NaN 0 0 0 0.004007 0 10 12 RNF152 220441 broad.mit.edu 37 18 59483323 59483323 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr18:59483323C>G uc002lih.1 - 2 786 c.374G>C c.(373-375)AGC>ACC p.S125T NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 125 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) CTTCTGCTGGCTCCCGGGCAG 0.662 NaN 0 0 0 0.00333 0 19 7 MLLT1 4298 broad.mit.edu 37 19 6230639 6230639 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:6230639T>C uc002mek.2 - 4 526 c.362A>G c.(361-363)AAG>AGG p.K121R NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 121 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 GAAGGTGAGCTTCTCGCAGCG 0.647 NaN T MLL AL 0 0 0 0.01441 0 83 31 CNN1 1264 broad.mit.edu 37 19 11660487 11660487 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:11660487C>A uc002msc.1 + 7 935 c.771C>A c.(769-771)GGC>GGA p.G257G CNN1_uc010xmb.1_Silent_p.G207G|CNN1_uc010xmc.1_Silent_p.G207G NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 257 Calponin-like 3. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 CGCAGCGGGGCATGACGGTGT 0.652 NaN 1 0 7.76418e-22 0.005443 9.91621e-22 28 9 MED26 9441 broad.mit.edu 37 19 16686879 16686879 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:16686879C>T uc002nen.1 - 3 2023 c.1762G>A c.(1762-1764)GAC>AAC p.D588N MED26_uc002nee.2_Intron NM_004831 NP_004822 O95402 MED26_HUMAN mediator complex subunit 26 588 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity ovary(2) 2 AAGCGCCCGTCGTCGCCGTGC 0.537 NaN 0 0 0 0.01441 0 45 6 GMIP 51291 broad.mit.edu 37 19 19740837 19740837 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:19740837C>T uc002nnd.2 - 21 2965 c.2848G>A c.(2848-2850)GAG>AAG p.E950K LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.E924K|GMIP_uc010xrc.1_Missense_Mutation_p.E921K NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 950 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GGCACAGCCTCGCTGTCCAAT 0.637 NaN 0 0 0 0.004672 0 2 1 ZNF536 9745 broad.mit.edu 37 19 31039827 31039827 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:31039827G>A uc002nsu.1 + 4 3439 c.3301G>A c.(3301-3303)GAC>AAC p.D1101N ZNF536_uc010edd.1_Missense_Mutation_p.D1101N NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGGCCACGTGGACCCTGCATT 0.542 NaN 0 0 0 0.004656 0 21 41 ZNF302 55900 broad.mit.edu 37 19 35175840 35175840 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:35175840C>G uc002nvr.1 + 6 1293 c.1030C>G c.(1030-1032)CTC>GTC p.L344V ZNF302_uc002nvp.1_Missense_Mutation_p.L300V|ZNF302_uc002nvq.1_Missense_Mutation_p.L300V|ZNF302_uc002nvs.1_Missense_Mutation_p.L300V NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 379 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGTGTCCCTTCTCATTCAGCA 0.423 NaN 0 0 0 0.00245 0 12 50 ZNF420 147923 broad.mit.edu 37 19 37619520 37619520 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:37619520G>A uc002ofl.2 + 5 1842 c.1627G>A c.(1627-1629)GGC>AGC p.G543S NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 543 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTTGCGCGTGGCTTACTACT 0.413 NaN 0 0 0 0.00632 0 28 54 PLEKHG2 64857 broad.mit.edu 37 19 39913486 39913486 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:39913486G>A uc010xuz.1 + 18 2117 c.1792G>A c.(1792-1794)GAA>AAA p.E598K PLEKHG2_uc010xuy.1_Missense_Mutation_p.E539K|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E376K NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 598 Poly-Glu. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGAGGAGGAGGAAGAGGAAGG 0.602 NaN 0 0 0 0.000602 0 5 12 ZNF780A 284323 broad.mit.edu 37 19 40580973 40580973 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:40580973T>C uc002omy.2 - 6 1601 c.1376A>G c.(1375-1377)CAA>CGA p.Q459R ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q459R|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q460R NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 459 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTCAATAAGTTGGCAATGATA 0.403 NaN 0 0 0 0.01441 0 68 104 PLD3 23646 broad.mit.edu 37 19 40882622 40882622 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:40882622G>C uc002onm.3 + 11 1524 c.1126G>C c.(1126-1128)GCC>CCC p.A376P PLD3_uc002onj.3_Missense_Mutation_p.A376P|PLD3_uc002onk.3_Missense_Mutation_p.A376P|PLD3_uc002onl.3_Missense_Mutation_p.A376P|PLD3_uc002onn.2_Missense_Mutation_p.A376P NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 376 Lumenal (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) ATCCATGCGGGCCTTCCTGCT 0.652 NaN 0 0 0 0.01441 0 43 53 LIPE 3991 broad.mit.edu 37 19 42911490 42911490 + Missense_Mutation SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:42911490T>A uc002otr.2 - 6 2250 c.1973A>T c.(1972-1974)CAG>CTG p.Q658L uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 658 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) TCTGGAGGTCTGGGCCACAAA 0.687 NaN 0 0 0 0.001984 0 6 5 KCNN4 3783 broad.mit.edu 37 19 44284956 44284956 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:44284956C>T uc002oxl.2 - 1 454 c.58G>A c.(58-60)GAG>AAG p.E20K KCNN4_uc010eja.1_RNA NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 20 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TTCTCCTGCTCCAGCAAGCGC 0.662 NaN 0 0 0 0.01441 0 53 83 DHX34 9704 broad.mit.edu 37 19 47876898 47876898 + Missense_Mutation SNP C C T rs141177029 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:47876898C>T uc010xyn.1 + 9 2346 c.2005C>T c.(2005-2007)CGC>TGC p.R669C NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 669 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GTGGTGCCGCCGCCGGGGCAT 0.657 NaN 0 0 0 0.003954 0 17 30 MYBPC2 4606 broad.mit.edu 37 19 50961863 50961863 + Silent SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:50961863C>G uc002psf.2 + 21 2409 c.2358C>G c.(2356-2358)GCC>GCG p.A786A NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 786 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GGGTCCCTGCCAACACCGAGC 0.657 NaN 0 0 0 0.00499 0 14 34 BIRC8 112401 broad.mit.edu 37 19 53793189 53793189 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:53793189C>G uc002qbk.2 - 1 1687 c.439G>C c.(439-441)GAG>CAG p.E147Q NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 147 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) ACAAGAACCTCAAGCGTTTTA 0.398 NaN 0 0 0 0.004289 0 31 70 ZNF331 55422 broad.mit.edu 37 19 54080062 54080062 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:54080062G>T uc002qbx.1 + 7 1682 c.248G>T c.(247-249)TGG>TTG p.W83L ZNF331_uc002qby.1_Missense_Mutation_p.W83L|ZNF331_uc002qbz.1_Missense_Mutation_p.W83L|ZNF331_uc002qca.1_Missense_Mutation_p.W83L|ZNF331_uc010eqr.1_Missense_Mutation_p.W83L|ZNF331_uc002qcb.1_Missense_Mutation_p.W83L|ZNF331_uc002qcc.1_Missense_Mutation_p.W83L|ZNF331_uc002qcd.1_Missense_Mutation_p.W83L NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) GGCCGTAACTGGATATGTGAA 0.398 NaN T NaN follicular thyroid adenoma 1 0 3.86212e-05 0.008291 4.05178e-05 10 51 LILRB1 10859 broad.mit.edu 37 19 55148021 55148021 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:55148021C>T uc002qgj.2 + 15 2064 c.1724C>T c.