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 CSMD2 114784 broad.mit.edu 37 1 34117999 34117999 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:34117999G>A uc001bxn.1 - 28 4419 c.4390C>T c.(4390-4392)CCC>TCC p.P1464S CSMD2_uc001bxm.1_Missense_Mutation_p.P1504S|CSMD2_uc001bxo.1_Missense_Mutation_p.P377S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1464 CUB 9.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCGGGTAGGGTTCTGGGTAA 0.567 NA 34 108 0 0 0 0 PDE4B 5142 broad.mit.edu 37 1 66379018 66379018 + Silent SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:66379018G>T uc001dcn.2 + 2 212 c.21G>T c.(19-21)GTG>GTT p.V7V PDE4B_uc009war.2_5'UTR|PDE4B_uc001dco.2_Silent_p.V7V NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 7 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) GCAGGAGTGTGATGACGGTGA 0.393 NA 33 95 1.85e-21 2.16e-21 1 0 ELTD1 64123 broad.mit.edu 37 1 79385868 79385868 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:79385868C>G uc001diq.3 - 10 1617 c.1461G>C c.(1459-1461)AAG>AAC p.K487N NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 487 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCCTACATACCTTATTAGTAT 0.313 NA 18 67 0 0 0 0 GSTM2 2946 broad.mit.edu 37 1 110211613 110211613 + Splice_Site SNP T T A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:110211613T>A uc001dyi.2 + 3 491 c.177_splice c.e3+2 p.N59_splice GSTM2_uc001dyj.2_Splice_Site_p.N59_splice|GSTM2_uc010ovt.1_Splice_Site_p.N59_splice|GSTM2_uc009wfk.2_Splice_Site NM_000848 NP_000839 P28161 GSTM2_HUMAN glutathione S-transferase mu 2 isoform 1 glutathione metabolic process|xenobiotic catabolic process cytoplasm glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TTTCCCAATGTAGGTGCAGGG 0.517 NA 20 106 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152279679 152279679 + Missense_Mutation SNP C C A rs143745201 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:152279679C>A uc001ezu.1 - 3 7719 c.7683G>T c.(7681-7683)AGG>AGT p.R2561S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2561 Ser-rich.|Filaggrin 15. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R2561R(1) ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCCCCAGTTCCTGCTTGTCC 0.587 NA Ichthyosis 129 327 1.49e-58 1.77e-58 1 0 ATP1A2 477 broad.mit.edu 37 1 160100019 160100019 + Missense_Mutation SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:160100019A>G uc001fvc.2 + 12 1721 c.1589A>G c.(1588-1590)GAG>GGG p.E530G ATP1A2_uc001fvb.2_Missense_Mutation_p.E530G|ATP1A2_uc001fvd.2_Missense_Mutation_p.E266G|ATP1A2_uc009wtg.1_Missense_Mutation_p.E218G NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 530 Cytoplasmic (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) CTCGACAAGGAGATGCAAGAT 0.612 NA 4 194 0 0 0 0 ASTN1 460 broad.mit.edu 37 1 176838011 176838011 + Missense_Mutation SNP T T G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:176838011T>G uc001glc.2 - 22 3828 c.3616A>C c.(3616-3618)ACC>CCC p.T1206P ASTN1_uc001glb.1_Missense_Mutation_p.T1206P|ASTN1_uc001gld.1_Missense_Mutation_p.T1206P NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1214 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CATCGCCAGGTGAATTCCCCA 0.473 NA 8 142 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197070075 197070075 + Missense_Mutation SNP A A C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:197070075A>C uc001gtu.2 - 18 8563 c.8306T>G c.(8305-8307)ATT>AGT p.I2769S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.I617S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2769 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTGGTTAACAATGGCTGCCAT 0.378 NA 6 190 0 0 0 0 PCNXL2 80003 broad.mit.edu 37 1 233388475 233388475 + Missense_Mutation SNP T T G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr1:233388475T>G uc001hvl.2 - 6 2129 c.1894A>C c.(1894-1896)AGT>CGT p.S632R PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_5'Flank NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 632 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TGCTTAGAACTGTGTCCACTG 0.408 NA 7 161 0 0 0 0 ZNF518A 9849 broad.mit.edu 37 10 97919954 97919954 + Missense_Mutation SNP A A T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr10:97919954A>T uc001klp.2 + 6 4732 c.3875A>T c.(3874-3876)AAA>ATA p.K1292I ZNF518A_uc001klo.1_Missense_Mutation_p.K762I|ZNF518A_uc001klq.2_Missense_Mutation_p.K1292I|ZNF518A_uc001klr.2_Missense_Mutation_p.K1292I NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CCAAGAAGAAAAGCAACATTG 0.373 NA 7 23 0 0 0 0 EIF3A 8661 broad.mit.edu 37 10 120809363 120809363 + Missense_Mutation SNP G G A rs150064739 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr10:120809363G>A uc001ldu.2 - 17 2754 c.2608C>T c.(2608-2610)CGG>TGG p.R870W EIF3A_uc010qsu.1_Missense_Mutation_p.R836W|EIF3A_uc009xzg.1_Translation_Start_Site NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 870 Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCTCTACGCCGTTCTCGTTCT 0.403 NA 103 274 0 0 0 0 EIF3A 8661 broad.mit.edu 37 10 120820798 120820798 + Missense_Mutation SNP C C A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr10:120820798C>A uc001ldu.2 - 8 1311 c.1165G>T c.(1165-1167)GAC>TAC p.D389Y EIF3A_uc010qsu.1_Missense_Mutation_p.D355Y|SNORA19_uc001ldv.2_5'Flank NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 389 PCI. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TTGTAAAGGTCTTTCACTTCT 0.348 NA 19 92 8.01e-06 8.78e-06 1 0 ACADSB 36 broad.mit.edu 37 10 124800144 124800144 + Nonsense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr10:124800144G>T uc001lhb.2 + 4 583 c.466G>T c.