Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut HCRTR1 3061 broad.mit.edu 37 1 32089283 32089283 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:32089283C>T uc009vtx.2 + 7 1283 c.898C>T c.(898-900)CTG>TTG p.L300L HCRTR1_uc001btb.2_Silent_p.L125L|HCRTR1_uc001btc.3_Silent_p.L214L|HCRTR1_uc001btd.2_Silent_p.L300L|HCRTR1_uc010ogl.1_Silent_p.L300L NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 300 Helical; Name=6; (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) AGCCAAGATGCTGATGGTGGT 0.632 NA 8 46 0 0 0 0 DLGAP3 58512 broad.mit.edu 37 1 35365842 35365842 + Silent SNP G G A rs149715442 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:35365842G>A uc001byc.2 - 2 1140 c.1140C>T c.(1138-1140)ACC>ACT p.T380T NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 380 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCTTGCCACCGGTGGGGTAAC 0.612 NA 34 122 0 0 0 0 LRIG2 9860 broad.mit.edu 37 1 113661886 113661886 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:113661886T>G uc001edf.1 + 17 2910 c.2712T>G c.(2710-2712)GAT>GAG p.D904E LRIG2_uc009wgn.1_Missense_Mutation_p.D801E NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 904 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TTTGCTCAGATTGTTATGACA 0.413 NA 23 80 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158596754 158596754 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:158596754A>G uc001fst.1 - 41 5907 c.5708T>C c.(5707-5709)ATA>ACA p.I1903T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1903 Spectrin 18. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGAGCCTCTATCTTGGAAGA 0.428 NA 29 97 0 0 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155865 173155865 + Silent SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:173155865G>A uc001giw.2 - 3 498 c.342C>T c.(340-342)AAC>AAT p.N114N TNFSF4_uc001giv.2_Silent_p.N64N NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 114 Extracellular (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 GAAGGCTAATGTTGACTTCCT 0.468 NA 13 48 0 0 0 0 ASTN1 460 broad.mit.edu 37 1 176998825 176998825 + Silent SNP G G A rs61758728 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:176998825G>A uc001glc.2 - 5 1277 c.1065C>T c.(1063-1065)AAC>AAT p.N355N ASTN1_uc001glb.1_Silent_p.N355N|ASTN1_uc001gld.1_Silent_p.N355N|ASTN1_uc009wwx.1_Silent_p.N355N|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 355 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCTGGGGGTCGTTTTCTGCCT 0.507 NA 17 13 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190129849 190129849 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:190129849C>A uc001gse.1 - 7 1365 c.1133G>T c.(1132-1134)AGC>ATC p.S378I FAM5C_uc010pot.1_Missense_Mutation_p.S276I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 378 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CTTGCTAAGGCTAAAAAGCTT 0.393 NA 39 44 9.85e-19 1.2e-18 1 0 EPHX1 2052 broad.mit.edu 37 1 226027611 226027611 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:226027611C>T uc001hpk.2 + 6 884 c.804C>T c.(802-804)TTC>TTT p.F268F EPHX1_uc001hpl.2_Silent_p.F268F NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 268 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) GACAGCGTTTCGGGAGGTTTC 0.552 NA 41 147 0 0 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435651 5435651 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:5435651C>T uc001ihy.2 - 4 1210 c.1170G>A c.(1168-1170)GCG>GCA p.A390A TUBAL3_uc001ihz.2_Silent_p.A350A NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 390 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 CCTCCACAATCGCCGTGGTGT 0.592 NA 31 46 0 0 0 0 BICC1 80114 broad.mit.edu 37 10 60549208 60549208 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:60549208G>A uc001jki.1 + 7 787 c.787G>A c.(787-789)GCT>ACT p.A263T NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 263 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 TAACACTAGTGCTGTGAAGGT 0.328 NA 31 36 0 0 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686715 68686715 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:68686715T>C uc001jmz.1 + 2 591 c.41T>C c.(40-42)GTA>GCA p.V14A CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.V14A NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 14 integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GGATCAGCTGTAGCACTGGTT 0.413 NA 22 28 0 0 0 0 OR4C16 219428 broad.mit.edu 37 11 55339991 55339991 + Missense_Mutation SNP T T A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:55339991T>A uc010rih.1 + 1 388 c.388T>A c.(388-390)TAC>AAC p.Y130N NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GCCCCTGCACTACATGACCAT 0.502 NA 61 95 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55594850 55594850 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:55594850C>A uc001nhy.1 + 1 156 c.156C>A c.