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 NBPF1 55672 broad.mit.edu 37 1 16902841 16902841 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:16902841C>A uc009vos.1 - 19 2928 c.2040G>T c.(2038-2040)AAG>AAT p.K680N NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.K138N|NBPF1_uc010oce.1_Missense_Mutation_p.K409N NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 680 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GCCCCTGGGACTTGTCTGGCT 0.582 NA 18 653 3.01e-09 3.34e-09 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 4 30 0 0 0 0 IGSF21 84966 broad.mit.edu 37 1 18691843 18691843 + Missense_Mutation SNP A A C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:18691843A>C uc001bau.1 + 6 1050 c.667A>C c.(667-669)ACC>CCC p.T223P IGSF21_uc001bav.1_Missense_Mutation_p.T44P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 223 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCTGGATGACACCAAGATGCA 0.652 NA 16 47 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34204867 34204867 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:34204867G>C uc001bxn.1 - 15 2151 c.2122C>G c.(2122-2124)CAG>GAG p.Q708E CSMD2_uc001bxm.1_Missense_Mutation_p.Q748E NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 708 Sushi 4.|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) CTGCCCAGCTGGAGGCTGTCC 0.572 NA 32 101 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39833905 39833905 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:39833905C>T uc010oiu.1 + 14 8308 c.8177C>T c.(8176-8178)GCG>GTG p.A2726V MACF1_uc010ois.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdc.1_Missense_Mutation_p.A1311V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4291 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGTGGCTTTGCGCTGGACTTG 0.453 NA 31 48 0 0 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515807 47515807 + Missense_Mutation SNP T T G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:47515807T>G uc001cqt.2 + 12 1741 c.1491T>G c.(1489-1491)AAT>AAG p.N497K CYP4X1_uc001cqr.2_Missense_Mutation_p.N496K|CYP4X1_uc001cqs.2_Missense_Mutation_p.N432K NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 497 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 AGCCCAAGAATGGGATGTATT 0.408 NA 19 116 0 0 0 0 ALG6 29929 broad.mit.edu 37 1 63879791 63879791 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:63879791G>T uc010oow.1 + 10 1181 c.876G>T c.(874-876)TTG>TTT p.L292F ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.L91F NM_013339 NP_037471 Q9Y672 ALG6_HUMAN dolichyl pyrophosphate Man9GlcNAc2 292 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity 0 AGGATATTTTGCCACGTCACA 0.274 NA 19 45 3.62e-10 4.12e-10 1 0 LPPR4 9890 broad.mit.edu 37 1 99772407 99772407 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:99772407C>T uc001dse.2 + 7 2239 c.2133C>T c.(2131-2133)AGC>AGT p.S711S LPPR4_uc010oue.1_Silent_p.S653S NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 711 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TAGAGGGCAGCGAAATTGGCT 0.522 NA 6 28 0 0 0 0 OLFM3 118427 broad.mit.edu 37 1 102269859 102269859 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:102269859T>C uc001duf.2 - 6 1443 c.1372A>G c.(1372-1374)AAT>GAT p.N458D OLFM3_uc001dug.2_Missense_Mutation_p.N438D|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.N363D|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 458 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGGTGGCCATTGTTCCAGGCA 0.418 NA 54 34 0 0 0 0 TRIM33 51592 broad.mit.edu 37 1 114964164 114964164 + Missense_Mutation SNP T T A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:114964164T>A uc001eew.2 - 11 2039 c.1955A>T c.(1954-1956)AAT>ATT p.N652I TRIM33_uc010owr.1_Missense_Mutation_p.N242I|TRIM33_uc010ows.1_Missense_Mutation_p.N260I|TRIM33_uc001eex.2_Missense_Mutation_p.N652I NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 652 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCGGTTTGCATTTGCCATAGT 0.502 NA T RET papillary thyroid 30 45 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283935 152283935 + Nonsense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:152283935C>A uc001ezu.1 - 3 3463 c.3427G>T c.(3427-3429)GGA>TGA p.G1143* uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1143 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity 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) TGGTGGGATCCTTGTCTTCGT 0.592 NA Ichthyosis 12 285 1.05e-09 1.18e-09 1 0 ADAR 103 broad.mit.edu 37 1 154562371 154562371 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:154562371T>C uc001ffh.2 - 8 2730 c.2530A>G c.(2530-2532)ATA>GTA p.I844V ADAR_uc001ffj.2_Missense_Mutation_p.I799V|ADAR_uc001ffi.2_Missense_Mutation_p.I818V|ADAR_uc001ffk.2_Missense_Mutation_p.I549V NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 844 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) AGCATGGCTATCTGGTCATGG 0.552 NA 22 16 0 0 0 0 SEC16B 89866 broad.mit.edu 37 1 177909817 177909817 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:177909817C>T uc001gli.1 - 17 2145 c.2055G>A c.(2053-2055)CTG>CTA p.L685L SEC16B_uc001glk.1_Silent_p.L362L|SEC16B_uc009wwy.1_Silent_p.L240L|SEC16B_uc001glh.1_Silent_p.L344L|SEC16B_uc009wwz.1_Silent_p.L344L|SEC16B_uc001glj.1_Silent_p.L686L NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 685 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 TTTCTAAAACCAGAGGATCTG 0.463 NA 7 26 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196684815 196684815 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:196684815G>T uc001gtj.3 + 11 1852 c.1612G>T c.(1612-1614)GAT>TAT p.D538Y NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 538 Sushi 9. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGAATGCCATGATGGTTATGA 0.289 NA 27 112 3.65e-15 4.28e-15 1 0 ASPM 259266 broad.mit.edu 37 1 197111716 197111716 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:197111716T>C uc001gtu.2 - 3 1923 c.1666A>G c.(1666-1668)AAG>GAG p.K556E ASPM_uc001gtv.2_Missense_Mutation_p.K556E|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 556 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTATAACTCTTAGATTTACTT 0.353 NA 42 54 0 0 0 0 CNTN2 6900 broad.mit.edu 37 1 205038984 205038984 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:205038984C>T uc001hbr.2 + 18 2495 c.2226C>T c.(2224-2226)GAC>GAT p.D742D CNTN2_uc001hbq.1_Silent_p.D633D|CNTN2_uc001hbs.2_Silent_p.D530D NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 742 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGAACGGAGACGGCTTCGGCT 0.667 NA 85 143 0 0 0 0 PFKFB2 5208 broad.mit.edu 37 1 207242833 207242833 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:207242833G>A uc001hfg.2 + 11 1161 c.1052G>A c.(1051-1053)CGA>CAA p.R351Q PFKFB2_uc010psc.1_Missense_Mutation_p.R253Q|PFKFB2_uc001hfh.2_Missense_Mutation_p.R351Q|PFKFB2_uc009xcc.2_Missense_Mutation_p.R309Q|PFKFB2_uc010psd.1_Missense_Mutation_p.R165Q NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 351 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) TTTGCACTTCGAGATCAAGAG 0.458 NA 14 67 0 0 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414710 213414710 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:213414710C>G uc010ptr.1 + 11 2050 c.1891C>G c.