(466-468)GAA>TAA p.E156* ACADSB_uc010qub.1_Nonsense_Mutation_p.E54* NM_001609 NP_001600 P45954 ACDSB_HUMAN acyl-Coenzyme A dehydrogenase, short/branched 156 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) ACATGGAACAGAAGAACAAAA 0.368 NA 14 135 2.23e-06 2.47e-06 1 0 OR5L2 26338 broad.mit.edu 37 11 55594746 55594746 + Missense_Mutation SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr11:55594746T>C uc001nhy.1 + 1 52 c.52T>C c.(52-54)TCA>CCA p.S18P NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CCTTGGACTATCAGATGTCCC 0.453 NA HNSCC(27;0.073) 17 393 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55595025 55595025 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr11:55595025G>A uc001nhy.1 + 1 331 c.331G>A c.(331-333)GAG>AAG p.E111K NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TGGAGTCACTGAGGTCTTCCT 0.502 NA HNSCC(27;0.073) 55 223 0 0 0 0 OR5T3 390154 broad.mit.edu 37 11 56020106 56020106 + Missense_Mutation SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr11:56020106T>C uc010rjd.1 + 1 431 c.431T>C c.(430-432)CTC>CCC p.L144P NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 144 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) GAATGTTTTCTCTTGGCTGCA 0.403 NA 115 226 0 0 0 0 ANKRD42 338699 broad.mit.edu 37 11 82935940 82935940 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr11:82935940C>G uc001ozz.1 + 6 968 c.546C>G c.(544-546)TTC>TTG p.F182L ANKRD42_uc010rsv.1_Missense_Mutation_p.F210L|ANKRD42_uc001paa.2_Missense_Mutation_p.F210L|ANKRD42_uc001pab.1_Missense_Mutation_p.F209L NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 182 ANK 5. skin(1) 1 GTTTCAAATTCCTAGTCAGTA 0.343 NA 3 138 0 0 0 0 A2ML1 144568 broad.mit.edu 37 12 9021749 9021749 + Missense_Mutation SNP G G C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr12:9021749G>C uc001quz.3 + 33 4269 c.4171G>C c.(4171-4173)GTG>CTG p.V1391L A2ML1_uc001qva.1_Missense_Mutation_p.V971L|A2ML1_uc010sgm.1_Missense_Mutation_p.V891L|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1235 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GCAACCCCTGGTGAAGAAGGT 0.443 NA 13 238 0 0 0 0 PXN 5829 broad.mit.edu 37 12 120651735 120651735 + Silent SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr12:120651735T>C uc001txt.2 - 11 1550 c.1419A>G c.(1417-1419)GCA>GCG p.A473A PXN_uc001txu.2_Silent_p.A285A|PXN_uc001txv.2_Silent_p.A354A|PXN_uc001txx.2_Silent_p.A306A|PXN_uc001txy.2_Silent_p.A439A|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 473 LIM zinc-binding 2. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CACACTTGGGTGCGAACATGT 0.602 NA 3 10 0 0 0 0 GPR12 2835 broad.mit.edu 37 13 27333678 27333678 + Missense_Mutation SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr13:27333678C>T uc010aal.2 - 2 509 c.287G>A c.(286-288)GGA>GAA p.G96E GPR12_uc010tdl.1_Intron NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 96 Helical; Name=2; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GGTGATGAGTCCAATGCCGGC 0.547 NA 39 75 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67802500 67802500 + Nonsense_Mutation SNP C C A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr13:67802500C>A uc001vik.2 - 2 765 c.73G>T c.(73-75)GAA>TAA p.E25* PCDH9_uc001vil.2_Nonsense_Mutation_p.E25*|PCDH9_uc010thl.1_Nonsense_Mutation_p.E25*|PCDH9_uc001vin.3_Nonsense_Mutation_p.E25* NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 25 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAAATAAGTTCTTGAGCTATT 0.408 NA 39 72 4.47e-08 4.98e-08 1 0 TNFSF13B 10673 broad.mit.edu 37 13 108922758 108922758 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr13:108922758G>T uc001vqr.2 + 2 677 c.410G>T c.(409-411)GGT>GTT p.G137V TNFSF13B_uc010agj.2_Missense_Mutation_p.G137V NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 137 Extracellular (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) GCCGTTCAGGGTCCAGAAGAA 0.463 NA 18 64 1.34e-09 1.5e-09 1 0 NYNRIN 57523 broad.mit.edu 37 14 24884881 24884881 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr14:24884881G>A uc001wpf.3 + 9 4244 c.3926G>A c.(3925-3927)TGC>TAC p.C1309Y NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1309 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 ACGTTCGTCTGCATCCACATG 0.617 NA 129 147 0 0 0 0 LRFN5 145581 broad.mit.edu 37 14 42357171 42357171 + Missense_Mutation SNP A A C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr14:42357171A>C uc001wvm.2 + 3 2541 c.1343A>C c.(1342-1344)CAA>CCA p.Q448P LRFN5_uc010ana.2_Missense_Mutation_p.Q448P NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 448 Extracellular (Potential).|Fibronectin type-III. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CGTATGTTTCAAATCCAGTAC 0.323 NA HNSCC(30;0.082) 27 36 0 0 0 0 SIX6 4990 broad.mit.edu 37 14 60976178 60976178 + Missense_Mutation SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr14:60976178T>C uc001xfa.3 + 1 241 c.62T>C c.(61-63)CTG>CCG p.L21P NM_007374 NP_031400 O95475 SIX6_HUMAN SIX homeobox 6 21 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.088) TGTGAGACCCTGGAAGAGAGC 0.662 NA 10 107 0 0 0 0 AKAP5 9495 broad.mit.edu 37 14 64935861 64935861 + Missense_Mutation SNP T T A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr14:64935861T>A uc001xhd.3 + 2 1127 c.749T>A c.(748-750)CTT>CAT p.L250H ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 250 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) GCAAGCCCACTTGAAACTTCA 0.418 NA 135 93 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412488 105412488 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr14:105412488G>A uc010axc.1 - 7 9420 c.9300C>T c.(9298-9300)CCC>CCT p.P3100P AHNAK2_uc001ypx.2_Silent_p.P3000P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3100 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCCACGTCGGGGGCCGTCA 0.632 NA 9 292 0 0 0 0 TRIM69 140691 broad.mit.edu 37 15 45047248 45047248 + Missense_Mutation SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr15:45047248A>G uc001zuf.2 + 3 1052 c.157A>G c.