(154-156)AGC>AGA p.S52R NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TTCAGGTCAGCTCTCGGCTCC 0.478 NA HNSCC(27;0.073) 101 220 4.49e-49 5.53e-49 1 0 MTA2 9219 broad.mit.edu 37 11 62362870 62362870 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:62362870T>C uc001ntq.1 - 14 1730 c.1349A>G c.(1348-1350)AAC>AGC p.N450S MTA2_uc010rlx.1_Missense_Mutation_p.N277S NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 450 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AGTTTGTCTGTTCTTAGCCAG 0.537 NA 69 71 0 0 0 0 PRKRIR 5612 broad.mit.edu 37 11 76061960 76061960 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:76061960G>C uc001oxh.1 - 5 2234 c.2234C>G c.(2233-2235)ACA>AGA p.T745R PRKRIR_uc010rrz.1_Missense_Mutation_p.T570R NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 745 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity p.T745R(1) ovary(2)|pancreas(1) 3 TGACTTACTTGTATAGAGTTT 0.313 NA 6 23 0 0 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102988373 102988373 + Silent SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:102988373A>T uc001pho.2 + 6 924 c.780A>T c.(778-780)GGA>GGT p.G260G DYNC2H1_uc001phn.1_Silent_p.G260G|DYNC2H1_uc009yxe.1_Silent_p.G260G NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 260 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTTCATTTGGAAGGTTTGTTC 0.279 NA 11 356 0 0 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927722 14927722 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:14927722C>T uc009zia.2 + 1 453 c.318C>T c.(316-318)GGC>GGT p.G106G H2AFJ_uc001rch.3_RNA NM_177925 NP_808760 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 106 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 TCGCTCAGGGCGGCGTCCTGC 0.597 NA 4 108 0 0 0 0 HELB 92797 broad.mit.edu 37 12 66717930 66717930 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:66717930A>G uc001sti.2 + 10 2493 c.2465A>G c.(2464-2466)AAT>AGT p.N822S HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 822 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TTTGCTAAAAATAAGCGTGAC 0.333 NA 11 42 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185156 130185156 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:130185156G>A uc009zyl.1 - 2 495 c.167C>T c.(166-168)GCG>GTG p.A56V NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 56 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGAGACGTCCGCGTTGTTGAT 0.557 NA 27 36 0 0 0 0 PCK2 5106 broad.mit.edu 37 14 24572431 24572431 + Missense_Mutation SNP C C T rs145351624 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:24572431C>T uc001wlt.2 + 9 1567 c.1435C>T c.(1435-1437)CGC>TGC p.R479C NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R491C|PCK2_uc010tnw.1_Missense_Mutation_p.R345C|PCK2_uc010tnx.1_Missense_Mutation_p.R345C|PCK2_uc001wlu.3_Intron NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 479 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) CAGCGCCATGCGCTCTGAGTC 0.572 NA 3 26 0 0 0 0 NFATC4 4776 broad.mit.edu 37 14 24842446 24842446 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:24842446C>T uc001wpc.2 + 4 1750 c.1429C>T c.(1429-1431)CGG>TGG p.R477W NFATC4_uc010tok.1_Missense_Mutation_p.R540W|NFATC4_uc010tol.1_Missense_Mutation_p.R540W|NFATC4_uc010alr.2_Missense_Mutation_p.R540W|NFATC4_uc010als.2_Missense_Mutation_p.R490W|NFATC4_uc010tom.1_Missense_Mutation_p.R490W|NFATC4_uc010ton.1_Missense_Mutation_p.R490W|NFATC4_uc010too.1_Missense_Mutation_p.R490W|NFATC4_uc010alt.2_Missense_Mutation_p.R509W|NFATC4_uc010top.1_Missense_Mutation_p.R509W|NFATC4_uc010toq.1_Missense_Mutation_p.R509W|NFATC4_uc010alu.2_Missense_Mutation_p.R169W|NFATC4_uc010tor.1_Missense_Mutation_p.R477W|NFATC4_uc010tos.1_Missense_Mutation_p.R407W|NFATC4_uc010tot.1_Missense_Mutation_p.R465W|NFATC4_uc010tou.1_Missense_Mutation_p.R407W|NFATC4_uc010tov.1_Missense_Mutation_p.R465W|NFATC4_uc010tow.1_Missense_Mutation_p.R407W|NFATC4_uc010alv.2_Missense_Mutation_p.R465W|NFATC4_uc010tox.1_Missense_Mutation_p.R407W|NFATC4_uc001wpd.2_Missense_Mutation_p.R12W|NFATC4_uc010toy.1_Missense_Mutation_p.R12W|NFATC4_uc010toz.1_Missense_Mutation_p.R12W|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 477 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) AAGGAACCTGCGGCCTCATGC 0.567 NA 12 42 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95921839 95921839 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:95921839T>G uc001yei.3 - 5 1027 c.1012A>C c.(1012-1014)AAG>CAG p.K338Q C14orf49_uc010avi.2_Missense_Mutation_p.K338Q|C14orf49_uc001yej.1_Missense_Mutation_p.K338Q NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 338 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TCCAGCTGCTTAATCTGCTGC 0.667 NA 3 114 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28389924 28389924 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr15:28389924C>T uc001zbj.2 - 72 11141 c.11035G>A c.