(1723-1725)GCC>GTC p.A575V LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.A576V|LILRB1_uc002qgk.2_Missense_Mutation_p.A576V|LILRB1_uc002qgm.2_Missense_Mutation_p.A577V|LILRB1_uc010erq.2_Missense_Mutation_p.A559V|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 575 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) AGAGAAATGGCCTCTCCTCCT 0.582 NaN HNSCC(37;0.09) 0 0 0 0.010818 0 28 31 NLRP8 126205 broad.mit.edu 37 19 56482062 56482062 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:56482062C>T uc002qmh.2 + 6 2605 c.2534C>T c.(2533-2535)TCG>TTG p.S845L NLRP8_uc010etg.2_Missense_Mutation_p.S845L NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 845 LRR 3. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGAGGCTGTCGTAAGTCTCC 0.473 NaN 0 0 0 0.01441 0 66 94 ZNF324B 388569 broad.mit.edu 37 19 58965138 58965138 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:58965138G>A uc002qsv.1 + 2 177 c.70G>A c.(70-72)GCC>ACC p.A24T ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.A24T NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGCGCAGAGGGCCCTGTACCG 0.567 NaN 0 0 0 0.01441 0 39 58 ZBTB45 84878 broad.mit.edu 37 19 59028486 59028486 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:59028486T>C uc002qtd.2 - 2 847 c.555A>G c.(553-555)CCA>CCG p.P185P ZBTB45_uc002qte.2_Silent_p.P185P|ZBTB45_uc002qtf.2_Silent_p.P185P NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 185 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) TGGCAGGTGTTGGGGGCGCTG 0.692 NaN OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013726 0 31 36 TPO 7173 broad.mit.edu 37 2 1488451 1488451 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:1488451C>A uc002qww.2 + 9 1513 c.1422C>A c.(1420-1422)GAC>GAA p.D474E TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D474E|TPO_uc002qwr.2_Missense_Mutation_p.D474E|TPO_uc002qwx.2_Missense_Mutation_p.D474E|TPO_uc010yio.1_Missense_Mutation_p.D301E|TPO_uc010yip.1_Missense_Mutation_p.D474E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 474 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGGCTATGACTCCACCGCCA 0.602 NaN 1 0 7.26314e-15 0.007291 8.70836e-15 28 32 MSGN1 343930 broad.mit.edu 37 2 17998252 17998252 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:17998252G>A uc010yjt.1 + 1 467 c.467G>A c.(466-468)AGC>AAC p.S156N NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 156 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCTGTCTACAGCCAGAGAGGC 0.587 NaN 0 0 0 0.001855 0 12 27 RHOB 388 broad.mit.edu 37 2 20647449 20647449 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:20647449C>T uc002rdv.2 + 1 615 c.223C>T c.(223-225)CCG>TCG p.P75S NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 75 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GCTCTCCTACCCGGACACCGA 0.647 NaN 0 0 0 0.01441 0 52 54 C2orf44 80304 broad.mit.edu 37 2 24254029 24254029 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:24254029G>A uc002rep.2 - 4 2071 c.1940C>T c.(1939-1941)TCC>TTC p.S647F C2orf44_uc010eya.2_Missense_Mutation_p.P608S NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 647 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATCCAGTGGGAATCTGCAAA 0.363 NaN 0 0 0 0.001984 0 7 15 IFT172 26160 broad.mit.edu 37 2 27672643 27672643 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:27672643C>A uc002rku.2 - 37 4126 c.4075G>T c.(4075-4077)GAC>TAC p.D1359Y IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1359 TPR 11. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TTGACAAGGTCCAGATTCAGA 0.522 NaN 1 0 5.57489e-27 0.01441 7.31899e-27 47 44 FSHR 2492 broad.mit.edu 37 2 49189908 49189908 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:49189908G>A uc002rww.2 - 10 2126 c.2052C>T c.(2050-2052)TAC>TAT p.Y684Y FSHR_uc002rwx.2_Silent_p.Y622Y|FSHR_uc010fbn.2_Silent_p.Y658Y NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 684 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GGACAAGTATGTAAGTGGAAC 0.358 NaN Gonadal_Dysgenesis_46_XX 0 0 0 0.003954 0 20 54 EHBP1 23301 broad.mit.edu 37 2 63176182 63176182 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:63176182G>A uc002sby.2 + 14 2788 c.2306G>A c.(2305-2307)AGT>AAT p.S769N EHBP1_uc010fcp.2_Missense_Mutation_p.S734N|EHBP1_uc002sbz.2_Missense_Mutation_p.S734N|EHBP1_uc002scb.2_Missense_Mutation_p.S734N NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 769 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TACTCATATAGTAGAGATCTA 0.373 NaN Hereditary_Prostate_Cancer 0 0 0 0.010504 0 20 13 SFTPB 6439 broad.mit.edu 37 2 85894867 85894867 + Nonsense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:85894867C>A uc002sqh.2 - 2 136 c.130G>T c.(130-132)GAG>TAG p.E44* SFTPB_uc002sqi.2_Nonsense_Mutation_p.E56*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.E44* NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 44 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 AATGCTTGCTCCAGGCTTTGG 0.592 NaN 1 0 4.88482e-21 0.01441 6.13868e-21 50 35 TBC1D8 11138 broad.mit.edu 37 2 101624308 101624308 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:101624308G>A uc010fiv.2 - 20 3529 c.3398C>T c.(3397-3399)TCT>TTT p.S1133F RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.S890F NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 1133 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CTTAAGTTCAGATTGTGATTG 0.423 NaN 0 0 0 0.00874 0 33 142 TBC1D8 11138 broad.mit.edu 37 2 101624437 101624437 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:101624437G>C uc010fiv.2 - 20 3400 c.3269C>G c.(3268-3270)GCT>GGT p.A1090G RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.A847G NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 1090 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CAGAAGTGAAGCTAAAATATG 0.448 NaN 0 0 0 0.009096 0 4 37 TGFBRAP1 9392 broad.mit.edu 37 2 105890144 105890144 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:105890144C>T uc002tcq.2 - 9 1753 c.1669G>A c.(1669-1671)GGA>AGA p.G557R TGFBRAP1_uc010fjc.2_Intron|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.G557R NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 557 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 ACCTGAACTCCGACCTGAAAG 0.403 NaN 0 0 0 0.00308 0 5 21 ATF2 1386 broad.mit.edu 37 2 175979453 175979453 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:175979453T>C uc002ujl.2 - 8 853 c.591A>G c.(589-591)GTA>GTG p.V197V ATF2_uc010fqv.2_Silent_p.V148V|ATF2_uc002ujv.2_5'UTR|ATF2_uc002ujm.2_Silent_p.V139V|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.V197V|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.V179V|ATF2_uc002ujs.2_Silent_p.V139V|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Silent_p.V139V|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Silent_p.V197V NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 197 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) CCTGGGTGATTACAGTACTTG 0.403 NaN 0 0 0 0.01441 0 118 93 TTN 7273 broad.mit.edu 37 2 179613658 179613658 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:179613658A>G uc002unb.2 - 46 13693 c.13469T>C c.(13468-13470)ATT>ACT p.I4490T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTCATCAATCTTCTTTTG 0.313 NaN 0 0 0 0.003954 0 23 19 TTN 7273 broad.mit.edu 37 2 179649056 179649056 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:179649056A>G uc010zfg.1 - 16 2740 c.2516T>C c.