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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut ASB17 127247 broad.mit.edu 37 1 76397748 76397748 + Missense_Mutation SNP A A T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr1:76397748A>T uc001dhe.1 - 1 369 c.229T>A c.(229-231)TCA>ACA p.S77T ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 77 intracellular signal transduction ovary(1) 1 CGGTATCCTGATTTTTCCACA 0.383 NA 27 71 0 0 0.003954 0 0 LYST 1130 broad.mit.edu 37 1 235950598 235950598 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr1:235950598G>A uc001hxj.2 - 14 4939 c.4764C>T c.(4762-4764)CTC>CTT p.L1588L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1588 WD 2. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATTTGCTTGGGAGGAAAATAT 0.423 NA Chediak-Higashsyndrome 45 148 0 0 0.013114 0 0 SFMBT2 57713 broad.mit.edu 37 10 7409719 7409719 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr10:7409719C>T uc009xio.1 - 4 419 c.328G>A c.(328-330)GGT>AGT p.G110S SFMBT2_uc001ijn.1_Missense_Mutation_p.G110S|SFMBT2_uc010qay.1_Missense_Mutation_p.G110S|SFMBT2_uc001ijo.1_Missense_Mutation_p.G110S NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 110 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TCCCCGTAACCGCAGTAGCGC 0.572 NA 4 25 0 0 0.009096 0 0 LOXL4 84171 broad.mit.edu 37 10 100011426 100011426 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr10:100011426C>G uc001kpa.1 - 13 2136 c.1985G>C c.(1984-1986)GGA>GCA p.G662A NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 662 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) TCCCTGTTCTCCAAAGTTGGC 0.527 NA 3 56 0 0 0.004672 0 0 DCDC1 341019 broad.mit.edu 37 11 31312327 31312327 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:31312327C>T uc001msv.2 - 7 1029 c.827G>A c.(826-828)CGG>CAG p.R276Q DCDC1_uc001msu.1_Intron NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 276 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CTTGGTTTTCCGTCTTTTGAT 0.378 NA 9 73 0 0 0.006214 0 0 DAGLA 747 broad.mit.edu 37 11 61508792 61508792 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:61508792G>A uc001nsa.2 + 19 2253 c.2142G>A c.(2140-2142)CCG>CCA p.P714P NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 714 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) TGGAGCTGCCGACTGCAGACC 0.642 NA 9 30 0 0 0.008291 0 0 FKBP2 2286 broad.mit.edu 37 11 64011314 64011314 + Silent SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:64011314G>T uc001nyy.2 + 5 529 c.333G>T c.(331-333)GGG>GGT p.G111G FKBP2_uc010rnh.1_Silent_p.G111G|FKBP2_uc001nyz.2_Silent_p.G111G NM_004470 NP_004461 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa precursor 111 PPIase FKBP-type. protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding 0 CTTCAACAGGGTATGGAGAGC 0.562 NA 32 134 3.86903e-22 5.40436e-22 0.013726 1 0 NRXN2 9379 broad.mit.edu 37 11 64434911 64434911 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:64434911G>A uc001oar.2 - 10 2048 c.1609C>T c.(1609-1611)CGG>TGG p.R537W NRXN2_uc001oas.2_Missense_Mutation_p.R506W|NRXN2_uc001oaq.2_Missense_Mutation_p.R204W NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor 128 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCCCCAGCCCGCCGGCCCTGG 0.657 NA 11 69 0 0 0.010729 0 0 BBS10 79738 broad.mit.edu 37 12 76740459 76740459 + Missense_Mutation SNP T T C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr12:76740459T>C uc001syd.1 - 2 1390 c.1306A>G c.(1306-1308)ACC>GCC p.T436A NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 436 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 TGGTCATTGGTTTGTGTCATG 0.368 NA Bardet-Biedl_syndrome 3 166 0 0 0.004672 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981770 92981770 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr15:92981770G>A uc002bra.2 + 4 633 c.478G>A c.