(1891-1893)CCA>GCA p.P631A RPS6KC1_uc001hkd.2_Missense_Mutation_p.P619A|RPS6KC1_uc010pts.1_Missense_Mutation_p.P419A|RPS6KC1_uc010ptt.1_Missense_Mutation_p.P419A|RPS6KC1_uc010ptu.1_Missense_Mutation_p.P450A|RPS6KC1_uc010ptv.1_Missense_Mutation_p.P166A|RPS6KC1_uc001hke.2_Missense_Mutation_p.P450A NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 631 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACCTTTGAAACCATTCTTTAC 0.403 NA 25 43 0 0 0 0 ZNF238 10472 broad.mit.edu 37 1 244217113 244217113 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:244217113C>G uc001iae.2 + 1 532 c.10C>G c.(10-12)CCA>GCA p.P4A ZNF238_uc001iad.3_Missense_Mutation_p.P13A|ZNF238_uc001iaf.1_Missense_Mutation_p.P4A NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 4 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) TATGGAGTTTCCAGACCATAG 0.473 NA 3 44 0 0 0 0 OR11L1 391189 broad.mit.edu 37 1 248004560 248004560 + Silent SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:248004560C>A uc001idn.1 - 1 639 c.639G>T c.(637-639)CTG>CTT p.L213L NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCCCAGTGTCAGAAAAAAAC 0.507 NA 28 39 1.16e-09 1.3e-09 1 0 OR2T8 343172 broad.mit.edu 37 1 248084827 248084827 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:248084827C>A uc010pzc.1 + 1 508 c.508C>A c.(508-510)CAC>AAC p.H170N NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTGCGGTGCACACGAGATCGA 0.567 NA 3 24 3.07e-06 3.31e-06 1 0 OR2T33 391195 broad.mit.edu 37 1 248436609 248436609 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr1:248436609G>T uc010pzi.1 - 1 508 c.508C>A c.(508-510)CAC>AAC p.H170N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCGATCTCGTGTGCACCACAA 0.557 NA 4 44 4.69e-08 5.12e-08 1 0 ANKRD26 22852 broad.mit.edu 37 10 27352931 27352931 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr10:27352931T>C uc001ith.2 - 12 1521 c.1349A>G c.(1348-1350)AAT>AGT p.N450S ANKRD26_uc001itg.2_Missense_Mutation_p.N169S|ANKRD26_uc009xku.1_Missense_Mutation_p.N450S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 450 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGCTTGTTCATTTCCTATATT 0.323 NA 21 15 0 0 0 0 HNRNPF 3185 broad.mit.edu 37 10 43882508 43882508 + Silent SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr10:43882508T>C uc009xmh.1 - 3 1312 c.825A>G c.(823-825)AGA>AGG p.R275R HNRNPF_uc001jar.2_Silent_p.R275R|HNRNPF_uc001jas.2_Silent_p.R275R|HNRNPF_uc001jat.2_Silent_p.R275R|HNRNPF_uc001jav.2_Silent_p.R275R|HNRNPF_uc001jau.2_Silent_p.R275R|uc010qfa.1_Missense_Mutation_p.S64P NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 275 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 TGTCGCCGTATCTGTGGTCAT 0.557 NA 19 16 0 0 0 0 WDR11 55717 broad.mit.edu 37 10 122612036 122612036 + Nonsense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr10:122612036G>A uc010qtf.1 + 2 325 c.87G>A c.(85-87)TGG>TGA p.W29* uc001lfb.1_5'Flank|WDR11_uc010qte.1_Nonsense_Mutation_p.W29*|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 29 integral to membrane 0 GTTTTGCTAGGGGCTGGCAAG 0.363 NA 13 14 0 0 0 0 MUC6 4588 broad.mit.edu 37 11 1016020 1016020 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr11:1016020C>T uc001lsw.2 - 31 6832 c.6781G>A c.(6781-6783)GCC>ACC p.A2261T NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2261 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGGCAGGGGCGGTGTGGGTG 0.627 NA 37 162 0 0 0 0 OR5B17 219965 broad.mit.edu 37 11 58125655 58125655 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr11:58125655C>A uc010rke.1 - 1 888 c.888G>T c.(886-888)AAG>AAT p.K296N NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGAATGCATTCTTCACGTCTT 0.368 NA 19 105 1.34e-09 1.49e-09 1 0 DDB1 1642 broad.mit.edu 37 11 61070101 61070101 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr11:61070101G>A uc001nrc.3 - 24 3291 c.3065C>T c.(3064-3066)ACC>ATC p.T1022I DDB1_uc010rle.1_Missense_Mutation_p.T333I|DDB1_uc010rlf.1_Missense_Mutation_p.T1022I NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 1022 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TTGTGTGGGGGTGGAAGTCTC 0.582 NA NER 90 117 0 0 0 0 INTS5 80789 broad.mit.edu 37 11 62414590 62414590 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr11:62414590G>A uc001nud.2 - 2 3015 c.2962C>T c.(2962-2964)CTG>TTG p.L988L GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 988 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 ACACTGTGCAGCACAGCCAGA 0.602 NA 4 148 0 0 0 0 PRB1 5542 broad.mit.edu 37 12 11508453 11508453 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:11508453G>T uc001qzw.1 - 1 72 c.35C>A c.(34-36)GCC>GAC p.A12D PRB1_uc001qzu.1_Missense_Mutation_p.A12D|PRB1_uc001qzv.1_Missense_Mutation_p.A12D NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 12 extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGAGCTCAGGGCCAGCAAGGC 0.502 NA 6 45 5.18e-06 5.57e-06 1 0 GRIN2B 2904 broad.mit.edu 37 12 13717063 13717063 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:13717063C>T uc001rbt.2 - 13 3288 c.3109G>A c.(3109-3111)GAC>AAC p.D1037N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1037 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCGTACAGGTCACTGAGCTGG 0.582 NA 25 16 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:20523043G>A uc001reh.1 + 1 847 c.825G>A c.(823-825)CTG>CTA p.L275L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627 NA 16 60 0 0 0 0 GXYLT1 283464 broad.mit.edu 37 12 42512903 42512903 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:42512903C>G uc001rms.3 - 3 610 c.385G>C c.(385-387)GAA>CAA p.E129Q GXYLT1_uc001rmt.3_Missense_Mutation_p.E98Q NM_173601 NP_775872 Q4G148 GXLT1_HUMAN glycosyltransferase 8 domain containing 3 129 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 GTCATAGTTTCTTCCAGTCTT 0.378 NA 17 81 0 0 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42864075 42864075 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:42864075C>A uc010skv.1 - 3 506 c.219G>T c.(217-219)TTG>TTT p.L73F PRICKLE1_uc001rnl.2_Missense_Mutation_p.L73F|PRICKLE1_uc010skw.1_Missense_Mutation_p.L73F|PRICKLE1_uc001rnm.2_Missense_Mutation_p.L73F|PRICKLE1_uc009zka.2_Missense_Mutation_p.L69F NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 73 PET. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GTAACTGGTACAAAAGCTGTT 0.398 NA 9 47 0.000274275 0.000288358 1 0 TPH2 121278 broad.mit.edu 37 12 72416243 72416243 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:72416243C>A uc009zrw.1 + 9 1274 c.1133C>A c.(1132-1134)GCA>GAA p.A378E TPH2_uc001swy.2_Missense_Mutation_p.A288E NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 378 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GCATATGGAGCAGGACTCCTT 0.428 NA 16 55 1.34e-09 1.49e-09 1 0 PLXNC1 10154 broad.mit.edu 37 12 94634413 94634413 + Missense_Mutation SNP T T G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:94634413T>G uc001tdc.2 + 11 2522 c.2273T>G c.