(2515-2517)ATT>ACT p.I839T TTN_uc010zfh.1_Missense_Mutation_p.I793T|TTN_uc010zfi.1_Missense_Mutation_p.I793T|TTN_uc010zfj.1_Missense_Mutation_p.I793T|TTN_uc002unb.2_Missense_Mutation_p.I839T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 839 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAATGTGGCAATAGCACTACC 0.468 NaN 0 0 0 0.003271 0 27 30 CCDC108 255101 broad.mit.edu 37 2 219900359 219900359 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:219900359G>A uc002vjl.1 - 5 469 c.385C>T c.(385-387)CAC>TAC p.H129Y CCDC108_uc010zkp.1_Missense_Mutation_p.H118Y|CCDC108_uc010zkq.1_Missense_Mutation_p.H64Y|CCDC108_uc002vjn.2_Missense_Mutation_p.H64Y NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 129 H -> R (in Ref. 1; BAC86878). integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTTGGGGAGTGCATCTGAGTG 0.567 NaN 0 0 0 0.01441 0 63 16 SCG2 7857 broad.mit.edu 37 2 224462395 224462395 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:224462395C>G uc002vnm.2 - 2 1739 c.1606G>C c.(1606-1608)GAC>CAC p.D536H NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 536 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCTGCAGGTCATCTTCAGAT 0.468 NaN 0 0 0 0.014323 0 19 10 RALGAPA2 57186 broad.mit.edu 37 20 20610169 20610169 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:20610169C>A uc002wrz.2 - 10 1214 c.1071G>T c.(1069-1071)CAG>CAT p.Q357H RALGAPA2_uc010gcx.2_Missense_Mutation_p.Q61H|RALGAPA2_uc010zsg.1_Translation_Start_Site NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 357 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GGCTTTTGTCCTGCTCCGTGG 0.537 NaN 1 0 2.27795e-59 0.01441 3.11231e-59 104 111 WFDC3 140686 broad.mit.edu 37 20 44418583 44418583 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:44418583G>T uc002xpf.1 - 2 116 c.32C>A c.(31-33)GCA>GAA p.A11E DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_Intron|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron NM_080614 NP_542181 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 precursor 11 extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) AGCAAGAAGTGCCTTCAGAAG 0.483 NaN 1 0 6.53348e-20 0.003755 8.08088e-20 28 63 ZNF831 128611 broad.mit.edu 37 20 57768368 57768368 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:57768368C>T uc002yan.2 + 1 2294 c.2294C>T c.(2293-2295)CCT>CTT p.P765L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 765 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCCCCAGCACCTGGCCCCCTC 0.647 NaN 0 0 0 0.001168 0 5 9 DIDO1 11083 broad.mit.edu 37 20 61513072 61513072 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:61513072C>G uc002ydr.1 - 16 4500 c.4236G>C c.(4234-4236)AGG>AGC p.R1412S DIDO1_uc002yds.1_Missense_Mutation_p.R1412S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1412 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTTCAGGAGCCCTTTCCACCT 0.612 NaN 0 0 0 0.01441 0 69 70 SAMD10 140700 broad.mit.edu 37 20 62608657 62608657 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:62608657C>G uc002yhm.2 - 2 369 c.194G>C c.(193-195)TGG>TCG p.W65S SAMD10_uc002yhn.2_RNA NM_080621 NP_542188 Q9BYL1 SAM10_HUMAN sterile alpha motif domain containing 10 65 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGAGTCATGCCACGTGAGGCT 0.667 NaN 0 0 0 0.01441 0 98 80 PRPF6 24148 broad.mit.edu 37 20 62664245 62664245 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:62664245G>T uc002yho.2 + 21 2893 c.2725G>T c.(2725-2727)GGG>TGG p.G909W PRPF6_uc002yhp.2_Missense_Mutation_p.G869W|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 909 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GCCTCGGCATGGGGAGCTGTG 0.642 NaN 1 0 7.92952e-12 0.003954 9.1795e-12 25 23 MYT1 4661 broad.mit.edu 37 20 62871155 62871155 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:62871155A>G uc002yii.2 + 22 3500 c.3136A>G c.(3136-3138)AAC>GAC p.N1046D MYT1_uc002yij.2_Missense_Mutation_p.N705D|MYT1_uc002yik.2_Missense_Mutation_p.N12D NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1046 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGAGGAGGAGAACAAGCTCAT 0.572 NaN 0 0 0 0.01441 0 88 73 BAGE2 85319 broad.mit.edu 37 21 11097575 11097575 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr21:11097575C>A uc002yit.1 - 2 295 c.87G>T c.(85-87)TGG>TGT p.W29C BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gctccaacctccagctcacca 0.095 NaN 1 0 9.31168e-06 0.001855 9.90156e-06 11 79 PDE9A 5152 broad.mit.edu 37 21 44192566 44192566 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr21:44192566C>A uc002zbm.2 + 19 1767 c.1704C>A c.(1702-1704)GAC>GAA p.D568E PDE9A_uc002zbn.2_Missense_Mutation_p.D441E|PDE9A_uc002zbo.2_Missense_Mutation_p.D515E|PDE9A_uc002zbp.2_Missense_Mutation_p.D361E|PDE9A_uc002zbq.2_Missense_Mutation_p.D466E|PDE9A_uc002zbs.2_Missense_Mutation_p.D361E|PDE9A_uc002zbr.2_Missense_Mutation_p.D361E|PDE9A_uc002zbt.2_Missense_Mutation_p.D440E|PDE9A_uc002zbu.2_Missense_Mutation_p.D434E|PDE9A_uc002zbv.2_Missense_Mutation_p.D408E|PDE9A_uc002zbw.2_Missense_Mutation_p.D351E|PDE9A_uc002zbx.2_Missense_Mutation_p.D508E|PDE9A_uc002zby.2_Missense_Mutation_p.D351E|PDE9A_uc002zbz.2_Missense_Mutation_p.D460E|PDE9A_uc002zca.2_Missense_Mutation_p.D527E|PDE9A_uc002zcb.2_Missense_Mutation_p.D542E|PDE9A_uc002zcc.2_Missense_Mutation_p.D467E|PDE9A_uc002zcd.2_Missense_Mutation_p.D482E|PDE9A_uc002zce.2_Missense_Mutation_p.D501E|PDE9A_uc002zcf.2_Missense_Mutation_p.D361E|PDE9A_uc002zcg.2_Missense_Mutation_p.D361E|PDE9A_uc002zch.2_Missense_Mutation_p.D351E NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 568 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 AGAAGACTGACAGCTTGACGT 0.532 NaN 1 0 2.0095e-06 0.001984 2.18626e-06 5 18 OR11H1 81061 broad.mit.edu 37 22 16449133 16449133 + Silent SNP A A C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:16449133A>C uc011agd.1 - 1 672 c.672T>G c.(670-672)GGT>GGG p.G224G NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 224 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) AGAGGAAGTTACCAAAAATAA 0.433 NaN 0 0 0 0.01441 0 25 31 MYO18B 84700 broad.mit.edu 37 22 26173598 26173598 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:26173598G>T uc003abz.1 + 8 2168 c.1918G>T c.(1918-1920)GCA>TCA p.A640S MYO18B_uc003aca.1_Missense_Mutation_p.A521S|MYO18B_uc010guy.1_Missense_Mutation_p.A521S|MYO18B_uc010guz.1_Missense_Mutation_p.A521S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.A153S NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 640 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TGGCTCCATGGCACAGCGGGC 0.647 NaN 1 0 1.12685e-05 0.004482 1.19284e-05 6 30 MYO18B 84700 broad.mit.edu 37 22 26219621 26219621 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:26219621C>A uc003abz.1 + 13 2921 c.2671C>A c.(2671-2673)CTC>ATC p.L891I MYO18B_uc003aca.1_Missense_Mutation_p.L772I|MYO18B_uc010guy.1_Missense_Mutation_p.L772I|MYO18B_uc010guz.1_Missense_Mutation_p.L772I|MYO18B_uc011aka.1_Missense_Mutation_p.L45I|MYO18B_uc011akb.1_Missense_Mutation_p.L404I NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 891 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCGATGGGGCCTCGAGGATGA 0.597 NaN 1 0 3.45943e-77 0.01441 4.78215e-77 103 112 IL2RB 3560 broad.mit.edu 37 22 37524836 37524836 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:37524836G>T uc003aqv.1 - 10 1087 c.956C>A c.