(478-480)GTG>ATG p.V160M ST8SIA2_uc002brb.2_Missense_Mutation_p.V139M NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 160 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TTGTGCCATCGTGGGCAACTC 0.582 NA 4 64 0 0 0.009096 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857312 9857312 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:9857312G>A uc002czo.3 - 13 4637 c.4089C>T c.(4087-4089)TCC>TCT p.S1363S GRIN2A_uc010uym.1_Silent_p.S1363S|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1363 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGGGTTATCGGAGGTGTGGT 0.557 NA 19 81 0 0 0.007413 0 0 TEKT5 146279 broad.mit.edu 37 16 10788536 10788536 + Silent SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:10788536C>A uc002czz.1 - 1 267 c.195G>T c.(193-195)CCG>CCT p.P65P NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 65 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 TGCTCTCGTCCGGGCAGGTCT 0.612 NA 21 91 1.96895e-08 2.62526e-08 0.00278 1 0 SALL1 6299 broad.mit.edu 37 16 51171227 51171227 + Silent SNP G G A rs145423593 TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:51171227G>A uc010vgs.1 - 3 3802 c.3771C>T c.(3769-3771)AAC>AAT p.N1257N SALL1_uc010vgr.1_Silent_p.N1160N|SALL1_uc010cbv.2_Silent_p.N109N NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1257 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGATGCCACCGTTCTGAATGA 0.577 GBM(103;1352 1446 1855 4775 8890) NA 6 87 0 0 0.00308 0 0 SALL1 6299 broad.mit.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:51173150G>A uc010vgs.1 - 2 3014 c.2983C>T c.(2983-2985)CGG>TGG p.R995W SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 995 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AATTTACCCCGGTCTCTAAAA 0.433 GBM(103;1352 1446 1855 4775 8890) NA 6 85 0 0 0.001168 0 0 ESRP2 80004 broad.mit.edu 37 16 68266596 68266596 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:68266596G>A uc010cfa.1 - 7 923 c.735C>T c.(733-735)CCC>CCT p.P245P ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Intron NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 245 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 TGCTGCTGTAGGGGCAGGGCA 0.587 NA 24 113 0 0 0.00278 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486488 76486488 + Missense_Mutation SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:76486488C>A uc002feu.1 + 10 1540 c.1155C>A c.(1153-1155)GAC>GAA p.D385E CNTNAP4_uc002fev.1_Missense_Mutation_p.D249E|CNTNAP4_uc010chb.1_Missense_Mutation_p.D312E|CNTNAP4_uc002fex.1_Missense_Mutation_p.D388E|CNTNAP4_uc002few.2_Missense_Mutation_p.D360E NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 385 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CACTGCCAGACTTCTCTGGAG 0.438 NA 11 155 3.86212e-05 4.65571e-05 0.008291 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77398246 77398246 + Missense_Mutation SNP G G C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:77398246G>C uc002ffc.3 - 5 1230 c.811C>G c.(811-813)CTA>GTA p.L271V ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 271 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCAAACCTTAGATAGGTGTCC 0.468 NA 4 78 0 0 0.009096 0 0 OR1E1 8387 broad.mit.edu 37 17 3301440 3301440 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr17:3301440C>T uc002fvj.1 - 1 265 c.265G>A c.(265-267)GAC>AAC p.D89N NM_003553 NP_003544 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGGATGGGTCCTGGTTCTGC 0.507 NA 7 46 0 0 0.00308 0 0 DYNLL2 140735 broad.mit.edu 37 17 56166633 56166633 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr17:56166633C>T uc010wnn.1 + 3 537 c.263C>T c.