(157-159)ATG>GTG p.M53V TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.M53V|TRIM69_uc001zuh.1_Intron NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 53 Necessary for nuclear localization (By similarity).|RING-type. apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AGACCCACTGATGCTAAGCTG 0.458 NA 18 151 0 0 0 0 SEMA6D 80031 broad.mit.edu 37 15 48062786 48062786 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr15:48062786G>A uc010bek.2 + 19 2386 c.2026G>A c.(2026-2028)GCA>ACA p.A676T SEMA6D_uc001zvw.2_Missense_Mutation_p.A614T|SEMA6D_uc001zvy.2_Missense_Mutation_p.A676T|SEMA6D_uc001zvz.2_Missense_Mutation_p.A620T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.A614T|SEMA6D_uc001zwc.2_Missense_Mutation_p.A601T NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 676 Helical; (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGTTTTGGGGGCATTCATTGC 0.468 NA 5 211 0 0 0 0 UNC45A 55898 broad.mit.edu 37 15 91491052 91491052 + Silent SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr15:91491052A>G uc002bqg.2 + 11 1867 c.1527A>G c.(1525-1527)GGA>GGG p.G509G UNC45A_uc002bqd.2_Silent_p.G494G|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 509 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTTCGGCTGGAGGGACTGACT 0.577 NA 4 54 0 0 0 0 CDR2 1039 broad.mit.edu 37 16 22361124 22361124 + Missense_Mutation SNP T T A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr16:22361124T>A uc002dkn.2 - 3 547 c.239A>T c.(238-240)CAT>CTT p.H80L NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 80 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) AACCTTTGCATGTTGTTCGTT 0.428 NA 63 148 0 0 0 0 VPS35 55737 broad.mit.edu 37 16 46717472 46717472 + Missense_Mutation SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr16:46717472T>C uc002eef.3 - 2 149 c.50A>G c.(49-51)GAT>GGT p.D17G VPS35_uc002eee.2_5'UTR NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 17 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TATGGCTTCATCCAAGAGCTT 0.458 NA 20 78 0 0 0 0 RBL2 5934 broad.mit.edu 37 16 53515593 53515593 + Missense_Mutation SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr16:53515593C>T uc002ehi.3 + 21 3213 c.3095C>T c.(3094-3096)CCT>CTT p.P1032L RBL2_uc002ehj.2_Missense_Mutation_p.P742L|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1032 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ATGGATGCTCCTCCACTCTCT 0.313 NA 4 37 0 0 0 0 CRK 1398 broad.mit.edu 37 17 1340132 1340132 + Missense_Mutation SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:1340132C>T uc002fsl.2 - 2 692 c.559G>A c.(559-561)GTC>ATC p.V187I CRK_uc002fsm.2_Missense_Mutation_p.V187I NM_016823 NP_058431 P46108 CRK_HUMAN v-crk sarcoma virus CT10 oncogene homolog 187 SH3 1. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding lung(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) TACTTCTCGACGTAAGGGACT 0.577 NA 25 128 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:7578271T>A uc002gim.2 - 6 772 c.578A>T c.(577-579)CAT>CTT p.H193L TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; 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.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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) TCGGATAAGATGCTGAGGAGG 0.562 111 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) 44 30 0 0 0 0 SLFN5 162394 broad.mit.edu 37 17 33592377 33592377 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:33592377G>T uc002hjf.3 + 5 2263 c.2146G>T c.(2146-2148)GGT>TGT p.G716C SLFN5_uc010wcg.1_3'UTR NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 716 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) CCGCAATGCAGGTCCAATAGC 0.507 NA 34 91 2.08e-15 2.39e-15 1 0 SLFN11 91607 broad.mit.edu 37 17 33679727 33679727 + Missense_Mutation SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:33679727A>G uc010ctp.2 - 7 2796 c.2354T>C c.(2353-2355)GTG>GCG p.V785A SLFN11_uc010ctq.2_Missense_Mutation_p.V785A|SLFN11_uc002hjh.3_Missense_Mutation_p.V785A|SLFN11_uc002hjg.3_Missense_Mutation_p.V785A|SLFN11_uc010ctr.2_Missense_Mutation_p.V785A NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 785 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TATTTGCTCCACAGTCAAGTA 0.488 NA 13 46 0 0 0 0 C17orf98 388381 broad.mit.edu 37 17 36997562 36997562 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:36997562G>A uc002hqv.2 - 1 81 c.81C>T c.(79-81)CGC>CGT p.R27R NM_001080465 NP_001073934 A8MV24 CQ098_HUMAN hypothetical protein LOC388381 27 0 GCCCATAAGCGCGGGCAGCGG 0.637 NA 4 85 0 0 0 0 IKZF3 22806 broad.mit.edu 37 17 37922445 37922445 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:37922445G>A uc002hsu.2 - 8 1190 c.1128C>T c.(1126-1128)GGC>GGT p.G376G IKZF3_uc002htd.2_Silent_p.G342G|IKZF3_uc010cwd.2_Silent_p.G233G|IKZF3_uc002hsv.2_Silent_p.G303G|IKZF3_uc010cwe.2_Silent_p.G242G|IKZF3_uc010cwf.2_Silent_p.G194G|IKZF3_uc010cwg.2_Silent_p.G155G|IKZF3_uc002hsw.2_Silent_p.G337G|IKZF3_uc002hsx.2_Silent_p.G320G|IKZF3_uc002hsy.2_Silent_p.G337G|IKZF3_uc002hsz.2_Silent_p.G281G|IKZF3_uc002hta.2_Silent_p.G298G|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.G289G|IKZF3_uc002htc.2_Silent_p.G129G|IKZF3_uc010wel.1_Silent_p.G129G NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 376 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGGAGAGAGGCCTCTCTCAG 0.532 NA 15 199 0 0 0 0 SUPT4H1 6827 broad.mit.edu 37 17 56429452 56429452 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:56429452G>A uc002iwe.1 - 1 112 c.45C>T c.(43-45)GCC>GCT p.A15A uc010dct.1_RNA|uc010dcu.1_RNA|uc002ivz.2_RNA|uc010dcv.1_RNA|uc002iwa.2_RNA|uc002iwb.2_RNA|uc002iwc.2_RNA|SUPT4H1_uc002iwd.1_RNA NM_003168 NP_003159 P63272 SPT4H_HUMAN suppressor of Ty 4 homolog 1 15 Interaction with SUPT5H. chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACAGCAAACAGGCCCGCAGAT 0.632 NA 15 78 0 0 0 0 TLK2 11011 broad.mit.edu 37 17 60657496 60657496 + Silent SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:60657496T>C uc010ddp.2 + 16 1645 c.1377T>C c.