(955-957)GCA>GAA p.A319E NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 319 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GATCTCAGGTGCCAGGCCGCC 0.627 NaN 1 0 3.99206e-14 0.007413 4.7621e-14 14 37 SGSM3 27352 broad.mit.edu 37 22 40804819 40804819 + Silent SNP C C T rs140197200 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:40804819C>T uc003ayu.1 + 18 2084 c.1875C>T c.(1873-1875)GTC>GTT p.V625V SGSM3_uc011aos.1_Silent_p.V558V|SGSM3_uc011aot.1_Silent_p.V536V|SGSM3_uc010gyd.1_Silent_p.V696V NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 625 RUN. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 ATGGCAAAGTCCTGACCCCGG 0.652 NaN 0 0 0 0.012319 0 15 49 TEF 7008 broad.mit.edu 37 22 41783535 41783535 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:41783535G>A uc003azy.2 + 2 424 c.338G>A c.(337-339)AGC>AAC p.S113N TEF_uc003azx.2_Missense_Mutation_p.S83N|TEF_uc011apa.1_Missense_Mutation_p.S118N NM_003216 NP_003207 Q10587 TEF_HUMAN thyrotrophic embryonic factor isoform 1 113 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ATCCCCGCCAGCCCCACCCAC 0.587 NaN 0 0 0 0.01441 0 100 81 MAPK11 5600 broad.mit.edu 37 22 50705436 50705436 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:50705436C>T uc003bkr.2 - 7 595 c.537G>A c.(535-537)ATG>ATA p.M179I MAPK11_uc010hax.2_Missense_Mutation_p.M1I|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.M71I NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 179 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATAGCCGGTCATCTCCTCGT 0.657 NaN 0 0 0 0.010729 0 12 44 ZNF197 10168 broad.mit.edu 37 3 44685245 44685245 + Nonsense_Mutation SNP G G T rs61751651 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:44685245G>T uc003cnm.2 + 6 2829 c.2623G>T c.(2623-2625)GAA>TAA p.E875* ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 875 C2H2-type 19. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AAAAACCTACGAATGTCATGT 0.383 NaN 1 0 7.33532e-06 0.003954 7.87123e-06 22 44 CCR1 1230 broad.mit.edu 37 3 46245233 46245233 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:46245233C>T uc003cph.1 - 2 643 c.572G>A c.(571-573)AGC>AAC p.S191N CCR3_uc003cpg.1_Intron NM_001295 NP_001286 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 191 Extracellular (Potential). cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity skin(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTCTCGTAGGCTTTCGTGAGG 0.493 NaN 0 0 0 0.014323 0 21 37 LTF 4057 broad.mit.edu 37 3 46484956 46484956 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:46484956T>C uc003cpq.2 - 13 1669 c.1631A>G c.(1630-1632)TAC>TGC p.Y544C LTF_uc003fzr.2_Missense_Mutation_p.Y500C|LTF_uc010hjh.2_Missense_Mutation_p.Y542C|LTF_uc003cpr.2_Missense_Mutation_p.Y531C NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 544 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GTAGCCGTAGTATCTCTCGTT 0.542 NaN 0 0 0 0.01441 0 45 150 WDR6 11180 broad.mit.edu 37 3 49051677 49051677 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:49051677C>T uc003cvj.2 + 3 2845 c.2707C>T c.(2707-2709)CCC>TCC p.P903S WDR6_uc011bby.1_Missense_Mutation_p.P351S|WDR6_uc010hkn.2_Missense_Mutation_p.P847S|WDR6_uc011bbz.1_Missense_Mutation_p.P822S NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 873 WD 13. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) ACTTGACCAGCCCGGCCTTGG 0.577 NaN OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009535 0 24 29 DNAH1 25981 broad.mit.edu 37 3 52412779 52412779 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:52412779G>T uc011bef.1 + 47 7621 c.7360G>T c.(7360-7362)GAC>TAC p.D2454Y NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2454 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCTCATGGCTGACCCGGCCAA 0.627 NaN 1 0 6.15735e-50 0.01441 8.31596e-50 68 62 STAB1 23166 broad.mit.edu 37 3 52538860 52538860 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:52538860C>A uc003dej.2 + 12 1419 c.1345C>A c.(1345-1347)CAG>AAG p.Q449K STAB1_uc003dei.1_Missense_Mutation_p.Q449K NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 449 Extracellular (Potential).|FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCTGGCCGGGCAGGAGATCAC 0.607 NaN 1 0 0.000673444 0.008291 0.00069412 11 32 ARHGAP31 57514 broad.mit.edu 37 3 119120886 119120886 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:119120886G>A uc003ecj.3 + 10 1819 c.1287G>A c.(1285-1287)CCG>CCA p.P429P NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 429 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GGCCCCCACCGGAACAGCTGA 0.617 NaN 0 0 0 0.003163 0 15 46 EPHB1 2047 broad.mit.edu 37 3 134968233 134968233 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:134968233G>A uc003eqt.2 + 15 2966 c.2746G>A c.(2746-2748)GTG>ATG p.V916M EPHB1_uc003equ.2_Missense_Mutation_p.V477M NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 916 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CTTTACCACCGTGGATGACTG 0.587 NaN 0 0 0 0.009718 0 41 33 TBCCD1 55171 broad.mit.edu 37 3 186276258 186276258 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:186276258C>T uc003fqg.2 - 3 569 c.440G>A c.(439-441)AGA>AAA p.R147K TBCCD1_uc011bry.1_Missense_Mutation_p.R147K|TBCCD1_uc003fqh.2_Missense_Mutation_p.R51K NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 147 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding large_intestine(1)|ovary(1) 2 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) AGATTTGTTTCTGGGACTGGG 0.408 NaN 0 0 0 0.014323 0 19 81 TP63 8626 broad.mit.edu 37 3 189586386 189586386 + Missense_Mutation SNP G G A rs113993967 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:189586386G>A uc003fry.2 + 8 1099 c.1010G>A c.(1009-1011)CGA>CAA p.R337Q TP63_uc003frx.2_Missense_Mutation_p.R337Q|TP63_uc003frz.2_Missense_Mutation_p.R337Q|TP63_uc010hzc.1_Missense_Mutation_p.R337Q|TP63_uc003fsa.2_Missense_Mutation_p.R243Q|TP63_uc003fsb.2_Missense_Mutation_p.R243Q|TP63_uc003fsc.2_Missense_Mutation_p.R243Q|TP63_uc003fsd.2_Missense_Mutation_p.R243Q|TP63_uc010hzd.1_Missense_Mutation_p.R158Q|TP63_uc003fse.1_Missense_Mutation_p.R218Q NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 337 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTCCTGGGCCGACGCTGCTTT 0.483 NaN Hay-Wells_syndrome HNSCC(45;0.13) 0 0 0 0.001984 0 6 17 IL1RAP 3556 broad.mit.edu 37 3 190366314 190366314 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:190366314G>A uc003fsm.1 + 12 1739 c.1533G>A c.(1531-1533)GTG>GTA p.V511V IL1RAP_uc010hzg.1_Silent_p.V511V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V511V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 511 Cytoplasmic (Potential).|TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) AAACGAAGGTGAAAGAGCTGA 0.502 NaN 0 0 0 0.006122 0 15 68 TMEM175 84286 broad.mit.edu 37 4 951684 951684 + Silent SNP G G T rs141810982 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:951684G>T uc003gbq.2 + 11 1013 c.915G>T c.(913-915)GCG>GCT p.A305A TMEM175_uc003gbr.2_Silent_p.A223A|TMEM175_uc003gbu.2_Silent_p.A223A|TMEM175_uc003gbs.2_Silent_p.A188A|TMEM175_uc003gbt.2_Silent_p.A188A|TMEM175_uc003gbv.2_Silent_p.A188A|TMEM175_uc010ibm.2_Silent_p.A121A NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 305 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCCTGAGTGCGACCGGGCCGC 0.622 NaN 1 0 2.43468e-25 0.01441 3.16105e-25 46 47 WHSC1 7468 broad.mit.edu 37 4 1936889 1936889 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:1936889A>G uc003gdz.3 + 7 1750 c.1574A>G c.