(262-264)TCA>TTA p.S88L NM_080677 NP_542408 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 88 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity 0 CTCTTCAAGTCAGGCTAGGTG 0.532 NA 6 68 0 0 0.001168 0 0 SDK2 54549 broad.mit.edu 37 17 71346817 71346817 + Missense_Mutation SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr17:71346817G>T uc010dfm.2 - 42 5871 c.5871C>A c.(5869-5871)AGC>AGA p.S1957R SDK2_uc002jjt.3_Missense_Mutation_p.S1097R NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1957 Cytoplasmic (Potential). cell adhesion integral to membrane ovary(2) 2 CGTACTTCTTGCTCTGGCCCC 0.547 NA 11 48 2.80697e-09 3.80021e-09 0.010729 1 0 MAP2K7 5609 broad.mit.edu 37 19 7975197 7975197 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:7975197G>A uc002mit.2 + 4 451 c.386G>A c.(385-387)GGC>GAC p.G129D MAP2K7_uc002miv.2_Missense_Mutation_p.G129D|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G129D|MAP2K7_uc010dvv.2_Missense_Mutation_p.G4D NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 129 Protein kinase.|ATP (By similarity). activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) ATGGGCAGCGGCACCTGCGGC 0.672 NA 3 18 0 0 0.009096 0 0 EPS15L1 58513 broad.mit.edu 37 19 16548580 16548580 + Splice_Site SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:16548580C>T uc002ndz.1 - 5 315 c.309_splice c.e5+1 p.F103_splice EPS15L1_uc002ndx.2_Splice_Site_p.F103_splice|EPS15L1_uc002ndy.2_Splice_Site|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc010xpf.1_Splice_Site_p.F6_splice|EPS15L1_uc002nea.1_Splice_Site_p.F103_splice|EPS15L1_uc010eah.1_Splice_Site_p.F103_splice|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Splice_Site_p.F103_splice NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 TGGACACTCACAAATTTAGGC 0.358 NA 13 57 0 0 0.003163 0 0 GPATCH1 55094 broad.mit.edu 37 19 33584407 33584407 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:33584407A>G uc002nug.1 + 4 751 c.437A>G c.(436-438)GAC>GGC p.D146G NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 146 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) CTCCTTGATGACCTCATAACG 0.478 Pancreas(67;88 1713 4567 18227) NA 3 166 0 0 0.009096 0 0 HRC 3270 broad.mit.edu 37 19 49657720 49657720 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:49657720C>G uc002pmv.2 - 1 962 c.775G>C c.(775-777)GAT>CAT p.D259H NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 259 4 X tandem repeats, acidic.|Asp-rich (acidic).|1-2.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) Acatcatcatcatcatcatca 0.388 Melanoma(37;75 1097 24567 25669 30645) NA 4 34 0 0 0.009096 0 0 GRHL1 29841 broad.mit.edu 37 2 10130834 10130834 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:10130834G>A uc002raa.2 + 10 1451 c.1280G>A c.(1279-1281)CGG>CAG p.R427Q GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.R238Q|GRHL1_uc010yjb.1_Missense_Mutation_p.R276Q NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 427 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) GGAGCTGAGCGGAAAATCAGG 0.423 NA 6 18 0 0 0.001168 0 0 NT5C1B 93034 broad.mit.edu 37 2 18766072 18766072 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:18766072C>T uc002rcz.2 - 5 715 c.611G>A c.(610-612)CGG>CAG p.R204Q NT5C1B_uc002rcy.2_Missense_Mutation_p.R204Q|NT5C1B_uc010exr.2_Missense_Mutation_p.R146Q|NT5C1B_uc010yju.1_Missense_Mutation_p.R144Q|NT5C1B_uc002rda.2_Missense_Mutation_p.R144Q|NT5C1B_uc010yjv.1_Missense_Mutation_p.R221Q|NT5C1B_uc010yjw.1_Missense_Mutation_p.R187Q|NT5C1B_uc010exs.2_Missense_Mutation_p.R206Q|NT5C1B_uc002rdb.1_5'UTR NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 204 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGTGCTGCGCCGGGAGCCAGG 0.711 NA 8 27 0 0 0.004482 0 0 CEBPZ 10153 broad.mit.edu 37 2 37454813 37454813 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:37454813A>G uc002rpz.2 - 2 1553 c.1523T>C c.