(1375-1377)AAT>AAC p.N459N TLK2_uc002izx.3_Silent_p.N285N|TLK2_uc002izz.3_Silent_p.N437N|TLK2_uc002jaa.3_Silent_p.N405N|TLK2_uc010wpd.1_Silent_p.N405N NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 459 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 CAACGCTAAATGACAGATATT 0.383 NA 16 63 0 0 0 0 RAB37 326624 broad.mit.edu 37 17 72741163 72741163 + Missense_Mutation SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr17:72741163T>C uc002jlk.2 + 8 562 c.506T>C c.(505-507)TTC>TCC p.F169S RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.F162S|RAB37_uc002jld.2_Missense_Mutation_p.F162S|RAB37_uc010wrb.1_Missense_Mutation_p.F137S|RAB37_uc010wrc.1_Missense_Mutation_p.F174S|RAB37_uc010wrd.1_Missense_Mutation_p.F137S|RAB37_uc010wre.1_Missense_Mutation_p.F132S|RAB37_uc002jll.3_RNA NM_001006638 NP_001006639 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family isoform 2 169 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding ovary(1) 1 GGTGTTCCCTTCCTGGAGACC 0.627 NA OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 72 0 0 0 0 TJP3 27134 broad.mit.edu 37 19 3738943 3738943 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:3738943G>A uc010xhv.1 + 12 1541 c.1541G>A c.(1540-1542)CGC>CAC p.R514H TJP3_uc010xhs.1_Missense_Mutation_p.R481H|TJP3_uc010xht.1_Missense_Mutation_p.R445H|TJP3_uc010xhu.1_Missense_Mutation_p.R490H|TJP3_uc010xhw.1_Missense_Mutation_p.R500H NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 495 SH3. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTACATCCGCACTCACTTT 0.647 NA 4 97 0 0 0 0 FCER2 2208 broad.mit.edu 37 19 7755094 7755094 + Missense_Mutation SNP C C A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:7755094C>A uc002mhn.2 - 10 863 c.679G>T c.(679-681)GAC>TAC p.D227Y FCER2_uc010xjs.1_Missense_Mutation_p.D149Y|FCER2_uc010xjt.1_Missense_Mutation_p.D149Y|FCER2_uc002mhm.2_Missense_Mutation_p.D227Y NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 227 C-type lectin.|Extracellular (Potential). positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 CCCTTCAGGTCCAAGTTCCGA 0.617 NA 9 59 0.00448238 0.00466078 1 0 MUC16 94025 broad.mit.edu 37 19 9060492 9060492 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:9060492G>A uc002mkp.2 - 3 27158 c.26954C>T c.(26953-26955)GCT>GTT p.A8985V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8987 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCAGAGGAAGCAGGTATGGT 0.498 NA 29 183 0 0 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52129338 52129338 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:52129338C>G uc002pxe.2 - 8 1550 c.1411G>C c.(1411-1413)GGG>CGG p.G471R NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 471 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TCTGGTCTCCCAGCTGCTTGC 0.547 NA 11 120 0 0 0 0 ZNF845 91664 broad.mit.edu 37 19 53854664 53854664 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:53854664G>A uc010ydv.1 + 4 853 c.736G>A c.(736-738)GAT>AAT p.D246N ZNF845_uc010ydw.1_Missense_Mutation_p.D246N NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 246 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATATAAATGTGATGTGTGTGG 0.368 NA 8 75 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56466469 56466469 + Missense_Mutation SNP C C A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:56466469C>A uc002qmh.2 + 3 1116 c.1045C>A c.(1045-1047)CCC>ACC p.P349T NLRP8_uc010etg.2_Missense_Mutation_p.P349T NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 349 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCTGAAATGTCCCTCTCTCGT 0.453 NA 13 168 0.000219431 0.000232208 1 0 ZNF135 7694 broad.mit.edu 37 19 58579671 58579671 + Missense_Mutation SNP G G C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr19:58579671G>C uc010yhq.1 + 5 1951 c.1855G>C c.(1855-1857)GAG>CAG p.E619Q ZNF135_uc002qre.2_Missense_Mutation_p.E607Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.E565Q|ZNF135_uc002qrg.2_Missense_Mutation_p.E577Q|ZNF135_uc010yhr.1_Missense_Mutation_p.E428Q NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 619 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AAAGCCCTATGAGTGTCACGA 0.557 NA 5 167 0 0 0 0 CDKL4 344387 broad.mit.edu 37 2 39456583 39456583 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr2:39456583C>G uc002rrm.2 - 1 91 c.91G>C c.(91-93)GCT>CCT p.A31P CDKL4_uc010fal.1_Missense_Mutation_p.A31P NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 31 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) TTTTTAACAGCTACTACTTGT 0.323 NA 4 199 0 0 0 0 MMADHC 27249 broad.mit.edu 37 2 150426656 150426656 + Silent SNP A A T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr2:150426656A>T uc002txb.2 - 7 1228 c.723T>A c.(721-723)ACT>ACA p.T241T MMADHC_uc002txc.2_Silent_p.T241T|MMADHC_uc010fnu.2_Silent_p.T275T NM_015702 NP_056517 Q9H3L0 MMAD_HUMAN methylmalonic aciduria (cobalamin deficiency) 241 mitochondrion central_nervous_system(1)|skin(1) 2 TTTCAAAAAGAGTGTTGTTTG 0.343 NA 12 60 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152580789 152580789 + Silent SNP G G C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr2:152580789G>C uc010fnx.2 - 8 788 c.597C>G c.(595-597)ACC>ACG p.T199T NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 199 Nebulin 4. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGAACATGGCGGTGTTCTTAA 0.453 NA 7 31 0 0 0 0 DCAF17 80067 broad.mit.edu 37 2 172309702 172309702 + Silent SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr2:172309702G>T uc002ugx.2 + 6 835 c.606G>T c.