(1573-1575)AAA>AGA p.K525R WHSC1_uc003geb.3_Missense_Mutation_p.K525R|WHSC1_uc003gec.3_Missense_Mutation_p.K525R|WHSC1_uc003ged.3_Missense_Mutation_p.K525R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.K525R|WHSC1_uc010icd.1_Missense_Mutation_p.K525R|WHSC1_uc003gea.1_Missense_Mutation_p.K525R|WHSC1_uc010ice.1_Missense_Mutation_p.K525R|WHSC1_uc003geh.1_Missense_Mutation_p.K525R NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 525 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AATGGGAAAAAAAGAAACCAC 0.468 NaN T IGH@ MM 0 0 0 0.001168 0 6 19 C4orf14 84273 broad.mit.edu 37 4 57842717 57842717 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:57842717G>T uc003hck.2 - 1 1110 c.1035C>A c.(1033-1035)GGC>GGA p.G345G POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 345 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) CGTTGGTGGCGCCCACTAAGT 0.607 NaN 1 0 1.52009e-12 0.003163 1.77722e-12 14 40 BANK1 55024 broad.mit.edu 37 4 102946511 102946511 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:102946511C>G uc003hvy.3 + 9 1713 c.1439C>G c.(1438-1440)TCT>TGT p.S480C BANK1_uc003hvx.3_Missense_Mutation_p.S465C|BANK1_uc010ill.2_Missense_Mutation_p.S347C|BANK1_uc003hvz.3_Missense_Mutation_p.S450C NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 480 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGTGAGAGTTCTGAAGACCAG 0.493 NaN 0 0 0 0.00499 0 14 56 ANK2 287 broad.mit.edu 37 4 114278218 114278218 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:114278218A>G uc003ibe.3 + 38 8544 c.8444A>G c.(8443-8445)CAA>CGA p.Q2815R ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q117R|ANK2_uc011cgb.1_Missense_Mutation_p.Q2830R NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2782 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTAGCTCTCCAAGGCACTCAT 0.463 NaN 0 0 0 0.010818 0 30 36 GUCY1A3 2982 broad.mit.edu 37 4 156631721 156631721 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:156631721C>T uc003iov.2 + 7 940 c.404C>T c.(403-405)TCT>TTT p.S135F GUCY1A3_uc003iou.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S135F|GUCY1A3_uc003iow.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S134F|GUCY1A3_uc003iox.2_Missense_Mutation_p.S135F|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqe.2_Intron|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S135F NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 135 VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATCAAAGAATCTCTTGGTGAA 0.383 NaN 0 0 0 0.005524 0 30 25 AADAT 51166 broad.mit.edu 37 4 170988519 170988519 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:170988519T>C uc003isr.2 - 9 1263 c.921A>G c.(919-921)CTA>CTG p.L307L AADAT_uc003iss.2_Silent_p.L307L|AADAT_uc003ist.2_Silent_p.L311L NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 307 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCATTCGTGTAGAAGCTGTG 0.343 NaN 0 0 0 0.012213 0 25 31 FAT1 2195 broad.mit.edu 37 4 187525600 187525600 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:187525600C>A uc003izf.2 - 18 10667 c.10479G>T c.(10477-10479)CCG>CCT p.P3493P NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3493 Extracellular (Potential).|Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGACTCCTTGCGGGTTAACTT 0.433 NaN HNSCC(5;0.00058) 1 0 1.3612e-06 0.003163 1.49478e-06 12 31 LRRC14B 389257 broad.mit.edu 37 5 192543 192543 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:192543C>A uc003jal.1 + 1 918 c.890C>A c.(889-891)ACG>AAG p.T297K NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 297 LRR 1. skin(1) 1 AAGATCCCGACGCTGCTTGGG 0.657 NaN 1 0 0.000602214 0.000602 0.000623438 3 4 TERT 7015 broad.mit.edu 37 5 1294371 1294371 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:1294371G>A uc003jcb.1 - 2 688 c.630C>T c.(628-630)GCC>GCT p.A210A TERT_uc003jca.1_Silent_p.A210A|TERT_uc003jcc.1_Silent_p.A210A|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 210 RNA-interacting domain 1. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGGGACCCCGGCCTCCCTGA 0.746 NaN TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 0 0 0 0.009096 0 4 1 PDZD2 23037 broad.mit.edu 37 5 32059421 32059421 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:32059421C>G uc003jhl.2 + 13 2665 c.2277C>G c.(2275-2277)AGC>AGG p.S759R PDZD2_uc003jhm.2_Missense_Mutation_p.S759R|PDZD2_uc011cnx.1_Missense_Mutation_p.S585R NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 759 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 ACATTCACAGCCTTGCTCCAG 0.468 NaN 0 0 0 0.007413 0 16 15 MGC42105 167359 broad.mit.edu 37 5 43245942 43245942 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:43245942G>A uc003jno.2 + 2 946 c.65G>A c.(64-66)CGC>CAC p.R22H NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 22 ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 TGGGATCGGCGCGACAGTGTA 0.597 NaN 0 0 0 0.01441 0 75 57 RGS7BP 401190 broad.mit.edu 37 5 63871635 63871635 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:63871635C>T uc003jtj.2 + 3 367 c.367C>T c.(367-369)CGG>TGG p.R123W RGS7BP_uc011cqu.1_5'UTR NM_001029875 NP_001025046 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding 123 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane 0 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) AGAAATCTGTCGGCTTTACAT 0.433 NaN 0 0 0 0.007291 0 25 13 PCDHA11 56138 broad.mit.edu 37 5 140250447 140250447 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:140250447G>T uc003lia.2 + 1 2617 c.1759G>T c.(1759-1761)GGC>TGC p.G587C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G587C NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 587 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGGTGCGGGCCACGTGGT 0.677 NaN 1 0 1.13719e-10 0.008361 1.30361e-10 22 95 PCDH1 5097 broad.mit.edu 37 5 141233975 141233975 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:141233975T>C uc003llp.2 - 5 3463 c.3346A>G c.(3346-3348)ATG>GTG p.M1116V NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTGCCTGTCATGGCGACATCA 0.592 NaN 0 0 0 0.00245 0 10 39 GABRG2 2566 broad.mit.edu 37 5 161569191 161569191 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:161569191T>C uc003lyz.3 + 7 1149 c.791T>C c.(790-792)GTC>GCC p.V264A GABRG2_uc010jjc.2_Missense_Mutation_p.V304A|GABRG2_uc003lyy.3_Missense_Mutation_p.V264A|GABRG2_uc011dej.1_Missense_Mutation_p.V169A NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 264 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GTCATGTCTGTCTACTTTGAT 0.403 NaN 0 0 0 0.009535 0 24 144 GABBR1 2550 broad.mit.edu 37 6 29598366 29598366 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:29598366G>A uc003nmt.3 - 4 680 c.344C>T c.(343-345)ACG>ATG p.T115M GABBR1_uc003nmp.3_5'Flank|GABBR1_uc003nms.3_5'Flank|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Translation_Start_Site|GABBR1_uc011dls.1_Missense_Mutation_p.T115M NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 115 Extracellular (Potential).|Sushi 2. gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.T115M(1) ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GTCCCCACCCGTCAGGAAAAC 0.562 NaN 0 0 0 0.00499 0 14 33 SLC29A1 2030 broad.mit.edu 37 6 44197137 44197137 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:44197137G>C uc003owu.1 + 3 369 c.40G>C c.