(11035-11037)GAG>AAG p.E3679K NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3679 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATGCGCAGCTCGCTGGACCAG 0.572 NA 15 34 0 0 0 0 DHX33 56919 broad.mit.edu 37 17 5357145 5357145 + Nonsense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:5357145G>A uc002gca.2 - 7 1305 c.1303C>T c.(1303-1305)CAG>TAG p.Q435* DHX33_uc002gbz.2_Nonsense_Mutation_p.Q206*|DHX33_uc002gcb.2_Nonsense_Mutation_p.Q262*|DHX33_uc010clf.2_Nonsense_Mutation_p.Q211* NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 435 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GCCTACCTCTGGATCTCTGGC 0.562 NA 5 41 0 0 0 0 EPN2 22905 broad.mit.edu 37 17 19188962 19188962 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:19188962C>T uc002gvd.3 + 4 1073 c.625C>T c.(625-627)CGC>TGC p.R209C EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Intron|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Intron|EPN2_uc010vyp.1_Intron|EPN2_uc010vyq.1_Intron|EPN2_uc002gvh.1_Missense_Mutation_p.R209C NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 209 endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) cccccagcaccgcacaggggc 0.284 NA 3 10 0 0 0 0 TLCD1 116238 broad.mit.edu 37 17 27051713 27051713 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:27051713G>C uc002hco.2 - 4 674 c.559C>G c.(559-561)CAG>GAG p.Q187E TLCD1_uc010waw.1_Missense_Mutation_p.Q140E NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN TLC domain containing 1 isoform 1 187 TLC.|Helical; (Potential). integral to membrane 0 Lung NSC(42;0.00431) AGGTAGGCCTGAGGGGCCAGG 0.502 NA 7 108 0 0 0 0 AATK 9625 broad.mit.edu 37 17 79108261 79108261 + Silent SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:79108261G>A uc010dia.2 - 2 176 c.96C>T c.(94-96)CTC>CTT p.L32L MIR1250_hsa-mir-1250|MI0006385_5'Flank NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 32 Helical; (Potential). integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCACCACGGCGAGGGAGGATG 0.677 NA 16 25 0 0 0 0 ZNF24 7572 broad.mit.edu 37 18 32917689 32917689 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr18:32917689T>C uc002kyt.2 - 4 771 c.614A>G c.(613-615)GAG>GGG p.E205G ZNF24_uc002kys.2_Missense_Mutation_p.E205G NM_006965 NP_008896 P17028 ZNF24_HUMAN zinc finger protein 24 205 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGAAGGAAGCTCCTGCTTTGG 0.388 NA 56 42 0 0 0 0 NEDD4L 23327 broad.mit.edu 37 18 55996286 55996286 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr18:55996286G>A uc002lgy.2 + 10 1014 c.740G>A c.(739-741)CGG>CAG p.R247Q NEDD4L_uc002lgz.2_Missense_Mutation_p.R247Q|NEDD4L_uc002lgx.2_Missense_Mutation_p.R247Q|NEDD4L_uc010xee.1_Missense_Mutation_p.R126Q|NEDD4L_uc002lhc.2_Missense_Mutation_p.R239Q|NEDD4L_uc002lhd.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhb.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhe.2_Missense_Mutation_p.R239Q|NEDD4L_uc002lhf.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhg.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhh.2_Missense_Mutation_p.R126Q|NEDD4L_uc010dpm.1_Missense_Mutation_p.R98Q NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 247 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 GCAGCACACCGGCGCTTCCGC 0.602 NA 22 14 0 0 0 0 TLE6 79816 broad.mit.edu 37 19 2987144 2987144 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:2987144A>G uc002lwu.2 + 6 480 c.80A>G c.(79-81)AAG>AGG p.K27R TLE6_uc002lwt.2_Missense_Mutation_p.K150R|TLE6_uc010dtg.2_Missense_Mutation_p.K150R|TLE6_uc002lwv.2_5'Flank NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 27 regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTGGGACAAGGAGCCTTGG 0.597 NA 19 89 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22156143 22156143 + Missense_Mutation SNP A A G rs112237751 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:22156143A>G uc002nqp.2 - 5 1542 c.1393T>C c.(1393-1395)TCC>CCC p.S465P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGGGTTGAGGACCACTTATAG 0.348 NA 3 56 0 0 0 0 WDR62 284403 broad.mit.edu 37 19 36550887 36550887 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:36550887T>G uc002odc.2 + 3 378 c.287T>G c.(286-288)TTG>TGG p.L96W WDR62_uc002odd.2_Missense_Mutation_p.L96W|WDR62_uc010eer.2_Missense_Mutation_p.L96W|WDR62_uc002odb.2_Missense_Mutation_p.L96W NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 96 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTGGTGATTTTGGACCCCAAG 0.582 NA 3 156 0 0 0 0 EID2 163126 broad.mit.edu 37 19 40030302 40030302 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:40030302G>A uc002oma.2 - 1 537 c.418C>T c.(418-420)CTC>TTC p.L140F NM_153232 NP_694964 Q8N6I1 EID2_HUMAN CREBBP/EP300 inhibitor 2 140 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CGGAGACGGAGATAGGGCAAC 0.602 NA 24 102 0 0 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581529 40581529 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:40581529C>T uc002omy.2 - 6 1045 c.820G>A c.