(2272-2274)CTT>CGT p.L758R NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 758 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CATTGTTCCCTTATATTTCCT 0.403 NA 4 163 0 0 0 0 SLC25A3 5250 broad.mit.edu 37 12 98987764 98987764 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:98987764C>G uc001tfo.2 + 2 128 c.8C>G c.(7-9)TCG>TGG p.S3W SLC25A3_uc001tfm.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfn.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfp.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Missense_Mutation_p.S3W|SLC25A3_uc001tft.2_Missense_Mutation_p.S3W NM_005888 NP_005879 Q00325 MPCP_HUMAN solute carrier family 25 member 3 isoform a 3 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity 0 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) AAGATGTTCTCGTCCGTGGCG 0.662 NA 11 29 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120139472 120139472 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:120139472C>T uc001txi.1 - 42 5426 c.5373G>A c.(5371-5373)GTG>GTA p.V1791V CIT_uc001txh.1_Silent_p.V1310V|CIT_uc001txj.1_Silent_p.V1833V NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1791 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGCGCTGTTCACCTGCACGA 0.562 NA 7 30 0 0 0 0 CLIP1 6249 broad.mit.edu 37 12 122862371 122862371 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:122862371G>C uc001ucg.1 - 2 328 c.222C>G c.(220-222)ATC>ATG p.I74M CLIP1_uc001uch.1_Missense_Mutation_p.I74M|CLIP1_uc001uci.1_Missense_Mutation_p.I74M|CLIP1_uc010tae.1_Missense_Mutation_p.I74M NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 74 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CAAGAAACTGGATAAATCCAG 0.483 NA 124 53 0 0 0 0 FAM101A 144347 broad.mit.edu 37 12 124799005 124799005 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:124799005C>T uc001ugd.1 + 3 585 c.342C>T c.(340-342)ACC>ACT p.T114T FAM101A_uc001uge.1_Silent_p.T114T NM_181709 NP_859060 Q6ZTI6 F101A_HUMAN hypothetical protein LOC144347 195 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) GCTGGTTCACCGCCAGCGTGC 0.711 NA 4 12 0 0 0 0 RHOJ 57381 broad.mit.edu 37 14 63671683 63671683 + Silent SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:63671683G>C uc001xgb.1 + 1 539 c.96G>C c.(94-96)GTG>GTC p.V32V NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 32 GTP (By similarity). actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) ACGGTGCCGTGGGGAAAACCT 0.547 NA 17 21 0 0 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208842 65208842 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:65208842C>T uc001xho.1 + 16 2876 c.2607C>T c.(2605-2607)TCC>TCT p.S869S PLEKHG3_uc001xhn.1_Silent_p.S813S|PLEKHG3_uc001xhp.2_Silent_p.S990S|PLEKHG3_uc010aqh.1_Silent_p.S411S|PLEKHG3_uc001xhq.1_Silent_p.S374S NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 869 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CGGAAAGCTCCTCTCCCACTG 0.652 NA 22 18 0 0 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256533 69256533 + Missense_Mutation SNP T T A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:69256533T>A uc001xkh.1 - 2 864 c.734A>T c.(733-735)GAT>GTT p.D245V ZFP36L1_uc001xki.1_Missense_Mutation_p.D245V NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 245 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATTGGTGCCATCGGGCAGGGT 0.592 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 111 0 0 0 0 ENTPD5 957 broad.mit.edu 37 14 74440651 74440651 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:74440651C>T uc010tuo.1 - 12 1126 c.815G>A c.(814-816)TGT>TAT p.C272Y ENTPD5_uc001xpi.2_Missense_Mutation_p.C272Y NM_001249 NP_001240 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 272 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00394) TCTCGGTAAACAGGCACTCCG 0.488 NA 15 52 0 0 0 0 TTLL5 23093 broad.mit.edu 37 14 76286467 76286467 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:76286467C>G uc001xrx.2 + 28 3494 c.3289C>G c.(3289-3291)CAA>GAA p.Q1097E TTLL5_uc010ask.1_Missense_Mutation_p.Q1112E|TTLL5_uc001xrz.2_Missense_Mutation_p.Q672E|TTLL5_uc001xsa.2_Missense_Mutation_p.Q171E NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1097 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GTCAGACCCCCAAGCTCCCGA 0.562 NA 14 36 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94158111 94158111 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:94158111T>C uc001ybv.1 + 45 7024 c.6941T>C c.(6940-6942)ATG>ACG p.M2314T KIAA1409_uc001ybs.1_Missense_Mutation_p.M2292T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2469 Helical; (Potential). integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GTGCTGCACATGTGCTCCCTC 0.532 NA 7 53 0 0 0 0 OCA2 4948 broad.mit.edu 37 15 28326955 28326955 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr15:28326955C>T uc001zbh.3 - 2 176 c.66G>A c.(64-66)ACG>ACA p.T22T OCA2_uc010ayv.2_Silent_p.T22T NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 22 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TGGGCACGGACGTCTGCAGGA 0.701 NA Oculocutaneous_Albinism 17 9 0 0 0 0 THBS1 7057 broad.mit.edu 37 15 39884807 39884807 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr15:39884807C>G uc001zkh.2 + 17 2750 c.2571C>G c.(2569-2571)GAC>GAG p.D857E THBS1_uc010bbi.2_Missense_Mutation_p.D329E NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 857 TSP type-3 6. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ATACCTGTGACAACAATCAGG 0.443 NA 4 5 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65491100 65491100 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr15:65491100G>A uc002aon.2 - 9 1705 c.1524C>T c.(1522-1524)GGC>GGT p.G508G NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 508 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TGTACACATGGCCAAAGCGCA 0.597 NA 4 37 0 0 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79092702 79092702 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr15:79092702G>A uc002bej.3 - 2 499 c.288C>T c.(286-288)ACC>ACT p.T96T ADAMTS7_uc010und.1_Silent_p.T96T|ADAMTS7_uc002bek.1_Silent_p.T96T NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 96 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GCTGATTGGCGGTCAGGTTGA 0.587 NA 4 6 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79294032 79294032 + Silent SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr15:79294032G>T uc002beq.2 - 17 2970 c.2595C>A c.(2593-2595)CCC>CCA p.P865P RASGRF1_uc002bep.2_Silent_p.P849P|RASGRF1_uc010blm.1_Silent_p.P774P|RASGRF1_uc002ber.3_Silent_p.P849P|RASGRF1_uc010unh.1_Silent_p.P260P|RASGRF1_uc002beo.2_Silent_p.P81P NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 867 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGACTGATTTGGGTGTTGTTG 0.408 NA 24 93 2.49e-11 2.85e-11 1 0 ZNF500 26048 broad.mit.edu 37 16 4815844 4815844 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr16:4815844G>C uc002cxp.1 - 2 383 c.136C>G c.