(1522-1524)ATT>ACT p.I508T NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 508 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) CAGTGTGTCAATCTGCTCCCT 0.378 NA 15 57 0 0 0.00245 0 0 CCT7 10574 broad.mit.edu 37 2 73467659 73467659 + Silent SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:73467659C>A uc002siz.2 + 3 357 c.255C>A c.(253-255)TCC>TCA p.S85S CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Silent_p.S41S|CCT7_uc010feu.2_Silent_p.S85S|CCT7_uc010yrg.1_Intron|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 85 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 TTGCCAAATCCCAAGATGCTG 0.368 NA 6 48 3.59834e-05 4.39797e-05 0.001168 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460326 107460326 + Silent SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:107460326A>G uc002tdq.2 - 2 227 c.108T>C c.(106-108)GCT>GCC p.A36A ST6GAL2_uc002tdr.2_Silent_p.A36A|ST6GAL2_uc002tds.3_Silent_p.A36A NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 36 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.A36T(1) pancreas(6)|ovary(4)|skin(1) 11 GTACAGGCTCAGCGGGGTTGC 0.582 NA 4 65 0 0 0.000602 0 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 NA 3 26 0 0 0.004672 0 0 SCN7A 6332 broad.mit.edu 37 2 167327178 167327178 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:167327178G>A uc002udu.1 - 6 738 c.611C>T c.(610-612)ACG>ATG p.T204M SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 204 Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AGTTTGAAGCGTTGGAATGAA 0.299 NA 6 34 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179584290 179584290 + Missense_Mutation SNP G G C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:179584290G>C uc010zfg.1 - 79 20421 c.20197C>G c.(20197-20199)CAT>GAT p.H6733D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H3394D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7660 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGAAACATGGACGGATACA 0.398 NA 28 254 0 0 0.007291 0 0 MYEOV2 150678 broad.mit.edu 37 2 241073371 241073371 + Missense_Mutation SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:241073371C>A uc010zof.1 - 2 161 c.115G>T c.(115-117)GTT>TTT p.V39F MYEOV2_uc002vyu.1_Missense_Mutation_p.V70F NM_001163424 NP_001156896 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 2 39 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TCTGCATGAACGGCCTTTTCA 0.483 NA 41 103 6.48837e-15 8.9215e-15 0.010771 1 0 BRD1 23774 broad.mit.edu 37 22 50216780 50216780 + Silent SNP T T G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr22:50216780T>G uc003biv.2 - 1 1673 c.1186A>C c.(1186-1188)AGG>CGG p.R396R BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.R396R|BRD1_uc011arh.1_Silent_p.R396R|BRD1_uc003biu.3_Silent_p.R396R NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 396 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCAGAGGCCTCCGGGTGCAG 0.532 NA 5 209 0 0 0.001168 0 0 SPATA16 83893 broad.mit.edu 37 3 172835183 172835183 + Silent SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr3:172835183A>G uc003fin.3 - 2 497 c.339T>C c.(337-339)CCT>CCC p.P113P NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 113 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AGGGGATGTGAGGCAGAGGCA 0.413 NA 3 131 0 0 0.004672 0 0 FRAS1 80144 broad.mit.edu 37 4 79410160 79410160 + Missense_Mutation SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr4:79410160G>T uc003hlb.2 + 59 9324 c.8884G>T c.(8884-8886)GCT>TCT p.A2962S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2957 Calx-beta 4.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GAGCCATTCCGCTCAGGTCAT 0.502 NA 10 50 7.48243e-07 9.68314e-07 0.006214 1 0 ANK2 287 broad.mit.edu 37 4 114170985 114170985 + Missense_Mutation SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr4:114170985G>T uc003ibe.3 + 10 1057 c.957G>T c.