(820-822)GTA>ATA p.V274I ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.V274I|ZNF780A_uc010xvh.1_Missense_Mutation_p.V275I NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 274 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) TATGGTTTTACACCAGAATGA 0.388 NA 5 219 0 0 0 0 POLD1 5424 broad.mit.edu 37 19 50906777 50906777 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:50906777G>C uc002psb.3 + 10 1221 c.1165G>C c.(1165-1167)GAC>CAC p.D389H POLD1_uc002psc.3_Missense_Mutation_p.D389H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.D389H NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 389 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CCGTATCATGGACCCCGACGT 0.597 NA DNA_polymerases_(catalytic_subunits) 19 138 0 0 0 0 LILRB4 11006 broad.mit.edu 37 19 55175317 55175317 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:55175317G>C uc002qgp.2 + 3 538 c.176G>C c.(175-177)CGT>CCT p.R59P LILRB4_uc002qgo.1_Missense_Mutation_p.R100P|LILRB4_uc002qgq.2_Missense_Mutation_p.R59P|LILRB4_uc010ers.1_5'UTR|LILRB4_uc002qgr.2_Missense_Mutation_p.R100P|LILRB4_uc010ert.2_Missense_Mutation_p.R100P|LILRB4_uc010eru.2_Missense_Mutation_p.R88P NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 59 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) CGGGAGTACCGTCTGGATAAA 0.587 NA 37 118 0 0 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121496 27121496 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:27121496G>C uc002rhu.3 + 2 287 c.129G>C c.(127-129)ATG>ATC p.M43I DPYSL5_uc002rhv.3_Missense_Mutation_p.M43I NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 43 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGAGCTCATGATCCCTGGCG 0.577 NA 11 90 0 0 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483229 54483229 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:54483229C>T uc002rxr.2 - 1 181 c.60G>A c.(58-60)CCG>CCA p.P20P ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 20 nucleosome assembly nucleus 0 GGCCCTGGTGCGGGTCTTCCA 0.622 NA 28 124 0 0 0 0 REG3G 130120 broad.mit.edu 37 2 79254230 79254230 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:79254230C>T uc002snw.2 + 4 351 c.266C>T c.(265-267)TCC>TTC p.S89F REG3G_uc002snx.2_Missense_Mutation_p.S89F|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 89 C-type lectin. acute-phase response extracellular region sugar binding 0 TCCTTCGTGTCCTCCCTGGTG 0.537 NA 21 106 0 0 0 0 REV1 51455 broad.mit.edu 37 2 100055565 100055565 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:100055565C>T uc002tad.2 - 6 923 c.711G>A c.(709-711)AAG>AAA p.K237K REV1_uc002tac.2_Silent_p.K237K|REV1_uc002tae.1_Silent_p.K216K NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 237 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 AATCCTGTGTCTTTAAGGCAC 0.512 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 34 0 0 0 0 IL1R2 7850 broad.mit.edu 37 2 102636165 102636165 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:102636165C>T uc002tbm.2 + 5 808 c.579C>T c.(577-579)CTC>CTT p.L193L IL1R2_uc002tbn.2_Silent_p.L193L|IL1R2_uc002tbo.1_Silent_p.L193L NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 193 Extracellular (Potential).|Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) CTCACTTACTCGTACACGATG 0.418 NA 9 21 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136566782 136566782 + Silent SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:136566782G>A uc002tuu.1 - 8 3146 c.3135C>T c.(3133-3135)TAC>TAT p.Y1045Y NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1045 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) AAAAGTCTGCGTAGCTGTCAA 0.493 NA 28 55 0 0 0 0 MCM6 4175 broad.mit.edu 37 2 136610440 136610440 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:136610440T>C uc002tuw.2 - 12 1748 c.1672A>G c.(1672-1674)AGA>GGA p.R558G NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 558 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCCTCAATTCTTGAATGCAAA 0.368 NA 22 38 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227966581 227966581 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:227966581C>A uc010zlt.1 - 16 1629 c.975G>T c.(973-975)AAG>AAT p.K325N NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 325 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTACATTTACCTTTAATCCTG 0.318 NA 5 7 0.00116845 0.00131082 1 0 TBC1D20 128637 broad.mit.edu 37 20 420957 420957 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:420957C>T uc002wds.2 - 6 841 c.703G>A c.(703-705)GTC>ATC p.V235I TBC1D20_uc002wdv.2_Missense_Mutation_p.V58I|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 235 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) AACCGCACGACGTGCCTGAAG 0.557 NA 8 48 0 0 0 0 SIRPG 55423 broad.mit.edu 37 20 1629753 1629753 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:1629753C>T uc002wfm.1 - 2 440 c.375G>A c.(373-375)GGG>GGA p.G125G SIRPG_uc002wfn.1_Silent_p.G125G|SIRPG_uc002wfo.1_Silent_p.G125G NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 125 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 TCTCAGGGCTCCCTTTTCGAA 0.498 NA 55 83 0 0 0 0 ZBP1 81030 broad.mit.edu 37 20 56191333 56191333 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:56191333C>T uc002xyo.2 - 2 507 c.226G>A c.