(136-138)CCT>GCT p.P46A ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.P46A NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 46 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 AAAGTCTCAGGGCTGGGGTCC 0.642 NA 14 46 0 0 0 0 GPRC5B 51704 broad.mit.edu 37 16 19871833 19871833 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr16:19871833G>A uc002dgt.2 - 4 1309 c.1201C>T c.(1201-1203)CAC>TAC p.H401Y GPRC5B_uc010vav.1_Missense_Mutation_p.H427Y NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 401 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 CACCAAAGGTGTCTTCCTGTG 0.443 NA 15 33 0 0 0 0 VPS35 55737 broad.mit.edu 37 16 46716023 46716023 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr16:46716023G>A uc002eef.3 - 3 266 c.167C>T c.(166-168)TCT>TTT p.S56F VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S17F NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 56 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) TGATAACATAGAAGTCCGGAG 0.338 NA 18 35 0 0 0 0 GPR172B 55065 broad.mit.edu 37 17 4937602 4937602 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:4937602C>A uc002gap.3 - 3 895 c.182G>T c.(181-183)GGT>GTT p.G61V GPR172B_uc002gao.3_Missense_Mutation_p.G61V|GPR172B_uc010ckw.2_5'UTR|GPR172B_uc010ckx.2_Missense_Mutation_p.G61V NM_001104577 NP_001098047 Q9NWF4 RFT_HUMAN G protein-coupled receptor 172B precursor 61 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 CACCAGCAGACCCAGGTTTCC 0.627 NA 30 54 4.34e-12 5.02e-12 1 0 TP53 7157 broad.mit.edu 37 17 7579415 7579415 + Nonsense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:7579415C>T uc002gim.2 - 4 466 c.272G>A c.(271-273)TGG>TAG p.W91* TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 91 Interaction with WWOX. W -> C (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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) TGACAGGGGCCAGGAGGGGGC 0.632 111 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) 81 17 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11660996 11660996 + Missense_Mutation SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:11660996A>G uc002gne.2 + 35 7050 c.6982A>G c.(6982-6984)ACA>GCA p.T2328A DNAH9_uc010coo.2_Missense_Mutation_p.T1622A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2328 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCCTAGACACACTCAGAAC 0.468 NA 20 15 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162894 29162894 + Silent SNP A A C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:29162894A>C uc002hfs.1 + 2 2141 c.1795A>C c.(1795-1797)AGA>CGA p.R599R ATAD5_uc002hft.1_Silent_p.R496R NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 599 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AAGATCTGGAAGAATTAGCAG 0.398 NA 24 87 0 0 0 0 STAC2 342667 broad.mit.edu 37 17 37369370 37369370 + Silent SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:37369370G>T uc002hrs.2 - 10 1228 c.1009C>A c.(1009-1011)CGG>AGG p.R337R STAC2_uc010cvt.2_Silent_p.R195R NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 337 SH3. intracellular signal transduction metal ion binding pancreas(1) 1 AAGCCAACCCGGTCGCCGATC 0.607 NA 28 32 1.77e-15 2.09e-15 1 0 WNT3 7473 broad.mit.edu 37 17 44845973 44845973 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:44845973C>G uc002ikv.2 - 4 900 c.781G>C c.(781-783)GCC>CCC p.A261P NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 261 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) GAGTACTTGGCCCGGAGGGTC 0.592 NA 51 60 0 0 0 0 COL1A1 1277 broad.mit.edu 37 17 48273527 48273527 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:48273527C>T uc002iqm.2 - 15 1117 c.991G>A c.(991-993)GCC>ACC p.A331T NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 331 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) GGGGGCCCGGCAGCACCAGTA 0.612 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 11 19 0 0 0 0 MED13 9969 broad.mit.edu 37 17 60087936 60087936 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:60087936G>T uc002izo.2 - 9 2019 c.1942C>A c.(1942-1944)CAG>AAG p.Q648K MED13_uc002izp.2_Missense_Mutation_p.Q264K NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 648 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 large_intestine(1)|ovary(1) 2 ACACTTTCCTGTCCAAAAGGT 0.348 NA 8 38 1.13e-05 1.21e-05 1 0 GH2 2689 broad.mit.edu 37 17 61958159 61958159 + Silent SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:61958159T>C uc002jco.1 - 4 491 c.429A>G c.(427-429)CTA>CTG p.L143L GH2_uc002jcj.2_Silent_p.L143L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.L143L|GH2_uc002jcm.1_Silent_p.L143L|GH2_uc002jcn.1_Silent_p.L128L NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 143 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 TGCCTTCCTCTAGGTCCTTCA 0.617 NA 39 71 0 0 0 0 CCDC46 201134 broad.mit.edu 37 17 63898393 63898393 + Silent SNP G G A rs140758713 TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:63898393G>A uc002jfl.2 - 20 2259 c.2040C>T c.(2038-2040)AAC>AAT p.N680N CCDC46_uc010deo.2_Silent_p.N422N|CCDC46_uc002jfm.2_Silent_p.N680N|CCDC46_uc010dep.2_Silent_p.N638N NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 680 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) CCTTCTCTGCGTTATGCTGCT 0.463 NA 22 35 0 0 0 0 FBF1 85302 broad.mit.edu 37 17 73915827 73915827 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:73915827G>A uc002jqc.2 - 19 2289 c.2015C>T c.(2014-2016)ACG>ATG p.T672M FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.T663M|FBF1_uc002jqd.1_Missense_Mutation_p.T673M|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Translation_Start_Site NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 672 0 GTGCTGGGCCGTAAGCTCAGC 0.667 NA 3 37 0 0 0 0 TNRC6C 57690 broad.mit.edu 37 17 76089205 76089205 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:76089205G>C uc002jud.2 + 16 4762 c.4162G>C c.(4162-4164)GAA>CAA p.E1388Q TNRC6C_uc002juf.2_Missense_Mutation_p.E1385Q NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1388 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CTGGCCCCCAGGTAAGACCAT 0.522 NA 10 13 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78351573 78351573 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr17:78351573G>A uc002jyh.1 + 29 7964 c.7741G>A c.(7741-7743)GGC>AGC p.G2581S uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G963S NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTGTCCCAACGGCCATCCTTG 0.532 NA 68 106 0 0 0 0 FAM59A 64762 broad.mit.edu 37 18 29848299 29848299 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr18:29848299G>A uc002kxl.2 - 6 2222 c.2166C>T c.(2164-2166)TGC>TGT p.C722C FAM59A_uc002kxk.1_Silent_p.C721C NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 722 ovary(1)|skin(1) 2 GTAAGGCAGGGCATGACGTAC 0.532 NA 13 72 0 0 0 0 CILP2 148113 broad.mit.edu 37 19 19655287 19655287 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr19:19655287G>A uc002nmv.3 + 8 2018 c.1933G>A c.(1933-1935)GTG>ATG p.V645M CILP2_uc002nmw.3_Missense_Mutation_p.V651M NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 645 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CATGTTCTCCGTGGACCTCCG 0.731 NA 25 43 0 0 0 0 ZNF431 170959 broad.mit.edu 37 19 21365730 21365730 + Silent SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr19:21365730A>G uc002npp.2 + 5 771 c.624A>G c.