(40-42)GTC>CTC p.V14L SLC29A1_uc011dvp.1_Missense_Mutation_p.V33L|SLC29A1_uc003owv.1_Missense_Mutation_p.V14L|SLC29A1_uc003oww.1_Missense_Mutation_p.V93L|SLC29A1_uc011dvq.1_Missense_Mutation_p.V56L|SLC29A1_uc003owx.1_Missense_Mutation_p.V14L|SLC29A1_uc003owy.1_Missense_Mutation_p.V14L|SLC29A1_uc003owz.1_Missense_Mutation_p.V14L NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 14 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) ATACAAAGCTGTCTGGCTTAT 0.562 NaN 0 0 0 0.009718 0 34 17 CDC5L 988 broad.mit.edu 37 6 44361233 44361233 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:44361233G>A uc003oxl.2 + 4 621 c.362G>A c.(361-363)CGA>CAA p.R121Q NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 121 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GATGATCCACGAAAACTTAAA 0.408 NaN 0 0 0 0.00308 0 7 18 MDN1 23195 broad.mit.edu 37 6 90359913 90359913 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:90359913C>G uc003pnn.1 - 97 16152 c.16036G>C c.(16036-16038)GAC>CAC p.D5346H NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5346 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTTCGATAGTCTCCTCTATTT 0.348 NaN 0 0 0 0.003163 0 12 1 WISP3 8838 broad.mit.edu 37 6 112382385 112382385 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:112382385G>T uc003pvm.2 + 3 350 c.240G>T c.(238-240)AAG>AAT p.K80N WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.K98N NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 80 IGFBP N-terminal. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TCTGTGCCAAGCAACCAGGGG 0.537 NaN 1 0 6.4685e-43 0.01441 8.53987e-43 54 21 GPRC6A 222545 broad.mit.edu 37 6 117128326 117128326 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:117128326C>T uc003pxj.1 - 3 564 c.542G>A c.(541-543)CGC>CAC p.R181H GPRC6A_uc003pxk.1_Missense_Mutation_p.R181H|GPRC6A_uc003pxl.1_Missense_Mutation_p.R181H NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 181 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGAAGGAAAGCGAATTTTGTC 0.398 NaN 0 0 0 0.01441 0 44 26 CCDC28A 25901 broad.mit.edu 37 6 139097341 139097341 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:139097341C>A uc003qie.2 + 2 509 c.354C>A c.(352-354)GCC>GCA p.A118A uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 118 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) AAAAAAATGCCATTCCAGTGA 0.388 NaN 1 0 2.77807e-22 0.013114 3.58707e-22 40 10 SYNE1 23345 broad.mit.edu 37 6 152464820 152464820 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:152464820C>T uc010kiw.2 - 138 25659 c.25057G>A c.(25057-25059)GAA>AAA p.E8353K SYNE1_uc010kiv.2_Missense_Mutation_p.E2877K|SYNE1_uc003qos.3_Missense_Mutation_p.E2877K|SYNE1_uc003qot.3_Missense_Mutation_p.E8305K|SYNE1_uc003qou.3_Missense_Mutation_p.E8353K|SYNE1_uc003qop.3_Missense_Mutation_p.E538K|SYNE1_uc011eez.1_Missense_Mutation_p.E555K|SYNE1_uc003qoq.3_Missense_Mutation_p.E555K|SYNE1_uc003qor.3_Missense_Mutation_p.E1276K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8353 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGATATTTTCGGTTTGCTGT 0.532 NaN HNSCC(10;0.0054) 0 0 0 0.012319 0 19 52 MACC1 346389 broad.mit.edu 37 7 20199459 20199459 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:20199459C>T uc003sus.3 - 5 834 c.525G>A c.(523-525)CGG>CGA p.R175R MACC1_uc010kug.2_Silent_p.R175R NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 175 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TATAAGCCTCCCGATCATTTT 0.468 NaN 0 0 0 0.004482 0 8 68 DNAH11 8701 broad.mit.edu 37 7 21631013 21631013 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:21631013C>T uc003svc.2 + 14 2516 c.2485C>T c.(2485-2487)CGC>TGC p.R829C NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 829 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CAGAGTTGAGCGCACACAGAA 0.607 NaN Kartagener_syndrome 0 0 0 0.00499 0 14 33 C7orf30 115416 broad.mit.edu 37 7 23347511 23347511 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:23347511G>T uc003swd.1 + 3 492 c.460G>T c.(460-462)GAC>TAC p.D154Y C7orf30_uc003swe.2_5'Flank NM_138446 NP_612455 Q96EH3 CG030_HUMAN hypothetical protein LOC115416 154 mitochondrion 0 GBM - Glioblastoma multiforme(13;0.154) ATGTAAACGTGACCCTCATGT 0.428 NaN 1 0 9.68594e-22 0.01441 1.23038e-21 49 81 MUC17 140453 broad.mit.edu 37 7 100678782 100678782 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:100678782T>C uc003uxp.1 + 3 4138 c.4085T>C c.(4084-4086)GTT>GCT p.V1362A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1362 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACAACTCCTGTTGACAACAGC 0.453 NaN 0 0 0 0.01441 0 169 238 SYPL1 6856 broad.mit.edu 37 7 105732326 105732326 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:105732326C>A uc003vdp.2 - 6 787 c.705G>T c.(703-705)GAG>GAT p.E235D SYPL1_uc003vdo.2_Missense_Mutation_p.E217D NM_006754 NP_006745 Q16563 SYPL1_HUMAN synaptophysin-like 1 isoform a 235 Cytoplasmic (Potential).|MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity 0 GTAGGCTGGTCTCCTTGTACA 0.383 NaN 1 0 2.38262e-10 0.010771 2.69191e-10 35 39 FLNC 2318 broad.mit.edu 37 7 128471003 128471003 + Silent SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:128471003C>G uc003vnz.3 + 1 521 c.312C>G c.(310-312)CTC>CTG p.L104L FLNC_uc003voa.3_Silent_p.L104L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 104 CH 1.|Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCGTGGCCCTCGAGTTCCTCG 0.657 NaN 0 0 0 0.007835 0 32 37 DGKI 9162 broad.mit.edu 37 7 137271869 137271869 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:137271869G>T uc003vtt.2 - 13 1400 c.1399C>A c.(1399-1401)CTG>ATG p.L467M DGKI_uc003vtu.2_Missense_Mutation_p.L167M NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 467 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GTTCGAGCCAGGTCATTCCCA 0.552 NaN 1 0 7.7325e-45 0.01441 1.03246e-44 46 81 RP1L1 94137 broad.mit.edu 37 8 10469938 10469938 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:10469938C>T uc003wtc.2 - 4 1899 c.1670G>A c.(1669-1671)GGC>GAC p.G557D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 557 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCTTGCCTTGCCTGGACAGCC 0.657 NaN 0 0 0 0.004656 0 24 39 GATA4 2626 broad.mit.edu 37 8 11615912 11615912 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:11615912G>A uc003wuc.2 + 7 1811 c.1257G>A c.(1255-1257)CAG>CAA p.Q419Q GATA4_uc003wub.1_Silent_p.Q213Q|GATA4_uc011kxc.1_Silent_p.Q420Q|uc003wud.1_5'Flank NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 419 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) AGTCTCCACAGACCAGCTCCA 0.587 NaN 0 0 0 0.013726 0 27 47 TNFRSF10D 8793 broad.mit.edu 37 8 23004489 23004489 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:23004489C>T uc003xcz.1 - 4 559 c.467G>A c.(466-468)CGG>CAG p.R156Q NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, 156 Extracellular (Potential).|TNFR-Cys 3. anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TCTACACGTCCGGCACATCTC 0.502 NaN 0 0 0 0.006214 0 7 44 ADAM32 203102 broad.mit.edu 37 8 39111966 39111966 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:39111966C>A uc003xmt.3 + 18 2181 c.1936C>A c.(1936-1938)CCA>ACA p.P646T ADAM32_uc011lch.1_Missense_Mutation_p.P547T|ADAM32_uc003xmu.3_Missense_Mutation_p.P540T|ADAM32_uc003xmv.2_Missense_Mutation_p.P70T NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 646 EGF-like.