(226-228)GAG>AAG p.E76K ZBP1_uc010gjm.2_Missense_Mutation_p.E76K|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Missense_Mutation_p.E76K NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 76 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GCAGGACCCTCGCCTTCAGGA 0.527 NA 15 43 0 0 0 0 MOV10L1 54456 broad.mit.edu 37 22 50546633 50546633 + Missense_Mutation SNP G G A rs147590689 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr22:50546633G>A uc003bjj.2 + 4 594 c.511G>A c.(511-513)GAA>AAA p.E171K MOV10L1_uc003bjk.3_Missense_Mutation_p.E171K|MOV10L1_uc011arp.1_Missense_Mutation_p.E151K|MOV10L1_uc010han.2_Missense_Mutation_p.E151K NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 171 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTGGAGCAGCGAAGCCACCTC 0.602 NA 7 19 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49700618 49700618 + Missense_Mutation SNP G G T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr3:49700618G>T uc003cxe.3 + 7 11141 c.11027G>T c.(11026-11028)CGC>CTC p.R3676L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3676 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GACCTGGGTCGCCATGAGGCC 0.667 NA 8 26 0.00307968 0.00339783 1 0 KLHL24 54800 broad.mit.edu 37 3 183368865 183368865 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr3:183368865G>A uc003flv.2 + 3 1016 c.721G>A c.(721-723)GTT>ATT p.V241I KLHL24_uc003flw.2_Missense_Mutation_p.V241I|KLHL24_uc003flx.2_Missense_Mutation_p.V241I NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 241 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CTATCGTGCCGTTGATCTGAG 0.418 NA 13 53 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46334667 46334667 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:46334667C>T uc003gxc.3 - 3 893 c.220G>A c.(220-222)GTG>ATG p.V74M GABRA2_uc010igc.2_Missense_Mutation_p.V74M|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Missense_Mutation_p.V74M NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 74 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACTGGTCACGTAGATGTTA 0.343 NA 14 34 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52862054 52862054 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:52862054C>T uc003gzi.2 - 4 1147 c.1134G>A c.(1132-1134)GCG>GCA p.A378A NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 378 Helical; (Potential). integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 ACAGGCACACCGCCAGAGCCA 0.562 NA 32 59 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134071659 134071659 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:134071659T>C uc003iha.2 + 1 1190 c.364T>C c.(364-366)TTC>CTC p.F122L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.F122L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 122 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CCCCCCCTCTTTCCCGGAGCC 0.612 NA 16 86 0 0 0 0 NPY5R 4889 broad.mit.edu 37 4 164271702 164271702 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:164271702T>C uc003iqn.2 + 4 459 c.277T>C c.(277-279)TTT>CTT p.F93L NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 93 Helical; Name=2; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GGTTGTGCTGTTTTGCTCACC 0.403 NA 66 148 0 0 0 0 MTRR 4552 broad.mit.edu 37 5 7873624 7873624 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:7873624C>T uc003jed.2 + 3 379 c.349C>T c.(349-351)CGG>TGG p.R117W MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Missense_Mutation_p.R90W|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 117 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TGCTCACCTGCGGTATGGGTT 0.448 NA 17 69 0 0 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370532 38370532 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:38370532G>A uc003jlc.1 + 6 1004 c.680G>A c.(679-681)CGC>CAC p.R227H EGFLAM_uc003jlb.1_Missense_Mutation_p.R227H NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 227 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CCCAGCCCCCGCAGCTGGCCC 0.577 NA 5 21 0 0 0 0 RNF14 9604 broad.mit.edu 37 5 141359811 141359811 + Missense_Mutation SNP C C G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:141359811C>G uc003lly.2 + 5 997 c.958C>G c.(958-960)CAG>GAG p.Q320E RNF14_uc003llz.2_Missense_Mutation_p.Q320E|RNF14_uc003lma.2_Missense_Mutation_p.Q320E|RNF14_uc003lmb.2_Missense_Mutation_p.Q194E|RNF14_uc003lmc.2_Missense_Mutation_p.Q320E|RNF14_uc011dbg.1_Missense_Mutation_p.Q144E|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.Q320E NM_183399 NP_899646 Q9UBS8 RNF14_HUMAN ring finger protein 14 isoform 1 320 IBR-type. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding 0 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GCCTGTGATGCAGGAACCTGG 0.567 NA 59 31 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176709563 176709563 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:176709563A>G uc003mfr.3 + 19 6128 c.5990A>G c.