(622-624)AAA>AAG p.K208K ZNF431_uc010ecq.2_Silent_p.K117K|ZNF431_uc010ecr.2_Silent_p.K209K NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 208 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 AATGTAAAAAATGTGGCAAAT 0.284 NA 12 32 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31039034 31039034 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr19:31039034C>A uc002nsu.1 + 4 2646 c.2508C>A c.(2506-2508)GAC>GAA p.D836E ZNF536_uc010edd.1_Missense_Mutation_p.D836E NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCAGGCCAGACATCCTGAGGG 0.582 NA 27 57 3.65e-15 4.28e-15 1 0 SIGLEC14 100049587 broad.mit.edu 37 19 52148741 52148741 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr19:52148741C>A uc002pxf.3 - 4 863 c.743G>T c.(742-744)GGC>GTC p.G248V NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 248 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGTGCCTGTGCCATTTCTGAA 0.552 NA 14 44 1.58e-08 1.75e-08 1 0 ZNF534 147658 broad.mit.edu 37 19 52941671 52941671 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr19:52941671C>A uc002pzk.2 + 4 1058 c.997C>A c.(997-999)CAT>AAT p.H333N ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.H320N NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 333 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTTGTAATCCATACTGGAGA 0.418 NA 11 10 0.000978159 0.00102338 1 0 PRKCG 5582 broad.mit.edu 37 19 54409991 54409991 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr19:54409991T>C uc002qcq.1 + 18 2218 c.1936T>C c.(1936-1938)TTC>CTC p.F646L PRKCG_uc010yeg.1_Missense_Mutation_p.F646L|PRKCG_uc010yeh.1_Missense_Mutation_p.F497L NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 646 AGC-kinase C-terminal. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTTTGACAAGTTCTTCACGCG 0.647 NA OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 125 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27804812 27804812 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:27804812C>T uc002rkz.3 + 1 5424 c.5373C>T c.(5371-5373)CAC>CAT p.H1791H ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1791 20.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AAAGCCATCACAGTCCCTCTG 0.542 NA 27 150 0 0 0 0 ADD2 119 broad.mit.edu 37 2 70901925 70901925 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:70901925G>A uc002sgz.2 - 14 2091 c.1626C>T c.(1624-1626)GAC>GAT p.D542D ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.D542D|ADD2_uc002sha.2_Silent_p.D236D|ADD2_uc002sgx.2_Silent_p.D542D|ADD2_uc010fdt.1_Silent_p.D542D NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 542 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 TGGTATCCTCGTCTCCCTTGG 0.557 NA 46 30 0 0 0 0 CCT7 10574 broad.mit.edu 37 2 73470213 73470213 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:73470213C>T uc002siz.2 + 4 451 c.349C>T c.(349-351)CAC>TAC p.H117Y CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Missense_Mutation_p.H73Y|CCT7_uc010feu.2_Intron|CCT7_uc010yrg.1_Missense_Mutation_p.H17Y|CCT7_uc010yrh.1_Silent_p.Y6Y|CCT7_uc010yri.1_Missense_Mutation_p.H30Y NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 117 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 GGAAGGTTTACACCCCCAGAT 0.517 NA 6 74 0 0 0 0 MOGS 7841 broad.mit.edu 37 2 74689333 74689333 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:74689333G>T uc010ffj.2 - 4 1746 c.1583C>A c.(1582-1584)CCT>CAT p.P528H MOGS_uc010ffh.2_Missense_Mutation_p.P253H|MOGS_uc010yrt.1_Missense_Mutation_p.P409H|MOGS_uc010ffi.2_Missense_Mutation_p.P422H NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 528 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 CAAGTCGTCAGGGTCACCAAC 0.597 NA 24 86 4.81e-24 5.73e-24 1 0 ANKRD36 375248 broad.mit.edu 37 2 97860475 97860475 + Missense_Mutation SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:97860475A>G uc010yva.1 + 39 2706 c.2462A>G c.(2461-2463)AAA>AGA p.K821R ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 821 0 TCTTCTCGGAAAAAACCAGCC 0.333 NA 8 9 0 0 0 0 POTEE 445582 broad.mit.edu 37 2 132021743 132021743 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:132021743G>C uc002tsn.2 + 15 2767 c.2715G>C c.(2713-2715)GAG>GAC p.E905D PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E505D|POTEE_uc002tsl.2_Missense_Mutation_p.E487D|POTEE_uc010fmy.1_Missense_Mutation_p.E369D NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 905 Actin-like. ATP binding 0 CCATGGCCGAGCGGGAAATCG 0.602 NA 9 141 0 0 0 0 PRKRA 8575 broad.mit.edu 37 2 179309173 179309173 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:179309173C>T uc002umf.2 - 4 573 c.372G>A c.(370-372)CAG>CAA p.Q124Q PRKRA_uc002umc.2_5'Flank|PRKRA_uc002umd.2_Silent_p.Q99Q|PRKRA_uc002ume.2_Silent_p.Q113Q|PRKRA_uc002umg.2_Silent_p.Q11Q NM_003690 NP_003681 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double 124 Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) TAGGATTAAGCTGGTTCTTTG 0.358 NA 24 31 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179430729 179430729 + Silent SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:179430729A>G uc010zfg.1 - 275 72650 c.72426T>C c.(72424-72426)GAT>GAC p.D24142D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D17837D|TTN_uc010zfi.1_Silent_p.D17770D|TTN_uc010zfj.1_Silent_p.D17645D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25069 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) TTGCCCCTCCATCAATGATGG 0.433 NA 33 132 0 0 0 0 ORC2L 4999 broad.mit.edu 37 2 201798644 201798644 + Silent SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:201798644G>C uc002uwr.2 - 10 1019 c.762C>G c.(760-762)ACC>ACG p.T254T ORC2L_uc010zhj.1_Silent_p.T254T NM_006190 NP_006181 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 254 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 TTCTATCAGAGGTTAAAACTT 0.343 NA 8 84 0 0 0 0 NDUFB3 4709 broad.mit.edu 37 2 201943659 201943659 + Missense_Mutation SNP T T G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:201943659T>G uc002uwx.3 + 2 377 c.54T>G c.(52-54)GAT>GAG p.D18E NM_002491 NP_002482 O43676 NDUB3_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 18 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) AACTTCCAGATTATAGACAAT 0.408 NA 4 49 0 0 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115525 220115525 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:220115525G>A uc002vkt.1 - 4 954 c.896C>T c.(895-897)GCC>GTC p.A299V TUBA4A_uc010zkz.1_Missense_Mutation_p.A284V|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN tubulin, alpha 4a 299 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3) 3 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCTGGTTGGCAGGCTCAAA 0.572 NA 18 83 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225400286 225400286 + Nonsense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:225400286G>A uc002vny.2 - 3 721 c.337C>T c.