(604-606)GGG>GGT p.G202G DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Silent_p.G202G|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 202 Helical; (Potential). CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 CACTTGTAGGGATTCTAGAGA 0.328 NA 6 112 8.13e-05 8.62e-05 1 0 FAM126B 285172 broad.mit.edu 37 2 201881853 201881853 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr2:201881853C>G uc002uws.3 - 5 382 c.194G>C c.(193-195)CGT>CCT p.R65P FAM126B_uc002uwu.2_5'UTR|FAM126B_uc002uwv.2_Missense_Mutation_p.R65P|FAM126B_uc002uww.1_Missense_Mutation_p.R65P NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 65 intracellular ovary(1) 1 CTCTGAGCTACGATAGAGCTC 0.423 NA 8 81 0 0 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263354 232263354 + Silent SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr2:232263354C>T uc002vrs.2 + 2 1104 c.924C>T c.(922-924)AGC>AGT p.S308S NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 308 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TGGCCGGCAGCCTGGCCCGGC 0.652 NA 13 15 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40743873 40743873 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr20:40743873G>T uc002xkg.2 - 22 3249 c.3065C>A c.(3064-3066)GCA>GAA p.A1022E PTPRT_uc010ggj.2_Missense_Mutation_p.A1041E|PTPRT_uc010ggi.2_Missense_Mutation_p.A225E NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1022 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACGTATTCTGCCAGGGGCTC 0.488 NA 30 143 4.23e-30 4.99e-30 1 0 SETD2 29072 broad.mit.edu 37 3 47164649 47164649 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:47164649G>A uc003cqs.2 - 3 1530 c.1477C>T c.(1477-1479)CGG>TGG p.R493W SETD2_uc003cqv.2_Missense_Mutation_p.R482W NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTACAGTCCCGATCAGATTTA 0.383 NA N|F|S|Mis clear cell renal carcinoma 3 46 0 0 0 0 PBRM1 55193 broad.mit.edu 37 3 52651513 52651513 + Missense_Mutation SNP T T A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:52651513T>A uc003des.2 - 14 1595 c.1583A>T c.(1582-1584)AAT>ATT p.N528I PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N528I|PBRM1_uc003der.2_Missense_Mutation_p.N496I|PBRM1_uc003det.2_Missense_Mutation_p.N543I|PBRM1_uc003deu.2_Missense_Mutation_p.N543I|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N528I|PBRM1_uc010hmk.1_Missense_Mutation_p.N528I|PBRM1_uc003dey.2_Missense_Mutation_p.N528I|PBRM1_uc003dez.1_Missense_Mutation_p.N528I|PBRM1_uc003dfb.1_Missense_Mutation_p.N441I|PBRM1_uc003dfc.2_5'Flank NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 528 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AAGAACAACATTGAATAAGAT 0.348 NA Mis|N|F|S|D|O clear cell renal carcinoma|breast 33 51 0 0 0 0 CADPS 8618 broad.mit.edu 37 3 62388773 62388773 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:62388773G>T uc003dll.2 - 29 4225 c.3865C>A c.(3865-3867)CTA>ATA p.L1289I CADPS_uc003dlj.1_Missense_Mutation_p.L244I|CADPS_uc003dlk.1_Missense_Mutation_p.L737I|CADPS_uc003dlm.2_Missense_Mutation_p.L1250I|CADPS_uc003dln.2_Missense_Mutation_p.L1210I NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1289 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ATCCTAATTAGTGTTTTCAAC 0.373 NA 14 35 0.00185496 0.00194817 1 0 CCDC14 64770 broad.mit.edu 37 3 123633809 123633809 + Silent SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:123633809C>T uc011bjx.1 - 13 2770 c.2679G>A c.(2677-2679)GTG>GTA p.V893V CCDC14_uc003egv.3_Silent_p.V534V|CCDC14_uc003egx.3_Silent_p.V693V|CCDC14_uc010hrt.2_Silent_p.V852V|CCDC14_uc003egy.3_Silent_p.V693V|CCDC14_uc003egz.2_3'UTR NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 893 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) TATTGCCTTTCACTTGAAGGC 0.458 NA 11 48 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155301387 155301387 + Silent SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:155301387C>T uc011bok.1 - 5 886 c.609G>A c.(607-609)GAG>GAA p.E203E PLCH1_uc011boj.1_Silent_p.E203E|PLCH1_uc011bol.1_Silent_p.E185E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 203 EF-hand 2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AAACACAGAACTCTTCAAATG 0.358 NA 35 58 0 0 0 0 ZBBX 79740 broad.mit.edu 37 3 167000124 167000124 + Missense_Mutation SNP T T C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:167000124T>C uc003fep.2 - 19 2362 c.2039A>G c.(2038-2040)GAT>GGT p.D680G ZBBX_uc011bpc.1_Missense_Mutation_p.D719G|ZBBX_uc003feq.2_Missense_Mutation_p.D651G NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 680 intracellular zinc ion binding ovary(2) 2 GTCAGTAATATCAATATATTC 0.383 NA 18 162 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 20 122 0 0 0 0 BEND4 389206 broad.mit.edu 37 4 42145872 42145872 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr4:42145872G>A uc003gwn.2 - 3 1207 c.627C>T c.(625-627)AAC>AAT p.N209N BEND4_uc003gwm.2_Silent_p.N209N|BEND4_uc011byy.1_Silent_p.N209N NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 209 0 CCTGTCTTTCGTTGTAACTTG 0.443 NA 11 38 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126369690 126369690 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr4:126369690G>T uc003ifj.3 + 9 7519 c.7519G>T c.(7519-7521)GGT>TGT p.G2507C FAT4_uc011cgp.1_Missense_Mutation_p.G805C|FAT4_uc003ifi.1_5'UTR NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2507 Extracellular (Potential).|Cadherin 24. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTCTCTTTCGGGTAGAAATTC 0.423 NA 9 129 2.18e-05 2.35e-05 1 0 NPY5R 4889 broad.mit.edu 37 4 164272513 164272513 + Missense_Mutation SNP C C A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr4:164272513C>A uc003iqn.2 + 4 1270 c.1088C>A c.(1087-1089)TCT>TAT p.S363Y NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 363 Cytoplasmic (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) AAAAAGAGATCTCGAAGTGTT 0.358 NA 16 110 0.000422831 0.000445198 1 0 PRDM9 56979 broad.mit.edu 37 5 23510109 23510109 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:23510109G>T uc003jgo.2 + 4 456 c.274G>T c.