(5989-5991)TAT>TGT p.Y1997C NSD1_uc003mft.3_Missense_Mutation_p.Y1728C|NSD1_uc011dfx.1_Missense_Mutation_p.Y1645C NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1997 S-adenosyl-L-methionine binding.|SET. Y -> C (in WES). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ACTAATTTCTATATGCTCACC 0.373 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 50 21 0 0 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204885 26204885 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:26204885G>A uc003ngy.2 + 1 13 c.13G>A c.(13-15)GGC>AGC p.G5S NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 5 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) GTCTGGTCGCGGCAAAGGCGG 0.517 NA 30 63 0 0 0 0 ABCF1 23 broad.mit.edu 37 6 30546133 30546133 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:30546133C>A uc003nql.2 + 5 447 c.352C>A c.(352-354)CCA>ACA p.P118T ABCF1_uc003nqk.2_Missense_Mutation_p.P119T|ABCF1_uc003nqm.2_Missense_Mutation_p.P118T|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 118 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 AGTACCCGCCCCAAAACCCCG 0.498 NA 4 78 0.00909568 0.00979253 1 0 AKD1 221264 broad.mit.edu 37 6 109962806 109962806 + Missense_Mutation SNP C C T rs148448147 byFrequency TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:109962806C>T uc003ptn.2 - 10 925 c.848G>A c.(847-849)CGA>CAA p.R283Q AKD1_uc003ptr.3_Missense_Mutation_p.R283Q NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 283 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 ATATTTAAGTCGATCCATAAC 0.348 NA 18 30 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155485661 155485661 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:155485661C>A uc003qqb.2 + 10 3414 c.2141C>A c.(2140-2142)GCA>GAA p.A714E TIAM2_uc003qqe.2_Missense_Mutation_p.A714E|TIAM2_uc010kjj.2_Missense_Mutation_p.A247E|TIAM2_uc003qqf.2_Missense_Mutation_p.A66E|TIAM2_uc011efl.1_Missense_Mutation_p.A26E|TIAM2_uc003qqg.2_Missense_Mutation_p.A26E NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 714 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGTCTCCTTGCAGCCGCCAGC 0.552 NA 80 148 5.82e-33 7.13e-33 1 0 INTS1 26173 broad.mit.edu 37 7 1523641 1523641 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:1523641A>G uc003skn.2 - 25 3528 c.3427T>C c.(3427-3429)TGG>CGG p.W1143R INTS1_uc003skp.1_Missense_Mutation_p.W490R NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1143 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCCCTCACCCAGCTGTAGACC 0.687 NA 14 55 0 0 0 0 INTS1 26173 broad.mit.edu 37 7 1523644 1523644 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:1523644T>C uc003skn.2 - 25 3525 c.3424A>G c.(3424-3426)AGC>GGC p.S1142G INTS1_uc003skp.1_Missense_Mutation_p.S489G NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1142 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTCACCCAGCTGTAGACCTCC 0.687 NA 14 55 0 0 0 0 AHR 196 broad.mit.edu 37 7 17382646 17382646 + Missense_Mutation SNP A A T rs146912085 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:17382646A>T uc011jxz.1 + 11 3118 c.2505A>T c.(2503-2505)GAA>GAT p.E835D AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 835 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) ATCCGTCAGAAGCCAGACCTT 0.373 NA 77 87 0 0 0 0 HDAC9 9734 broad.mit.edu 37 7 18975526 18975526 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:18975526T>G uc003suh.2 + 22 2930 c.2889T>G c.(2887-2889)GAT>GAG p.D963E HDAC9_uc003sue.2_Missense_Mutation_p.D963E|HDAC9_uc003sui.2_Missense_Mutation_p.D966E|HDAC9_uc003suj.2_Missense_Mutation_p.D922E|HDAC9_uc003suk.2_Missense_Mutation_p.D211E NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 963 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CCATCTGTGATGCATCAGAAG 0.438 NA 36 96 0 0 0 0 KLHL7 55975 broad.mit.edu 37 7 23213806 23213806 + Silent SNP C C T rs142565112 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:23213806C>T uc003svs.3 + 11 1943 c.1650C>T c.(1648-1650)ACC>ACT p.T550T KLHL7_uc003svr.3_Silent_p.T528T|KLHL7_uc011jys.1_Silent_p.T474T|KLHL7_uc011jyt.1_Silent_p.T325T|KLHL7_uc003svt.2_Silent_p.T502T|KLHL7_uc011jyv.1_Silent_p.T280T NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 550 Kelch 6. Golgi apparatus|nucleolus|plasma membrane 0 AATATAATACCGAAACAGACA 0.423 NA 27 46 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100484575 100484575 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:100484575G>A uc003uwy.2 + 15 2075 c.1807G>A c.(1807-1809)GAG>AAG p.E603K SRRT_uc010lhl.1_Missense_Mutation_p.E602K|SRRT_uc003uxa.2_Missense_Mutation_p.E602K|SRRT_uc003uwz.2_Missense_Mutation_p.E603K NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 603 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GGAGCGGGATGAGAAGTTGAT 0.647 NA 30 196 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101844779 101844779 + Silent SNP C C T rs150235372 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:101844779C>T uc003uyx.3 + 18 2240 c.2202C>T c.