(337-339)CAA>TAA p.Q113* CUL3_uc010zls.1_Nonsense_Mutation_p.Q47*|CUL3_uc010fwy.1_Nonsense_Mutation_p.Q119* NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 113 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATAGCTGTTTGATGATCATTC 0.328 NA 20 8 0 0 0 0 GIGYF2 26058 broad.mit.edu 37 2 233660784 233660784 + Missense_Mutation SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:233660784A>G uc002vti.3 + 16 1829 c.1492A>G c.(1492-1494)ATG>GTG p.M498V GIGYF2_uc010zmj.1_Missense_Mutation_p.M498V|GIGYF2_uc002vtg.2_Missense_Mutation_p.M492V|GIGYF2_uc002vtj.3_Missense_Mutation_p.M519V|GIGYF2_uc002vtk.3_Missense_Mutation_p.M498V|GIGYF2_uc002vth.3_Missense_Mutation_p.M492V|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.M329V NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 498 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AGCTGAGAAAATGGTGGCTTA 0.383 NA 14 64 0 0 0 0 JAG1 182 broad.mit.edu 37 20 10639359 10639359 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr20:10639359T>C uc002wnw.2 - 4 967 c.451A>G c.(451-453)ATT>GTT p.I151V NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 151 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TTTTCAATAATACTGTCAGGT 0.448 NA Alagille_Syndrome 16 80 0 0 0 0 ID1 3397 broad.mit.edu 37 20 30193543 30193543 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr20:30193543C>T uc002wwg.1 + 1 452 c.353C>T c.(352-354)CCC>CTC p.P118L ID1_uc002wwh.1_Missense_Mutation_p.P118L|hsa-mir-3193|MI0014238_5'Flank NM_002165 NP_002156 P41134 ID1_HUMAN inhibitor of DNA binding 1 isoform a 118 angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding ovary(1) 1 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GTTGGAACCCCCGGGGGCCGA 0.622 NA 4 17 0 0 0 0 HLCS 3141 broad.mit.edu 37 21 38308946 38308946 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr21:38308946C>T uc010gnb.2 - 4 2000 c.799G>A c.(799-801)GTC>ATC p.V267I HLCS_uc002yvs.2_Missense_Mutation_p.V267I|HLCS_uc010gnc.1_Missense_Mutation_p.V414I NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 267 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AAGTTCTGGACTGTCTTGTGC 0.572 NA 18 44 0 0 0 0 CRYBB3 1417 broad.mit.edu 37 22 25598707 25598707 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr22:25598707C>A uc003abo.1 + 3 214 c.142C>A c.(142-144)CTG>ATG p.L48M NM_004076 NP_004067 P26998 CRBB3_HUMAN crystallin, beta B3 48 Beta/gamma crystallin 'Greek key' 1. visual perception protein binding|structural constituent of eye lens 0 GTGCCCCAGCCTGACCGACAG 0.587 NA OREG0026423 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 34 9.63e-23 1.14e-22 1 0 SSTR3 6753 broad.mit.edu 37 22 37603421 37603421 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr22:37603421C>T uc003ara.2 - 2 484 c.422G>A c.(421-423)CGC>CAC p.R141H SSTR3_uc003arb.2_Missense_Mutation_p.R141H NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 141 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 GGCCAGGTAGCGGTCCACGCT 0.667 NA 61 71 0 0 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987418 50987418 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr22:50987418C>T uc003bmi.2 + 1 957 c.823C>T c.(823-825)CGG>TGG p.R275W NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 275 central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCTCAGCCTGCGGACCGGCCG 0.746 NA 10 5 0 0 0 0 SMARCC1 6599 broad.mit.edu 37 3 47680266 47680266 + Silent SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:47680266T>C uc003crq.2 - 22 2443 c.2325A>G c.(2323-2325)GGA>GGG p.G775G SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Silent_p.G666G NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 775 Glu-rich. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CCTCTTCAGCTCCTTCTACAA 0.328 NA 46 22 0 0 0 0 GPR27 2850 broad.mit.edu 37 3 71804252 71804252 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:71804252C>T uc011bge.1 + 1 1052 c.1052C>T c.(1051-1053)GCC>GTC p.A351V EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 351 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) TGCTTCAGGGCCCAGTTCCCC 0.657 NA 9 5 0 0 0 0 OR5H2 79310 broad.mit.edu 37 3 98002139 98002139 + Silent SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:98002139A>G uc003dsj.1 + 1 408 c.408A>G c.(406-408)CTA>CTG p.L136L NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 AACCTTTACTATATCCAGTGA 0.368 NA 22 76 0 0 0 0 KLF15 28999 broad.mit.edu 37 3 126071260 126071260 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:126071260G>A uc011bkk.1 - 2 688 c.506C>T c.(505-507)GCC>GTC p.A169V NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 169 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) CTGGCTGCAGGCATCCAAGTC 0.612 NA 25 22 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155199435 155199435 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:155199435C>A uc011bok.1 - 23 4681 c.4404G>T c.(4402-4404)ATG>ATT p.M1468I PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.M1430I NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1468 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) CAGGGACATGCATATCTTGAG 0.473 NA 14 121 4.38e-07 4.76e-07 1 0 NLGN1 22871 broad.mit.edu 37 3 173998976 173998976 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:173998976C>T uc003fio.1 + 7 2778 c.2355C>T c.(2353-2355)CCC>CCT p.P785P NLGN1_uc003fip.1_Silent_p.P785P NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 802 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CAATGATTCCCAACACTATAC 0.483 NA 18 77 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 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) 38 31 0 0 0 0 C3orf21 152002 broad.mit.edu 37 3 194790786 194790786 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:194790786C>T uc003fum.3 - 4 948 c.840G>A c.(838-840)CCG>CCA p.P280P C3orf21_uc003ful.2_Silent_p.P77P|C3orf21_uc003fuk.2_Silent_p.P74P NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 280 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) CCTCGGGGGGCGGGCCCCCAA 0.677 NA 22 87 0 0 0 0 DLG1 1739 broad.mit.edu 37 3 196865135 196865135 + Missense_Mutation SNP A A C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:196865135A>C uc003fxo.3 - 10 1130 c.940T>G c.(940-942)TCA>GCA p.S314A DLG1_uc011bub.1_Missense_Mutation_p.S198A|DLG1_uc011buc.1_Missense_Mutation_p.S198A|DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.S314A|DLG1_uc011bue.1_Missense_Mutation_p.S281A|DLG1_uc010ial.2_Missense_Mutation_p.S314A|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.S281A|DLG1_uc010ian.2_Missense_Mutation_p.S181A NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 314 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ATTTTTTCTGACACTGGTTTC 0.338 NA 69 44 0 0 0 0 TXK 7294 broad.mit.edu 37 4 48096214 48096215 + Nonsense_Mutation DNP CC CC AA TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr4:48096214_48096215CC>AA uc003gxx.3 - 8 674_675 c.588_589GG>TT c.(586-591)ACGGAG>ACTTAG p.E197* TXK_uc003gxy.1_Nonsense_Mutation_p.E197* NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 197 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 ATGGCAGCCTCCGTACTTCTAC 0.371 NA 4 30 0 0 0 0 USP46 64854 broad.mit.edu 37 4 53470719 53470719 + Missense_Mutation SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr4:53470719C>T uc003gzn.2 - 6 855 c.670G>A c.