(955-957)TTG>TTT p.L319F ANK2_uc003ibd.3_Missense_Mutation_p.L298F|ANK2_uc003ibf.3_Missense_Mutation_p.L319F|ANK2_uc003ibc.2_Missense_Mutation_p.L295F|ANK2_uc011cgb.1_Missense_Mutation_p.L334F NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 319 ANK 9. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AACTTCTGTTGGAACGGGGTG 0.453 NA 17 57 1.15919e-05 1.43674e-05 0.008871 1 0 NPY1R 4886 broad.mit.edu 37 4 164247318 164247318 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr4:164247318G>A uc003iqm.1 - 2 655 c.389C>T c.(388-390)TCT>TTT p.S130F NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 130 Helical; Name=3; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGAACCAGAGAGAAAATGGA 0.423 NA 13 61 0 0 0.003163 0 0 ADCY2 108 broad.mit.edu 37 5 7706887 7706887 + Silent SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:7706887C>T uc003jdz.1 + 8 1207 c.1140C>T c.(1138-1140)ATC>ATT p.I380I ADCY2_uc011cmo.1_Silent_p.I200I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 380 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GAGTTGATATCAACATGCGCG 0.463 NA 16 242 0 0 0.00499 0 0 BASP1 10409 broad.mit.edu 37 5 17275411 17275411 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:17275411C>T uc003jfx.2 + 2 265 c.86C>T c.(85-87)GCG>GTG p.A29V NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 29 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 GCCGAGGGCGCGGCGACGGAA 0.627 NA 4 58 0 0 0.009096 0 0 CDH10 1008 broad.mit.edu 37 5 24537504 24537504 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:24537504C>T uc003jgr.1 - 3 843 c.511G>A c.(511-513)GAA>AAA p.E171K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 171 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACAGACATTTCGGGAACACTA 0.333 NA HNSCC(23;0.051) 17 198 0 0 0.00499 0 0 ADAM19 8728 broad.mit.edu 37 5 156915310 156915310 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:156915310C>T uc003lwz.2 - 21 2577 c.2513G>A c.(2512-2514)CGG>CAG p.R838Q ADAM19_uc003lww.1_Missense_Mutation_p.R571Q|ADAM19_uc003lwy.2_Missense_Mutation_p.R437Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R769Q NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 838 Cytoplasmic (Potential).|SH3-binding (Potential).|SH3-binding (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGAATTGGCCGGCTTGGAGG 0.572 NA 17 145 0 0 0.006122 0 0 RARS 5917 broad.mit.edu 37 5 167922429 167922429 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:167922429A>G uc003lzx.2 + 6 730 c.689A>G c.(688-690)TAT>TGT p.Y230C RARS_uc011deo.1_Missense_Mutation_p.Y24C NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 230 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TTTGCAGGGTATGACGTGCTC 0.408 NA 7 168 0 0 0.001984 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679385 160679385 + Silent SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr6:160679385G>T uc003qtf.2 - 1 575 c.405C>A c.(403-405)ATC>ATA p.I135I SLC22A2_uc003qte.1_Silent_p.I135I|SLC22A2_uc003qth.1_Silent_p.I135I NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 135 Extracellular (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CCTCGGTGACGATGGACGAGC 0.617 NA 7 76 2.7689e-08 3.63676e-08 0.001984 1 0 AKAP9 10142 broad.mit.edu 37 7 91645514 91645514 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:91645514G>A uc003ulg.2 + 11 3909 c.3684G>A c.(3682-3684)GAG>GAA p.E1228E AKAP9_uc003ule.2_Silent_p.E1240E|AKAP9_uc003ulf.2_Silent_p.E1228E|AKAP9_uc003uli.2_Silent_p.E853E NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1240 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGACAAAGAGAATTCTGGTG 0.294 NA T BRAF papillary thyroid 6 51 0 0 0.001168 0 0 ACHE 43 broad.mit.edu 37 7 100491461 100491461 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:100491461G>A uc003uxd.2 - 1 549 c.393C>T c.