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CCATTGTTCGCCAGGCTATAA 0.363 NaN 1 0 0.00621372 0.006214 0.00637652 6 3 PLAT 5327 broad.mit.edu 37 8 42050684 42050684 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:42050684C>G uc003xos.2 - 2 229 c.20G>C c.(19-21)GGG>GCG p.G7A PLAT_uc010lxf.1_Missense_Mutation_p.G7A|PLAT_uc010lxg.1_Missense_Mutation_p.G7A|PLAT_uc003xot.2_Missense_Mutation_p.G7A|PLAT_uc011lcm.1_Missense_Mutation_p.G7A|PLAT_uc011lcn.1_Missense_Mutation_p.G7A NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 7 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACAGCAGAGCCCTCTCTTCAT 0.547 NaN 0 0 0 0.003163 0 12 28 ZFHX4 79776 broad.mit.edu 37 8 77764038 77764038 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:77764038G>T uc003yav.2 + 10 5133 c.4746G>T c.(4744-4746)GAG>GAT p.E1582D ZFHX4_uc003yau.1_Missense_Mutation_p.E1627D|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1582D NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1582 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAAGCTGGAGCCCAGTGGTC 0.517 NaN HNSCC(33;0.089) 1 0 1.67942e-08 0.006122 1.87935e-08 15 20 FAM83H 286077 broad.mit.edu 37 8 144810312 144810312 + Missense_Mutation SNP T T G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:144810312T>G uc003yzk.2 - 5 1388 c.1319A>C c.(1318-1320)GAC>GCC p.D440A FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 440 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAAGCGGAAGTCGTCGCCGTG 0.697 NaN 0 0 0 0.000602 0 5 15 CNTLN 54875 broad.mit.edu 37 9 17466040 17466040 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:17466040G>T uc003zmz.2 + 22 3616 c.3590G>T c.(3589-3591)AGA>ATA p.R1197I CNTLN_uc003zmy.2_Missense_Mutation_p.R1198I|CNTLN_uc010mio.2_Missense_Mutation_p.R877I NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1198 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) CTAAAGCAAAGACTTAACGTT 0.303 NaN 1 0 4.74835e-14 0.010818 5.63567e-14 27 27 AUH 549 broad.mit.edu 37 9 94118381 94118381 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:94118381G>C uc004arf.3 - 2 354 c.319C>G c.(319-321)CTT>GTT p.L107V AUH_uc004arg.3_Missense_Mutation_p.L107V|AUH_uc011ltu.1_Missense_Mutation_p.L107V NM_001698 NP_001689 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-Coenzyme A 107 RNA-binding. branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding 0 ATTTTTATAAGATTTTTACTG 0.289 NaN 0 0 0 0.009096 0 4 17 C9orf5 23731 broad.mit.edu 37 9 111849557 111849557 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:111849557C>T uc004bdt.3 - 6 1248 c.1216G>A c.(1216-1218)GTG>ATG p.V406M C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V406M NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 406 integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) CCCCACCACACATGGTAGCGT 0.413 NaN 0 0 0 0.004656 0 21 30 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:137328351C>T uc004cfb.2 + 10 1442 c.1280C>T c.(1279-1281)TCC>TTC p.S427F RXRA_uc004cfc.1_Missense_Mutation_p.S330F NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 0 0 0 0.006122 0 17 55 SHROOM2 357 broad.mit.edu 37 X 9900619 9900619 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:9900619C>T uc004csu.1 + 6 3386 c.3296C>T c.(3295-3297)CCT>CTT p.P1099L SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1099 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) ACGCCATCCCCTGCGTCCCTG 0.692 NaN 0 0 0 0.001984 0 6 52 DMD 1756 broad.mit.edu 37 X 32383166 32383166 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:32383166G>T uc004dda.1 - 35 5240 c.4996C>A c.(4996-4998)CGA>AGA p.R1666R DMD_uc004dcw.2_Silent_p.R322R|DMD_uc004dcx.2_Silent_p.R325R|DMD_uc004dcz.2_Silent_p.R1543R|DMD_uc004dcy.1_Silent_p.R1662R|DMD_uc004ddb.1_Silent_p.R1658R|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1666 Spectrin 11.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTCTGCTCGGGAGGTGACA 0.428 NaN 1 0 3.30226e-22 0.01441 4.24061e-22 49 44 CXorf22 170063 broad.mit.edu 37 X 35993361 35993361 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:35993361G>A uc004ddj.2 + 14 2411 c.2352G>A c.(2350-2352)CAG>CAA p.Q784Q CXorf22_uc010ngv.2_Splice_Site NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 784 large_intestine(1)|lung(1)|ovary(1) 3 TTTTGCTCCAGTTAGATACTG 0.358 NaN 0 0 0 0.01441 0 90 83 HDAC6 10013 broad.mit.edu 37 X 48682372 48682372 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:48682372A>G uc011mmi.1 + 27 3439 c.3344A>G c.(3343-3345)CAT>CGT p.H1115R HDAC6_uc004dks.1_Missense_Mutation_p.H1115R|HDAC6_uc010nig.1_Missense_Mutation_p.H963R|HDAC6_uc004dkt.1_Missense_Mutation_p.H1115R|HDAC6_uc011mmk.1_Missense_Mutation_p.H1096R|HDAC6_uc004dkv.1_Missense_Mutation_p.H763R|HDAC6_uc004dkw.1_Missense_Mutation_p.H763R|HDAC6_uc004dkx.1_Missense_Mutation_p.H478R NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 1115 Zinc 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) TGGTGTCCCCATTTGGTGGCA 0.517 NaN 0 0 0 0.007835 0 34 86 PJA1 64219 broad.mit.edu 37 X 68382762 68382762 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:68382762G>A uc004dxh.2 - 2 606 c.320C>T c.(319-321)TCG>TTG p.S107L PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.S52L NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 107 zinc ion binding 0 TCTGCTACCCGAAGCTCTGTA 0.522 NaN 0 0 0 0.014323 0 20 99 OGT 8473 broad.mit.edu 37 X 70775117 70775117 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:70775117A>G uc004eaa.1 + 7 1023 c.806A>G c.(805-807)TAC>TGC p.Y269C BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.Y259C|OGT_uc004eac.2_Missense_Mutation_p.Y130C|OGT_uc004ead.2_Intron NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 269 TPR 7. cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) GCTTGTGTATACTATGAGCAA 0.453 NaN 0 0 0 0.01441 0 64 72 PSMD10 5716 broad.mit.edu 37 X 107331994 107331994 + Silent SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:107331994A>G uc004enp.1 - 2 299 c.201T>C c.(199-201)AAT>AAC p.N67N ATG4A_uc004enr.2_5'Flank|ATG4A_uc004ent.2_5'Flank|ATG4A_uc004ens.2_5'Flank|ATG4A_uc011msl.1_5'Flank|ATG4A_uc010npi.2_5'Flank|PSMD10_uc004enq.1_Silent_p.N67N|PSMD10_uc010nph.1_Silent_p.N67N NM_002814 NP_002805 O75832 PSD10_HUMAN proteasome 26S non-ATPase subunit 10 isoform 1 67 Interaction with RELA.|ANK 2.|Interaction with RB1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding ovary(1) 1 CGTCTTTATCATTCACTGGCA 0.413 NaN 0 0 0 0.01441 0 212 193 COL4A5 1287 broad.mit.edu 37 X 107938638 107938638 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:107938638C>A uc004enz.1 + 51 5165 c.4963C>A c.(4963-4965)CTG>ATG p.L1655M COL4A5_uc011mso.1_Missense_Mutation_p.L1652M|COL4A5_uc011msp.1_Missense_Mutation_p.L331M NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1649 Collagen IV NC1. L -> R (in APSX; adult type).|Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CAGCTTTTGGCTGGCAACTGT 0.463 NaN Alport_syndrome_with_Diffuse_Leiomyomatosis 1 0 4.02486e-48 0.01441 5.40481e-48 54 68 KLHL13 90293 broad.mit.edu 37 X 117054334 117054334 + Splice_Site SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:117054334C>A uc004eql.2 - 3 303 c.241_splice c.e3-1 p.G81_splice KLHL13_uc004eqk.2_Splice_Site_p.G30_splice|KLHL13_uc011mtn.1_Splice_Site|KLHL13_uc011mto.1_Splice_Site_p.G75_splice|KLHL13_uc011mtp.1_Splice_Site_p.G83_splice|KLHL13_uc004eqm.2_Splice_Site_p.G30_splice|KLHL13_uc011mtq.1_Splice_Site_p.G65_splice NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 GGTCAAAGCCCTACAACAAGA 0.408 NaN 1 0 3.94638e-17 0.01441 4.7804e-17 46 49 THOC2 57187 broad.mit.edu 37 X 122754808 122754808 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:122754808G>A uc004etu.2 - 32 4257 c.4225C>T c.