(2200-2202)TCC>TCT p.S734S CUX1_uc003uys.3_Silent_p.S745S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 734 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S734S(1) ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CACCACTGTCCCAGAGTGACA 0.632 NA 22 318 0 0 0 0 TRPS1 7227 broad.mit.edu 37 8 116430580 116430580 + Missense_Mutation SNP C C G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr8:116430580C>G uc003ynz.2 - 5 3221 c.2762G>C c.(2761-2763)GGC>GCC p.G921A TRPS1_uc011lhy.1_Missense_Mutation_p.G925A|TRPS1_uc003yny.2_Missense_Mutation_p.G934A|TRPS1_uc010mcy.2_Missense_Mutation_p.G921A NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 921 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTGGTAGAGGCCACACGCGTT 0.483 NA Langer-Giedion_syndrome 137 31 0 0 0 0 FLJ43860 389690 broad.mit.edu 37 8 142445304 142445304 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr8:142445304G>A uc003ywi.2 - 29 3682 c.3601C>T c.(3601-3603)CGG>TGG p.R1201W FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 1201 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGCAGTAGCCGCCAGCGGAGC 0.667 NA 56 18 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777750 18777750 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:18777750C>A uc003zne.3 + 19 3650 c.3523C>A c.(3523-3525)CAG>AAG p.Q1175K NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1175 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) AGCGGCCCAGCAGCTCTCAGC 0.692 NA 13 15 0.00136819 0.00152212 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 6 0 0 0 0 GDA 9615 broad.mit.edu 37 9 74834409 74834409 + Missense_Mutation SNP T T A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:74834409T>A uc004aiq.2 + 6 776 c.593T>A c.(592-594)ATG>AAG p.M198K GDA_uc011lse.1_Missense_Mutation_p.M124K|GDA_uc011lsf.1_Missense_Mutation_p.M124K|GDA_uc004air.2_Missense_Mutation_p.M198K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.M156K|GDA_uc004ait.1_Missense_Mutation_p.M124K NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 198 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GTGTCAGAAATGCTCCAAAAG 0.284 NA 10 15 0 0 0 0 DOLK 22845 broad.mit.edu 37 9 131708963 131708963 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:131708963T>G uc004bwr.2 - 1 1050 c.620A>C c.(619-621)CAG>CCG p.Q207P NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 207 Helical; (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 CTTGATGAGCTGGTTGAGGAC 0.542 NA 40 35 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31838157 31838157 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:31838157C>T uc004dda.1 - 50 7488 c.7244G>A c.(7243-7245)CGT>CAT p.R2415H DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.R1071H|DMD_uc004dcx.2_Missense_Mutation_p.R1074H|DMD_uc004dcz.2_Missense_Mutation_p.R2292H|DMD_uc004dcy.1_Missense_Mutation_p.R2411H|DMD_uc004ddb.1_Missense_Mutation_p.R2407H|DMD_uc004ddd.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2415 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) TTGAAGTAAACGGTTTACCGC 0.428 NA 20 12 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873697 91873697 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:91873697C>A uc004efk.1 + 7 4647 c.3802C>A c.(3802-3804)CAT>AAT p.H1268N PCDH11X_uc004efl.1_Missense_Mutation_p.H1258N|PCDH11X_uc004efo.1_Missense_Mutation_p.H1231N|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1260N|PCDH11X_uc004efn.1_Missense_Mutation_p.H1250N NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1268 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TATTGCCCTCCATCGTAGTCA 0.562 NA 73 83 2.82e-13 3.36e-13 1 0 CHRDL1 91851 broad.mit.edu 37 X 109943927 109943927 + Silent SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:109943927T>C uc004eou.3 - 7 913 c.564A>G c.(562-564)GAA>GAG p.E188E CHRDL1_uc004eov.2_Silent_p.E182E|CHRDL1_uc004eow.2_Silent_p.E187E|CHRDL1_uc010nps.2_Silent_p.E187E|CHRDL1_uc004eot.2_Silent_p.E108E|CHRDL1_uc011mss.1_Silent_p.E102E NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 181 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 CATCAGAATGTTCCCATGACA 0.403 NA 12 28 0 0 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218231 130218231 + Missense_Mutation SNP G G T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:130218231G>T uc004evz.2 + 5 943 c.598G>T c.(598-600)GCC>TCC p.A200S ARHGAP36_uc004ewa.2_Missense_Mutation_p.A188S|ARHGAP36_uc004ewb.2_Missense_Mutation_p.A169S|ARHGAP36_uc004ewc.2_Missense_Mutation_p.A64S NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 200 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 GGAAGACGGAGCCCTGCTGCT 0.463 NA 13 9 1.58e-08 1.86e-08 1 0 IL9R 3581 broad.mit.edu 37 X 155233408 155233408 + Silent SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:155233408A>G uc004fnv.1 + 4 500 c.321A>G c.