(391-393)AAC>AAT p.N131N ACHE_uc003uxe.2_Silent_p.N131N|ACHE_uc003uxf.2_Silent_p.N131N|ACHE_uc003uxg.2_Silent_p.N131N|ACHE_uc003uxh.2_Silent_p.N131N|ACHE_uc003uxi.2_Silent_p.N131N|ACHE_uc003uxj.1_Silent_p.N250N NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 131 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) GTGTCCACACGTTGAGGTACA 0.592 NA 5 140 0 0 0.001168 0 0 CHRM2 1129 broad.mit.edu 37 7 136700046 136700046 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:136700046C>T uc003vtf.1 + 4 1057 c.434C>T c.(433-435)GCA>GTA p.A145V CHRM2_uc003vtg.1_Missense_Mutation_p.A145V|CHRM2_uc003vtj.1_Missense_Mutation_p.A145V|CHRM2_uc003vtk.1_Missense_Mutation_p.A145V|CHRM2_uc003vtl.1_Missense_Mutation_p.A145V|CHRM2_uc003vtm.1_Missense_Mutation_p.A145V|CHRM2_uc003vti.1_Missense_Mutation_p.A145V|CHRM2_uc003vto.1_Missense_Mutation_p.A145V|CHRM2_uc003vtn.1_Missense_Mutation_p.A145V|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 145 Helical; Name=4; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATGATGATTGCAGCTGCCTGG 0.498 NA 5 173 0 0 0.001168 0 0 KCNV2 169522 broad.mit.edu 37 9 2719006 2719006 + Missense_Mutation SNP T T G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:2719006T>G uc003zho.1 + 1 1481 c.1267T>G c.(1267-1269)TTC>GTC p.F423V NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 423 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) CATGGGCATCTTCACTTTCTC 0.632 NA 5 35 0 0 0.000602 0 0 CORO2A 7464 broad.mit.edu 37 9 100893269 100893269 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:100893269C>G uc004ayl.2 - 7 1104 c.838G>C c.(838-840)GCG>CCG p.A280P CORO2A_uc004aym.2_Missense_Mutation_p.A280P NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 280 WD 5. actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) CTGGTGTCCGCGTCATAGAAG 0.652 NA 3 26 0 0 0.009096 0 0 ROD1 9991 broad.mit.edu 37 9 115092722 115092722 + Missense_Mutation SNP T T A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:115092722T>A uc004bfw.2 - 2 228 c.41A>T c.(40-42)AAG>ATG p.K14M ROD1_uc004bfv.2_Intron|ROD1_uc004bfx.2_Missense_Mutation_p.K14M|ROD1_uc011lwu.1_Intron|ROD1_uc004bfy.2_Intron|ROD1_uc004bfz.2_Intron NM_005156 NP_005147 O95758 ROD1_HUMAN ROD1 regulator of differentiation 1 isoform 1 14 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding skin(1) 1 GATTCCTACCTTTAAACCGAC 0.289 NA 13 62 0 0 0.00499 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123298731 123298731 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:123298731C>T uc004bkf.2 - 7 762 c.581G>A c.(580-582)CGT>CAT p.R194H CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R194H|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R194H|CDK5RAP2_uc004bki.2_5'UTR NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 194 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 GCTTTCCAAACGCAACCGAAG 0.517 NA 8 65 0 0 0.00308 0 0 SSNA1 8636 broad.mit.edu 37 9 140083651 140083651 + Silent SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:140083651A>G uc004cls.2 + 2 311 c.186A>G c.(184-186)GCA>GCG p.A62A ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank NM_003731 NP_003722 O43805 SSNA1_HUMAN nuclear autoantigen of 14 kDa 62 Potential. G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus breast(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) AGAACCTGGCACGCAAGATTG 0.647 NA 5 24 0 0 0.001168 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20195194 20195194 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:20195194A>G uc004czu.2 - 11 854 c.854T>C c.