(670-672)GAA>AAA p.E224K USP46_uc003gzm.3_Missense_Mutation_p.E217K|USP46_uc011bzr.1_Missense_Mutation_p.E201K|USP46_uc011bzs.1_Missense_Mutation_p.E108K NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 224 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) TATTTTTGTTCACTACACAGT 0.294 NA 21 13 0 0 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796456 69796456 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr4:69796456G>C uc003hef.2 - 5 1143 c.1112C>G c.(1111-1113)ACT>AGT p.T371S UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 371 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TCCACCATGAGTGATAAAAGC 0.358 NA 11 5 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134072873 134072873 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr4:134072873C>T uc003iha.2 + 1 2404 c.1578C>T c.(1576-1578)TAC>TAT p.Y526Y uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y526Y NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 526 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCTACTTGTACGCCCTGCGCT 0.592 NA 18 52 0 0 0 0 PRKAA1 5562 broad.mit.edu 37 5 40777689 40777689 + Splice_Site SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr5:40777689C>G uc003jmc.2 - 2 134 c.128_splice c.e2-1 p.V43_splice PRKAA1_uc003jmb.2_Splice_Site_p.V43_splice NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) TGTTTGCCAACTGTAAAAGAA 0.264 NA 36 14 0 0 0 0 SH3RF2 153769 broad.mit.edu 37 5 145379827 145379827 + Silent SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr5:145379827C>G uc003lnt.2 + 3 823 c.585C>G c.(583-585)CTC>CTG p.L195L SH3RF2_uc011dbl.1_Silent_p.L195L NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 195 SH3 2. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGGCCCTCTACAACTTCG 0.602 NA 14 11 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150924395 150924395 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr5:150924395T>C uc003lue.3 - 9 6306 c.6293A>G c.(6292-6294)GAC>GGC p.D2098G GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2098 Extracellular (Potential).|Cadherin 18. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTCCCCAAGTCCTCATCAGT 0.448 NA 49 18 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46661854 46661854 + Nonsense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr6:46661854G>T uc003oyj.2 + 1 5989 c.5989G>T c.(5989-5991)GAG>TAG p.E1997* TDRD6_uc010jze.2_Nonsense_Mutation_p.E1991* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1997 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TTTGTTCTCTGAGGAAGAAAG 0.313 NA 11 124 0.00244969 0.00255053 1 0 C7orf25 79020 broad.mit.edu 37 7 42949873 42949873 + Missense_Mutation SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:42949873C>G uc003thw.2 - 2 1091 c.627G>C c.(625-627)GAG>GAC p.E209D C7orf25_uc010kxq.2_Missense_Mutation_p.E209D|C7orf25_uc003thx.3_Missense_Mutation_p.E267D|C7orf25_uc010kxr.2_Missense_Mutation_p.E267D NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 209 skin(1) 1 CTGATTCACTCTCACTTGGTT 0.458 NA 27 25 0 0 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762231 92762231 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:92762231C>A uc003umh.1 - 5 4270 c.3054G>T c.(3052-3054)GAG>GAT p.E1018D SAMD9L_uc003umj.1_Missense_Mutation_p.E1018D|SAMD9L_uc003umi.1_Missense_Mutation_p.E1018D|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1018D|SAMD9L_uc003umk.1_Missense_Mutation_p.E1018D|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1018D|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1018D|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1018 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGAATAAATTCTCTTCTAATA 0.363 NA 22 55 5.35e-11 6.12e-11 1 0 CALCR 799 broad.mit.edu 37 7 93106945 93106945 + Missense_Mutation SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:93106945A>G uc003umv.1 - 5 556 c.295T>C c.(295-297)TGC>CGC p.C99R CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.C81R|CALCR_uc003umw.2_Missense_Mutation_p.C81R NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 81 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TCATCCCAGCACAGCCATCCA 0.418 NA 16 27 0 0 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917380 99917380 + Missense_Mutation SNP C C A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:99917380C>A uc003uug.1 + 4 648 c.408C>A c.(406-408)TTC>TTA p.F136L uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 513 0 GGTTCCAGTTCTTCTGTTCCA 0.607 NA 32 66 4.75e-14 5.55e-14 1 0 SRPK2 6733 broad.mit.edu 37 7 104808499 104808499 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:104808499G>A uc003vct.2 - 4 536 c.349C>T c.(349-351)CAT>TAT p.H117Y SRPK2_uc003vcu.2_Missense_Mutation_p.H117Y|SRPK2_uc003vcv.2_Missense_Mutation_p.H128Y|SRPK2_uc003vcw.1_Missense_Mutation_p.H117Y NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 117 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TCCGTATAATGCTGGGCACTT 0.279 NA 14 27 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149480698 149480698 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:149480698T>C uc010lpk.2 + 17 2404 c.2404T>C c.(2404-2406)TCT>CCT p.S802P SSPO_uc010lpl.1_Missense_Mutation_p.S137P NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 802 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCGGTGCTGTCTGCCTATGC 0.637 NA 37 82 0 0 0 0 PAXIP1 22976 broad.mit.edu 37 7 154767472 154767472 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:154767472C>T uc003wlp.2 - 6 1051 c.1008G>A c.(1006-1008)CGG>CGA p.R336R PAXIP1_uc003wlq.1_Silent_p.R302R|PAXIP1_uc011kvs.1_Silent_p.R300R|PAXIP1_uc003wlr.1_Silent_p.R245R NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 336 DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) TCCTCAGTGTCCGTACAGCTG 0.428 NA 20 17 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2820154 2820154 + Silent SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr8:2820154G>A uc011kwk.1 - 61 9855 c.9465C>T c.(9463-9465)TTC>TTT p.F3155F CSMD1_uc011kwj.1_Silent_p.F2484F|CSMD1_uc010lrg.2_Silent_p.F1046F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3155 Extracellular (Potential).|Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTCTCCGCAGAACACAGCTA 0.463 NA 3 14 0 0 0 0 PDE7A 5150 broad.mit.edu 37 8 66691976 66691976 + Missense_Mutation SNP T T C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr8:66691976T>C uc003xvq.2 - 3 274 c.262A>G c.(262-264)ATT>GTT p.I88V PDE7A_uc003xvr.2_Missense_Mutation_p.I88V|PDE7A_uc003xvp.2_Missense_Mutation_p.I62V NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 88 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) CGAAAATCAATATATGGGTGA 0.348 NA 20 139 0 0 0 0 VCPIP1 80124 broad.mit.edu 37 8 67576729 67576729 + Missense_Mutation SNP G G C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr8:67576729G>C uc003xwn.2 - 1 2724 c.2465C>G c.