(319-321)CCA>CCG p.P107P IL9R_uc010nvn.2_Silent_p.P86P|IL9R_uc004fnu.1_Missense_Mutation_p.H152R NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 107 Extracellular (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCGTGCTGCCACCTGAGGCAG 0.607 NA 9 19 0 0 0 0 CHD5 26038 broad.mit.edu 37 1 6202630 6202632 + In_Frame_Del DEL GAT GAT - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:6202630_6202632delGAT uc001amb.1 - 14 2177_2179 c.2077_2079delATC c.(2077-2079)ATCdel p.I693del CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 693 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTGTGGAGTCGATGTACCATGGC 0.616 NA 18 72 --- --- --- --- NA NA NA NA SPOCD1 90853 broad.mit.edu 37 1 32263807 32263824 + Splice_Site DEL CCCTTTTCTCCTCCTGGT CCCTTTTCTCCTCCTGGT - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:32263807_32263824delCCCTTTTCTCCTCCTGGT uc001bts.1 - 9 2203 c.2145_splice c.e9+1 p.R715_splice SPOCD1_uc001btt.2_Splice_Site_p.R21_splice|SPOCD1_uc001btu.2_Splice_Site_p.R715_splice|SPOCD1_uc001btv.2_Splice_Site_p.R208_splice|SPOCD1_uc001btw.1_Splice_Site_p.R59_splice NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCAGCACTCACCCTTTTCTCCTCCTGGTCCCGCCAGCG 0.385 NA 8 64 --- --- --- --- NA NA NA NA MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:129902204_129902205delTG uc001lke.2 - 13 8094_8095 c.7899_7900delCA c.(7897-7902)CACAAAfs p.H2633fs MKI67_uc001lkf.2_Frame_Shift_Del_p.H2273fs|MKI67_uc009yav.1_Frame_Shift_Del_p.H2208fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.H1783fs NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2633_2634 14.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.5 NA 7 110 --- --- --- --- NA NA NA NA FOLR1 2348 broad.mit.edu 37 11 71903251 71903253 + In_Frame_Del DEL CTT CTT - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:71903251_71903253delCTT uc001orz.1 + 3 172_174 c.34_36delCTT c.(34-36)CTTdel p.L13del FOLR1_uc001osa.1_In_Frame_Del_p.L13del|FOLR1_uc001osb.1_In_Frame_Del_p.L13del|FOLR1_uc001osc.1_In_Frame_Del_p.L13del|FOLR1_uc001osd.1_In_Frame_Del_p.L13del NM_016724 NP_057936 P15328 FOLR1_HUMAN folate receptor 1 precursor 13 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity ovary(1) 1 GCTGCTGCTCCTTCTAGTGTGGG 0.547 NA 37 99 --- --- --- --- NA NA NA NA PPL 5493 broad.mit.edu 37 16 4945271 4945272 + Frame_Shift_Ins INS - - T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr16:4945271_4945272insT uc002cyd.1 - 11 1322_1323 c.1232_1233insA c.(1231-1233)GAGfs p.E411fs NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 411 Spectrin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CCTGCTCCCCCTCAAAGTCACA 0.495 NA 14 39 --- --- --- --- NA NA NA NA CCDC124 115098 broad.mit.edu 37 19 18053527 18053529 + In_Frame_Del DEL GGA GGA - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:18053527_18053529delGGA uc010xpz.1 + 3 267_269 c.222_224delGGA c.(220-225)CTGGAG>CTG p.E77del CCDC124_uc002nhs.2_In_Frame_Del_p.E77del NM_001136203 NP_001129675 Q96CT7 CC124_HUMAN coiled-coil domain containing 124 77 Potential. DNA binding 0 AGCGCCTACTGGAGGAGGAGGAC 0.675 NA 2 4 --- --- --- --- NA NA NA NA ZNF420 147923 broad.mit.edu 37 19 37619779 37619780 + Frame_Shift_Ins INS - - T rs142983916 by1000genomes TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:37619779_37619780insT uc002ofl.2 + 5 2101_2102 c.1886_1887insT c.(1885-1887)CATfs p.H629fs NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 629 C2H2-type 18. 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) CAGAGTTCACATCTTTCTCGGC 0.426 NA 38 35 --- --- --- --- NA NA NA NA RGPD4 285190 broad.mit.edu 37 2 108478175 108478175 + Frame_Shift_Del DEL A A - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:108478175delA uc010ywk.1 + 15 2266 c.2184delA c.(2182-2184)TCAfs p.S728fs RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 728 intracellular transport binding skin(2) 2 ACAGTGATTCAAATCTTTCAG 0.373 NA 8 45 --- --- --- --- NA NA NA NA NCL 4691 broad.mit.edu 37 2 232326373 232326378 + In_Frame_Del DEL TCCTCG TCCTCG - rs151176710 byFrequency TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:232326373_232326378delTCCTCG uc002vru.2 - 3 627_632 c.486_491delCGAGGA c.(484-492)GACGAGGAT>GAT p.162_164DED>D SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 162_164 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) ttcatcctcatcctcgtcctcgtcat 0.262 NA 22 44 --- --- --- --- NA NA NA NA FIBCD1 84929 broad.mit.edu 37 9 133805423 133805423 + Frame_Shift_Del DEL C C - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:133805423delC uc004bzz.2 - 2 328 c.83delG c.(82-84)TGCfs p.C28fs FIBCD1_uc011mcc.1_Frame_Shift_Del_p.C28fs|FIBCD1_uc011mcd.1_Frame_Shift_Del_p.C36fs NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 28 Cytoplasmic (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CACGTAGCCGCAGCTCGGCCG 0.682 NA 2 4 --- --- --- --- NA NA NA NA