(853-855)CTT>CCT p.L285P RPS6KA3_uc011mjk.1_Missense_Mutation_p.L256P|RPS6KA3_uc004czv.2_Missense_Mutation_p.L273P|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L257P|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L257P NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 285 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 TGGCATTCCAAGTTTGGCTCT 0.254 NA 45 154 0 0 0.01441 0 0 MED14 9282 broad.mit.edu 37 X 40569230 40569230 + Splice_Site SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:40569230C>A uc004dex.3 - 9 1313 c.1173_splice c.e9+1 p.K391_splice MED14_uc010nhe.1_Splice_Site_p.K275_splice NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 AGATCTTTTACCTTCATGGCT 0.303 NA 13 33 0.000151284 0.000179906 0.001855 1 0 FAM120C 54954 broad.mit.edu 37 X 54209079 54209079 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:54209079G>A uc004dsz.3 - 1 636 c.553C>T c.(553-555)CGT>TGT p.R185C FAM120C_uc011moh.1_Missense_Mutation_p.R185C|FAM120C_uc004dta.2_Missense_Mutation_p.R185C NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 185 ovary(1)|central_nervous_system(1) 2 TGGCACCGACGGCCCCACTCG 0.716 NA 4 38 0 0 0.009096 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298988 125298988 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:125298988C>T uc004euk.1 - 1 947 c.920G>A c.(919-921)CGA>CAA p.R307Q NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 307 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CACATTCTCTCGGCAGTAGGG 0.607 NA 23 245 0 0 0.003954 0 0 F9 2158 broad.mit.edu 37 X 138630531 138630531 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:138630531G>A uc004fas.1 + 5 430 c.401G>A c.(400-402)TGT>TAT p.C134Y F9_uc004fat.1_Missense_Mutation_p.C96Y NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 134 EGF-like 2. C -> Y (in HEMB). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GATGTAACATGTAACATTAAG 0.363 NA 9 234 0 0 0.006214 0 0 GLIPR1 11010 broad.mit.edu 37 12 75884200 75884201 + Frame_Shift_Ins INS - - A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr12:75884200_75884201insA uc001sxs.2 + 3 583_584 c.435_436insA c.(433-438)GATAGTfs p.D145fs GLIPR1_uc009zsb.1_Frame_Shift_Ins_p.I169fs NM_006851 NP_006842 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 precursor 145_146 cellular lipid metabolic process extracellular region|integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 TTTGGGCAGATAGTTACAAAGT 0.386 NA 14 104 --- --- --- --- NA NA NA NA NA UBA3 9039 broad.mit.edu 37 3 69129290 69129292 + In_Frame_Del DEL CTT CTT - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr3:69129290_69129292delCTT uc003dno.2 - 2 53_55 c.33_35delAAG c.(31-36)AGAAGG>AGG p.11_12RR>R UBA3_uc003dnq.2_Intron|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 11_12 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CTCTATTCTCCTTCTTTTCTTCT 0.665 NA 18 57 --- --- --- --- NA NA NA NA NA ZNF318 24149 broad.mit.edu 37 6 43305942 43305954 + Frame_Shift_Del DEL TTCTAGAAGCTGA TTCTAGAAGCTGA - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 TTCTAGAAGCTGA TTCTAGAAGCTGA - - TTCTAGAAGCTGA TTCTAGAAGCTGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr6:43305942_43305954delTTCTAGAAGCTGA uc003oux.2 - 10 5860_5872 c.5782_5794delTCAGCTTCTAGAA c.(5782-5796)TCAGCTTCTAGAACTfs p.S1928fs ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1928_1932 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TACCTAGAAGTTCTAGAAGCTGATTCTGGAGCT 0.413 NA 27 138 --- --- --- --- NA NA NA NA NA CTAGE6 340307 broad.mit.edu 37 7 143453350 143453353 + Frame_Shift_Del DEL CCAA CCAA - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 CCAA CCAA - - CCAA CCAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:143453350_143453353delCCAA uc003wdk.3 - 1 1491_1494 c.1399_1402delTTGG c.(1399-1404)TTGGCAfs p.L467fs uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron NM_178561 NP_848656 Q86UF2 CTGE6_HUMAN CTAGE family, member 6 467_468 Potential. integral to membrane 0 Melanoma(164;0.0903) GTCCGAGCTGCCAACCAATTATCA 0.348 NA 13 172 --- --- --- --- NA NA NA NA NA