(2464-2466)CCT>CGT p.P822R NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 822 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CTCTTTAGGAGGAAACCCGTA 0.383 NA 28 125 0 0 0 0 PHF20L1 51105 broad.mit.edu 37 8 133858165 133858165 + Silent SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr8:133858165A>G uc003ytt.2 + 21 3376 c.3051A>G c.(3049-3051)GTA>GTG p.V1017V PHF20L1_uc011lja.1_Silent_p.V991V NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 1017 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTTGCTCTGTATGACAACAGT 0.388 NA 21 13 0 0 0 0 OPLAH 26873 broad.mit.edu 37 8 145108284 145108284 + Missense_Mutation SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr8:145108284G>T uc003zar.3 - 20 2781 c.2699C>A c.(2698-2700)GCC>GAC p.A900D OPLAH_uc003zas.1_Silent_p.G174G NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 900 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CGCCCGCAGGGCCTCCGTCAC 0.647 NA 8 93 0.00621372 0.00637684 1 0 MPDZ 8777 broad.mit.edu 37 9 13147652 13147652 + Missense_Mutation SNP A A T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr9:13147652A>T uc010mia.1 - 25 3693 c.3636T>A c.(3634-3636)GAT>GAA p.D1212E MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Missense_Mutation_p.D104E|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.D1212E|MPDZ_uc010mhz.2_Missense_Mutation_p.D1212E|MPDZ_uc011lmn.1_Missense_Mutation_p.D1212E|MPDZ_uc003zlb.3_Missense_Mutation_p.D1212E NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1212 PDZ 7. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GGTCCATTCCATCCACCTGCA 0.428 NA 24 19 0 0 0 0 ANKS6 203286 broad.mit.edu 37 9 101552737 101552738 + Missense_Mutation DNP CC CC AA TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr9:101552737_101552738CC>AA uc004ayu.2 - 2 531_532 c.510_511GG>TT c.(508-513)GTGGAC>GTTTAC p.D171Y ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 171 ANK 4. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) TGGTGATGGTCCACAAAGGCAC 0.649 NA 7 11 0 0 0 0 PRPF4 9128 broad.mit.edu 37 9 116038996 116038996 + Missense_Mutation SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr9:116038996A>G uc004bgx.2 + 2 249 c.199A>G c.(199-201)ATA>GTA p.I67V FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.2_Missense_Mutation_p.I66V NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 67 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 AAATATTAATATAACCTCTGG 0.388 NA 87 101 0 0 0 0 ESX1 80712 broad.mit.edu 37 X 103495254 103495254 + Silent SNP C C T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chrX:103495254C>T uc004ely.2 - 4 934 c.876G>A c.(874-876)GCG>GCA p.A292A NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 292 6.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTGGCACAGGCGCCATGCGTG 0.612 NA 12 15 0 0 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869581 151869581 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chrX:151869581G>A uc004ffq.1 + 3 465 c.271G>A c.(271-273)GAA>AAA p.E91K MAGEA6_uc004ffr.1_Missense_Mutation_p.E91K|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 91 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CAGCAACCAAGAAGAGGAGGG 0.557 NA 14 27 0 0 0 0 DTX4 23220 broad.mit.edu 37 11 58956754 58956755 + Frame_Shift_Ins INS - - C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr11:58956754_58956755insC uc001nns.2 + 4 1374_1375 c.1117_1118insC c.(1117-1119)TCCfs p.S373fs DTX4_uc001nnr.2_Frame_Shift_Ins_p.S267fs NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 373 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) CCCAGGGGTTTCCAACACAAGC 0.465 NA 2 4 --- --- --- --- NA NA NA NA PTPRB 5787 broad.mit.edu 37 12 71029580 71029580 + Frame_Shift_Del DEL A A - TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr12:71029580delA uc001swc.3 - 2 366 c.322delT c.(322-324)TCTfs p.S108fs PTPRB_uc001swa.3_Frame_Shift_Del_p.S108fs|PTPRB_uc001swd.3_Frame_Shift_Del_p.S107fs|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Frame_Shift_Del_p.S108fs NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGAAAGAGAGAGGCATTTTCC 0.532 NA 18 16 --- --- --- --- NA NA NA NA JUB 84962 broad.mit.edu 37 14 23450638 23450639 + Frame_Shift_Ins INS - - C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr14:23450638_23450639insC uc001whz.2 - 1 1213_1214 c.837_838insG c.(835-840)GAGCTAfs p.E279fs NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 279_280 PreLIM.|Nuclear localization signal (Potential). cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) AAAGCTGTTAGCTCGTCCTGGT 0.713 NA 13 9 --- --- --- --- NA NA NA NA TET3 200424 broad.mit.edu 37 2 74274034 74274049 + Frame_Shift_Del DEL GATCTCTCCCCAAGAG GATCTCTCCCCAAGAG - TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:74274034_74274049delGATCTCTCCCCAAGAG uc002skb.3 + 1 585_600 c.585_600delGATCTCTCCCCAAGAG c.(583-600)CAGATCTCTCCCCAAGAGfs p.Q195fs TET3_uc010fez.1_Frame_Shift_Del_p.Q195fs NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 195_200 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC 0.644 NA 13 16 --- --- --- --- NA NA NA NA PPP1R1C 151242 broad.mit.edu 37 2 182981993 182981993 + Frame_Shift_Del DEL A A - TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr2:182981993delA uc002uoo.2 + 5 588 c.301delA c.(301-303)AATfs p.N101fs PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Frame_Shift_Del_p.N101fs|PPP1R1C_uc010frm.1_Frame_Shift_Del_p.N108fs|PPP1R1C_uc010frn.1_RNA NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) 101 signal transduction cytoplasm protein phosphatase inhibitor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0628) AGAAGGCACCAATGAAAGAGA 0.368 NA 2 4 --- --- --- --- NA NA NA NA ASTE1 28990 broad.mit.edu 37 3 130743569 130743570 + Frame_Shift_Ins INS - - G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr3:130743569_130743570insG uc003env.1 - 3 1023_1024 c.581_582insC c.(580-582)CCTfs p.P194fs NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Frame_Shift_Ins_p.P194fs|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 194 DNA repair nuclease activity 0 AGCATTTGGCAGGGATATAGTT 0.396 NA 34 84 --- --- --- --- NA NA NA NA WHSC1 7468 broad.mit.edu 37 4 1957868 1957869 + Frame_Shift_Ins INS - - C TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr4:1957868_1957869insC uc003gdz.3 + 15 3010_3011 c.2834_2835insC c.(2833-2835)GGCfs p.G945fs WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 945 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGGACCGGGGCAGCCGCTACC 0.51 NA T IGH@ MM 14 118 --- --- --- --- NA NA NA NA POR 5447 broad.mit.edu 37 7 75614935 75614935 + Frame_Shift_Del DEL G G - TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec0a719b-3c3a-4797-9ec5-90d3474da727 fe078b43-0f76-4648-ac30-af1599fd3421 g.chr7:75614935delG uc003udy.2 + 13 1519 c.1437delG c.(1435-1437)GTGfs p.V479fs POR_uc011kgc.1_Frame_Shift_Del_p.V287fs|POR_uc011kgd.1_Frame_Shift_Del_p.V378fs|POR_uc011kge.1_Frame_Shift_Del_p.V217fs|POR_uc003uea.2_5'UTR NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 476 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) CGGTGGTTGTGGAGTACGAGA 0.697 NA 2 4 --- --- --- --- NA NA NA NA