(274-276)GAT>TAT p.D92Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 92 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAAGATTCTGATGAAGAATG 0.363 NA HNSCC(3;0.000094) 11 85 2.81e-09 3.14e-09 1 0 FYB 2533 broad.mit.edu 37 5 39110492 39110492 + Splice_Site SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:39110492C>G uc003jls.2 - 15 2331 c.2264_splice c.e15-1 p.Y755_splice FYB_uc003jlt.2_Splice_Site_p.Y801_splice|FYB_uc003jlu.2_Splice_Site_p.Y755_splice|FYB_uc011cpl.1_Splice_Site_p.Y811_splice NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) ACATAACCATCTACGAAGGAA 0.308 NA 5 49 0 0 0 0 CARD6 84674 broad.mit.edu 37 5 40854367 40854367 + Missense_Mutation SNP A A T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:40854367A>T uc003jmg.2 + 3 3008 c.2933A>T c.(2932-2934)CAG>CTG p.Q978L NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 978 Pro-rich. apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 TGTCAGTCCCAGCCCTCCCAA 0.532 NA 12 513 0 0 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79734565 79734565 + Silent SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:79734565C>T uc003kgr.3 + 4 2363 c.2061C>T c.(2059-2061)ATC>ATT p.I687I ZFYVE16_uc010jak.1_Silent_p.I687I|ZFYVE16_uc003kgp.2_Silent_p.I687I|ZFYVE16_uc003kgq.3_Silent_p.I687I|ZFYVE16_uc003kgs.3_Silent_p.I687I NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 687 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TTGTTCCAATCACTTGTGCTA 0.403 NA 4 128 0 0 0 0 RIOK2 55781 broad.mit.edu 37 5 96503521 96503521 + Silent SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:96503521C>G uc003kmz.2 - 8 1157 c.1047G>C c.(1045-1047)GGG>GGC p.G349G RIOK2_uc003kna.3_Silent_p.G349G NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN RIO kinase 2 isoform 1 349 Protein kinase. ATP binding|protein serine/threonine kinase activity kidney(1) 1 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CATTTTCTGACCCGTAAACCT 0.393 NA 50 279 0 0 0 0 VDAC1 7416 broad.mit.edu 37 5 133326807 133326807 + Silent SNP G G C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:133326807G>C uc003kyp.1 - 4 255 c.156C>G c.(154-156)ACC>ACG p.T52T VDAC1_uc003kyq.1_Silent_p.T52T|VDAC1_uc003kyr.1_Silent_p.T52T NM_003374 NP_003365 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 52 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) CCGTCACTTTGGTGGTCTCAG 0.488 NA 32 167 0 0 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746136 140746136 + Missense_Mutation SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr5:140746136C>T uc003lju.1 + 1 2239 c.2239C>T c.(2239-2241)CGG>TGG p.R747W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.R747W NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 747 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGGGGTTCGGGCTTTCCT 0.627 NA 49 125 0 0 0 0 SERPINB6 5269 broad.mit.edu 37 6 2953378 2953378 + Missense_Mutation SNP A A C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:2953378A>C uc003muk.2 - 4 2468 c.473T>G c.(472-474)TTG>TGG p.L158W SERPINB6_uc003mui.2_Missense_Mutation_p.L41W|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.L158W|SERPINB6_uc003mum.2_Missense_Mutation_p.L158W|SERPINB6_uc003mun.2_Missense_Mutation_p.L158W|SERPINB6_uc003muo.2_Missense_Mutation_p.L158W NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 158 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CAGCCTTGTCAATGGATCCAC 0.502 NA OREG0017145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 475 0 0 0 0 OR2J2 26707 broad.mit.edu 37 6 29141542 29141542 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:29141542C>G uc011dlm.1 + 1 232 c.130C>G c.(130-132)CTG>GTG p.L44V NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GACAGGAAACCTGTTCATCAT 0.428 NA 57 315 0 0 0 0 MUC21 394263 broad.mit.edu 37 6 30954441 30954441 + Silent SNP C C T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:30954441C>T uc003nsh.2 + 2 740 c.489C>T c.(487-489)AGC>AGT p.S163S MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 163 Ser-rich.|28 X 15 AA approximate tandem repeats.|9.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 GTGAGGCCAGCACAGCCACCA 0.617 NA 71 290 0 0 0 0 MUC21 394263 broad.mit.edu 37 6 30954455 30954455 + Missense_Mutation SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:30954455C>G uc003nsh.2 + 2 754 c.503C>G c.(502-504)TCT>TGT p.S168C MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 168 28 X 15 AA approximate tandem repeats.|Ser-rich.|10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 GCCACCAACTCTGAGTCCAGC 0.607 NA 77 317 0 0 0 0 C6orf26 401251 broad.mit.edu 37 6 31731931 31731931 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:31731931G>A uc003nxa.3 + 3 405 c.346G>A c.(346-348)GAG>AAG p.E116K MSH5_uc003nwz.3_RNA NM_001039651 NP_001034740 Q5SSQ6 G7D_HUMAN hypothetical protein LOC401251 116 0 TCTGATTCATGAGAAGGTGAG 0.443 NA 27 227 0 0 0 0 MEP1A 4224 broad.mit.edu 37 6 46802421 46802421 + Silent SNP C C G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:46802421C>G uc010jzh.1 + 12 1758 c.1716C>G c.(1714-1716)TCC>TCG p.S572S MEP1A_uc011dwg.1_Silent_p.S294S|MEP1A_uc011dwh.1_Silent_p.S600S|MEP1A_uc011dwi.1_Silent_p.S472S NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 572 MATH.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GTTTCATTTCCCACCAAATGC 0.438 NA 6 183 0 0 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763885 110763885 + Missense_Mutation SNP A A C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:110763885A>C uc003puf.2 - 4 812 c.745T>G c.(745-747)TTT>GTT p.F249V SLC22A16_uc003pue.2_Missense_Mutation_p.F230V NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 249 Helical; (Potential). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ACTGCAAAAAAGGAATGCAAA 0.483 NA 24 80 0 0 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979372 124979372 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:124979372G>A uc003pzo.2 + 4 591 c.314G>A c.(313-315)CGA>CAA p.R105Q NKAIN2_uc003pzn.1_Missense_Mutation_p.R105Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.R104Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.R15Q NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 105 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) TCAATGCACCGATCTTGGTGG 0.463 NA 20 95 0 0 0 0 RAET1E 135250 broad.mit.edu 37 6 150210664 150210664 + Missense_Mutation SNP G G T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:150210664G>T uc003qnl.1 - 3 502 c.442C>A c.(442-444)CTC>ATC p.L148I uc003qni.1_Intron|RAET1E_uc003qnj.2_Missense_Mutation_p.L148I|RAET1E_uc003qnk.1_Missense_Mutation_p.L112I|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 148 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) TCAAAGAGGAGGGATTTCTCT 0.468 NA 6 162 1.13e-05 1.23e-05 1 0 MTRF1L 54516 broad.mit.edu 37 6 153316432 153316432 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:153316432G>A uc003qpi.3 - 3 467 c.362C>T c.(361-363)TCA>TTA p.S121L MTRF1L_uc003qpl.3_Missense_Mutation_p.S121L|MTRF1L_uc011efa.1_Missense_Mutation_p.S121L|MTRF1L_uc003qpj.3_Intron|MTRF1L_uc003qpk.3_Missense_Mutation_p.S121L NM_019041 NP_061914 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 121 mitochondrion translation release factor activity, codon specific 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) TGTTTCTTCTGAGGGAACCAA 0.303 NA 5 48 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11464388 11464388 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr7:11464388G>A uc003ssf.3 - 15 3570 c.3318C>T c.(3316-3318)ATC>ATT p.I1106I NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1106 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCACCTTGCAGATGCTCCAGG 0.493 NA HNSCC(18;0.044) 43 265 0 0 0 0 SEMA3A 10371 broad.mit.edu 37 7 83590840 83590840 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr7:83590840G>A uc003uhz.2 - 17 2478 c.2163C>T c.(2161-2163)TTC>TTT p.F721F NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 721 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 CTTGTTCACAGAACTCATCCA 0.453 NA 16 176 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86394556 86394556 + Missense_Mutation SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr7:86394556A>G uc003uid.2 + 2 1194 c.95A>G c.(94-96)GAG>GGG p.E32G GRM3_uc010lef.2_Missense_Mutation_p.E30G|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 32 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CTAAGGAGAGAGATTAAAATA 0.408 NA 7 204 0 0 0 0 INSIG1 3638 broad.mit.edu 37 7 155093339 155093339 + Missense_Mutation SNP G G C TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr7:155093339G>C uc003wly.2 + 3 687 c.476G>C c.(475-477)AGA>ACA p.R159T INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 159 Cytoplasmic. cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAATTTAAGAGAGAATGGGCC 0.443 NA 79 197 0 0 0 0 ADRB3 155 broad.mit.edu 37 8 37823588 37823588 + Missense_Mutation SNP C C A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr8:37823588C>A uc003xkr.1 - 1 597 c.400G>T c.(400-402)GAC>TAC p.D134Y NM_000025 NP_000016 P13945 ADRB3_HUMAN adrenergic, beta-3-, receptor 134 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity lung(2) 2 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) AGGTAGCGGTCCACGGCCAGG 0.692 NA 8 10 1.13e-05 1.23e-05 1 0 STK3 6788 broad.mit.edu 37 8 99468078 99468078 + Missense_Mutation SNP T T G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr8:99468078T>G uc003yip.2 - 11 1609 c.1468A>C c.(1468-1470)AAC>CAC p.N490H STK3_uc003yio.2_Missense_Mutation_p.N518H NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 490 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) ACTCAAAAGTTTTGCTGCCTT 0.388 NA 6 55 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413947 139413947 + Silent SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr9:139413947G>A uc004chz.2 - 5 813 c.813C>T c.(811-813)GCC>GCT p.A271A NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 271 Extracellular (Potential).|EGF-like 7; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTCCACACAGGCACCCCCGT 0.647 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 41 126 0 0 0 0 PNPLA7 375775 broad.mit.edu 37 9 140361788 140361788 + Missense_Mutation SNP C C T rs28415505 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr9:140361788C>T uc004cnf.2 - 25 3282 c.2945G>A c.(2944-2946)CGG>CAG p.R982Q C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.R248Q|PNPLA7_uc004cne.1_Missense_Mutation_p.R248Q|PNPLA7_uc011mfa.1_Missense_Mutation_p.R390Q|PNPLA7_uc010ncj.1_Missense_Mutation_p.R1007Q NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 982 Patatin. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CTGCTTGGCCCGGATCCGCAT 0.672 NA 18 39 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37029320 37029320 + Missense_Mutation SNP A A T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chrX:37029320A>T uc004ddl.1 + 1 2851 c.2837A>T c.(2836-2838)AAG>ATG p.K946M NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 946 ovary(3) 3 CTCAAGCCTAAGTTGGGGAAA 0.453 NA 49 50 0 0 0 0 SYP 6855 broad.mit.edu 37 X 49049871 49049871 + Missense_Mutation SNP G G A TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chrX:49049871G>A uc004dmz.1 - 5 489 c.473C>T c.(472-474)TCG>TTG p.S158L SYP_uc011mmz.1_Missense_Mutation_p.S40L|SYP_uc004dna.1_Missense_Mutation_p.S152L NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 158 MARVEL.|Helical; (Potential). S -> L. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) GGCCCATGCCGATGAGCTAAC 0.562 NA 11 10 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123587207 123587207 + Missense_Mutation SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chrX:123587207A>G uc004euj.2 - 22 4127 c.4063T>C c.(4063-4065)TCA>CCA p.S1355P ODZ1_uc011muj.1_Missense_Mutation_p.S1361P|ODZ1_uc010nqy.2_Missense_Mutation_p.S1362P NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1355 NHL 3.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCCATTCCTGAGTCACAGCTC 0.413 NA 4 98 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109698310 109698323 + Frame_Shift_Del DEL TGGAGCCTACATCG TGGAGCCTACATCG - rs142275188 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr12:109698310_109698323delTGGAGCCTACATCG uc001tob.2 + 48 6641_6654 c.6522_6535delTGGAGCCTACATCG c.(6520-6537)TTTGGAGCCTACATCGTGfs p.F2174fs ACACB_uc001toc.2_Frame_Shift_Del_p.F2174fs|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Frame_Shift_Del_p.F840fs NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2174_2179 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TGCTGAAGTTTGGAGCCTACATCGTGGACGGCCT 0.542 NA 31 185 --- --- --- --- NA NA NA NA SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr13:23914687delT uc001uon.2 - 10 3917 c.3328delA c.(3328-3330)ATTfs p.I1110fs SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 NA 7 500 --- --- --- --- NA NA NA NA RASGRP1 10125 broad.mit.edu 37 15 38786881 38786881 + Frame_Shift_Del DEL C C - TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr15:38786881delC uc001zke.3 - 16 2139 c.1961delG c.(1960-1962)GGAfs p.G654fs RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Frame_Shift_Del_p.G619fs NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 654 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGAGGACACTCCCATCAGCAT 0.527 NA 27 19 --- --- --- --- NA NA NA NA ADPGK 83440 broad.mit.edu 37 15 73044826 73044827 + Frame_Shift_Ins INS - - T TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr15:73044826_73044827insT uc002avg.3 - 7 1443_1444 c.1349_1350insA c.(1348-1350)AAGfs p.K450fs ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 450 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 CTACTACTGGCTTGTTTGGGTT 0.49 NA 14 237 --- --- --- --- NA NA NA NA SAMD10 140700 broad.mit.edu 37 20 62608688 62608706 + Frame_Shift_Del DEL AGTGGCAGGGGATGCTCTC AGTGGCAGGGGATGCTCTC - TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr20:62608688_62608706delAGTGGCAGGGGATGCTCTC uc002yhm.2 - 2 320_338 c.145_163delGAGAGCATCCCCTGCCACT c.(145-165)GAGAGCATCCCCTGCCACTTGfs p.E49fs SAMD10_uc002yhn.2_RNA NM_080621 NP_542188 Q9BYL1 SAM10_HUMAN sterile alpha motif domain containing 10 49_55 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) GTCCGAGGCAAGTGGCAGGGGATGCTCTCAGCTGACACC 0.658 NA 18 97 --- --- --- --- NA NA NA NA NF2 4771 broad.mit.edu 37 22 30057317 30057318 + Frame_Shift_Ins INS - - GT TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr22:30057317_30057318insGT uc003age.3 + 8 1242_1243 c.799_800insGT c.(799-801)AGTfs p.S267fs NF2_uc003afy.3_Frame_Shift_Ins_p.S267fs|NF2_uc003afz.3_Frame_Shift_Ins_p.S184fs|NF2_uc003agf.3_Frame_Shift_Ins_p.S267fs|NF2_uc003agb.3_Frame_Shift_Ins_p.S190fs|NF2_uc003agc.3_Frame_Shift_Ins_p.S229fs|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Frame_Shift_Ins_p.S267fs|NF2_uc003aga.3_Frame_Shift_Ins_p.S225fs|NF2_uc003agh.3_Frame_Shift_Ins_p.S226fs|NF2_uc003agi.3_Frame_Shift_Ins_p.S184fs|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Frame_Shift_Ins_p.S229fs NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 267 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.L127_D382del(1)|p.N226_E270del(1)|p.?(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 CATCTCGTACAGTGACAAGGAG 0.554 NA D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 86 77 --- --- --- --- NA NA NA NA BAIAP2L2 80115 broad.mit.edu 37 22 38483189 38483190 + In_Frame_Ins INS - - GGTCATGGA rs71803583 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr22:38483189_38483190insGGTCATGGA uc003auw.2 - 11 1344_1345 c.1200_1201insTCCATGACC c.(1198-1203)insTCCATGACC p.403_404insSMT BAIAP2L2_uc003auv.2_5'Flank NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 403_404 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) gaggtcatggaggtcatggggg 0.45 NA 7 38 --- --- --- --- NA NA NA NA FANCD2 2177 broad.mit.edu 37 3 10088407 10088410 + Splice_Site DEL AGTA AGTA - rs146316187 TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:10088407_10088410delAGTA uc003buw.2 + 15 1356 c.1278_splice c.e15+1 p.L426_splice FANCD2_uc003bux.1_Splice_Site_p.L426_splice|FANCD2_uc003buy.1_Splice_Site_p.L426_splice|FANCD2_uc010hcw.1_5'Flank NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATTACTTAGTAAGTGTCAGAG 0.235 NA D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 19 69 --- --- --- --- NA NA NA NA LRRC34 151827 broad.mit.edu 37 3 169514642 169514643 + Frame_Shift_Del DEL AG AG - TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr3:169514642_169514643delAG uc003ffx.2 - 7 678_679 c.663_664delCT c.(661-666)CACTGTfs p.H221fs LRRC34_uc003ffy.2_Frame_Shift_Del_p.H253fs|LRRC34_uc011bpn.1_Frame_Shift_Del_p.H253fs|LRRC34_uc003ffz.2_Frame_Shift_Del_p.H205fs|LRRC34_uc003fga.3_Frame_Shift_Del_p.H205fs NM_153353 NP_699184 Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 221_222 0 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GCAACAAGACAGTGATTTTCTT 0.351 NA 20 214 --- --- --- --- NA NA NA NA STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a419a54c-58b4-4682-aaca-ed85697dd2a0 59b70846-64f0-489e-8ea5-84a347aedeb8 g.chr6:31939825_31939826insG uc003nyv.2 + 1 180_181 c.52_53insG c.(52-54)CGGfs p.R18fs DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN serine/threonine kinase 19 isoform 2 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(4) 4 GCGACAGTGGCGGGCAAACCCC 0.634 NA 8 276 --- --- --- --- NA NA NA NA