(4225-4227)CGC>TGC p.R1409C THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R230C NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1409 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ATTTTGCGGCGTTTTTGTTCT 0.398 NaN 0 0 0 0.01441 0 147 118 FRMD7 90167 broad.mit.edu 37 X 131233527 131233527 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:131233527C>T uc004ewn.2 - 3 352 c.174G>A c.(172-174)GAG>GAA p.E58E FRMD7_uc011muy.1_Silent_p.E58E NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 58 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) GCTTCAAAAGCTCCAGCCAAA 0.343 NaN 0 0 0 0.01441 0 50 117 PLXNB3 5365 broad.mit.edu 37 X 153038980 153038980 + Nonsense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:153038980C>T uc004fii.2 + 19 3265 c.3091C>T c.(3091-3093)CGA>TGA p.R1031* PLXNB3_uc010nuk.2_Nonsense_Mutation_p.R1054*|PLXNB3_uc011mzd.1_Nonsense_Mutation_p.R670*|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1031 IPT/TIG 3.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGGGTGGGCGACTGATCCG 0.687 NaN 0 0 0 0.009718 0 36 28 FAM43B 163933 broad.mit.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:20880268_20880270delGAG uc001bdj.2 + 1 1337_1339 c.802_804delGAG c.(802-804)GAGdel p.E272del NM_207334 NP_997217 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 272 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) ggaggaggacgaggaggaggagg 0.567 NaN NaN NaN NaN NaN NaN 7 11 --- --- GRHL3 57822 broad.mit.edu 37 1 24663111 24663112 + Frame_Shift_Ins INS - - A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:24663111_24663112insA uc001biy.2 + 4 467_468 c.421_422insA c.(421-423)GAGfs p.E141fs GRHL3_uc001bix.2_Frame_Shift_Ins_p.E136fs|GRHL3_uc001biz.2_Frame_Shift_Ins_p.E43fs NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 136 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GATGAGCTTGGAGGGGGCCTTG 0.579 NaN NaN NaN NaN NaN NaN 27 85 --- --- PVRL1 5818 broad.mit.edu 37 11 119549465 119549466 + Frame_Shift_Ins INS - - GA TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:119549465_119549466insGA uc001pwv.2 - 2 261_262 c.89_90insTC c.(88-90)TCCfs p.S30fs PVRL1_uc001pwu.1_Frame_Shift_Ins_p.S30fs|PVRL1_uc001pww.2_Frame_Shift_Ins_p.S30fs NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 30 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GGACCACCTGGGAGTGGACGCC 0.594 NaN NaN NaN NaN NaN NaN 6 12 --- --- DIS3 22894 broad.mit.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:73337684delT uc001vix.3 - 16 2406 c.2032delA c.(2032-2034)ATTfs p.I678fs DIS3_uc001viy.3_Frame_Shift_Del_p.I648fs|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 678 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTCATGAATTTTTTTTGCA 0.358 NaN Multiple Myeloma(4;0.011) NaN NaN NaN NaN NaN 7 76 --- --- CX3CL1 6376 broad.mit.edu 37 16 57416702 57416708 + Frame_Shift_Del DEL ACCATGG ACCATGG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:57416702_57416708delACCATGG uc002eli.2 + 3 1019_1025 c.952_958delACCATGG c.(952-960)ACCATGGACfs p.T318fs NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 318_320 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 CATCCATGCCACCATGGACCCCCAGAG 0.662 NaN NaN NaN NaN NaN NaN 17 72 --- --- NKG7 4818 broad.mit.edu 37 19 51875242 51875244 + In_Frame_Del DEL AGG AGG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:51875242_51875244delAGG uc002pwj.2 - 3 560_562 c.389_391delCCT c.(388-393)TCCTGG>TGG p.S130del CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_In_Frame_Del_p.S95del NM_005601 NP_005592 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 130 integral to plasma membrane central_nervous_system(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TAGAAGGACCAGGAGAAGAAGGT 0.611 NaN NaN NaN NaN NaN NaN 26 74 --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:85611708_85611709delCA uc003hpd.2 - 61 9721_9722 c.9313_9314delTG c.(9313-9315)TGGfs p.W3105fs NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3105 WD 1. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.51 NaN NaN NaN NaN NaN NaN 7 114 --- --- KDM3B 51780 broad.mit.edu 37 5 137722024 137722028 + Frame_Shift_Del DEL GGACT GGACT - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:137722024_137722028delGGACT uc003lcy.1 + 7 1294_1298 c.1094_1098delGGACT c.(1093-1098)AGGACTfs p.R365fs KDM3B_uc010jew.1_Frame_Shift_Del_p.R21fs|KDM3B_uc011cys.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 365_366 chromatin modification|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 ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 GAAAACGGCAGGACTCTGGTGGTGC 0.551 NaN NaN NaN NaN NaN NaN 64 150 --- --- RUFY1 80230 broad.mit.edu 37 5 178977642 178977642 + Frame_Shift_Del DEL G G - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:178977642delG uc003mka.1 + 1 72 c.72delG c.(70-72)CCGfs p.P24fs NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 24 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) agccggggccggggcCCGGGT 0.512 NaN HNSCC(44;0.11) NaN NaN NaN NaN NaN 2 4 --- --- GDF6 392255 broad.mit.edu 37 8 97157110 97157111 + Frame_Shift_Ins INS - - A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:97157110_97157111insA uc003yhp.2 - 2 1148_1149 c.1048_1049insT c.(1048-1050)TCCfs p.S350fs NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 350 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GCGTAGCCTGGACTTCTTGCCG 0.515 NaN NaN NaN NaN NaN NaN 8 13 --- --- NTRK2 4915 broad.mit.edu 37 9 87356831 87356837 + Frame_Shift_Del DEL TAATTTA TAATTTA - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:87356831_87356837delTAATTTA uc004aoa.1 + 12 2122_2128 c.1184_1190delTAATTTA c.(1183-1191)GTAATTTATfs p.V395fs NTRK2_uc004anv.1_Frame_Shift_Del_p.V382fs|NTRK2_uc004any.1_Frame_Shift_Del_p.V395fs|NTRK2_uc004anz.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011lsz.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011lta.1_Frame_Shift_Del_p.V395fs|NTRK2_uc004aob.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011ltb.1_Frame_Shift_Del_p.V239fs NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 395_397 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TATCCTGATGTAATTTATGAAGGTAGC 0.309 NaN TSP Lung(25;0.17) NaN NaN NaN NaN NaN 7 19 --- --- DDX26B 203522 broad.mit.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:134680317delT uc004eyw.3 + 4 715 c.352delT c.(352-354)TTTfs p.F118fs NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 118 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAATCCATTTTTTTTAGA 0.269 NaN NaN NaN NaN NaN NaN 34 41 --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:149984524_149984526delGTG uc004fel.2 - 3 274_276 c.156_158delCAC c.(154-159)ACCACA>ACA p.52_53TT>T CD99L2_uc004fek.2_5'Flank|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_In_Frame_Del_p.52_53TT>T NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 52_53 Extracellular (Potential).|Poly-Thr. cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 NaN NaN NaN NaN NaN NaN 7 457 --- ---